O15078
EV
Gene name |
CEP290 (BBS14, KIAA0373, NPHP6) |
Protein name |
Centrosomal protein of 290 kDa |
Names |
Cep290, Bardet-Biedl syndrome 14 protein, Cancer/testis antigen 87, CT87, Nephrocystin-6, Tumor antigen se2-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80184 |
EC number |
|
Protein Class |
CENTROSOMAL PROTEIN OF 290 KDA (PTHR18879) |
Descriptions
CEP290 plays a critical role in the formation and function of the primary cilium and, when mutated, is responsible for a variety of devastating human diseases. CEP290 activity was regulated by 2 autoinhibitory domains within its N(1-580) and C termini(1966-2479), both of which were found to play critical roles in regulating ciliogenesis. The 2 novel regulatory regions of the protein cooperate to inhibit CEP290 function, binding to each other and causing a conformational change in the protein, stabilized by the binding of CP110, that obscures important functional domains and decreases protein function.
Autoinhibitory domains (AIDs)
Target domain |
1966-2479 (C-terminal autoinhibitory region) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment |
Target domain |
1-580 (N-terminal autoinhibitory region) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O15078
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O15078-F1 | Predicted | AlphaFoldDB |
2001 variants for O15078
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001091344 RCV001862693 rs368984997 |
1 | M>K | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385990528 RCV000988893 rs1434632102 |
5 | I>T | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086283 VAR_028356 RCV000505111 RCV001851540 rs62635288 CA227962 RCV000001398 RCV001328051 |
7 | W>C | JBTS5 and SLSN6 Nephronophthisis Joubert syndrome Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs185939120 RCV001835780 RCV000297891 RCV000336593 RCV000395254 RCV001764278 CA6712929 RCV001071832 RCV000294199 RCV000337538 |
11 | M>V | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA385990362 rs1425716932 RCV001199652 RCV000658664 |
15 | P>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6712920 RCV001048254 rs753760503 RCV001832450 |
27 | N>D | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001279938 rs1378106199 CA385990127 |
31 | S>F | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000225409 CA10581687 RCV001854802 rs878853363 |
50 | H>Y | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1264332374 CA385989834 RCV000636993 |
51 | L>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs758550675 RCV000201609 |
55 | T>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712880 RCV001320459 rs769705891 RCV001830339 |
63 | A>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001113989 CA241166992 RCV001113988 RCV001113990 RCV001113987 RCV001113986 rs951351175 |
92 | M>V | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs386834153 CA144391 RCV000050147 |
97 | E>* | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343117 CA385988618 rs757402765 |
97 | E>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040497202 RCV001245425 |
98 | L>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750018041 RCV001825909 CA385987696 RCV001345219 |
110 | T>A | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2040373653 RCV001202458 |
113 | L>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040372439 RCV001340171 |
121 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040371663 RCV001267299 |
125 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000050150 rs386834156 |
127 | K>missing | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000050151 RCV000416432 RCV000702996 rs386834157 |
128 | D>missing | Joubert syndrome Meckel syndrome, type 4 Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712782 RCV000552078 rs757641323 RCV000414162 |
151 | R>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753374614 RCV001309740 CA6712781 |
151 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385986546 RCV001829491 RCV000519720 RCV001036439 rs760856790 RCV001778989 COSM1735531 |
168 | R>C | pancreas Joubert syndrome Leber congenital amaurosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6712768 RCV000637006 RCV000355828 RCV000263394 COSM295979 RCV000285505 RCV000316286 rs200063017 RCV000373256 |
168 | R>H | Bardet-Biedl syndrome 14 Joubert syndrome large_intestine Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Retinitis pigmentosa (rp) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs772170760 RCV000701688 CA6712767 |
170 | K>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765944337 CA6712766 RCV001196597 RCV000593429 |
172 | K>Q | Joubert syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001109866 RCV001109867 CA6712745 RCV000809280 RCV001109868 rs202159966 RCV001110658 RCV001275045 RCV000428640 RCV001252443 RCV001109869 |
175 | Q>K | Intellectual disability Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374752439 RCV001865461 RCV000482317 CA6712739 |
184 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA114937 rs137852835 RCV000001407 |
205 | R>* | Meckel syndrome, type 4 Leber congenital amaurosis 10 (lca10) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2039987503 RCV001279937 |
208 | L>W | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294246 RCV001823768 RCV001830116 rs527704077 CA6712723 |
212 | N>Y | Bardet-Biedl syndrome 14 Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000503197 RCV000201653 rs863225185 CA279451 |
218 | Y>* | Joubert syndrome 5 (jbts5) Meckel syndrome, type 4 Joubert syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001113893 RCV001109865 CA6712702 rs200587974 RCV001109863 RCV001109864 RCV001244757 RCV001279936 RCV001109862 |
224 | T>I | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000256475 RCV001261603 rs886039805 |
225 | L>missing | Meckel syndrome, type 4 Meckel-Gruber syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592671672 RCV001389258 RCV000991447 |
245 | E>missing | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001836197 CA385984519 rs1477583890 RCV001238700 |
263 | I>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA385984500 rs1242440672 RCV000688427 RCV001830495 |
264 | V>L | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000701975 CA241157415 rs866480852 RCV000504551 |
272 | D>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000627434 RCV000704380 rs1555225566 |
277 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004996 RCV001860572 CA385984278 rs45502896 |
277 | E>* | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA241157401 RCV001871587 RCV001279935 rs796540607 |
279 | D>N | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001871586 RCV001279934 CA241157392 rs796540607 |
279 | D>Y | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs575493480 RCV001236532 RCV001828880 CA6712694 |
280 | H>Y | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1592668925 RCV000988891 CA385983941 |
294 | S>* | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000593686 RCV001834911 rs558949569 CA6712674 RCV001002636 |
306 | V>I | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000763868 RCV001112545 RCV001112546 RCV001112549 RCV000372218 rs774072453 RCV001112548 CA6712647 RCV001112547 |
321 | D>E | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000691545 rs769705837 RCV001275041 CA6712643 |
325 | I>T | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776256270 RCV001279933 CA6712641 |
328 | Q>H | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA385982759 RCV001247342 RCV001830010 rs1429640081 |
343 | L>P | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs372923864 RCV001252441 CA6712634 |
346 | D>E | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs776645403 RCV000763317 CA6712624 RCV000636983 |
360 | R>* | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000714822 CA6712623 RCV000637003 RCV000354111 RCV000342452 RCV000396707 RCV000280320 rs201988582 RCV000320212 RCV000374721 |
364 | I>M | CEP290-Related Disorders Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001109775 RCV001109777 RCV001109779 RCV001109776 rs1295338042 CA385981245 RCV001828559 RCV001234660 RCV001109778 |
381 | N>S | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6712602 RCV000526103 rs773578133 RCV000839270 |
400 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA240380 RCV000174801 RCV001852131 rs781183605 |
405 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000050142 rs386834148 RCV000201718 |
407 | M>missing | Meckel syndrome, type 4 Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712594 rs189280108 RCV001835216 RCV001244829 |
412 | T>M | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001279932 rs2039364974 |
445 | L>V | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216487 rs2039364798 |
447 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712579 RCV000293247 RCV000363136 RCV000387296 rs747463477 RCV000332842 RCV000277847 |
449 | K>E | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774490795 RCV001862596 RCV001075118 |
450 | D>missing | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA241152476 RCV001279931 rs777867610 |
450 | D>G | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6712560 RCV000555543 rs558414868 |
463 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001230980 rs1437841365 |
464 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214318 rs2039321844 |
464 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1437841365 CA385980174 RCV000702124 |
464 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000625900 rs771266705 |
474 | I>missing | Bardet-Biedl syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385980064 rs1170451277 RCV000763316 RCV000627200 |
477 | R>* | Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001279930 CA241151918 RCV001241474 rs373303674 |
483 | T>I | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs386834149 RCV000200294 RCV000050143 |
484 | K>missing | Joubert syndrome Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385979922 RCV001308341 RCV001830243 rs1331263277 |
487 | N>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000540957 CA385979851 rs1278679056 |
492 | K>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6712549 RCV001229654 rs761301690 |
503 | L>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886043303 RCV000360035 RCV000636995 RCV000415286 |
504 | R>missing | Global developmental delay Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886043303 RCV001195862 RCV001863097 |
505 | E>missing | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712547 rs368427967 RCV001279929 |
506 | R>C | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001830427 rs1390141039 CA385979262 RCV001340728 |
530 | Q>R | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA241151086 rs895126773 VAR_068168 |
534 | E>K | JBTS5 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA241151004 rs374824892 RCV000539486 |
555 | K>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000697843 RCV000201771 rs727503855 |
556 | I>missing | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195819 CA6712494 COSM944245 rs561018129 RCV000249364 RCV001241555 |
557 | R>C | Joubert syndrome endometrium Joubert syndrome 5 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000763867 RCV001111901 RCV000485164 CA6712493 rs184018899 RCV000554377 RCV000723705 RCV001111900 RCV001275035 RCV001111903 RCV001111904 RCV001111902 |
557 | R>H | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001279926 CA241150963 rs1000099371 |
559 | M>I | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs77579747 CA6712481 RCV001314251 RCV001835551 |
581 | E>A | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001279555 rs1459958084 CA385978293 |
583 | I>V | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000522611 rs371496675 CA6712475 RCV000225634 |
594 | L>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6712445 RCV001238697 rs761662102 |
609 | N>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001211577 RCV000722987 CA385977222 rs1203763812 |
620 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs386834151 RCV000050145 RCV001853067 |
622 | D>missing | Joubert syndrome Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712442 rs746124813 RCV001279554 |
626 | S>N | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6712437 RCV000357069 RCV000351341 RCV000311480 RCV000390499 rs199747962 RCV000315150 |
636 | K>N | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA385977034 RCV000519595 rs1555220625 RCV001058827 |
639 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000339157 RCV000397103 CA10642537 RCV000290699 RCV000384376 rs886049883 RCV000345620 |
641 | V>L | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780225183 RCV000636991 RCV000313260 CA6712427 |
646 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685655 RCV000201755 rs386834152 RCV000050146 CA144389 |
662 | Q>* | Joubert syndrome Joubert syndrome 5 (jbts5) Meckel syndrome, type 4 Joubert syndrome 5 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001833619 RCV001063552 rs200454865 CA6712402 |
697 | A>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000555148 CA6712399 rs369104382 |
700 | H>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686453 RCV000201612 rs863225183 |
705 | V>missing | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs969763835 CA241149476 RCV001827296 RCV001047189 |
710 | G>A | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000307295 rs375038986 RCV000310425 RCV000371328 RCV000400672 CA6712389 RCV000365084 |
725 | E>A | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs767250881 CA6712387 RCV000533595 |
731 | Q>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001109513 RCV001109515 RCV001109511 rs1378036383 CA385974770 RCV001109514 RCV001862875 RCV001109512 |
739 | K>M | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001090826 RCV000144460 rs587783010 |
750 | L>missing | Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137852833 RCV001851541 CA339890 RCV000001401 |
750 | L>* | Joubert syndrome Leber congenital amaurosis 10 Leber congenital amaurosis 10 (lca10) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6712362 rs753884599 RCV001868322 RCV000710064 |
751 | R>* | Joubert syndrome Joubert syndrome 5 (jbts5) Joubert syndrome 5 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000124245 RCV000231629 rs2468255 |
756 | S>= | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6712360 RCV001115139 rs761111801 RCV001115140 RCV001115142 RCV001115141 RCV001115143 |
756 | S>L | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001057249 RCV001832517 RCV001111725 RCV001111724 CA6712356 RCV001562596 RCV001111726 rs199583200 RCV001111727 RCV001111723 |
769 | I>T | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000505547 rs1555218898 |
773 | S>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777365811 CA6712354 RCV001252436 |
774 | A>P | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001279551 rs2038667289 |
776 | I>V | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780990839 RCV001109402 RCV001111722 RCV001862873 RCV001109400 RCV001109403 RCV001109401 CA6712352 RCV001788416 |
783 | Y>C | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781670422 RCV000504815 |
797 | K>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038497441 RCV001279550 |
800 | N>K | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685413 rs773007151 CA6712334 |
808 | Y>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA208288 RCV000194239 RCV001271585 RCV001298197 RCV000766668 RCV001073468 rs374656545 |
816 | R>C | Joubert syndrome Leber congenital amaurosis Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000280086 RCV000387825 RCV000375138 rs768448895 RCV000329816 RCV000293507 CA6712331 |
816 | R>H | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001000094 rs1209421607 CA385972643 |
819 | Q>L | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000695543 rs779666225 CA6712329 |
825 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115045 RCV000689950 RCV001829910 CA6712327 rs201569048 RCV001115044 RCV001115043 RCV001115042 RCV001756171 RCV001115041 |
827 | L>V | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_031058 RCV000114189 RCV000297354 RCV000391116 RCV000303241 RCV000086982 CA150898 RCV000357993 rs11104738 RCV000361526 |
838 | K>E | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764963626 CA6712316 RCV000763866 RCV000228050 |
851 | V>I | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001384273 RCV001008546 RCV001330037 rs1221464366 |
865 | L>missing | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835220 RCV001577091 CA6712297 RCV001244964 RCV001252438 rs373341530 |
872 | S>L | Intellectual disability Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147362398 RCV000864755 RCV001111624 CA6712294 RCV001111620 RCV001111623 RCV001111622 RCV001275029 RCV001111621 |
880 | A>S | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001074451 RCV001585977 rs142038791 CA6712292 RCV001828537 RCV001246474 |
889 | L>F | Joubert syndrome Leber congenital amaurosis Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859707 RCV000268793 CA10606630 rs886044332 |
890 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038316964 RCV001279548 |
890 | Q>H | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555216730 RCV000658662 RCV001199650 |
895 | S>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869196 CA6712290 RCV000787909 rs774079924 |
897 | I>M | Retinitis pigmentosa Joubert syndrome Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_031059 RCV000295173 rs7970228 RCV000114190 RCV000389552 RCV000476789 RCV000325683 RCV000386730 CA150900 RCV000289399 |
906 | L>W | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000262985 rs886049882 RCV000316960 RCV000259286 RCV000329859 CA10642536 RCV000373878 |
954 | D>G | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001114935 RCV001114938 RCV001114936 rs2038007630 RCV001114937 RCV001113521 |
957 | V>I | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414899 rs1057518822 RCV001199375 CA16043473 RCV000415004 |
981 | Q>* | Joubert syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037999495 RCV001279547 |
982 | K>N | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000192651 rs182369459 RCV000176690 RCV000660467 CA205610 |
994 | E>K | Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis 10 (lca10) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2037478393 RCV001215199 |
1005 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1038566350 RCV001239211 CA241171271 RCV001834079 |
1010 | I>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001857990 rs1555212271 RCV000522539 |
1042 | K>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692853 rs762342726 CA6712208 COSM3417242 |
1044 | K>N | Joubert syndrome large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001111526 RCV001111524 RCV001111527 RCV001111523 rs2037238288 RCV001111525 |
1051 | D>V | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs62640570 RCV000050148 RCV001853068 |
1058 | K>* | Joubert syndrome Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201524 rs863225184 |
1059 | I>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114193 RCV000086287 rs62640570 RCV000695282 RCV000201666 |
1059 | I>missing | Joubert syndrome Joubert syndrome 5 Meckel-Gruber syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759877 RCV001109193 RCV001109190 CA241168766 RCV001109191 rs928926898 RCV001109192 RCV001109189 |
1059 | I>K | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000225531 rs878853362 |
1061 | M>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225189 RCV000201682 |
1062 | L>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636994 rs1555212150 CA658797939 |
1069 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778407127 RCV001248762 RCV001232256 RCV001806067 |
1072 | R>missing | Joubert syndrome Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828674 RCV001208928 CA386006144 rs1298561837 COSM944232 |
1072 | R>Q | Joubert syndrome endometrium Leber congenital amaurosis [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs2037229663 RCV001074054 |
1074 | E>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000265208 RCV000366644 RCV000360975 rs200668620 RCV000304013 CA6712194 RCV000309647 |
1077 | Q>R | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA386006028 RCV001237935 rs886042467 |
1080 | Y>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs902039539 CA241168648 RCV001279545 RCV001871570 |
1080 | Y>C | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001225724 rs2037226237 |
1084 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279544 RCV001034974 COSM944231 CA6712188 rs372918770 |
1084 | R>W | Joubert syndrome endometrium Leber congenital amaurosis [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001075200 CA386005847 rs1565855129 |
1094 | N>K | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001835231 rs373207132 RCV001245242 CA6712160 |
1108 | N>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001827402 RCV001063217 rs774900495 CA6712148 |
1137 | R>Q | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001850481 CA6712149 RCV000405471 rs759961956 |
1137 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA150905 RCV000636999 RCV000114194 rs372190684 |
1148 | L>V | Joubert syndrome Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs386834155 RCV000050149 |
1149 | K>missing | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2037140260 RCV001090825 RCV001199651 |
1155 | L>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204615 rs2036974151 |
1174 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA241165950 RCV001279542 rs1030787885 |
1177 | D>H | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001036503 rs2036971853 |
1178 | K>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1466311097 RCV001199240 CA386001775 |
