UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879060_56879062del | CA2633379059 | SLC12A3 | c.1181-13_1181-11del (n.1181-13_1181-11del) c.1178-13_1178-11del (n.1178-13_1178-11del) | gnomAD v4 |
| 16 | g.56879060T>C | CA8069389 | SLC12A3 | c.1181-13T>C (n.1181-13T>C) c.1178-13T>C (n.1178-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879060T= | CA2224353718 | SLC12A3 | c.1181-13T= (n.1181-13T=) c.1178-13T= (n.1178-13T=) | |
| 16 | g.56879061T>C | CA2633379063 | SLC12A3 | c.1181-12T>C (n.1181-12T>C) c.1178-12T>C (n.1178-12T>C) | gnomAD v4 |
| 16 | g.56879063C>A | CA2633379066 | SLC12A3 | c.1181-10C>A (n.1181-10C>A) c.1178-10C>A (n.1178-10C>A) | gnomAD v4 |
| 16 | g.56879063C= | CA2224353719 | SLC12A3 | c.1181-10C= (n.1181-10C=) c.1178-10C= (n.1178-10C=) | |
| 16 | g.56879063C>G | CA2580091668 | SLC12A3 | c.1181-10C>G (n.1181-10C>G) c.1178-10C>G (n.1178-10C>G) | ClinVar |
| 16 | g.56879063C>T | CA2224353720 | SLC12A3 | c.1181-10C>T (n.1181-10C>T) c.1178-10C>T (n.1178-10C>T) | dbSNP gnomAD v4 |
| 16 | g.56879064del | CA645573541 | SLC12A3 | c.1181-9del (n.1181-9del) c.1178-9del (n.1178-9del) | COSMIC |
| 16 | g.56879064T>C | CA2633379071 | SLC12A3 | c.1181-9T>C (n.1181-9T>C) c.1178-9T>C (n.1178-9T>C) | gnomAD v4 |
| 16 | g.56879065C>A | CA2633379076 | SLC12A3 | c.1181-8C>A (n.1181-8C>A) c.1178-8C>A (n.1178-8C>A) | gnomAD v4 |
| 16 | g.56879065C>T | CA2633379083 | SLC12A3 | c.1181-8C>T (n.1181-8C>T) c.1178-8C>T (n.1178-8C>T) | gnomAD v4 |
| 16 | g.56879066C= | CA2224353721 | SLC12A3 | c.1181-7C= (n.1181-7C=) c.1178-7C= (n.1178-7C=) | |
| 16 | g.56879066C>T | CA622336319 | SLC12A3 | c.1181-7C>T (n.1181-7C>T) c.1178-7C>T (n.1178-7C>T) | dbSNP gnomAD v2 |
| 16 | g.56879069_56879070del | CA2517700156 | SLC12A3 | c.1181-4_1181-3del (n.1181-4_1181-3del) c.1178-4_1178-3del (n.1178-4_1178-3del) | |
| 16 | g.56879067T>A | CA2499223590 | SLC12A3 | c.1181-6T>A (n.1181-6T>A) c.1178-6T>A (n.1178-6T>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879067T>C | CA622336320 | SLC12A3 | c.1181-6T>C (n.1181-6T>C) c.1178-6T>C (n.1178-6T>C) | dbSNP gnomAD v2 |
| 16 | g.56879067T= | CA2224353722 | SLC12A3 | c.1181-6T= (n.1181-6T=) c.1178-6T= (n.1178-6T=) | |
| 16 | g.56879068C= | CA2224353723 | SLC12A3 | c.1181-5C= (n.1181-5C=) c.1178-5C= (n.1178-5C=) | |
| 16 | g.56879068C>G | CA2633379098 | SLC12A3 | c.1181-5C>G (n.1181-5C>G) c.1178-5C>G (n.1178-5C>G) | gnomAD v4 |
| 16 | g.56879068C>T | CA622336321 | SLC12A3 | c.1181-5C>T (n.1181-5C>T) c.1178-5C>T (n.1178-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879069T>C | CA622336322 | SLC12A3 | c.1181-4T>C (n.1181-4T>C) c.1178-4T>C (n.1178-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879069T>G | CA2499223591 | SLC12A3 | c.1181-4T>G (n.1181-4T>G) c.1178-4T>G (n.1178-4T>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879069T= | CA2224353724 | SLC12A3 | c.1181-4T= (n.1181-4T=) c.1178-4T= (n.1178-4T=) | |
