Q8NBS3
PR
Gene name |
SLC4A11 (BTR1) |
Protein name |
Solute carrier family 4 member 11 |
Names |
Sodium borate cotransporter 1, NaBC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83959 |
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 Q8NBS3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7X1G | EM | 294 A | A/B | 15-875 | PDB |
| 7X1H | EM | 296 A | A/B | 15-875 | PDB |
| 7X1I | EM | 294 A | A/B | 15-875 | PDB |
| 7X1J | EM | 284 A | A/B | 15-875 | PDB |
| AF-Q8NBS3-F1 | Predicted | AlphaFoldDB |
733 variants for Q8NBS3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2068078358 RCV001331788 |
7 | R>L | Corneal dystrophy, Fuchs endothelial, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001385 rs1600618680 RCV001851539 |
18 | P>missing | Corneal dystrophy, Fuchs endothelial, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749897720 RCV002520011 RCV000350657 CA9742444 |
30 | S>I | Corneal dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001139378 CA9742419 rs371191159 RCV002556970 |
70 | N>S | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556969 CA9742373 rs145115400 RCV001139377 |
84 | A>V | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9742369 RCV001139376 rs781159564 |
87 | G>S | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs869320720 RCV000001371 |
102 | K>missing | Congenital hereditary endothelial dystrophy of cornea [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9742332 rs773078769 RCV000326580 |
108 | I>V | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA408094235 rs1276051624 VAR_063713 |
109 | R>H | CHED; does not facilitate water flux across the plasma membrane; decreases proton flux with or without cotransport of ammonia; does not affect protein processing [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA9742317 COSM1025942 RCV002556915 RCV001137140 rs148613811 COSM1025943 |
124 | V>I | Corneal dystrophy large_intestine endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA408093957 VAR_067272 rs1482631297 |
127 | E>K | CHED; affects protein processing; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001275547 VAR_034944 CA9742308 RCV001287971 rs34520315 RCV000953103 |
134 | N>S | Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs773524307 RCV000271561 CA9742303 |
137 | R>W | Variant assessed as Somatic; 0.0 impact. Corneal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs869320721 RCV000001375 RCV001381401 |
142 | R>missing | Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045107 RCV002460964 RCV000190625 |
142 | R>missing | Congenital hereditary endothelial dystrophy of cornea [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1737813 CA9742292 rs752287261 RCV000490343 VAR_034945 RCV002517443 COSM1737814 |
144 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system Congenital hereditary endothelial dystrophy of cornea CHED [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202002249 RCV001137138 RCV002558302 CA9742288 |
150 | N>S | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_064422 CA9742286 RCV001143692 RCV002557061 rs141836046 |
151 | E>D | Corneal dystrophy FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA9742284 rs748474270 RCV001143691 |
157 | D>G | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002523157 RCV000320772 rs149016022 CA9742267 |
172 | R>Q | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001834011 RCV001232217 rs762596098 |
192 | V>missing | Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs566507872 CA9742229 VAR_064978 |
193 | R>W | CHED [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
VAR_064979 CA9742224 rs759667344 |
197 | S>L | CHED [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000001382 rs121909395 CA114922 VAR_034946 |
197 | S>P | Corneal dystrophy-perceptive deafness syndrome CDPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA408092917 rs1224728455 RCV001143689 |
204 | T>I | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs772277691 RCV000305479 CA9742188 |
211 | R>W | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_064980 rs762942751 CA9742182 |
217 | R>C | CHED [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA408092637 VAR_075537 rs746532062 |
224 | W>S | FECD4; decreases cell surface expression; abolishes functional activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs886056633 CA10643720 RCV000259607 |
231 | V>I | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1532967 COSM1532968 rs1298347142 VAR_063714 CA408091398 |
253 | A>V | lung Variant assessed as Somatic; impact. CHED; affects protein processing and transport to the cell surface [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
| VAR_064423 | 266 | R>P | FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm [UniProt] | Yes | UniProt |
|
rs146274937 CA9742107 RCV001141893 |
295 | G>S | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141705330 RCV001828336 RCV000299854 CA9742103 RCV000513030 RCV001287969 |
298 | A>V | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001273537 RCV000880934 RCV001141891 CA9742042 rs112163941 |
331 | R>Q | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000405160 RCV000887947 CA9742043 RCV001579134 RCV001272054 rs138137682 |
331 | R>W | Corneal dystrophy Congenital hereditary endothelial dystrophy of cornea Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370322948 RCV002550650 CA9742004 RCV001139273 RCV001273535 RCV000992989 |
350 | I>T | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001858402 RCV000825571 CA408089201 RCV001835982 rs1363770105 |
370 | C>* | Congenital hereditary endothelial dystrophy of cornea Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_063715 | 370 | C>R | CHED; affects protein processing; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant [UniProt] | Yes | UniProt |
|
CA9741985 rs780171125 CA9741986 VAR_064981 |
378 | G>R | Variant assessed as Somatic; 0.0 impact. CHED [NCI-TCGA, UniProt] | Yes |
ClinGen ExAC TOPMed gnomAD UniProt NCI-TCGA dbSNP |
|
CA114930 RCV000001386 rs267607065 VAR_047809 |
383 | E>K | Corneal dystrophy, fuchs endothelial, 4 (fecd4) Corneal dystrophy, Fuchs endothelial, 4 FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
| VAR_064982 | 385 | T>K | CHED [UniProt] | Yes | UniProt |
|
RCV001865231 RCV000312892 rs532348574 CA10652429 |
387 | G>R | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
| VAR_064983 | 402 | G>D | CHED [UniProt] | Yes | UniProt |
| VAR_075538 | 418 | T>I | FECD4; decreases cell surface expression; highly reduces functional activity [UniProt] | Yes | UniProt |
|
CA9741937 rs376120280 RCV001137025 COSM1532976 COSM1532975 |
420 | A>T | lung Corneal dystrophy Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000001376 rs869320722 |
444 | Y>T | Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909389 CA250437 RCV000001369 VAR_030662 |
448 | G>D | Congenital hereditary endothelial dystrophy of cornea CHED; affects protein processing and transport to the cell surface [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_064984 | 457 | L>R | CHED [UniProt] | Yes | UniProt |
|
rs121909393 VAR_034947 RCV000001377 CA114916 |
472 | R>K | Corneal dystrophy-perceptive deafness syndrome CDPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000001368 VAR_030663 RCV001851538 rs121909388 CA250435 |
473 | S>L | Variant assessed as Somatic; 0.0 impact. Congenital hereditary endothelial dystrophy of cornea CHED; affects protein processing and transport to the cell surface [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
COSM1226431 rs768052263 COSM1226430 RCV001137022 CA9741845 |
474 | T>M | Corneal dystrophy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9741837 rs532728316 VAR_075539 |
491 | V>I | FECD4; slightly decreases cell surface expression; reduces [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_064424 CA9741799 rs150571742 |
510 | Y>C | FECD4; does not interfere with post-translational processing; the mutant protein partially localizes to the cytoplasm [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002505717 CA9741771 rs755379986 RCV001143598 VAR_047810 |
545 | T>M | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs144734280 CA9741761 VAR_064425 |
559 | V>M | FECD4; does not interfere with post-translational processing; the mutant protein partially localizes to the cytoplasm [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9741754 VAR_064426 rs139078082 RCV001805940 RCV001143597 RCV000938883 |
567 | G>D | Corneal dystrophy FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_064985 | 568 | T>K | CHED [UniProt] | Yes | UniProt |
|
RCV001273531 RCV000001370 CA250439 rs121909390 RCV000815081 |