1181 | E>Q | Joubert syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001111432 RCV001111433 RCV001111434 RCV001111435 rs2036852568 RCV001111431 |
1194 | S>F | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386001282 RCV001045344 rs372640024 |
1198 | S>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6712110 RCV001331375 RCV001828502 rs372640024 RCV001248616 RCV000488171 |
1198 | S>L | Joubert syndrome Senior-Loken syndrome 6 Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6712108 RCV000810950 rs375065584 RCV001825621 |
1202 | K>R | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA243794 RCV001832016 RCV002054097 RCV000797414 rs201982308 RCV000763865 RCV000724196 |
1220 | K>N | Bardet-Biedl syndrome 14 Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001109088 RCV001556246 CA6712097 RCV001109092 RCV001109089 RCV001109091 rs768864296 RCV001247657 RCV001279540 RCV001109090 |
1237 | R>C | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs547677441 CA6712090 RCV001279539 |
1253 | R>C | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001113341 RCV001113342 RCV001113345 RCV001113344 RCV001113343 rs2036834615 |
1254 | L>F | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035058 RCV001836069 rs200830750 CA241164518 |
1258 | N>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2036833257 RCV001235735 |
1261 | K>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636986 rs370395204 RCV000733946 RCV001273077 CA6712085 |
1263 | L>M | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000381363 RCV000557002 rs139998038 RCV000327895 CA6712084 RCV000276434 RCV000333827 RCV000289191 |
1264 | R>C | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6712075 RCV000352755 RCV000535460 rs267603712 |
1276 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA891862950 rs1565845877 RCV001868919 RCV000722369 |
1277 | A>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001390760 rs2036824785 |
1283 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001271576 rs1353300022 RCV000528258 CA386000558 |
1286 | F>L | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000201586 RCV000144467 rs587783016 CA277711 |
1302 | Q>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis 10 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064794650 RCV001271575 RCV000479631 CA16619600 |
1302 | Q>P | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046052 RCV001271574 RCV000298277 RCV000329947 RCV000355436 rs778137534 RCV000368294 CA6712053 RCV000263058 |
1317 | K>T | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000520381 CA386000228 rs959651787 RCV001834706 |
1327 | G>D | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369227219 RCV001239880 RCV001826902 CA244171 RCV000177661 |
1344 | V>A | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001281170 rs2036720274 |
1349 | M>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001271573 CA241163013 rs923112337 RCV000534143 |
1349 | M>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001279536 rs376425111 COSM431944 RCV001236001 CA6712032 RCV000994955 |
1355 | R>C | Joubert syndrome Leber congenital amaurosis breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000339034 RCV001835779 CA10638682 rs548558619 RCV000398556 RCV000361178 RCV000391345 RCV001242966 RCV001590929 RCV000303931 |
1355 | R>H | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001067829 RCV001114607 CA6712027 RCV001833655 RCV001114605 RCV001114604 rs188502327 RCV001568234 RCV001114606 RCV001114608 |
1363 | R>Q | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs181121175 RCV000548918 RCV000345714 RCV000389733 RCV000400374 CA6712028 RCV000291084 RCV000288370 |
1363 | R>W | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001345498 RCV001831113 rs1270381017 CA385999217 |
1366 | V>G | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000268181 RCV000316272 RCV000360821 RCV001347081 RCV000303676 RCV000603267 RCV001273072 rs143152287 RCV000354663 CA6712022 |
1384 | R>H | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555208870 RCV001543580 RCV000518898 |
1387 | S>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001335138 rs2036709987 |
1393 | I>V | Bardet-Biedl syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828617 CA6711995 rs762417751 RCV001201417 |
1414 | L>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000192446 rs797044604 CA347348 |
1415 | E>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000335864 RCV001273069 RCV001859862 RCV000322913 CA6711991 RCV000278413 RCV000379816 RCV000265665 rs771898047 RCV000514729 |
1419 | D>E | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000196701 rs863224523 |
1425 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464219 CA6711987 rs749261915 |
1430 | N>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230831 RCV001833999 rs369902368 CA6711955 |
1454 | E>K | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225182 RCV000201700 |
1462 | E>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763314 rs539400286 CA277705 RCV000201563 RCV000502726 |
1465 | R>* | Joubert syndrome 5 (jbts5) Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6711945 RCV001828754 RCV001220520 rs771110294 |
1471 | R>W | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780624853 RCV000201704 |
1484 | K>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001074470 rs1345994179 |
1497 | S>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036455482 RCV001307062 |
1499 | D>V | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201597 CA277724 RCV000521437 rs749439750 |
1508 | R>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001113141 RCV001113138 RCV001113140 RCV001248088 RCV001828560 CA6711921 RCV001113142 RCV001113139 rs568197175 |
1508 | R>Q | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000277527 rs200817579 RCV000311320 RCV000336910 RCV000392673 CA6711914 RCV000370677 RCV000232101 |
1519 | I>L | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001111133 rs200817579 RCV001111132 RCV001111129 RCV001111131 CA6711915 RCV001111130 |
1519 | I>V | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs760625332 RCV001206393 CA6711911 RCV001833811 |
1526 | E>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000114199 rs587779733 |
1541 | T>missing | Meckel-Gruber syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086291 RCV002221147 rs62640572 |
1553 | E>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592836704 CA385994330 RCV000988882 |
1568 | E>D | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1292516576 RCV001283851 |
1572 | E>* | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1292516576 CA385994093 RCV001261608 RCV001261602 |
1572 | E>K | Joubert syndrome 5 Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000484693 rs137852834 CA251751 RCV000001402 RCV000415120 RCV000763312 RCV000415219 RCV000508230 RCV000001403 |
1575 | K>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis 10 (lca10) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001073469 RCV000193603 rs11831931 RCV001366563 RCV001828016 CA207196 |
1581 | L>F | Joubert syndrome Leber congenital amaurosis Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001273066 RCV000815427 RCV000300690 RCV001582702 RCV000379773 rs199826787 RCV000335594 RCV000203104 RCV000285366 RCV000401171 CA249309 |
1585 | H>R | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1201073418 RCV001252434 |
1593 | D>N | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785965 rs1592833648 |
1598 | K>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000225618 rs878853361 CA10581684 |
1601 | Q>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369451049 RCV001830860 RCV001000093 CA6711864 RCV001244303 |
1602 | T>M | Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2036372197 RCV001203000 |
1603 | A>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000256429 CA10588971 rs886039808 |
1604 | W>* | Joubert syndrome and related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769280708 CA6711843 RCV000636998 |
1613 | P>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000368992 RCV000333947 RCV000274263 RCV000300211 rs747852436 RCV000388604 CA6711842 |
1618 | K>N | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001246193 rs2036318355 |
1622 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763311 RCV000493605 CA277760 RCV000201672 RCV000414892 rs376493409 RCV000626966 |
1628 | Q>* | Global developmental delay Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis 10 Occipital encephalocele [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1226324483 RCV000678536 RCV001700446 CA385992764 |
1654 | Q>* | Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000201538 RCV000457599 rs756302731 |
1656 | E>missing | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694088 rs764309755 |
1656 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA227975 RCV000086294 RCV000637002 RCV000263885 COSM944227 rs62638179 |
1656 | E>* | CEP290-Related Disorders Joubert syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000733950 CA6711822 rs372557655 RCV001273064 RCV000637001 |
1660 | L>I | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2036306894 RCV001227714 |
1662 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10633635 RCV000298622 RCV000302574 RCV000361996 rs886049880 RCV000354033 COSM1364704 RCV000392190 |
1675 | N>D | Bardet-Biedl syndrome 14 large_intestine Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1209477107 RCV000800555 CA385991402 |
1695 | D>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000329878 RCV000293334 RCV000389061 RCV000373978 CA10638681 rs886049879 RCV000294668 |
1700 | E>G | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367580207 RCV000637000 CA6711790 RCV001273062 RCV000733949 |
1709 | Q>K | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs568619750 RCV001273061 RCV001247847 RCV000480766 CA6711787 |
1715 | N>K | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000636984 rs1555205391 CA385991095 |
1720 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636988 rs542400806 CA241154634 RCV001835023 |
1723 | M>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001114327 RCV001278755 CA6711780 RCV001114328 RCV001114329 RCV001114326 RCV001114325 rs535531689 |
1729 | R>Q | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001114330 RCV000480435 CA6711781 rs201353893 RCV001110311 RCV001114331 RCV001110309 RCV001252442 RCV001276490 RCV001110310 RCV001247923 |
1729 | R>W | Intellectual disability Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA385990901 rs1555205328 RCV000525824 |
1738 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA150915 RCV000436165 RCV000407985 RCV000292636 RCV000399104 RCV000114201 RCV000336982 rs61941020 RCV000352237 |
1746 | R>Q | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373307908 RCV000285304 RCV000178009 RCV000379723 CA245024 RCV001248280 RCV001273058 RCV000371843 RCV000317172 RCV000281982 RCV000763862 |
1762 | R>C | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110215 RCV001110967 rs761763799 CA6711741 RCV001110216 RCV001110968 RCV001221464 RCV001833709 RCV001110217 |
1762 | R>H | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6711736 RCV000367744 RCV000277878 RCV000363430 RCV000314202 rs368492668 RCV000313057 RCV001833457 RCV001043478 |
1780 | V>I | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000598977 RCV000763310 CA277810 rs575767207 RCV000201766 |
1782 | R>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 Leber congenital amaurosis 10 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385989181 RCV001880272 RCV001278754 rs1289111857 |
1799 | L>V | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000793218 rs1592808035 |
1807 | T>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317081 RCV001835575 rs763278328 CA6711719 |
1808 | S>N | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757609119 RCV000636996 |
1812 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385988719 RCV001064703 rs1565822715 |
1817 | D>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6711713 rs776980750 RCV001278753 |
1820 | N>S | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000415183 RCV000504936 RCV000392172 rs386834158 RCV000050152 |
1832 | A>missing | Joubert syndrome Meckel syndrome, type 4 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_031061 RCV000342377 CA6711707 RCV000338834 RCV000297940 RCV000391752 RCV000402056 rs11104729 RCV000246283 RCV000514061 |
1836 | I>V | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705120 rs1565822519 |
1838 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053009 RCV001833456 RCV000287366 CA6711702 RCV000290758 RCV000377064 RCV000385016 rs563967678 RCV000341155 |
1848 | D>G | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1592807018 RCV001827170 RCV001860589 RCV001008242 RCV001535995 |
1861 | L>missing | Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201601 rs727503853 |
1871 | Q>missing | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678537 RCV000086297 rs281865188 |
1884 | L>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6711680 rs186330724 RCV000841438 RCV001219059 |
1889 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000001396 RCV000114202 CA150917 RCV000515339 RCV000086298 rs137852832 RCV000531295 |
1890 | G>* | Joubert syndrome Joubert syndrome 5 (jbts5) Joubert syndrome 5 Meckel-Gruber syndrome Leber congenital amaurosis 10 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs267606719 RCV000201631 RCV001261609 CA251753 RCV000001410 |
1902 | E>* | Bardet-Biedl syndrome 14 Joubert syndrome 5 (jbts5) Joubert syndrome 5 Meckel syndrome, type 6 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234827 CA10583996 rs878855334 |
1903 | K>* | Nephronophthisis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA385985190 rs1565813077 RCV000688399 |
1911 | R>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2035405223 RCV001278751 |
1914 | E>D | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656738 rs751361090 |
1916 | K>* | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6711648 RCV000303118 RCV000339249 rs746949236 RCV000398921 RCV000603796 RCV000391502 RCV000347524 RCV001341200 |
1922 | I>L | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM260065 RCV001278750 CA6711644 RCV001880271 rs778030031 |
1926 | R>Q | Joubert syndrome large_intestine Leber congenital amaurosis [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860525 rs1592784618 CA385984785 RCV001002935 |
1930 | K>* | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001199656 CA10604125 RCV001384490 rs886042360 RCV000593831 |
1935 | E>* | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000383603 CA10638670 rs886049877 RCV000287925 RCV000292713 RCV000350008 RCV000389353 |
1948 | D>Y | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000050153 rs386834159 |
1950 | F>missing | Meckel syndrome, type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2035367210 RCV001068093 |
1958 | L>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760286 RCV001247983 rs562477272 RCV001835317 CA6711621 |
1962 | R>K | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001225208 CA385983811 rs1354836663 |
1974 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000546047 rs1555201796 |
1978 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201627 CA277735 rs371525247 RCV000598256 |
1978 | R>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278749 rs1178644600 |
1991 | K>T | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000313250 RCV001589312 RCV000260876 RCV000261978 RCV000332376 RCV000319395 RCV000371771 CA6711610 RCV000765113 RCV001278748 RCV001265796 rs183071230 |
2000 | I>V | Retinitis pigmentosa Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000521358 RCV001829510 CA6711590 rs376307540 |
2008 | A>V | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2035124136 RCV001049397 |
2015 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201548 CA277694 rs779262951 |
2024 | Y>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6711577 RCV001858802 rs756608200 RCV000994954 |
2033 | E>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6711551 rs377000187 RCV001278747 |
2048 | G>R | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001345563 RCV001830609 rs987259388 RCV000730959 CA241148052 |
2064 | E>G | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001559190 RCV001559192 RCV000342104 RCV001559193 CA10605131 rs886043119 RCV001559191 |
2065 | N>D | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs753687613 CA385979609 RCV000994953 RCV001858801 |
2079 | L>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000501294 rs771454167 RCV000487320 RCV000201679 |
2093 | V>missing | Bardet-Biedl syndrome 14 Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053430 rs755933899 CA6711527 RCV001272015 |
2107 | K>R | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324205 rs773459272 RCV001830988 CA6711523 |
2112 | R>Q | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6711521 RCV001057039 rs762397066 RCV001827358 |
2118 | R>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752851135 CA241147785 RCV001829008 RCV001242979 |
2124 | G>E | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6711500 rs184323010 RCV000529924 RCV000765112 |
2131 | E>G | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs117852025 COSM550178 VAR_075696 CA179856 |
2134 | I>T | lung JBTS5; benign variant Joubert syndrome 5 (jbts5) Leber congenital amaurosis 10 (lca10) [Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs191613017 CA202959 RCV000178636 RCV000637007 |
2151 | L>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA241147777 rs191613017 RCV001214028 |
2151 | L>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001112726 CA6711493 RCV001112725 RCV001114075 RCV001114076 rs769886105 RCV001112727 |
2165 | N>Y | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000504346 RCV000199740 CA338829 rs535765861 |
2183 | H>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs772603458 RCV001828277 RCV001368383 RCV000307481 CA6711473 |
2186 | H>Q | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001112721 rs2034338160 RCV001112722 RCV001112723 RCV001112720 RCV001112724 |
2189 | S>I | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278746 rs1316821873 CA385978233 |
2191 | H>Q | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001828885 CA6711467 RCV001236941 rs779145328 |
2200 | E>G | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002056756 VAR_066997 CA6711462 RCV001833611 RCV000636992 rs374852145 RCV000483414 |
2210 | R>C | Bardet-Biedl syndrome 14 Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3710849 rs371833544 RCV001245037 RCV000765111 RCV000417476 RCV001276484 CA6711461 |
2210 | R>H | upper_aerodigestive_tract Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2034330893 RCV001053194 |
2212 | E>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242079 CA385977789 rs1214939378 RCV001828990 |
2224 | R>Q | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001110733 rs2034240720 RCV001110735 RCV001110734 RCV001110737 RCV001110736 |
2232 | I>V | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6711438 rs758864226 RCV001865825 RCV001335144 |
2251 | A>G | Joubert syndrome Joubert syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2034235109 RCV001244300 |
2254 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA207418 VAR_067192 RCV000193732 rs77778467 RCV000132681 RCV000490488 |
2263 | S>G | found in a patient with LCA10; unknown pathological significance Leber congenital amaurosis 10 Leber congenital amaurosis 10 (lca10) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001834010 CA6711433 RCV001231931 rs535571590 |
2264 | K>R | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000596012 CA6711432 rs760540562 RCV000636987 |
2266 | W>* | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001198658 rs2033943524 |
2281 | E>V | Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457302 rs587783017 RCV000144468 |
2290 | N>missing | Joubert syndrome Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000787561 CA385976524 rs1592726020 |
2291 | Q>* | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001074469 rs2033937635 |
2298 | Q>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201753 CA279539 rs863225187 |
2313 | Y>* | Joubert syndrome 5 (jbts5) Joubert syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001835133 rs148173636 CA6711404 RCV001242635 |
2314 | N>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001830418 RCV001340192 rs772648931 CA6711380 |
2329 | E>G | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA336181 RCV000196137 rs863224794 |
2336 | G>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001354642 CA6711377 rs200969981 RCV001835188 RCV001243915 |
2339 | R>W | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001265797 RCV001851281 RCV000484031 RCV001829393 rs759725378 CA6711360 |
2357 | E>G | Joubert syndrome Leber congenital amaurosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001245322 rs183387506 RCV000730172 RCV001830605 CA6711358 |
2359 | I>L | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA241147107 RCV001828853 RCV001232629 rs1006780282 |
2360 | H>P | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001113984 rs754462052 RCV001109943 RCV001113983 RCV001113982 CA6711352 RCV001113985 |
2376 | P>S | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001276481 CA385973894 rs1565777729 RCV000757074 |
2378 | A>G | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6711335 RCV001060935 RCV001827384 rs776216960 |
2390 | T>R | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000400288 RCV000282628 rs189556433 COSM147573 RCV000335271 RCV000465588 RCV000374397 CA6711331 RCV000295385 |
2396 | D>Y | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 stomach Leber congenital amaurosis 10 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1233939358 CA385973201 RCV001040258 RCV001832399 |
