Q2M1P5
EV
Gene name |
KIF7 (UNQ340/PRO539) |
Protein name |
Kinesin-like protein KIF7 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:374654 |
EC number |
|
Protein Class |
CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED (PTHR47969) |
Descriptions
KIF7 is a kinesin-4 family member that plays a critical role in Hedgehog signaling in vertebrates. It is regulated by an autoinhibition mechanism via its inhibitory coiled coil segment. Truncation of the coiled coil segment relieves the autoinhibition of microtubule binding. Loss of autoinhibition, as seen in certain mutations, leads to strong microtubule binding and can be pathogenic for human diseases such as Joubert syndrome and acrocallosal syndrome.
Autoinhibitory domains (AIDs)
Target domain |
1-558 (N-terminal motor domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Mutagenesis experiment, Deletion assay |
Accessory elements
No accessory elements
2013 variants for Q2M1P5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1964147870 RCV002046531 |
5 | A>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002029076 rs1454209591 |
15 | P>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001328840 rs949983017 RCV001576025 RCV001325072 |
17 | R>Q | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000117425 RCV001704025 rs141865394 CA020412 RCV000554903 |
17 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001252538 rs1420854824 RCV002570517 |
18 | V>I | Acrocallosal syndrome Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001852164 rs794727316 RCV000355275 CA020438 |
21 | R>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001878167 rs935846747 |
21 | R>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1235928535 RCV000714582 RCV000714581 |
23 | R>* | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2142036702 RCV002019121 |
33 | G>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001249726 RCV002568699 rs769021701 RCV001568216 |
42 | P>A | KIF7-related ciliopathy spectrum disorder Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1964145444 RCV001950599 |
44 | L>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002023788 rs1035083771 |
48 | T>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs746429585 RCV001969497 |
51 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs555261308 RCV001964758 |
51 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002045082 rs1203068941 |
52 | D>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001610413 RCV000278498 RCV000117413 VAR_061287 rs8179065 CA020220 RCV001730552 RCV001730551 |
52 | D>N | Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs569323391 RCV000537774 CA274584468 |
53 | R>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs760396015 RCV001920185 |
58 | H>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369404071 RCV001118490 |
59 | V>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369404071 RCV002032848 RCV001767270 |
59 | V>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001903850 rs1285971751 |
61 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001878406 rs1459778502 |
63 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002008468 rs775159552 |
65 | A>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001874152 rs2142036455 |
66 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003147447 rs761934745 RCV000336973 CA7728674 |
70 | V>M | Acrocallosal syndrome Hydrolethalus syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001335629 rs1201439891 |
72 | Q>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000023886 rs797044465 RCV000414144 CA129523 |
73 | A>missing | Joubert syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
COSM1375358 RCV001118489 rs552362795 |
73 | A>V | Acrocallosal syndrome large_intestine [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001858035 RCV003278872 rs1388988537 RCV000523915 CA393779976 |
79 | L>F | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002013873 rs770614646 RCV003339891 COSM1608815 |
83 | F>L | Acrocallosal syndrome liver Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs770614646 RCV001861105 RCV001770934 |
83 | F>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775919883 RCV001930133 |
84 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147947221 RCV001118488 |
87 | N>D | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001891779 rs147947221 |
87 | N>H | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771463286 RCV001946770 |
95 | Q>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003442945 rs754667399 RCV001893695 |
108 | S>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7728645 RCV000442397 rs761226001 RCV001861637 |
119 | I>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10636665 rs886051544 RCV000321796 |
126 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002018842 rs1410526224 |
132 | D>N | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10642694 rs886051543 RCV000267079 |
135 | D>E | Acrocallosal syndrome [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs1555425036 RCV000604111 CA658798425 |
142 | H>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2142032123 RCV002044013 |
142 | H>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs551697037 RCV002555221 RCV001884722 |
142 | H>R | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs758361736 CA7728634 RCV000415003 RCV000856784 |
145 | Y>S | Acrocallosal syndrome Cerebellar ataxia Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001885060 RCV003298986 rs1050207869 RCV001773131 |
150 | K>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM3706810 RCV000023882 CA020407 rs387907044 |
154 | R>* | Variant assessed as Somatic; HIGH impact. Acrocallosal syndrome liver Acrocallosal syndrome (acls) [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000547008 rs180758272 RCV001249725 RCV000733768 VAR_077692 CA7728633 |
154 | R>Q | KIF7-related ciliopathy spectrum disorder Acrocallosal syndrome Acrocallosal syndrome (acls) ACLS; uncertain significance; atypical phenotype [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002010610 rs2142032037 |
156 | L>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002029103 rs1365593121 |
156 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002540374 RCV001765590 COSM966375 rs1322167851 |
158 | E>K | Acrocallosal syndrome endometrium [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001115337 rs1432505645 |
160 | G>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001932675 rs766793289 |
169 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115336 rs559797970 |
173 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001929332 rs188342701 |
174 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000023884 CA259937 rs797044463 |
197 | E>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1179864977 RCV001910572 |
203 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs886051542 RCV000325727 CA10642692 |
207 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10647509 rs886051541 RCV000270710 |
208 | T>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs967375546 RCV001892233 |
213 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1333950635 RCV001968630 |
214 | S>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA10647508 RCV000365273 rs886051540 RCV003343777 |
215 | S>G | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001930244 rs1373212168 |
216 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000023885 CA259938 rs797044464 |
230 | R>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001121913 rs1227236239 |
233 | S>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001965118 rs898910099 |
234 | R>H | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs529571444 RCV001863588 |
237 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs529571444 RCV002501756 RCV001510832 RCV001569789 |
237 | R>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001349034 rs1188936390 |
239 | A>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs886051539 RCV000310560 CA10647501 |
240 | P>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001328841 RCV000481380 CA16620032 rs1004531343 |
241 | G>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596078831 RCV001884491 |
244 | L>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001823576 rs1212811357 |
245 | V>I | Short-limb skeletal dysplasia with severe combined immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1964079117 RCV001341070 |
247 | K>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000414683 RCV002523935 rs1057518271 CA16042913 |
262 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1169060633 RCV001335632 |
263 | G>C | Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000023887 CA129524 rs797044466 RCV000023888 |
271 | E>missing | Joubert syndrome 12 Joubert syndrome 12/15, digenic [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1964076095 RCV001328842 |
283 | G>D | Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs531693490 RCV001927065 |
290 | G>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002000631 rs2142030215 |
292 | P>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002047130 rs776621314 |
296 | G>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002023508 rs1411628239 |
305 | K>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001555954 rs954983148 RCV001859380 |
307 | T>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001954296 rs2142029652 |
309 | I>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001874385 rs1383459229 |
316 | G>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA7728596 RCV000368715 rs756368261 |
318 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs913347544 RCV001966501 |
321 | V>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001758517 rs1048051000 RCV002544092 |
323 | I>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel rs2142029500 RCV002039723 |
324 | A>V | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV002484584 TCGA novel rs1964066861 RCV001921789 |
326 | V>I | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001269955 rs1964065704 RCV002493461 |
341 | N>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035461 rs372182012 RCV000594690 CA274582593 RCV003160026 |
342 | Y>F | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV002021457 rs1964064450 |
355 | V>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001887112 rs1964064450 |
355 | V>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001945338 rs1449579286 |
357 | W>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001219628 rs1964064208 |
358 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001563105 RCV002556563 rs764965490 RCV001119933 |
364 | P>S | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2142029100 RCV001932826 |
367 | E>DA | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001730511 RCV000082811 RCV001730512 RCV001668212 RCV000394862 rs8037349 CA020177 |
368 | T>A | Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001892417 rs2142029069 |
369 | A>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001991918 rs1439252969 |
370 | S>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001864236 rs1331968966 |
372 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001973114 rs1233260819 |
374 | G>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001352544 rs557460012 |
375 | P>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2142028875 RCV001884700 |
383 | R>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002044373 rs1596078329 |
384 | I>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10642689 RCV000335286 rs886051537 |
386 | H>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1208805083 RCV002020887 |
386 | H>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000764005 CA7728582 RCV000298981 RCV002521914 RCV000725358 rs553968087 |
393 | G>C | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001335625 RCV003322882 rs1298790380 RCV001865831 |
394 | P>S | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001774139 rs1964059838 RCV001861119 |
395 | A>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000403608 CA10604160 rs535621809 RCV000273740 |
397 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001877711 rs2142028675 |
399 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1419911490 RCV001335626 |
403 | M>T | Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1391614221 RCV001885186 |
405 | L>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001083297 CA020189 RCV000117411 RCV002528215 RCV001199843 rs587780375 |
407 | A>D | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1253153154 RCV001921837 |
417 | D>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs550404869 RCV001852225 RCV000179052 CA020198 |
424 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs1297297468 RCV001936585 |
429 | E>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs946190172 RCV001896504 |
429 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001971549 rs1368352498 |
430 | P>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs932033181 RCV000702350 |
433 | P>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001322183 rs1567067173 RCV000722741 |
433 | P>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs976073468 RCV001969987 |
435 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001118397 rs1964055538 |
440 | V>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001118396 rs747307729 |
442 | D>Y | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1964054912 RCV002035772 |
447 | V>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000379358 CA10642686 rs886051532 |
453 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1175288371 RCV001900508 |
456 | S>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1485836507 RCV001864328 |
459 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002029242 rs1185420675 |
461 | D>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1455184212 RCV001920176 |
462 | S>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1485867610 RCV001906580 |
463 | G>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs570856269 CA7728580 RCV000322469 |
464 | I>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1345505035 RCV001929230 |
469 | V>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248330 rs922192277 RCV002272430 |
471 | D>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002478595 rs527804875 RCV001089258 RCV000513978 CA020213 RCV000248504 |
477 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000796586 rs1040813926 |
478 | G>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs900459039 RCV001935875 |
484 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1305987882 RCV001962056 COSM4758685 |
486 | A>V | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2142026620 RCV001881112 |
489 | L>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001984930 RCV003289263 rs1313323843 |
494 | N>T | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001358917 RCV001252534 rs377280724 |
505 | D>E | Acrocallosal syndrome Intellectual disability [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764052631 RCV002029044 |
508 | A>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001252537 rs1964038681 |
513 | A>P | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001941524 rs1250146203 |
516 | Q>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar dbSNP gnomAD |
|
rs774902437 RCV001877946 |
522 | D>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769192339 RCV001916735 |
523 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115242 rs1436845524 |
526 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs142282670 RCV001950660 |
528 | Q>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377625808 RCV003247106 RCV001891074 |
529 | E>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001899627 rs1364028483 |
531 | M>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001914654 rs752524061 |
537 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001907493 rs2142025143 |
540 | L>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs750567055 RCV001941518 |
545 | W>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002534702 rs369168569 RCV000802313 RCV003159164 |
548 | P>L | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA658798423 rs1555424684 RCV000604949 |
549 | R>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001981747 rs866153959 |
549 | R>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142025004 RCV001885685 |
553 | G>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs151155363 RCV002010826 |
555 | P>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001326779 rs746600720 |
558 | S>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1325092086 RCV001897163 |
561 | P>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001919364 rs772716663 |
568 | L>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1964023213 RCV001328836 |
569 | G>E | Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16042910 RCV002523910 RCV000413190 rs1057517751 |
570 | G>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs569225496 RCV001998637 |
570 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs140185951 RCV002042460 |
571 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs531366745 RCV001891012 |
579 | V>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002492166 RCV002569273 RCV001966284 rs769897141 |
581 | P>T | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772703638 RCV001969984 |