589 | R>* | Congenital hereditary endothelial dystrophy of cornea Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138262189 CA9741718 RCV002559374 RCV001844269 RCV002480528 RCV001141792 |
603 | A>T | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs751797233 RCV000279308 RCV002487495 CA9741679 |
621 | R>H | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9741656 RCV000323809 RCV001861165 rs762735932 |
654 | M>V | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9741646 rs749826950 VAR_074015 |
659 | E>A | CHED [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA9741640 RCV001139169 rs751718398 |
671 | E>K | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9741595 rs748362724 RCV000625921 |
688 | A>T | Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000001383 rs267607064 CA114924 VAR_047812 |
693 | G>E | Corneal dystrophy, fuchs endothelial, 4 (fecd4) Corneal dystrophy, Fuchs endothelial, 4 FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001828876 RCV002484292 rs772409032 COSM3423591 COSM3423592 CA9741579 RCV001235975 |
714 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine Corneal dystrophy-perceptive deafness syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs143965185 RCV000992991 RCV002505507 RCV001273527 VAR_064427 RCV001139166 CA9741568 |
726 | G>R | Corneal dystrophy Corneal dystrophy-perceptive deafness syndrome FECD4; interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002281686 VAR_047813 CA114927 RCV000001384 rs267607066 |
738 | T>M | Corneal dystrophy, fuchs endothelial, 4 (fecd4) Corneal dystrophy, Fuchs endothelial, 4 FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001136922 rs121909387 |
739 | R>L | Corneal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA250433 rs121909387 RCV000001367 RCV001851537 VAR_030664 |
739 | R>Q | Congenital hereditary endothelial dystrophy of cornea CHED; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED mutant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA310985463 RCV000804411 VAR_063716 RCV001825591 rs757553189 |
739 | R>W | Corneal dystrophy-perceptive deafness syndrome CHED; affects protein processing and folding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA408086238 VAR_063717 rs1465111896 |
757 | P>L | CHED [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs2067626997 RCV001136921 |
762 | W>C | Corneal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9741498 VAR_034948 rs766567944 |
788 | R>H | Variant assessed as Somatic; 0.0 impact. CHED [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000307171 rs145325200 CA9741495 |
789 | V>M | Variant assessed as Somatic; 0.0 impact. Corneal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_034949 rs757244518 CA9741459 |
808 | V>M | CHED; deafness not assessed [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA408085094 rs1422526172 VAR_034950 |
817 | T>M | CHED [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
VAR_064428 CA9741455 rs144586846 |
818 | G>S | FECD4; does not interfere with post-translational processing; the mutant protein partially localizes to the cytoplasm [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909394 RCV000595591 RCV002490290 VAR_034951 CA114920 RCV000001379 |
827 | L>P | Corneal dystrophy-perceptive deafness syndrome CDPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001143497 RCV000948021 VAR_034952 RCV000991066 rs34224785 RCV002265913 CA9741449 RCV001276999 |
832 | M>I | Corneal dystrophy Posterior polymorphous corneal dystrophy 1 Corneal dystrophy-perceptive deafness syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000001378 VAR_034953 CA114918 rs121909396 |
840 | M>V | Corneal dystrophy-perceptive deafness syndrome CDPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA10649519 RCV000405940 rs886056631 |
852 | I>V | Corneal dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121909391 RCV000001372 VAR_030665 RCV001682704 CA250442 |
853 | R>C | Congenital hereditary endothelial dystrophy of cornea CHED; affects protein processing and transport to the cell surface [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001389004 VAR_034954 RCV000001374 CA250444 rs121909392 |
853 | R>H | Congenital hereditary endothelial dystrophy of cornea CHED [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_063718 | 857 | L>P | CHED [UniProt] | Yes | UniProt |
|
CA310941226 rs904727822 |
2 | A>T | No |
ClinGen Ensembl |
|
|
CA408065847 rs1219937134 |
3 | A>G | No |
ClinGen Ensembl |
|
|
rs1568549986 CA408065831 |
4 | A>V | No |
ClinGen Ensembl |
|
|
rs948863062 CA310941221 |
5 | T>S | No |
ClinGen gnomAD |
|
|
CA310941218 rs961012210 |
6 | R>G | No |
ClinGen TOPMed |
|
|
rs1198271102 CA408065804 |
7 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA310941212 rs993292979 |
9 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408065729 rs1422854515 |
13 | P>Q | No |
ClinGen gnomAD |
|
|
CA408065733 rs1168780906 |
13 | P>T | No |
ClinGen gnomAD |
|
|
rs1005252214 CA310941204 |
14 | C>R | No |
ClinGen TOPMed |
|
|
rs1463493866 CA408065705 |
15 | E>K | No |
ClinGen TOPMed |
|
|
CA9742480 rs755159680 |
16 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408064750 rs1213236168 |
18 | P>A | No |
ClinGen gnomAD |
|
|
rs1367764725 CA408064741 |
19 | T>I | No |
ClinGen gnomAD |
|
|
rs1452493585 CA408064733 |
20 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1368426300 CA408064739 |
20 | M>V | No |
ClinGen TOPMed |
|
|
RCV001211764 CA9742476 rs751587806 |
21 | S>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs751587806 CA9742477 |
21 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742478 rs780336153 |
21 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758149180 CA9742474 |
25 | Y>C | No |
ClinGen ExAC |
|
|
rs375415674 CA9742471 |
27 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391746184 CA408064683 |
28 | D>N | No |
ClinGen gnomAD |
|
|
rs749897720 CA408096973 |
30 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767919855 CA9742443 |
31 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1458732831 CA408096921 |
33 | K>E | No |
ClinGen TOPMed |
|
|
CA310994880 rs956666896 |
33 | K>R | No |
ClinGen Ensembl |
|
|
rs1358838665 CA408096904 |
34 | C>R | No |
ClinGen TOPMed |
|
|
rs1401950422 CA408096891 |
34 | C>W | No |
ClinGen TOPMed |
|
|
rs1302764776 CA408096867 |
36 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs762438034 CA9742442 |
36 | T>P | No |
ClinGen ExAC gnomAD |
|
|
COSM478032 CA408096799 COSM478031 rs1600603573 |
40 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1458299426 CA408096771 |
41 | E>A | No |
ClinGen gnomAD |
|
|
rs369690019 CA9742439 |
41 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408096742 COSM1226429 rs1362719565 COSM1226428 |
43 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1362719565 CA408096745 |
43 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs558977913 CA9742438 |
43 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408096661 rs1412322688 |
48 | G>E | No |
ClinGen gnomAD |
|
|
rs776796677 CA9742436 |
49 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776796677 CA9742435 |
49 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600603363 CA408096607 |
51 | A>V | No |
ClinGen Ensembl |
|
|
rs1258835514 CA408096574 |
53 | D>E | No |
ClinGen TOPMed |
|
|
CA9742433 rs748184113 |
53 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408096567 rs1210973842 |
54 | T>A | No |
ClinGen gnomAD |
|
|
CA408096545 rs1485790566 |
55 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9742432 rs778688114 |
56 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_047806 CA310994860 rs778688114 |
56 | N>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs372557411 CA9742431 |
57 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600603226 CA408096520 |
57 | S>P | No |
ClinGen Ensembl |
|
|
CA310994852 rs963083909 |
58 | S>F | No |
ClinGen TOPMed |
|
|
rs1600603187 CA408096511 |
58 | S>P | No |
ClinGen Ensembl |
|
|
COSM1025949 rs779715814 CA9742429 COSM1025948 |
60 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750060652 CA9742427 |
63 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310994839 rs750060652 |
63 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408096413 rs1600603043 |
64 | S>T | No |
ClinGen Ensembl |
|
|
CA408096393 rs1464603826 |
65 | I>T | No |
ClinGen TOPMed |
|
|
CA9742426 rs202195929 |
66 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9742424 rs200106947 |
66 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742423 rs200106947 |
66 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742425 rs202195929 |
66 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375539790 CA310994828 |
68 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs763440662 CA408096331 |