2414 | E>K | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000544687 RCV000338001 RCV000369181 RCV000407058 RCV001753771 RCV000298062 rs200178519 RCV001835778 CA6711306 RCV000407054 |
2426 | D>N | Bardet-Biedl syndrome 14 Joubert syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768777116 RCV000287879 RCV001855180 |
2437 | K>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636989 RCV001835024 CA6711296 rs534440681 |
2437 | K>N | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2033241849 RCV001074503 |
2441 | L>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252440 RCV001828540 RCV001242969 RCV001075283 CA6711285 rs201382524 |
2447 | K>T | Intellectual disability Joubert syndrome Leber congenital amaurosis Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000275155 RCV000327940 CA6711279 rs754398792 RCV000384840 RCV000287868 RCV000326424 |
2459 | P>S | Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000714704 RCV000714705 RCV000413111 rs569673313 |
2465 | E>missing | Bardet-Biedl syndrome 14 Joubert syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385972089 RCV001833893 RCV001217953 rs1159836808 |
2466 | F>S | Joubert syndrome Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA385972093 RCV001857318 RCV000513597 rs1159836808 |
2466 | F>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001091345 rs2040644756 |
1 | M>V | No |
ClinVar dbSNP |
|
|
RCV000478865 rs1064795491 CA16619603 |
2 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA241168932 rs997653455 |
4 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6712930 rs748657371 |
4 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712931 rs770326046 |
4 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046797710 CA241168931 |
5 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs929739343 CA241168924 |
5 | I>M | No |
ClinGen TOPMed |
|
|
CA385990527 rs1434632102 |
5 | I>R | No |
ClinGen Ensembl |
|
|
CA385990411 rs1165769352 |
11 | M>I | No |
ClinGen gnomAD |
|
|
CA6712928 rs769179397 |
14 | D>N | No |
ClinGen ExAC |
|
|
CA385990360 rs1425716932 |
15 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385990331 rs1182703361 |
17 | D>A | No |
ClinGen gnomAD |
|
|
rs779867970 CA6712926 |
20 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757919599 CA6712925 |
23 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6712921 rs757196729 |
25 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6712922 rs757196729 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385990213 rs1356762631 |
25 | A>V | No |
ClinGen gnomAD |
|
|
rs765211180 CA6712919 |
31 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385990117 rs1390112820 |
32 | L>S | No |
ClinGen gnomAD |
|
|
rs751721358 CA6712917 |
33 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712916 rs574089816 |
34 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA241168621 rs868347260 |
36 | E>* | No |
ClinGen Ensembl |
|
|
CA385989991 rs1378182544 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA385989930 rs1200899018 |
42 | S>R | No |
ClinGen gnomAD |
|
|
rs755840362 CA6712901 |
45 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755840362 CA385989906 |
45 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1018550969 CA241168610 |
46 | E>K | No |
ClinGen TOPMed |
|
|
CA385989856 rs878853363 |
50 | H>D | No |
ClinGen gnomAD |
|
|
rs1264332374 CA385989836 |
51 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385989813 rs1169026059 |
52 | F>L | No |
ClinGen TOPMed |
|
|
CA6712899 rs767353670 |
54 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385989775 rs1592706963 |
56 | Q>* | No |
ClinGen Ensembl |
|
|
rs1350378313 CA385989769 |
56 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1272110007 CA385989747 |
59 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6712881 rs777331611 |
63 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1166981120 CA385989440 |
64 | Q>E | No |
ClinGen gnomAD |
|
|
rs965922201 CA241167352 |
64 | Q>H | No |
ClinGen TOPMed |
|
|
CA6712879 rs748129496 |
66 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs754757278 CA6712878 |
70 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs750607382 CA6712877 |
72 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385989263 rs1292246271 |
72 | E>K | No |
ClinGen TOPMed |
|
|
rs1361487879 CA385989221 |
73 | V>A | No |
ClinGen TOPMed |
|
|
CA385989220 rs1243132131 |
74 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1243132131 CA385989219 |
74 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6712876 rs779010679 |
75 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA233682 rs373913704 |
76 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437952702 CA385989149 |
77 | G>E | No |
ClinGen TOPMed |
|
|
rs761233532 CA6712873 |
82 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490527042 CA385988900 |
85 | N>K | No |
ClinGen gnomAD |
|
|
CA241166995 rs1004064531 |
86 | Q>K | No |
ClinGen Ensembl |
|
|
rs281865191 RCV000086285 |
89 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000413097 CA16042812 rs1057517886 |
90 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1294292132 CA385988751 |
91 | V>I | No |
ClinGen gnomAD |
|
|
CA241166985 rs865927858 |
95 | E>* | No |
ClinGen Ensembl |
|
|
rs386834153 CA385988629 |
97 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781389594 CA6712834 |
101 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752144368 CA6712832 |
103 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6712831 rs766609759 |
103 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA385987715 rs1290241933 |
108 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1364720 rs758781417 CA6712830 |
108 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6712828 rs764867143 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750018041 CA6712829 |
110 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs562747993 CA6712827 |
111 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA241165275 rs1051440600 |
111 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6712826 rs776101043 |
114 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM3384656 RCV000179538 rs150296134 CA246817 RCV000724859 |
114 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA246815 rs140236736 RCV000179537 |
115 | N>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6712821 rs770126103 |
123 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385987464 rs1311709485 |
124 | L>* | No |
ClinGen TOPMed |
|
|
CA385987434 rs1222421581 |
126 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385987436 rs1222421581 |
126 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1222421581 CA385987437 |
126 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6712819 rs748429036 |
126 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs781101346 CA385987415 |
127 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6712818 rs781101346 RCV000732950 |
127 | K>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6712817 rs755112866 |
128 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385987396 rs755112866 |
128 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024695999 CA241165126 |
131 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA385987306 rs1592693373 |
133 | D>N | No |
ClinGen Ensembl |
|
|
rs1205221239 CA385987272 |
134 | M>I | No |
ClinGen gnomAD |
|
|
rs1469416559 CA385987286 |
134 | M>V | No |
ClinGen gnomAD |
|
|
CA385987200 rs1355121435 |
138 | L>S | No |
ClinGen gnomAD |
|
|
CA385987203 rs1592693326 |
138 | L>V | No |
ClinGen Ensembl |
|
|
rs377409636 CA6712814 |
140 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712813 rs750776051 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs910085555 CA241165098 |
143 | K>I | No |
ClinGen Ensembl |
|
|
CA385987097 rs1261226265 |
145 | N>S | No |
ClinGen TOPMed |
|
|
rs1452465499 RCV000596455 |
146 | E>missing | No |
ClinVar dbSNP |
|
|
CA6712783 rs779213141 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385986683 rs1162631374 |
150 | L>F | No |
ClinGen TOPMed |
|
|
rs753374614 CA385986678 |
151 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777487613 CA6712780 |
153 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1289983971 CA385986661 |
154 | E>K | No |
ClinGen gnomAD |
|
|
CA385986649 rs1565917034 |
155 | A>G | No |
ClinGen Ensembl |
|
|
rs752236431 CA6712779 |
158 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA385986628 rs1389804424 |
158 | E>D | No |
ClinGen gnomAD |
|
|
rs752236431 CA6712778 |
158 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1022285852 CA241158394 |
158 | E>K | No |
ClinGen Ensembl |
|
|
CA385986619 rs1326795517 |
159 | N>K | No |
ClinGen TOPMed |
|
|
CA385986588 rs1303983701 |
164 | R>G | No |
ClinGen gnomAD |
|
|
rs866648017 CA241158380 |
164 | R>I | No |
ClinGen Ensembl |
|
|
CA6712770 rs768916610 |
167 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA385986544 rs200063017 |
168 | R>L | Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760856790 CA6712769 |
168 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173162718 CA385986527 |
171 | K>R | No |
ClinGen TOPMed |
|
|
CA6712746 rs774484028 |
174 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712744 rs749806999 |
175 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1196636239 CA385986477 |
177 | C>S | No |
ClinGen gnomAD |
|
|
CA6712742 rs368025801 |
178 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773591434 CA6712743 |
178 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747783237 CA6712741 |
181 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1227463887 CA385986448 |
181 | I>V | No |
ClinGen gnomAD |
|
|
CA385986431 rs1433166610 |
183 | Y>C | No |
ClinGen TOPMed |
|
|
rs1452019494 CA385986400 |
187 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779765809 CA6712736 |
188 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000501759 CA6712737 rs746511786 |
188 | D>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA385986387 rs758327445 |
189 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6712735 rs758327445 |
189 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217031983 CA385986370 |
192 | E>K | No |
ClinGen TOPMed |
|
|
CA6712732 rs750359797 |
194 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs946493620 CA241157910 |
198 | R>G | No |
ClinGen Ensembl |
|
|
rs761225738 CA385986330 |
198 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs761225738 CA6712731 |
198 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA385986300 rs1488224594 |
202 | S>T | No |
ClinGen Ensembl |
|
|
rs137852835 CA385986280 |
205 | R>G | Leber congenital amaurosis 10 (lca10) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs547665147 CA385986279 |
205 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547665147 CA6712727 |
205 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000994957 CA6712724 rs763473957 |
210 | K>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6712725 rs763473957 |
210 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770133870 CA385986234 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712722 rs770133870 |
212 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355601041 CA385986225 |
213 | Y>H | No |
ClinGen gnomAD |
|
|
rs1443831395 CA385986150 |
218 | Y>C | No |
ClinGen gnomAD |
|
|
CA385986111 rs1479489657 |
221 | E>A | No |
ClinGen TOPMed |
|
|
rs1262468600 CA385985939 |
226 | T>A | No |
ClinGen gnomAD |
|
|
RCV000086301 rs62640578 |
227 | E>missing | No |
ClinVar dbSNP |
|
|
CA385985887 rs1257451610 |
229 | N>D | No |
ClinGen TOPMed |
|
|
CA241157516 rs886139335 |
229 | N>S | No |
ClinGen TOPMed |
|
|
rs1217225357 CA385985767 |
235 | Q>R | No |
ClinGen gnomAD |
|
|
rs1205775718 CA385985751 |
236 | N>S | No |
ClinGen TOPMed |
|
|
rs762951997 CA6712701 |
241 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385985648 rs1242794384 |
241 | K>N | No |
ClinGen Ensembl |
|
|
rs199790246 CA233680 |
241 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385985629 rs949161264 |
242 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1592671618 RCV001008977 |
247 | V>missing | No |
ClinVar dbSNP |
|
|
rs1409885182 CA385985537 |
247 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs991079890 CA241157454 |
252 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385985423 rs1304212721 |
253 | M>I | No |
ClinGen TOPMed |
|
|
CA241157439 rs937852486 |
253 | M>L | No |
ClinGen TOPMed |
|
|
rs367772168 CA6712699 |
257 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191954750 CA385985341 |
257 | Y>N | No |
ClinGen Ensembl |
|
|
rs979378806 CA241157434 |
258 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA385984574 rs1189629938 |
260 | M>L | No |
ClinGen gnomAD |
|
|
CA385984576 rs1189629938 |
260 | M>V | No |
ClinGen gnomAD |
|
|
CA385984527 rs1331352301 |
262 | A>T | No |
ClinGen gnomAD |
|
|
rs1242440672 CA385984506 |
264 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA241157430 rs902444632 |
265 | H>P | No |
ClinGen Ensembl |
|
|
CA385984390 rs1217313312 |
270 | V>A | No |
ClinGen TOPMed |
|
|
rs1267404843 CA385984386 |
271 | I>L | No |
ClinGen gnomAD |
|
|
CA385984352 rs1592671313 |
273 | Q>K | No |
ClinGen Ensembl |
|
|
rs1324369897 CA385984346 |
273 | Q>R | No |
ClinGen TOPMed |
|
|
rs1254347359 CA385984320 |
274 | L>F | No |
ClinGen TOPMed |
|
|
CA6712698 rs45502896 |
277 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA150925 RCV000132682 rs45502896 RCV000114209 VAR_064397 |
277 | E>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs547702101 CA6712695 |
279 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745369780 CA385984237 |
280 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA385984242 rs575493480 |
280 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745369780 CA385984239 |
280 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs745369780 CA6712693 |
280 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385984219 rs1320456807 |
281 | Y>F | No |
ClinGen gnomAD |
|
|
CA385984082 rs1307751555 |
285 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs555462587 CA6712683 |
285 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385984038 rs1231144680 |
288 | L>F | No |
ClinGen gnomAD |
|
|
CA241156990 rs989381337 |
288 | L>R | No |
ClinGen Ensembl |
|
|
rs958209779 CA241156987 |
290 | D>G | No |
ClinGen Ensembl |
|
|
rs1453946434 CA385983925 |
295 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6712679 rs765404668 |
297 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017259177 CA385983854 |
299 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1017259177 CA241156969 |
299 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762372051 CA6712678 |
299 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754420383 CA6712676 |
300 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6712675 rs764495570 |
302 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712673 rs535146522 |
310 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1191270790 CA385983608 |
312 | E>K | No |
ClinGen gnomAD |
|
|
CA385983548 rs1477102616 |
314 | K>E | No |
ClinGen TOPMed |
|
|
CA6712671 rs771613334 |
314 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482549144 CA385983160 |
317 | L>F | No |
ClinGen gnomAD |
|
|
rs1354148420 CA385983135 |
319 | S>P | No |
ClinGen gnomAD |
|
|
CA385983062 rs774072453 |
321 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759074453 CA6712648 |
321 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712645 rs762450740 |
322 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6712646 rs536127246 |
322 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317615827 CA385983042 |
323 | E>K | No |
ClinGen gnomAD |
|
|
RCV000513726 rs1555224610 CA385983031 |
324 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6712644 rs772772527 |
325 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385982986 rs748165819 |
327 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385982989 rs1206377305 |
327 | Y>D | No |
ClinGen TOPMed |
|
|
rs748165819 CA6712642 |
327 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA385982927 rs1388365600 |
330 | M>I | No |
ClinGen gnomAD |
|
|
CA6712640 rs768520045 |
332 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761590486 CA241155351 |
333 | N>D | No |
ClinGen Ensembl |
|
|
CA6712638 rs376033047 |
333 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749370083 CA6712636 |
336 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1471970975 CA385982782 |
342 | Q>K | No |
ClinGen gnomAD |
|
|
rs995244918 CA241155317 |
345 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385982721 rs995244918 |
345 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385982706 rs1411950710 |
347 | K>E | No |
ClinGen TOPMed |
|
|
rs753281190 CA6712633 |
348 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767722828 CA241155310 |
349 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6712632 rs767722828 |
349 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6712631 rs573285637 |
351 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415965131 CA385982645 |
351 | M>T | No |
ClinGen TOPMed |
|
|
rs1206964618 CA385982628 |
352 | A>S | No |
ClinGen gnomAD |
|
|
rs751142320 CA6712630 |
353 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1171157076 CA385982552 |
355 | Q>P | No |
ClinGen gnomAD |
|
|
rs1012672445 CA385981579 |
356 | G>C | No |
ClinGen TOPMed |
|
|
rs1012672445 CA241154820 |
356 | G>S | No |
ClinGen TOPMed |
|
|
rs1403887401 CA385981573 |
356 | G>V | No |
ClinGen TOPMed |
|
|
CA385981555 rs1592656929 |
358 | Q>* | No |
ClinGen Ensembl |
|
|
rs188164241 CA179860 |
360 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999155745 CA241154786 |
361 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1250515491 CA385981461 |
365 | K>T | No |
ClinGen gnomAD |
|
|
CA241154780 rs1040298053 |
366 | M>I | No |
ClinGen TOPMed |
|
|
rs756538253 CA241154782 |
366 | M>T | No |
ClinGen Ensembl |
|
|
rs1187150184 CA385981437 |
367 | L>F | No |
ClinGen gnomAD |
|
|
CA241154778 rs886648506 |
368 | T>I | No |
ClinGen TOPMed |
|
|
rs373414042 CA6712622 |
369 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385981383 rs1343199874 |
371 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749566358 CA6712621 |
378 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385981277 rs1565907222 |
379 | E>A | No |
ClinGen Ensembl |
|
|
CA385981261 rs1335623016 |
380 | K>R | No |
ClinGen gnomAD |
|
|
CA6712620 rs375428355 |
384 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs899142789 CA241154748 |
388 | L>V | No |
ClinGen Ensembl |
|
|
CA241154744 rs891165640 |
390 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385981092 rs794727106 |
392 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA240156 RCV000174603 rs794727106 |
392 | L>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs764079993 CA6712607 |
398 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA385980927 rs1345842665 |
398 | A>V | No |
ClinGen TOPMed |
|
|
rs760581741 CA6712606 |
399 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772026871 CA6712605 |
400 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712604 rs772026871 |
400 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712603 rs773578133 |
400 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712601 rs769694131 |
403 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748251474 CA6712600 |
403 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs936616163 CA241152547 |
407 | M>T | No |
ClinGen Ensembl |
|
|
rs369091884 CA6712599 |
407 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747554978 CA6712598 |
408 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6712597 rs780354351 |
409 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6712596 rs758783379 |
409 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712595 rs750012169 |
410 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1269182131 CA385980733 |
416 | L>* | No |
ClinGen TOPMed |
|
|
CA385980732 rs1490932099 |
416 | L>F | No |
ClinGen TOPMed |
|
|
rs753367041 CA6712592 |
416 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229677005 CA385980716 |
417 | K>N | No |
ClinGen gnomAD |
|
|
rs763556203 CA6712591 |
418 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385980711 rs1348304576 |
418 | E>K | No |
ClinGen gnomAD |
|
|
CA6712590 rs376808205 |
419 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385980698 rs1292471251 |
419 | K>R | No |
ClinGen gnomAD |
|
|
CA241152500 rs1004217500 |
424 | E>K | No |
ClinGen TOPMed |
|
|
rs571621861 CA6712589 |
425 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs904835977 CA241152496 |
429 | L>P | No |
ClinGen TOPMed |
|
|
rs1410113515 CA385980577 |
430 | A>D | No |
ClinGen gnomAD |
|
|
rs767366207 CA6712586 |
430 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712584 rs774079070 |
432 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6712585 rs774079070 |
432 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200211587 RCV000244107 CA6712583 |
433 | D>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385980536 rs1592642538 |
434 | A>G | No |
ClinGen Ensembl |
|
|
rs761987341 CA6712582 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs946432921 CA241152480 |
436 | E>D | No |
ClinGen TOPMed |
|
|
rs551533386 CA6712581 |
436 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385980502 rs1391834397 |
437 | K>N | No |
ClinGen TOPMed |
|
|
CA385980445 rs1238835456 |
442 | V>D | No |
ClinGen TOPMed |
|
|
CA385980419 rs1292015235 |
444 | A>V | No |
ClinGen TOPMed |
|
|
CA6712576 rs772635605 |
453 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385980321 rs772635605 |
453 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385980274 rs764101974 |
455 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712562 rs764101974 |
455 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383788970 CA385980209 |