| 16 | g.56879070C>A | CA2633379117 | SLC12A3 | c.1181-3C>A (n.1181-3C>A) c.1178-3C>A (n.1178-3C>A) | gnomAD v4 |
| 16 | g.56879071A>C | CA395985471 | SLC12A3 | c.1181-2A>C (n.1181-2A>C) c.1178-2A>C (n.1178-2A>C) | |
| 16 | g.56879071A>G | CA395985467 | SLC12A3 | c.1181-2A>G (n.1181-2A>G) c.1178-2A>G (n.1178-2A>G) | gnomAD v4 |
| 16 | g.56879071A>T | CA395985463 | SLC12A3 | c.1181-2A>T (n.1181-2A>T) c.1178-2A>T (n.1178-2A>T) | |
| 16 | g.56879072G>A | CA395985476 | SLC12A3 | c.1181-1G>A (n.1181-1G>A) c.1178-1G>A (n.1178-1G>A) | |
| 16 | g.56879072G>C | CA395985477 | SLC12A3 | c.1181-1G>C (n.1181-1G>C) c.1178-1G>C (n.1178-1G>C) | |
| 16 | g.56879072G>T | CA395985481 | SLC12A3 | c.1181-1G>T (n.1181-1G>T) c.1178-1G>T (n.1178-1G>T) | |
| 16 | g.56879073G>A | CA8069390 | SLC12A3 | c.1181G>A (p.Gly394Asp) c.1178G>A (p.Gly393Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879073G>C | CA395985488 | SLC12A3 | c.1181G>C (p.Gly394Ala) c.1178G>C (p.Gly393Ala) | gnomAD v4 |
| 16 | g.56879073G= | CA2224353725 | SLC12A3 | c.1181G= (p.Gly394=) c.1178G= (p.Gly393=) | |
| 16 | g.56879073G>T | CA395985489 | SLC12A3 | c.1181G>T (p.Gly394Val) c.1178G>T (p.Gly393Val) | |
| 16 | g.56879074C>A | CA495603662 | SLC12A3 | c.1182C>A (p.Gly394=) c.1179C>A (p.Gly393=) | |
| 16 | g.56879074C= | CA2224353726 | SLC12A3 | c.1182C= (p.Gly394=) c.1179C= (p.Gly393=) | |
| 16 | g.56879074C>G | CA495603663 | SLC12A3 | c.1182C>G (p.Gly394=) c.1179C>G (p.Gly393=) | |
| 16 | g.56879074C>T | CA495603664 | SLC12A3 | c.1182C>T (p.Gly394=) c.1179C>T (p.Gly393=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879075T>A | CA395985493 | SLC12A3 | c.1183T>A (p.Ser395Thr) c.1180T>A (p.Ser394Thr) | |
| 16 | g.56879075T>C | CA395985496 | SLC12A3 | c.1183T>C (p.Ser395Pro) c.1180T>C (p.Ser394Pro) | |
| 16 | g.56879075T>G | CA395985498 | SLC12A3 | c.1183T>G (p.Ser395Ala) c.1180T>G (p.Ser394Ala) | |
| 16 | g.56879076C>A | CA395985502 | SLC12A3 | c.1184C>A (p.Ser395Tyr) c.1181C>A (p.Ser394Tyr) | gnomAD v4 |
| 16 | g.56879076C>G | CA395985505 | SLC12A3 | c.1184C>G (p.Ser395Cys) c.1181C>G (p.Ser394Cys) | |
| 16 | g.56879076C>T | CA395985507 | SLC12A3 | c.1184C>T (p.Ser395Phe) c.1181C>T (p.Ser394Phe) | gnomAD v4 |
| 16 | g.56879077C>A | CA495603665 | SLC12A3 | c.1185C>A (p.Ser395=) c.1182C>A (p.Ser394=) | |
| 16 | g.56879077C= | CA2224353727 | SLC12A3 | c.1185C= (p.Ser395=) c.1182C= (p.Ser394=) | |
| 16 | g.56879077C>G | CA495603666 | SLC12A3 | c.1185C>G (p.Ser395=) c.1182C>G (p.Ser394=) | dbSNP gnomAD v2 |
| 16 | g.56879077C>T | CA495603667 | SLC12A3 | c.1185C>T (p.Ser395=) c.1182C>T (p.Ser394=) | |
| 16 | g.56879078T>A | CA395985515 | SLC12A3 | c.1186T>A (p.Cys396Ser) c.1183T>A (p.Cys395Ser) | |