588 | E>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003247174 RCV001928737 rs746549341 |
588 | E>K | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001935637 rs761922179 |
603 | E>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115241 rs993149094 |
611 | E>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1031698510 RCV001304403 RCV002539550 |
614 | R>K | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs776869340 COSM2015648 COSM2015647 RCV001897009 |
620 | S>L | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001572696 RCV000878127 RCV002479975 CA7728425 rs149814240 RCV000253761 |
629 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780304130 RCV002075791 |
630 | E>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750610579 RCV001947242 |
631 | E>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254624184 RCV001115240 |
632 | P>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
VAR_066450 RCV000422196 rs115857753 RCV000318904 CA020233 RCV000117414 |
632 | P>L | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1254624184 RCV001335627 |
632 | P>S | Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM966365 RCV001344110 RCV002547002 COSM966366 rs150543610 |
635 | R>W | Acrocallosal syndrome liver Variant assessed as Somatic; MODERATE impact. central_nervous_system endometrium Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs553948489 RCV000811542 |
640 | R>C | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_066451 RCV001584666 rs137905815 RCV002476888 RCV001882703 |
641 | R>G | Acrocallosal syndrome Acrocallosal syndrome (acls) BBS; the patient also carries homozygous mutation R-390 in BBS1; may affect splicing; hypomorphic variant in vitro [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002043443 rs757997374 |
648 | S>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776343307 CA020236 RCV001852255 RCV000180716 |
653 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001999439 rs542994181 |
654 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs367617135 RCV001324728 |
657 | S>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002044200 rs781476519 |
670 | E>D | Acrocallosal syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001299016 rs1963993437 |
671 | L>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001947513 rs778447926 |
673 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002542369 rs138736028 RCV001806901 |
687 | R>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138736028 RCV001899076 RCV002275279 RCV003264233 |
687 | R>G | Acrocallosal syndrome Inborn genetic diseases Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200123657 COSM966363 RCV000700457 |
687 | R>Q | Acrocallosal syndrome large_intestine endometrium [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1963989086 RCV001987100 |
688 | V>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001870302 rs2142021759 |
690 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs536188566 COSM702173 RCV001240831 COSM702172 RCV002563983 |
691 | R>C | lung Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [Cosmic, ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003303601 RCV001991624 RCV003402029 rs377712806 |
691 | R>H | Acrocallosal syndrome KIF7-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001729530 RCV001573675 RCV000353617 rs565633539 CA7728338 |
692 | Q>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs550326630 RCV002520978 CA7728337 RCV000333886 |
693 | V>F | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001984705 rs571373108 |
695 | P>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001987044 rs779543411 |
695 | P>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149078926 RCV000764004 VAR_066452 RCV001335628 RCV001215158 CA7728328 COSM3402002 RCV000323940 |
702 | R>Q | Acrocallosal syndrome central_nervous_system Acrocallosal syndrome (acls) Multiple epiphyseal dysplasia, Al-Gazali type ACLS; may affect splicing; hypomorphic mutation in vitro [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs781032745 RCV001201691 |
702 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001904600 rs373361316 RCV002547986 |
706 | A>S | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001119828 rs368873919 |
711 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1255667027 RCV000638553 CA393763713 |
711 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs762264287 RCV002009432 |
713 | L>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV001364439 RCV002547821 rs774683334 |
715 | I>V | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001587252 RCV001224507 rs372882880 |
718 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138021610 RCV001887709 |
718 | R>H | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138021610 RCV001572688 RCV001866040 |
718 | R>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000610998 rs1555424505 CA393763646 |
722 | E>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758416079 RCV001896243 |
722 | E>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150227461 RCV000981640 RCV001573893 |
725 | G>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001943440 rs543188623 |
726 | E>K | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001981533 rs543188623 |
726 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs142420701 COSM3722294 RCV001034884 |
729 | R>H | ovary upper_aerodigestive_tract Acrocallosal syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001262206 rs1963940594 |
734 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001922015 rs768766154 |
739 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001119827 rs943930875 |
739 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000340146 RCV000801626 CA7728267 rs147679100 |
740 | Q>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001967943 rs751746707 |
741 | H>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM5122076 rs1440715352 RCV001945049 |
742 | S>N | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
rs145324453 CA7728265 RCV001326667 RCV000490132 |
743 | Q>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001119826 rs758730416 |
744 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141867330 RCV001920827 |
746 | R>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs151317163 CA7728260 RCV001084827 RCV000725501 |
746 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141867330 RCV001328837 RCV002516619 CA020259 RCV000724188 |
746 | R>W | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002013063 rs760121687 |
747 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001922547 rs1163621253 |
749 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001899774 rs749173316 |
756 | R>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002006882 rs758677022 |
761 | E>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001175213 rs1963937785 |
763 | Q>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1439862748 RCV001119825 |
766 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001988040 rs201091656 |
767 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM4536529 COSM4536528 rs148779858 RCV001947321 |
770 | E>K | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1596074353 RCV001961203 |
773 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs762864604 RCV003133220 RCV000365138 CA7728237 |
774 | L>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1249809748 RCV001963978 |
776 | D>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs116823950 RCV000551731 CA020270 RCV000174186 RCV001577666 |
779 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886051530 CA10647476 RCV000342702 |
781 | S>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001912751 rs780592854 |
782 | R>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003314702 RCV001917129 rs749948143 |
782 | R>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003348598 COSM3690678 rs749948143 RCV001912976 |
782 | R>Q | Acrocallosal syndrome large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA274576907 RCV000764003 RCV000522725 rs759424882 |
785 | E>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002031098 rs762787424 |
787 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7728219 RCV000285504 rs117123311 |
788 | R>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2142016920 RCV001994066 |
789 | R>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs759322369 RCV001936207 |
790 | V>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001859416 rs748254377 RCV001658802 |
791 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139150855 RCV001924762 |
792 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001872867 rs756506659 |
795 | S>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201612675 RCV001942374 |
798 | Q>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771424250 RCV001975304 |
802 | E>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747460072 RCV002608039 RCV002009932 |
804 | K>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002642052 RCV001996382 rs771441248 |
807 | T>A | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527732 rs757175418 CA393760056 |
807 | T>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001855115 CA7728167 rs757175418 RCV000764002 RCV000280850 |
807 | T>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000731081 rs758378987 RCV000390787 RCV002520977 CA7728159 |
809 | R>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000625891 rs367734857 RCV000764001 RCV001868160 RCV003278953 CA7728162 |
809 | R>W | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. Hydrolethalus syndrome 2 Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001252533 rs1963741468 |
813 | L>P | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000594372 RCV001854042 rs374111371 CA7728149 |
819 | K>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs374638470 RCV001118297 COSM556337 RCV003317433 |
820 | R>Q | lung Acrocallosal syndrome Acrocallosal syndrome (acls) [Cosmic, ClinVar, Ensembl] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1403464053 RCV001978853 |
823 | E>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs148044329 RCV001980868 |
826 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139711238 RCV001953113 |
826 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000431045 RCV001861543 RCV000764000 rs143915145 CA7728134 VAR_077693 |
828 | V>M | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. Acrocallosal syndrome (acls) ACLS; uncertain significance; atypical phenotype [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001961015 rs2142002481 |
829 | Q>HF | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs768110060 RCV001367858 |
829 | Q>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002040941 rs371841682 |
832 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745638889 RCV001888760 |
832 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001328108 RCV001086870 CA7728123 COSM3690601 VAR_066454 RCV000514812 RCV000239249 rs138354681 |
834 | Q>R | Acrocallosal syndrome Nephronophthisis large_intestine Acrocallosal syndrome (acls) found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7; uncertain significance [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750616880 RCV001946050 |
841 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147040400 COSM1212504 RCV001933416 COSM1212505 |
841 | R>W | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374366786 RCV001940611 |
843 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs760348444 RCV001891507 |
844 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs151034440 RCV002004536 |
846 | T>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001088881 RCV000732836 rs141514601 |
850 | R>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001961866 rs141514601 |
850 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200210231 RCV001946560 |
850 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001892491 rs201341169 RCV002552860 |
851 | R>C | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750613716 RCV001929829 |
851 | R>H | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001963832 rs2142002317 |
852 | L>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001962875 RCV002286864 rs762662896 |
854 | A>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751970641 RCV001872807 |
856 | M>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764572782 RCV001116846 |
857 | S>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758999185 RCV001974263 |
862 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001116845 COSM3690600 CA7728091 RCV000343628 COSM3690599 rs202057334 |
862 | R>H | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000779177 rs1328669185 |
867 | E>* | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs771049459 RCV001919251 |
870 | H>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002001453 rs144359873 |
871 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376919553 RCV001879719 |
876 | I>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002040330 rs1963725146 |
879 | I>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002657662 RCV003327551 rs372660203 RCV002498012 RCV002017488 |
881 | T>M | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002543944 rs774073055 RCV001757916 |
885 | A>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7728053 RCV000638551 rs774073055 |
885 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA020289 rs143250090 RCV002516636 RCV000724190 RCV001328838 |
891 | R>T | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146368430 RCV001913280 |
892 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143866575 RCV001240617 |
892 | R>H | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001901186 rs149548398 |
897 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3969338 COSM3969337 RCV002225945 RCV001883217 rs149548398 |
897 | G>S | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139174072 RCV001922234 |
899 | V>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001974082 rs2142001211 |
901 | S>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142001189 RCV003170493 RCV001992322 |
902 | L>P | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001947147 rs1293379353 |
902 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1963714856 RCV001950232 |
908 | I>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs764430327 RCV000692222 |
912 | K>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769890385 RCV001857860 CA7727959 RCV001252536 RCV000514052 |
913 | K>missing | Acrocallosal syndrome Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs746321431 RCV001121709 |
916 | D>E | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs746577567 RCV001297763 |
920 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs147407072 RCV001121708 |
926 | R>W | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003167115 rs757264957 RCV001918666 RCV003332360 |
927 | R>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002020753 RCV003227059 rs766347192 |
927 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764218371 RCV002027197 |
928 | A>V | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771525697 RCV001906394 |
939 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001580526 CA7727940 RCV002529882 RCV002492985 rs142786336 RCV000638554 |
939 | R>W | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375079629 RCV001903194 |
943 | L>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
COSM702174 rs141463861 RCV000364818 CA7727926 RCV001121707 |
954 | T>M | lung Acrocallosal syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003167381 rs1002040263 RCV001955067 |
954 | T>S | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
VAR_035363 RCV000082813 RCV001689633 RCV001730513 RCV001730514 RCV000316792 CA020297 rs3803530 |
958 | S>I | Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766652877 RCV001886909 |
960 | R>C | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002481621 RCV001662495 RCV001857116 rs567836651 CA7727915 RCV000500907 |
963 | S>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003327364 rs752248403 RCV000023880 RCV000023881 CA129522 RCV001849281 |
966 | A>missing | Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001322459 rs79839906 RCV002545108 |
972 | V>L | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202229910 RCV000201660 CA277751 |
973 | R>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202229910 CA7727882 RCV000370098 RCV001859676 RCV002487255 |
973 | R>G | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762483775 RCV002018683 |
973 | R>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762483775 RCV001937208 |
973 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2141998345 RCV002046368 |
975 | S>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10603996 rs769540024 RCV000291777 RCV001342207 RCV003151007 |
977 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759367222 RCV001919559 |
977 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs558313041 RCV002013791 |
979 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000190601 CA276009 rs797045093 |
982 | E>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001531209 RCV002568190 rs746893972 |
986 | S>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001881211 rs2141998277 |
986 | S>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002532575 CA7727872 VAR_077694 RCV003323627 RCV001307590 rs146626238 RCV000591679 |