460 | D>V | No |
ClinGen TOPMed |
|
|
CA385980196 rs1247193378 |
461 | A>V | No |
ClinGen TOPMed |
|
|
rs374199052 CA240603 RCV000174952 |
462 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385980175 rs1437841365 |
464 | E>K | No |
ClinGen gnomAD |
|
|
RCV000722268 rs1565900023 |
465 | I>missing | No |
ClinVar dbSNP |
|
|
CA385980146 COSM260068 rs868405253 |
466 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM260068 rs868405253 CA241151970 |
466 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774740127 CA6712558 |
468 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774740127 CA385980137 |
468 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs771224749 CA6712557 |
468 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385980130 rs1361189290 |
469 | K>E | No |
ClinGen gnomAD |
|
|
CA385980073 rs1390508407 |
476 | D>G | No |
ClinGen gnomAD |
|
|
CA6712555 rs748917889 |
477 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1565899902 CA385980041 |
479 | I>F | No |
ClinGen Ensembl |
|
|
rs371088254 CA241151942 |
479 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA385980016 rs777299440 |
480 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483943072 CA385980012 |
481 | I>V | No |
ClinGen gnomAD |
|
|
rs747644093 CA6712551 |
488 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385979907 rs1485562020 |
488 | K>T | No |
ClinGen gnomAD |
|
|
rs1231028240 CA385979895 |
489 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1340148485 CA385979889 |
489 | L>P | No |
ClinGen TOPMed |
|
|
rs1231028240 CA385979893 |
489 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1232443399 CA385979868 |
491 | L>M | No |
ClinGen TOPMed |
|
|
rs1228969929 CA385979800 |
495 | D>G | No |
ClinGen gnomAD |
|
|
rs1381355659 CA385979777 |
497 | L>I | No |
ClinGen gnomAD |
|
|
CA385979765 rs1301341386 |
498 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6712550 rs780896294 |
501 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241151896 rs1035966537 |
502 | A>T | No |
ClinGen Ensembl |
|
|
rs761301690 CA6712548 |
503 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1309677372 CA385979675 |
504 | R>T | No |
ClinGen gnomAD |
|
|
rs868850665 CA241151892 |
505 | E>* | No |
ClinGen Ensembl |
|
|
rs370057064 CA241151889 |
505 | E>D | No |
ClinGen Ensembl |
|
|
CA241151880 rs866571949 RCV000502930 |
506 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs866571949 CA241151869 |
506 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6712546 rs758141110 |
507 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6712531 rs779860471 |
510 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6712529 rs750163383 |
512 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758420144 CA6712530 |
512 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6712528 rs545853165 |
513 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6712527 rs756290676 |
514 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62640579 RCV000086279 |
516 | D>* | No |
ClinVar dbSNP |
|
|
CA6712524 rs147371999 |
520 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6712523 rs751732097 |
522 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385979380 rs1365473537 |
523 | S>G | No |
ClinGen gnomAD |
|
|
rs1325063481 CA385979284 |
529 | Q>* | No |
ClinGen gnomAD |
|
|
rs1457324877 CA385979277 |
529 | Q>R | No |
ClinGen gnomAD |
|
|
CA6712522 rs766779533 |
530 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6712521 rs763559949 RCV001091340 |
531 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs773678171 CA6712520 |
532 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6712518 rs761507465 |
533 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193494120 CA385979190 |
535 | N>S | No |
ClinGen gnomAD |
|
|
rs1465414886 CA385979179 |
536 | Q>* | No |
ClinGen gnomAD |
|
|
rs1465414886 CA385979182 |
536 | Q>E | No |
ClinGen gnomAD |
|
|
rs776435281 CA6712517 |
538 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288183320 CA385979113 |
541 | E>Q | No |
ClinGen TOPMed |
|
|
CA6712503 rs762272190 |
542 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385979039 rs1180698614 |
542 | I>T | No |
ClinGen TOPMed |
|
|
rs1186821575 CA385979035 |
543 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385979033 rs1158175459 |
543 | E>G | No |
ClinGen TOPMed |
|
|
rs1172780916 CA385979023 |
544 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1565897246 CA385979025 |
544 | S>T | No |
ClinGen Ensembl |
|
|
CA6712501 rs373498346 |
546 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763632792 CA385978994 |
548 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA385979000 rs1202346182 |
548 | E>K | No |
ClinGen gnomAD |
|
|
rs760415289 CA6712499 |
549 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712498 rs774824252 |
549 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771636035 CA6712497 |
551 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385978968 rs1446939096 |
552 | L>M | No |
ClinGen TOPMed |
|
|
CA241151014 rs77818876 |
553 | K>E | No |
ClinGen Ensembl |
|
|
rs727503855 RCV000591146 |
555 | K>missing | No |
ClinVar dbSNP |
|
|
rs369231584 CA6712496 |
555 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241151012 rs369231584 |
555 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77980773 CA241150998 |
556 | I>F | No |
ClinGen Ensembl |
|
|
CA233677 COSM1493078 rs727503854 |
556 | I>N | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs727503854 CA241150973 |
556 | I>T | No |
ClinGen TOPMed |
|
|
CA6712495 rs561018129 |
557 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385978878 rs1312704091 |
558 | Q>H | No |
ClinGen gnomAD |
|
|
CA241150967 rs367816078 |
559 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385978849 rs1592633932 |
560 | A>V | No |
ClinGen Ensembl |
|
|
CA385978842 rs1475139450 |
561 | Q>* | No |
ClinGen gnomAD |
|
|
rs1369090662 CA385978815 |
563 | R>G | No |
ClinGen gnomAD |
|
|
CA385978810 rs1189673274 |
563 | R>T | No |
ClinGen gnomAD |
|
|
CA385978786 rs1314002296 |
565 | K>Q | No |
ClinGen gnomAD |
|
|
rs1422337501 CA385978768 |
566 | R>K | No |
ClinGen gnomAD |
|
|
rs1257063139 CA385978747 |
567 | S>I | No |
ClinGen gnomAD |
|
|
rs755120113 CA6712491 |
569 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1272411609 RCV000579059 CA385978708 |
570 | S>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA385978709 rs1272411609 |
570 | S>* | No |
ClinGen gnomAD |
|
|
CA385978416 rs1187828326 |
574 | T>S | No |
ClinGen TOPMed |
|
|
rs1387784536 CA385978392 |
576 | D>N | No |
ClinGen TOPMed |
|
|
rs1326037535 CA385978311 |
582 | N>D | No |
ClinGen gnomAD |
|
|
CA385978298 rs1317137881 |
582 | N>K | No |
ClinGen Ensembl |
|
|
rs1459958084 CA385978295 |
583 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867094910 CA241150510 |
585 | Q>K | No |
ClinGen Ensembl |
|
|
CA6712479 rs759047003 |
586 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385978239 rs1406032550 |
587 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385978237 rs1406032550 |
587 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1157837226 CA385978224 |
588 | R>K | No |
ClinGen gnomAD |
|
|
rs1248387288 CA385978210 |
589 | I>K | No |
ClinGen gnomAD |
|
|
CA6712477 rs770829686 |
589 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191606002 CA385978199 |
590 | S>N | No |
ClinGen gnomAD |
|
|
CA385978181 rs1467663801 |
591 | E>D | No |
ClinGen gnomAD |
|
|
rs1283118657 CA385978141 |
594 | L>F | No |
ClinGen gnomAD |
|
|
rs1277146133 CA385978094 |
598 | S>N | No |
ClinGen gnomAD |
|
|
rs903065406 CA241150485 |
599 | L>P | No |
ClinGen Ensembl |
|
|
CA385978066 rs1235245850 |
600 | K>R | No |
ClinGen TOPMed |
|
|
COSM3813152 CA385978037 rs1321355912 |
602 | M>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385978043 rs1370861150 |
602 | M>V | No |
ClinGen gnomAD |
|
|
CA385978013 rs1305945843 |
603 | S>R | No |
ClinGen TOPMed |
|
|
rs1343722211 CA385977992 |
605 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1372601569 CA385977289 |
615 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA241149842 rs960898171 |
616 | L>P | No |
ClinGen TOPMed |
|
|
CA6712444 rs776346956 |
617 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385977269 rs1293971049 |
617 | I>V | No |
ClinGen gnomAD |
|
|
rs1163798418 CA385977255 |
618 | E>Q | No |
ClinGen gnomAD |
|
|
rs1203763812 CA385977226 |
620 | E>K | No |
ClinGen TOPMed |
|
|
RCV000175482 rs766608755 |
621 | R>missing | No |
ClinVar dbSNP |
|
|
CA385977165 rs1483974021 |
624 | E>* | No |
ClinGen TOPMed |
|
|
CA6712443 rs772400263 |
625 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746124813 CA385977134 |
626 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712441 rs779087591 |
627 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6712440 rs572123947 |
628 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385977111 rs1565890837 |
630 | I>V | No |
ClinGen Ensembl |
|
|
CA385977098 rs1213124542 |
632 | K>E | No |
ClinGen gnomAD |
|
|
rs1449699158 CA385977084 |
633 | F>L | No |
ClinGen TOPMed |
|
|
rs749692839 CA6712439 |
635 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs781572206 CA6712436 |
637 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1345723331 CA385977043 |
638 | K>E | No |
ClinGen gnomAD |
|
|
rs1270185161 CA385977019 |
641 | V>D | No |
ClinGen TOPMed |
|
|
CA385977021 rs886049883 |
641 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385977016 rs1228513635 |
642 | E>K | No |
ClinGen gnomAD |
|
|
CA385976990 rs1327625381 |
645 | K>* | No |
ClinGen gnomAD |
|
|
CA6712426 rs761705359 |
649 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402439930 CA385976943 |
651 | M>I | No |
ClinGen gnomAD |
|
|
CA385976944 rs1402439930 |
651 | M>I | No |
ClinGen gnomAD |
|
|
rs772165172 CA241149758 |
651 | M>T | No |
ClinGen TOPMed |
|
|
CA385976949 rs1261357837 |
651 | M>V | No |
ClinGen TOPMed |
|
|
rs1222757000 CA385976864 |
662 | Q>P | No |
ClinGen gnomAD |
|
|
rs79705698 CA150892 VAR_064398 |
664 | D>G | Joubert syndrome 5 (jbts5) [Ensembl] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6712424 rs376320828 |
666 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190923253 CA385976833 |
666 | D>V | No |
ClinGen TOPMed |
|
|
CA385976831 rs1374826842 |
667 | V>I | No |
ClinGen gnomAD |
|
|
CA385976824 rs1408745685 |
668 | K>E | No |
ClinGen Ensembl |
|
|
rs774720743 CA6712422 |
670 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385976811 rs774720743 |
670 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1478321639 CA385976793 |
672 | T>I | No |
ClinGen TOPMed |
|
|
CA6712421 rs771348538 |
676 | I>T | No |
ClinGen ExAC |
|
|
CA6712420 rs375523390 |
677 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484533940 COSM944242 CA385976737 |
681 | R>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1484533940 CA385976738 |
681 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1439546880 CA385975599 |
686 | I>M | No |
ClinGen gnomAD |
|
|
CA385975611 rs1477632291 |
686 | I>T | No |
ClinGen TOPMed |
|
|
CA385975614 rs1189284598 |
686 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6712405 rs760544310 |
687 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA241149481 rs932362741 |
687 | E>V | No |
ClinGen TOPMed |
|
|
CA385975582 rs1194744691 |
688 | S>P | No |
ClinGen gnomAD |
|
|
COSM260066 rs1425613490 CA385975546 |
689 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA223790 rs398124411 |
690 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368000105 CA241149480 |
693 | G>A | No |
ClinGen gnomAD |
|
|
CA385975372 rs763128587 |
696 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1333667660 CA385975387 |
696 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200454865 CA6712401 |
697 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10606373 rs886044122 RCV000304476 |
697 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6712400 rs748627817 |
699 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712398 rs769216455 |
705 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385975254 rs769216455 |
705 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355084851 CA385975213 |
706 | D>E | No |
ClinGen TOPMed |
|
|
CA6712397 rs747360314 |
706 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385975208 rs1242888498 |
707 | Q>E | No |
ClinGen TOPMed |
|
|
CA241149479 rs267603713 |
708 | L>F | No |
ClinGen TOPMed |
|
|
RCV000086282 rs62640580 |
709 | T>missing | No |
ClinVar dbSNP |
|
|
CA6712396 rs377142184 COSM1628908 |
710 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs377142184 CA385975151 COSM1628908 |
710 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6712395 rs758037479 |
711 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs745530399 CA6712394 |
711 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012211766 CA241149475 |
713 | E>K | No |
ClinGen TOPMed |
|
|
CA385975103 rs1440259390 |
714 | E>K | No |
ClinGen TOPMed |
|
|
CA385975083 rs1231122388 |
715 | L>* | No |
ClinGen gnomAD |
|
|
rs778429030 CA6712393 |
715 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1468563363 CA385975078 |
716 | R>G | No |
ClinGen gnomAD |
|
|
rs1254381878 CA385975056 |
717 | Q>R | No |
ClinGen gnomAD |
|
|
rs756725320 CA6712392 |
718 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1160323129 CA385975028 |
719 | L>H | No |
ClinGen TOPMed |
|
|
rs1467799663 CA385975022 |
720 | R>G | No |
ClinGen gnomAD |
|
|
CA385975009 rs1378402668 |
721 | E>K | No |
ClinGen TOPMed |
|
|
CA6712390 rs764117043 |
723 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712391 rs372963403 |
723 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592608053 CA385974938 |
726 | A>G | No |
ClinGen Ensembl |
|
|
CA241149474 rs774662598 |
727 | I>M | No |
ClinGen Ensembl |
|
|
CA385974931 rs1278326023 |
727 | I>V | No |
ClinGen gnomAD |
|
|
RCV000436721 CA6712388 rs752513342 |
728 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1372332421 CA385974892 |
729 | Y>F | No |
ClinGen gnomAD |
|
|
rs1394028787 CA385974847 |
732 | Q>H | No |
ClinGen gnomAD |
|
|
rs1438792443 CA385974860 |
732 | Q>K | No |
ClinGen gnomAD |
|
|
CA385974831 rs1319166464 |
734 | A>T | No |
ClinGen gnomAD |
|
|
CA385974800 rs1402258383 |
736 | A>G | No |
ClinGen gnomAD |
|
|
CA6712366 rs754736974 |
740 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924082284 COSM695518 CA241149447 |
742 | H>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs751441268 CA6712365 |
743 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193394531 CA385974720 |
745 | K>E | No |
ClinGen gnomAD |
|
|
CA6712364 rs765366980 |
747 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA385974678 rs1360220092 |
751 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1265194114 CA385974657 |
754 | E>V | No |
ClinGen gnomAD |
|
|
rs764190376 CA6712361 |
755 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6712358 COSM1200806 rs369868981 |
758 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6712357 rs774825731 |
759 | V>F | No |
ClinGen ExAC |
|
|
rs1488946278 CA385974622 |
760 | F>S | No |
ClinGen TOPMed |
|
|
rs1355023474 CA385974608 |
762 | G>R | No |
ClinGen gnomAD |
|
|
rs1234960859 CA385974604 |
763 | I>L | No |
ClinGen gnomAD |
|
|
CA241149443 rs781177836 |
763 | I>T | No |
ClinGen TOPMed |
|
|
rs1407644543 CA385974596 |
764 | D>Y | No |
ClinGen gnomAD |
|
|
rs1260673781 CA385974563 |
769 | I>L | No |
ClinGen TOPMed |
|
|
CA385974552 rs1201508785 |
770 | A>V | No |
ClinGen TOPMed |
|
|
rs748976722 CA385974538 |
773 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs748976722 CA6712355 |
773 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs1475759325 CA385974529 |
774 | A>G | No |
ClinGen gnomAD |
|
|
rs1475759325 CA385974528 |
774 | A>V | No |
ClinGen gnomAD |
|
|
rs1026121755 CA241149442 |
778 | N>S | No |
ClinGen Ensembl |
|
|
rs1260107106 CA385974475 |
780 | Q>* | No |
ClinGen gnomAD |
|
|
rs1159716737 CA385974467 |
780 | Q>H | No |
ClinGen TOPMed |
|
|
rs769446893 CA6712353 |
780 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000760734 CA385974395 rs1206723575 |
784 | L>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA385974390 rs1305783046 |
784 | L>F | No |
ClinGen gnomAD |
|
|
CA385974393 rs1206723575 |
784 | L>S | No |
ClinGen gnomAD |
|
|
CA385974378 rs1257701359 |
785 | I>L | No |
ClinGen gnomAD |
|
|
CA385974360 rs1234175613 |
786 | H>P | No |
ClinGen gnomAD |
|
|
rs1217229722 CA385973447 |
792 | E>K | No |
ClinGen gnomAD |
|
|
rs1320430157 CA385973410 |
793 | N>K | No |
ClinGen gnomAD |
|
|
CA385973365 rs1243808714 |
795 | E>D | No |
ClinGen gnomAD |
|
|
rs1279457496 CA385973383 |
795 | E>K | No |
ClinGen gnomAD |
|
|
rs1317237800 CA385973358 |
796 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1387389738 CA385973338 |
797 | K>* | No |
ClinGen TOPMed |
|
|
rs1387389738 CA385973336 |
797 | K>Q | No |
ClinGen TOPMed |
|
|
CA6712336 rs771440576 |
801 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1326068086 CA385973150 |
802 | E>Q | No |
ClinGen gnomAD |
|
|
rs927571972 CA241149235 |
803 | D>G | No |
ClinGen TOPMed |
|
|
CA385973066 rs1442460263 |
804 | S>Y | No |
ClinGen gnomAD |
|
|
CA385973029 rs1391847759 |
805 | L>F | No |
ClinGen gnomAD |
|
|
CA6712335 rs762633090 |
805 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385972922 rs1346200126 |
809 | N>D | No |
ClinGen gnomAD |
|
|
CA6712332 rs368436564 |
809 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712333 rs528447511 |
809 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA241149233 rs955251811 |
814 | V>L | No |
ClinGen TOPMed |
|
|
CA385972703 rs768448895 |
816 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385972706 rs374656545 |
816 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385972676 rs1251392498 |
817 | H>P | No |
ClinGen gnomAD |
|
|
CA6712330 rs746999270 |
824 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758193337 CA6712328 |
826 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385972275 rs1429403008 |
828 | S>R | No |
ClinGen gnomAD |
|
|
rs752115971 CA6712319 |
829 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs752115971 CA6712318 |
829 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385972083 rs1212886248 |
837 | S>P | No |
ClinGen gnomAD |
|
|
rs1227513489 CA385972047 |
839 | T>A | No |
ClinGen gnomAD |
|
|
CA385972017 rs1327835175 |
840 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385971973 rs376251793 |
842 | E>A | No |
ClinGen ESP gnomAD |
|
|
CA241149028 rs376251793 |
842 | E>G | No |
ClinGen ESP gnomAD |
|
|
rs1340246815 CA385971959 |
843 | E>K | No |
ClinGen gnomAD |
|
|
CA241149027 rs867725723 |
844 | K>N | No |
ClinGen Ensembl |
|
|
rs971707663 CA241149025 |
845 | R>K | No |
ClinGen TOPMed |
|
|
CA385971864 rs1452252038 |
847 | L>P | No |
ClinGen TOPMed |
|
|
rs1313832672 CA385971834 |
849 | D>V | No |
ClinGen gnomAD |
|
|
CA385971840 rs1565877637 |
849 | D>Y | No |
ClinGen Ensembl |
|
|
CA385971805 rs1479349959 |
851 | V>G | No |
ClinGen TOPMed |
|
|
CA10587160 rs886038694 RCV000253147 |
852 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6712315 rs761569725 |
854 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs761569725 CA241149024 |
854 | D>V | No |
ClinGen ExAC TOPMed |
|
|
rs1172138698 CA385971786 |
854 | D>Y | No |
ClinGen gnomAD |
|
|
rs775965379 CA241149022 |
856 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003364525 CA241149023 |
856 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385971769 rs1168542133 |
857 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385971760 rs936219639 |
858 | V>A | No |
ClinGen gnomAD |
|
|
rs936219639 CA241149021 |
858 | V>E | No |
ClinGen gnomAD |
|
|
CA385971762 rs1477392000 |
858 | V>I | No |
ClinGen gnomAD |
|
|
rs1383687911 CA385971757 |
859 | K>E | No |
ClinGen TOPMed |
|
|
rs746864708 CA6712312 |
860 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1197446816 CA385971634 |
864 | L>F | No |
ClinGen gnomAD |
|
|
rs1468696400 CA385971624 |
865 | L>P | No |
ClinGen gnomAD |
|
|
CA241149017 rs934685879 |
866 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376831402 CA6712298 |
867 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241149016 rs903257336 |
869 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs866602436 CA241149015 |
870 | M>I | No |
ClinGen Ensembl |
|
|
rs1164443581 CA385971515 |
873 | D>V | No |
ClinGen TOPMed |
|
|
rs763720636 CA6712295 |
876 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1565877152 CA385971438 |
878 | I>T | No |
ClinGen Ensembl |
|
|
CA385971428 rs1395509521 |
879 | L>V | No |
ClinGen gnomAD |
|
|
CA6712293 rs775029423 |
881 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385971395 rs1389791714 |
882 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385971363 rs1158905003 |
884 | R>K | No |
ClinGen gnomAD |
|
|
rs1471150710 CA385971337 |
886 | I>V | No |
ClinGen gnomAD |
|
|
rs1378402831 CA385971323 |
887 | T>A | No |
ClinGen gnomAD |
|
|
rs1592589950 CA385971268 |
891 | V>G | No |
ClinGen Ensembl |
|
|
CA385971260 rs1206156618 |
892 | N>D | No |
ClinGen Ensembl |
|
|
RCV000592414 rs1555216720 CA385971212 |
895 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs952606593 CA241149013 |
897 | I>V | No |
ClinGen Ensembl |
|
|
rs748248497 CA6712288 |
901 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1353471879 CA385971123 |
902 | T>A | No |
ClinGen gnomAD |
|
|
rs376876422 CA6712287 |
902 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768822859 RCV000722395 CA385971109 |
903 | L>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs768822859 CA6712286 |
903 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6712285 rs747065944 |
905 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000382757 CA10603872 rs886042153 |
908 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs369746468 CA241149012 |
908 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712284 rs369746468 |
