O95255
PR
Gene name |
ABCC6 (ARA, MRP6) |
Protein name |
ATP-binding cassette sub-family C member 6 |
Names |
Anthracycline resistance-associated protein, Multi-specific organic anion transporter E, MOAT-E, Multidrug resistance-associated protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:368 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for O95255
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6BZR | X-ray | 280 A | A/B | 1254-1503 | PDB |
| 6BZS | X-ray | 230 A | A | 622-859 | PDB |
| 6NLO | X-ray | 285 A | A | 622-859 | PDB |
| 6P7F | X-ray | 285 A | A | 1254-1503 | PDB |
| AF-O95255-F1 | Predicted | AlphaFoldDB |
1594 variants for O95255
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_072803 rs1555523872 CA395202972 RCV000499058 |
4 | P>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_072804 rs1555523855 CA395202916 RCV000499275 |
9 | A>E | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555523535 RCV000499357 CA395202720 |
16 | Q>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1235912910 VAR_072805 RCV000499349 CA395202661 |
21 | P>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000499135 rs72664223 |
37 | V>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001577317 CA7926718 rs72653752 RCV000499269 |
38 | W>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778544828 RCV000499140 CA395202523 |
40 | P>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002475997 CA279014406 rs940803158 RCV000499271 |
44 | L>V | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555523438 RCV000499336 |
60 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499141 rs1555523429 |
60 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499101 rs74315110 RCV001561269 |
60 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_013363 | 60 | R>del | PXE; autosomal recessive [UniProt] | Yes | UniProt |
|
VAR_013364 rs72657696 RCV000499021 CA279014404 |
61 | G>D | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002496931 rs777566074 VAR_072806 COSM1243984 RCV000499118 CA7926690 |
64 | R>Q | oesophagus Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_067840 rs72664225 |
74 | V>missing | PXE [UniProt] | Yes |
UniProt dbSNP |
|
VAR_067840 rs72664225 |
74 | V>del | PXE [UniProt] | Yes |
UniProt dbSNP |
|
rs2856597 RCV000499196 CA278671597 VAR_067841 RCV002475996 |
78 | A>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
CA278671548 VAR_072807 RCV000499024 rs957828732 |
90 | A>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000499149 rs1555522997 |
94 | I>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1002088882 CA278671540 RCV000499345 |
111 | W>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555522983 RCV000499184 |
112 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499167 CA394893344 rs879956688 |
125 | E>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000499366 rs879956688 RCV002475990 CA278671493 VAR_067842 |
125 | E>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; loss-of-function variant; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_067843 CA278671489 RCV000499249 rs72653753 |
129 | G>E | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000023281 rs387906860 |
151 | A>missing | Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394893141 CA394893140 rs1209940471 RCV002486341 RCV001335748 |
157 | G>R | Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV002496915 rs2606921 VAR_067844 CA7926646 RCV000499049 RCV001672806 |
158 | A>V | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000892695 RCV002253415 RCV002253416 rs192110266 RCV000499083 RCV000437196 CA7926629 |
163 | D>N | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7926628 RCV000413335 rs201766106 RCV000499286 |
166 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002489185 rs561266462 CA16621689 RCV000487516 |
187 | A>V | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000499106 CA394892016 rs1474063386 |
199 | Q>* | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA278669361 rs72657697 RCV000499324 VAR_013366 |
207 | G>R | Variant assessed as Somatic; impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs72653754 RCV000499170 CA278669355 |
218 | W>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499280 CA278668692 rs72653755 |
226 | G>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1315925055 RCV000499342 CA394891532 |
227 | Y>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1343632105 RCV000499288 |
237 | W>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499301 CA394891464 rs763591743 |
238 | S>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA278668677 RCV000499079 rs72650697 COSM967569 |
242 | E>* | Variant assessed as Somatic; impact. endometrium Pseudoxanthoma elasticum [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002291274 RCV000300804 RCV000499195 CA7926582 rs72653756 |
248 | L>F | ABCC6-related disorder Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV002505751 rs199645691 CA7926579 RCV001172098 |
251 | R>W | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7926577 rs72653757 RCV000419346 RCV000499344 |
252 | L>F | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555520136 CA394891360 RCV000499265 |
256 | W>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72657698 CA232837 VAR_013367 RCV002253237 RCV002492516 RCV002253238 RCV001528636 RCV000132642 RCV000191056 |
265 | R>G | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499224 CA7926531 rs879274205 RCV000425196 VAR_013368 |
281 | K>E | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs74315139 RCV000499112 |
289 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499225 rs72664216 |
315 | T>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7926510 RCV000499223 RCV000499187 VAR_067845 rs78678589 CA278667021 |
317 | S>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
CA7926509 rs72657699 RCV002253445 VAR_013369 RCV000499138 RCV000952745 RCV002253446 |
319 | I>V | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499253 rs72664226 |
321 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499350 rs1555518824 |
321 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000996234 RCV002479175 CA7926474 rs372132926 |
354 | V>M | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7926473 rs72653758 VAR_067846 RCV000499048 |
355 | L>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) GACI2 and PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000499036 rs387906353 |
363 | Q>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499276 rs72650698 CA278666412 RCV002506210 |
363 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_067847 | 363 | Q>del | PXE [UniProt] | Yes | UniProt |
|
RCV000499010 RCV001782996 VAR_013370 CA7926468 RCV002496916 rs72653759 |
364 | T>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7926465 rs72653760 RCV001198805 VAR_067848 RCV000499173 |
370 | N>D | Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481268 rs72650699 CA7926457 RCV000413373 RCV000499037 |
378 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499016 CA394890562 rs1555518390 |
378 | Q>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499311 CA7926454 VAR_067849 rs72653761 RCV002496917 |
382 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA7926447 VAR_067850 RCV000455861 RCV000256117 rs72653762 RCV002288946 RCV000499064 |
391 | R>G | Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) GACI2 and PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA278666293 RCV000499204 CA7926444 rs72653763 VAR_067851 |
392 | K>N | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000499314 CA278664274 VAR_067852 rs72653764 |
398 | S>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA7926411 rs376518465 RCV000499316 CA394890431 |
398 | S>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs368723482 RCV001325964 CA7926409 RCV002546150 |
399 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7926408 rs747386965 RCV001857038 RCV000499233 RCV002481595 |
400 | S>F | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001331786 CA278664241 rs115663615 RCV002499653 |
405 | A>V | Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA278664198 RCV000499071 VAR_013371 rs9930886 |
411 | N>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499229 CA278664165 rs72653765 |
415 | V>A | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772434460 VAR_072808 RCV000499218 RCV000492873 CA7926390 RCV002496898 |
419 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001865579 CA7926389 RCV000499368 RCV002481596 rs746428588 |
420 | L>V | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002501420 CA7926371 RCV000885893 rs542502733 |
438 | V>M | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001865577 rs72653766 VAR_067854 RCV000499143 CA278663970 |
440 | C>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_013372 CA278659980 RCV000499214 rs67996819 |
455 | A>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA278659952 rs72653767 RCV000499132 RCV002524112 VAR_067855 |
463 | L>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555515781 CA394890029 RCV000499259 |
466 | N>Y | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596687174 RCV001002850 |
473 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7926314 RCV000765256 RCV000513133 rs151187637 RCV000502001 |
475 | H>L | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7926292 rs72653768 RCV000499102 |
487 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs754360599 RCV000499078 CA7926291 RCV002524121 |
489 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_067856 RCV000499258 rs72653769 RCV002524111 CA7926287 |
495 | L>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_013373 CA278658052 rs72653770 RCV001865578 RCV000499014 |
497 | N>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000499011 rs1555514945 CA394889790 |
500 | T>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499127 CA278658031 rs72653771 |
502 | K>M | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555514927 RCV000499207 |
507 | E>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394889746 rs368017088 RCV000499114 |
507 | E>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs779408186 CA7926276 RCV000996233 RCV000499186 |
509 | A>G | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001475971 CA7926273 RCV002496919 VAR_067857 rs59157279 RCV000499243 |
514 | V>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000429924 RCV000191057 RCV000023280 RCV000023279 RCV002477007 CA129124 rs72650700 |
518 | R>* | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7926272 RCV000255202 RCV000499158 RCV000763364 VAR_013374 rs72653772 |
518 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555514899 RCV000499124 CA394889660 |
521 | E>D | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394889655 RCV000499221 rs1555514895 RCV002475999 |
522 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72664217 RCV000499310 |
526 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774648925 CA7926260 RCV000499121 |
530 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000499042 VAR_067858 rs72653773 CA278657873 |
535 | S>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000989541 rs1596678798 RCV002549728 |
537 | V>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067859 rs72653774 RCV002475991 RCV000499160 CA278657033 |
551 | F>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002524119 rs1313008538 RCV000499256 RCV002490821 |
559 | E>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA278656994 RCV002481594 rs72653775 RCV000499317 |
562 | M>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs66864704 RCV001857037 VAR_013375 RCV000499069 CA7926198 |
568 | F>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499151 rs1555514467 |
571 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555514439 RCV000499116 |
578 | N>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002505116 CA232831 RCV000132639 rs527236047 |
587 | S>C | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs537233133 VAR_067860 CA7926184 |
590 | S>F | GACI2 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
VAR_067861 RCV000499358 rs72653776 CA278651863 |
594 | A>V | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000499295 VAR_067862 rs72653777 CA7926154 RCV001851389 |
600 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA394889174 RCV000499237 rs761433545 |
600 | R>L | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768271196 VAR_072809 RCV000499306 CA7926150 |
605 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PEX; uncertain pathological significance; mutant protein is retained in the cytoplasm [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002253464 CA7926143 RCV002253465 VAR_011490 RCV000499100 rs12931472 RCV001520636 |
614 | V>A | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499213 rs72664218 |
620 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001549191 RCV000499054 VAR_013376 rs8058694 RCV001549192 RCV001520634 CA7926111 |
632 | H>Q | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499104 rs1555513604 CA394888955 |
634 | A>V | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499217 CA278648350 rs72653779 |
655 | Q>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499245 rs74315130 |
656 | G>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555513222 RCV000499067 |
660 | A>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067863 CA7926063 rs72653780 RCV000499137 |
663 | G>C | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs72653780 RCV001865584 CA7926064 RCV000499146 |
663 | G>S | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000584977 rs59002125 CA7926062 RCV002496920 RCV000499369 |
664 | P>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499045 CA278648313 rs72653781 |
666 | G>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72664227 RCV002222535 RCV001535944 RCV000499162 |
667 | A>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_013377 RCV000499274 RCV000444456 CA7926056 rs67470842 |
673 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA278648260 RCV000499026 VAR_067864 rs72653782 |
677 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000585451 RCV002227186 rs368806440 CA7926042 RCV002483559 |
687 | V>M | Stroke Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA278647976 VAR_067865 RCV000499189 rs72653783 |
698 | Q>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; does not change protein biosynthesis and folding [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_067866 rs72653784 RCV000499298 CA278647972 RCV001197941 RCV001857039 |
699 | E>D | Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) PXE; does not change protein biosynthesis and folding [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs114303883 CA394888480 RCV000499175 |
709 | E>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555513103 CA394888478 VAR_072810 RCV000499125 |
709 | E>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs114303883 CA7926005 RCV000499096 RCV001305379 |
709 | E>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7926002 rs140013237 RCV002481777 RCV000996232 |
712 | C>R | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1357894483 RCV000499020 CA394888419 |
718 | D>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000499081 CA278647900 rs72650701 RCV001865580 RCV002481597 |
721 | W>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499075 rs1555513085 |
724 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001516647 RCV001701022 rs58073789 CA7925996 RCV002253468 RCV002253469 RCV000499147 VAR_067867 |
724 | R>K | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_067869 RCV000499059 rs72653785 CA278647884 |
726 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002253472 CA7925988 rs59593133 RCV002253473 RCV001700394 VAR_067870 RCV001514861 RCV000499220 |
742 | I>V | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394888251 RCV000499226 rs1555513073 RCV001755736 |
744 | T>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337200 rs769753486 CA7925985 RCV002486340 RCV001335744 |
746 | I>T | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000499343 CA278647831 rs66616070 |
749 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394888204 RCV001865576 RCV000499122 rs1192373126 |
750 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499091 CA278645448 RCV001857040 rs72653786 VAR_067871 |
751 | M>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA394888179 RCV001857036 RCV000499282 rs1555512484 |
753 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857041 rs72653787 RCV000499201 CA7925966 COSM3402110 VAR_067872 |
755 | G>R | Variant assessed as Somatic; 0.0 impact. central_nervous_system Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; does not change protein biosynthesis and folding [NCI-TCGA, Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769405586 RCV001857054 CA7925964 RCV000499052 |
760 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002475992 CA7925965 rs72653788 VAR_067873 RCV000499338 RCV001782997 |
760 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive; protein level is 15-20% that of the WT proteins; maturation of glycan chains is not affected indicating normal trafficking from the endoplasmic reticulum to the cell membrane [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA129120 rs67561842 RCV000023275 RCV001090336 RCV000023276 VAR_013378 |
765 | R>Q | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant and autosomal recessive; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA7925962 RCV000499165 RCV001857055 rs776513864 |