987 | E>K | Acrocallosal syndrome Inborn genetic diseases Acrocallosal syndrome (acls) ACLS; uncertain significance; atypical phenotype [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1467513774 RCV001898709 |
991 | Q>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001196810 rs746107537 |
993 | R>Q | Hydrolethalus syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000513744 VAR_066455 rs138410949 CA020312 RCV001252541 RCV000201541 |
994 | Q>R | Acrocallosal syndrome Intellectual disability Acrocallosal syndrome (acls) BBS; the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1; hypomorphic variant in vitro [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245976 rs146841447 RCV001364050 |
997 | A>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001910215 rs1375916466 |
999 | S>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000023883 RCV003329235 CA020318 rs387907045 |
1001 | Q>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001884444 rs143309556 |
1004 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs776364872 RCV001949086 |
1004 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001730518 RCV001682792 RCV000332349 CA020329 VAR_035364 RCV001730517 RCV000082815 rs12900805 |
1005 | G>R | Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001962644 rs769931246 |
1008 | D>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252539 rs1567058573 |
1013 | E>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795850 RCV002537011 RCV003151811 rs144493884 |
1021 | R>C | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001990886 rs547282977 |
1029 | R>S | Acrocallosal syndrome [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs779514045 RCV001299607 |
1037 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779273024 RCV001915687 |
1041 | T>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001062427 rs1184688512 |
1043 | F>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1963648189 RCV001884590 |
1057 | E>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000254711 rs886039282 VAR_071185 CA10588060 |
1060 | N>S | Multiple epiphyseal dysplasia, Al-Gazali type AGBK [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000598442 RCV001867984 rs77474187 CA7727803 |
1066 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814383 rs763937653 |
1066 | R>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001911275 rs767837351 |
1068 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001591424 VAR_066456 rs147191956 CA7727798 RCV000638556 |
1068 | R>W | Acrocallosal syndrome Acrocallosal syndrome (acls) BBS; the patient is a compound heterozygote for two frameshift mutations in BBS9; hypomorphic variant in vitro [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768917109 RCV001882634 RCV001553503 |
1071 | R>Q | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000175111 CA020352 rs570460369 RCV001852138 |
1071 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs149378390 RCV001343129 |
1075 | S>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745423935 RCV002017914 |
1076 | L>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001996359 rs1423214607 |
1082 | M>I | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1236798408 RCV001884256 |
1083 | N>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002027887 rs746652178 |
1083 | N>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001974535 rs752092734 |
1092 | S>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA393755872 RCV000522960 RCV001381328 rs1555423165 |
1094 | S>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001234987 rs1224341278 |
1107 | V>A | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs189960711 RCV001196809 COSM4878598 COSM4878599 |
1109 | T>M | Variant assessed as Somatic; MODERATE impact. Hydrolethalus syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778139192 RCV000201533 CA277688 |
1111 | R>* | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001954805 COSM1637495 rs752985477 |
1111 | R>Q | Acrocallosal syndrome bone [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142032413 CA020358 RCV000677323 RCV000363675 RCV002490798 RCV002262708 RCV001290030 RCV000117422 VAR_066457 |
1115 | H>Q | Acrocallosal syndrome Hydrolethalus syndrome 2 Scoliosis, isolated, susceptibility to, 1 Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001935936 rs202195179 |
1122 | S>L | Acrocallosal syndrome Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs202195179 RCV002002241 VAR_077695 |
1122 | S>W | Acrocallosal syndrome Acrocallosal syndrome (acls) ACLS; uncertain significance; atypical phenotype [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001860191 rs755353975 RCV000592865 CA7727712 RCV002532519 |
1143 | E>G | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002486648 rs756521084 RCV002025640 |
1144 | R>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756521084 RCV001934831 |
1144 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001919631 rs571807299 |
1144 | R>W | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001339483 rs766975299 |
1146 | R>C | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000369635 rs886044617 RCV003243049 CA10606982 |
1151 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769648374 RCV000802513 |
1152 | Q>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1963621732 RCV001312872 |
1154 | T>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2141994017 RCV001968894 |
1157 | Q>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001872315 rs1963621332 |
1158 | K>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001870721 rs748294001 |
1158 | K>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs567337105 CA7727691 RCV000514464 RCV001857862 |
1161 | E>K | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs567337105 RCV001915372 |
1161 | E>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002043402 rs1198876598 |
1170 | Q>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs76346806 RCV001886772 |
1176 | G>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001950418 rs766236000 |
1181 | D>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs1479026507 RCV002008286 |
1185 | Q>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001926580 rs775574580 |
1187 | E>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001882813 RCV001754381 rs759709247 |
1189 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765317455 RCV002569166 RCV001954136 |
1189 | R>W | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1408166081 RCV001943852 |
1190 | I>M | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001924014 rs2141992697 |
1192 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs200782729 RCV002011373 RCV002548154 |
1195 | K>N | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003130572 rs748917501 RCV001886422 |
1199 | R>C | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002027832 rs752086211 RCV002548986 |
1209 | Q>missing | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252535 rs751522626 |
1210 | K>E | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001732047 RCV002556472 rs143316368 RCV001116734 |
1213 | G>S | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002024237 rs748648030 |
1216 | A>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1410298399 RCV001997003 |
1233 | R>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs750635928 RCV001903806 |
1233 | R>T | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371960047 RCV001868639 RCV001773190 |
1238 | N>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1963594414 RCV001986074 |
1244 | L>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001995707 rs2141991796 |
1246 | P>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs546772749 RCV001933310 |
1252 | S>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775576101 RCV001921874 RCV002552327 |
1252 | S>missing | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002571172 rs749230267 RCV001593532 |
1254 | L>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002040443 rs769689199 |
1256 | E>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001872193 rs1963591052 |
1256 | E>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211914 rs777426943 |
1260 | R>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147195322 RCV001915199 |
1261 | T>N | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166892 rs561205514 RCV001323705 |
1262 | R>L | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002537282 RCV000808133 rs142598777 RCV003147555 RCV001553033 |
1262 | R>W | Acrocallosal syndrome Hydrolethalus syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002032596 rs144301755 RCV001553353 |
1266 | R>Q | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001907065 rs2141991400 |
1271 | A>D | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs754341930 RCV001313065 |
1271 | A>T | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM2015581 rs765907353 COSM2015582 RCV002021703 |
1272 | P>L | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001116733 COSM5971593 rs749221779 COSM5971592 |
1279 | R>C | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001927940 rs775526351 |
1280 | S>L | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001335631 RCV000732838 rs143877028 RCV001087881 |
1281 | S>I | Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002029556 rs750002097 |
1289 | S>F | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001593279 rs751191936 RCV001116732 |
1291 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1044478234 RCV001302708 |
1292 | E>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000804348 rs146300227 RCV001766670 |
1298 | A>V | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138993311 CA020385 RCV000175496 RCV002516679 RCV000302149 |
1305 | R>Q | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA020390 RCV000529413 COSM4128553 RCV000175498 rs150248985 RCV001200207 |
1315 | P>L | Acrocallosal syndrome thyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375983330 RCV002017856 |
1321 | L>S | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200891085 RCV002115910 |
1322 | S>P | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000638552 CA7727464 rs537735484 |
1323 | K>R | Acrocallosal syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs73477443 COSM4851278 RCV001864599 COSM4851277 |
1325 | R>Q | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001121608 RCV001585991 rs777140020 RCV003259106 |
1325 | R>W | Acrocallosal syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141225908 RCV001794681 RCV002034644 |
1326 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001947444 rs372979006 RCV003303248 |
1326 | R>W | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001944130 rs202214398 |
1329 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001852031 rs780942335 RCV000023889 RCV000514978 CA129525 |
1329 | R>missing | Acrocallosal syndrome Familial aplasia of the vermis [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_066458 | 1329 | R>del | JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67 [UniProt] | Yes | UniProt |
|
rs377066237 RCV001968131 |
1330 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001121607 rs1363015734 |
1331 | A>G | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA020398 RCV000175494 rs145726393 RCV001083648 RCV001252540 |
1333 | P>Q | Acrocallosal syndrome Intellectual disability Acrocallosal syndrome (acls) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001967042 rs2141990790 |
1334 | G>missing | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002042700 rs771532005 |
1335 | M>K | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001919891 rs747455856 RCV003167021 |
1336 | I>T | Acrocallosal syndrome Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747829509 RCV001927576 |
1339 | R>Q | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757946358 RCV002038810 |
1339 | R>W | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2141990725 RCV001945015 |
1341 | N>H | Acrocallosal syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| rs938045073 | 2 | G>R | No |
TOPMed gnomAD |
|
| rs2142036931 | 2 | G>V | No | Ensembl | |
| rs1325798081 | 6 | Q>* | No | gnomAD | |
| rs1270213542 | 6 | Q>H | No | TOPMed | |
| rs2142036911 | 6 | Q>R | No | Ensembl | |
| rs758144105 | 9 | P>L | No |
ExAC gnomAD |
|
| rs543942301 | 10 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs543942301 | 10 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1203959700 | 10 | G>W | No |
TOPMed gnomAD |
|
| rs1596081007 | 11 | A>S | No |
TOPMed gnomAD |
|
| rs1596081007 | 11 | A>T | No |
TOPMed gnomAD |
|
| rs1271849962 | 12 | E>G | No |
TOPMed gnomAD |
|
| rs765192038 | 13 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1337006433 | 14 | A>T | No | gnomAD | |
| rs1403402865 | 16 | V>G | No | gnomAD | |
| rs1964147275 | 16 | V>L | No | gnomAD | |
| rs1247032577 | 19 | A>V | No | gnomAD | |
| rs794727316 | 21 | R>G | Acrocallosal syndrome (acls) [Ensembl] | No |
TOPMed gnomAD |
| rs935846747 | 21 | R>Q | No |
TOPMed gnomAD |
|
| rs1462866186 | 22 | V>L | No | gnomAD | |
| rs1209584417 | 23 | R>Q | No |
TOPMed gnomAD |
|
| rs1275039697 | 25 | L>V | No | gnomAD | |
| rs1198797617 | 26 | L>R | No | gnomAD | |
| rs1964146361 | 27 | P>L | No | gnomAD | |
| rs1429190056 | 27 | P>S | No |
TOPMed gnomAD |
|
| rs767557131 | 29 | E>D | No |
ExAC gnomAD |
|
| rs368482949 | 32 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1018636281 | 33 | G>R | No |
TOPMed gnomAD |
|
| TCGA novel | 35 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1280702414 | 36 | S>R | No |
TOPMed gnomAD |
|
| rs1355724901 | 37 | C>* | No | gnomAD | |
| rs1442319245 | 37 | C>F | No | gnomAD | |
| rs1222167310 | 39 | Q>R | No |
TOPMed gnomAD |
|
| rs1367383569 | 40 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1964145558 | 42 | P>L | No | gnomAD | |
| rs769021701 | 42 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1964145398 | 45 | G>R | No |
TOPMed gnomAD |
|
| rs567170163 | 46 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs959891471 | 46 | R>H | No |
TOPMed gnomAD |
|
| rs959891471 | 46 | R>P | No |
TOPMed gnomAD |
|
| rs567170163 | 46 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1964144794 | 47 | V>G | No | Ensembl | |
| rs770323687 | 47 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1596080921 | 48 | T>P | No | Ensembl | |
| rs555261308 | 51 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567069719 RCV000722879 |
52 | D>K | No |
ClinVar Ensembl dbSNP |
|
| rs8179065 | 52 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs569323391 RCV001768525 |
53 | R>G | Acrocallosal syndrome (acls) [Ensembl] | No |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
| rs746547718 | 53 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs746547718 | 53 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV000176010 CA020225 rs794727315 |
54 | H>Y | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
| rs1319640068 | 57 | F>Y | No |
TOPMed gnomAD |
|
| rs1311602417 | 58 | H>Y | No | gnomAD | |
| rs1596080882 | 60 | V>G | No | Ensembl | |
| rs1370557352 | 62 | A>T | No | gnomAD | |
| rs1348446857 | 63 | E>G | No | gnomAD | |
| rs1026564700 | 64 | D>G | No | TOPMed | |
| rs775159552 | 65 | A>V | No | gnomAD | |
| rs532675934 | 66 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1363434080 | 66 | G>V | No | TOPMed | |
| rs766352879 | 67 | Q>* | No | ExAC | |
| rs1180177940 | 68 | E>G | No | gnomAD | |
| rs2142036425 | 69 | A>V | No | Ensembl | |
| rs1487401425 | 72 | Q>R | No | gnomAD | |
| rs552362795 | 73 | A>D | No |
1000Genomes gnomAD |
|
| rs1964142704 | 73 | A>P | No | TOPMed | |
| rs1964142704 | 73 | A>T | No | TOPMed | |
| rs1301806942 | 74 | C>Y | No |
TOPMed gnomAD |
|
| rs1227247256 | 75 | V>I | No |
TOPMed gnomAD |
|
| rs1345528858 | 76 | Q>E | No | gnomAD | |
| rs1964142396 | 77 | P>T | No | gnomAD | |
| rs1964142358 | 78 | L>F | No | Ensembl | |
| rs1236627651 | 79 | L>P | No |
TOPMed gnomAD |
|
| rs766618553 | 80 | E>K | No | Ensembl | |
| rs909513356 | 82 | F>L | No | Ensembl | |
| rs1289476412 | 83 | F>C | No | TOPMed | |
|
rs1293359223 COSM1608815 |
83 | F>L | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1391195209 | 84 | E>D | No |
TOPMed gnomAD |
|
| rs1157143166 | 85 | G>D | No | gnomAD | |
| rs1567069563 | 88 | A>V | No | Ensembl | |
| rs891743732 | 90 | V>I | No |
TOPMed gnomAD |
|
| rs1178290037 | 93 | Y>F | No | gnomAD | |
| rs1266575095 | 94 | G>V | No | gnomAD | |
| rs2142036226 | 95 | Q>H | No | Ensembl | |
| rs771463286 | 95 | Q>K | Acrocallosal syndrome (acls) [Ensembl] | No |
ExAC gnomAD |
| rs1245826414 | 96 | T>M | No |
TOPMed gnomAD |
|
| rs1465593089 | 99 | G>E | No | gnomAD | |
| rs1264501750 | 104 | M>L | No |
TOPMed gnomAD |
|
| rs1230407147 | 104 | M>R | No |
TOPMed gnomAD |
|
| rs1230407147 | 104 | M>T | No |
TOPMed gnomAD |
|
| rs1311016113 | 105 | G>A | No |
TOPMed gnomAD |
|
| rs1311016113 | 105 | G>E | No |
TOPMed gnomAD |
|
| rs1311016113 | 105 | G>V | No |
TOPMed gnomAD |
|
| rs747819025 | 106 | E>G | No |
ExAC gnomAD |
|
| rs747819025 | 106 | E>V | No |
ExAC gnomAD |
|
| rs778629024 | 107 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1318822623 | 108 | S>T | No |
TOPMed gnomAD |
|
| rs529927988 | 109 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1250271017 | 110 | A>V | No | gnomAD | |
| rs1182032856 | 111 | S>F | No | gnomAD | |
| rs894497447 | 111 | S>T | No | TOPMed | |
| rs1964097179 | 112 | L>F | No | Ensembl | |
| rs1355982031 | 114 | E>Q | No |
TOPMed gnomAD |
|
| rs1964096855 | 120 | V>F | No | Ensembl | |