908 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385971040 rs1193820521 |
909 | Q>R | No |
ClinGen TOPMed |
|
|
CA6712283 rs375348494 |
910 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385971004 rs1434834681 |
912 | K>E | No |
ClinGen gnomAD |
|
|
rs1565876618 RCV000722837 |
913 | E>missing | No |
ClinVar dbSNP |
|
|
rs372321551 CA6712282 |
914 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712280 rs754213516 |
917 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6712279 rs763778682 |
917 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1489447514 CA385970895 |
919 | N>S | No |
ClinGen gnomAD |
|
|
rs868377408 CA241149011 |
920 | E>K | No |
ClinGen Ensembl |
|
|
rs1442875662 CA385970864 |
922 | L>F | No |
ClinGen TOPMed |
|
|
rs1216567271 CA385970858 |
923 | S>L | No |
ClinGen gnomAD |
|
|
CA241149009 rs1000757966 |
924 | M>I | No |
ClinGen TOPMed |
|
|
rs1302941513 CA385970856 |
924 | M>V | No |
ClinGen gnomAD |
|
|
rs1217541183 CA385970842 |
925 | E>D | No |
ClinGen gnomAD |
|
|
CA6712277 rs752161315 |
925 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs759408789 CA6712275 |
927 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs961715276 CA241149008 |
928 | V>I | No |
ClinGen TOPMed |
|
|
CA385970822 rs770836483 |
929 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6712273 rs770836483 |
929 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA385970797 rs1415377574 |
932 | I>N | No |
ClinGen gnomAD |
|
|
CA6712271 rs772933929 |
933 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA385970783 rs1413348538 |
934 | C>Y | No |
ClinGen gnomAD |
|
|
rs1419815767 CA385970777 |
935 | L>S | No |
ClinGen gnomAD |
|
|
CA385970060 rs1387291760 |
942 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs75220808 CA285829 |
943 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385969976 rs1214119586 |
946 | I>V | No |
ClinGen gnomAD |
|
|
rs967541984 CA241148668 |
947 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6712252 rs781454435 |
948 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775859572 CA6712251 |
950 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6712250 rs772489636 |
953 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6712249 rs745919958 |
955 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385969803 rs1399113668 |
955 | N>K | No |
ClinGen gnomAD |
|
|
rs1443848622 CA385969809 |
955 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6712248 rs546463648 |
958 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6712247 rs771427414 |
959 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6712246 rs749780586 |
960 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1352027495 CA385969737 |
960 | S>P | No |
ClinGen gnomAD |
|
|
rs1180594304 CA385969667 |
963 | E>* | No |
ClinGen gnomAD |
|
|
CA385969638 rs1194547053 |
964 | L>R | No |
ClinGen gnomAD |
|
|
rs756472731 CA6712243 |
967 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA385969559 rs1592574519 |
968 | Q>* | No |
ClinGen Ensembl |
|
|
rs1317447038 CA385969507 |
970 | N>K | No |
ClinGen gnomAD |
|
|
CA241148667 rs951200727 |
970 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6712241 rs780805963 RCV000592129 |
971 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6712240 rs754677258 |
972 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA241148666 rs917038129 |
974 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1039332206 CA241148665 |
976 | Y>C | No |
ClinGen Ensembl |
|
|
rs765840717 CA6712239 |
977 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365035075 CA385969377 |
977 | R>K | No |
ClinGen gnomAD |
|
|
CA6712237 rs758309007 |
978 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA241148664 rs993055432 |
979 | I>V | No |
ClinGen TOPMed |
|
|
rs1457663420 CA385969319 |
980 | L>W | No |
ClinGen gnomAD |
|
|
CA385969205 rs1160930595 |
985 | M>V | No |
ClinGen gnomAD |
|
|
rs765057723 CA6712235 |
986 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs761697552 CA6712234 |
987 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000481864 rs1064793733 |
990 | T>missing | No |
ClinVar dbSNP |
|
|
CA385969057 rs1435194969 |
991 | S>G | No |
ClinGen gnomAD |
|
|
CA385969069 rs1435194969 |
991 | S>R | No |
ClinGen gnomAD |
|
|
rs1265448566 CA385969042 |
992 | N>D | No |
ClinGen gnomAD |
|
|
rs1429307487 CA386007218 |
1002 | S>F | No |
ClinGen gnomAD |
|
|
rs1555213204 RCV000599456 |
1005 | E>missing | No |
ClinVar dbSNP |
|
|
rs1487962552 CA386007176 |
1005 | E>G | No |
ClinGen gnomAD |
|
|
rs1201691161 CA386007169 |
1006 | Q>E | No |
ClinGen gnomAD |
|
|
rs898733071 CA241171296 |
1007 | V>A | No |
ClinGen TOPMed |
|
|
CA6712224 rs754587192 |
1008 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865994703 CA241171283 |
1009 | S>P | No |
ClinGen Ensembl |
|
|
CA241171261 rs371235643 |
1011 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs1340463039 CA386007064 |
1014 | L>P | No |
ClinGen gnomAD |
|
|
rs1397893965 CA386007040 |
1016 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1592551125 CA386007030 |
1017 | T>A | No |
ClinGen Ensembl |
|
|
rs1400211369 CA386007021 |
1018 | K>E | No |
ClinGen gnomAD |
|
|
rs1347323506 CA386007013 |
1018 | K>R | No |
ClinGen gnomAD |
|
|
CA6712222 rs746666486 |
1019 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241171219 rs916545578 |
1022 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1402730114 CA386006917 |
1026 | Q>* | No |
ClinGen gnomAD |
|
|
rs1168283001 CA386006903 |
1027 | A>T | No |
ClinGen gnomAD |
|
|
CA386006830 rs1233652317 |
1032 | T>A | No |
ClinGen gnomAD |
|
|
CA386006815 RCV000579022 rs1555213161 |
1033 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1421960607 CA386006813 |
1033 | K>T | No |
ClinGen gnomAD |
|
|
rs1236012068 CA386006643 |
1035 | G>D | No |
ClinGen gnomAD |
|
|
CA386006789 rs1195864585 |
1035 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA16621641 rs1064797172 RCV000487535 |
1036 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1232167894 CA386006609 |
1037 | E>D | No |
ClinGen TOPMed |
|
|
rs1565856210 CA386006623 |
1037 | E>Q | No |
ClinGen Ensembl |
|
|
CA386006589 rs1279900967 |
1039 | S>N | No |
ClinGen TOPMed |
|
|
rs374299663 CA386006580 |
1040 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712209 rs374299663 |
1040 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267990663 CA386006566 |
1041 | D>N | No |
ClinGen Ensembl |
|
|
rs1468626083 CA386006552 |
1042 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769024604 CA6712206 |
1047 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379160939 CA386006441 |
1050 | S>N | No |
ClinGen gnomAD |
|
|
rs746608152 CA6712205 |
1050 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA386006446 rs1240996430 |
1050 | S>R | No |
ClinGen gnomAD |
|
|
rs779569679 CA386006412 |
1052 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446390940 CA386006419 |
1052 | I>V | No |
ClinGen gnomAD |
|
|
rs1389950539 CA386006389 |
1055 | I>V | No |
ClinGen gnomAD |
|
|
CA386006370 rs1267970567 |
1056 | S>* | No |
ClinGen TOPMed |
|
|
rs1378002033 CA386006340 |
1058 | K>R | No |
ClinGen gnomAD |
|
|
rs771815959 CA386006328 |
1059 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771815959 CA386006330 |
1059 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712202 rs771815959 |
1059 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62640571 RCV000086288 |
1060 | T>missing | No |
ClinVar dbSNP |
|
|
CA241168749 rs948383352 |
1060 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1201486566 CA386006302 |
1061 | M>V | No |
ClinGen gnomAD |
|
|
rs786205620 RCV000171470 |
1063 | E>* | No |
ClinVar dbSNP |
|
|
rs1438812123 CA386006263 |
1063 | E>D | No |
ClinGen TOPMed |
|
|
rs1397256061 CA386006273 |
1063 | E>K | No |
ClinGen TOPMed |
|
|
rs1302718800 CA386006248 |
1064 | M>R | No |
ClinGen TOPMed |
|
|
CA6712198 rs753838921 COSM944233 |
1067 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757210438 CA6712199 |
1067 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276779845 CA386006196 |
1068 | N>S | No |
ClinGen gnomAD |
|
|
rs1434068646 CA386006171 |
1070 | R>K | No |
ClinGen gnomAD |
|
|
rs780870106 COSM1128454 CA6712195 |
1072 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386006108 rs1401831541 |
1075 | H>R | No |
ClinGen gnomAD |
|
|
rs763278930 CA6712192 |
1079 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763278930 CA6712191 |
1079 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs750466529 CA6712190 |
1080 | Y>D | No |
ClinGen ExAC TOPMed |
|
|
CA386006018 rs1170407252 |
1081 | E>V | No |
ClinGen gnomAD |
|
|
rs1459549768 CA386006006 |
1082 | H>R | No |
ClinGen gnomAD |
|
|
rs1457801026 CA386006011 |
1082 | H>Y | No |
ClinGen TOPMed |
|
|
rs1592538767 CA386005994 |
1083 | L>* | No |
ClinGen Ensembl |
|
|
RCV000478507 CA6712187 rs372918770 |
1084 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769274354 CA6712186 COSM279835 |
1084 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA241168615 rs966339864 |
1085 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1325799398 CA386005973 |
1085 | T>N | No |
ClinGen TOPMed |
|
|
CA6712185 rs760934388 |
1086 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444459946 CA386005934 |
1088 | K>R | No |
ClinGen TOPMed |
|
|
CA6712182 rs745557499 |
1092 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778508890 CA6712181 |
1093 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049569883 CA241168600 |
1093 | R>H | No |
ClinGen gnomAD |
|
|
CA386005868 rs778508890 |
1093 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338354123 CA386005816 |
1096 | E>D | No |
ClinGen gnomAD |
|
|
CA386005763 rs1334379060 |
1100 | K>I | No |
ClinGen gnomAD |
|
|
rs770569475 CA6712180 |
1102 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA386005726 rs1360432045 |
1103 | E>A | No |
ClinGen gnomAD |
|
|
CA6712162 rs376357897 |
1104 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386004756 rs1565853251 |
1105 | T>I | No |
ClinGen Ensembl |
|
|
CA6712161 rs772886007 |
1105 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA386004751 rs1205714751 |
1106 | K>E | No |
ClinGen TOPMed |
|
|
CA6712159 rs567185914 |
1110 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000994956 CA6712158 rs780796789 |
1113 | K>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA386004592 rs1456594952 |
1115 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1180795401 CA386004599 |
1115 | E>K | No |
ClinGen gnomAD |
|
|
CA386004589 rs1456594952 |
1115 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386004581 rs1250610101 |
1116 | Q>E | No |
ClinGen gnomAD |
|
|
rs1221941031 CA386004560 |
1117 | M>L | No |
ClinGen gnomAD |
|
|
CA386004541 rs1323441443 |
1118 | L>V | No |
ClinGen gnomAD |
|
|
rs1171335377 CA386004501 |
1120 | D>G | No |
ClinGen TOPMed |
|
|
rs746874509 CA6712156 |
1125 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712154 rs757526726 |
1127 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6712153 rs753884656 |
1127 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs71454116 CA241167731 |
1129 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386004310 rs71454116 RCV000591748 |
1129 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA386004197 rs533366479 |
1134 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6712150 rs369874586 |
1134 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712151 rs533366479 |
1134 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11836796 CA241167712 |
1136 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386004099 rs1160522995 |
1138 | I>N | No |
ClinGen gnomAD |
|
|
rs766095901 CA6712147 |
1140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386003959 rs769362204 |
1143 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6712144 rs772550529 |
1143 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712141 rs776629339 |
1146 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs768639908 CA6712140 |
1147 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386003833 rs372190684 |
1148 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386003701 rs1315984770 |
1153 | S>T | No |
ClinGen gnomAD |
|
|
rs753136596 CA241167587 |
1154 | K>E | No |
ClinGen Ensembl |
|
|
COSM469010 rs1050202680 CA386003676 |
1154 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA241167586 rs1050202680 |
1154 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1280602204 CA386002336 |
1156 | R>S | No |
ClinGen gnomAD |
|
|
CA386002263 rs1384409779 |
1159 | S>C | No |
ClinGen gnomAD |
|
|
rs1303484289 CA386002250 |
1160 | D>Y | No |
ClinGen gnomAD |
|
|
rs140907638 CA241166099 |
1162 | A>T | No |
ClinGen 1000Genomes |
|
|
CA386002190 rs1404095603 |
1163 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764868103 CA241166046 |
1167 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944295351 CA241166034 |
1167 | E>A | No |
ClinGen Ensembl |
|
|
rs764868103 CA6712128 |
1167 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764868103 CA241166062 |
1167 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565849296 CA386002065 |
1168 | I>M | No |
ClinGen Ensembl |
|
|
CA6712127 rs572075052 |
1170 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1183095802 CA386002002 |
1171 | A>G | No |
ClinGen gnomAD |
|
|
rs912561113 CA241165999 |
1172 | Q>L | No |
ClinGen gnomAD |
|
|
CA6712126 rs776053422 |
1173 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712125 rs768552077 |
1174 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1225822652 CA386001906 |
1175 | S>Y | No |
ClinGen TOPMed |
|
|
CA241165951 rs868351171 |
1176 | R>M | No |
ClinGen Ensembl |
|
|
CA386001862 rs1397801155 |
1177 | D>E | No |
ClinGen gnomAD |
|
|
rs1030787885 CA386001881 |
1177 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs867372772 CA241165942 |
1179 | E>* | No |
ClinGen Ensembl |
|
|
rs996255630 CA241165933 |
1180 | V>A | No |
ClinGen TOPMed |
|
|
rs1402260550 CA386001766 |
1181 | E>G | No |
ClinGen gnomAD |
|
|
CA6712121 rs775207303 |
1185 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1189042096 CA386001644 |
1186 | Q>H | No |
ClinGen gnomAD |
|
|
rs920028502 CA241165902 |
1186 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386001574 rs1458804284 |
1190 | Y>S | No |
ClinGen gnomAD |
|
|
CA6712118 rs778042472 |
1191 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs867172785 CA241165887 |
1191 | Q>R | No |
ClinGen Ensembl |
|
|
rs1158718513 CA386001404 |
1192 | A>E | No |
ClinGen gnomAD |
|
|
CA386001410 rs1384127943 |
1192 | A>S | No |
ClinGen gnomAD |
|
|
CA386001342 rs1361648372 |
1195 | D>Y | No |
ClinGen gnomAD |
|
|
rs1268464181 CA386001299 |
1197 | K>R | No |
ClinGen TOPMed |
|
|
CA386001277 rs1268460229 |
1199 | L>P | No |
ClinGen gnomAD |
|
|
rs1212204184 CA386001256 |
1201 | A>T | No |
ClinGen gnomAD |
|
|
rs375065584 CA223792 |
1202 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764921630 CA6712107 |
1204 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386001185 rs1240887746 |
1205 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386001159 rs1356145243 |
1206 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1277959694 CA386001140 |
1207 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753350609 CA6712105 RCV000502351 |
1209 | S>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA241164680 rs753350609 |
1209 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712104 rs199844833 |
1212 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298290891 CA386001053 |
1213 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386001029 rs1308720371 |
1215 | A>T | No |
ClinGen TOPMed |
|
|
CA386001019 rs1420933299 |
1215 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6712103 rs760537228 |
1216 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592857332 CA386001012 |
1216 | T>I | No |
ClinGen Ensembl |
|
|
rs775402017 CA6712102 |
1217 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs770015278 CA386000979 |
1222 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770015278 CA6712100 |
1222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022942488 CA241164632 |
1224 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1188505248 CA386000952 |
1226 | S>F | No |
ClinGen TOPMed |
|
|
CA6712099 rs748336768 |
1227 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386000941 rs1282211647 |
1228 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386000933 rs1204832311 |
1229 | Q>R | No |
ClinGen gnomAD |
|
|
CA386000916 rs1221399740 |
1231 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386000914 rs1221399740 |
1231 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781366470 CA6712098 |
1231 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1158159341 CA386000902 |
1233 | A>G | No |
ClinGen gnomAD |
|
|
rs1344828907 CA386000887 |
1235 | N>S | No |
ClinGen gnomAD |
|
|
VAR_031060 rs7307793 CA150908 |
1237 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA241164567 rs1051413485 |
1239 | E>Q | No |
ClinGen gnomAD |
|
|
rs892089815 CA241164562 |
1241 | K>R | No |
ClinGen TOPMed |
|
|
CA386000826 rs1342978055 |
1244 | E>G | No |
ClinGen gnomAD |
|
|
CA6712095 rs780697927 |
1245 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6712094 rs758878983 |
1247 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386000803 rs1385444561 |
1247 | Q>R | No |
ClinGen TOPMed |
|
|
CA386000795 rs1403821904 |
1248 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386000794 rs1403821904 |
1248 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746213611 CA6712093 |
1249 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6712091 rs756885819 |
1250 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756885819 CA386000785 |
1250 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195090301 CA386000776 |
1251 | Y>F | No |
ClinGen gnomAD |
|
|
CA386000768 rs1189187820 |
1252 | A>V | No |
ClinGen gnomAD |
|
|
rs763801479 CA6712089 |
1253 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386000764 rs763801479 |
1253 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265176838 CA386000734 |
1258 | N>H | No |
ClinGen gnomAD |
|
|
rs765483163 RCV000171469 |
1259 | R>missing | No |
ClinVar dbSNP |
|
|
rs375609644 CA6712087 |
1260 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000487868 rs1064797171 |
1262 | H>missing | No |
ClinVar dbSNP |
|
|
CA6712086 rs752253318 |
1262 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752253318 CA386000705 |
1262 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712083 rs774144082 |
1264 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747214849 CA6712082 |
1265 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA386000671 rs1468942944 |
1268 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6712081 rs776991513 |
1270 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412133967 CA386000654 |
1271 | R>* | No |
ClinGen gnomAD |
|
|
rs551071701 CA386000653 |
1271 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6712078 rs551071701 |
1271 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62640581 CA227967 RCV000086289 |
1272 | R>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs775753103 CA6712077 |
1272 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs531461478 CA6712076 |
1273 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1245011932 CA386000641 |
1274 | F>I | No |
ClinGen gnomAD |
|
|
CA386000628 rs1182033105 |
1275 | S>I | No |
ClinGen gnomAD |
|
|
rs267603711 CA241164380 |
1276 | G>E | No |
ClinGen Ensembl |
|
|
CA6712073 rs757556647 |
1277 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712074 rs757556647 |
1277 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712072 rs749710169 |
1277 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272148975 CA386000606 |
1279 | P>H | No |
ClinGen gnomAD |
|
|
rs755799758 CA6712070 |
1282 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6712068 rs766956153 |
1283 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765521933 CA6712067 |
1285 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751458477 CA6712066 |
1285 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA386000551 rs1328822477 |
1287 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374030998 CA241164297 |
1288 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA386000547 rs1592855859 |
1288 | K>T | No |
ClinGen Ensembl |
|
|
rs926686679 CA241164274 |
1289 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs762646924 CA6712064 |
1290 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565845673 CA386000517 |
1292 | Q>H | No |
ClinGen Ensembl |
|
|
CA386000512 rs1444244014 |
1293 | L>P | No |
ClinGen gnomAD |
|
|
rs1565845628 CA386000472 |
1299 | K>E | No |
ClinGen Ensembl |
|
|
CA6712062 rs773195058 |
1299 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1460182061 CA386000461 |
1300 | I>T | No |
ClinGen TOPMed |
|
|
CA386000451 rs764380923 |
1301 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712061 rs764380923 |
1301 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241164230 rs980836821 |
1303 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6712060 rs761010723 |
1304 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761010723 CA386000433 |
1304 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386000428 rs1592855571 |
1305 | K>E | No |
ClinGen Ensembl |
|
|
CA386000409 rs1288962135 |
1307 | S>Y | No |
ClinGen gnomAD |
|
|
rs1417251616 CA386000405 |
1308 | Q>* | No |
ClinGen TOPMed |
|
|
rs772060641 CA6712058 |
1311 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6712057 rs746025281 |
1311 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs774705706 CA6712056 |
1312 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA241164144 rs867971347 |
1314 | M>I | No |
ClinGen Ensembl |
|
|
CA386000360 rs1437895064 |
1314 | M>T | No |
ClinGen gnomAD |
|
|
CA6712055 rs771517365 |
1314 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10603175 RCV000324284 rs886042020 |