765 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA278645376 VAR_067874 RCV000499251 rs72653789 |
766 | A>D | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000499365 CA278645357 rs66492417 |
768 | Y>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499360 rs57794451 RCV001510973 RCV002496932 CA7925960 |
769 | R>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499119 rs72664229 |
775 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs72653790 CA278645338 RCV000499273 VAR_067875 |
777 | D>N | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; affects protein expression and trafficking; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001858710 rs1596649191 RCV000989540 RCV002479156 |
780 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001541119 RCV000499029 CA7925956 rs72653791 RCV002506211 |
781 | A>V | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000499188 CA278645265 rs72653792 |
787 | V>F | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000483030 RCV000991178 rs72653792 CA7925951 |
787 | V>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394887941 rs1555512420 RCV000499320 |
793 | N>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499200 rs1555512419 |
795 | V>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499098 RCV001857058 rs776463091 CA7925946 |
796 | I>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499030 rs72653793 CA394887855 |
807 | R>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000418691 RCV000499152 CA7925918 rs72653794 VAR_067876 |
807 | R>Q | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7925919 RCV000499031 rs72653793 RCV001851390 VAR_067877 |
807 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002481553 RCV000489525 RCV000499307 CA7925916 VAR_067878 rs72653795 |
810 | V>M | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive; protein level is 15-20% that of the WT proteins; maturation of glycan chains is not affected indicating normal trafficking from the endoplasmic reticulum to the cell membrane [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_067879 CA7925914 rs72653796 RCV001857042 RCV000499238 |
811 | T>M | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; protein level is 15-20% that of the WT proteins; maturation of glycan chains is not affected indicating normal trafficking from the endoplasmic reticulum to the cell membrane [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499278 rs72653796 CA7925915 |
811 | T>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_067880 rs72653797 RCV000499178 CA7925909 |
820 | A>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive; affects protein expression and trafficking [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001857043 CA7925906 RCV000499287 rs72653798 |
826 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394887718 rs1555512158 RCV000499241 |
830 | A>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527166 rs1355752953 RCV000499212 VAR_072811 CA394887692 |
834 | M>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs72650702 RCV000499063 CA278644264 |
837 | Y>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499293 CA278644238 rs72653703 |
842 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002486239 RCV001316102 rs201884545 CA7925889 |
844 | K>Q | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002496922 RCV000910604 RCV000499208 rs67867306 |
848 | M>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001584205 CA278644208 rs72653799 RCV000499332 |
851 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7925846 RCV001090335 rs377008733 RCV002505670 |
879 | A>T | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_067881 RCV000499228 rs72653800 CA7925845 |
881 | R>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001513801 RCV002490822 CA7925842 rs59206042 RCV000499339 |
887 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394886276 rs1481200467 RCV000499139 RCV002524122 CA394886274 |
893 | S>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
RCV002487931 RCV000881901 CA7925813 rs11861980 |
899 | R>C | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs60712230 RCV002253670 CA7925810 RCV002495374 RCV001701469 RCV002253668 RCV000888186 RCV002253669 |
903 | E>Q | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765405352 RCV003114625 RCV000499216 |
928 | G>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142470921 RCV002481534 CA7925796 RCV000481724 |
928 | G>S | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000273697 rs72653704 CA7925777 CA10605453 RCV000499126 |
938 | Y>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs72664219 RCV000499033 |
941 | A>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499107 VAR_067882 CA278636288 rs72653801 |
944 | T>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2047000316 RCV001196265 |
946 | L>missing | Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499169 rs74315152 |
946 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001520633 RCV002253478 CA7925770 VAR_067883 rs61340537 RCV002496923 RCV002253479 RCV000611745 RCV000499017 |
946 | L>I | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_072812 RCV000499353 rs1555510407 CA394884914 |
948 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA7925767 VAR_067884 RCV002253431 RCV002253430 rs72657689 RCV000437137 RCV000499095 |
950 | A>T | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA278636222 RCV000499022 rs72657690 |
952 | F>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_013379 rs72657700 CA7925764 RCV000499181 RCV001857044 |
953 | L>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499294 RCV001865581 CA278636177 RCV002496924 rs72657691 |
964 | R>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001254863 rs2046997344 |
967 | W>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499041 CA394884578 rs1555510357 |
971 | W>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865583 rs368465318 CA7925740 RCV000499023 |
981 | Q>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000522447 RCV002476060 CA7925733 rs529676674 |
989 | G>R | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000499211 RCV001865586 VAR_067885 CA7925730 CA7925729 RCV000499248 rs72657692 |
992 | G>R | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt NCI-TCGA |
|
RCV000499177 rs1555509515 CA394883352 |
1011 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555509499 RCV000499355 CA394883273 |
1025 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72653705 RCV000499322 RCV001591134 CA278633213 |
1030 | R>* | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_067886 RCV002481602 RCV000499321 rs72664230 RCV001857053 |
1036 | F>missing | GACI2 and PXE; autosomal recessive Pseudoxanthoma elasticum [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs72664230 VAR_067886 |
1036 | F>del | GACI2 and PXE; autosomal recessive [UniProt] | Yes |
UniProt dbSNP |
|
rs1555509485 RCV000499094 CA394883181 |
1040 | P>L | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555509477 CA394883175 RCV000499056 |
1042 | G>S | Variant assessed as Somatic; impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs769437554 RCV000479297 RCV000499108 |
1048 | F>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067887 | 1048 | F>del | PXE; autosomal recessive [UniProt] | Yes | UniProt |
|
RCV002481599 rs72657693 RCV001851391 CA7925678 RCV000499215 |
1049 | S>A | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_067888 RCV000499329 CA278633089 rs72657694 |
1056 | D>E | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499291 CA394883043 rs72657695 |
1063 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA278633021 rs72657695 RCV001851392 RCV000499128 |
1063 | L>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000499197 RCV001529995 rs41278174 RCV002489226 RCV002253481 VAR_067889 RCV001523288 CA7925664 RCV002253480 |
1064 | R>W | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs60975032 CA278632971 RCV000499346 |
1069 | Y>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369518454 CA394883008 RCV000499323 |
1070 | A>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002507452 RCV001701447 RCV002253616 RCV002253617 rs60707953 CA7925642 RCV000839317 VAR_060988 RCV002253615 |
1097 | L>I | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499109 RCV002489227 rs63749794 CA7925604 RCV001857045 COSM967555 VAR_067890 |
1114 | R>C | Variant assessed as Somatic; 4.63e-05 impact. endometrium Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) GACI2 and PXE; autosomal recessive [NCI-TCGA, Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7925603 RCV000499040 RCV001865582 RCV002496925 rs63750427 |
1114 | R>H | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000006940 CA281567 RCV002512858 VAR_011491 rs63750427 |
1114 | R>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs72664231 RCV000499113 |
1115 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750987 RCV000499025 CA7925599 VAR_067891 |
1121 | S>L | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000499270 rs63750987 CA278631651 VAR_013380 |
1121 | S>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000499185 rs72664232 |
1122 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394881580 RCV000499348 rs1555508972 |
1124 | C>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750758 RCV002524113 RCV002496926 RCV000499050 CA7925593 |
1127 | M>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499297 CA278631599 rs63749998 |
1127 | M>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000006947 RCV000505108 RCV002504757 rs63750459 RCV002512859 CA281571 VAR_067892 |
1130 | T>M | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499057 VAR_067893 CA10588595 RCV000255412 rs63750473 |
1133 | G>A | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000499302 rs63749807 CA278631529 |
1133 | G>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs60791294 RCV000499087 VAR_013381 CA278631498 |
1138 | R>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_011492 RCV002496287 CA281565 rs60791294 RCV000731285 RCV000006939 |
1138 | R>Q | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_011493 RCV000255802 rs28939701 RCV000762960 CA281573 RCV000006949 |
1138 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs63750146 CA7925588 VAR_067894 RCV000426908 RCV000499199 |
1139 | A>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA129115 RCV000762959 RCV002251886 RCV000415101 RCV000254838 RCV000023272 RCV002291267 rs72653706 RCV000006937 |
1141 | R>* | ABCC6-related disorder Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum Cutis laxa Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002505302 RCV000900457 rs572351621 CA7925585 |
1141 | R>Q | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA278631466 rs72653743 RCV000499065 |
1143 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7925574 rs772050759 RCV000499315 |
1159 | R>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000255402 COSM471371 RCV000006950 RCV002251887 CA281575 rs72653744 RCV001536083 |
1164 | R>* | kidney Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499335 VAR_067895 RCV000413984 RCV002481269 rs63750457 CA7925569 |
1164 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555508630 RCV000499260 |
1182 | L>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499115 CA278630443 VAR_013382 rs63750607 |
1203 | G>D | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs63751215 RCV000499272 RCV002475993 RCV001558931 VAR_067896 CA7925488 |
1221 | R>C | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs63751001 CA7925487 RCV002496927 VAR_067897 RCV000499367 RCV001310321 |
1221 | R>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) GACI2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499144 rs72653745 CA278628812 |
1223 | W>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_067898 rs63750125 CA278628791 RCV000499255 |
1226 | L>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs141728905 RCV002483558 CA7925484 RCV000585230 |
1231 | V>M | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499304 rs779018991 |
1232 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002524114 RCV002481600 CA7925480 rs63750402 RCV000499053 VAR_067899 |
1235 | R>W | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA278628748 rs72653746 RCV000499148 |
1237 | Q>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs63749796 RCV000006959 VAR_067900 CA281587 |
1238 | D>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; pseudodominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000499172 rs72653747 CA278628734 |
1239 | Y>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA278628736 RCV000499013 rs63749992 |
1239 | Y>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527163 CA278628730 RCV000499086 rs72653748 |
1241 | W>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs72657701 CA278628710 RCV001726197 RCV000499364 VAR_013383 |
1241 | W>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
CA7925475 rs281865557 RCV000499284 |
1245 | E>D | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7925427 RCV002493663 rs143212758 RCV001318156 |
1252 | T>I | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555507927 RCV000499129 |
1259 | W>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs72664233 RCV001588804 RCV002496288 RCV000006941 |
1259 | W>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499289 rs72664220 RCV002496928 RCV001857046 |
1259 | W>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499027 rs1555507925 CA394877959 |
1259 | W>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7925417 RCV001857056 COSM181762 RCV002506215 rs760376992 RCV000499182 |
1263 | G>R | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [NCI-TCGA, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1311228469 CA394877887 RCV000499210 |
1264 | Q>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499157 rs72664234 |
1266 | E>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002253194 VAR_011494 RCV001529533 RCV002253195 CA232833 RCV002504758 RCV000006948 rs2238472 RCV000132640 |
1268 | R>Q | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) associated with lower plasma triglycerides and higher plasma HDL cholesterol [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs368379895 RCV002481652 CA7925414 RCV000512845 |
1268 | R>W | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA278627543 RCV000499351 rs63750209 |
1273 | R>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72653749 RCV001731722 RCV002481598 CA7925412 RCV000499179 |
1275 | R>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000499279 rs74315128 |
1275 | R>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499046 rs1555507903 |
1277 | E>KIPT* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555507893 RCV000499268 |
1291 | A>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002253410 RCV000420584 RCV000962389 RCV002253411 rs58694313 CA7925400 RCV000499072 |
1291 | A>T | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA278627462 RCV000499232 rs63750625 |
1293 | E>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499363 rs72664235 |
1294 | K>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751325 CA281581 VAR_013384 RCV000006956 |
1298 | V>F | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport; does not affect plasma membrane localization; does not increase extracellular pyrophosphate levels [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs63751325 RCV001863103 CA7925377 RCV001196250 |
1298 | V>I | Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs63750446 RCV000499145 CA278625591 |
1299 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499236 VAR_013385 rs63750494 RCV001857047 CA278625576 |
1301 | T>I | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA281583 RCV000255838 VAR_013386 RCV000762958 RCV000006957 rs63749856 |
1302 | G>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_013387 RCV001857048 CA7925374 rs63750410 RCV000499103 |
1303 | A>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant and autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs72664236 RCV000499261 |
1305 | K>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751318 CA278625550 RCV000499015 |
1307 | S>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499176 CA278625527 rs63750992 |
1311 | G>E | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000454613 CA16609774 VAR_013388 RCV000499038 RCV001383425 COSM3420789 rs63751086 |
1314 | R>Q | large_intestine Variant assessed as Somatic; 6.089e-05 impact. Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant and autosomal recessive [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000254915 RCV001535919 RCV000006942 RCV000023273 rs63750759 CA129117 VAR_011495 |
1314 | R>W | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) GACI2 and PXE; autosomal recessive [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780887287 CA7925367 RCV000499159 |
1318 | A>G | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2046496590 RCV001335747 |
1318 | A>T | Arterial calcification, generalized, of infancy, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_013389 CA281585 RCV000006958 rs63749823 |
1321 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001857049 rs72653750 RCV000499290 CA278625482 RCV002298628 |
1324 | W>* | Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs766105758 CA394875647 RCV000499032 |
1326 | D>Y | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750414 RCV000499319 VAR_067901 CA278625382 |
1335 | L>P | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_067902 RCV000499074 CA278625390 rs63750414 |