69 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs763440662 CA9742422 |
69 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs371191159 CA9742420 |
70 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9742418 rs776714290 |
71 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776714290 CA408096283 |
71 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408096297 rs1458397216 |
71 | V>I | No |
ClinGen gnomAD |
|
|
CA9742417 rs565360359 |
72 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1200106226 CA408096183 |
75 | M>R | No |
ClinGen gnomAD |
|
|
CA9742415 rs200940928 VAR_047807 |
75 | M>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs768440795 CA9742414 |
77 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749089243 CA9742413 |
77 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755896335 CA9742411 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756813814 CA9742407 |
79 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs780682430 CA9742408 |
79 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9742409 rs780682430 |
79 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389583119 CA408096118 |
80 | T>S | No |
ClinGen Ensembl |
|
|
rs764665429 CA9742406 |
81 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742405 rs764665429 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341748857 CA408095992 |
82 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1291060584 CA408095986 |
82 | N>S | No |
ClinGen Ensembl |
|
|
CA310994731 rs918595763 |
83 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408095895 rs1600601456 |
85 | T>I | No |
ClinGen Ensembl |
|
|
rs770744984 CA9742371 |
85 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1168495837 CA408095882 |
86 | S>F | No |
ClinGen TOPMed |
|
|
CA408095859 rs1306554403 |
87 | G>D | No |
ClinGen gnomAD |
|
|
CA408095851 rs1393556675 |
88 | G>S | No |
ClinGen gnomAD |
|
|
CA408095817 rs1226494994 |
89 | C>F | No |
ClinGen gnomAD |
|
|
rs1227399565 COSM1411226 CA408095736 COSM1411227 |
93 | H>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9742365 rs755478306 |
94 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9742364 rs780346984 |
96 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1025946 COSM1025947 CA9742362 rs139524164 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568542425 CA408095653 |
97 | K>R | No |
ClinGen Ensembl |
|
|
rs758475282 CA9742336 |
99 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA408094390 rs1253594669 |
100 | K>N | No |
ClinGen gnomAD |
|
|
rs766291568 CA9742334 |
103 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760420079 CA9742333 |
106 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs767292863 CA9742331 |
109 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761618167 CA9742330 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748778995 CA9742327 |
112 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9742326 rs555736112 |
112 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370126765 CA9742324 |
115 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9742323 rs201619917 |
116 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9742321 rs747272738 |
119 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395406988 CA408094061 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA9742319 rs758431963 |
121 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310994542 rs34028713 |
122 | S>N | No |
ClinGen Ensembl |
|
|
rs890052453 CA310994540 |
123 | I>F | No |
ClinGen Ensembl |
|
|
COSM1713107 CA408093953 COSM1713108 rs1482631297 |
127 | E>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408093955 rs1482631297 |
127 | E>Q | No |
ClinGen gnomAD |
|
|
CA9742314 rs200591420 |
128 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751274885 CA9742312 |
130 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775005667 CA9742309 |
134 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373563306 CA9742307 |
134 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053242342 CA310994522 |
135 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773524307 CA9742304 |
137 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3423593 COSM3423594 CA9742302 rs772271724 |
137 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408093790 rs1177833115 |
138 | T>A | No |
ClinGen TOPMed |
|
|
rs376012711 CA9742301 |
138 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755108289 COSM4134459 COSM4134458 CA9742299 |
141 | R>C | thyroid Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs146233650 COSM1411225 CA9742298 COSM1411224 |
141 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146233650 CA408093732 |
141 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742297 rs201317086 |
142 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751298338 CA9742295 |
142 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742296 rs751298338 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742293 rs762722278 |
143 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs3827075 CA408093672 |
145 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742291 rs3827075 |
145 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320016962 CA408093652 |
146 | D>H | No |
ClinGen gnomAD |
|
|
rs1251613187 CA408093634 |
147 | P>A | No |
ClinGen TOPMed |
|
|
CA310994479 rs145060698 |
148 | D>Y | No |
ClinGen ESP |
|
|
rs777145704 CA9742289 |
149 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372137869 CA408093527 |
153 | N>D | No |
ClinGen gnomAD |
|
|
rs369976845 CA9742285 |
153 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049714081 CA310994472 |
154 | C>Y | No |
ClinGen TOPMed |
|
|
rs368624286 CA9742282 |
160 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9742281 rs768876469 |
161 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9742280 rs190362136 |
162 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742279 rs190362136 |
162 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1016651918 CA310994450 |
166 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM1411221 rs990142958 COSM1411220 CA310994445 |
168 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758097933 CA408093420 |
169 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758097933 CA9742275 |
169 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742273 rs764821934 |
170 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752442906 CA9742274 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9742271 rs753279693 |
171 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9742269 rs149016022 |
172 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742268 rs149016022 |
172 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200372280 CA9742270 |
172 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9742266 rs762030562 |
173 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs373226684 CA310994425 |
175 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA9742241 rs771838131 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201560423 CA9742240 |
179 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs936938634 CA310994366 |
180 | D>G | No |
ClinGen TOPMed |
|
|
rs1600596319 CA408093343 |
181 | T>P | No |
ClinGen Ensembl |
|
|
CA310994363 rs939276523 |
182 | I>V | No |
ClinGen Ensembl |
|
|
rs1600596161 CA408093274 |
186 | T>P | No |
ClinGen Ensembl |
|
|
rs1326467127 CA408093259 COSM1411218 COSM1411219 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
RCV001243156 rs763953036 |
188 | T>missing | No |
ClinVar dbSNP |
|
|
CA310994354 rs147961050 |
188 | T>I | No |
ClinGen ESP |
|
|
CA9742233 rs1555779120 |
189 | V>L | No |
ClinGen Ensembl |
|
|
rs749832583 CA9742232 |
190 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1420975859 CA408093195 |
191 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408093181 rs1350514016 |
192 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408093185 rs781727797 |
192 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9742230 rs781727797 |
192 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764591657 CA9742227 |
193 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752989861 CA9742225 |
196 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA408093115 rs1227971363 |
196 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9742222 rs771031288 |
202 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746477170 CA9742193 |
203 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408092902 rs1273603905 |
205 | M>I | No |
ClinGen gnomAD |
|
|
CA9742191 rs748653831 CA408092912 |
205 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748653831 CA9742190 |
205 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446025623 CA408092887 |
206 | K>R | No |
ClinGen TOPMed |