| 16 | g.56879078T>C | CA395985513 | SLC12A3 | c.1186T>C (p.Cys396Arg) c.1183T>C (p.Cys395Arg) | |
| 16 | g.56879078T>G | CA395985510 | SLC12A3 | c.1186T>G (p.Cys396Gly) c.1183T>G (p.Cys395Gly) | |
| 16 | g.56879079G>A | CA395985519 | SLC12A3 | c.1187G>A (p.Cys396Tyr) c.1184G>A (p.Cys395Tyr) | |
| 16 | g.56879079G>C | CA395985521 | SLC12A3 | c.1187G>C (p.Cys396Ser) c.1184G>C (p.Cys395Ser) | |
| 16 | g.56879079G>T | CA395985522 | SLC12A3 | c.1187G>T (p.Cys396Phe) c.1184G>T (p.Cys395Phe) | |
| 16 | g.56879080C>A | CA8069391 | SLC12A3 | c.1188C>A (p.Cys396Ter) c.1185C>A (p.Cys395Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879080C= | CA2224353728 | SLC12A3 | c.1188C= (p.Cys396=) c.1185C= (p.Cys395=) | |
| 16 | g.56879080C>G | CA395985537 | SLC12A3 | c.1188C>G (p.Cys396Trp) c.1185C>G (p.Cys395Trp) | |
| 16 | g.56879080C>T | CA281501145 | SLC12A3 | c.1188C>T (p.Cys396=) c.1185C>T (p.Cys395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879081G>A | CA216088 | SLC12A3 | c.1189G>A (p.Val397Met) c.1186G>A (p.Val396Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879081G>C | CA395985542 | SLC12A3 | c.1189G>C (p.Val397Leu) c.1186G>C (p.Val396Leu) | |
| 16 | g.56879081G= | CA2224353729 | SLC12A3 | c.1189G= (p.Val397=) c.1186G= (p.Val396=) | |
| 16 | g.56879081G>T | CA8069392 | SLC12A3 | c.1189G>T (p.Val397Leu) c.1186G>T (p.Val396Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879082T>A | CA395985548 | SLC12A3 | c.1190T>A (p.Val397Glu) c.1187T>A (p.Val396Glu) | |
| 16 | g.56879082T>C | CA395985549 | SLC12A3 | c.1190T>C (p.Val397Ala) c.1187T>C (p.Val396Ala) | |
| 16 | g.56879082T>G | CA395985553 | SLC12A3 | c.1190T>G (p.Val397Gly) c.1187T>G (p.Val396Gly) | |
| 16 | g.56879083G>A | CA8069393 | SLC12A3 | c.1191G>A (p.Val397=) c.1188G>A (p.Val396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879083G>C | CA495603670 | SLC12A3 | c.1191G>C (p.Val397=) c.1188G>C (p.Val396=) | |
| 16 | g.56879083G= | CA2224353730 | SLC12A3 | c.1191G= (p.Val397=) c.1188G= (p.Val396=) | |
| 16 | g.56879083G>T | CA495603669 | SLC12A3 | c.1191G>T (p.Val397=) c.1188G>T (p.Val396=) | |
| 16 | g.56879083_56879095del | CA2695223428 | SLC12A3 | c.1191_1203del (p.Val398LeufsTer4) c.1188_1200del (p.Val397LeufsTer4) | |
| 16 | g.56879084G>A | CA8069395 | SLC12A3 | c.1192G>A (p.Val398Met) c.1189G>A (p.Val397Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879084G>C | CA395985560 | SLC12A3 | c.1192G>C (p.Val398Leu) c.1189G>C (p.Val397Leu) | gnomAD v4 |
| 16 | g.56879084G= | CA2224353731 | SLC12A3 | c.1192G= (p.Val398=) c.1189G= (p.Val397=) | |
| 16 | g.56879084G>T | CA395985558 | SLC12A3 | c.1192G>T (p.Val398Leu) c.1189G>T (p.Val397Leu) | |
| 16 | g.56879085T>A | CA395985572 | SLC12A3 | c.1193T>A (p.Val398Glu) c.1190T>A (p.Val397Glu) | |