1315 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749620392 CA6712054 |
1316 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1361449401 CA386000343 |
1316 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386000346 rs1424046447 |
1316 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1317958 rs1417537739 CA386000330 |
1318 | T>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000520056 CA386000310 rs1346175871 |
1321 | M>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA6712051 RCV000827318 rs377156725 |
1326 | K>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs543621728 CA6712050 |
1326 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA241164071 rs959651787 |
1327 | G>V | No |
ClinGen Ensembl |
|
|
CA386000216 COSM197665 rs1266623305 |
1328 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386000191 rs1285349002 |
1330 | E>Q | No |
ClinGen TOPMed |
|
|
CA386000131 rs1321486985 |
1333 | S>N | No |
ClinGen TOPMed |
|
|
rs754444501 CA6712049 |
1334 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754444501 CA386000119 |
1334 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488354388 CA386000096 |
1335 | L>S | No |
ClinGen gnomAD |
|
|
CA241164069 rs988798072 |
1340 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6712048 rs751141164 |
1341 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000757076 rs1213286417 |
1343 | K>missing | No |
ClinVar dbSNP |
|
|
CA385999354 rs1470809740 |
1346 | N>S | No |
ClinGen gnomAD |
|
|
CA385999356 rs1296813654 |
1346 | N>Y | No |
ClinGen TOPMed |
|
|
rs1339975972 CA385999345 |
1347 | W>* | No |
ClinGen TOPMed |
|
|
CA241163016 rs954833469 |
1348 | H>N | No |
ClinGen Ensembl |
|
|
rs1285246761 CA385999339 |
1348 | H>P | No |
ClinGen TOPMed |
|
|
rs1285246761 CA385999338 |
1348 | H>R | No |
ClinGen TOPMed |
|
|
CA385999331 rs1192848571 |
1349 | M>T | No |
ClinGen gnomAD |
|
|
CA6712033 rs763469027 |
1350 | K>N | No |
ClinGen ExAC |
|
|
rs1345830550 CA385999315 |
1351 | I>T | No |
ClinGen Ensembl |
|
|
CA241162957 rs961918767 |
1360 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385999237 rs188502327 |
1363 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779645669 CA6712026 |
1364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758363274 CA6712025 |
1364 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA244173 rs184143186 |
1368 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs565584005 CA241162921 |
1371 | E>K | No |
ClinGen 1000Genomes |
|
|
rs62640582 RCV000086290 |
1372 | I>missing | No |
ClinVar dbSNP |
|
|
rs1409174774 CA385999177 |
1372 | I>V | No |
ClinGen TOPMed |
|
|
rs1337676817 CA385999159 |
1374 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs368322148 CA385999154 |
1375 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6712023 rs532041890 |
1378 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385999088 rs1175360748 |
1381 | E>A | No |
ClinGen gnomAD |
|
|
RCV000177660 rs794727563 CA244169 |
1384 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA385999028 rs1167762537 |
1385 | T>I | No |
ClinGen gnomAD |
|
|
rs1427374639 CA385999026 |
1386 | I>V | No |
ClinGen gnomAD |
|
|
rs374319245 CA6712021 |
1388 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1592850794 CA385998915 |
1392 | E>K | No |
ClinGen Ensembl |
|
|
CA385998850 rs1459653241 |
1396 | Q>* | No |
ClinGen gnomAD |
|
|
CA385998852 rs1459653241 |
1396 | Q>E | No |
ClinGen gnomAD |
|
|
rs1592850725 CA385998822 |
1397 | N>K | No |
ClinGen Ensembl |
|
|
CA6712019 rs766457509 |
1397 | N>T | No |
ClinGen ExAC |
|
|
rs919975758 CA241161722 |
1399 | F>V | No |
ClinGen TOPMed |
|
|
rs766652224 CA6711998 |
1400 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1271052660 CA385997765 |
1400 | H>R | No |
ClinGen TOPMed |
|
|
rs2036582730 RCV001090824 |
1403 | R>missing | No |
ClinVar dbSNP |
|
|
CA6711997 rs758461632 |
1403 | R>K | No |
ClinGen ExAC |
|
|
rs797045457 CA208486 RCV000194358 |
1405 | M>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA385997656 rs1357618188 |
1405 | M>V | No |
ClinGen gnomAD |
|
|
CA385997634 rs1239977559 |
1406 | A>T | No |
ClinGen gnomAD |
|
|
rs1337331662 CA385997608 |
1407 | W>R | No |
ClinGen gnomAD |
|
|
CA385997576 rs1304521961 |
1408 | D>Y | No |
ClinGen gnomAD |
|
|
rs370163730 CA241161703 |
1410 | R>K | No |
ClinGen ESP TOPMed |
|
|
CA385997506 rs750553809 |
1412 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6711996 rs750553809 |
1412 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA149314 rs183655276 |
1413 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385997451 rs1422185944 |
1415 | E>A | No |
ClinGen gnomAD |
|
|
COSM268876 CA6711994 rs776812442 |
1416 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs374582514 CA6711993 COSM3688471 |
1416 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs776812442 CA241161661 |
1416 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775279240 CA6711992 |
1417 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233675 rs201504946 |
1417 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385997366 rs1270203468 |
1419 | D>G | No |
ClinGen gnomAD |
|
|
CA385997375 rs1472584241 |
1419 | D>H | No |
ClinGen gnomAD |
|
|
rs1555208180 RCV000480535 |
1420 | I>missing | No |
ClinVar dbSNP |
|
|
CA6711990 rs758212905 |
1421 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs904195851 CA241161602 |
1422 | D>E | No |
ClinGen gnomAD |
|
|
rs1291063380 CA385997291 |
1422 | D>G | No |
ClinGen gnomAD |
|
|
CA385997278 rs1353027764 |
1423 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6711989 rs774025278 |
1423 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238040214 CA385997259 |
1424 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385997232 rs1285152017 |
1425 | Q>H | No |
ClinGen gnomAD |
|
|
CA241161586 rs1023139659 |
1425 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA241161559 rs1049408690 |
1428 | I>K | No |
ClinGen Ensembl |
|
|
rs770939514 CA6711988 |
1428 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA241161543 rs564214956 |
1431 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6711986 rs564214956 |
1431 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6711984 rs747949998 |
1432 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385997047 rs1157241942 |
1433 | Q>R | No |
ClinGen gnomAD |
|
|
rs976926346 CA241161512 |
1434 | K>R | No |
ClinGen Ensembl |
|
|
CA6711970 rs138095601 |
1435 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6711969 rs138095601 |
1435 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780996316 CA385996761 |
1442 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385996750 rs772233823 |
1442 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780996316 CA6711965 |
1442 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050330421 CA241161270 |
1443 | P>S | No |
ClinGen TOPMed |
|
|
rs1361495928 CA385996694 |
1445 | P>S | No |
ClinGen TOPMed |
|
|
CA6711963 RCV000377717 rs746106679 |
1446 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs757356455 CA385996605 |
1448 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711961 rs757356455 |
1448 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350050053 CA385996553 |
1450 | P>L | No |
ClinGen TOPMed |
|
|
rs573085287 CA6711960 |
1451 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385996499 rs1353742023 |
1453 | L>F | No |
ClinGen TOPMed |
|
|
CA6711957 rs753059143 |
1453 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711956 rs369902368 |
1454 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711952 rs375111436 |
1456 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375111436 CA241161212 |
1456 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385996374 rs1358912267 |
1460 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769732992 CA6711950 |
1461 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711949 rs761761702 |
1464 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs576877716 CA6711948 COSM274519 |
1465 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6711947 rs746876620 |
1466 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385996259 rs1437455492 |
1466 | I>V | No |
ClinGen TOPMed |
|
|
CA6711944 rs749344978 |
1471 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs557052114 CA6711943 |
1472 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756582234 CA6711942 |
1474 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760443127 CA6711928 |
1483 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760443127 CA241160284 |
1483 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711926 rs771133112 |
1491 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301298077 CA385995582 |
1494 | N>S | No |
ClinGen gnomAD |
|
|
CA385995571 rs1328019408 |
1495 | I>M | No |
ClinGen TOPMed |
|
|
rs1026690396 CA241160229 |
1496 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385995561 rs1345994179 |
1497 | S>L | No |
ClinGen gnomAD |
|
|
rs769989974 CA6711923 |
1501 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385995531 rs1592837842 |
1502 | I>V | No |
ClinGen Ensembl |
|
|
rs1410895455 CA385995525 COSM944228 |
1503 | N>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000342091 CA10605897 rs886043748 |
1504 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385995502 rs1266234548 |
1506 | R>T | No |
ClinGen gnomAD |
|
|
CA6711919 rs780306236 |
1512 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA241160193 rs926053041 |
1514 | E>* | No |
ClinGen Ensembl |
|
|
rs1233557572 CA385995450 |
1515 | R>K | No |
ClinGen TOPMed |
|
|
rs1364752193 CA385995447 |
1515 | R>S | No |
ClinGen gnomAD |
|
|
CA241160151 rs367941106 |
1516 | E>G | No |
ClinGen Ensembl |
|
|
rs1481682848 CA385995445 |
1516 | E>K | No |
ClinGen TOPMed |
|
|
rs1362963682 CA385995422 |
1519 | I>T | No |
ClinGen gnomAD |
|
|
rs1165389126 CA385995406 |
1521 | E>D | No |
ClinGen TOPMed |
|
|
CA385995413 rs1475658217 |
1521 | E>K | No |
ClinGen TOPMed |
|
|
rs372266683 CA241160113 |
1524 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385995265 rs1337146202 |
1526 | E>* | No |
ClinGen gnomAD |
|
|
CA385995251 rs1565835986 |
1527 | M>L | No |
ClinGen Ensembl |
|
|
rs767217932 CA6711909 |
1527 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA241158095 rs367555566 |
1528 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385995234 rs367555566 |
1528 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385995213 rs759438587 |
1529 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711908 rs759438587 |
1529 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748206094 CA6711905 COSM3417241 |
1530 | K>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748206094 CA6711906 |
1530 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs903186241 CA241158038 |
1531 | S>P | No |
ClinGen TOPMed |
|
|
rs374372192 CA6711904 |
1532 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711903 rs769238441 |
1533 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385995048 rs1254734687 |
1537 | I>M | No |
ClinGen gnomAD |
|
|
CA6711901 rs780398884 |
1539 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778141154 CA6711900 |
1544 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385994867 rs1217427527 |
1545 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1555207198 CA385994884 |
1545 | M>V | No |
ClinGen Ensembl |
|
|
CA241158004 rs878947013 |
1550 | N>S | No |
ClinGen Ensembl |
|
|
CA6711898 rs746305733 |
1551 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555207186 RCV000658661 |
1552 | K>missing | No |
ClinVar dbSNP |
|
|
rs778517756 CA6711897 |
1553 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6711896 rs756946490 |
1554 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6711894 rs753293680 |
1556 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385994544 rs1167696567 |
1560 | Q>* | No |
ClinGen gnomAD |
|
|
CA6711893 rs763605289 |
1561 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs371157150 CA6711892 |
1561 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6711891 rs371157150 |
1561 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184633634 CA385994509 |
1562 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385994454 rs1446851203 |
1564 | E>K | No |
ClinGen gnomAD |
|
|
CA6711890 rs767548455 |
1565 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711888 rs751408783 |
1566 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405095364 CA385994381 |
1567 | R>G | No |
ClinGen gnomAD |
|
|
CA6711887 rs765514039 |
1567 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs376242512 CA385994161 |
1569 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711873 rs752299840 |
1571 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711872 rs780960290 |
1572 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385993977 rs1354501230 |
1574 | V>L | No |
ClinGen gnomAD |
|
|
rs1203769698 CA385993940 |
1576 | K>E | No |
ClinGen TOPMed |
|
|
rs751352443 CA6711871 |
1577 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385993920 rs1239470234 |
1577 | H>Y | No |
ClinGen gnomAD |
|
|
rs62640573 RCV000086292 CA227971 |
1578 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385993890 rs1286409741 |
1578 | E>G | No |
ClinGen gnomAD |
|
|
rs62640573 CA385993899 |
1578 | E>Q | No |
ClinGen Ensembl |
|
|
rs760059883 CA6711870 |
1579 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA385993715 rs1389544040 |
1584 | L>R | No |
ClinGen gnomAD |
|
|
CA385993631 rs896218309 |
1586 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760653238 CA6711868 |
1588 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs377399742 CA6711869 |
1588 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1269772894 CA385993569 |
1589 | E>K | No |
ClinGen gnomAD |
|
|
CA227973 rs62640574 RCV000086293 |
1591 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385993447 rs1450136279 |
1593 | D>E | No |
ClinGen gnomAD |
|
|
rs1201073418 CA385993460 |
1593 | D>Y | No |
ClinGen gnomAD |
|
|
rs1266899460 CA385993404 |
1595 | S>L | No |
ClinGen gnomAD |
|
|
CA385993338 rs1265943048 |
1597 | N>K | No |
ClinGen gnomAD |
|
|
CA385993353 rs1352598713 |
1597 | N>S | No |
ClinGen gnomAD |
|
|
CA6711866 rs772421973 |
1598 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241157360 rs372850927 |
1599 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369451049 CA241157348 |
1602 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369030385 CA241157320 |
1604 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369030385 CA6711861 |
1604 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434783811 CA385993080 |
1605 | D>G | No |
ClinGen gnomAD |
|
|
CA241156912 rs554863859 |
1605 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1407244468 CA385993076 |
1606 | L>I | No |
ClinGen gnomAD |
|
|
rs767636506 CA6711849 |
1606 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs774822964 CA6711847 |
1610 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6711846 rs766917802 |
1611 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385993038 rs1388521739 |
1611 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773597891 CA6711844 |
1612 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA241156871 rs147714205 |
1614 | V>I | No |
ClinGen 1000Genomes |
|
|
CA6711841 rs775938792 |
1619 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385992984 rs1384001050 |
1620 | F>C | No |
ClinGen gnomAD |
|
|
rs768207527 CA6711840 |
1620 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs746576984 CA6711839 |
1622 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758453972 CA6711837 |
1622 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758453972 CA6711838 |
1622 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868821370 CA241156824 |
1623 | L>M | No |
ClinGen Ensembl |
|
|
CA385992964 rs1244692289 |
1624 | A>P | No |
ClinGen TOPMed |
|
|
CA385992962 rs1477454662 |
1624 | A>V | No |
ClinGen TOPMed |
|
|
CA6711836 rs745621508 |
1625 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1413188289 CA385992947 |
1626 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1413188289 CA385992949 |
1626 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA241156795 rs868148490 |
1627 | E>* | No |
ClinGen gnomAD |
|
|
rs868148490 CA385992942 |
1627 | E>Q | No |
ClinGen gnomAD |
|
|
CA385992936 rs376493409 |
1628 | Q>K | Joubert syndrome 5 (jbts5) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385992932 rs1425465833 |
1628 | Q>L | No |
ClinGen gnomAD |
|
|
rs1415780842 CA385992925 |
1629 | T>I | No |
ClinGen gnomAD |
|
|
CA241156719 rs868584078 |
1631 | A>S | No |
ClinGen Ensembl |
|
|
CA241156687 rs916470951 |
1632 | E>K | No |
ClinGen Ensembl |
|
|
CA385992903 rs1159120623 |
1633 | Q>* | No |
ClinGen TOPMed |
|
|
rs1395825298 CA385992887 |
1635 | D>N | No |
ClinGen TOPMed |
|
|
rs767686072 CA6711833 |
1636 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6711831 rs368886655 |
1637 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385992866 rs1408762946 |
1638 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1222771979 CA385992871 |
1638 | S>T | No |
ClinGen gnomAD |
|
|
CA385992847 rs1323137920 |
1641 | L>F | No |
ClinGen gnomAD |
|
|
CA385992846 rs1292534003 |
1642 | V>I | No |
ClinGen gnomAD |
|
|
CA385992836 rs1226936966 |
1643 | K>R | No |
ClinGen gnomAD |
|
|
rs763470977 CA6711829 |
1644 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773390201 CA6711828 |
1645 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1348715646 CA385992820 |
1646 | K>E | No |
ClinGen gnomAD |
|
|
CA385992821 rs1348715646 |
1646 | K>Q | No |
ClinGen gnomAD |
|
|
rs762153051 CA6711826 |
1647 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs368057362 CA241156642 |
1650 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6711824 rs768242741 |
1651 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1161295348 CA385992758 |
1655 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385992748 rs1199485459 |
1656 | E>G | No |
ClinGen gnomAD |
|
|
rs1237184267 CA385992736 |
1658 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385992719 rs1220316934 |
1660 | L>F | No |
ClinGen gnomAD |
|
|
CA6711821 rs772088416 |
1665 | F>L | No |
ClinGen ExAC |
|
|
CA241156542 rs566018288 |
1666 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA241156539 rs796073911 |
1668 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385992654 rs1287862115 |
1669 | K>I | No |
ClinGen gnomAD |
|
|
rs1264789609 CA385992646 |
1670 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385992644 rs1219855028 |
1671 | Q>* | No |
ClinGen gnomAD |
|
|
CA6711805 rs754199074 |
1672 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775086368 CA6711803 |
1676 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375246057 CA6711804 |
1676 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385991592 rs1174731379 |
1678 | D>G | No |
ClinGen gnomAD |
|
|
rs1410951893 CA385991567 |
1680 | V>L | No |
ClinGen gnomAD |
|
|
CA6711801 rs771700122 |
1681 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759021726 CA6711800 |
1685 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377143954 CA6711799 |
1686 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711798 rs377143954 |
1686 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247729039 CA385991465 |
1688 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6711797 rs777450065 |
1690 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA241154718 rs923136055 |
1691 | K>T | No |
ClinGen Ensembl |
|
|
CA385991428 RCV000734949 rs1565827486 |
1692 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1036280060 CA241154706 |
1693 | L>V | No |
ClinGen Ensembl |
|
|
rs747235813 CA6711795 |
1695 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1382323735 CA385991378 |
1696 | Q>H | No |
ClinGen TOPMed |
|
|
CA6711794 rs780321768 |
1697 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1385857419 CA385991321 |
1701 | S>L | No |
ClinGen Ensembl |
|
|
CA6711791 rs750520372 |
1706 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1313159815 CA385991266 |
1706 | S>P | No |
ClinGen gnomAD |
|
|
CA385991228 rs757738553 |
1709 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711789 rs757738553 |
1709 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241154666 rs940613691 |
1709 | Q>R | No |
ClinGen Ensembl |
|
|
rs754184488 CA6711788 |
1710 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385991193 rs1241267572 |
1712 | K>E | No |
ClinGen TOPMed |
|
|
rs984443388 CA241154645 |
1714 | A>T | No |
ClinGen Ensembl |
|
|
CA385991153 rs1565827241 |
1715 | N>H | No |
ClinGen Ensembl |
|
|
CA6711786 rs771864158 |
1716 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1428633451 CA385991124 |
1717 | R>K | No |
ClinGen gnomAD |
|
|
rs927020750 CA241154641 |
1720 | T>R | No |
ClinGen Ensembl |
|
|
CA6711785 rs375817905 |
1722 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767323225 CA6711784 |
1723 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs759051954 CA6711783 |
1724 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6711782 rs373289214 |
1725 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370119681 CA275233 RCV000523279 |
1728 | E>* | Leber congenital amaurosis 10 (lca10) [Ensembl] | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA241154581 rs1044211267 |
1731 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385990968 rs1246680001 |
1732 | S>N | No |
ClinGen gnomAD |
|
|
rs772924730 CA6711779 |
1732 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367899236 CA385990960 |
1733 | Q>* | No |
ClinGen TOPMed |
|
|
CA385990957 rs1592817900 |
1733 | Q>P | No |
ClinGen Ensembl |
|
|
CA385990930 rs1311947993 |
1735 | A>G | No |
ClinGen gnomAD |
|
|
CA241154567 rs936648881 |
1740 | Q>E | No |
ClinGen TOPMed |
|
|
rs1269513585 CA385990779 |
1743 | A>T | No |
ClinGen TOPMed |
|
|
rs951910051 CA241154183 |
1743 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1391434429 CA385990769 |