|
|
CA408092880 rs1371829659 |
207 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408092870 rs1320054294 |
207 | A>V | No |
ClinGen gnomAD |
|
|
CA408092862 rs1432978667 |
208 | L>P | No |
ClinGen gnomAD |
|
|
CA408092852 RCV001046348 rs1568539930 |
209 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9742187 rs754060213 |
211 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408092801 rs750441626 |
212 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767568042 CA9742183 |
213 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310994205 rs768857896 |
214 | C>R | No |
ClinGen Ensembl |
|
|
CA408092767 rs1253542026 |
215 | I>F | No |
ClinGen gnomAD |
|
|
rs199724748 CA310994201 |
217 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199724748 CA9742181 |
217 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216003603 CA408092715 |
219 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147786721 CA9742179 |
220 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776178046 CA9742178 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs984388511 CA310994194 |
221 | P>S | No |
ClinGen TOPMed |
|
|
rs772916997 CA408092631 |
224 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA408092639 rs746532062 |
224 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000806080 CA915953044 rs1600592887 |
224 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9742175 rs772916997 |
224 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9742176 rs746532062 |
224 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742174 rs368827609 |
225 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201660888 CA9742172 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408092557 rs1310914572 |
229 | C>F | No |
ClinGen gnomAD |
|
|
CA408092538 CA9742170 rs749629158 |
230 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420956301 CA408092517 |
232 | R>Q | No |
ClinGen gnomAD |
|
|
CA9742168 rs139459876 |
232 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310994177 rs534047070 |
235 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA408092494 rs1159755059 |
236 | L>V | No |
ClinGen TOPMed |
|
|
CA408092448 rs1401738889 |
243 | M>R | No |
ClinGen TOPMed |
|
|
CA408092452 rs1410807709 |
243 | M>V | No |
ClinGen TOPMed |
|
|
CA310991214 rs866808066 |
245 | S>T | No |
ClinGen Ensembl |
|
|
rs1221794778 CA408091535 |
246 | T>I | No |
ClinGen gnomAD |
|
|
rs771135532 CA9742124 |
249 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408091452 rs935927562 |
250 | M>K | No |
ClinGen gnomAD |
|
|
rs935927562 CA310991198 |
250 | M>T | No |
ClinGen gnomAD |
|
|
rs777948446 CA9742122 |
254 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408091371 rs1191074716 RCV001060953 |
255 | T>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA408091335 rs1340752579 |
258 | T>S | No |
ClinGen TOPMed |
|
|
CA9742120 rs753882166 |
261 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310991167 rs980360267 |
262 | D>N | No |
ClinGen gnomAD |
|
|
CA9742118 rs755975298 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA310991153 rs917013239 |
264 | A>T | No |
ClinGen gnomAD |
|
|
rs767296648 CA9742116 |
265 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs761571805 CA9742115 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751170291 CA9742114 |
266 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1387512730 CA408091070 |
271 | E>D | No |
ClinGen gnomAD |
|
|
CA408091055 rs1247599486 |
272 | T>I | No |
ClinGen TOPMed |
|
|
rs185463872 CA9742111 |
273 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371682087 CA9742110 |
273 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408090945 rs1452077978 |
277 | E>D | No |
ClinGen Ensembl |
|
|
CA408090961 rs1175985323 |
277 | E>K | No |
ClinGen gnomAD |
|
|
rs1027333592 CA310991109 |
281 | A>G | No |
ClinGen gnomAD |
|
|
CA310991100 rs139384190 |
284 | H>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9742108 rs777029299 |
284 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1392682779 CA408090799 |
285 | Q>* | No |
ClinGen TOPMed |
|
|
rs1464479252 CA408090792 |
285 | Q>P | No |
ClinGen gnomAD |
|
|
rs1405693622 CA408090750 |
288 | L>P | No |
ClinGen TOPMed |
|
|
CA408090721 rs1259956301 |
291 | M>V | No |
ClinGen gnomAD |
|
|
rs973038358 CA310991098 |
294 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408090675 rs1207066836 |
294 | H>R | No |
ClinGen gnomAD |
|
|
CA9742105 rs200056974 |
296 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9742106 rs747322126 |
296 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs536125313 CA9742104 |
297 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9742101 rs376126165 |
299 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385220955 CA408090615 |
300 | R>G | No |
ClinGen gnomAD |
|
|
CA9742099 rs139941321 |
301 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751241049 CA9742097 |
302 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA310991041 rs894714346 |
302 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408090560 rs757935850 |
304 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408090561 rs757935850 |
304 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742094 rs752155171 COSM1025939 COSM1025938 |
304 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9742095 rs757935850 |
304 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144285319 CA9742092 |
306 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766823176 CA9742089 |
309 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310990965 rs949955643 |
309 | L>R | No |
ClinGen Ensembl |
|
|
rs760889152 CA408090470 |
311 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_047808 CA9742088 rs760889152 |
311 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA310990937 rs929013659 |
312 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408090457 rs929013659 |
312 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1386174479 CA408090465 |
312 | H>Y | No |
ClinGen TOPMed |
|
|
rs773485067 CA9742087 |
313 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs973208593 CA310990924 |
315 | P>R | No |
ClinGen TOPMed |
|
|
CA310990927 rs917084145 |
315 | P>S | No |
ClinGen Ensembl |
|
|
rs1228959374 CA408090413 |
316 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9742056 COSM1532972 COSM1532971 rs546282306 |
317 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9742057 rs546282306 |
317 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780629889 CA9742054 |
318 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408089656 rs1483916278 |
318 | P>S | No |
ClinGen TOPMed |
|
|
rs762214716 CA9742049 |
319 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA9742050 rs762214716 |
319 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408089639 rs1266395472 |
320 | C>R | No |
ClinGen TOPMed |
|
|
rs751839226 CA9742048 |
323 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs374803244 CA310990651 |
326 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742047 rs764374612 |
326 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA408089528 rs1370904541 |
328 | K>N | No |
ClinGen gnomAD |
|
|
CA9742045 rs376623977 |
329 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769886663 CA9742044 |
330 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9742041 rs200404341 |
334 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299165054 CA408089458 |
334 | I>V | No |
ClinGen TOPMed |
|
|
rs141426484 CA9742039 |
335 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141426484 CA9742038 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9742037 rs748944872 |
336 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9742036 rs773292136 |
336 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA310990561 rs773292136 |
336 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408089434 rs1272408191 |
337 | R>G | No |
ClinGen TOPMed |
|
|
CA9742035 rs755642608 |
339 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs190463957 CA408089409 |
340 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868600314 CA310990548 |
346 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1359667524 CA408089308 |
353 | N>S | No |
ClinGen gnomAD |
|
|
CA9742002 rs766420892 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408089300 rs766420892 |
354 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193874864 CA408089286 |
356 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774263606 CA9742000 |
357 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408089276 rs1293717533 |
358 | K>R | No |
ClinGen TOPMed |
|
|
CA9741999 rs763849883 |
360 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408089258 rs1600578811 |
361 | T>P | No |
ClinGen Ensembl |