1335 | L>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001781196 CA281577 rs28939702 VAR_013390 RCV000006954 RCV002509146 |
1339 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs63750622 CA7925347 VAR_067904 RCV000255253 RCV002500955 RCV000499080 |
1339 | R>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_067903 RCV000499300 rs63750622 CA278625337 |
1339 | R>L | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs63750608 CA278625336 RCV002527164 RCV000499194 |
1342 | I>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs63751112 RCV000499330 VAR_067905 CA278625320 |
1346 | P>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs63751111 CA278676858 VAR_013391 RCV000499117 |
1347 | Q>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA278676828 RCV000499230 rs72664288 |
1350 | I>L | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA278676822 RCV000499341 rs63750018 VAR_013392 |
1354 | G>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_067906 RCV000132641 CA232835 RCV000499136 rs63750428 |
1357 | R>W | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000499266 RCV000483462 VAR_013393 rs58695352 CA7925316 |
1361 | D>N | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000504780 RCV001857050 RCV002506213 RCV000499018 rs72664237 |
1368 | D>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs67791546 RCV000499133 RCV002489228 RCV000599457 |
1394 | K>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7925291 RCV000499092 rs749035807 RCV001857057 |
1397 | D>N | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499242 CA7925290 RCV002524116 rs66913554 |
1398 | R>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499034 rs63751241 VAR_067907 CA7925287 RCV001857051 |
1400 | E>K | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000499150 CA7925255 rs63750700 |
1403 | S>R | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA278675411 rs947230593 RCV000499309 |
1405 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906859 RCV000023278 CA129122 RCV000023277 VAR_067908 |
1406 | Q>K | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Pseudoxanthoma elasticum (pxe) PXE; autosomal recessive [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000499303 rs72664222 |
1408 | Q>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775319351 RCV002524120 RCV000499252 CA278675370 |
1414 | R>H | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000006944 rs387906352 |
1415 | A>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499009 rs63751262 CA7925241 RCV000658742 |
1418 | R>Q | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499130 RCV001857059 rs1448934731 |
1419 | K>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750295 CA278675341 VAR_013394 RCV000499299 |
1424 | I>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000499209 rs74315109 |
1436 | T>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499318 rs72664238 |
1440 | M>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072813 RCV000499060 CA394883831 rs1462269230 |
1442 | A>T | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) found in patient with putative diagnosis of PEX; uncertain pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs72664239 RCV000499070 |
1446 | S>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394883793 rs1333662666 RCV000499263 |
1447 | W>* | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_067909 rs72547524 RCV000455869 RCV002482835 RCV000006955 CA281579 RCV001851712 |
1459 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) PXE; putative autosomal dominant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001865585 CA394883709 rs1030872147 RCV000499296 RCV002475998 |
1461 | R>C | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000499356 rs72653751 CA278675040 |
1474 | K>* | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001002849 rs1596578599 CA394883613 RCV002549193 |
1475 | G>E | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499110 rs72664280 |
1479 | E>missing | Pseudoxanthoma elasticum [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001090334 CA7925162 RCV000499313 rs63751279 RCV002506212 |
1481 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002490819 RCV000499340 rs63750135 RCV001200404 CA7925161 |
1483 | P>L | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs63750874 CA278674989 RCV000499131 |
1501 | G>S | Pseudoxanthoma elasticum Pseudoxanthoma elasticum (pxe) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA279014519 rs904327622 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs1461014933 CA395202993 |
3 | A>S | No |
ClinGen gnomAD |
|
|
rs1044270911 CA279014518 |
6 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472500361 CA395202931 |
7 | P>S | No |
ClinGen gnomAD |
|
|
rs1472500361 CA395202933 |
7 | P>T | No |
ClinGen gnomAD |
|
|
rs1412967184 CA395202921 |
8 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA395202927 rs1251550884 |
8 | C>G | No |
ClinGen TOPMed |
|
|
CA395202926 rs1251550884 |
8 | C>R | No |
ClinGen TOPMed |
|
|
CA395202889 rs1474254372 |
11 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395202890 rs1474254372 |
11 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA279014516 rs545266923 |
12 | G>E | No |
ClinGen 1000Genomes |
|
|
CA279014517 rs1012801593 |
12 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 18 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395202678 rs1238389360 |
18 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395202654 rs1567551434 |
22 | A>D | No |
ClinGen Ensembl |
|
|
rs371804833 CA7926725 |
23 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371804833 CA7926726 |
23 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7926722 rs770233922 CA395202617 |
28 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417615917 CA395202577 |
35 | A>T | No |
ClinGen gnomAD |
|
|
rs777330921 CA7926720 |
36 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557779326 RCV000942182 CA7926719 |
37 | V>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1263070594 CA395202537 |
39 | V>I | No |
ClinGen gnomAD |
|
|
rs778544828 CA7926715 |
40 | P>A | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757143605 CA7926713 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778544828 CA7926714 |
40 | P>T | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753761990 CA7926712 |
41 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777631658 CA7926711 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753761990 CA395202517 |
41 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746531177 | 42 | M>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756051632 CA7926706 |
42 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7926709 rs1555523458 |
42 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 44 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395202445 rs1425697662 |
46 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751588595 CA7926705 |
49 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334507946 CA395202401 |
50 | I>V | No |
ClinGen gnomAD |
|
|
CA7926704 rs766492973 |
53 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs374115365 CA279014405 |
54 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs372062746 CA7926703 |
55 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926702 rs367832780 |
56 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926701 rs374778258 |
57 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443741562 CA395202270 |
58 | H>R | No |
ClinGen TOPMed |
|
|
CA7926696 rs183648123 |
60 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001700226 rs183648123 CA7926695 RCV000585541 |
60 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7926697 rs761289104 |
60 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745506209 CA395202231 |
61 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745506209 CA7926694 |
61 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774111532 CA7926693 |
62 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279014403 rs978223068 |
63 | L>V | No |
ClinGen TOPMed |
|
|
CA7926692 rs557180313 COSM1708793 VAR_013365 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000486589 rs1064793538 |
66 | S>missing | No |
ClinVar dbSNP |
|
|
CA395202158 rs1256169470 |
66 | S>A | No |
ClinGen gnomAD |
|
|
CA7926689 rs756021073 COSM967579 |
66 | S>F | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA395202134 rs1477745192 |
68 | L>P | No |
ClinGen TOPMed |
|
|
CA7926688 rs748123458 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA395202111 rs1596781321 |
70 | K>Q | No |
ClinGen Ensembl |
|
|
rs779991699 CA7926687 |
71 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330645129 CA395202095 |
71 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1167869456 CA395202075 |
72 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926686 rs758559224 |
73 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394893691 rs1426447176 |
74 | V>M | No |
ClinGen TOPMed |
|
|
rs757533434 CA7926663 |
79 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7926662 rs754156749 |
80 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394893645 rs1211998073 |
81 | V>A | No |
ClinGen gnomAD |
|
|
CA7926661 rs778282044 |
82 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394893637 rs1289602320 |
83 | C>G | No |
ClinGen TOPMed |
|
|
CA394893636 rs1277521548 |
83 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394893615 rs1380838743 |
86 | S>T | No |
ClinGen TOPMed |
|
|
CA278671556 rs1021031399 |
87 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394893596 rs1159736192 |
89 | V>D | No |
ClinGen Ensembl |
|
|
CA394893590 rs1339125190 |
90 | A>V | No |
ClinGen gnomAD |
|
| rs1555522997 | 94 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394893556 rs1355491834 |
95 | Q>R | No |
ClinGen TOPMed |
|
|
rs1466913193 CA394893532 |
98 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394893526 rs1174296983 |
99 | P>L | No |
ClinGen gnomAD |
|
|
CA394893525 rs1411728572 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA7926659 rs753016843 |
101 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756608278 CA7926660 |
101 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394893487 rs1477424498 |
105 | L>P | No |
ClinGen gnomAD |
|
|
rs1567549262 CA394893484 |
106 | I>V | No |
ClinGen Ensembl |
|
|
CA394893474 rs1201921946 |
107 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260978010 CA394893466 |
108 | P>R | No |
ClinGen gnomAD |
|
|
CA278671544 rs1033531337 |
109 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1183345563 CA394893461 |
109 | T>S | No |
ClinGen gnomAD |
|
|
rs1441562603 CA394893428 |
114 | T>M | No |
ClinGen TOPMed |
|
|
rs1441562603 CA394893430 |
114 | T>R | No |
ClinGen TOPMed |
|
|
CA278671496 rs1052064121 |
118 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394893379 rs1166899687 |
120 | F>L | No |
ClinGen gnomAD |
|
|
rs1424170078 CA394893355 |
123 | H>R | No |
ClinGen gnomAD |
|
|
rs1596775875 CA394893322 |
128 | K>E | No |
ClinGen Ensembl |
|
|
rs1197437569 CA394893304 |
131 | Q>* | No |
ClinGen gnomAD |
|
|
rs369280729 CA278671485 |
131 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs545855341 CA278671482 |
132 | S>L | No |
ClinGen 1000Genomes |
|
|
rs989524613 CA278671481 |
133 | S>P | No |
ClinGen TOPMed |
|
|
CA394893268 rs1321662708 |
137 | F>L | No |
ClinGen gnomAD |
|
|
CA394893261 rs1307984851 |
138 | G>R | No |
ClinGen TOPMed |
|
|
rs1307984851 CA394893262 |
138 | G>S | No |
ClinGen TOPMed |
|
|
rs1242802005 CA394893242 |
140 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1242802005 CA394893240 |
140 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394893231 rs1377884821 |
142 | L>F | No |
ClinGen gnomAD |
|
|
rs1330987157 CA394893222 |
143 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA278671471 rs926414743 |
145 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1480330108 CA394893202 |
146 | L>F | No |
ClinGen TOPMed |
|
|
CA7926651 rs761526463 |
146 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980998558 CA278671453 |
147 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs980998558 CA394893200 |
147 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA278671439 CA7926650 rs530448710 |
150 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278671436 rs1025306917 |
151 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 153 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278671434 rs563277493 |
154 | Q>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7926649 rs541797555 |
155 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394893142 rs746971185 |
156 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA394893146 rs1177700185 |
156 | S>T | No |
ClinGen gnomAD |
|
|
CA7926648 rs746971185 |
156 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1297317601 CA394892504 |
159 | G>D | No |
ClinGen gnomAD |
|
|
CA394892476 rs1300981077 |
161 | Q>P | No |
ClinGen TOPMed |
|
|
CA394892466 rs1596757777 |
162 | S>G | No |
ClinGen Ensembl |
|
|
CA394892460 rs1398772473 |
162 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394892431 rs1172856870 |
164 | P>L | No |
ClinGen gnomAD |
|
|
CA394892439 rs1329874259 |
164 | P>S | No |
ClinGen TOPMed |
|
|
rs532499310 CA278670079 |
165 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA278670071 rs549917901 |
166 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394892399 rs1191928895 |
167 | H>L | No |
ClinGen gnomAD |
|
|
rs1263140942 CA394892405 |
167 | H>Y | No |
ClinGen gnomAD |
|
|
rs1444552838 CA394892373 |
169 | S>F | No |
ClinGen gnomAD |
|
|
rs1334830408 CA394892360 |
171 | Y>H | No |
ClinGen gnomAD |
|
|
CA278670059 rs531566232 |
173 | C>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1200021951 CA394892319 |
174 | L>P | No |
ClinGen gnomAD |
|
|
CA394892302 rs1343156604 |
176 | L>M | No |
ClinGen gnomAD |
|
|
rs1260025463 CA394892281 |
178 | V>M | No |
ClinGen gnomAD |
|
|
CA394892250 rs1219366235 |
180 | Q>H | No |
ClinGen gnomAD |
|
|
CA394892228 rs1318474456 |
182 | V>L | No |
ClinGen gnomAD |
|
|
CA394892205 rs1277539221 |
184 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1277539221 CA394892204 |
184 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394892132 rs1567543413 |
190 | P>S | No |
ClinGen Ensembl |
|
|
rs1403467139 CA394892116 |
191 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394892118 rs1403467139 |
191 | P>R | No |
ClinGen TOPMed gnomAD |
|
| rs1172142986 | 192 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749314494 CA7926624 |
194 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423521293 CA394892059 |
196 | D>N | No |
ClinGen gnomAD |
|
|
rs1567543348 CA394892051 |
196 | D>V | No |
ClinGen Ensembl |
|
|
rs1040048980 CA278670022 |
197 | P>L | No |
ClinGen TOPMed |
|
|
rs1158180572 CA394892042 |
197 | P>S | No |
ClinGen gnomAD |
|
|
rs1380082105 CA394891885 |
202 | P>R | No |
ClinGen gnomAD |
|
|
rs556731532 CA7926618 |
203 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596748622 CA394891867 |
204 | P>T | No |
ClinGen Ensembl |
|
|
rs1398839265 CA394891836 |
206 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420747117 CA394891628 |
214 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278669358 rs535223881 |
214 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1420747117 CA394891629 |
214 | A>V | No |
ClinGen TOPMed |
|
|
CA394891621 rs1392125261 |
215 | T>M | No |
ClinGen gnomAD |
|
|
rs1007762475 CA394891582 |
221 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1007762475 CA278669352 |
221 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768926954 CA7926600 |
223 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747292090 CA7926599 |
225 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287829352 CA394891545 |
225 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA278668697 rs550069568 |
225 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394891541 rs1210571370 |
226 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7926598 rs780415590 |
227 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7926596 rs746412523 |
228 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7926597 rs746412523 |
228 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367780960 CA394891523 |
229 | R>K | No |
ClinGen gnomAD |
|
|
CA394891514 rs1268495449 |
230 | P>L | No |
ClinGen TOPMed |
|
|
rs778393141 CA394891497 |
233 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778393141 CA394891498 |
233 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778393141 CA7926595 |
233 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394891499 rs1464300283 |
233 | P>S | No |
ClinGen TOPMed |
|
|
CA7926594 rs538065529 |
236 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372211360 CA278668688 |
236 | L>I | No |
ClinGen ESP gnomAD |
|
|
CA7926592 rs763591743 |
238 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753405638 CA7926593 |
238 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174395200 CA394891461 |
239 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs752492902 CA7926590 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926589 rs767470535 |
241 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394891445 rs72650697 |
242 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759517670 CA7926588 |
243 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA394891435 rs1240002535 |
243 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761731967 CA7926585 |
245 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs766352704 CA7926586 |