| rs1277744807 | 121 | P>L | No |
TOPMed gnomAD |
|
| rs1277744807 | 121 | P>R | No |
TOPMed gnomAD |
|
| rs1964096594 | 124 | M>I | No | TOPMed | |
| rs771500087 | 125 | A>V | No |
ExAC gnomAD |
|
| rs1964096341 | 127 | A>P | No | TOPMed | |
| rs778381085 | 129 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs778381085 | 129 | K>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1383044852 | 130 | L>V | No |
TOPMed gnomAD |
|
|
rs537169269 RCV001768757 |
131 | I>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2142032182 | 132 | D>E | No | Ensembl | |
|
rs922869195 RCV001733781 |
134 | N>S | No |
ClinVar TOPMed dbSNP |
|
| rs1596079338 | 135 | D>Y | No | Ensembl | |
| rs1360574783 | 137 | L>F | No |
TOPMed gnomAD |
|
| rs2142032150 | 138 | D>N | No | 1000Genomes | |
| rs1596079332 | 139 | C>R | No | Ensembl | |
| rs1478669456 | 139 | C>S | No |
TOPMed gnomAD |
|
| rs756117745 | 140 | L>M | No |
ExAC gnomAD |
|
| rs1596079322 | 141 | V>G | No | Ensembl | |
| rs551697037 | 142 | H>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1423914482 | 144 | S>F | No |
TOPMed gnomAD |
|
| rs1596079289 | 147 | E>D | No |
TOPMed gnomAD |
|
| rs1267640231 | 147 | E>K | No | gnomAD | |
| rs1368643826 | 148 | V>L | No |
TOPMed gnomAD |
|
| rs1184119876 | 150 | K>T | No | gnomAD | |
| rs2142032065 | 152 | E>K | No | Ensembl | |
| rs387907044 | 154 | R>G | Acrocallosal syndrome (acls) [Ensembl] | No |
TOPMed gnomAD |
| rs180758272 | 154 | R>P | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ExAC TOPMed gnomAD |
| rs1596079275 | 155 | D>A | No | Ensembl | |
| rs1596079264 | 158 | E>D | No | Ensembl | |
| rs1596079263 | 159 | V>G | No | Ensembl | |
| rs1964094331 | 160 | G>S | No |
TOPMed gnomAD |
|
| rs1221234527 | 161 | T>A | No | TOPMed | |
| rs1057435113 | 161 | T>I | No | TOPMed | |
| rs2142032006 | 162 | A>S | No | Ensembl | |
| rs755280435 | 164 | R>C | No |
ExAC TOPMed gnomAD |
|
|
RCV000595070 CA274583094 rs755280435 |
164 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1336887612 | 164 | R>H | No |
TOPMed gnomAD |
|
| rs754191899 | 169 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs766793289 | 169 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs754191899 | 169 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1964093851 | 170 | E>K | No | TOPMed | |
| rs1003474136 | 171 | D>G | No |
TOPMed gnomAD |
|
| rs2142031961 | 171 | D>Y | No | Ensembl | |
| rs768030553 | 173 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs559797970 | 173 | R>S | No |
1000Genomes TOPMed gnomAD |
|
| rs1964093457 | 174 | G>E | No | TOPMed | |
| rs1964085243 | 179 | C>Y | No | TOPMed | |
|
TCGA novel rs1964085146 |
180 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1484780856 | 180 | G>R | No |
TOPMed gnomAD |
|
| rs1484780856 | 180 | G>W | No |
TOPMed gnomAD |
|
| rs1409898901 | 181 | V>L | No |
TOPMed gnomAD |
|
| rs1409898901 | 181 | V>M | No |
TOPMed gnomAD |
|
| rs2142031178 | 182 | K>N | No | Ensembl | |
| rs2142031162 | 183 | E>D | No | Ensembl | |
| rs1964085010 | 183 | E>V | No | Ensembl | |
| rs1310326259 | 185 | D>H | No |
TOPMed gnomAD |
|
| rs1310326259 | 185 | D>N | No |
TOPMed gnomAD |
|
| rs1354267066 | 186 | V>M | No | gnomAD | |
| rs1407346812 | 188 | G>S | No | gnomAD | |
| rs1191652907 | 189 | L>M | No |
1000Genomes TOPMed |
|
| rs1964084513 | 193 | L>V | No | TOPMed | |
| rs1567068052 | 194 | S>N | No | Ensembl | |
| rs1964084413 | 194 | S>R | No | TOPMed | |
| rs1964084322 | 195 | L>F | No | TOPMed | |
| rs1181427119 | 197 | E>G | No | gnomAD | |
| rs977482531 | 200 | N>S | No |
TOPMed gnomAD |
|
| rs967769378 | 201 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1964083998 | 201 | A>V | No | TOPMed | |
| rs1253908330 | 202 | A>E | No |
TOPMed gnomAD |
|
| rs1253908330 | 202 | A>V | No |
TOPMed gnomAD |
|
|
COSM240414 rs1964083889 |
203 | R>W | prostate [Cosmic] | No |
cosmic curated TOPMed |
| rs745680789 | 205 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs745680789 | 205 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1223479072 | 206 | G>E | No | gnomAD | |
| rs886051541 | 208 | T>K | No |
TOPMed gnomAD |
|
| rs1228483857 | 209 | H>N | No |
TOPMed gnomAD |
|
| rs1596078933 | 209 | H>P | No | Ensembl | |
| rs1394181326 | 210 | L>P | No |
1000Genomes TOPMed gnomAD |
|
| rs1596078930 | 212 | H>P | No | Ensembl | |
| rs1964083156 | 212 | H>Y | No | TOPMed | |
| rs967375546 | 213 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1333950635 | 214 | S>P | No |
TOPMed gnomAD |
|
| rs757264040 | 214 | S>Y | No |
ExAC gnomAD |
|
| rs189804625 | 215 | S>R | No |
1000Genomes ExAC |
|
| rs1964082758 | 215 | S>T | No | Ensembl | |
| rs1020469860 | 216 | R>L | No |
TOPMed gnomAD |
|
| rs1305884128 | 218 | H>R | No |
TOPMed gnomAD |
|
| rs1439052275 | 219 | T>A | No |
TOPMed gnomAD |
|
| rs1439052275 | 219 | T>S | No |
TOPMed gnomAD |
|
| rs1964082110 | 221 | F>C | No | Ensembl | |
| TCGA novel | 221 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1164414335 | 222 | T>N | No | gnomAD | |
| rs2142030853 | 224 | T>A | No | Ensembl | |
| rs1414227324 | 224 | T>I | No | gnomAD | |
| rs1156995768 | 225 | L>V | No |
TOPMed gnomAD |
|
| rs955010124 | 226 | E>K | No | gnomAD | |
| rs1964081682 | 227 | Q>* | No | TOPMed | |
| rs996790116 | 227 | Q>H | No | TOPMed | |
| rs1425831510 | 228 | R>P | No |
TOPMed gnomAD |
|
| rs1425831510 | 228 | R>Q | No |
TOPMed gnomAD |
|
| rs1028164219 | 228 | R>W | No |
TOPMed gnomAD |
|
| rs1245789833 | 229 | G>R | No | gnomAD | |
| rs1465947060 | 230 | R>C | No | gnomAD | |
| rs997082435 | 230 | R>H | No |
TOPMed gnomAD |
|
| rs1465947060 | 230 | R>S | No | gnomAD | |
| rs1402650077 | 231 | A>P | No | Ensembl | |
| rs1460145124 | 232 | P>L | No | TOPMed | |
| rs1964081031 | 232 | P>S | No | TOPMed | |
| rs1964080869 | 233 | S>R | No | TOPMed | |
| rs1227236239 | 233 | S>T | No |
1000Genomes TOPMed gnomAD |
|
| rs1302507562 | 234 | R>C | No | gnomAD | |
| rs1325517056 | 235 | L>P | No | gnomAD | |
| rs1391078591 | 236 | P>S | No |
TOPMed gnomAD |
|
| rs1391078591 | 236 | P>T | No |
TOPMed gnomAD |
|
| rs1178081116 | 238 | P>H | No | gnomAD | |
| rs1378146452 | 238 | P>S | No | gnomAD | |
| rs1394292136 | 239 | A>S | No |
1000Genomes TOPMed gnomAD |
|
| rs1394292136 | 239 | A>T | No |
1000Genomes TOPMed gnomAD |
|
|
RCV001782345 rs1567067864 |
241 | G>missing | No |
ClinVar dbSNP |
|
| rs1207566281 | 241 | G>A | No |
TOPMed gnomAD |
|
| rs1207566281 | 241 | G>D | No |
TOPMed gnomAD |
|
| rs1483258643 | 242 | Q>R | No | gnomAD | |
| rs1212811357 | 245 | V>L | No | gnomAD | |
| rs1310928668 | 246 | S>Y | No | gnomAD | |
|
RCV000592932 CA393775077 rs1249751684 |
247 | K>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1046713732 | 249 | H>Q | No |
1000Genomes gnomAD |
|
| rs1964078948 | 249 | H>Y | No | gnomAD | |
| rs1964078838 | 250 | F>L | No | Ensembl | |
| rs1257010266 | 251 | V>M | No | TOPMed | |
| rs1964078636 | 253 | L>P | No | Ensembl | |
| rs1964078492 | 254 | A>T | No | Ensembl | |
| rs1367625488 | 254 | A>V | No | gnomAD | |
| rs1381743319 | 257 | E>K | No | gnomAD | |
| rs1964078176 | 258 | R>G | No | Ensembl | |
| rs762429906 | 258 | R>K | No |
ExAC gnomAD |
|
| rs762429906 | 258 | R>M | No |
ExAC gnomAD |
|
| rs762429906 | 258 | R>T | No |
ExAC gnomAD |
|
| rs1464522973 | 259 | V>M | No | gnomAD | |
| rs1420636784 | 260 | L>F | No |
TOPMed gnomAD |
|
| rs936542223 | 264 | S>I | No | gnomAD | |
| rs936542223 | 264 | S>N | No | gnomAD | |
| rs1191970042 | 265 | T>N | No | gnomAD | |
| rs939728328 | 266 | G>S | No |
TOPMed gnomAD |
|
| rs886795645 | 266 | G>V | No | TOPMed | |
| rs1964077171 | 267 | E>D | No | Ensembl | |
| rs1485011167 | 268 | R>L | No |
TOPMed gnomAD |
|
| rs1485011167 | 268 | R>Q | No |
TOPMed gnomAD |
|
| rs1964077123 | 268 | R>W | No | TOPMed | |
| rs1964076985 | 269 | L>F | No | Ensembl | |
| rs1280161973 | 270 | K>E | No | gnomAD | |
| rs978833977 | 271 | E>D | No |
TOPMed gnomAD |
|
| rs866904103 | 272 | S>N | No | Ensembl | |
| rs1279913376 | 276 | N>D | No | TOPMed | |
| rs1344695594 | 276 | N>K | No | gnomAD | |
| rs1272790387 | 278 | S>T | No |
TOPMed gnomAD |
|
| rs762568380 | 279 | L>F | No |
ExAC gnomAD |
|
|
RCV000722752 rs1567067749 |
280 | L>P | No |
ClinVar Ensembl dbSNP |
|
| rs1362384117 | 280 | L>V | No | TOPMed | |
| rs1315005502 | 281 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 282 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs967323163 | 283 | G>S | No | Ensembl | |
| rs55765051 | 284 | N>K | No | TOPMed | |
| rs913243558 | 285 | V>I | No |
TOPMed gnomAD |
|
| rs2142030264 | 287 | S>C | No | Ensembl | |
| rs1308503261 | 288 | A>T | No | gnomAD | |
| rs1964075761 | 289 | L>P | No |
TOPMed gnomAD |
|
| rs1964075761 | 289 | L>R | No |
TOPMed gnomAD |
|
| rs769602777 | 289 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1458141610 | 291 | D>E | No |
TOPMed gnomAD |
|
| rs1484840047 | 291 | D>G | No |
TOPMed gnomAD |
|
| rs1167075751 | 291 | D>H | No |
TOPMed gnomAD |
|
| rs1167075751 | 291 | D>N | No |
TOPMed gnomAD |
|
| TCGA novel | 293 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596078709 | 293 | Q>K | No | Ensembl | |
| TCGA novel | 294 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749675548 | 294 | R>L | No |
TOPMed gnomAD |
|
| rs1964075349 | 294 | R>S | No |
TOPMed gnomAD |
|
| rs1257458364 | 295 | R>L | No | gnomAD | |
| rs1257458364 | 295 | R>Q | No | gnomAD | |
| rs1474561355 | 295 | R>W | No | gnomAD | |
| rs776621314 | 296 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1964074960 | 297 | S>N | No | TOPMed | |
| rs1198671838 | 298 | H>D | No | gnomAD | |
| rs1195572623 | 298 | H>R | No | gnomAD | |
| rs1427809417 | 300 | P>A | No | TOPMed | |
| rs1964074667 | 300 | P>R | No | gnomAD | |
| rs1427809417 | 300 | P>S | No | TOPMed | |
| rs1267389546 | 302 | R>C | No | gnomAD | |
| rs1267389546 | 302 | R>G | No | gnomAD | |
| TCGA novel | 302 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1242723111 | 302 | R>L | No | gnomAD | |
| rs1964074345 | 303 | D>E | No | TOPMed | |
| rs1393932372 | 303 | D>N | No | TOPMed | |
| rs747038002 | 304 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs747038002 | 304 | S>F | No |
ExAC TOPMed gnomAD |
|
|
rs988090940 RCV001531210 |
306 | I>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs564429116 | 306 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1287072764 | 307 | T>S | No |
TOPMed gnomAD |
|
| rs184038436 | 308 | R>L | No |
TOPMed gnomAD |
|
| rs184038436 | 308 | R>Q | No |
TOPMed gnomAD |
|
|
rs1392444900 COSM1375356 |
308 | R>W | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs965570507 | 309 | I>M | No |
TOPMed gnomAD |
|
| rs1019422988 | 311 | K>N | No |
TOPMed gnomAD |
|
| rs1964068292 | 312 | D>N | No | Ensembl | |
| rs1964068231 | 313 | S>L | No | gnomAD | |
| rs1320675092 | 314 | L>Q | No |
TOPMed gnomAD |
|
| rs1964067984 | 315 | G>D | No | Ensembl | |
| rs1954001720 | 315 | G>R | No | gnomAD | |
| rs1383459229 | 316 | G>R | No |
1000Genomes TOPMed gnomAD |
|
| rs1379776774 | 318 | A>V | No | gnomAD | |
| rs1192120835 | 319 | K>N | No |
TOPMed gnomAD |
|
| rs1964067629 | 319 | K>Q | No |
TOPMed gnomAD |
|
| rs1964067525 | 320 | T>M | No | Ensembl | |
| rs1454043852 | 321 | V>L | No | gnomAD | |
| rs1210677295 | 322 | M>L | No |
TOPMed gnomAD |
|
| rs1210677295 | 322 | M>V | No |
TOPMed gnomAD |
|
|
rs1048051000 COSM966373 |
323 | I>F | endometrium [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1445303271 | 324 | A>P | No |
TOPMed gnomAD |
|
| rs1445303271 | 324 | A>S | No |
TOPMed gnomAD |
|
| rs1445303271 | 324 | A>T | No |
TOPMed gnomAD |
|
| rs1964066941 | 325 | C>F | No | TOPMed | |
| rs1964066941 | 325 | C>S | No | TOPMed | |
| rs1201005975 | 327 | S>N | No | gnomAD | |
|
rs1567067501 RCV000722761 |
328 | P>H | No |
ClinVar Ensembl dbSNP |
|
| rs1347007869 | 328 | P>S | No | gnomAD | |
| rs1301049354 | 329 | S>P | No | gnomAD | |
|
rs1315039116 COSM1212503 |
332 | D>N | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1964066114 | 335 | E>Q | No | Ensembl | |
| TCGA novel | 335 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142029403 | 336 | T>P | No | Ensembl | |
| rs1964066029 | 336 | T>S | No | Ensembl | |
| rs995129517 | 337 | L>F | No | TOPMed | |
|
rs587780373 CA020168 RCV000117409 |
338 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1479773810 | 339 | T>P | No | gnomAD | |
| rs781662732 | 340 | L>P | No |
ExAC gnomAD |
|
| rs1172236161 | 341 | N>K | No | gnomAD | |
| rs757699508 | 341 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1270119343 | 342 | Y>* | No | TOPMed | |
| rs894763666 | 342 | Y>H | No | TOPMed | |
| rs536645226 | 343 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs536645226 | 343 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1964065075 | 345 | R>C | No | TOPMed | |
| rs764533193 | 345 | R>H | No |
ExAC gnomAD |
|
| rs1964065075 | 345 | R>S | No | TOPMed | |
| rs1964064932 | 346 | A>G | No |
TOPMed gnomAD |
|
| rs1444126569 | 347 | Q>* | No | gnomAD | |
| rs2142029275 | 348 | N>D | No | 1000Genomes | |
| rs1964064808 | 349 | I>V | No | TOPMed | |
|
TCGA novel rs1202374747 |
350 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1202374747 | 350 | R>L | No | TOPMed | |
| rs1278014219 | 351 | N>K | No | gnomAD | |
| rs1209902228 | 352 | R>C | No |
TOPMed gnomAD |
|
| rs1342551459 | 352 | R>H | No |
TOPMed gnomAD |
|
| rs928814459 | 353 | A>P | No |
TOPMed gnomAD |
|
| rs928814459 | 353 | A>S | No |
TOPMed gnomAD |
|
| rs928814459 | 353 | A>T | No |
TOPMed gnomAD |
|
| rs2142029225 | 353 | A>V | No | Ensembl | |
| rs1209636794 | 355 | V>I | No |
TOPMed gnomAD |
|
| rs1255141600 | 356 | N>H | No | TOPMed | |
| rs1449579286 | 357 | W>R | No |
TOPMed gnomAD |
|
| rs1357923425 | 359 | P>T | No | gnomAD | |
| rs1311533687 | 360 | E>K | No | gnomAD | |
| rs752296699 | 362 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1400779200 | 363 | R>Q | No |
TOPMed gnomAD |
|
| rs794727742 | 365 | P>A | No |
TOPMed gnomAD |
|
| rs1163910200 | 365 | P>L | No | gnomAD | |
|
CA020173 RCV000179055 rs794727742 |
365 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1473783632 | 366 | E>K | No |
TOPMed gnomAD |
|
| rs1187090250 | 367 | E>D | No |
TOPMed gnomAD |
|
| rs1255343241 | 367 | E>V | No | gnomAD | |
| rs1253774672 | 368 | T>K | No | gnomAD | |
| rs1253774672 | 368 | T>M | No | gnomAD | |
| rs8037349 | 368 | T>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10603354 RCV000400594 rs886041531 |
369 | A>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1202169554 | 369 | A>E | No | gnomAD | |
| rs1202169554 | 369 | A>G | No | gnomAD | |
| rs1439252969 | 370 | S>N | No |
TOPMed gnomAD |
|
| rs1964062909 | 370 | S>R | No | gnomAD | |
| rs1741886972 | 370 | S>R | No | TOPMed | |
| rs1290065337 | 371 | G>D | No | gnomAD | |
| rs1306629173 | 371 | G>S | No | gnomAD | |
| rs1331968966 | 372 | A>E | No | gnomAD | |
| rs1229552986 | 372 | A>S | No | gnomAD | |
| rs1229552986 | 372 | A>T | No | gnomAD | |
| rs1292098815 | 373 | R>P | No |
TOPMed gnomAD |
|
| rs1292098815 | 373 | R>Q | No |
TOPMed gnomAD |
|
| rs1351627537 | 374 | G>D | No |
TOPMed gnomAD |
|
| rs1351627537 | 374 | G>V | No |
TOPMed gnomAD |
|
| rs557460012 | 375 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1300335031 | 375 | P>S | No | gnomAD | |
| rs1324387832 | 376 | P>L | No |
TOPMed gnomAD |
|
| rs539554255 | 377 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs539554255 | 377 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs539554255 | 377 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1463110793 | 377 | R>W | No |
TOPMed gnomAD |
|
| rs1164279929 | 378 | H>P | No | gnomAD | |
| rs760397762 | 378 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1964061847 | 378 | H>Y | No | Ensembl | |
| TCGA novel | 379 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1414086463 | 379 | R>L | No |
TOPMed gnomAD |
|
| rs1414086463 | 379 | R>P | No |
TOPMed gnomAD |
|
|
RCV001760716 rs914657562 |
380 | S>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs565416052 | 381 | E>* | No |
1000Genomes TOPMed gnomAD |
|
| rs1180657517 | 381 | E>D | No | gnomAD | |
| rs565416052 | 381 | E>K | No |
1000Genomes TOPMed gnomAD |
|
| rs1964061453 | 382 | T>A | No | Ensembl | |
| rs1246950817 | 382 | T>I | No |
TOPMed gnomAD |
|
| rs1246950817 | 382 | T>S | No |
TOPMed gnomAD |
|
| rs1223367049 | 383 | R>L | No |
TOPMed gnomAD |
|
|
RCV001567035 rs2142028862 |
384 | I>missing | No |
ClinVar dbSNP |
|
| rs1596078329 | 384 | I>L | No | Ensembl | |
| rs990184526 | 384 | I>N | No |
TOPMed gnomAD |
|
| rs1964061031 | 385 | I>V | No | Ensembl | |
| rs587780374 | 387 | R>G | No |
TOPMed gnomAD |
|
|
rs587780374 RCV000117410 CA020183 |
387 | R>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1443757855 | 388 | G>D | No |
TOPMed gnomAD |
|
|
RCV000728505 rs773149035 |
388 | G>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1443757855 | 388 | G>V | No |
TOPMed gnomAD |
|
| rs1371167571 | 389 | R>L | No |
TOPMed gnomAD |
|
| rs1371167571 | 389 | R>P | No |
TOPMed gnomAD |
|
| rs1371167571 | 389 | R>Q | No |
TOPMed gnomAD |
|
| rs1373000195 | 389 | R>W | No |
TOPMed gnomAD |
|
| rs1964060352 | 390 | R>G | No | Ensembl | |
| rs1596078308 | 392 | P>A | No | 1000Genomes | |
| rs1964060130 | 392 | P>L | No | TOPMed | |
| rs1596078308 | 392 | P>T | No | 1000Genomes | |
| rs1964059967 | 393 | G>D | No |
TOPMed gnomAD |
|
| rs2142028728 | 396 | T>P | No | Ensembl | |
| rs1004008713 | 397 | A>V | No |
TOPMed gnomAD |
|
| rs1326725262 | 398 | S>P | No |
TOPMed gnomAD |
|