|
|
CA408089252 rs1600578792 |
362 | T>P | No |
ClinGen Ensembl |
|
|
rs762746618 CA9741998 |
363 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408089244 rs1600578772 |
363 | T>P | No |
ClinGen Ensembl |
|
|
CA9741997 rs775040821 |
364 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741996 rs769441809 |
365 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741994 rs776322109 |
367 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9741995 rs745496808 |
367 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745496808 CA408089221 |
367 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770563344 CA310990341 |
369 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1025936 rs770563344 CA9741993 COSM1025937 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377106945 CA9741992 |
370 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741991 rs758694834 |
371 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758694834 CA9741990 |
371 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA310990326 rs372883065 |
372 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA9741989 rs748503241 |
374 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3840786 COSM3840787 CA408089185 rs1600578525 |
374 | T>P | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA408089173 rs1297499833 |
376 | A>T | No |
ClinGen gnomAD |
|
|
CA9741988 rs139297339 |
377 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170957177 CA408089153 |
379 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9741984 rs201258905 |
381 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9741982 rs762681696 |
384 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs776410652 CA9741979 |
388 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741978 rs776410652 |
388 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408089086 rs78274653 |
389 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275247761 CA408089091 |
389 | I>V | No |
ClinGen gnomAD |
|
|
CA9741975 rs773623368 |
390 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769018264 CA9741952 |
391 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_015521 | 392 | Q>H | No | UniProt | |
| VAR_015522 | 393 | K>N | No | UniProt | |
|
CA408089044 rs1428196994 |
394 | T>A | No |
ClinGen gnomAD |
|
|
rs925455284 CA310990064 |
395 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1210002805 CA408089023 |
397 | G>E | No |
ClinGen gnomAD |
|
|
rs1286683365 CA408089027 |
397 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746049400 CA408088999 |
400 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741947 rs147731114 |
401 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233324021 CA408088998 |
401 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745445574 CA9741946 |
406 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741945 rs748130946 |
406 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741943 rs754849924 |
407 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408088956 rs1377781064 |
408 | F>S | No |
ClinGen gnomAD |
|
|
CA408088951 rs1173280314 |
409 | S>P | No |
ClinGen gnomAD |
|
|
rs1461515219 CA408088929 |
412 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753637362 CA9741942 |
413 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766252376 CA9741941 |
416 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9741936 rs200583114 |
420 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM241662 rs775876542 CA9741933 |
423 | A>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373531344 CA408088851 |
426 | I>V | No |
ClinGen TOPMed |
|
|
CA9741931 rs143066766 |
427 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741895 rs753089862 |
430 | R>C | Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9741894 rs373639245 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA310989801 rs373639245 |
430 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741893 rs760872795 |
431 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA310989789 rs200743905 |
432 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200367480 CA9741892 |
432 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408088804 rs1312058546 |
432 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149067805 CA9741890 |
434 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772286850 CA9741891 |
434 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350672132 CA408088774 |
436 | Y>C | No |
ClinGen gnomAD |
|
|
rs1358578659 CA408088758 |
438 | L>R | No |
ClinGen gnomAD |
|
|
rs1188949813 CA408088715 |
444 | Y>C | No |
ClinGen gnomAD |
|
|
rs777340021 CA9741883 |
445 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200176301 CA310989744 |
445 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM478029 COSM478030 rs757935922 CA9741882 |
446 | W>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9741881 rs752155242 |
447 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778463353 CA9741880 |
447 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA408088695 rs1278355936 |
448 | G>S | No |
ClinGen gnomAD |
|
|
CA9741878 rs754366107 |
449 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA408088689 rs1420577188 |
449 | L>V | No |
ClinGen TOPMed |
|
|
rs761059922 CA9741876 |
452 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741875 rs750675189 |
453 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408088638 rs1374762690 |
456 | A>E | No |
ClinGen gnomAD |
|
|
rs1374762690 CA408088636 |
456 | A>V | No |
ClinGen gnomAD |
|
|
CA9741872 rs774338610 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1425469200 CA408088617 |
459 | A>V | No |
ClinGen gnomAD |
|
|
CA310989694 rs992651096 |
460 | F>S | No |
ClinGen Ensembl |
|
|
rs200688221 CA310989688 |
461 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs768779679 CA9741871 |
461 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741870 rs759453510 |
465 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA408088569 rs1435857921 |
467 | M>L | No |
ClinGen TOPMed |
|
| VAR_015523 | 467 | M>T | No | UniProt | |
|
CA408088552 rs1307849789 |
469 | L>F | No |
ClinGen TOPMed |
|
|
CA408088535 rs1485658532 |
471 | K>R | No |
ClinGen gnomAD |
|
|
COSM1025930 CA408088474 rs1348429438 COSM1025931 |
479 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746374953 CA9741841 |
484 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146754230 CA9741840 |
485 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239041500 CA408088400 |
490 | A>D | No |
ClinGen gnomAD |
|
|
rs1263514757 CA408088386 |
492 | K>N | No |
ClinGen gnomAD |
|
|
rs758431653 CA9741836 |
493 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408088383 rs1223466140 |
493 | G>S | No |
ClinGen gnomAD |
|
|
CA9741835 rs369474430 |
494 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408088359 rs1378396052 |
497 | I>V | No |
ClinGen gnomAD |
|
|
rs763763481 CA9741808 |
499 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs769436760 CA9741805 |
503 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775227624 CA408088301 |
503 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs775227624 CA9741806 |
503 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA9741804 rs759081309 |
504 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs369897858 CA9741803 |
505 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408088267 rs1316919724 |
508 | D>N | No |
ClinGen gnomAD |
|
|
rs778269388 CA9741800 |
509 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334028044 CA408088245 |
511 | H>D | No |
ClinGen gnomAD |
|
|
rs748415034 CA9741798 |
511 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9741796 rs755080840 |
512 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306477680 CA408088237 |
512 | T>R | No |
ClinGen TOPMed |
|
|
rs1461721516 CA408088230 |
513 | K>R | No |
ClinGen gnomAD |
|
|
rs780083223 CA9741794 |
518 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA408088182 rs561120946 |
521 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310988860 rs990919628 |
522 | S>L | No |
ClinGen Ensembl |
|
|
CA408088168 rs763965682 |
523 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741791 rs763965682 |
523 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310988857 rs935729454 |
524 | L>I | No |
ClinGen TOPMed |
|
|
rs752433632 CA9741789 |
525 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741786 rs776322068 |
526 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741787 rs776322068 |
526 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408088154 rs1568531526 |
526 | A>V | No |
ClinGen Ensembl |
|
|
CA9741785 rs765804145 |
527 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408088140 rs1240820468 |
529 | N>H | No |
ClinGen gnomAD |
|
|