245 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA394891414 rs1400512740 |
247 | E>K | No |
ClinGen TOPMed |
|
|
CA394891392 rs1360228269 |
250 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1360228269 CA394891393 |
250 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7926580 rs768708445 |
250 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7926578 rs548741161 |
251 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7926576 rs72653757 |
252 | L>I | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779338019 CA7926575 |
253 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs866774642 CA278668658 |
253 | E>K | No |
ClinGen Ensembl |
|
|
rs779338019 CA394891381 |
253 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA394891368 rs1467289991 |
255 | E>Q | No |
ClinGen gnomAD |
|
|
rs1328153294 CA394891346 |
257 | M>I | No |
ClinGen TOPMed |
|
|
rs1171374387 CA394891340 |
258 | R>T | No |
ClinGen gnomAD |
|
|
rs777365579 CA7926573 |
260 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755700774 CA7926571 |
260 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA394891326 rs755700774 |
260 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs777365579 CA7926572 |
260 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752439860 CA7926570 |
261 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781119252 CA7926569 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7926567 rs751403636 |
263 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926568 rs751403636 |
263 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926566 rs376409933 |
264 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753836442 CA7926564 |
264 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000714807 rs376409933 CA7926565 |
264 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760880587 CA7926563 |
265 | R>K | No |
ClinGen ExAC |
|
|
CA7926542 rs368547779 |
267 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926541 rs766810653 |
270 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA394891258 rs1350144480 |
270 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 271 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926540 rs763368082 |
271 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7926539 rs199534175 |
272 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1427318046 CA394891243 |
273 | K>E | No |
ClinGen gnomAD |
|
|
CA394891240 rs1416849864 |
273 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1270085507 CA394891228 |
275 | K>E | No |
ClinGen gnomAD |
|
|
CA394891219 rs1596719306 |
276 | G>D | No |
ClinGen Ensembl |
|
|
rs200051606 CA7926538 |
276 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201615561 CA7926535 |
277 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926534 rs746714494 |
278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs779707518 CA7926533 |
279 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394891202 rs1354650349 |
279 | G>S | No |
ClinGen gnomAD |
|
|
CA7926532 CA278667119 rs371480297 |
280 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 280 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394891185 rs778756902 |
282 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778756902 CA394891184 |
282 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778756902 CA7926530 |
282 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394891166 rs1405427897 |
285 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7926528 RCV001230341 rs752725393 |
286 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7926526 rs376822399 |
287 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926527 rs376822399 |
287 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926522 rs765786719 |
290 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765786719 CA7926521 |
290 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926523 rs200330935 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1176189532 CA394891104 |
295 | Q>K | No |
ClinGen gnomAD |
|
|
rs776248626 CA7926519 |
297 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199729978 CA7926518 RCV000929950 |
297 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394891087 rs776248626 |
297 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs991363068 CA394891069 |
300 | L>P | No |
ClinGen TOPMed |
|
|
rs991363068 CA278667072 |
300 | L>R | No |
ClinGen TOPMed |
|
|
CA394891060 rs1196273822 |
302 | A>T | No |
ClinGen gnomAD |
|
|
CA394891053 rs1471373703 |
303 | I>V | No |
ClinGen TOPMed |
|
|
CA394891044 rs1178130319 |
304 | W>* | No |
ClinGen TOPMed |
|
|
CA7926517 rs746625905 |
305 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7926516 rs775152691 |
306 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1223024378 CA394891014 |
308 | H>R | No |
ClinGen gnomAD |
|
|
rs745637262 CA7926514 |
309 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 310 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300618740 CA394891003 |
310 | T>S | No |
ClinGen TOPMed |
|
|
CA394890969 rs1317388904 |
315 | T>I | No |
ClinGen gnomAD |
|
|
rs749267111 CA7926511 |
317 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs928178939 CA278667009 |
318 | L>R | No |
ClinGen TOPMed |
|
|
rs1285398262 CA394890956 |
318 | L>V | No |
ClinGen TOPMed |
|
|
rs1427800902 CA394890945 |
320 | I>V | No |
ClinGen gnomAD |
|
|
rs565924265 CA278667005 |
323 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1476030226 CA394890913 |
324 | F>C | No |
ClinGen gnomAD |
|
|
rs750774345 CA7926505 |
328 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218453491 CA394890884 |
329 | P>T | No |
ClinGen gnomAD |
|
|
CA394890873 rs1444311439 |
330 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394890874 rs1444311439 |
330 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1257185601 CA394890868 |
331 | L>P | No |
ClinGen gnomAD |
|
|
CA7926491 rs777631910 |
334 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7926490 rs769647527 |
334 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926489 rs747058720 |
335 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1310770769 CA394890825 |
336 | L>P | No |
ClinGen gnomAD |
|
|
rs758610942 CA7926487 |
338 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA7926485 rs779406291 |
339 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1407577384 CA394890799 |
340 | G>D | No |
ClinGen gnomAD |
|
|
rs757635771 CA7926484 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs145232796 CA278666474 |
341 | D>H | No |
ClinGen ESP TOPMed |
|
|
CA7926483 rs754261093 |
345 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7926481 rs761108674 |
348 | K>T | No |
ClinGen ExAC |
|
|
rs1596715194 CA394890742 |
349 | G>S | No |
ClinGen Ensembl |
|
|
rs1382445964 CA394890724 |
351 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7926479 rs766980759 |
352 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926477 rs774051128 |
353 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369074083 CA7926476 |
353 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221509518 CA394890712 |
354 | V>E | No |
ClinGen gnomAD |
|
|
rs1265706743 CA394890708 |
355 | L>V | No |
ClinGen TOPMed |
|
|
rs1223848059 CA394890702 |
356 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1039952155 CA278666432 |
360 | A>G | No |
ClinGen TOPMed |
|
|
rs772101560 CA7926470 |
361 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA278666407 rs944015667 |
363 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394890656 rs944015667 |
363 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs72653759 CA7926469 |
364 | T>M | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum (pxe) [NCI-TCGA, Ensembl] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1064794607 RCV000486056 CA16620077 |
365 | L>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1405808695 CA394890631 |
367 | E>D | No |
ClinGen gnomAD |
|
|
CA7926466 rs530073662 |
369 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394890617 rs1264601665 |
369 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756614582 CA7926464 RCV000418197 |
371 | M>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1464814949 CA394890606 |
371 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 372 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926463 rs753215042 |
373 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA278666377 rs946150300 |
373 | R>S | No |
ClinGen TOPMed |
|
|
CA394890589 rs1596714804 |
373 | R>T | No |
ClinGen Ensembl |
|
|
CA7926461 rs370022963 |
374 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926460 rs754429280 |
376 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926458 rs765964408 |
377 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs751076949 CA394890567 |
377 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224859041 CA394890558 |
378 | Q>H | No |
ClinGen gnomAD |
|
|
rs772955656 CA7926456 |
379 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7926453 rs776373779 |
382 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394890529 rs1277798362 |
383 | S>L | No |
ClinGen TOPMed |
|
|
rs745903918 CA7926451 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7926449 rs771256512 |
387 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394890504 rs771256512 |
387 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394890496 rs1181714242 |
389 | V>L | No |
ClinGen TOPMed |
|
|
CA7926446 rs756498547 |
392 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7926445 rs748562202 |
392 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1405763963 CA394890459 |
393 | V>D | No |
ClinGen TOPMed |
|
|
CA394890461 rs1382343514 |
393 | V>L | No |
ClinGen gnomAD |
|
|
CA394890455 rs1393260628 |
394 | L>V | No |
ClinGen gnomAD |
|
|
CA7926413 rs773374784 |
397 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773374784 CA394890436 |
397 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7926412 rs769882654 |
398 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394890418 rs1161109629 |
401 | R>K | No |
ClinGen gnomAD |
|
|
rs1420424274 CA394890406 CA394890407 |
402 | K>N | No |
ClinGen gnomAD |
|
|
rs1250616506 CA394890403 |
403 | A>S | No |
ClinGen gnomAD |
|
|
rs1177075728 CA394890394 |
404 | S>I | No |
ClinGen gnomAD |
|
|
rs1177075728 CA394890396 |
404 | S>T | No |
ClinGen gnomAD |
|
|
CA394890382 rs1271442923 |
406 | V>A | No |
ClinGen gnomAD |
|
|
rs1430610674 CA394890385 |
406 | V>L | No |
ClinGen TOPMed |
|
|
CA278664221 rs866947308 |
407 | G>D | No |
ClinGen Ensembl |
|
|
rs1223736700 CA394890378 |
407 | G>S | No |
ClinGen gnomAD |
|
|
rs528670320 CA7926405 |
408 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs528670320 CA394890371 |
408 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1268951953 CA394890364 |
409 | V>A | No |
ClinGen TOPMed |
|
|
rs952825603 CA278664217 |
410 | V>A | No |
ClinGen Ensembl |
|
|
CA7926403 rs756831300 |
411 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926404 rs756831300 |
411 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755918422 CA7926401 |
412 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926399 rs767525456 |
413 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926397 rs200582171 |
415 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7926395 rs761923987 |
416 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926393 VAR_067853 rs768869262 |
417 | V>M | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs536098094 CA7926392 |
418 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772434460 CA394890312 |
419 | R>P | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7926391 rs775853778 |
419 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278664105 rs932396289 |
421 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs547565680 CA7926385 |
422 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7926387 rs770532500 |
422 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260179420 CA394890293 |
423 | S>N | No |
ClinGen gnomAD |
|
|
rs747905455 CA7926383 |
424 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596703616 CA394890274 |
426 | Y>S | No |
ClinGen Ensembl |
|
|
rs751569017 CA7926380 |
427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201880691 CA7926379 |
428 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978346965 CA278664036 |
429 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA278664033 rs968328446 |
430 | L>R | No |
ClinGen TOPMed |
|
|
rs563862970 CA7926377 |
433 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7926376 rs764251624 |
434 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926374 rs775802572 |
435 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 439 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748770237 CA394890198 |
439 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748770237 CA7926369 |
439 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1263843985 CA394890192 |
440 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7926368 rs72653766 |
440 | C>R | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA394890191 rs1263843985 |
440 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394890176 rs1415514046 |
442 | V>A | No |
ClinGen TOPMed |
|
|
rs372059636 CA7926365 |
442 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926364 rs142007498 |
443 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294485971 CA394890159 |
445 | W>* | No |
ClinGen gnomAD |
|
|
CA278663920 rs896973863 |
445 | W>R | No |
ClinGen TOPMed |
|
|
CA7926363 rs746781173 |
446 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394890134 rs751934523 |
447 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751934523 CA7926334 |
447 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926333 rs766697715 |
448 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1678862 CA394890126 rs1302709839 |
449 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7926331 rs750898196 |
450 | P>L | Variant assessed as Somatic; 0.0002778 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394890118 rs1410193061 |
450 | P>S | No |
ClinGen gnomAD |
|
|
rs1179736830 CA394890106 |
452 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761364455 CA7926329 |
452 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA278659991 rs879096025 |
453 | L>P | No |
ClinGen gnomAD |
|
|
rs554886514 CA7926328 |
454 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1307508961 CA394890090 |
455 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7926327 rs141309818 |
456 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7926324 rs771913153 |
457 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA394890082 rs775349711 |
457 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926325 rs775349711 |
457 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350569645 CA394890079 |
458 | V>I | No |
ClinGen gnomAD |
|
|
rs748212814 CA7926320 |
461 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1397157995 CA394890038 |
464 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394890042 rs1471414245 |
464 | P>T | No |
ClinGen TOPMed |
|
|
rs755200644 CA7926318 |
468 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751783664 CA7926317 |
471 | K>Q | No |
ClinGen ExAC |
|
|
CA7926316 rs780432555 |
471 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394889978 rs1387815589 |
473 | R>T | No |
ClinGen gnomAD |
|
|
rs758767349 CA7926315 |
475 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1429679609 CA394889958 |
476 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1429679609 CA394889957 |
476 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA278659879 rs1052801399 |
476 | H>Y | No |
ClinGen Ensembl |
|
|
rs1596687106 CA394889949 |
477 | Q>P | No |
ClinGen Ensembl |
|
|
CA278658082 rs368746151 |
479 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746211393 CA7926294 |
480 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1317220660 CA394889909 |
481 | M>V | No |
ClinGen gnomAD |
|
|
rs1324897274 CA394889893 |
483 | Q>* | No |
ClinGen TOPMed |
|
|
CA7926293 rs374244303 |
487 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278658077 rs374244303 |
487 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394889863 rs1356010293 |
488 | A>T | No |
ClinGen gnomAD |
|
|
rs1170917428 CA394889858 |
488 | A>V | No |
ClinGen gnomAD |
|
|
rs1387993598 CA394889855 |
489 | R>Q | No |
ClinGen gnomAD |
|
|
rs1429849647 CA394889847 |
491 | T>A | No |
ClinGen TOPMed |
|
|
rs755513036 CA7926289 |
492 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA394889832 rs1254882920 |
493 | S>P | No |
ClinGen gnomAD |
|
|
CA7926288 rs752237181 |
493 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394889828 rs1481921651 |
494 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7926286 rs759237396 |
496 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA394889806 rs1329783594 |
497 | N>I | No |
ClinGen TOPMed |
|
|
rs923888648 CA278658050 |
498 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408009770 CA394889795 |
499 | K>R | No |
ClinGen TOPMed |
|
|
rs372045804 CA7926285 |
500 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772952563 CA394889786 |
501 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs772952563 CA7926282 |
501 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567513428 CA394889782 |
501 | I>M | No |
ClinGen Ensembl |
|
|
rs772952563 CA7926283 |
501 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001090338 rs72653771 |
502 | K>R | No |
ClinVar dbSNP |
|
|
CA394889767 rs1375493233 |
503 | F>L | No |
ClinGen gnomAD |
|
|
CA394889770 rs1596679324 |
503 | F>S | No |
ClinGen Ensembl |
|
|
rs769798621 CA7926281 |