| rs1273718375 | 400 | A>T | No |
TOPMed gnomAD |
|
| rs1189578884 | 401 | A>G | No |
1000Genomes TOPMed gnomAD |
|
| rs2142028660 | 401 | A>P | No | Ensembl | |
| rs1189578884 | 401 | A>V | No |
1000Genomes TOPMed gnomAD |
|
| rs1964059229 | 402 | A>D | No | TOPMed | |
| rs1964059288 | 402 | A>S | No | TOPMed | |
| rs1964059288 | 402 | A>T | No | TOPMed | |
| rs1964059138 | 404 | R>C | No | gnomAD | |
|
RCV001756326 rs1283535550 |
404 | R>H | No |
ClinVar dbSNP gnomAD |
|
| rs1463332375 | 406 | G>A | No |
TOPMed gnomAD |
|
| rs1596078266 | 406 | G>S | No | Ensembl | |
| rs1457777027 | 407 | A>S | No | gnomAD | |
| rs587780375 | 407 | A>V | No |
1000Genomes TOPMed gnomAD |
|
| rs1374799870 | 408 | E>K | No |
TOPMed gnomAD |
|
| rs1305842397 | 408 | E>V | No | gnomAD | |
| rs1156781974 | 409 | C>W | No |
TOPMed gnomAD |
|
| rs1234874847 | 410 | A>V | No | TOPMed | |
| TCGA novel | 411 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1334100370 | 413 | R>G | No | TOPMed | |
| rs1964057844 | 414 | A>D | No |
TOPMed gnomAD |
|
| rs1219215322 | 414 | A>P | No |
TOPMed gnomAD |
|
| rs1219215322 | 414 | A>T | No |
TOPMed gnomAD |
|
| rs1964057844 | 414 | A>V | No |
TOPMed gnomAD |
|
| rs1418318479 | 415 | C>F | No |
TOPMed gnomAD |
|
| rs1418318479 | 415 | C>S | No |
TOPMed gnomAD |
|
| rs1964057629 | 417 | D>E | No |
1000Genomes TOPMed |
|
| rs1334118917 | 418 | A>V | No |
TOPMed gnomAD |
|
| rs1192692567 | 419 | A>S | No | gnomAD | |
| rs1964057493 | 420 | Y>C | No | TOPMed | |
|
RCV000500775 rs1555424863 CA393771510 |
421 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1003549826 | 422 | L>F | No |
TOPMed gnomAD |
|
| rs1003549826 | 422 | L>V | No |
TOPMed gnomAD |
|
| rs1964057053 | 423 | L>F | No |
TOPMed gnomAD |
|
| rs1964057135 | 423 | L>S | No | TOPMed | |
| rs1596078214 | 424 | R>H | No | Ensembl | |
| rs2142028439 | 428 | A>T | No | Ensembl | |
| rs1964056805 | 429 | E>G | No | TOPMed | |
| rs1368352498 | 430 | P>A | No | TOPMed | |
| rs1964056546 | 431 | G>A | No | TOPMed | |
| rs1293694840 | 431 | G>R | No |
TOPMed gnomAD |
|
| rs1293694840 | 431 | G>W | No |
TOPMed gnomAD |
|
| rs1297621505 | 433 | P>L | No |
TOPMed gnomAD |
|
| rs1272520977 | 434 | G>R | No | TOPMed | |
| TCGA novel | 435 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs943953208 | 436 | A>V | No |
TOPMed gnomAD |
|
| rs912476277 | 437 | A>S | No |
TOPMed gnomAD |
|
| rs912476277 | 437 | A>T | No |
TOPMed gnomAD |
|
| rs1964055829 | 437 | A>V | No | TOPMed | |
| rs1263045856 | 438 | R>C | No |
TOPMed gnomAD |
|
| rs1428404363 | 438 | R>H | No |
TOPMed gnomAD |
|
| rs1964055587 | 439 | K>E | No | Ensembl | |
| rs1214331197 | 441 | R>H | No |
TOPMed gnomAD |
|
| rs1214331197 | 441 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs747307729 | 442 | D>N | No |
TOPMed gnomAD |
|
| rs1444012324 | 443 | W>* | No | gnomAD | |
| TCGA novel | 443 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749334538 | 443 | W>R | No |
ExAC gnomAD |
|
| rs1964055182 | 444 | L>Q | No | Ensembl | |
| rs531899410 | 445 | C>* | No |
1000Genomes gnomAD |
|
| rs1964055139 | 445 | C>F | No | gnomAD | |
| rs951204252 | 446 | A>D | No |
TOPMed gnomAD |
|
| rs1964054912 | 447 | V>F | No | gnomAD | |
| rs1964054912 | 447 | V>L | No | gnomAD | |
| rs1435938286 | 450 | E>D | No |
TOPMed gnomAD |
|
| rs1302882729 | 450 | E>K | No |
TOPMed gnomAD |
|
| rs1302882729 | 450 | E>Q | No |
TOPMed gnomAD |
|
| rs1964054645 | 451 | R>H | No | TOPMed | |
| rs1364124129 | 451 | R>S | No | gnomAD | |
| rs886051532 | 453 | A>D | No |
TOPMed gnomAD |
|
| rs1964054535 | 453 | A>S | No |
TOPMed gnomAD |
|
| TCGA novel | 453 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1359666117 | 455 | S>C | No |
TOPMed gnomAD |
|
| rs1359666117 | 455 | S>G | No |
TOPMed gnomAD |
|
| rs2142028136 | 455 | S>N | No | Ensembl | |
| rs1359666117 | 455 | S>R | No |
TOPMed gnomAD |
|
| rs1394120733 | 457 | A>D | No | gnomAD | |
| rs1964054148 | 458 | S>F | No | Ensembl | |
| rs1429893583 | 460 | P>S | No |
TOPMed gnomAD |
|
| rs1429893583 | 460 | P>T | No |
TOPMed gnomAD |
|
| rs1455184212 | 462 | S>C | No |
TOPMed gnomAD |
|
| rs1964053765 | 462 | S>I | No |
TOPMed gnomAD |
|
| rs1238493916 | 463 | G>D | No | gnomAD | |
| rs1355045012 | 464 | I>M | No |
TOPMed gnomAD |
|
| rs1346111280 | 466 | S>G | No | gnomAD | |
| rs1229468079 | 467 | A>V | No | gnomAD | |
| rs1964053271 | 468 | S>F | No | TOPMed | |
| rs1309467371 | 468 | S>T | No |
TOPMed gnomAD |
|
| rs1964053271 | 468 | S>Y | No | TOPMed | |
| TCGA novel | 469 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 470 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1964053055 | 471 | D>E | No | Ensembl | |
| rs794727744 | 473 | A>E | No |
TOPMed gnomAD |
|
|
CA020208 rs794727744 RCV000179057 |
473 | A>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs794727744 | 473 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs746154896 | 474 | A>T | No |
ExAC gnomAD |
|
| rs1374666466 | 474 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2142027941 | 475 | Q>K | No | Ensembl | |
| rs963508592 | 475 | Q>P | No |
TOPMed gnomAD |
|
| rs2142027933 | 476 | G>E | No | Ensembl | |
| rs932064476 | 476 | G>W | No |
TOPMed gnomAD |
|
| rs2142027914 | 478 | G>S | No | Ensembl | |
| rs1964052366 | 479 | G>E | No | Ensembl | |
| rs1190648779 | 481 | K>R | No | gnomAD | |
| rs1045937674 | 482 | E>V | No |
TOPMed gnomAD |
|
| rs1964040774 | 485 | G>R | No | gnomAD | |
| rs776875275 | 486 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs776875275 | 486 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1396213606 | 487 | Q>K | No | gnomAD | |
| rs747377638 | 489 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1964040377 | 490 | L>V | No | Ensembl | |
| rs778060579 | 491 | T>N | No |
ExAC gnomAD |
|
| rs1964040246 | 492 | L>V | No | Ensembl | |
| rs1455773792 | 493 | Q>* | No |
TOPMed gnomAD |
|
| rs1964040070 | 494 | N>K | No | Ensembl | |
| rs1313323843 | 494 | N>S | No | TOPMed | |
| rs1964040026 | 495 | Q>* | No | TOPMed | |
| rs1362468897 | 495 | Q>H | No | gnomAD | |
| rs758971206 | 496 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs201380238 | 497 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754486000 | 498 | R>Q | No |
ExAC gnomAD |
|
| rs779573009 | 498 | R>W | No |
ExAC gnomAD |
|
| rs1964039618 | 499 | L>P | No | gnomAD | |
| rs1206868473 | 500 | E>G | No | gnomAD | |
| rs1964039457 | 501 | E>G | No | TOPMed | |
| rs1348428914 | 501 | E>K | No | gnomAD | |
| rs755770116 | 504 | R>* | No |
ExAC gnomAD |
|
| rs1964039270 | 505 | D>G | No | TOPMed | |
| rs761599926 | 506 | F>C | No |
ExAC gnomAD |
|
| rs767365479 | 506 | F>L | No |
ExAC gnomAD |
|
| rs774225268 | 507 | L>V | No |
ExAC gnomAD |
|
| rs1403008224 | 509 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs771174344 | 511 | E>A | No |
ExAC gnomAD |
|
| rs1397142983 | 511 | E>D | No | gnomAD | |
| rs1964038681 | 513 | A>T | No | Ensembl | |
|
COSM3505305 COSM3505306 |
514 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1964038636 | 515 | E>V | No | gnomAD | |
| rs1964038494 | 516 | Q>H | No | TOPMed | |
| rs1250146203 | 516 | Q>K | Acrocallosal syndrome (acls) [Ensembl] | No | gnomAD |
| rs1453971108 | 517 | Y>* | No | gnomAD | |
| TCGA novel | 517 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs957015169 | 518 | K>Q | No | TOPMed | |
| rs773577708 | 519 | L>P | No |
ExAC gnomAD |
|
| rs1242830030 | 519 | L>V | No | gnomAD | |
| rs1445212362 | 520 | Q>* | No | gnomAD | |
| rs772511735 | 520 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs774902437 | 522 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs946470040 | 523 | R>W | No |
TOPMed gnomAD |
|
| rs780615343 | 525 | R>C | No |
ExAC gnomAD |
|
| rs769127608 | 525 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1436845524 | 526 | E>Q | No |
TOPMed gnomAD |
|
| rs1273337515 | 527 | Q>* | No | gnomAD | |
| rs142282670 | 528 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs891654422 | 530 | E>A | No | Ensembl | |
| rs1228139593 | 531 | M>K | No |
TOPMed gnomAD |
|
| rs1228139593 | 531 | M>T | No |
TOPMed gnomAD |
|
| rs1364028483 | 531 | M>V | No |
TOPMed gnomAD |
|
| rs1224705606 | 532 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1276471321 | 533 | E>G | No | TOPMed | |
| rs1374554878 | 533 | E>K | No | gnomAD | |
| rs751344600 | 534 | L>M | No |
ExAC gnomAD |
|
| rs777615277 | 534 | L>Q | No |
ExAC gnomAD |
|
| rs1326668086 | 535 | R>P | No | gnomAD | |
|
RCV001772375 rs1326668086 |
535 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP gnomAD |
| rs758219521 | 535 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1163941455 | 537 | R>Q | No | gnomAD | |
|
COSM3817027 COSM3817028 |
539 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1409958046 | 541 | V>M | No | gnomAD | |
| rs935745017 | 542 | R>W | No |
TOPMed gnomAD |
|
| rs1194977061 | 543 | P>L | No | gnomAD | |
| rs750567055 | 545 | W>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767823809 | 545 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs750567055 | 545 | W>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1221535786 | 546 | G>A | No | gnomAD | |
|
RCV001763181 rs1221535786 |
546 | G>E | No |
ClinVar dbSNP gnomAD |
|
| rs1567066309 | 546 | G>W | No | Ensembl | |
|
COSM2015659 rs770571299 COSM2015660 |
547 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1247429462 | 547 | G>C | No |
TOPMed gnomAD |
|
| rs1247429462 | 547 | G>S | No |
TOPMed gnomAD |
|
| rs1596077169 | 548 | P>S | No | Ensembl | |
|
COSM5743708 rs770571299 COSM5743709 |
549 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1222355686 | 549 | R>L | No |
TOPMed gnomAD |
|
| rs1222355686 | 549 | R>Q | No |
TOPMed gnomAD |
|
| rs763388257 | 550 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs763388257 | 550 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1964024659 | 552 | N>S | No | Ensembl | |
| rs745360830 | 555 | P>R | No |
ExAC gnomAD |
|
| rs151155363 | 555 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2142024971 | 556 | P>L | No | Ensembl | |
| rs963843554 | 557 | G>E | No | Ensembl | |
| rs780740523 | 557 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs780740523 | 557 | G>W | No |
ExAC TOPMed gnomAD |
|
|
COSM4943067 COSM4943068 |
558 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1217875912 | 561 | P>L | No | gnomAD | |
| rs1325092086 | 561 | P>S | No |
TOPMed gnomAD |
|
| rs1325092086 | 561 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs777497706 | 562 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1555424672 | 563 | P>R | No | Ensembl | |
| rs548587196 | 563 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs1244277390 | 565 | T>A | No |
TOPMed gnomAD |
|
| rs536773143 | 566 | A>G | No |
1000Genomes ExAC |
|
| rs1232303308 | 566 | A>S | No | TOPMed | |
| rs536773143 | 566 | A>V | No |
1000Genomes ExAC |
|
|
COSM3505304 rs1353389253 COSM3505303 |
567 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs772716663 COSM5081697 |
568 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1964023308 | 568 | L>Q | No | TOPMed | |
| rs1964023308 | 568 | L>R | No | TOPMed | |
|
COSM1375354 COSM1375355 |
568 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2015651 COSM2015652 |
570 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1057517751 | 570 | G>V | No |
TOPMed gnomAD |
|
| rs1215172653 | 571 | A>V | No | gnomAD | |
| rs761986123 | 572 | H>N | No |
ExAC gnomAD |
|
| rs369321011 | 573 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1314470026 | 575 | V>G | No | gnomAD | |
| rs963468113 | 577 | G>D | No | TOPMed | |
| rs1159063378 | 577 | G>R | No | TOPMed | |
| rs868635157 | 578 | M>I | No | TOPMed | |
| rs1294736804 | 578 | M>V | No |
TOPMed gnomAD |
|
| rs531366745 | 579 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000203145 rs564412082 CA249346 |
580 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000995424 rs769897141 |
581 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1964022024 | 583 | C>F | No |
TOPMed gnomAD |
|
| rs770372033 | 584 | L>F | No |
ExAC gnomAD |
|
| rs1213467135 | 585 | P>R | No | gnomAD | |
| rs1964021837 | 586 | G>R | No | Ensembl | |
| rs1964021648 | 589 | V>I | No | gnomAD | |
| rs2142024694 | 591 | S>A | No | Ensembl | |
| rs1964021510 | 592 | E>K | No | Ensembl | |
|
COSM458936 COSM458935 |
592 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228276726 | 594 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 595 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771793486 | 595 | G>R | No |
ExAC gnomAD |
|
| TCGA novel | 595 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1964006718 | 598 | V>L | No | gnomAD | |
| TCGA novel | 598 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1331294307 | 599 | T>I | No | TOPMed | |
| rs765678770 | 600 | N>D | No | TOPMed | |
| rs1964006503 | 601 | G>R | No | TOPMed | |
| rs756170615 | 602 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs576856116 | 603 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1964006373 | 604 | A>T | No | TOPMed | |
| rs758413579 | 606 | A>G | No |
ExAC gnomAD |
|
| rs1964006292 | 606 | A>S | No | TOPMed | |
| rs758413579 | 606 | A>V | No |
ExAC gnomAD |
|
| rs201152117 | 608 | L>F | No |
TOPMed gnomAD |
|
| rs1964006112 | 609 | L>P | No | TOPMed | |
| rs1964006019 | 610 | T>S | No | TOPMed | |
|
COSM1301559 COSM1301558 |
611 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs993149094 | 611 | E>V | No |
TOPMed gnomAD |
|
| rs1567065777 | 613 | N>D | No | Ensembl | |
| rs752909113 | 613 | N>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 613 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765469300 | 615 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1351864265 | 615 | L>P | No | gnomAD | |
| rs755299478 | 617 | S>G | No |
ExAC gnomAD |
|
| rs754245298 | 618 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs754245298 | 618 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs761298232 | 621 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs749893989 | 622 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs761241253 | 623 | S>* | No |
ExAC gnomAD |
|
| rs766982588 | 623 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs1239886550 | 624 | E>G | No | TOPMed | |
| rs1964005320 | 624 | E>K | No | TOPMed | |
| rs1260155163 | 625 | E>G | No | TOPMed | |
| rs1018006147 | 627 | E>G | No | Ensembl | |
| rs768761617 | 628 | E>* | No |
ExAC gnomAD |
|
| rs1964004836 | 630 | E>D | No | gnomAD | |
| rs1964004883 | 630 | E>K | No | Ensembl | |
|
COSM4825061 COSM4825062 |
631 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs115857753 | 632 | P>R | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs1964004390 | 633 | P>L | No | TOPMed | |
| rs745753735 | 633 | P>S | No |
ExAC gnomAD |
|
| rs1596076570 | 634 | R>M | No | Ensembl | |
| rs747191989 | 635 | R>P | No |
TOPMed gnomAD |
|
|
rs747191989 COSM4912340 COSM4912339 |
635 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs573596238 | 636 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1285010636 | 636 | T>N | No |
TOPMed gnomAD |
|
| rs779079784 | 637 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs748210059 | 637 | L>S | No |
ExAC gnomAD |
|
| rs1231810846 | 638 | H>D | No | gnomAD | |
| rs1231810846 | 638 | H>Y | No | gnomAD | |
|
COSM5054586 COSM5054587 rs780460647 |
640 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs374723046 | 642 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1444985152 | 642 | N>Y | No | TOPMed | |
| rs751109478 | 643 | R>G | No |
ExAC gnomAD |
|
| rs1282769058 | 643 | R>S | No | gnomAD | |
| rs372447563 | 645 | S>G | No | ESP | |
| rs763632146 | 645 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1963995003 | 646 | N>K | No | Ensembl | |
| rs1333457872 | 649 | Q>* | No | gnomAD | |
| rs1464082590 | 649 | Q>R | No | gnomAD | |
| rs1399497050 | 650 | R>K | No | gnomAD | |
| rs1963994739 | 651 | A>P | No | TOPMed | |
| rs368611732 | 651 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1411427676 | 652 | G>A | No | gnomAD | |
|
rs1411427676 COSM1563298 COSM1563297 |
652 | G>E | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1963994626 | 652 | G>R | No | gnomAD | |
| rs759348347 | 653 | A>T | No |
ExAC gnomAD |
|
| rs370083276 | 654 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs773135230 | 655 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs773135230 | 655 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs768662526 | 657 | S>G | No |
ExAC gnomAD |
|
| rs367617135 | 657 | S>T | No |
ESP TOPMed gnomAD |
|
| rs749391087 | 660 | E>D | No |
ExAC gnomAD |
|
| rs1383761644 | 662 | K>E | No |
TOPMed gnomAD |
|
| rs1031213392 | 662 | K>N | No | TOPMed | |
| rs775649265 | 663 | G>D | No |
ExAC gnomAD |
|
| rs1412180728 | 663 | G>S | No | TOPMed | |
| rs1311685318 | 666 | L>F | No |
TOPMed gnomAD |
|
| rs1311685318 | 666 | L>I | No |
TOPMed gnomAD |
|
| rs1354425756 | 667 | C>Y | No | TOPMed | |
| rs1376314543 | 669 | E>D | No | gnomAD | |
| rs1963993583 | 670 | E>K | No | TOPMed | |
| rs370604741 | 671 | L>V | No |
ESP ExAC gnomAD |
|
| rs575882014 | 672 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1596076192 | 675 | I>V | No | Ensembl | |
| rs1401027354 | 676 | P>S | No | gnomAD | |
| rs757944322 | 679 | R>T | No |
ExAC gnomAD |
|
| TCGA novel | 680 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1963989690 | 681 | V>L | No | gnomAD | |
| rs1963989528 | 683 | G>E | No | Ensembl | |
| rs1963989388 | 686 | A>T | No | TOPMed | |
| rs200123657 | 687 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1466606411 | 688 | V>A | No | gnomAD | |