CA408088132 rs202020752 |
530 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202020752 CA9741784 |
530 | A>T | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1017125323 CA408088124 |
531 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA310988798 rs1017125323 |
531 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408088109 rs1243332220 |
533 | H>Q | No |
ClinGen gnomAD |
|
|
CA310988795 rs141743086 |
533 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9741782 rs773533260 |
534 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773533260 CA408088104 |
534 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs200422150 CA9741781 |
535 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774573967 CA9741779 |
538 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332202964 CA408088079 |
538 | A>V | No |
ClinGen TOPMed |
|
|
rs768911979 CA9741778 |
539 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373915425 COSM178606 CA9741776 |
542 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408088046 rs1370085274 |
543 | S>R | No |
ClinGen gnomAD |
|
|
CA9741775 rs756092057 |
543 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741774 rs746974577 |
544 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9741772 rs755379986 |
545 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354814169 CA408088034 |
546 | E>* | No |
ClinGen gnomAD |
|
|
rs1457928321 CA408088025 |
547 | L>Q | No |
ClinGen gnomAD |
|
|
CA408088021 rs1600569090 |
548 | P>S | No |
ClinGen Ensembl |
|
|
VAR_047811 rs754745672 CA9741769 |
549 | S>L | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA408088001 rs1266510535 |
551 | T>I | No |
ClinGen gnomAD |
|
|
CA408088002 rs1266510535 |
551 | T>R | No |
ClinGen gnomAD |
|
|
rs1239550428 CA408087996 |
552 | H>R | No |
ClinGen gnomAD |
|
|
CA408087990 COSM1532977 COSM1532978 rs1311747266 |
553 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765924906 CA9741767 |
553 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA408087968 rs1375600617 |
556 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9741763 rs555306915 |
558 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408087956 rs144734280 |
559 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9741759 rs775511503 |
560 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769951788 CA9741758 |
561 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439970908 CA408087931 |
563 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1439970908 CA408087933 |
563 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781309890 CA9741755 |
565 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745890585 CA9741756 |
565 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741753 rs538658493 |
568 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408087895 rs1288325224 |
569 | L>H | No |
ClinGen gnomAD |
|
|
CA408087886 rs1555777427 |
570 | W>* | No |
ClinGen Ensembl |
|
|
rs1273251248 CA408087861 |
574 | T>N | No |
ClinGen gnomAD |
|
|
rs2067679756 RCV001234109 |
577 | Q>* | No |
ClinVar dbSNP |
|
|
rs1217751750 CA408087789 |
582 | P>R | No |
ClinGen gnomAD |
|
|
rs769959064 CA9741736 |
583 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408087785 rs1338373213 |
583 | Y>H | No |
ClinGen gnomAD |
|
|
rs1358009429 CA408087768 |
585 | H>Q | No |
ClinGen gnomAD |
|
|
rs889959878 CA310988533 |
587 | C>R | No |
ClinGen Ensembl |
|
|
CA9741733 rs771123757 |
588 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408087748 rs121909390 |
589 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9741731 rs778924154 |
589 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741732 rs778924154 |
589 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741729 rs748984296 |
591 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408087726 rs1355985571 |
593 | S>P | No |
ClinGen gnomAD |
|
|
rs750085120 CA9741726 |
594 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408087705 rs373510981 |
596 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741724 rs373510981 |
596 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408087691 rs1197805442 |
598 | P>L | No |
ClinGen gnomAD |
|
|
rs1568530567 CA408087694 |
598 | P>S | No |
ClinGen Ensembl |
|
|
rs752093825 CA9741722 |
599 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9741721 rs764537629 |
600 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763428142 CA9741720 |
600 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs984106155 CA310988449 |
601 | V>E | No |
ClinGen TOPMed |
|
|
CA408087680 rs1476364636 |
601 | V>M | No |
ClinGen gnomAD |
|
|
CA408087668 rs138262189 |
603 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408087665 rs1156862667 |
603 | A>V | No |
ClinGen TOPMed |
|
|
CA408087662 rs1468782093 |
604 | F>V | No |
ClinGen gnomAD |
|
|
rs545052586 CA408087650 |
606 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545052586 CA9741716 |
606 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9741715 rs771137666 |
607 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369945352 CA9741714 |
608 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741713 rs774448782 |
609 | S>T | No |
ClinGen ExAC |
|
|
rs768758410 CA9741712 |
609 | S>Y | No |
ClinGen ExAC |
|
|
CA408087625 rs779779012 |
610 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9741710 rs779779012 |
610 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150446005 CA408087605 |
613 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150446005 CA9741708 |
613 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741709 rs769617527 |
613 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445259508 CA408087589 |
616 | E>K | No |
ClinGen gnomAD |
|
|
rs1488008877 CA408087565 |
617 | M>T | No |
ClinGen gnomAD |
|
|
CA9741683 rs748610304 |
618 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741682 rs779432630 |
619 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408087553 rs779432630 |
619 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741681 rs755318173 |
619 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754299888 CA9741680 |
621 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751797233 CA408087536 |
621 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408087514 rs1386576411 |
624 | P>L | No |
ClinGen gnomAD |
|
|
CA310988111 rs140553932 |
625 | S>G | No |
ClinGen ESP TOPMed |
|
|
CA9741676 rs767506230 |
626 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761884464 CA9741675 |
627 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA310988100 rs952693515 |
628 | P>H | No |
ClinGen TOPMed |
|
|
rs984393831 CA408087476 |
630 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1351031394 CA408087479 |
630 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310988053 rs984393831 |
630 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147997533 CA9741673 |
632 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364624751 CA408087463 |
632 | A>T | No |
ClinGen gnomAD |
|
|
rs147997533 CA9741672 COSM241661 |
632 | A>V | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408087455 rs1439453831 |
633 | Q>H | No |
ClinGen TOPMed |
|
|
CA408087449 rs1323280677 |
634 | I>T | No |
ClinGen TOPMed |
|
|
rs201995424 CA9741669 |
636 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9741666 rs747642720 |
641 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9741665 rs778260935 |
642 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408087392 rs1285638785 |
644 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756489342 CA9741661 |
646 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741662 rs370663422 |
646 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408087369 rs1260190726 |
647 | G>A | No |
ClinGen TOPMed |
|
|
CA408087353 rs1302318450 |
650 | F>S | No |
ClinGen gnomAD |
|
|
CA310986373 rs998845246 |
650 | F>V | No |
ClinGen Ensembl |
|
|
CA408087345 rs1361076430 |
651 | L>P | No |
ClinGen gnomAD |
|
|
CA408087344 rs1361076430 |
651 | L>R | No |
ClinGen gnomAD |
|
|
CA408087340 rs1480612662 |
652 | L>P | No |
ClinGen gnomAD |
|
|
rs753720956 COSM131274 CA9741654 |
654 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9741655 rs759531557 |
654 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766169735 CA9741653 |
655 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs374263457 CA9741648 |
658 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310986290 rs749826950 |
659 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs768037986 CA9741647 |
659 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770312190 CA9741644 |
665 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143468052 CA9741643 |
669 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9741642 rs781382290 |