504 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7926280 rs747009873 |
505 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151130276 COSM106835 CA278657998 |
506 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394889750 rs1567513399 COSM106835 |
506 | W>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7926279 rs151130276 |
506 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561552566 CA7926278 |
507 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394889744 rs1596679262 |
507 | E>G | No |
ClinGen Ensembl |
|
|
CA278657997 rs368017088 |
507 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1341907923 CA394889737 |
508 | G>E | No |
ClinGen TOPMed |
|
|
CA7926277 rs746159494 |
509 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481882589 CA394889731 |
510 | F>I | No |
ClinGen TOPMed |
|
|
CA394889711 rs757506868 |
512 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926274 rs749668818 |
513 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278657983 rs917761949 |
515 | L>V | No |
ClinGen Ensembl |
|
|
rs1271509242 CA394889688 |
517 | I>V | No |
ClinGen gnomAD |
|
|
CA7926271 rs767057050 |
519 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394889665 rs1218099786 |
521 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs374546971 CA7926270 |
523 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143588929 CA7926267 |
524 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143588929 CA278657944 |
524 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001309643 CA394889638 rs1348337015 |
525 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs773079563 CA394889637 |
526 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7926265 rs761847996 |
526 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926264 rs761847996 |
526 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926266 rs773079563 |
526 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1291272925 CA394889634 |
527 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 527 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000902289 rs199643353 CA7926261 |
529 | G>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs140045277 CA7926262 COSM471372 |
529 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1470231651 CA394889617 |
530 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224224939 CA394889612 |
531 | L>F | No |
ClinGen TOPMed |
|
|
CA7926259 rs199634124 COSM1376147 |
534 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394889594 rs199634124 |
534 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs749568041 CA7926258 |
535 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7926256 rs770172306 |
536 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748724484 CA7926255 |
537 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7926254 rs780671208 |
542 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA394889541 rs1207983344 |
543 | T>P | No |
ClinGen gnomAD |
|
|
CA7926253 rs754414760 |
544 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1011923791 | 546 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745373850 CA7926211 |
546 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs56877937 CA394889508 |
547 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56877937 RCV000489433 CA7926210 |
547 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394889504 rs1410893515 |
547 | A>V | No |
ClinGen gnomAD |
|
|
rs1596675477 CA394889498 |
549 | V>M | No |
ClinGen Ensembl |
|
|
CA278657044 rs914084997 |
550 | V>A | No |
ClinGen TOPMed |
|
|
rs532536884 CA278657037 |
551 | F>L | No |
ClinGen Ensembl |
|
|
rs558508305 CA7926208 |
553 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394889467 rs1596675383 |
554 | H>P | No |
ClinGen Ensembl |
|
|
rs1184073964 CA394889462 |
555 | T>P | No |
ClinGen gnomAD |
|
|
rs769979506 CA278657024 |
555 | T>S | No |
ClinGen Ensembl |
|
|
CA394889444 rs1490747772 |
558 | A>D | No |
ClinGen gnomAD |
|
|
CA7926204 rs767373230 |
558 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs114149656 CA16608011 RCV000424143 |
559 | E>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7926202 rs114149656 COSM3817313 |
559 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA394889426 rs1567511339 |
561 | A>T | No |
ClinGen Ensembl |
|
|
CA394889419 rs575023438 |
562 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7926201 rs575023438 |
562 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394889405 rs1350198802 |
564 | A>T | No |
ClinGen gnomAD |
|
|
CA394889395 rs1286876729 |
565 | E>G | No |
ClinGen gnomAD |
|
|
rs143092672 CA7926200 |
567 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs369358409 CA7926196 |
570 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926195 rs772487026 |
570 | T>S | No |
ClinGen ExAC |
|
|
rs1428489942 CA394889360 |
571 | L>V | No |
ClinGen TOPMed |
|
|
CA394889350 rs1457725817 |
572 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1161212662 CA394889355 |
572 | T>P | No |
ClinGen gnomAD |
|
|
CA394889352 rs1457725817 |
572 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394889341 rs1179803162 |
574 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745335274 CA7926194 |
575 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7926192 rs770677975 |
576 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7926193 rs774053885 |
576 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749017755 CA7926191 |
579 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329119665 CA394889304 |
580 | A>T | No |
ClinGen gnomAD |
|
|
CA394889295 rs1266600508 |
581 | Q>P | No |
ClinGen gnomAD |
|
|
COSM231684 rs777700593 CA7926190 |
582 | A>P | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA7926189 rs541463984 |
583 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7926188 rs747904631 |
584 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1596674949 CA394889269 |
585 | P>L | No |
ClinGen Ensembl |
|
|
rs1274416857 CA394889272 |
585 | P>S | No |
ClinGen gnomAD |
|
|
rs750497192 CA7926186 |
588 | I>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000722873 rs1567511016 |
589 | H>missing | No |
ClinVar dbSNP |
|
|
CA394889245 rs1435686899 |
589 | H>R | No |
ClinGen gnomAD |
|
|
rs537233133 CA278656938 |
590 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA278656929 rs201193903 |
591 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7926183 rs201193903 |
591 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7926180 rs753035055 |
592 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs190761354 COSM181764 CA7926181 |
592 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs190761354 CA278656913 |
592 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394889228 rs1249307722 |
593 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7926156 rs762499171 |
595 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926157 rs150866831 RCV000912483 |
595 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394889202 rs1413781077 |
596 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772893948 CA7926155 |
597 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772893948 CA394889193 |
597 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204647405 CA394889187 |
598 | F>C | No |
ClinGen gnomAD |
|
|
rs761433545 CA7926153 |
600 | R>H | Variant assessed as Somatic; 0.0 impact. Pseudoxanthoma elasticum (pxe) [NCI-TCGA, Ensembl] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761433545 CA16607129 RCV000438644 |
600 | R>P | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1455288935 CA394889158 |
603 | T>N | No |
ClinGen TOPMed |
|
|
CA394889162 rs1596670403 |
603 | T>P | No |
ClinGen Ensembl |
|
|
rs776483503 CA7926151 |
604 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779918495 CA7926148 |
606 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs772029460 CA7926147 |
608 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749334729 CA7926146 COSM967563 |
609 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1172383227 CA394889123 |
609 | E>A | No |
ClinGen TOPMed |
|
|
rs777763168 CA7926145 |
612 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394889101 rs777763168 |
612 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944326875 CA278651800 |
612 | P>S | No |
ClinGen Ensembl |
|
|
CA7926144 rs369816256 |
613 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs72653778 CA278651778 |
613 | G>V | No |
ClinGen Ensembl |
|
|
rs372235202 CA7926141 |
615 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751992037 CA7926140 |
616 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371997398 CA7926139 |
618 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371997398 CA7926138 |
618 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764724652 CA7926136 |
623 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 624 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394889021 rs1176995131 |
624 | A>S | No |
ClinGen gnomAD |
|
|
CA7926118 COSM3356804 rs780626660 |
625 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1213360943 CA394889007 |
626 | K>N | No |
ClinGen TOPMed |
|
|
rs758972882 CA7926117 |
626 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466190573 CA394889005 |
627 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394888996 rs1596664464 |
628 | C>G | No |
ClinGen Ensembl |
|
|
CA394888993 rs1596664449 |
628 | C>S | No |
ClinGen Ensembl |
|
|
CA7926115 rs765789199 |
629 | I>T | No |
ClinGen ExAC |
|
|
CA394888988 rs1208037787 |
629 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756674188 CA7926114 |
630 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7926112 rs763622746 |
631 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926110 rs775252212 |
633 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567506423 CA394888965 |
633 | S>R | No |
ClinGen Ensembl |
|
|
CA7926108 rs759329140 |
637 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394888883 rs1361260153 |
644 | P>L | No |
ClinGen TOPMed |
|
|
rs763559553 CA278650070 |
645 | C>F | No |
ClinGen Ensembl |
|
|
CA394888864 rs1448224926 |
647 | H>P | No |
ClinGen TOPMed |
|
|
CA394888867 rs1404751032 |
647 | H>Y | No |
ClinGen gnomAD |
|
|
rs749872772 CA7926077 |
651 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 651 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926076 RCV001090337 rs146936233 |
652 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780781289 CA7926073 |
653 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7926072 rs754695089 |
654 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs369410139 CA7926071 |
655 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369410139 CA7926070 |
655 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394888800 rs762665355 |
656 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7926069 rs762665355 |
656 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264660624 CA394888795 |
657 | C>Y | No |
ClinGen gnomAD |
|
|
CA7926068 rs750330150 |
658 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192401956 CA394888786 |
659 | L>M | No |
ClinGen gnomAD |
|
|
rs1209896068 CA394888771 |
661 | V>A | No |
ClinGen gnomAD |
|
|
CA394888773 rs1250519612 |
661 | V>F | No |
ClinGen gnomAD |
|
|
rs4341770 VAR_055477 CA278648318 |
665 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7926061 rs774573071 |
665 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771260023 CA7926060 |
667 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 675 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780726064 CA7926053 |
675 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394888697 rs1381261089 |
675 | A>V | No |
ClinGen gnomAD |
|
|
rs1172625798 CA394888690 |
676 | L>P | No |
ClinGen gnomAD |
|
|
CA278648254 rs1050927346 |
679 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 679 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7926051 rs746608585 |
680 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7926050 rs779590375 |
681 | S>L | No |
ClinGen ExAC |
|
|
CA7926049 rs758166222 |
682 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs150128722 CA7926047 |
683 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394888647 rs1279963123 |
684 | E>* | No |
ClinGen gnomAD |
|
|
CA7926044 rs752811993 |
685 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251280866 CA394888635 |
686 | F>L | No |
ClinGen TOPMed |
|
|
rs1378335311 CA394888624 |
687 | V>G | No |
ClinGen TOPMed |
|
|
rs774574107 CA7926041 |
688 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394888610 rs61266641 |
689 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1376146 CA7926038 rs773604010 |
690 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 692 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151272575 CA7926020 |
692 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766589881 CA7926019 |
692 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA278647992 rs374763280 |
693 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs374763280 CA278647995 |
693 | V>E | No |
ClinGen ESP TOPMed |
|
|
CA7926018 rs763209072 |
694 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7926017 rs199951066 |
694 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199913903 CA394888565 |
695 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394888568 rs1450617116 |
695 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 695 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394888562 rs143731811 |
696 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7926015 rs143731811 |
696 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394888540 rs1252723064 |
699 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394888545 rs1445084199 |
699 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs893859633 CA278647969 |
702 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7926011 rs536095313 |
703 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394888507 rs1272334631 |
704 | N>S | No |
ClinGen gnomAD |
|
|
rs1231156562 CA394888493 |
706 | S>C | No |
ClinGen gnomAD |
|
|
rs1231156562 CA394888494 |
706 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 707 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372121585 CA7926009 |
707 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926006 rs770792223 |
708 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1388795633 CA394888485 |
708 | V>I | No |
ClinGen TOPMed |
|
|
CA394888476 rs1567502974 |
709 | E>D | No |
ClinGen Ensembl |
|
|
CA278647934 rs906566275 |
710 | N>S | No |
ClinGen gnomAD |
|
|
CA7926004 rs200800189 |
711 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7926003 rs200800189 |
711 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1311825834 CA394888458 |
712 | C>* | No |
ClinGen TOPMed |
|
|
CA394888463 rs140013237 |
712 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7926000 rs200513114 |
714 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1465371756 CA394888432 |
716 | E>A | No |
ClinGen TOPMed |
|
|
CA7925999 rs750590368 |
716 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925997 rs762127969 |
723 | E>K | No |
ClinGen ExAC gnomAD |
|
| VAR_067868 | 724 | R>L | No | UniProt | |
|
CA7925993 rs775061021 |
727 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394888356 rs1302780789 |
728 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394888360 rs1314711937 |
728 | A>P | No |
ClinGen gnomAD |
|
|
rs1234291801 CA394888350 |
729 | C>S | No |
ClinGen gnomAD |
|
|
CA7925992 rs771642702 |
730 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7925991 rs759130313 |
732 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394888324 rs1437867751 |
733 | P>L | No |
ClinGen gnomAD |
|
|
CA394888323 rs1385370678 |
734 | D>N | No |
ClinGen gnomAD |
|
|
CA394888313 rs1451915602 |
735 | V>M | No |
ClinGen gnomAD |
|
|
CA394888304 rs1177051975 |
736 | D>E | No |
ClinGen gnomAD |
|
|
rs148573422 CA7925989 |
736 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1567502728 CA394888296 |
737 | S>R | No |
ClinGen Ensembl |
|
|
CA394888271 rs1453926113 |
741 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748098140 CA278647844 |
746 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394888236 rs769753486 |
746 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs1381824291 CA394888239 |
746 | I>V | No |
ClinGen gnomAD |
|
|
rs1567502644 CA394888226 |
748 | E>V | No |
ClinGen Ensembl |
|
|
CA278647838 rs66616070 |
749 | Q>E | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen Ensembl |
|
CA394888217 rs1376759881 |
749 | Q>H | No |
ClinGen TOPMed |
|
|
rs72653786 CA394888196 |
751 | M>T | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs759077182 CA7925969 |
751 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1684855 CA278645439 rs866196138 |
754 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1022850449 CA278645434 |
756 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA278645428 rs752518198 |
756 | G>V | No |
ClinGen Ensembl |
|
|
rs769405586 CA394888137 |
760 | R>L | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1251300508 CA394888128 |
762 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 764 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748000420 CA7925963 |
764 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16621688 rs776513864 RCV000488145 |
765 | R>G | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA278645385 rs67561842 |
765 | R>L | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs67561842 CA394888113 |
765 | R>P | Arterial calcification, generalized, of infancy, 2 (gaci2) Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7925961 rs538408828 |