1744 | L>F | No |
ClinGen gnomAD |
|
|
rs1032779935 CA241154182 |
1744 | L>P | No |
ClinGen TOPMed |
|
|
rs774427529 CA6711754 |
1746 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385990728 rs1431648249 |
1748 | L>F | No |
ClinGen gnomAD |
|
|
rs749425377 CA6711752 |
1750 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711751 rs778390294 |
1751 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA179858 rs116469117 |
1752 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748471942 CA6711749 |
1752 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711747 rs751167783 |
1755 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1276102857 CA385990654 |
1755 | M>V | No |
ClinGen gnomAD |
|
|
rs1330130948 CA385990629 |
1757 | A>T | No |
ClinGen gnomAD |
|
|
rs1400564198 CA385990573 |
1760 | E>G | No |
ClinGen gnomAD |
|
|
CA385990514 rs1394670172 |
1763 | I>V | No |
ClinGen gnomAD |
|
|
CA385990447 rs1189408217 |
1766 | A>V | No |
ClinGen gnomAD |
|
|
rs1451115875 CA385990444 |
1767 | T>A | No |
ClinGen gnomAD |
|
|
CA6711739 rs763804735 |
1771 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385990353 rs763804735 |
1771 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385990317 rs1442922796 |
1772 | A>D | No |
ClinGen gnomAD |
|
|
rs1280193964 CA385990308 |
1773 | H>Y | No |
ClinGen gnomAD |
|
|
rs527586777 CA241154078 |
1775 | N>S | No |
ClinGen TOPMed |
|
|
CA6711738 rs774410421 |
1777 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367796637 CA385990147 |
1779 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385990119 rs1341571451 |
1781 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6711735 rs773445041 |
1781 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA241154050 rs773445041 |
1781 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA385990118 rs575767207 |
1782 | R>G | Joubert syndrome 5 (jbts5) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1044256302 CA241154043 |
1782 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385990091 rs1374875080 |
1783 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748668047 CA6711734 |
1784 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6711733 rs781756603 |
1785 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6711732 rs768888441 |
1786 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1592808338 CA385989480 |
1789 | T>S | No |
ClinGen Ensembl |
|
|
CA241153485 rs759346674 |
1790 | Q>E | No |
ClinGen Ensembl |
|
|
CA241153481 rs955877363 |
1791 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA241153477 rs200393420 |
1792 | E>Q | No |
ClinGen Ensembl |
|
|
rs752563695 CA6711721 |
1797 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752563695 CA385989233 |
1797 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA385989192 rs1334742060 |
1798 | L>P | No |
ClinGen gnomAD |
|
|
CA385989210 rs1232064286 |
1798 | L>V | No |
ClinGen gnomAD |
|
|
rs978733367 CA241153448 |
1803 | E>D | No |
ClinGen Ensembl |
|
|
rs1180076652 CA385989045 |
1803 | E>G | No |
ClinGen TOPMed |
|
|
rs1366280320 CA385989000 |
1805 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385988978 rs1230345966 |
1806 | K>R | No |
ClinGen gnomAD |
|
|
rs1418800084 CA385988972 |
1807 | T>A | No |
ClinGen TOPMed |
|
|
rs1351470304 CA385988891 |
1810 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1460898199 CA385988852 |
1811 | R>G | No |
ClinGen gnomAD |
|
|
rs762042861 CA6711714 |
1818 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711712 rs769247579 |
1823 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747296290 CA6711711 |
1824 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756668011 CA241153395 |
1825 | E>Q | No |
ClinGen Ensembl |
|
|
rs780490718 CA6711710 |
1826 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA241153390 rs77135645 |
1827 | Q>K | No |
ClinGen Ensembl |
|
|
CA6711709 rs771657596 |
1827 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028011232 CA241153373 |
1832 | A>D | No |
ClinGen Ensembl |
|
|
CA385988394 rs1565822601 |
1832 | A>S | No |
ClinGen Ensembl |
|
|
rs745527978 CA6711708 |
1833 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385988338 rs1211065759 |
1836 | I>T | No |
ClinGen gnomAD |
|
|
rs1315206188 CA385988320 |
1838 | R>G | No |
ClinGen gnomAD |
|
|
rs281865187 RCV000086296 |
1839 | E>missing | No |
ClinVar dbSNP |
|
|
rs1306374879 CA385988306 |
1839 | E>K | No |
ClinGen gnomAD |
|
|
rs200158553 CA233671 |
1841 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756097381 CA6711704 |
1843 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385988183 rs1322480861 |
1847 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1272019874 CA385988187 |
1847 | N>Y | No |
ClinGen TOPMed |
|
|
rs533248960 CA6711703 |
1848 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176131735 CA385988145 |
1850 | L>P | No |
ClinGen gnomAD |
|
|
rs372565248 CA6711701 |
1851 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711699 rs765605695 |
1852 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6711698 rs761953297 |
1852 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711700 rs750660844 |
1852 | R>W | No |
ClinGen ExAC |
|
|
CA6711697 rs534944172 |
1855 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768996835 CA6711696 |
1856 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1485169564 CA385988064 |
1857 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385988051 rs761261059 |
1858 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711694 rs761261059 |
1858 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772425356 CA6711692 |
1860 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385988016 rs1374659944 |
1861 | L>F | No |
ClinGen Ensembl |
|
|
rs777347446 CA6711686 |
1867 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6711684 rs748110593 |
1869 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA385987865 rs1182900230 |
1870 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1262099124 CA385987808 |
1872 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781335780 CA6711683 |
1874 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385987759 rs1255409719 |
1875 | E>G | No |
ClinGen gnomAD |
|
|
CA385987735 rs1344096300 |
1876 | E>* | No |
ClinGen TOPMed |
|
|
CA385987737 rs1344096300 |
1876 | E>Q | No |
ClinGen TOPMed |
|
|
rs1483492602 CA385987724 |
1877 | L>F | No |
ClinGen gnomAD |
|
|
CA385987669 rs1276558834 |
1880 | K>E | No |
ClinGen gnomAD |
|
|
CA6711681 rs751440302 |
1882 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385987543 rs1229896930 |
1885 | E>D | No |
ClinGen gnomAD |
|
|
rs1368307580 CA385987522 |
1886 | N>K | No |
ClinGen TOPMed |
|
|
rs1353100864 CA385987516 |
1887 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1353100864 CA385987519 |
1887 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1356235008 CA385987490 |
1888 | L>V | No |
ClinGen TOPMed |
|
|
rs1296048545 CA385987395 |
1893 | E>K | No |
ClinGen gnomAD |
|
|
CA385987363 rs1460806176 |
1894 | E>D | No |
ClinGen gnomAD |
|
|
rs764240457 CA6711678 |
1895 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1187272544 CA385987255 |
1900 | M>T | No |
ClinGen gnomAD |
|
|
rs1415835597 CA385987262 |
1900 | M>V | No |
ClinGen gnomAD |
|
|
rs878855334 CA385987173 |
1903 | K>E | No |
ClinGen gnomAD |
|
|
rs1331294904 CA385985366 |
1905 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181049225 CA385985350 |
1905 | A>V | No |
ClinGen TOPMed |
|
|
CA385985332 rs1302904579 |
1906 | K>E | No |
ClinGen gnomAD |
|
|
rs769370948 CA6711654 |
1908 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385985235 rs1432184468 |
1910 | I>F | No |
ClinGen Ensembl |
|
|
rs776303588 CA6711651 |
1912 | W>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001268159 rs2035405646 |
1914 | E>* | No |
ClinVar dbSNP |
|
|
rs1161136763 CA385985110 |
1915 | G>V | No |
ClinGen TOPMed |
|
|
CA385985043 rs371737956 |
1918 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711649 rs371737956 |
1918 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75099663 CA241150737 |
1919 | Q>K | No |
ClinGen Ensembl |
|
|
COSM70153 rs1565812995 CA385984991 |
1920 | A>G | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6711647 rs530342996 |
1922 | I>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746949236 CA385984950 |
1922 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711646 COSM944222 rs561598805 |
1926 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA241150716 rs778030031 |
1926 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385984851 rs1466189317 |
1927 | N>D | No |
ClinGen gnomAD |
|
|
CA6711643 rs756308652 |
1930 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387839272 CA385984766 |
1931 | E>G | No |
ClinGen Ensembl |
|
|
CA6711642 rs752713026 |
1931 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6711641 rs755115313 |
1934 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6711640 rs755115313 |
1934 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263492625 CA385984672 |
1936 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM469007 rs1346252811 CA385984646 |
1937 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000086299 rs62638180 |
1938 | T>missing | No |
ClinVar dbSNP |
|
|
rs763345078 CA6711636 |
1942 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763345078 CA385984539 |
1942 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711635 rs750783436 |
1942 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1014034003 CA241150680 |
1944 | N>Y | No |
ClinGen Ensembl |
|
|
CA385984445 rs1402929023 |
1946 | L>W | No |
ClinGen gnomAD |
|
|
CA385984430 rs1175759724 |
1947 | K>E | No |
ClinGen gnomAD |
|
|
rs1592784319 CA385984417 |
1947 | K>M | No |
ClinGen Ensembl |
|
|
rs886049877 CA385984405 |
1948 | D>H | No |
ClinGen TOPMed |
|
|
rs886049877 CA241150677 |
1948 | D>N | No |
ClinGen TOPMed |
|
|
rs761572735 CA6711633 |
1949 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761572735 CA385984377 |
1949 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs368197113 CA241150578 |
1954 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6711622 rs781449183 |
1959 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA208989 RCV000194670 rs780570235 |
1966 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6711619 rs758850576 |
1966 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711618 rs750741976 |
1967 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1344723923 CA385983888 |
1969 | M>I | No |
ClinGen TOPMed |
|
|
CA385983913 rs1271313512 |
1969 | M>V | No |
ClinGen gnomAD |
|
|
CA385983858 rs757752360 |
1972 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6711616 COSM1364701 rs757752360 |
1972 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA385983849 rs1336078273 |
1972 | D>V | No |
ClinGen gnomAD |
|
|
rs753534789 CA6711615 |
1973 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1380800913 CA385983833 |
1973 | Q>R | No |
ClinGen gnomAD |
|
|
CA6711614 rs763876198 |
1976 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1304978820 CA385983741 |
1977 | I>M | No |
ClinGen TOPMed |
|
|
rs774881412 CA6711613 |
1978 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1327918525 CA385983696 |
1979 | A>V | No |
ClinGen gnomAD |
|
|
rs767426153 CA6711612 |
1981 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1014354752 CA241150553 COSM260064 |
1985 | E>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA385983482 rs1460475071 |
1987 | E>G | No |
ClinGen gnomAD |
|
|
CA385983489 rs1162637390 |
1987 | E>K | No |
ClinGen gnomAD |
|
|
rs368095421 CA6711611 |
1989 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373775602 CA385983425 |
1990 | K>R | No |
ClinGen TOPMed |
|
|
rs1064795773 RCV000481528 CA16619598 |
1991 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1178644600 CA385983412 |
1991 | K>R | No |
ClinGen gnomAD |
|
|
rs1031844533 CA241150544 |
1995 | D>Y | No |
ClinGen Ensembl |
|
|
CA385983305 rs1460342479 |
1996 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1231575145 CA385983260 |
1998 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385983182 rs1592782496 |
2000 | I>T | No |
ClinGen Ensembl |
|
|
CA6711609 rs573872325 |
2002 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592782454 CA385983099 |
2003 | M>T | No |
ClinGen Ensembl |
|
|
CA241149789 rs959874918 |
2005 | A>D | No |
ClinGen Ensembl |
|
|
rs1428066297 CA385982462 |
2009 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1428066297 CA385982459 |
2009 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762688893 CA6711588 |
2010 | P>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001090822 rs750073051 CA241149784 |
2011 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs773022969 CA241149781 |
2011 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773022969 CA6711587 |
2011 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1288437556 CA385982344 |
2014 | V>I | No |
ClinGen TOPMed |
|
|
rs1288437556 CA385982346 |
2014 | V>L | No |
ClinGen TOPMed |
|
|
rs1454079582 CA385982314 |
2016 | E>A | No |
ClinGen gnomAD |
|
|
CA385982284 rs1188750184 |
2018 | L>S | No |
ClinGen gnomAD |
|
|
CA385982287 rs1420881901 |
2018 | L>V | No |
ClinGen gnomAD |
|
|
rs1203226421 CA385982269 |
2019 | H>R | No |
ClinGen TOPMed |
|
|
rs1016623078 CA241149778 |
2019 | H>Y | No |
ClinGen TOPMed |
|
|
CA385982258 rs1241586598 |
2020 | L>V | No |
ClinGen gnomAD |
|
|
CA6711584 rs775838235 |
2022 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA385982214 rs1283291449 |
2022 | N>S | No |
ClinGen TOPMed |
|
|
rs764861728 CA241149774 |
2023 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385982201 rs1277969214 |
2023 | R>I | No |
ClinGen gnomAD |
|
|
rs745998591 CA6711582 |
2024 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA241149767 rs894902235 |
2027 | E>V | No |
ClinGen Ensembl |
|
|
rs749626770 CA6711579 |
2028 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs778300453 CA6711578 |
2029 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1251010649 CA385982090 |
2030 | H>D | No |
ClinGen TOPMed |
|
|
RCV000442486 rs1057522651 CA16607423 |
2031 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs780940451 CA6711575 |
2035 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381792519 CA385981976 |
2036 | F>L | No |
ClinGen TOPMed |
|
|
rs1173252668 CA385981961 |
2037 | S>L | No |
ClinGen gnomAD |
|
|
rs192259143 CA241149761 |
2039 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6711573 rs192259143 |
2039 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs566634807 CA241149760 |
2042 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs375498584 CA241149759 |
2043 | K>E | No |
ClinGen gnomAD |
|
|
CA6711571 rs762881903 |
2043 | K>N | No |
ClinGen ExAC |
|
|
rs750159998 CA6711570 |
2044 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565806671 CA385981848 |
2044 | P>L | No |
ClinGen Ensembl |
|
|
CA6711568 rs546731422 |
2045 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576251157 CA241148055 |
2047 | S>L | No |
ClinGen 1000Genomes |
|
|
RCV000430028 rs750355861 CA6711550 |
2049 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA385979968 rs1363602585 |
2053 | D>N | No |
ClinGen gnomAD |
|
|
rs1480157966 CA385979954 |
2054 | H>Y | No |
ClinGen gnomAD |
|
|
rs1215410463 CA385979903 |
2057 | R>T | No |
ClinGen gnomAD |
|
|
rs1332121120 CA385979894 |
2058 | E>K | No |
ClinGen gnomAD |
|
|
CA385979866 rs1239385874 |
2059 | Q>H | No |
ClinGen gnomAD |
|
|
rs1271977782 CA385979869 |
2059 | Q>R | No |
ClinGen gnomAD |
|
|
CA385979846 rs1318320483 |
2061 | L>F | No |
ClinGen gnomAD |
|
|
CA241148051 rs955500845 |
2066 | L>F | No |
ClinGen TOPMed |
|
|
rs761488793 CA6711548 |
2067 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761488793 CA385979749 |
2067 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765197228 CA6711549 |
2067 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA385979716 rs1189095461 |
2070 | S>Y | No |
ClinGen gnomAD |
|
|
CA385979709 rs1290067659 |
2071 | E>Q | No |
ClinGen TOPMed |
|
|
CA385979644 rs1392435736 |
2076 | K>T | No |
ClinGen gnomAD |
|
|
rs1592753818 CA385979634 |
2077 | F>L | No |
ClinGen Ensembl |
|
|
rs753687613 CA6711547 |
2079 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767592034 CA385979584 |
2082 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1254526131 CA385979588 |
2082 | A>T | No |
ClinGen TOPMed |
|
|
rs767592034 CA6711546 |
2082 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6711544 rs774510171 |
2085 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195491242 CA385979554 |
2086 | L>F | No |
ClinGen gnomAD |
|
|
CA6711542 rs763168782 |
2087 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385979539 rs1251883174 |
2089 | L>I | No |
ClinGen gnomAD |
|
|
rs748422474 CA6711539 |
2090 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770358437 CA6711540 |
2090 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA385979518 rs770358437 |
2090 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6711532 rs778771117 |
2095 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385979345 rs1565796681 |
2097 | K>R | No |
ClinGen Ensembl |
|
|
rs757246086 CA6711531 |
2098 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711530 rs753507165 |
2099 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177056507 CA385979317 |
2099 | M>T | No |
ClinGen Ensembl |
|
|
CA385979302 rs1274778299 |
2100 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1228782045 CA385979272 |
2102 | F>C | No |
ClinGen gnomAD |
|
|
CA241147939 rs987710161 |
2104 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6711529 rs763959276 |
2104 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399675593 CA385979239 |
2105 | K>* | No |
ClinGen gnomAD |
|
|
rs1476344451 CA385979162 |
2110 | V>A | No |
ClinGen gnomAD |
|
|
rs763080862 CA6711524 |
2110 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA227982 RCV000086300 rs62640577 |
2111 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385979145 rs1370883149 COSM944216 |
2112 | R>W | ovary endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1259193278 CA385979080 |
2117 | V>D | No |
ClinGen gnomAD |
|
|
CA385979071 rs1208196086 |
2118 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385979069 rs1208196086 |
2118 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385979061 rs1278340553 |
2119 | G>R | No |
ClinGen gnomAD |
|
|
CA6711505 rs758700259 |
2120 | S>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000599471 rs1555197766 CA385978953 |
2122 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA241147786 rs980078665 |
2122 | R>T | No |
ClinGen TOPMed |
|
|
CA6711504 rs750473077 |
2123 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711503 rs140484125 |
2124 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868513172 CA241147784 |
2126 | T>K | No |
ClinGen Ensembl |
|
|
CA385978902 rs1159883105 |
2127 | I>V | No |
ClinGen gnomAD |
|
|
rs777165433 CA385978885 |
2128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6711501 rs777165433 |
2128 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs952641139 CA241147783 |
2128 | P>T | No |
ClinGen Ensembl |
|
|
rs1258832459 CA385978876 |
2129 | E>G | No |
ClinGen TOPMed |
|
|
rs1178627897 CA385978868 |
2130 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1178627897 CA385978867 |
2130 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6711498 rs775860198 |
2133 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6711499 rs775860198 |
2133 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA241147782 rs1020668647 |
2134 | I>V | No |
ClinGen Ensembl |
|
|
CA6711497 rs745529907 |
2135 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1467385636 CA385978781 |
2137 | M>T | No |
ClinGen TOPMed |
|
|
CA241147781 rs543979340 |
2139 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA241147779 rs747203539 |
2145 | Q>* | No |
ClinGen Ensembl |
|
|
CA385978678 rs1308226735 |
2145 | Q>H | No |
ClinGen gnomAD |
|
|
rs1234975160 CA385978669 |
2147 | E>* | No |
ClinGen gnomAD |
|
|
RCV000483169 CA16619596 rs368101871 |
2148 | N>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1323758514 CA385978654 |
2149 | E>K | No |
ClinGen gnomAD |
|
|
CA385978644 rs1435152083 |
2150 | Q>* | No |
ClinGen gnomAD |
|
|
rs759220460 CA241147775 |
2154 | A>E | No |
ClinGen gnomAD |
|
|
rs1319955144 CA385978615 |
2154 | A>T | No |
ClinGen gnomAD |
|
|
rs770448341 CA6711496 |
2155 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6711495 rs748802599 |
2159 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA385978579 rs1397444138 |
2160 | S>N | No |
ClinGen gnomAD |
|
|
rs868018304 CA241147774 |
2161 | E>* | No |
ClinGen Ensembl |
|
|
CA241147773 rs1017249180 |
2163 | M>I | No |
ClinGen TOPMed |
|
|
rs769886105 CA385978544 |
2165 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385978533 rs1242760376 |
2166 | I>S | No |
ClinGen gnomAD |
|
|
CA385978534 rs1242760376 |
2166 | I>T | No |
ClinGen gnomAD |
|
|
CA385978523 rs1218266058 |
2168 | Q>K | No |
ClinGen gnomAD |
|
|
CA6711492 rs747886755 |
2168 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1285535636 CA385978513 |
2169 | E>A | No |
ClinGen gnomAD |
|
|
rs1211364941 CA385978500 |
2171 | E>K | No |
ClinGen gnomAD |
|
|
rs1057519165 RCV000415838 |
2172 | K>missing | No |
ClinVar dbSNP |
|
|
CA385978482 rs1349715692 |
2173 | L>W | No |
ClinGen gnomAD |
|
|
rs1299113315 CA385978475 |
2174 | K>* | No |
ClinGen gnomAD |
|
|
CA6711478 rs767850697 |
2178 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416229666 CA385978391 |
2179 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1416229666 CA385978393 |
2179 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1370195420 CA385978373 |
2180 | L>P | No |
ClinGen TOPMed |
|
|
CA385978379 rs1381853150 |
2180 | L>V | No |
ClinGen gnomAD |
|
|
CA385978367 rs1301427015 |
2181 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs535765861 CA241147674 |
2183 | H>N | No |
ClinGen gnomAD |