670 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs895024867 CA310986242 |
670 | P>S | No |
ClinGen gnomAD |
|
|
rs1399360071 CA408087221 |
671 | E>G | No |
ClinGen gnomAD |
|
|
CA408087212 rs1168258800 |
672 | N>I | No |
ClinGen gnomAD |
|
|
CA408087210 rs1463507224 CA408087211 |
672 | N>K | No |
ClinGen gnomAD |
|
|
CA408087213 rs1168258800 |
672 | N>S | No |
ClinGen gnomAD |
|
|
rs1304970113 CA408087209 |
673 | R>G | No |
ClinGen gnomAD |
|
|
rs1568529449 CA408087206 |
673 | R>T | No |
ClinGen Ensembl |
|
|
CA408087190 rs1555777003 |
674 | L>M | No |
ClinGen Ensembl |
|
|
CA9741603 rs775209104 |
675 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA408087184 rs1351824903 |
675 | V>M | No |
ClinGen gnomAD |
|
|
rs764826623 CA9741602 |
677 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760102440 CA9741601 |
678 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs776939754 CA9741600 |
681 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771362189 CA9741599 |
684 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA408087096 rs1470305092 |
689 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1377477231 CA408087089 |
690 | I>V | No |
ClinGen gnomAD |
|
|
rs1180556979 VAR_015524 CA408087074 |
692 | T>A | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1192393142 CA408087031 |
699 | L>P | No |
ClinGen Ensembl |
|
|
CA408087027 rs1490995726 |
700 | P>S | No |
ClinGen gnomAD |
|
|
CA9741593 rs149918522 |
701 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487318367 CA408087004 |
703 | H>R | No |
ClinGen gnomAD |
|
|
rs868360428 CA310985932 COSM724021 COSM724022 |
704 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9741589 rs751358233 |
705 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9741587 rs758183773 |
708 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301441186 CA408086973 |
708 | H>R | No |
ClinGen TOPMed |
|
|
CA9741584 rs139151749 |
710 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741585 rs764847132 |
710 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408086963 rs764847132 |
710 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741582 rs766847914 |
711 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200687374 CA9741580 |
713 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9741578 rs376940594 |
714 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000822697 rs1600561475 CA408086827 |
720 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs7344681 CA310985850 |
720 | E>G | No |
ClinGen gnomAD |
|
|
CA408086816 rs1276700822 |
721 | E>K | No |
ClinGen gnomAD |
|
|
CA9741573 rs770842348 |
722 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741571 rs150848295 |
722 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9741572 rs150848295 |
722 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408086799 rs770842348 |
722 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408086740 rs1186873624 |
725 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778664349 CA9741567 |
726 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9741565 rs140689149 |
729 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147254055 CA9741564 |
730 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9741563 rs761141276 |
731 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408086552 rs1479503169 |
733 | V>M | No |
ClinGen gnomAD |
|
|
CA9741528 rs748894688 |
735 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374017794 CA9741527 |
737 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741523 rs148158686 |
742 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752886060 CA9741520 |
745 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1190201 rs144846584 COSM1190202 CA9741518 |
747 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408086349 rs1157108936 |
749 | V>L | No |
ClinGen gnomAD |
|
|
rs1568527952 CA408086283 |
754 | L>M | No |
ClinGen Ensembl |
|
|
rs1259213760 CA408086278 |
754 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1004031166 CA310985398 |
755 | L>P | No |
ClinGen Ensembl |
|
|
CA9741514 rs774276335 |
759 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9741512 rs749061197 |
761 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs369152161 CA310985359 |
761 | Q>R | No |
ClinGen gnomAD |
|
|
rs979608451 CA310985336 |
764 | P>S | No |
ClinGen TOPMed |
|
|
rs552044097 CA310985327 |
767 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1284332406 CA408085978 |
774 | Y>C | No |
ClinGen TOPMed |
|
|
CA408085966 rs1218966666 |
775 | I>V | No |
ClinGen gnomAD |
|
|
CA9741508 COSM1025920 rs138917586 |
776 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1405637006 CA408085946 |
776 | A>V | No |
ClinGen gnomAD |
|
|
CA9741506 rs756689569 |
777 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741505 rs747504469 |
778 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778295914 CA9741504 |
779 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA310985235 rs764272881 |
779 | S>P | No |
ClinGen Ensembl |
|
|
rs1414613624 CA408085907 |
780 | L>F | No |
ClinGen TOPMed |
|
|
CA9741502 rs753148103 |
781 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335324642 CA408085839 |
784 | Q>* | No |
ClinGen gnomAD |
|
|
CA408085822 rs1555776703 |
785 | L>V | No |
ClinGen Ensembl |
|
|
CA408085808 rs1305167528 |
786 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754052581 CA9741499 |
788 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145325200 CA9741496 |
789 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026739186 CA310985097 |
790 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9741494 rs762767453 |
790 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA310984878 rs1026782159 |
798 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1600557255 CA408085446 |
799 | Y>S | No |
ClinGen Ensembl |
|
|
rs1198138429 CA408085386 |
801 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9741462 rs756424430 |
804 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs376117489 CA9741461 |
805 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781344724 CA9741460 |
806 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA408085264 rs1600556961 |
807 | R>M | No |
ClinGen Ensembl |
|
|
rs1438818124 CA408085235 |
809 | P>R | No |
ClinGen gnomAD |
|
|
rs1335019849 CA408085240 |
809 | P>S | No |
ClinGen gnomAD |
|
|
rs752654058 CA9741458 |
813 | I>T | No |
ClinGen ExAC |
|
|
rs765209496 CA9741457 |
815 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs765209496 CA408085133 |
815 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400325763 CA408085055 |
820 | Q>H | No |
ClinGen TOPMed |
|
|
rs1469293734 CA408085002 |
824 | L>P | No |
ClinGen gnomAD |
|
|
rs544270581 CA9741450 |
831 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9741448 rs749806849 |
833 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA408084870 rs1348785567 |
833 | S>N | No |
ClinGen gnomAD |
|
|
rs1340109511 CA408084847 |
834 | S>F | No |
ClinGen TOPMed |
|
|
rs1287704988 CA408084829 |
836 | P>H | No |
ClinGen TOPMed |
|
|
CA9741447 rs776055517 |
836 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9741446 rs373679606 |
838 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9741444 rs781224266 |
838 | M>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1532981 CA9741445 COSM1532982 rs373679606 |
838 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008052074 CA408084770 |
839 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9741442 rs747133746 |
841 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9741443 rs757480860 |
841 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947617914 CA310984726 |
844 | L>F | No |
ClinGen Ensembl |
|
|
CA408084686 rs1399792532 |
845 | I>V | No |
ClinGen gnomAD |
|
|
rs777828078 CA9741441 |
847 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9741440 rs754970213 |
847 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs766205580 CA9741438 |
848 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755821162 CA9741437 |
852 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237832665 CA408084460 |
854 | Y>C | No |
ClinGen gnomAD |
|
|
rs1219323458 CA408084452 |
855 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408084424 rs1274553347 |
858 | P>A | No |
ClinGen gnomAD |
|
|
rs1228445530 CA408084414 |
858 | P>L | No |
ClinGen gnomAD |
|
|
CA9741408 rs201771042 |
859 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751709036 CA9741407 |
859 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751709036 CA310984283 |
859 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408084403 rs1438996500 |
860 | I>F | No |
ClinGen TOPMed |
|
|
rs374392256 CA9741406 |
861 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1022746367 CA408084359 |