| rs1466606411 | 688 | V>G | No | gnomAD | |
| rs1963988987 | 689 | Q>E | No | Ensembl | |
| rs1426339621 | 689 | Q>H | No |
TOPMed gnomAD |
|
| rs776675588 | 690 | A>V | No |
ExAC gnomAD |
|
| rs565633539 | 692 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs202006539 | 693 | V>A | No | Ensembl | |
| rs550326630 | 693 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs779543411 | 695 | P>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 695 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779543411 | 695 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs969714062 | 698 | A>T | No |
TOPMed gnomAD |
|
| rs1217901267 | 699 | S>L | No | gnomAD | |
| rs750206767 | 700 | E>D | No |
ExAC gnomAD |
|
| rs1596076011 | 701 | W>G | No | Ensembl | |
| rs1298263995 | 703 | L>V | No | gnomAD | |
| rs751403084 | 704 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1403125207 | 705 | Q>* | No | gnomAD | |
| rs764121885 | 705 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764121885 | 705 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373361316 | 706 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963987401 | 707 | Q>* | No | gnomAD | |
| rs766692566 | 708 | Q>H | No |
ExAC gnomAD |
|
| rs1422293026 | 710 | I>M | No | gnomAD | |
| rs368873919 | 711 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs762264287 | 713 | L>V | No |
ExAC TOPMed |
|
| rs1236405663 | 714 | A>T | No | gnomAD | |
| rs1197995463 | 714 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs769247904 | 715 | I>M | No |
ExAC gnomAD |
|
| rs1963986844 | 716 | N>T | No | Ensembl | |
| rs775039962 | 717 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs138021610 | 718 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs372882880 | 718 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs777546530 | 719 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs746859616 | 719 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1446784669 | 721 | E>* | No |
TOPMed gnomAD |
|
| rs1963986397 | 721 | E>A | No | TOPMed | |
| rs1963986225 | 723 | L>F | No |
TOPMed gnomAD |
|
| rs1963986036 | 725 | G>D | No |
TOPMed gnomAD |
|
| rs1963985860 | 726 | E>D | No | Ensembl | |
| TCGA novel | 726 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1441761364 | 728 | V>I | No |
TOPMed gnomAD |
|
|
COSM5722352 COSM5722353 rs763584371 |
729 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1207873989 | 730 | T>P | No |
TOPMed gnomAD |
|
| rs1207873989 | 730 | T>S | No |
TOPMed gnomAD |
|
| rs1963940738 | 731 | G>V | No | gnomAD | |
| rs747991488 | 732 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1476697597 | 735 | Q>H | No | gnomAD | |
| TCGA novel | 735 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180242956 | 737 | L>P | No | Ensembl | |
| rs1963940299 | 738 | N>H | No | Ensembl | |
| rs2142017367 | 738 | N>T | No | Ensembl | |
| rs201789358 | 740 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| rs1379825883 | 743 | Q>H | No | TOPMed | |
| rs1269915713 | 744 | R>C | No | gnomAD | |
| rs758730416 | 744 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs758730416 | 744 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs919662081 | 745 | I>F | No |
TOPMed gnomAD |
|
| rs151317163 | 746 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1043165194 | 751 | E>G | No | Ensembl | |
| rs1963938971 | 752 | A>S | No | Ensembl | |
| rs2142017239 | 753 | E>Q | No | Ensembl | |
| rs1010622346 | 754 | Q>E | No | TOPMed | |
| rs761681469 | 754 | Q>R | No |
ExAC gnomAD |
|
| rs774348571 | 755 | V>A | No |
ExAC gnomAD |
|
| rs1186278547 | 755 | V>L | No |
TOPMed gnomAD |
|
| rs1186278547 | 755 | V>M | No |
TOPMed gnomAD |
|
| rs749173316 | 756 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001758809 rs570853380 |
756 | R>W | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1272826943 | 757 | A>V | No | gnomAD | |
| rs527766106 | 758 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs527766106 | 758 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1963938085 | 759 | L>M | No | Ensembl | |
| VAR_066453 | 759 | L>P | found in a patient with Bardet-Biedl syndrome; uncertain significance; hypomorphic variant in vitro [UniProt] | No | UniProt |
| rs1963938008 | 760 | S>N | No | TOPMed | |
| rs778032299 | 760 | S>R | No |
ExAC gnomAD |
|
|
CA7728248 RCV000489800 rs753052634 |
762 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs1324022945 | 763 | Q>* | Acrocallosal syndrome (acls) [Ensembl] | No | gnomAD |
| rs1020488870 | 764 | R>K | No |
TOPMed gnomAD |
|
| rs1392281954 | 764 | R>S | No | TOPMed | |
| rs556273497 | 765 | Q>H | No | gnomAD | |
| rs755346269 | 765 | Q>R | No |
ExAC gnomAD |
|
| rs1439862748 | 766 | L>M | No | gnomAD | |
| rs371196179 | 766 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs371196179 | 766 | L>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs760206389 | 767 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs749953290 | 768 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs75327709 | 768 | E>G | No | Ensembl | |
| rs767268207 | 769 | L>F | No | ExAC | |
| rs1222820551 | 769 | L>R | No | gnomAD | |
| rs148779858 | 770 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs774153706 | 771 | G>S | No |
ExAC gnomAD |
|
| TCGA novel | 772 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596074353 | 773 | E>K | No | Ensembl | |
| rs762864604 | 774 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs1963936773 | 774 | L>I | No | Ensembl | |
| rs769667870 | 776 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1435993407 | 776 | D>G | No | TOPMed | |
| rs1249809748 | 776 | D>Y | No |
TOPMed gnomAD |
|
| rs1963936388 | 778 | G>D | No | Ensembl | |
| rs765158952 | 778 | G>R | No | gnomAD | |
| rs765158952 | 778 | G>S | No | gnomAD | |
| rs116823950 | 779 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs202089770 | 779 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs116823950 | 779 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs370339841 | 780 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370339841 | 780 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs377300719 | 780 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1156356003 | 781 | S>F | No | gnomAD | |
| rs886051530 | 781 | S>T | No |
TOPMed gnomAD |
|
|
COSM434518 COSM434519 rs780592854 |
782 | R>W | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1479254747 | 783 | L>I | No | gnomAD | |
| rs1479254747 | 783 | L>V | No | gnomAD | |
| rs1308885017 | 784 | Q>* | No |
TOPMed gnomAD |
|
| rs2142016962 | 784 | Q>R | No | Ensembl | |
| rs529209853 | 785 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1963935532 | 785 | E>K | No | Ensembl | |
| rs775204546 | 787 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs929788182 | 790 | V>F | No |
TOPMed gnomAD |
|
| rs929788182 | 790 | V>I | No |
TOPMed gnomAD |
|
| rs1429326502 | 791 | A>G | No |
TOPMed gnomAD |
|
| rs375985448 | 792 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs375985448 | 792 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1177602980 | 793 | A>V | No |
TOPMed gnomAD |
|
| rs780353194 | 794 | Q>H | No |
ExAC gnomAD |
|
| rs1022092646 | 796 | Q>E | No | Ensembl | |
| rs781770350 | 796 | Q>H | No |
ExAC gnomAD |
|
| rs746304930 | 796 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs746304930 | 796 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1596074247 | 797 | V>G | No | Ensembl | |
| rs1265734614 | 797 | V>L | No | gnomAD | |
| TCGA novel | 799 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775535847 | 799 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs770095161 | 800 | L>P | No |
ExAC gnomAD |
|
| rs1005584282 | 801 | K>R | No | Ensembl | |
| rs1963742875 | 802 | E>Q | No | gnomAD | |
| rs1248291268 | 803 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1963742717 | 803 | K>R | No | TOPMed | |
| TCGA novel | 804 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567060210 | 805 | Q>P | No | Ensembl | |
| rs146186236 | 806 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs146186236 | 806 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963742240 | 808 | E>G | No | TOPMed | |
|
COSM3817024 COSM3817023 |
808 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367734857 | 809 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs758378987 | 809 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs758378987 | 809 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1963741904 | 810 | L>Q | No | Ensembl | |
| rs1963741958 | 810 | L>V | No |
TOPMed gnomAD |
|
| rs752872113 | 811 | V>A | No |
ExAC gnomAD |
|
| rs752872113 | 811 | V>G | No |
ExAC gnomAD |
|
| rs1391914901 | 811 | V>L | No | gnomAD | |
| rs759765964 | 812 | S>* | No |
ExAC gnomAD |
|
| rs765371328 | 812 | S>A | No |
ExAC gnomAD |
|
| rs759765964 | 812 | S>L | No |
ExAC gnomAD |
|
| rs575297087 | 813 | L>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs575297087 | 813 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs139642540 | 814 | S>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1421629514 | 814 | S>A | No | gnomAD | |
| rs139642540 | 814 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963741096 | 815 | A>D | No | Ensembl | |
|
COSM4537631 COSM4537632 |
815 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1269284205 | 816 | Q>H | No | gnomAD | |
| TCGA novel | 816 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596068885 | 816 | Q>P | No | TOPMed | |
| rs1596068885 | 816 | Q>R | No | TOPMed | |
| rs772680332 | 817 | S>N | No |
ExAC gnomAD |
|
| rs200055380 | 817 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1468593482 | 819 | K>N | No | TOPMed | |
| rs150595682 | 820 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs150595682 | 820 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs374638470 | 820 | R>P | Acrocallosal syndrome (acls) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs745705713 | 822 | Q>E | No |
ExAC gnomAD |
|
| rs780970705 | 822 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1963740358 | 822 | Q>R | No | TOPMed | |
| rs757284705 | 823 | E>G | No |
ExAC gnomAD |
|
| rs751454262 | 824 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs558861570 | 825 | E>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs558861570 COSM261688 COSM261689 |
825 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs558861570 | 825 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs148044329 | 826 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 826 | R>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs987512190 | 827 | N>S | No |
TOPMed gnomAD |
|
| rs1200179301 | 829 | Q>E | No | TOPMed | |
| rs1480004697 | 829 | Q>H | No | gnomAD | |
| rs768110060 | 829 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs748828629 | 830 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs748828629 | 830 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1444851373 | 831 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs775093018 | 831 | M>V | No |
ExAC gnomAD |
|
|
rs371841682 RCV001757044 |
832 | R>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs746915003 | 833 | Q>* | Acrocallosal syndrome (acls) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs746915003 | 833 | Q>E | Acrocallosal syndrome (acls) [Ensembl] | No |
ExAC TOPMed gnomAD |
|
RCV001757050 rs777880634 |
833 | Q>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1323293002 | 834 | Q>* | No | gnomAD | |
|
rs1567060070 RCV000760754 |
835 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1567060070 | 835 | Q>E | No | Ensembl | |
| rs1567060066 | 836 | G>A | No | Ensembl | |
|
CA393759755 RCV000492941 rs1131691958 |
837 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1131691958 | 837 | Q>E | No | gnomAD | |
| rs367977261 | 838 | L>V | No | ESP | |
| rs1016037218 | 839 | Q>* | No | TOPMed | |
| rs754017849 | 840 | R>W | No |
ExAC gnomAD |
|
| rs767869939 | 842 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs767869939 | 842 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs370901791 | 843 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
|
rs760348444 RCV001786738 |
844 | E>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs759168186 | 845 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1240669714 | 846 | T>A | No |
TOPMed gnomAD |
|
| rs151034440 | 846 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1567060034 | 848 | Q>E | No | Ensembl | |
| rs1963736791 | 853 | E>A | No |
TOPMed gnomAD |
|
| rs1333170956 | 853 | E>K | No |
TOPMed gnomAD |
|
| rs1963736638 | 854 | A>E | No | Ensembl | |
| rs547299679 | 854 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1963736413 | 857 | S>T | No | Ensembl | |
| rs145701524 | 859 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1212500 rs753215849 |
859 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs145701524 | 859 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1043221006 | 861 | H>R | No |
TOPMed gnomAD |
|
| rs767054471 | 863 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs767054471 | 863 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs772000394 | 864 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1313079618 | 864 | K>R | No |
TOPMed gnomAD |
|
| rs1313079618 | 864 | K>T | No |
TOPMed gnomAD |
|
| rs1213704961 | 865 | E>K | No | gnomAD | |
| rs1963726110 | 866 | L>P | No | TOPMed | |
| rs1963726022 | 867 | E>G | No | gnomAD | |
| rs1328669185 | 867 | E>K | No | TOPMed | |
| rs866844676 | 870 | H>N | No |
TOPMed gnomAD |
|
| rs530861601 | 870 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs866844676 | 870 | H>Y | No |
TOPMed gnomAD |
|
| rs144359873 | 871 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs370595622 | 871 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963725473 | 872 | Q>R | No | Ensembl | |
| rs1963725426 | 873 | Q>R | No | Ensembl | |
|
COSM4696228 COSM4696229 |
875 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1046105811 | 878 | K>N | No | gnomAD | |
| rs1471206637 | 879 | I>M | No |
TOPMed gnomAD |
|
| rs1341111375 | 880 | K>N | No |
TOPMed gnomAD |
|
| rs372660203 | 881 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1429390462 | 882 | E>* | No | gnomAD | |
| TCGA novel | 882 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001358409 rs765751072 |
883 | E>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755711268 | 884 | I>F | No |
ExAC gnomAD |
|
| rs750064265 | 884 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs139217034 | 885 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1199012519 | 886 | A>S | No | gnomAD | |
| rs1308930729 | 886 | A>V | No | gnomAD | |
| rs1963724143 | 889 | R>G | No | Ensembl | |
| rs770875091 | 889 | R>K | No |
ExAC gnomAD |
|
| rs1379272705 | 889 | R>S | No |
TOPMed gnomAD |
|
| rs773401432 | 891 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1356594136 | 893 | S>G | No |
TOPMed gnomAD |
|
| rs1168617390 | 894 | G>D | No | gnomAD | |
| rs1386011317 | 895 | S>I | No |
TOPMed gnomAD |
|
| rs200371061 | 895 | S>R | No | Ensembl | |
| rs1386011317 | 895 | S>T | No |
TOPMed gnomAD |
|
|
COSM3505298 COSM3505297 |
896 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596068232 | 896 | N>S | No | TOPMed | |
| rs1596068232 | 896 | N>T | No | TOPMed | |
| rs749711306 | 897 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1963723048 | 898 | S>C | No | TOPMed | |
| rs927320562 | 898 | S>P | No |
TOPMed gnomAD |
|
| rs1963722945 | 899 | V>A | No | TOPMed | |
| rs780978317 | 900 | V>A | No |
ExAC gnomAD |
|
| rs780978317 | 900 | V>G | No |
ExAC gnomAD |
|
| rs750006883 | 900 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs750006883 | 900 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777523681 | 901 | S>R | No | gnomAD | |
| rs1381354317 | 903 | E>* | No |
TOPMed gnomAD |
|
| rs1381354317 | 903 | E>Q | No |
TOPMed gnomAD |
|
| rs1392418047 | 904 | Q>* | No |
TOPMed gnomAD |
|
| rs757037566 | 904 | Q>L | No |
ExAC gnomAD |
|
| rs1963722312 | 905 | Q>R | No | TOPMed | |
| rs1963715012 | 907 | K>N | No | Ensembl | |
| rs753784742 | 908 | I>T | No |
ExAC gnomAD |
|
| rs1406527339 | 910 | E>* | No |
TOPMed gnomAD |
|
| rs1406527339 | 910 | E>K | No |
TOPMed gnomAD |
|
| rs1406527339 | 910 | E>Q | No |
TOPMed gnomAD |
|
| rs1963714615 | 911 | Q>E | No | gnomAD | |
| rs761986869 | 911 | Q>L | No |
ExAC gnomAD |
|
| rs761986869 | 911 | Q>P | No |
ExAC gnomAD |
|
| rs947433457 | 912 | K>N | No |
TOPMed gnomAD |
|
| rs763217993 | 913 | K>* | No |
ExAC gnomAD |
|
| rs776064132 | 913 | K>R | No |
ExAC TOPMed gnomAD |
|
|
RCV000722437 rs1567059453 |
913 | K>W | No |
ClinVar Ensembl dbSNP |
|
| rs1178907153 | 914 | W>C | No | gnomAD | |
| rs1963714014 | 915 | L>P | No | Ensembl | |
| rs1229750755 | 916 | D>G | No | gnomAD | |
|
rs1963713978 COSM3944317 |
916 | D>Y | ovary [Cosmic] | No |
cosmic curated Ensembl |
| rs1567059438 | 917 | Q>* | No | Ensembl | |
| rs777302046 | 917 | Q>H | No |
ExAC gnomAD |
|
| rs867222588 | 918 | E>K | No | Ensembl | |
| rs1197089621 | 919 | M>I | No | TOPMed | |
| rs1265443801 | 919 | M>T | No |
TOPMed gnomAD |
|
| rs746577567 | 920 | E>* | No |
1000Genomes ExAC gnomAD |
|
| rs746577567 | 920 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs372338933 | 924 | Q>* | Acrocallosal syndrome (acls) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs372338933 | 924 | Q>E | Acrocallosal syndrome (acls) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs747755753 | 925 | Q>K | No |
ExAC gnomAD |
|