| 16 | g.56879085T>C | CA395985575 | SLC12A3 | c.1193T>C (p.Val398Ala) c.1190T>C (p.Val397Ala) | |
| 16 | g.56879085T>G | CA395985569 | SLC12A3 | c.1193T>G (p.Val398Gly) c.1190T>G (p.Val397Gly) | |
| 16 | g.56879088_56879094dup | CA8069394 | SLC12A3 | c.1196_1202dup (p.Ser402Ter) c.1193_1199dup (p.Ser401Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879086G>A | CA495603671 | SLC12A3 | c.1194G>A (p.Val398=) c.1191G>A (p.Val397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879086G>C | CA495603672 | SLC12A3 | c.1194G>C (p.Val398=) c.1191G>C (p.Val397=) | |
| 16 | g.56879086G= | CA2224353732 | SLC12A3 | c.1194G= (p.Val398=) c.1191G= (p.Val397=) | |
| 16 | g.56879086G>T | CA495603673 | SLC12A3 | c.1194G>T (p.Val398=) c.1191G>T (p.Val397=) | |
| 16 | g.56879087C>A | CA395985577 | SLC12A3 | c.1195C>A (p.Arg399Ser) c.1192C>A (p.Arg398Ser) | |
| 16 | g.56879087C= | CA2224353733 | SLC12A3 | c.1195C= (p.Arg399=) c.1192C= (p.Arg398=) | |
| 16 | g.56879087C>G | CA395985580 | SLC12A3 | c.1195C>G (p.Arg399Gly) c.1192C>G (p.Arg398Gly) | ClinVar |
| 16 | g.56879087C>T | CA8069396 | SLC12A3 | c.1195C>T (p.Arg399Cys) c.1192C>T (p.Arg398Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56879087_56879088delinsCG | CA2224353734 | SLC12A3 | c.1195_1196delinsCG (p.Arg399=) c.1192_1193delinsCG (p.Arg398=) | |
| 16 | g.56879088del | CA977643631 | SLC12A3 | c.1196del (p.Arg399LeufsTer7) c.1193del (p.Arg398LeufsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879088G>A | CA8069397 | SLC12A3 | c.1196G>A (p.Arg399His) c.1193G>A (p.Arg398His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879088G>C | CA8069398 | SLC12A3 | c.1196G>C (p.Arg399Pro) c.1193G>C (p.Arg398Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879088G= | CA2224353735 | SLC12A3 | c.1196G= (p.Arg399=) c.1193G= (p.Arg398=) | |
| 16 | g.56879088G>T | CA8069399 | SLC12A3 | c.1196G>T (p.Arg399Leu) c.1193G>T (p.Arg398Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879089T>A | CA495603674 | SLC12A3 | c.1197T>A (p.Arg399=) c.1194T>A (p.Arg398=) | |
| 16 | g.56879089T>C | CA495603676 | SLC12A3 | c.1197T>C (p.Arg399=) c.1194T>C (p.Arg398=) | gnomAD v4 |
| 16 | g.56879089T>G | CA495603675 | SLC12A3 | c.1197T>G (p.Arg399=) c.1194T>G (p.Arg398=) | |
| 16 | g.56879090G>A | CA8069400 | SLC12A3 | c.1198G>A (p.Asp400Asn) c.1195G>A (p.Asp399Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879090G>C | CA395985595 | SLC12A3 | c.1198G>C (p.Asp400His) c.1195G>C (p.Asp399His) | |
| 16 | g.56879090G= | CA2224353736 | SLC12A3 | c.1198G= (p.Asp400=) c.1195G= (p.Asp399=) | |
| 16 | g.56879090G>T | CA395985598 | SLC12A3 | c.1198G>T (p.Asp400Tyr) c.1195G>T (p.Asp399Tyr) | |
| 16 | g.56879091A>C | CA395985600 | SLC12A3 | c.1199A>C (p.Asp400Ala) c.1196A>C (p.Asp399Ala) | |
| 16 | g.56879091A>G | CA395985602 | SLC12A3 | c.1199A>G (p.Asp400Gly) c.1196A>G (p.Asp399Gly) | |