863 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1022746367 CA310984264 |
863 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279310374 CA408084274 |
868 | V>A | No |
ClinGen gnomAD |
|
|
CA408084282 rs1217510942 |
868 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9741405 rs76962118 |
870 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769684269 CA408084228 |
871 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769684269 CA9741403 |
871 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745803026 CA9741402 |
873 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780862017 CA9741401 |
874 | R>S | No |
ClinGen ExAC gnomAD |
3 associated diseases with Q8NBS3
[MIM: 217400]: Corneal dystrophy and perceptive deafness (CDPD)
An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO:0000269|PubMed:17220209}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 217700]: Corneal endothelial dystrophy (CHED)
A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. {ECO:0000269|PubMed:16767101, ECO:0000269|PubMed:16825429, ECO:0000269|PubMed:17220209, ECO:0000269|PubMed:17397048, ECO:0000269|PubMed:17679935, ECO:0000269|PubMed:18474783, ECO:0000269|PubMed:19369245, ECO:0000269|PubMed:20108384, ECO:0000269|PubMed:20185830, ECO:0000269|PubMed:21203343, ECO:0000269|PubMed:21288032, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:23813972, ECO:0000269|PubMed:26286922, ECO:0000269|PubMed:27581649}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613268]: Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269|PubMed:18024964, ECO:0000269|PubMed:20848555, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:25007886}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO:0000269|PubMed:17220209}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. {ECO:0000269|PubMed:16767101, ECO:0000269|PubMed:16825429, ECO:0000269|PubMed:17220209, ECO:0000269|PubMed:17397048, ECO:0000269|PubMed:17679935, ECO:0000269|PubMed:18474783, ECO:0000269|PubMed:19369245, ECO:0000269|PubMed:20108384, ECO:0000269|PubMed:20185830, ECO:0000269|PubMed:21203343, ECO:0000269|PubMed:21288032, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:23813972, ECO:0000269|PubMed:26286922, ECO:0000269|PubMed:27581649}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269|PubMed:18024964, ECO:0000269|PubMed:20848555, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:25007886}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8NBS3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Bicarbonate transporter-like, transmembrane domain | 328 - 818 | IPR011531 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| active borate transmembrane transporter activity | Enables the transport of borate across a membrane against the concentration gradient. |
| bicarbonate transmembrane transporter activity | Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
| proton channel activity | Enables the facilitated diffusion of a hydrogen ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| proton transmembrane transporter activity | Enables the transfer of a proton from one side of a membrane to the other. |
| sodium channel activity | Enables the facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| solute:inorganic anion antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out). |
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| water transmembrane transporter activity | Enables the transfer of water (H2O) from one side of a membrane to the other. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| borate transport | The directed movement of borate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Borate is the anion (BO3)3-; boron is a group 13 element, with properties which are borderline between metals and non-metals. |
| cellular cation homeostasis | Any process involved in the maintenance of an internal steady state of cations at the level of a cell. |
| cellular hypotonic response | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a hypotonic environment, i.e. an environment with a lower concentration of solutes than the organism or cell. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| fluid transport | The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion homeostasis | Any process involved in the maintenance of an internal steady state of ions within an organism or cell. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of mesenchymal stem cell differentiation | Any process that modulates the frequency, rate or extent of mesenchymal stem cell differentiation. |
| regulation of mitochondrial membrane potential | Any process that modulates the establishment or extent of the mitochondrial membrane potential, the electric potential existing across the mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9GL77 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Bos taurus (Bovine) | PR |
| Q32LP4 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Bos taurus (Bovine) | PR |
| Q9Y6R1 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Homo sapiens (Human) | PR |
| Q9Y6M7 | SLC4A7 | Sodium bicarbonate cotransporter 3 | Homo sapiens (Human) | PR |
| Q6U841 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Homo sapiens (Human) | PR |
| Q2Y0W8 | SLC4A8 | Electroneutral sodium bicarbonate exchanger 1 | Homo sapiens (Human) | PR |
| P02730 | SLC4A1 | Band 3 anion transport protein | Homo sapiens (Human) | PR |
| P04920 | SLC4A2 | Anion exchange protein 2 | Homo sapiens (Human) | PR |
| P04919 | Slc4a1 | Band 3 anion transport protein | Mus musculus (Mouse) | PR |
| Q8JZR6 | Slc4a8 | Electroneutral sodium bicarbonate exchanger 1 | Mus musculus (Mouse) | PR |
| Q8BTY2 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Mus musculus (Mouse) | PR |
| P13808 | Slc4a2 | Anion exchange protein 2 | Mus musculus (Mouse) | PR |
| Q5DTL9 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Mus musculus (Mouse) | PR |
| P16283 | Slc4a3 | Anion exchange protein 3 | Mus musculus (Mouse) | PR |
| O88343 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Mus musculus (Mouse) | PR |
| A2AJN7 | Slc4a11 | Solute carrier family 4 member 11 | Mus musculus (Mouse) | PR |
| Q4U116 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Sus scrofa (Pig) | PR |
| Q9JI66 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Rattus norvegicus (Rat) | PR |
| Q9R1N3 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Rattus norvegicus (Rat) | PR |
| Q80ZA5 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Rattus norvegicus (Rat) | PR |
| Q9M1P7 | BOR2 | Probable boron transporter 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SUU1 | BOR7 | Probable boron transporter 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E954 | BOR6 | Probable boron transporter 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VYR7 | BOR1 | Boron transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAATRRVFH | LQPCENSPTM | SQNGYFEDSS | YYKCDTDDTF | EAREEILGDE | AFDTANSSIV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGESIRFFVN | VNLEMQATNT | ENEATSGGCV | LLHTSRKYLK | LKNFKEEIRA | HRDLDGFLAQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASIVLNETAT | SLDNVLRTML | RRFARDPDNN | EPNCNLDLLM | AMLFTDAGAP | MRGKVHLLSD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TIQGVTATVT | GVRYQQSWLC | IICTMKALQK | RHVCISRLVR | PQNWGENSCE | VRFVILVLAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKMKSTKTAM | EVARTFATMF | SDIAFRQKLL | ETRTEEEFKE | ALVHQRQLLT | MVSHGPVAPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TKERSTVSLP | AHRHPEPPKC | KDFVPFGKGI | REDIARRFPL | YPLDFTDGII | GKNKAVGKYI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTTLFLYFAC | LLPTIAFGSL | NDENTDGAID | VQKTIAGQSI | GGLLYALFSG | QPLVILLTTA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLALYIQVIR | VICDDYDLDF | NSFYAWTGLW | NSFFLALYAF | FNLSLVMSLF | KRSTEEIIAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FISITFVLDA | VKGTVKIFWK | YYYGHYLDDY | HTKRTSSLVS | LSGLGASLNA | SLHTALNASF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LASPTELPSA | THSGQATAVL | SLLIMLGTLW | LGYTLYQFKK | SPYLHPCVRE | ILSDCALPIA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLAFSLISSH | GFREIEMSKF | RYNPSESPFA | MAQIQSLSLR | AVSGAMGLGF | LLSMLFFIEQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NLVAALVNAP | ENRLVKGTAY | HWDLLLLAII | NTGLSLFGLP | WIHAAYPHSP | LHVRALALVE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ERVENGHIYD | TIVNVKETRL | TSLGASVLVG | LSLLLLPVPL | QWIPKPVLYG | LFLYIALTSL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DGNQLVQRVA | LLLKEQTAYP | PTHYIRRVPQ | RKIHYFTGLQ | VLQLLLLCAF | GMSSLPYMKM |
| 850 | 860 | 870 | |||
| IFPLIMIAMI | PIRYILLPRI | IEAKYLDVMD | AEHRP |