| rs753737326 | 926 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs766347192 | 927 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs764218371 | 928 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1596067868 | 928 | A>S | No | Ensembl | |
| rs964966183 | 929 | L>V | No | Ensembl | |
| rs1372059117 | 933 | G>A | No | gnomAD | |
| rs372753898 | 934 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2142000454 | 934 | E>G | No | Ensembl | |
| rs556977418 | 934 | E>K | No | 1000Genomes | |
| rs1445809202 | 936 | L>F | No |
TOPMed gnomAD |
|
| rs887506789 | 937 | H>Q | No | gnomAD | |
| rs1317499145 | 937 | H>R | No | TOPMed | |
| rs760016965 | 938 | K>* | No |
ExAC gnomAD |
|
| rs1224400412 | 938 | K>N | No |
TOPMed gnomAD |
|
| rs1963711758 | 940 | E>K | No | TOPMed | |
| rs1337678290 | 941 | A>V | No | gnomAD | |
| rs746496879 | 942 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 943 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 943 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs556953796 | 944 | A>V | No |
TOPMed gnomAD |
|
| rs1963711516 | 945 | K>M | No | Ensembl | |
| rs372233228 | 946 | K>E | No |
ESP ExAC gnomAD |
|
| rs1963711390 | 946 | K>R | No | TOPMed | |
| rs369827484 | 947 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs138410620 | 948 | A>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs778564914 | 948 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs778564914 | 948 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs138410620 | 948 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs375379282 | 949 | L>P | No | Ensembl | |
| rs749134116 | 949 | L>V | No |
ExAC gnomAD |
|
| rs756146900 | 950 | M>T | No |
ExAC gnomAD |
|
| rs1162231638 | 951 | Q>* | No | gnomAD | |
| rs1963710702 | 952 | E>G | No | Ensembl | |
| rs1223442319 | 955 | G>E | No | gnomAD | |
| rs758433714 | 955 | G>W | No |
ExAC gnomAD |
|
| rs1361697027 | 957 | E>K | No | gnomAD | |
|
rs759963623 COSM966358 COSM966357 |
958 | S>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs754318099 | 959 | K>E | No |
ExAC gnomAD |
|
| rs766652877 | 960 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs149221245 | 960 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs149221245 | 960 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149221245 | 960 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963709591 | 961 | L>R | No | Ensembl | |
| TCGA novel | 962 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1406326426 | 962 | R>K | No | gnomAD | |
| rs1406326426 | 962 | R>T | No | gnomAD | |
| rs567836651 | 963 | S>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1963709316 | 964 | S>G | No | TOPMed | |
| rs779835765 | 964 | S>R | No |
ExAC gnomAD |
|
| rs1409311719 | 965 | Q>R | No | gnomAD | |
| rs886042165 | 966 | A>G | No | TOPMed | |
|
rs886042165 CA10603885 RCV000296970 |
966 | A>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs780178459 | 967 | L>F | No |
ExAC gnomAD |
|
| rs780178459 | 967 | L>V | No |
ExAC gnomAD |
|
| rs756477629 | 968 | N>K | No |
ExAC TOPMed gnomAD |
|
|
RCV000192450 CA205279 rs750812056 RCV000766286 |
969 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1243705479 | 969 | E>K | No | gnomAD | |
| rs911104750 | 971 | I>V | No | gnomAD | |
| rs1963681560 | 972 | V>G | No | TOPMed | |
| rs79839906 | 972 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs775179475 | 974 | V>A | No |
ExAC gnomAD |
|
| rs1006839998 | 974 | V>M | No |
TOPMed gnomAD |
|
| rs764853570 | 975 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1963681155 | 976 | S>N | No | TOPMed | |
| rs1388249791 | 978 | L>P | No |
TOPMed gnomAD |
|
| rs1163417627 | 983 | K>E | No | gnomAD | |
| rs1555423298 | 983 | K>R | No | Ensembl | |
|
RCV000174963 rs794727157 CA020307 |
987 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 988 | K>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1489699836 | 988 | K>R | No |
TOPMed gnomAD |
|
| rs1963679806 | 990 | G>E | No | TOPMed | |
| rs756359749 | 990 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs756359749 | 990 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs867666556 | 992 | L>M | No |
TOPMed gnomAD |
|
| rs746107537 | 993 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs572668573 | 993 | R>W | No |
1000Genomes TOPMed gnomAD |
|
| rs1963679456 | 995 | G>C | No | Ensembl | |
| rs140680470 | 997 | A>S | No |
ESP ExAC gnomAD |
|
| rs140680470 | 997 | A>T | No |
ESP ExAC gnomAD |
|
| rs146841447 | 997 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1224715502 | 998 | Q>* | No | gnomAD | |
| rs2141998170 | 999 | S>R | No | Ensembl | |
|
COSM1740214 rs752213543 |
1001 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC |
| rs1963678970 | 1001 | Q>L | No | gnomAD | |
| rs764805079 | 1002 | Q>* | No | ExAC | |
| rs1335471018 | 1003 | I>L | No | gnomAD | |
| rs12900805 | 1005 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1963678380 | 1006 | E>* | No | gnomAD | |
| rs773260097 | 1006 | E>D | No | ExAC | |
| rs142488318 | 1007 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs769931246 | 1008 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs775366403 | 1008 | D>H | No |
ExAC TOPMed gnomAD |
|
|
COSM5182631 rs775366403 |
1008 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs775366403 | 1008 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs373550191 | 1009 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs373550191 | 1009 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs373550191 | 1009 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1181097058 | 1010 | L>M | No |
TOPMed gnomAD |
|
| rs1490408814 | 1010 | L>Q | No | gnomAD | |
|
rs757590116 COSM966356 COSM966355 |
1011 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747425807 COSM6035636 COSM6035637 |
1011 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs757590116 | 1011 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1487852454 | 1012 | Q>* | No | gnomAD | |
| rs1265391164 | 1013 | E>* | No | gnomAD | |
| rs778245883 | 1013 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs758762297 | 1014 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs753258346 | 1014 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs369139209 | 1015 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1286839357 | 1015 | D>N | No |
TOPMed gnomAD |
|
| rs184438388 | 1016 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1346364582 | 1016 | S>P | No | gnomAD | |
| rs147423714 | 1019 | K>N | No |
ExAC TOPMed gnomAD |
|
|
COSM3988205 COSM3988206 |
1019 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760531844 | 1019 | K>R | No |
ExAC TOPMed gnomAD |
|
|
COSM1375351 COSM1375350 rs1416932636 |
1021 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs761599017 | 1023 | E>* | No |
ExAC gnomAD |
|
| rs774368580 | 1023 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs761599017 | 1023 | E>K | No |
ExAC gnomAD |
|
| rs1459630310 | 1024 | I>T | No |
TOPMed gnomAD |
|
| rs1261726043 | 1025 | D>N | No | gnomAD | |
| rs866262325 | 1026 | G>D | No | gnomAD | |
| rs1466628518 | 1026 | G>S | No |
TOPMed gnomAD |
|
| rs867766839 | 1027 | K>N | No | Ensembl | |
| rs1963676043 | 1028 | L>M | No | Ensembl | |
| rs1208462065 | 1029 | R>K | No | gnomAD | |
| rs1296508158 | 1030 | Q>* | No |
TOPMed gnomAD |
|
| rs1257998547 | 1030 | Q>R | No | gnomAD | |
|
RCV001730455 rs1231255475 |
1031 | G>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1231255475 | 1031 | G>W | No |
TOPMed gnomAD |
|
| rs1415630733 | 1032 | S>I | No |
TOPMed gnomAD |
|
| rs771203785 | 1032 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1383905030 | 1033 | L>P | No | gnomAD | |
| rs1328455961 | 1035 | S>C | No |
TOPMed gnomAD |
|
| rs1328455961 | 1035 | S>F | No |
TOPMed gnomAD |
|
| rs778051667 | 1036 | P>L | No |
ExAC gnomAD |
|
| rs1407947785 | 1036 | P>S | No | gnomAD | |
| rs779514045 | 1037 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs140549999 | 1039 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs748595084 | 1040 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs748595084 | 1040 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs772293531 | 1040 | R>W | No |
ExAC gnomAD |
|
| rs1416633296 | 1041 | T>A | No | gnomAD | |
| rs2141996127 | 1042 | L>P | No | 1000Genomes | |
| rs1251233063 | 1044 | Q>R | No | gnomAD | |
| rs1963648903 | 1045 | L>F | No | gnomAD | |
| rs916572967 | 1045 | L>M | No |
TOPMed gnomAD |
|
| rs2141996088 | 1048 | A>D | No | Ensembl | |
| rs1287671158 | 1049 | I>M | No |
TOPMed gnomAD |
|
| rs1453358728 | 1049 | I>V | No | gnomAD | |
| rs983384787 | 1050 | E>K | No | Ensembl | |
| rs983384787 | 1050 | E>Q | No | Ensembl | |
| rs749819007 | 1052 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1596065715 | 1052 | L>R | No | Ensembl | |
| rs749819007 | 1052 | L>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1053 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1963648355 | 1055 | A>T | No | Ensembl | |
| rs1963648280 | 1056 | I>T | No | Ensembl | |
| rs1226243795 | 1057 | E>* | No | gnomAD | |
| rs779655277 | 1058 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1963647984 | 1059 | K>Q | No | TOPMed | |
| rs1213203111 | 1059 | K>R | No | Ensembl | |
| rs1438018558 | 1064 | T>A | No | gnomAD | |
| rs1347558209 | 1064 | T>I | No | gnomAD | |
| rs1405282773 | 1065 | C>S | No | gnomAD | |
| rs756984615 | 1065 | C>Y | No |
ExAC gnomAD |
|
| rs201342316 | 1067 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767837351 | 1068 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM1517874 rs1269830471 |
1070 | L>F | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs768917109 | 1071 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM4166381 COSM4166382 |
1073 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202129004 | 1074 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs149378390 | 1075 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963646421 | 1077 | L>P | No |
TOPMed gnomAD |
|
| rs1366514608 | 1077 | L>V | No |
TOPMed gnomAD |
|
| rs780698440 | 1078 | S>C | No |
ExAC gnomAD |
|
|
rs1963646325 RCV001723341 |
1079 | Q>* | No |
ClinVar TOPMed dbSNP |
|
| rs1388289752 | 1080 | C>Y | No | gnomAD | |
| rs1416370668 | 1081 | E>K | No |
TOPMed gnomAD |
|
| rs1416370668 | 1081 | E>Q | No |
TOPMed gnomAD |
|
| rs1020101136 | 1085 | M>I | No | gnomAD | |
| rs1344802464 | 1085 | M>R | No | TOPMed | |
| rs1344802464 | 1085 | M>T | No | TOPMed | |
| rs758215908 | 1086 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs758215908 | 1086 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs765207161 | 1088 | L>F | No |
ExAC gnomAD |
|
| rs765207161 | 1088 | L>V | No |
ExAC gnomAD |
|
| rs1029711579 | 1089 | S>C | No | TOPMed | |
| rs1211868447 | 1090 | Y>S | No | gnomAD | |
| rs767497946 | 1091 | L>R | No |
ExAC gnomAD |
|
|
RCV001560247 rs762038154 |
1093 | S>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM1478462 COSM1478463 |
1094 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367627150 | 1095 | E>G | No | ESP | |
| rs1567057796 | 1096 | T>A | No | TOPMed | |
| rs1567057796 | 1096 | T>S | No | TOPMed | |
|
COSM966353 COSM966354 |
1097 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1963644831 | 1097 | R>K | No | Ensembl | |
| rs764513802 | 1098 | A>V | No |
ExAC gnomAD |
|
| rs1450512577 | 1099 | L>F | No | gnomAD | |
| rs1450512577 | 1099 | L>V | No | gnomAD | |
| rs1963644590 | 1100 | L>I | No | TOPMed | |
| rs372699643 | 1101 | C>R | No |
ESP ExAC gnomAD |
|
| rs1175568695 | 1101 | C>Y | No | gnomAD | |
| rs1567057788 | 1102 | K>Q | No | TOPMed | |
| rs745367865 | 1102 | K>T | No |
ExAC gnomAD |
|
|
rs899831488 RCV002223652 |
1103 | Y>* | No |
ClinVar Ensembl dbSNP |
|
| rs530364548 | 1105 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs1963644226 | 1106 | K>* | No | TOPMed | |
| rs1174106948 | 1108 | V>L | No | TOPMed | |
| rs751651054 | 1110 | L>F | No |
ExAC gnomAD |
|
| rs764446094 | 1110 | L>P | No | Ensembl | |
| rs752985477 | 1111 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs752985477 | 1111 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1963625659 | 1113 | E>D | No | gnomAD | |
| rs1336673147 | 1113 | E>K | No | Ensembl | |
| TCGA novel | 1114 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371926812 | 1114 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs371926812 | 1114 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1159587241 | 1116 | Q>* | No | gnomAD | |
| rs1963625312 | 1116 | Q>L | No | gnomAD | |
| rs1963625255 | 1117 | Q>L | No | Ensembl | |
| rs1409339522 | 1118 | Q>E | No | gnomAD | |
|
COSM416770 COSM416771 |
1118 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344703606 | 1119 | I>M | No | TOPMed | |
| rs1433273605 | 1120 | A>D | No |
TOPMed gnomAD |
|
| rs1433273605 | 1120 | A>V | No |
TOPMed gnomAD |
|
| rs1567057391 | 1121 | F>V | No | Ensembl | |
| rs202195179 | 1122 | S>* | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM261686 COSM261687 |
1123 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1272984854 | 1124 | L>M | No | gnomAD | |
| rs2141994279 | 1125 | E>G | No | Ensembl | |
| rs774024440 | 1127 | Q>* | No |
ExAC gnomAD |
|
| rs774024440 | 1127 | Q>E | No |
ExAC gnomAD |
|
| rs768466946 | 1127 | Q>R | No |
ExAC gnomAD |
|
| rs2141994262 | 1128 | L>R | No | Ensembl | |
| rs1303482997 | 1131 | Q>E | No |
TOPMed gnomAD |
|
|
RCV001761099 rs1303482997 |
1131 | Q>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
CA393755609 RCV000520855 rs1555423120 |
1132 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs749087784 | 1133 | R>T | No |
ExAC gnomAD |
|
| rs775486378 | 1135 | V>G | No |
ExAC gnomAD |
|
| rs769690192 | 1136 | Y>C | No |
ExAC gnomAD |
|
|
RCV000597071 CA7727717 rs745809521 |
1137 | W>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1596064953 | 1138 | L>R | No | Ensembl | |
| rs543741055 | 1139 | E>G | No |
ExAC gnomAD |
|
| rs1477563317 | 1139 | E>Q | No |
TOPMed gnomAD |
|
| rs748345387 | 1140 | V>G | No |
ExAC gnomAD |
|
| rs1596064938 | 1141 | A>P | No | Ensembl | |
| rs1432047844 | 1141 | A>V | No |
TOPMed gnomAD |
|
|
rs1963623133 COSM6078058 COSM556339 |
1142 | L>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1963623086 | 1142 | L>R | No | TOPMed | |
| rs571807299 | 1144 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1204832680 | 1145 | Q>* | No |
TOPMed gnomAD |
|
| rs766975299 | 1146 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761352990 | 1146 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs766975299 | 1146 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1963622385 | 1148 | E>V | No | gnomAD | |
| rs762806411 | 1149 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1040193906 | 1149 | M>T | No | TOPMed | |
|
RCV000995423 rs762806411 |
1149 | M>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1596064904 | 1150 | D>A | No | Ensembl | |
|
COSM6143164 COSM6143163 |
1150 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1963622039 | 1150 | D>N | No | Ensembl | |
| rs900395454 | 1151 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs547004343 | 1155 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1963621599 | 1157 | Q>* | No | TOPMed | |
| rs748294001 | 1158 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs534969844 | 1158 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs1197021431 | 1159 | E>A | No |
TOPMed gnomAD |
|
| rs755087413 | 1160 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1472890666 | 1160 | H>Y | No |
TOPMed gnomAD |
|
| rs1963621007 | 1162 | Q>* | No | TOPMed | |
| rs750898883 | 1164 | M>T | No |
ExAC TOPMed |
|
| rs768061319 | 1165 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1963620600 | 1166 | L>V | No | TOPMed | |
| rs1258546963 | 1167 | L>F | No | gnomAD | |
| rs930016023 | 1168 | L>P | No | Ensembl | |
|
rs1963620354 RCV001355833 |
1169 | Q>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs2141993907 RCV001822122 |
1170 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs138196132 | 1172 | R>* | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs138196132 | 1172 | R>G | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs1275424943 | 1172 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1963619884 | 1173 | D>H | No | TOPMed | |
| rs1963606213 | 1174 | H>R | No | TOPMed | |
| rs1274899790 | 1175 | L>I | No | gnomAD | |
| rs76346806 | 1176 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs997256398 | 1176 | G>D | No | Ensembl | |
| rs76346806 | 1176 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs997256398 | 1176 | G>V | No | Ensembl | |
| rs753565474 | 1177 | E>D | No |
ExAC gnomAD |
|
| rs760557998 | 1181 | D>E | No | ExAC | |
| rs750306469 | 1182 | S>R | No |
ExAC gnomAD |
|
| rs1161738369 | 1183 | R>K | No |
TOPMed gnomAD |
|
| rs1399165027 | 1183 | R>S | No | gnomAD | |
| rs1244933963 | 1185 | Q>H | No | gnomAD | |
| rs767550455 | 1185 | Q>K | No |
ExAC gnomAD |
|
| rs762939772 | 1186 | Y>F | No |
ExAC gnomAD |
|
| rs759709247 | 1189 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs759709247 | 1189 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1336053928 | 1191 | Q>E | No | TOPMed | |
| rs776873744 | 1191 | Q>R | No |
ExAC gnomAD |
|
| rs771258913 | 1192 | A>G | No |
ExAC gnomAD |
|
| rs542602146 | 1193 | L>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772561330 | 1195 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs772561330 | 1195 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs887714385 | 1198 | G>D | No | Ensembl | |
| rs778515321 | 1198 | G>R | No |
ExAC gnomAD |