767 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1223796455 CA394888102 |
768 | Y>N | No |
ClinGen gnomAD |
|
|
CA394888092 rs57794451 |
769 | R>I | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA394888071 rs1392101223 |
772 | A>G | No |
ClinGen gnomAD |
|
|
CA394888068 rs114185856 |
773 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA278645353 rs114185856 |
773 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394888031 rs1419792820 |
779 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs549658225 CA7925957 |
779 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394888029 rs1419792820 |
779 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 780 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs72653791 CA7925955 |
781 | A>E | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755590289 CA7925953 |
786 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs772679085 CA7925950 |
789 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA278645244 rs114246406 |
790 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs764975212 CA7925948 |
791 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs2047375741 RCV001310322 |
793 | N>S | No |
ClinVar dbSNP |
|
|
rs768570780 CA7925945 RCV000493144 |
797 | G>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1290502451 CA394887920 |
797 | G>R | No |
ClinGen gnomAD |
|
|
RCV000489677 CA278645213 rs142223793 COSM108967 |
798 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA7925944 rs747017064 |
799 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747017064 CA394887910 |
799 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775412517 CA7925943 |
799 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394887906 rs1396515363 |
800 | G>R | No |
ClinGen gnomAD |
|
|
CA7925940 rs116898670 |
803 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA278645196 rs933105824 |
803 | Q>R | No |
ClinGen gnomAD |
|
|
rs756398303 CA7925939 |
804 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs888620785 CA278645195 |
804 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1392817845 CA394887874 |
805 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA278644412 rs1021848502 |
808 | I>N | No |
ClinGen TOPMed |
|
|
CA394887842 rs1431288936 |
809 | L>P | No |
ClinGen gnomAD |
|
|
CA7925911 rs756766310 |
813 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919297067 CA278644394 |
813 | A>V | No |
ClinGen Ensembl |
|
|
RCV001298802 rs2047321115 |
818 | P>S | No |
ClinVar dbSNP |
|
|
CA394887764 rs1475320786 |
822 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 822 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278644351 rs976737187 |
824 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752527142 CA7925907 |
825 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7925908 rs760420743 |
825 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs181794120 CA7925902 |
828 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181794120 CA7925903 |
828 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1596645885 CA394887724 |
829 | G>R | No |
ClinGen Ensembl |
|
|
rs769042480 CA7925900 |
831 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs910811997 CA278644279 |
831 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7925898 rs370039769 |
831 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7925899 rs370039769 |
831 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7925897 rs772456820 |
832 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 832 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394887698 rs1412450754 |
833 | E>D | No |
ClinGen gnomAD |
|
|
rs1311895753 CA394887704 |
833 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs199990104 CA7925896 |
835 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 837 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7925894 rs756709738 |
838 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753378294 CA7925893 |
838 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278644246 rs1036487176 |
840 | L>F | No |
ClinGen TOPMed |
|
|
CA278644223 rs142701023 |
844 | K>N | No |
ClinGen ESP |
|
|
CA394887619 rs754730506 |
846 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7925888 rs754730506 |
846 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751451807 CA7925887 |
846 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925884 rs761941142 |
848 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1596645578 CA394887604 |
848 | M>R | No |
ClinGen Ensembl |
|
|
rs6416668 CA7925886 VAR_059108 |
848 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1237771587 CA394887599 |
849 | C>G | No |
ClinGen TOPMed |
|
|
CA7925882 rs764401327 |
852 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394887558 rs1298204795 |
855 | R>I | No |
ClinGen gnomAD |
|
|
rs375979955 CA394887556 |
855 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766400372 CA278644195 |
859 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 859 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394887528 rs1353199128 |
860 | R>G | No |
ClinGen gnomAD |
|
|
rs1261007620 CA394887106 |
864 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 864 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394887078 rs1405420109 |
867 | P>L | No |
ClinGen TOPMed |
|
|
CA394887080 rs1405420109 |
867 | P>R | No |
ClinGen TOPMed |
|
|
rs376512808 CA278643252 |
867 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1350911863 CA394887071 |
868 | G>E | No |
ClinGen gnomAD |
|
|
rs114349489 RCV001345615 CA7925856 |
868 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs114349489 CA7925857 |
868 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747629569 CA7925855 |
869 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754624352 CA7925853 |
870 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA278643239 rs746808719 |
871 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7925852 rs746808719 |
871 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758275685 CA7925850 |
874 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA278643225 rs943737761 |
874 | P>L | No |
ClinGen Ensembl |
|
|
CA394887016 rs1418054185 |
875 | R>S | No |
ClinGen gnomAD |
|
|
rs1308348141 CA394887018 |
875 | R>T | No |
ClinGen TOPMed |
|
|
rs149081681 CA7925848 |
876 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394886997 rs1435270669 |
878 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 878 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932481232 CA278643173 |
881 | R>T | No |
ClinGen Ensembl |
|
|
CA7925843 rs138049574 |
884 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420707553 CA394886941 |
885 | L>F | No |
ClinGen TOPMed |
|
|
COSM1732219 rs201334880 CA7925840 |
887 | R>H | bone [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs59206042 CA7925841 COSM1721130 |
887 | R>S | NS Pseudoxanthoma elasticum (pxe) [Cosmic, Ensembl] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7925838 rs115167678 |
888 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394886367 rs1294186563 |
889 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776065362 CA7925837 |
889 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925819 rs767997301 |
891 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA394886304 rs1277193521 |
892 | K>R | No |
ClinGen TOPMed |
|
|
rs775243858 CA7925817 |
896 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1434564631 CA394886172 |
897 | K>N | No |
ClinGen TOPMed |
|
|
CA7925814 rs778911783 |
898 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7925815 rs778911783 |
898 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA278641488 rs11861980 |
899 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116355959 RCV000919299 CA7925812 |
899 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs111437625 CA278641479 |
901 | T>A | No |
ClinGen Ensembl |
|
|
CA7925811 rs573589057 |
902 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7925809 rs375890241 |
906 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 906 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758666711 CA7925807 |
908 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA278641458 rs539820701 |
912 | D>N | No |
ClinGen 1000Genomes |
|
|
rs765456179 CA394885927 |
913 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765456179 CA7925805 |
913 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394885931 rs1296267226 |
913 | P>T | No |
ClinGen TOPMed |
|
|
rs1470139960 CA394885917 |
914 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1567490769 CA394885859 |
918 | W>* | No |
ClinGen Ensembl |
|
|
rs1212430516 CA394885866 |
918 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 920 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760231794 CA7925801 |
923 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775190553 CA7925800 |
926 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1308502353 CA394885519 |
926 | Q>R | No |
ClinGen gnomAD |
|
|
rs61731973 CA7925798 |
927 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767267908 CA7925799 |
927 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404401221 CA394885481 |
928 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7925781 rs375196952 |
930 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278636388 rs906122272 |
931 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394885099 rs1172490248 |
932 | A>D | No |
ClinGen gnomAD |
|
|
CA394885080 rs1194197397 |
934 | V>L | No |
ClinGen gnomAD |
|
|
rs1261137516 CA394885051 |
936 | L>M | No |
ClinGen gnomAD |
|
|
CA394885049 rs1261137516 |
936 | L>V | No |
ClinGen gnomAD |
|
|
CA394885036 rs1287329186 |
937 | A>D | No |
ClinGen TOPMed |
|
|
CA394885038 rs1348673801 |
937 | A>T | No |
ClinGen gnomAD |
|
|
rs557260944 CA7925778 |
938 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394885004 rs1342646819 |
940 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7925775 rs775704936 |
940 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342646819 CA394885007 |
940 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1447647728 CA394884992 |
941 | A>T | No |
ClinGen TOPMed |
|
|
CA7925773 rs375592383 |
942 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72653801 CA7925772 |
944 | T>N | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1375496546 CA394884939 |
945 | P>L | No |
ClinGen gnomAD |
|
|
CA394884949 rs1385681357 |
945 | P>T | No |
ClinGen TOPMed |
|
|
rs1422112874 CA394884925 |
947 | C>R | No |
ClinGen gnomAD |
|
|
CA7925769 rs553008971 |
949 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7925766 rs190557767 |
950 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750835224 CA394884900 |
951 | L>F | No |
ClinGen Ensembl |
|
|
rs750835224 CA278636227 |
951 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 952 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394884867 rs1440567256 |
954 | F>S | No |
ClinGen gnomAD |
|
|
CA7925763 rs142377854 |
955 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1199108956 CA394884850 |
955 | L>P | No |
ClinGen gnomAD |
|
|
CA394884799 rs1234706095 |
957 | Q>H | No |
ClinGen gnomAD |
|
|
CA394884804 rs1275962580 |
957 | Q>L | No |
ClinGen gnomAD |
|
|
rs1355567796 CA394884793 |
958 | Q>* | No |
ClinGen gnomAD |
|
|
CA394884773 rs1283030742 |
959 | V>L | No |
ClinGen gnomAD |
|
|
CA7925761 rs781769354 |
960 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987609654 CA278636203 |
961 | S>F | No |
ClinGen TOPMed |
|
|
rs751120477 CA7925759 |
962 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925757 rs765924261 |
962 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs558710437 CA7925756 |
964 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7925754 rs72657691 |
964 | R>Q | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs558710437 CA7925755 |
964 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278636176 rs911801134 |
965 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1283030493 CA394884674 |
965 | G>S | No |
ClinGen TOPMed |
|
|
CA394884592 rs1234589159 |
969 | S>R | No |
ClinGen gnomAD |
|
|
rs966638212 CA278636159 |
969 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776512349 CA7925752 |
970 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768619900 CA7925751 COSM1563230 |
972 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411389399 CA394884534 |
973 | D>N | No |
ClinGen TOPMed |
|
|
rs749463148 CA7925747 |
974 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925748 rs147391297 |
974 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867208251 CA278636115 |
974 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1374853367 CA394884493 |
975 | P>S | No |
ClinGen gnomAD |
|
|
rs1446651699 CA394884469 |
976 | A>E | No |
ClinGen gnomAD |
|
|
CA394884471 rs1310683915 |
976 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7925746 rs778151578 |
977 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs770232227 CA7925745 |
978 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770232227 CA394884438 |
978 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569941928 CA7925743 RCV000489042 |
979 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA394884422 rs1567484535 |
980 | Q>E | No |
ClinGen Ensembl |
|
|
rs755557398 CA7925742 |
980 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394884375 rs757861271 |
982 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757861271 CA7925739 |
982 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394884343 rs1596623182 |
984 | A>T | No |
ClinGen Ensembl |
|
|
rs764901693 CA7925737 |
985 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761565275 CA278636004 |
987 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374113337 CA7925735 |
987 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 987 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761565275 CA7925736 |
987 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 991 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394884269 rs1352055601 |
993 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394884266 rs1430594919 |
993 | L>R | No |
ClinGen TOPMed |
|
|
CA278635936 rs943871750 |
995 | G>D | No |
ClinGen Ensembl |
|
|
CA7925726 rs748500800 |
995 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367317895 CA394884252 |
996 | C>Y | No |
ClinGen gnomAD |
|
|
CA394884247 rs1292041903 |
997 | L>F | No |
ClinGen gnomAD |
|
|
CA7925725 rs777193567 |
998 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1258955298 CA394883414 |
1000 | I>T | No |
ClinGen gnomAD |
|
|
CA7925708 rs773471469 |
1001 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278633284 rs1022928584 |
1002 | L>P | No |
ClinGen Ensembl |
|
|
CA278633280 rs938409574 |
1004 | A>D | No |
ClinGen TOPMed |
|
|
rs1254764915 CA394883385 |
1005 | S>C | No |
ClinGen gnomAD |
|
|
CA7925706 rs762192080 |
1006 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7925707 rs762192080 |
1006 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776995531 CA7925705 |
1008 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925703 rs747365754 |
1009 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1313461574 CA394883358 |
1010 | L>F | No |
ClinGen gnomAD |
|
|
CA394883357 rs776034467 |
1010 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776034467 CA7925702 |
1010 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772505132 CA7925701 |
1012 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150583228 COSM1708789 CA7925700 |
1014 | A>V | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756768329 CA7925699 |
1015 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373863345 CA7925697 |
1015 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7925698 rs756768329 |
1015 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398594452 CA394883332 |
1016 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA278633239 rs908776022 |
1018 | R>K | No |
ClinGen TOPMed |
|
|
rs370805624 COSM1608959 CA278633236 |
1018 | R>S | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1397854994 CA394883306 |
1020 | L>F | No |
ClinGen TOPMed |
|
|
rs952956107 CA278633235 |
1020 | L>P | No |
ClinGen TOPMed |
|
|
rs755895436 CA7925695 |
1021 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs57179857 CA7925694 RCV000952744 |
1022 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394883284 rs1187721063 |
1023 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1025 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254748860 CA394883268 |
1026 | W>* | No |
ClinGen gnomAD |
|
|
rs1179435082 CA394883254 |
1028 | V>M | No |
ClinGen gnomAD |
|
|
CA394883248 rs1458521345 |
1029 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs374451029 CA7925692 |
1030 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374451029 CA7925691 COSM1708788 |
1030 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA278633207 rs998685024 |
1031 | S>C | No |
ClinGen TOPMed |
|
|
CA278633204 rs967636977 |
1032 | P>L | No |
ClinGen TOPMed |
|
|
rs765339542 CA7925690 |
1033 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1253290200 CA394883229 |
1033 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1036 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761996195 CA7925689 |
1036 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754074990 CA7925688 |
1037 | E>K | No |
ClinGen ExAC |
|
|
rs371211631 CA7925686 |
1038 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs897563499 CA278633177 |
1038 | R>W | No |
ClinGen TOPMed |
|
|
rs148064788 CA7925685 |
1040 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7925682 rs759973159 |