|
|
CA6711474 rs762488968 |
2185 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711475 rs770515697 |
2185 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770515697 CA6711476 |
2185 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371858276 CA241147673 |
2186 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA385978299 rs1476297564 |
2187 | Q>K | No |
ClinGen gnomAD |
|
|
CA385978250 rs1480802620 |
2190 | M>I | No |
ClinGen gnomAD |
|
|
rs1034662310 CA241147672 |
2190 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6711472 rs769798212 |
2191 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368428115 CA6711470 |
2191 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368428115 CA6711471 |
2191 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222842886 CA385978223 |
2192 | Y>C | No |
ClinGen gnomAD |
|
|
CA6711469 rs768539400 |
2194 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1592739973 CA385978154 |
2196 | T>I | No |
ClinGen Ensembl |
|
|
rs746828188 CA6711468 |
2197 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033637356 CA241147671 |
2198 | G>C | No |
ClinGen TOPMed |
|
|
CA385978115 rs1319582077 |
2199 | T>A | No |
ClinGen gnomAD |
|
|
rs758329611 RCV000178671 |
2202 | I>missing | No |
ClinVar dbSNP |
|
|
rs1555197132 CA6711466 |
2202 | I>N | No |
ClinGen Ensembl |
|
|
CA385978078 rs1395824988 |
2202 | I>V | No |
ClinGen gnomAD |
|
|
rs1334034039 CA385978012 |
2206 | N>S | No |
ClinGen gnomAD |
|
|
CA6711464 rs753886807 |
2207 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777841957 CA6711463 |
2208 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777841957 CA385977977 |
2208 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399709973 CA385977986 |
2208 | R>W | No |
ClinGen gnomAD |
|
|
CA385977957 rs371833544 |
2210 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164262730 CA385977922 |
2213 | L>R | No |
ClinGen gnomAD |
|
|
CA6711460 rs768065164 |
2214 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385977911 rs1176753106 |
2215 | K>E | No |
ClinGen gnomAD |
|
|
CA385977910 rs1457236601 |
2215 | K>R | No |
ClinGen gnomAD |
|
|
CA6711449 rs746777825 |
2216 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385977802 rs1393652232 |
2223 | L>* | No |
ClinGen TOPMed |
|
|
CA6711447 COSM944214 rs771123241 |
2224 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA385977773 rs1304892718 |
2225 | I>T | No |
ClinGen gnomAD |
|
|
CA385977763 rs1236051586 |
2226 | A>S | No |
ClinGen gnomAD |
|
|
rs1236051586 CA385977767 |
2226 | A>T | No |
ClinGen gnomAD |
|
|
rs748252457 CA6711443 |
2227 | K>N | No |
ClinGen ExAC gnomAD |
|
|
VAR_064401 rs373711746 CA6711442 |
2228 | N>K | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs905274239 CA241147575 |
2228 | N>Y | No |
ClinGen gnomAD |
|
|
CA385977671 rs1296514526 |
2232 | I>M | No |
ClinGen gnomAD |
|
|
rs1375836634 CA385977637 |
2235 | E>* | No |
ClinGen gnomAD |
|
|
CA385977607 rs1464467749 |
2237 | M>V | No |
ClinGen gnomAD |
|
|
rs766640788 CA6711439 |
2245 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385977489 rs1272866129 |
2246 | K>E | No |
ClinGen TOPMed |
|
|
rs1481262821 CA385977481 |
2246 | K>T | No |
ClinGen TOPMed |
|
|
CA241147574 rs148484148 |
2249 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs1478489747 CA385977422 |
2250 | F>L | No |
ClinGen gnomAD |
|
|
rs377561473 CA233666 |
2255 | G>D | No |
ClinGen Ensembl |
|
|
CA385977388 rs1248567520 |
2255 | G>R | No |
ClinGen TOPMed |
|
|
CA6711435 rs761358224 |
2260 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs371397659 CA6711436 |
2260 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475118997 CA385977312 |
2261 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385977315 rs1475118997 |
2261 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001090821 rs2034232539 |
2266 | W>* | No |
ClinVar dbSNP |
|
|
rs1416838092 CA385977223 |
2267 | K>* | No |
ClinGen TOPMed |
|
|
rs1355908667 CA385977190 |
2269 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200090371 CA6711429 |
2269 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377711472 CA6711430 |
2269 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6711427 rs770038302 |
2271 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1326611388 CA385976700 |
2274 | M>V | No |
ClinGen gnomAD |
|
|
CA385976688 rs1179874340 |
2275 | Y>C | No |
ClinGen gnomAD |
|
|
CA241147280 rs973231335 |
2275 | Y>D | No |
ClinGen Ensembl |
|
|
rs941877869 CA241147279 |
2276 | E>K | No |
ClinGen Ensembl |
|
|
CA6711414 rs763494907 |
2277 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760294599 CA6711413 |
2284 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1198115067 CA385976618 |
2285 | D>G | No |
ClinGen gnomAD |
|
|
CA241147278 rs915755840 |
2285 | D>N | No |
ClinGen Ensembl |
|
|
CA241147277 rs991777856 |
2286 | I>T | No |
ClinGen TOPMed |
|
|
CA385976596 rs1212611161 |
2287 | A>T | No |
ClinGen TOPMed |
|
|
CA385976586 rs1452193903 |
2287 | A>V | No |
ClinGen gnomAD |
|
|
rs1226818850 CA481054328 |
2288 | K>M | No |
ClinGen gnomAD |
|
|
rs538590274 CA6711409 |
2292 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385976500 rs1241998041 |
2292 | S>T | No |
ClinGen gnomAD |
|
|
CA385976418 rs1441005709 |
2296 | L>F | No |
ClinGen gnomAD |
|
|
rs1337960015 CA385976371 |
2298 | Q>L | No |
ClinGen gnomAD |
|
|
rs1167542919 CA385976290 |
2302 | E>V | No |
ClinGen TOPMed |
|
|
CA6711406 rs569543965 |
2307 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159666069 CA385976175 |
2308 | Q>K | No |
ClinGen gnomAD |
|
|
CA6711405 rs762012958 |
2311 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA385976009 rs1475884912 |
2315 | E>G | No |
ClinGen gnomAD |
|
|
rs768589942 CA6711403 |
2316 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711402 rs747164585 |
2317 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1219694248 CA385975967 |
2318 | E>Q | No |
ClinGen gnomAD |
|
|
rs774770796 CA6711401 |
2319 | Q>* | No |
ClinGen ExAC |
|
|
CA385975910 rs1565785635 |
2320 | Q>E | No |
ClinGen Ensembl |
|
|
CA385975897 rs780375623 |
2320 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs780375623 CA6711400 |
2320 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA385975763 rs1397736080 |
2322 | K>Q | No |
ClinGen gnomAD |
|
|
CA385975729 rs1261405954 |
2324 | L>F | No |
ClinGen TOPMed |
|
|
CA6711379 rs746362703 |
2330 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6711378 rs779626256 |
2331 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1414041522 CA385975616 |
2332 | E>K | No |
ClinGen gnomAD |
|
|
rs1414041522 CA385975609 |
2332 | E>Q | No |
ClinGen gnomAD |
|
|
rs1474521702 CA385975547 |
2335 | Q>K | No |
ClinGen TOPMed |
|
|
rs1424407266 CA385975540 RCV000610787 |
2335 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA385975524 rs863224794 |
2336 | G>V | No |
ClinGen gnomAD |
|
|
rs1184602103 CA385975514 |
2337 | L>F | No |
ClinGen TOPMed |
|
|
rs1262698711 CA385975485 |
2339 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1323928396 CA385975192 |
2348 | N>D | No |
ClinGen gnomAD |
|
|
CA385975195 rs1323928396 |
2348 | N>H | No |
ClinGen gnomAD |
|
|
rs375548374 CA6711362 |
2350 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA16043896 rs375548374 RCV000415801 |
2350 | Q>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs957163386 CA241147109 |
2353 | K>E | No |
ClinGen Ensembl |
|
|
rs866712549 CA241147108 |
2354 | E>* | No |
ClinGen Ensembl |
|
|
rs886042734 RCV000366819 |
2355 | K>missing | No |
ClinVar dbSNP |
|
|
rs767697315 CA6711361 |
2356 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774974014 CA6711359 |
2357 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488171981 CA385975030 |
2359 | I>T | No |
ClinGen TOPMed |
|
|
CA606447808 rs1294402003 |
2360 | H>* | No |
ClinGen TOPMed gnomAD |
|
|
rs878896889 CA241147106 |
2361 | Q>* | No |
ClinGen Ensembl |
|
|
rs201801456 CA6711357 |
2361 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385975000 rs201801456 |
2361 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241147105 rs766016762 |
2361 | Q>R | No |
ClinGen TOPMed |
|
|
CA385974997 rs1364454411 |
2362 | I>L | No |
ClinGen TOPMed |
|
|
CA241147104 rs997889774 |
2362 | I>T | No |
ClinGen Ensembl |
|
|
CA241147103 rs928776519 |
2363 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770118869 CA6711355 |
2365 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs773642190 CA6711356 |
2365 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA385974941 rs1417787944 |
2366 | K>R | No |
ClinGen Ensembl |
|
|
rs1175026882 CA385974883 |
2370 | G>E | No |
ClinGen Ensembl |
|
|
rs747836241 CA6711354 |
2371 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs747836241 CA385974876 |
2371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs540340404 CA6711353 |
2375 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385974821 rs1287338767 |
2375 | I>V | No |
ClinGen TOPMed |
|
|
rs746547356 CA241147102 |
2376 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs746547356 CA6711351 |
2376 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759638203 CA6711343 |
2377 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6711342 rs774601803 |
2378 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385973888 rs1265771637 |
2379 | D>H | No |
ClinGen gnomAD |
|
|
CA385973868 rs1215139815 |
2380 | Q>R | No |
ClinGen gnomAD |
|
|
rs763506505 CA6711340 |
2383 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1235516395 CA385973817 |
2384 | K>E | No |
ClinGen gnomAD |
|
|
rs770168358 CA6711337 |
2385 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1188495667 CA385973793 |
2385 | I>T | No |
ClinGen TOPMed |
|
|
CA6711339 rs191581359 |
2385 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385973749 rs1592708469 |
2388 | L>R | No |
ClinGen Ensembl |
|
|
rs773633982 CA6711334 |
2391 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA385973705 rs1344978851 |
2392 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385973648 rs1296795588 |
2396 | D>A | No |
ClinGen TOPMed |
|
|
CA385973645 rs1373327829 |
2396 | D>E | No |
ClinGen TOPMed |
|
|
CA385973640 rs1427973228 |
2397 | L>P | No |
ClinGen gnomAD |
|
|
CA385973622 rs1478582091 |
2400 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1478582091 CA385973621 |
2400 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA241146757 rs942003232 |
2400 | Q>L | No |
ClinGen TOPMed |
|
|
CA241146756 rs886443473 |
2402 | L>F | No |
ClinGen TOPMed |
|
|
rs1592705095 CA385973390 |
2405 | E>G | No |
ClinGen Ensembl |
|
|
CA385973399 rs1393659962 |
2405 | E>K | No |
ClinGen TOPMed |
|
|
rs763762899 RCV000485275 |
2407 | K>missing | No |
ClinVar dbSNP |
|
|
RCV000437929 CA16607420 rs1057522466 |
2407 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750921465 CA6711314 |
2408 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241146687 rs951324086 |
2415 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA241146686 rs559496805 |
2416 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA385973141 rs1332938189 |
2416 | F>S | No |
ClinGen TOPMed |
|
|
CA6711311 rs559496805 |
2416 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6711310 rs762199047 |
2417 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA385973111 rs1472845616 |
2418 | P>A | No |
ClinGen gnomAD |
|
|
rs1264656685 CA385972978 |
2423 | E>G | No |
ClinGen TOPMed |
|
|
CA6711307 rs768238747 |
2424 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6711308 rs776986318 |
2424 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385972885 rs1196603979 |
2426 | D>E | No |
ClinGen gnomAD |
|
|
rs775189201 CA6711302 |
2429 | Y>* | No |
ClinGen ExAC |
|
|
CA6711303 rs773642187 |
2429 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771579107 CA6711299 |
2433 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA385972694 rs1327821363 |
2433 | E>K | No |
ClinGen gnomAD |
|
|
rs778857943 CA6711297 |
2436 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1385166850 CA385972572 |
2438 | N>T | No |
ClinGen gnomAD |
|
|
CA6711292 rs749021822 |
2440 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1374014119 CA385972484 |
2442 | E>* | No |
ClinGen TOPMed |
|
|
CA385972444 rs1181415522 |
2444 | K>E | No |
ClinGen gnomAD |
|
|
rs751804549 CA6711287 |
2445 | V>G | No |
ClinGen ExAC |
|
|
CA6711290 rs756042946 |
2445 | V>I | No |
ClinGen ExAC |
|
|
COSM1364696 CA241146683 rs960671788 |
2446 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV000086302 rs281865189 |
2448 | L>missing | No |
ClinVar dbSNP |
|
|
rs1227987107 CA385972387 |
2448 | L>P | No |
ClinGen TOPMed |
|
|
rs1307904857 CA385972366 |
2450 | E>Q | No |
ClinGen TOPMed |
|
|
rs1358454222 CA385972320 |
2453 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1432849005 CA385972308 |
2454 | V>G | No |
ClinGen Ensembl |
|
|
CA6711282 rs750500237 |
2454 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762238709 CA6711280 |
2458 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1259022973 CA385972228 |
2459 | P>R | No |
ClinGen TOPMed |
|
|
CA241146682 rs192540254 |
2461 | A>P | No |
ClinGen 1000Genomes |
|
|
CA6711278 rs764437559 |
2463 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385972150 rs764437559 |
2463 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761068453 CA6711276 |
2465 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs371277324 CA6711274 |
2468 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176028137 CA385972036 |
2469 | E>K | No |
ClinGen TOPMed |
|
|
CA385971987 COSM1513407 rs1406377321 |
2471 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000179154 CA246397 rs794727762 |
2472 | S>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA385971902 rs1197518555 |
2475 | N>H | No |
ClinGen gnomAD |
|
|
CA6711270 rs759043556 |
2476 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs564319952 CA6711268 |
2478 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564319952 CA385971847 |
2478 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
6 associated diseases with O15078
[MIM: 610188]: Joubert syndrome 5 (JBTS5)
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:22425360, ECO:0000269|PubMed:26166481, ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610189]: Senior-Loken syndrome 6 (SLSN6)
A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:20683928}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611755]: Leber congenital amaurosis 10 (LCA10)
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:16909394}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611134]: Meckel syndrome 4 (MKS4)
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:17564974, ECO:0000269|PubMed:31411728}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615991]: Bardet-Biedl syndrome 14 (BBS14)
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269|PubMed:16682970, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:22425360, ECO:0000269|PubMed:26166481, ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:20683928}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:16909394}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:17564974, ECO:0000269|PubMed:31411728}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O15078
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Centrosomal protein of 290kDa, coiled-coil region | 1289 - 1416 | IPR032321 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR18879 | CENTROSOMAL PROTEIN OF 290 KDA |
| PANTHER Subfamily | PTHR18879:SF20 | CENTROSOMAL PROTEIN OF 290 KDA |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| specific granule lumen | The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| ciliary basal body-plasma membrane docking | The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. |
| ciliary transition zone assembly | The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| eye photoreceptor cell development | Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve. |
| hindbrain development | The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium). |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| otic vesicle formation | The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear. |
| positive regulation of intracellular protein transport | Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| pronephros development | The process whose specific outcome is the progression of the pronephros over time, from its formation to the mature structure. In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensable for larval life. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of establishment of protein localization | Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPNINWKEI | MKVDPDDLPR | QEELADNLLI | SLSKVEVNEL | KSEKQENVIH | LFRITQSLMK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MKAQEVELAL | EEVEKAGEEQ | AKFENQLKTK | VMKLENELEM | AQQSAGGRDT | RFLRNEICQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKQLEQKDRE | LEDMEKELEK | EKKVNEQLAL | RNEEAENENS | KLRRENKRLK | KKNEQLCQDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDYQKQIDSQ | KETLLSRRGE | DSDYRSQLSK | KNYELIQYLD | EIQTLTEANE | KIEVQNQEMR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KNLEESVQEM | EKMTDEYNRM | KAIVHQTDNV | IDQLKKENDH | YQLQVQELTD | LLKSKNEEDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PIMVAVNAKV | EEWKLILSSK | DDEIIEYQQM | LHNLREKLKN | AQLDADKSNV | MALQQGIQER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSQIKMLTEQ | VEQYTKEMEK | NTCIIEDLKN | ELQRNKGAST | LSQQTHMKIQ | STLDILKEKT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KEAERTAELA | EADAREKDKE | LVEALKRLKD | YESGVYGLED | AVVEIKNCKN | QIKIRDREIE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILTKEINKLE | LKISDFLDEN | EALRERVGLE | PKTMIDLTEF | RNSKHLKQQQ | YRAENQILLK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EIESLEEERL | DLKKKIRQMA | QERGKRSATS | GLTTEDLNLT | ENISQGDRIS | ERKLDLLSLK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NMSEAQSKNE | FLSRELIEKE | RDLERSRTVI | AKFQNKLKEL | VEENKQLEEG | MKEILQAIKE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MQKDPDVKGG | ETSLIIPSLE | RLVNAIESKN | AEGIFDASLH | LKAQVDQLTG | RNEELRQELR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ESRKEAINYS | QQLAKANLKI | DHLEKETSLL | RQSEGSNVVF | KGIDLPDGIA | PSSASIINSQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NEYLIHLLQE | LENKEKKLKN | LEDSLEDYNR | KFAVIRHQQS | LLYKEYLSEK | ETWKTESKTI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KEEKRKLEDQ | VQQDAIKVKE | YNNLLNALQM | DSDEMKKILA | ENSRKITVLQ | VNEKSLIRQY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TTLVELERQL | RKENEKQKNE | LLSMEAEVCE | KIGCLQRFKE | MAIFKIAALQ | KVVDNSVSLS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ELELANKQYN | ELTAKYRDIL | QKDNMLVQRT | SNLEHLECEN | ISLKEQVESI | NKELEITKEK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LHTIEQAWEQ | ETKLGNESSM | DKAKKSITNS | DIVSISKKIT | MLEMKELNER | QRAEHCQKMY |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EHLRTSLKQM | EERNFELETK | FAELTKINLD | AQKVEQMLRD | ELADSVSKAV | SDADRQRILE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LEKNEMELKV | EVSKLREISD | IARRQVEILN | AQQQSRDKEV | ESLRMQLLDY | QAQSDEKSLI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| AKLHQHNVSL | QLSEATALGK | LESITSKLQK | MEAYNLRLEQ | KLDEKEQALY | YARLEGRNRA |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| KHLRQTIQSL | RRQFSGALPL | AQQEKFSKTM | IQLQNDKLKI | MQEMKNSQQE | HRNMENKTLE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| MELKLKGLEE | LISTLKDTKG | AQKVINWHMK | IEELRLQELK | LNRELVKDKE | EIKYLNNIIS |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| EYERTISSLE | EEIVQQNKFH | EERQMAWDQR | EVDLERQLDI | FDRQQNEILN | AAQKFEEATG |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| SIPDPSLPLP | NQLEIALRKI | KENIRIILET | RATCKSLEEK | LKEKESALRL | AEQNILSRDK |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| VINELRLRLP | ATAEREKLIA | ELGRKEMEPK | SHHTLKIAHQ | TIANMQARLN | QKEEVLKKYQ |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| RLLEKAREEQ | REIVKKHEED | LHILHHRLEL | QADSSLNKFK | QTAWDLMKQS | PTPVPTNKHF |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| IRLAEMEQTV | AEQDDSLSSL | LVKLKKVSQD | LERQREITEL | KVKEFENIKL | QLQENHEDEV |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| KKVKAEVEDL | KYLLDQSQKE | SQCLKSELQA | QKEANSRAPT | TTMRNLVERL | KSQLALKEKQ |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| QKALSRALLE | LRAEMTAAAE | ERIISATSQK | EAHLNVQQIV | DRHTRELKTQ | VEDLNENLLK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LKEALKTSKN | RENSLTDNLN | DLNNELQKKQ | KAYNKILREK | EEIDQENDEL | KRQIKRLTSG |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| LQGKPLTDNK | QSLIEELQRK | VKKLENQLEG | KVEEVDLKPM | KEKNAKEELI | RWEEGKKWQA |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| KIEGIRNKLK | EKEGEVFTLT | KQLNTLKDLF | AKADKEKLTL | QRKLKTTGMT | VDQVLGIRAL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| ESEKELEELK | KRNLDLENDI | LYMRAHQALP | RDSVVEDLHL | QNRYLQEKLH | ALEKQFSKDT |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| YSKPSISGIE | SDDHCQREQE | LQKENLKLSS | ENIELKFQLE | QANKDLPRLK | NQVRDLKEMC |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| EFLKKEKAEV | QRKLGHVRGS | GRSGKTIPEL | EKTIGLMKKV | VEKVQRENEQ | LKKASGILTS |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| EKMANIEQEN | EKLKAELEKL | KAHLGHQLSM | HYESKTKGTE | KIIAENERLR | KELKKETDAA |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| EKLRIAKNNL | EILNEKMTVQ | LEETGKRLQF | AESRGPQLEG | ADSKSWKSIV | VTRMYETKLK |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| ELETDIAKKN | QSITDLKQLV | KEATEREQKV | NKYNEDLEQQ | IKILKHVPEG | AETEQGLKRE |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| LQVLRLANHQ | LDKEKAELIH | QIEANKDQSG | AESTIPDADQ | LKEKIKDLET | QLKMSDLEKQ |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| HLKEEIKKLK | KELENFDPSF | FEEIEDLKYN | YKEEVKKNIL | LEEKVKKLSE | QLGVELTSPV |
| 2470 | |||||
| AASEEFEDEE | ESPVNFPIY |