|
| rs748917501 | 1199 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs779900744 | 1199 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs755847868 | 1200 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs754566088 | 1200 | Y>* | No | ExAC | |
| rs140710600 | 1201 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141992639 | 1201 | M>V | No | Ensembl | |
| rs1567056923 | 1202 | W>R | No | TOPMed | |
| rs918639337 | 1204 | N>K | No | gnomAD | |
| rs767222111 | 1206 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs767222111 | 1206 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1963602913 | 1210 | K>N | No | gnomAD | |
| rs765264293 | 1211 | L>R | No |
ExAC gnomAD |
|
| rs776816025 | 1212 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs776816025 | 1212 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs143316368 | 1213 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143316368 | 1213 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs773564872 | 1214 | V>L | No |
ExAC gnomAD |
|
| rs773564872 | 1214 | V>M | No |
ExAC gnomAD |
|
| rs1300396333 | 1215 | N>I | No | gnomAD | |
| rs1300396333 | 1215 | N>S | No | gnomAD | |
| rs538364112 | 1217 | V>L | No | Ensembl | |
| TCGA novel | 1219 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1963601957 | 1219 | H>R | No | TOPMed | |
| rs1391595744 | 1219 | H>Y | No |
TOPMed gnomAD |
|
|
rs768259676 TCGA novel |
1221 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs1373758464 | 1221 | R>T | No |
TOPMed gnomAD |
|
| rs748866222 | 1222 | G>C | No |
1000Genomes ExAC |
|
| rs2141992009 | 1222 | G>D | No | Ensembl | |
| rs748866222 | 1222 | G>S | No |
1000Genomes ExAC |
|
| rs2141991999 | 1223 | G>E | No | Ensembl | |
| rs1253883409 | 1223 | G>W | No | TOPMed | |
|
rs2141991987 RCV001806614 |
1224 | E>missing | No |
ClinVar dbSNP |
|
| rs1963596159 | 1224 | E>G | No | gnomAD | |
| rs770740912 | 1224 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1963596057 | 1225 | K>E | No | gnomAD | |
| rs551619127 | 1226 | R>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1331387786 | 1228 | L>Q | No | gnomAD | |
| rs780139363 | 1230 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs780139363 | 1230 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs780139363 | 1230 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1327979036 | 1232 | G>D | No |
TOPMed gnomAD |
|
| rs750635928 | 1233 | R>I | No |
ExAC TOPMed gnomAD |
|
| rs1438460995 | 1234 | Q>E | No | gnomAD | |
| rs767690124 | 1235 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs763506306 | 1238 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs371960047 | 1238 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1963594820 | 1239 | E>G | No | Ensembl | |
| rs1426497099 | 1241 | E>Q | No |
TOPMed gnomAD |
|
| rs1467465513 | 1243 | H>N | No | gnomAD | |
| rs1596064063 | 1243 | H>P | No | Ensembl | |
| rs1596064061 | 1244 | L>R | No | Ensembl | |
| TCGA novel | 1245 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1245 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1486955587 | 1245 | A>V | No | gnomAD | |
| rs374693639 | 1246 | P>S | No |
ESP ExAC gnomAD |
|
| rs771882581 | 1247 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs149883801 | 1247 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs201519024 | 1248 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778763577 | 1248 | L>H | No |
ExAC gnomAD |
|
| rs201519024 | 1248 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746002125 | 1249 | L>F | No |
ExAC gnomAD |
|
| rs746002125 | 1249 | L>I | No |
ExAC gnomAD |
|
| rs1425603781 | 1249 | L>P | No | Ensembl | |
| rs781336592 | 1250 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs1963593578 | 1250 | W>R | No | TOPMed | |
| rs1963593469 | 1251 | L>P | No | Ensembl | |
| rs546772749 | 1252 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1596064027 | 1252 | S>P | No | Ensembl | |
| rs546772749 | 1252 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1378851545 | 1253 | P>A | No | gnomAD | |
| rs371645372 | 1253 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371645372 | 1253 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1378851545 | 1253 | P>S | No | gnomAD | |
| rs528407611 | 1254 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs528407611 | 1254 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759086470 | 1254 | L>P | No | ExAC | |
| rs747131428 | 1254 | L>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs528407611 | 1254 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1297493558 | 1255 | T>I | No | TOPMed | |
| rs775942651 | 1255 | T>P | No |
ExAC gnomAD |
|
| rs1189649262 | 1256 | E>D | No | gnomAD | |
| rs1307825021 | 1256 | E>K | No |
TOPMed gnomAD |
|
| rs1307825021 | 1256 | E>Q | No |
TOPMed gnomAD |
|
| rs1596063991 | 1256 | E>G | No | Ensembl | |
| rs1208922826 | 1257 | G>E | No |
TOPMed gnomAD |
|
| rs1208922826 | 1257 | G>V | No |
TOPMed gnomAD |
|
| rs367833833 | 1258 | A>D | No |
ESP TOPMed gnomAD |
|
| rs367833833 | 1258 | A>G | No |
ESP TOPMed gnomAD |
|
| rs1567056640 | 1258 | A>P | No | Ensembl | |
| rs770804978 | 1258 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567056640 | 1258 | A>S | No | Ensembl | |
| rs1567056640 | 1258 | A>T | No | Ensembl | |
| rs367833833 | 1258 | A>V | No |
ESP TOPMed gnomAD |
|
| rs765893045 | 1259 | P>H | No |
ExAC gnomAD |
|
| rs1347265316 | 1259 | P>T | No |
TOPMed gnomAD |
|
|
COSM1375348 COSM1375349 |
1260 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs140562404 | 1260 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1555423001 | 1260 | R>H | No | Ensembl | |
| rs777426943 | 1260 | R>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1282537053 | 1261 | T>P | No | gnomAD | |
| rs561205514 | 1262 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs768543012 | 1263 | E>G | No |
ExAC gnomAD |
|
|
COSM6001590 rs747632760 COSM6001591 |
1265 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs747263865 | 1266 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1596063919 | 1267 | D>A | No | Ensembl | |
| rs371596537 | 1267 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs752933212 | 1269 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs752933212 | 1269 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs1963589974 | 1269 | V>I | No | TOPMed | |
| rs1185925641 | 1273 | L>F | No | gnomAD | |
| rs767091542 | 1274 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs767091542 | 1274 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs774071217 | 1276 | T>I | No |
ExAC gnomAD |
|
| rs866142810 | 1278 | K>E | No | Ensembl | |
| rs1963588871 | 1279 | R>H | No | Ensembl | |
| rs775526351 | 1280 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1963588678 | 1281 | S>R | No | Ensembl | |
| rs778142943 | 1282 | L>R | No |
ExAC gnomAD |
|
| rs544791294 | 1284 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755333464 | 1285 | E>* | No |
ExAC gnomAD |
|
| rs754326027 | 1285 | E>G | No |
ExAC gnomAD |
|
| rs755333464 | 1285 | E>K | No |
ExAC gnomAD |
|
| rs754326027 | 1285 | E>V | No |
ExAC gnomAD |
|
| rs1481067037 | 1288 | G>E | No |
TOPMed gnomAD |
|
| rs1167726963 | 1288 | G>W | No | gnomAD | |
| rs750002097 | 1289 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs763825284 | 1291 | E>D | No |
ExAC gnomAD |
|
| rs751191936 | 1291 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1286920618 | 1292 | E>V | No |
TOPMed gnomAD |
|
| rs775579416 | 1293 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1963587356 | 1295 | Q>K | No | gnomAD | |
| rs201363681 | 1296 | R>Q | No |
TOPMed gnomAD |
|
|
COSM272868 rs769783876 COSM272869 |
1296 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs868862477 | 1299 | A>T | No | gnomAD | |
| rs768917178 | 1301 | P>R | No |
ExAC gnomAD |
|
| rs779149527 | 1301 | P>T | No |
ExAC gnomAD |
|
| rs756672880 | 1303 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs750907041 | 1304 | G>E | No | ExAC | |
| TCGA novel | 1304 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756750505 | 1305 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs756750505 | 1305 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1596063809 | 1306 | V>G | No | Ensembl | |
| rs1963585906 | 1306 | V>L | No | Ensembl | |
| rs1567056450 | 1307 | L>F | No | Ensembl | |
| rs1199407709 | 1308 | P>L | No | gnomAD | |
| rs1963585648 | 1309 | V>A | No | TOPMed | |
| rs1963585506 | 1310 | G>V | No |
TOPMed gnomAD |
|
| rs752603278 | 1311 | E>A | No |
ExAC gnomAD |
|
| TCGA novel | 1311 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141991072 | 1312 | A>V | No | Ensembl | |
| rs759591288 | 1313 | G>A | No |
ExAC TOPMed gnomAD |
|
|
RCV001766869 rs759591288 |
1313 | G>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1212738375 | 1313 | G>S | No | gnomAD | |
| rs150248985 | 1315 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs149448369 | 1315 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel rs2141991025 |
1316 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1367281895 | 1317 | N>K | No | TOPMed | |
| rs774442900 | 1317 | N>T | No |
ExAC gnomAD |
|
| rs768990207 | 1318 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs749499441 | 1319 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs775882284 | 1320 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1301660180 | 1320 | P>S | No |
TOPMed gnomAD |
|
| rs1301660180 | 1320 | P>T | No |
TOPMed gnomAD |
|
| rs1163281822 | 1322 | S>C | No |
TOPMed gnomAD |
|
| rs1163281822 | 1322 | S>F | No |
TOPMed gnomAD |
|
| rs143516080 | 1323 | K>E | No |
ESP TOPMed |
|
| rs1174249428 | 1323 | K>N | No | gnomAD | |
| TCGA novel | 1324 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs73477443 | 1325 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1176466407 | 1328 | L>R | No |
TOPMed gnomAD |
|
| rs147772494 | 1329 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1717009 rs147772494 |
1329 | R>G | NS [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs202214398 | 1329 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs202214398 | 1329 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs370123540 COSM702176 COSM702177 |
1330 | R>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs370123540 | 1330 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4837367 COSM4837368 |
1330 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775649452 | 1331 | A>T | No |
ExAC gnomAD |
|
| rs1363015734 | 1331 | A>V | No |
TOPMed gnomAD |
|
| rs1329426953 | 1332 | S>G | No | TOPMed | |
| rs1963582319 | 1332 | S>N | No |
TOPMed gnomAD |
|
| rs770165381 | 1332 | S>R | No |
ExAC gnomAD |
|
| rs145726393 | 1333 | P>L | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs145726393 | 1333 | P>R | Acrocallosal syndrome (acls) [Ensembl] | No |
1000Genomes ESP ExAC TOPMed gnomAD |
| rs1963581659 | 1334 | G>A | No | gnomAD | |
| rs1271173524 | 1334 | G>R | No |
TOPMed gnomAD |
|
| rs1373573111 | 1335 | M>I | No | gnomAD | |
| rs1963581263 | 1337 | D>E | No | TOPMed | |
| rs777387974 | 1337 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs777387974 | 1337 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs747829509 | 1339 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs778654148 | 1340 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1314442090 | 1341 | N>K | No | gnomAD | |
| rs199526156 | 1341 | N>T | No | gnomAD | |
| rs757991046 | 1342 | P>H | No |
ExAC gnomAD |
|
| rs757991046 | 1342 | P>R | No |
ExAC gnomAD |
|
| rs1196224413 | 1342 | P>S | No |
TOPMed gnomAD |
|
| rs1210799751 | 1343 | L>P | No |
TOPMed gnomAD |
|
| rs1210799751 | 1343 | L>R | No |
TOPMed gnomAD |
|
| rs1278824560 | 1343 | L>V | No | gnomAD |
6 associated diseases with Q2M1P5
[MIM: 209900]: Bardet-Biedl syndrome (BBS)
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. . Note=The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
[MIM: 614120]: Hydrolethalus syndrome 2 (HLS2)
An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 200990]: Acrocallosal syndrome (ACLS)
An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 200990]: Joubert syndrome 12 (JBTS12)
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. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 607131]: Al-Gazali-Bakalinova syndrome (AGBK)
An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- 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. . Note=The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
- An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability. . Note=The disease is caused by variants affecting the gene represented in this entry.
- 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. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47969 | CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED |
| PANTHER Subfamily | PTHR47969:SF8 | KINESIN FAMILY MEMBER 7 |
| PANTHER Protein Class |
cytoskeletal protein
microtubule binding motor protein microtubule or microtubule-binding cytoskeletal protein |
|
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 tip | Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| positive regulation of smoothened signaling pathway | Any process that activates or increases the frequency, rate or extent of smoothened signaling. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95239 | KIF4A | Chromosome-associated kinesin KIF4A | Homo sapiens (Human) | SS |
| Q2VIQ3 | KIF4B | Chromosome-associated kinesin KIF4B | Homo sapiens (Human) | SS |
| P33176 | KIF5B | Kinesin-1 heavy chain | Homo sapiens (Human) | EV |
| O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
| Q12840 | KIF5A | Kinesin heavy chain isoform 5A | Homo sapiens (Human) | EV |
| O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
| Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
| Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
| O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
| Q9P2E2 | KIF17 | Kinesin-like protein KIF17 | Homo sapiens (Human) | EV |
| O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
| Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
| Q9H1H9 | KIF13A | Kinesin-like protein KIF13A | Homo sapiens (Human) | SS |
| Q9QXL1 | Kif21b | Kinesin-like protein KIF21B | Mus musculus (Mouse) | SS |
| Q9QXL2 | Kif21a | Kinesin-like protein KIF21A | Mus musculus (Mouse) | EV SS |
| Q7M6Z4 | Kif27 | Kinesin-like protein KIF27 | Mus musculus (Mouse) | SS |
| B7ZNG0 | Kif7 | Kinesin-like protein KIF7 | Mus musculus (Mouse) | SS |
| F1M5N7 | Kif21b | Kinesin-like protein KIF21B | Rattus norvegicus (Rat) | SS |
| Q7M6Z5 | Kif27 | Kinesin-like protein KIF27 | Rattus norvegicus (Rat) | SS |
| Q58G59 | kif7 | Kinesin-like protein kif7 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLEAQRLPG | AEEAPVRVAL | RVRPLLPKEL | LHGHQSCLQV | EPGLGRVTLG | RDRHFGFHVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAEDAGQEAV | YQACVQPLLE | AFFEGFNATV | FAYGQTGSGK | TYTMGEASVA | SLLEDEQGIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRAMAEAFKL | IDENDLLDCL | VHVSYLEVYK | EEFRDLLEVG | TASRDIQLRE | DERGNVVLCG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKEVDVEGLD | EVLSLLEMGN | AARHTGATHL | NHLSSRSHTV | FTVTLEQRGR | APSRLPRPAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQLLVSKFHF | VDLAGSERVL | KTGSTGERLK | ESIQINSSLL | ALGNVISALG | DPQRRGSHIP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YRDSKITRIL | KDSLGGNAKT | VMIACVSPSS | SDFDETLNTL | NYASRAQNIR | NRATVNWRPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AERPPEETAS | GARGPPRHRS | ETRIIHRGRR | APGPATASAA | AAMRLGAECA | RYRACTDAAY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLLRELQAEP | GLPGAAARKV | RDWLCAVEGE | RSALSSASGP | DSGIESASVE | DQAAQGAGGR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KEDEGAQQLL | TLQNQVARLE | EENRDFLAAL | EDAMEQYKLQ | SDRLREQQEE | MVELRLRLEL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VRPGWGGPRL | LNGLPPGSFV | PRPHTAPLGG | AHAHVLGMVP | PACLPGDEVG | SEQRGEQVTN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GREAGAELLT | EVNRLGSGSS | AASEEEEEEE | EPPRRTLHLR | RNRISNCSQR | AGARPGSLPE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RKGPELCLEE | LDAAIPGSRA | VGGSKARVQA | RQVPPATASE | WRLAQAQQKI | RELAINIRMK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EELIGELVRT | GKAAQALNRQ | HSQRIRELEQ | EAEQVRAELS | EGQRQLRELE | GKELQDAGER |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SRLQEFRRRV | AAAQSQVQVL | KEKKQATERL | VSLSAQSEKR | LQELERNVQL | MRQQQGQLQR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RLREETEQKR | RLEAEMSKRQ | HRVKELELKH | EQQQKILKIK | TEEIAAFQRK | RRSGSNGSVV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SLEQQQKIEE | QKKWLDQEME | KVLQQRRALE | ELGEELHKRE | AILAKKEALM | QEKTGLESKR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LRSSQALNED | IVRVSSRLEH | LEKELSEKSG | QLRQGSAQSQ | QQIRGEIDSL | RQEKDSLLKQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| RLEIDGKLRQ | GSLLSPEEER | TLFQLDEAIE | ALDAAIEYKN | EAITCRQRVL | RASASLLSQC |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EMNLMAKLSY | LSSSETRALL | CKYFDKVVTL | REEQHQQQIA | FSELEMQLEE | QQRLVYWLEV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ALERQRLEMD | RQLTLQQKEH | EQNMQLLLQQ | SRDHLGEGLA | DSRRQYEARI | QALEKELGRY |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MWINQELKQK | LGGVNAVGHS | RGGEKRSLCS | EGRQAPGNED | ELHLAPELLW | LSPLTEGAPR |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TREETRDLVH | APLPLTWKRS | SLCGEEQGSP | EELRQREAAE | PLVGRVLPVG | EAGLPWNFGP |
| 1330 | 1340 | ||||
| LSKPRRELRR | ASPGMIDVRK | NPL |