1041 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7925683 rs772632852 |
1041 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330357552 CA394883167 |
1043 | H>Y | No |
ClinGen gnomAD |
|
|
CA394883158 rs1421144885 |
1044 | L>P | No |
ClinGen TOPMed |
|
|
CA394883153 rs1392510657 |
1045 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1463864897 CA394883155 |
1045 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7925680 rs574303164 |
1046 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM301608 CA7925679 rs199571237 |
1047 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA394883140 rs1161002650 |
1047 | R>L | No |
ClinGen gnomAD |
|
|
CA394883116 rs1177228808 |
1051 | E>K | No |
ClinGen gnomAD |
|
|
rs769376902 CA7925676 |
1052 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769376902 CA394883107 |
1052 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7925674 rs780915265 CA7925675 |
1053 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394883105 rs1328285046 |
1053 | D>Y | No |
ClinGen TOPMed |
|
|
rs145411106 CA278633143 |
1054 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145411106 CA7925673 |
1054 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759678455 CA278633084 |
1057 | V>A | No |
ClinGen TOPMed |
|
|
rs767588374 CA278633088 |
1057 | V>M | No |
ClinGen gnomAD |
|
|
rs764365055 CA7925668 |
1058 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs760876912 CA7925667 |
1059 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs752972412 CA278633058 |
1060 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752972412 CA7925666 |
1060 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394883063 rs1447101816 |
1060 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394883058 rs1323847028 |
1061 | D>G | No |
ClinGen gnomAD |
|
|
rs377653646 CA394883052 |
1062 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7925665 rs377653646 |
1062 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394883045 rs1476064241 |
1063 | L>V | No |
ClinGen TOPMed |
|
|
CA7925663 rs774796759 |
1064 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774796759 CA278633018 |
1064 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762424228 CA7925661 |
1068 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA394883015 rs1310418153 |
1069 | Y>D | No |
ClinGen gnomAD |
|
|
rs369518454 CA7925659 |
1070 | A>T | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1450027163 CA394882965 |
1074 | L>R | No |
ClinGen gnomAD |
|
|
rs780909519 CA7925657 |
1076 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339178870 CA394882919 |
1077 | S>T | No |
ClinGen TOPMed |
|
|
CA394882908 rs1416993914 |
1078 | L>V | No |
ClinGen TOPMed |
|
|
rs1340252567 CA394882882 |
1079 | V>A | No |
ClinGen TOPMed |
|
|
CA394882890 rs1313809148 |
1079 | V>L | No |
ClinGen TOPMed |
|
|
rs374864191 CA7925656 |
1080 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394882845 rs1487991209 |
1081 | A>V | No |
ClinGen gnomAD |
|
|
rs746841085 CA7925655 |
1082 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925652 rs199637421 |
1084 | T>I | No |
ClinGen gnomAD |
|
|
CA7925651 rs199637421 |
1084 | T>N | No |
ClinGen gnomAD |
|
|
CA7925654 rs780119666 |
1084 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7925648 rs777650741 |
1086 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1299633444 CA394882731 |
1087 | A>V | No |
ClinGen gnomAD |
|
|
CA394882680 rs1400127311 |
1090 | A>D | No |
ClinGen gnomAD |
|
|
CA7925646 rs752816345 |
1091 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767760386 CA7925645 |
1091 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394882626 rs1172291603 |
1094 | L>R | No |
ClinGen gnomAD |
|
|
CA394882595 rs1470432594 |
1096 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7925643 rs60707953 |
1097 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1194619157 CA394882567 |
1097 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1261061440 CA394882556 |
1098 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA278632894 rs377480088 |
1098 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs773773146 CA394882537 |
1099 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925640 rs773773146 |
1099 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925639 rs764594366 |
1100 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755052004 CA7925608 |
1104 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780276741 CA7925606 |
1107 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747176430 CA7925607 |
1107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA394881677 rs1187898860 |
1108 | S>I | No |
ClinGen TOPMed |
|
|
CA7925605 rs758648156 |
1109 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758648156 CA278631696 |
1109 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394881667 rs1239780173 |
1110 | C>Y | No |
ClinGen gnomAD |
|
|
rs1356552892 CA394881618 |
1118 | A>P | No |
ClinGen gnomAD |
|
|
rs1310620190 CA394881613 |
1118 | A>V | No |
ClinGen gnomAD |
|
|
CA394881600 rs1239945982 |
1120 | Y>C | No |
ClinGen gnomAD |
|
|
CA394881572 rs1437392044 |
1125 | S>T | No |
ClinGen gnomAD |
|
|
CA7925595 rs774256027 |
1126 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770766953 CA7925594 |
1127 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925592 rs554806195 |
1129 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394881546 rs1159157272 |
1129 | E>Q | No |
ClinGen gnomAD |
|
|
rs867638337 CA278631513 |
1134 | S>R | No |
ClinGen Ensembl |
|
|
CA394881465 rs1245768823 |
1135 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394881404 rs1485318744 |
1140 | F>L | No |
ClinGen TOPMed |
|
|
rs1184430665 CA394881385 |
1140 | F>L | No |
ClinGen TOPMed |
|
|
rs572351621 CA7925586 |
1141 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7925584 rs767060442 |
1143 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA7925583 rs145553069 |
1144 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278631447 rs921152686 |
1149 | Q>P | No |
ClinGen Ensembl |
|
|
rs751173976 CA7925581 |
1152 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925579 rs762758350 |
1153 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925578 rs553479685 |
1153 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553479685 CA278631420 |
1153 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775707011 CA7925575 |
1154 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925576 rs147794514 |
1154 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1157 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394880453 rs746045818 |
1159 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925572 COSM3701051 rs142128765 |
1163 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs143854720 CA278631353 |
1168 | D>H | No |
ClinGen ESP gnomAD |
|
|
rs1249984461 CA394880203 |
1170 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753771636 CA394880177 |
1172 | A>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3377788 CA7925540 rs753771636 |
1172 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA278630544 rs1047104008 |
1173 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7925537 rs1555508661 |
1173 | A>V | No |
ClinGen Ensembl |
|
|
CA394880157 rs1288065205 |
1174 | N>S | No |
ClinGen TOPMed |
|
|
CA7925536 rs376062004 |
1175 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394880146 rs1489521571 |
1175 | V>M | No |
ClinGen gnomAD |
|
|
rs1245430027 CA394880115 |
1177 | L>V | No |
ClinGen gnomAD |
|
|
rs894945811 CA278630520 |
1179 | G>A | No |
ClinGen TOPMed |
|
|
rs774355343 CA7925535 |
1179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7925534 rs114928628 |
1181 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7925532 rs773579765 |
1183 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA394880040 rs1448176425 |
1183 | V>M | No |
ClinGen TOPMed |
|
|
rs149460452 RCV000428155 CA7925531 |
1186 | A>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149460452 CA394879981 |
1186 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394879965 rs1293676720 |
1187 | A>D | No |
ClinGen gnomAD |
|
|
rs777163389 CA7925529 |
1188 | T>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs572010361 CA7925530 |
1188 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs918539450 CA278630500 |
1189 | C>R | No |
ClinGen TOPMed |
|
|
CA394879943 rs1440735646 |
1189 | C>Y | No |
ClinGen gnomAD |
|
|
rs779472538 CA7925526 |
1190 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1190 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771584027 CA7925525 |
1191 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA278630498 rs201087449 |
1192 | L>P | No |
ClinGen Ensembl |
|
|
CA394879836 rs1457471213 |
1195 | A>V | No |
ClinGen TOPMed |
|
|
rs146284800 CA7925524 |
1196 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778568997 CA7925523 |
1196 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925522 rs114920767 |
1198 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7925521 rs753628351 |
1198 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777757369 CA7925520 |
1199 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA394879783 rs1236608026 |
1199 | A>T | No |
ClinGen gnomAD |
|
|
CA278630455 rs867626759 |
1200 | G>V | No |
ClinGen Ensembl |
|
|
rs752683023 CA394879741 |
1202 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs752683023 CA7925518 COSM967553 |
1202 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394879656 rs1464733728 |
1204 | F>L | No |
ClinGen gnomAD |
|
|
RCV000287492 rs745900279 |
1205 | S>missing | No |
ClinVar dbSNP |
|
|
rs1331420687 CA394879604 |
1206 | V>A | No |
ClinGen TOPMed |
|
|
rs375983928 CA7925515 |
1206 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs763146137 CA7925514 |
1208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394879546 rs1479203324 |
1208 | A>V | No |
ClinGen gnomAD |
|
|
rs750630523 CA7925513 |
1209 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750630523 CA394879540 |
1209 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925511 rs762213485 |
1210 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7925512 rs762213485 |
1210 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925495 rs765483994 |
1212 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA394878942 rs1202640706 |
1214 | Q>H | No |
ClinGen gnomAD |
|
|
RCV000921355 rs764318423 CA7925492 |
1215 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1253335217 CA394878938 |
1215 | T>P | No |
ClinGen TOPMed |
|
|
CA278628857 rs371493792 |
1217 | Q>K | No |
ClinGen Ensembl |
|
|
CA7925490 rs775947674 |
1218 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs114017587 CA7925491 |
1218 | W>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA394878823 rs1173994952 |
1223 | W>* | No |
ClinGen TOPMed |
|
|
rs1450753285 CA394878834 |
1223 | W>R | No |
ClinGen gnomAD |
|
|
CA278628807 rs920811008 |
1224 | T>A | No |
ClinGen TOPMed |
|
|
rs972225942 CA278628803 |
1224 | T>K | No |
ClinGen Ensembl |
|
|
rs770483331 CA7925486 |
1226 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1227 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363292464 CA394878784 |
1228 | N>D | No |
ClinGen Ensembl |
|
|
rs940876455 CA278628782 |
1229 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1328313390 CA394878754 |
1232 | S>L | No |
ClinGen TOPMed |
|
|
CA7925482 rs769432314 |
1233 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs63750402 CA394878738 |
1235 | R>G | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM967549 CA7925479 rs138700741 |
1235 | R>Q | Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7925478 rs745938225 |
1236 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394878724 rs1232557056 |
1237 | Q>R | No |
ClinGen TOPMed |
|
|
rs1252641341 CA394878716 |
1238 | D>V | No |
ClinGen TOPMed |
|
|
rs150145577 CA278628732 |
1240 | A>S | No |
ClinGen ESP gnomAD |
|
|
CA7925476 rs141449320 |
1242 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394878280 rs1489592450 |
1246 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394878287 rs1489592450 |
1246 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772108097 CA7925434 |
1246 | A>V | No |
ClinGen ExAC |
|
|
rs200242428 CA278627661 |
1247 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7925431 rs200242428 |
1247 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16608005 RCV000432182 rs199694536 |
1247 | P>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs199694536 CA7925432 |
1247 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000996230 rs148326870 CA7925430 |
1251 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394878162 rs1344983862 |
1252 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7925429 rs143212758 |
1252 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394878164 rs1344983862 |
1252 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143212758 CA7925428 |
1252 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375647381 CA7925425 |
1254 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750897812 CA7925423 |
1257 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925422 rs576328904 |
1257 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394878023 rs576328904 |
1257 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750897812 CA7925424 |
1257 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394878011 rs761440521 |
1258 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278627609 rs974849688 |
1258 | P>R | No |
ClinGen Ensembl |
|
|
rs761440521 CA7925421 |
1258 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs72664220 | 1259 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001319522 CA7925419 rs149151337 |
1260 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394877922 rs964712550 |
1261 | Q>H | No |
ClinGen TOPMed |
|
|
rs1186406159 CA394877873 |
1264 | Q>H | No |
ClinGen gnomAD |
|
|
CA278627559 rs114175094 |
1265 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771770753 CA394877837 |
1266 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771770753 CA7925415 |
1266 | E>K | Variant assessed as Somatic; 0.0003724 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394877757 rs1308111688 |
1270 | F>S | No |
ClinGen gnomAD |
|
|
CA394877732 rs1296232579 |
1271 | G>E | No |
ClinGen gnomAD |
|
|
CA394877718 rs1359608175 |
1273 | R>G | No |
ClinGen gnomAD |
|
|
rs769820268 CA394877685 |
1274 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995125133 CA278627542 |
1274 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7925411 rs200010958 |
1275 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200010958 CA394877673 |
1275 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7925410 rs759798432 |
1276 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs77913024 CA7925409 |
1279 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1373105392 CA394877611 |
1279 | P>S | No |
ClinGen gnomAD |
|
|
rs1416583834 CA394877580 |
1281 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394877567 rs1184658102 |
1281 | A>V | No |
ClinGen gnomAD |
|
|
CA394877524 rs1374185766 |
1283 | Q>H | No |
ClinGen TOPMed |
|
|
CA7925405 rs779603756 |
1284 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA278627510 rs141731889 |
1285 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753457535 CA7925403 |
1286 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA278627496 rs751910206 |
1288 | K>R | No |
ClinGen Ensembl |
|
|
rs763831330 CA7925402 |
1290 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7925399 rs369871412 |
1291 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394877379 rs1215757817 |
1293 | E>D | No |
ClinGen gnomAD |
|
|
rs767119931 CA7925381 |
1295 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374086268 CA7925379 |
1296 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs63750446 RCV001346317 |
1299 | G>R | No |
ClinVar dbSNP |
|
|
rs63750410 CA7925373 |
1303 | A>T | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1471042293 CA394876030 |
1306 | S>F | No |
ClinGen gnomAD |
|
|
CA394876009 rs1430244169 |
1307 | S>F | No |
ClinGen gnomAD |
|
|
CA394875971 rs1175868176 |
1309 | A>T | No |
ClinGen gnomAD |
|
|
CA394875939 rs771434033 |
1310 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925371 rs771434033 |
1310 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195177013 CA394875912 |
1312 | L>M | No |
ClinGen gnomAD |
|
|
CA394875845 rs1263349169 |
1315 | L>F | No |
ClinGen gnomAD |
|
|
rs1222411509 CA394875821 |
1316 | Q>R | No |
ClinGen gnomAD |
|
|
rs1326218777 CA394875748 |
1319 | A>G | No |
ClinGen gnomAD |
|
|
rs1228722715 CA394875755 |
1319 | A>S | No |
ClinGen gnomAD |
|
|
rs1326218777 CA394875747 COSM177674 |
1319 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1316768903 CA394875746 |
1320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7925366 rs754656944 |
1321 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394875705 rs1336288500 |
1322 | G>E | No |
ClinGen gnomAD |
|
|
CA394875709 rs1407177358 |
1322 | G>R | No |
ClinGen gnomAD |
|
|
rs57499803 CA394875643 |
1326 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA278625481 rs929166866 |
1326 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766105758 CA7925364 |
1326 | D>N | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs57695665 CA7925361 RCV001724195 RCV000955132 |
1327 | G>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7925362 rs79536709 |
1327 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs58902671 CA278625445 |
1330 | I>L | No |
ClinGen Ensembl |
|
|
rs760794410 CA7925360 |
1330 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278625439 rs58902671 |
1330 | I>V | No |
ClinGen Ensembl |
|
|
rs752785718 CA7925359 |
1331 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394875588 rs767636709 |
1332 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925358 rs767636709 |
1332 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925357 CA394875582 rs60320257 |
1332 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767636709 CA394875587 |
1332 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142505247 CA7925356 |
1333 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142505247 CA7925355 |
1333 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA278625367 rs376735995 |
1336 | H>N | No |
ClinGen gnomAD |
|
|
CA7925350 rs780504422 |
1337 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA394875494 rs63750622 |
1339 | R>P | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs28939702 CA7925348 |
1339 | R>S | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs63749800 CA278625334 |
1345 | I>L | No |
ClinGen Ensembl |
|
|
CA278625330 rs63749800 |
1345 | I>V | No |
ClinGen Ensembl |
|
|
CA7925346 rs750243019 |
1346 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394884843 rs1245855633 |
1349 | P>A | No |
ClinGen TOPMed |
|
|
CA394884825 rs1219871914 |
1351 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394884803 rs1260050229 |
1353 | P>S | No |
ClinGen Ensembl |
|
|
CA394884790 rs1327173467 |
1354 | G>D | No |
ClinGen gnomAD |
|
|
rs765472331 CA7925319 |
1355 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs201275608 CA7925318 |
1357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764635677 CA7925317 |
1358 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394884745 rs1159399513 |
1359 | N>T | No |
ClinGen gnomAD |
|
|
CA394884732 rs58695352 |
1361 | D>Y | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA394884709 rs1480460317 |
1364 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394884690 rs771581942 |
1365 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278676813 rs199668617 |
1368 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs60285147 CA7925310 RCV001327113 |
1369 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
CA7925309 rs777835756 |
1370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1215518535 CA394884602 |
1373 | A>E | No |
ClinGen gnomAD |
|
|
rs1463761110 CA394884594 |
1374 | A>D | No |
ClinGen gnomAD |
|
|
CA394884591 rs1463761110 |
1374 | A>V | No |
ClinGen gnomAD |
|
|
rs748103958 CA7925307 |
1376 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs371122482 CA7925306 |
1377 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7925302 rs757540398 |
1383 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754267653 CA7925301 |
1384 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394884498 rs1338245684 |
1385 | A>T | No |
ClinGen gnomAD |
|
|
rs944132085 CA278676798 |
1385 | A>V | No |
ClinGen Ensembl |
|
|
CA7925300 rs764446055 |
1388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1430877583 CA394884457 |
1389 | G>D | No |
ClinGen gnomAD |
|
|
rs775998775 CA7925298 |
1389 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759123370 CA7925295 |
1392 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1393 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7925293 CA278676788 rs63750798 |
1394 | K>N | No |
ClinGen ExAC |
|
|
rs1021172050 CA394884369 |
1397 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7925289 rs202080984 |
1398 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394884334 rs1316729159 |
1401 | D>G | No |
ClinGen gnomAD |
|
|
rs772015821 CA7925286 |
1401 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394884327 rs746009029 |
1402 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7925285 rs746009029 |
1402 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7925254 rs200485267 |
1404 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149510465 CA7925252 |
1406 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1316994507 CA394884081 |
1406 | Q>P | No |
ClinGen gnomAD |
|
|
CA394884082 rs1316994507 |
1406 | Q>R | No |
ClinGen gnomAD |
|
|
rs1287240953 CA394884061 |
1408 | Q>* | No |
ClinGen gnomAD |
|
|
CA7925251 rs761687550 |
1408 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776557438 CA7925250 |
1409 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA394884020 rs1386586320 |
1413 | A>T | No |
ClinGen gnomAD |
|
|
rs1388953241 CA394884015 |
1413 | A>V | No |
ClinGen gnomAD |
|
|
CA7925249 rs760611511 |
1414 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775319351 CA7925247 |
1414 | R>P | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760611511 CA7925248 |
1414 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157100959 CA394884001 |
1415 | A>D | No |
ClinGen gnomAD |
|
|
CA394884003 rs1411488471 |
1415 | A>S | No |
ClinGen gnomAD |
|
|
rs58626288 CA278675361 |
1416 | L>R | No |
ClinGen Ensembl |
|
|
rs1567460585 CA394883986 |
1417 | L>F | No |
ClinGen Ensembl |
|
|
rs1567460585 CA394883988 RCV000722705 |
1417 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1418 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs63751262 CA7925240 |
1418 | R>P | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs59588658 CA7925242 |
1418 | R>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs571678512 CA7925238 |
1420 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1478554 CA278675345 rs549920304 |
1422 | I>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs150230403 CA7925236 |
1425 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7925234 rs756910757 |
1427 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7925233 rs763908026 |
1428 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763908026 CA7925232 |
1428 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1429 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374236964 CA278675327 |
1429 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs1194596001 CA394883907 |
1430 | A>S | No |
ClinGen TOPMed |
|
|
CA394883909 rs1194596001 |
1430 | A>T | No |
ClinGen TOPMed |
|
|
rs760426231 CA7925231 |
1430 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394883903 rs1329851853 |
1431 | A>P | No |
ClinGen gnomAD |
|
|
rs531418668 CA7925229 |
1432 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278675317 rs199950526 |
1434 | P>L | No |
ClinGen 1000Genomes |
|
|
CA7925227 rs773205132 |
1435 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1318741325 CA394883880 |
1435 | G>S | No |
ClinGen gnomAD |
|
|
CA394883870 rs1406846744 |
1436 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394883849 rs1247053094 |
1439 | Q>H | No |
ClinGen gnomAD |
|
|
CA394883852 rs1449802941 |
1439 | Q>R | No |
ClinGen gnomAD |
|
|
rs1301721452 CA394883843 |
1440 | M>T | No |
ClinGen TOPMed |
|
|
CA278675296 rs940980965 |
1441 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394883828 rs1278795080 |
1442 | A>G | No |
ClinGen gnomAD |
|
|
CA394883830 rs1462269230 |
1442 | A>S | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen gnomAD |
|
rs984837642 CA278675292 |
1443 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7925223 rs143822047 |
1443 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394883817 rs1228655033 |
1444 | L>F | No |
ClinGen gnomAD |
|
|
CA394883813 rs1295696777 |
1445 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394883791 rs1333662666 |
1447 | W>C | No |
ClinGen gnomAD |
|
|
rs1383798222 CA394883794 |
1447 | W>S | No |
ClinGen gnomAD |
|
|
CA394883787 rs1412814821 |
1448 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM272295 CA7925221 rs747383956 |
1449 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780599196 CA7925220 |
1452 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1596579802 CA394883735 |
1456 | I>T | No |
ClinGen Ensembl |
|
|
rs759040684 CA7925219 |
1457 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753497739 CA7925216 |
1459 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs57288618 CA7925214 |
1461 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394883707 rs57288618 |
1461 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030872147 CA278675253 |
1461 | R>S | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs752497561 CA7925213 |
1462 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759407080 CA7925211 |
1463 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774296589 CA7925210 |
1464 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394883667 rs1334290831 |
1467 | A>V | No |
ClinGen TOPMed |
|
|
CA7925207 rs776891665 |
1468 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925205 rs761098006 |
1468 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925206 rs761098006 |
1468 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925208 rs776891665 |
1468 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925168 rs767908367 |
1469 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759971821 CA7925167 |
1473 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1434006743 CA394883629 |
1473 | D>N | No |
ClinGen gnomAD |
|
|
rs1415268270 CA394883620 |
1474 | K>T | No |
ClinGen gnomAD |
|
|
CA278675037 rs867720996 COSM1684854 |
1475 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs763316917 CA7925164 |
1479 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs915093936 CA278675018 |
1482 | S>I | No |
ClinGen TOPMed |
|
|
CA394883564 rs1434309178 |
1482 | S>R | No |
ClinGen gnomAD |
|
|
rs63750135 CA394883560 |
1483 | P>Q | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA394883558 rs1488231488 |
1484 | A>T | No |
ClinGen gnomAD |
|
|
rs566671584 CA278675011 |
1485 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs746670054 CA7925158 |
1487 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1490 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394883509 rs1406924984 |
1491 | G>D | No |
ClinGen TOPMed |
|
|
CA7925153 rs778956327 |
1493 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7925152 rs756250178 |
1495 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367035787 CA394883472 |
1497 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752891529 CA7925151 |
1498 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs63750874 CA7925150 |
1501 | G>C | Pseudoxanthoma elasticum (pxe) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362558112 CA394883449 |
1501 | G>D | No |
ClinGen gnomAD |
|
|
rs1304123864 CA394883443 |
1502 | L>P | No |
ClinGen gnomAD |
No associated diseases with O95255
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type glutathione S-conjugate transporter activity | Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATPase-coupled inorganic anion transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP transport | The directed movement of ATP, adenosine triphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| biomineralization | The process where mineral crystals are formed and deposited in an organized fashion in a matrix (either cellular or extracellular) by living organisms. This gives rise to inorganic compound-based structures such as skeleton, teeth, ivory, shells, cuticle, and corals as well as bacterial biomineralization products. |
| calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. |
| cellular phosphate ion homeostasis | Any process involved in the maintenance of an internal steady state of phosphate ions at the level of a cell. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| inorganic diphosphate transport | The directed movement of inorganic diphosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| leukotriene transport | The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups. |
| phosphate ion homeostasis | Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell. |
| response to magnesium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnesium ion stimulus. |
| response to sodium phosphate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sodium phosphate stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P14772 | BPT1 | Bile pigment transporter 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8HXQ5 | ABCC1 | Multidrug resistance-associated protein 1 | Bos taurus (Bovine) | PR |
| Q2QLE5 | CFTR | Cystic fibrosis transmembrane conductance regulator | Pan troglodytes (Chimpanzee) | PR |
| P91660 | Rh5 | Probable multidrug resistance-associated protein lethal(2)03659 | Drosophila melanogaster (Fruit fly) | PR |
| O15438 | ABCC3 | ATP-binding cassette sub-family C member 3 | Homo sapiens (Human) | PR |
| Q92887 | ABCC2 | ATP-binding cassette sub-family C member 2 | Homo sapiens (Human) | SS |
| P33527 | ABCC1 | Multidrug resistance-associated protein 1 | Homo sapiens (Human) | PR |
| Q96J66 | ABCC11 | ATP-binding cassette sub-family C member 11 | Homo sapiens (Human) | PR |
| P13569 | CFTR | Cystic fibrosis transmembrane conductance regulator | Homo sapiens (Human) | PR |
| O15439 | ABCC4 | ATP-binding cassette sub-family C member 4 | Homo sapiens (Human) | PR |
| B2RX12 | Abcc3 | ATP-binding cassette sub-family C member 3 | Mus musculus (Mouse) | PR |
| P26361 | Cftr | Cystic fibrosis transmembrane conductance regulator | Mus musculus (Mouse) | PR |
| Q80WJ6 | Abcc12 | ATP-binding cassette sub-family C member 12 | Mus musculus (Mouse) | PR |
| O35379 | Abcc1 | Multidrug resistance-associated protein 1 | Mus musculus (Mouse) | PR |
| Q8VI47 | Abcc2 | ATP-binding cassette sub-family C member 2 | Mus musculus (Mouse) | SS |
| Q6PQZ2 | CFTR | Cystic fibrosis transmembrane conductance regulator | Sus scrofa (Pig) | PR |
| Q6Y306 | Abcc12 | ATP-binding cassette sub-family C member 12 | Rattus norvegicus (Rat) | PR |
| Q8CG09 | Abcc1 | Multidrug resistance-associated protein 1 | Rattus norvegicus (Rat) | PR |
| Q63120 | Abcc2 | ATP-binding cassette sub-family C member 2 | Rattus norvegicus (Rat) | EV |
| Q00553 | CFTR | Cystic fibrosis transmembrane conductance regulator | Macaca mulatta (Rhesus macaque) | PR |
| Q9SKX0 | ABCC13 | ABC transporter C family member 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZZ4 | ABCC6 | ABC transporter C family member 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1C7 | ABCC9 | ABC transporter C family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8G9 | ABCC1 | ABC transporter C family member 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8H0 | ABCC12 | ABC transporter C family member 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPAEPCAG | QGVWNQTEPE | PAATSLLSLC | FLRTAGVWVP | PMYLWVLGPI | YLLFIHHHGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GYLRMSPLFK | AKMVLGFALI | VLCTSSVAVA | LWKIQQGTPE | APEFLIHPTV | WLTTMSFAVF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIHTERKKGV | QSSGVLFGYW | LLCFVLPATN | AAQQASGAGF | QSDPVRHLST | YLCLSLVVAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVLSCLADQP | PFFPEDPQQS | NPCPETGAAF | PSKATFWWVS | GLVWRGYRRP | LRPKDLWSLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RENSSEELVS | RLEKEWMRNR | SAARRHNKAI | AFKRKGGSGM | KAPETEPFLR | QEGSQWRPLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KAIWQVFHST | FLLGTLSLII | SDVFRFTVPK | LLSLFLEFIG | DPKPPAWKGY | LLAVLMFLSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CLQTLFEQQN | MYRLKVLQMR | LRSAITGLVY | RKVLALSSGS | RKASAVGDVV | NLVSVDVQRL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TESVLYLNGL | WLPLVWIVVC | FVYLWQLLGP | SALTAIAVFL | SLLPLNFFIS | KKRNHHQEEQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MRQKDSRARL | TSSILRNSKT | IKFHGWEGAF | LDRVLGIRGQ | ELGALRTSGL | LFSVSLVSFQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VSTFLVALVV | FAVHTLVAEN | AMNAEKAFVT | LTVLNILNKA | QAFLPFSIHS | LVQARVSFDR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LVTFLCLEEV | DPGVVDSSSS | GSAAGKDCIT | IHSATFAWSQ | ESPPCLHRIN | LTVPQGCLLA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VVGPVGAGKS | SLLSALLGEL | SKVEGFVSIE | GAVAYVPQEA | WVQNTSVVEN | VCFGQELDPP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WLERVLEACA | LQPDVDSFPE | GIHTSIGEQG | MNLSGGQKQR | LSLARAVYRK | AAVYLLDDPL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AALDAHVGQH | VFNQVIGPGG | LLQGTTRILV | THALHILPQA | DWIIVLANGA | IAEMGSYQEL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LQRKGALMCL | LDQARQPGDR | GEGETEPGTS | TKDPRGTSAG | RRPELRRERS | IKSVPEKDRT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TSEAQTEVPL | DDPDRAGWPA | GKDSIQYGRV | KATVHLAYLR | AVGTPLCLYA | LFLFLCQQVA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SFCRGYWLSL | WADDPAVGGQ | QTQAALRGGI | FGLLGCLQAI | GLFASMAAVL | LGGARASRLL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FQRLLWDVVR | SPISFFERTP | IGHLLNRFSK | ETDTVDVDIP | DKLRSLLMYA | FGLLEVSLVV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AVATPLATVA | ILPLFLLYAG | FQSLYVVSSC | QLRRLESASY | SSVCSHMAET | FQGSTVVRAF |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RTQAPFVAQN | NARVDESQRI | SFPRLVADRW | LAANVELLGN | GLVFAAATCA | VLSKAHLSAG |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LVGFSVSAAL | QVTQTLQWVV | RNWTDLENSI | VSVERMQDYA | WTPKEAPWRL | PTCAAQPPWP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QGGQIEFRDF | GLRYRPELPL | AVQGVSFKIH | AGEKVGIVGR | TGAGKSSLAS | GLLRLQEAAE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| GGIWIDGVPI | AHVGLHTLRS | RISIIPQDPI | LFPGSLRMNL | DLLQEHSDEA | IWAALETVQL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| KALVASLPGQ | LQYKCADRGE | DLSVGQKQLL | CLARALLRKT | QILILDEATA | AVDPGTELQM |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QAMLGSWFAQ | CTVLLIAHRL | RSVMDCARVL | VMDKGQVAES | GSPAQLLAQK | GLFYRLAQES |
| GLV |