| 16 | g.56879091A>T | CA395985604 | SLC12A3 | c.1199A>T (p.Asp400Val) c.1196A>T (p.Asp399Val) | |
| 16 | g.56879092T>A | CA395985608 | SLC12A3 | c.1200T>A (p.Asp400Glu) c.1197T>A (p.Asp399Glu) | |
| 16 | g.56879092T>C | CA8069401 | SLC12A3 | c.1200T>C (p.Asp400=) c.1197T>C (p.Asp399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879092T>G | CA395985606 | SLC12A3 | c.1200T>G (p.Asp400Glu) c.1197T>G (p.Asp399Glu) | |
| 16 | g.56879092T= | CA2224353737 | SLC12A3 | c.1200T= (p.Asp400=) c.1197T= (p.Asp399=) | |
| 16 | g.56879093G>A | CA395985611 | SLC12A3 | c.1201G>A (p.Ala401Thr) c.1198G>A (p.Ala400Thr) | |
| 16 | g.56879093G>C | CA395985613 | SLC12A3 | c.1201G>C (p.Ala401Pro) c.1198G>C (p.Ala400Pro) | |
| 16 | g.56879093G>T | CA395985615 | SLC12A3 | c.1201G>T (p.Ala401Ser) c.1198G>T (p.Ala400Ser) | |
| 16 | g.56879094C>A | CA395985617 | SLC12A3 | c.1202C>A (p.Ala401Asp) c.1199C>A (p.Ala400Asp) | gnomAD v4 |
| 16 | g.56879094C>G | CA395985621 | SLC12A3 | c.1202C>G (p.Ala401Gly) c.1199C>G (p.Ala400Gly) | |
| 16 | g.56879094C>T | CA395985623 | SLC12A3 | c.1202C>T (p.Ala401Val) c.1199C>T (p.Ala400Val) | gnomAD v4 |
| 16 | g.56879095C>A | CA495603677 | SLC12A3 | c.1203C>A (p.Ala401=) c.1200C>A (p.Ala400=) | |
| 16 | g.56879095C>G | CA495603679 | SLC12A3 | c.1203C>G (p.Ala401=) c.1200C>G (p.Ala400=) | |
| 16 | g.56879095C>T | CA495603678 | SLC12A3 | c.1203C>T (p.Ala401=) c.1200C>T (p.Ala400=) | |
| 16 | g.56879096T>A | CA395985626 | SLC12A3 | c.1204T>A (p.Ser402Thr) c.1201T>A (p.Ser401Thr) | |
| 16 | g.56879096T>C | CA395985627 | SLC12A3 | c.1204T>C (p.Ser402Pro) c.1201T>C (p.Ser401Pro) | |
| 16 | g.56879096T>G | CA395985629 | SLC12A3 | c.1204T>G (p.Ser402Ala) c.1201T>G (p.Ser401Ala) | |
| 16 | g.56879097C>A | CA395985632 | SLC12A3 | c.1205C>A (p.Ser402Tyr) c.1202C>A (p.Ser401Tyr) | |
| 16 | g.56879097C>G | CA395985635 | SLC12A3 | c.1205C>G (p.Ser402Cys) c.1202C>G (p.Ser401Cys) | |
| 16 | g.56879097C>T | CA395985636 | SLC12A3 | c.1205C>T (p.Ser402Phe) c.1202C>T (p.Ser401Phe) | COSMIC |
| 16 | g.56879098T>A | CA495603680 | SLC12A3 | c.1206T>A (p.Ser402=) c.1203T>A (p.Ser401=) | |
| 16 | g.56879098T>C | CA495603681 | SLC12A3 | c.1206T>C (p.Ser402=) c.1203T>C (p.Ser401=) | |
| 16 | g.56879098T>G | CA495603682 | SLC12A3 | c.1206T>G (p.Ser402=) c.1203T>G (p.Ser401=) | |
| 16 | g.56879099G>A | CA395985638 | SLC12A3 | c.1207G>A (p.Gly403Arg) c.1204G>A (p.Gly402Arg) | |
| 16 | g.56879099G>C | CA395985641 | SLC12A3 | c.1207G>C (p.Gly403Arg) c.1204G>C (p.Gly402Arg) | |
| 16 | g.56879099G>T | CA395985639 | SLC12A3 | c.1207G>T (p.Gly403Trp) c.1204G>T (p.Gly402Trp) | |
| 16 | g.56879100G>A | CA395985644 | SLC12A3 | c.1208G>A (p.Gly403Glu) c.1205G>A (p.Gly402Glu) | |
| 16 | g.56879100G>C | CA395985646 | SLC12A3 | c.1208G>C (p.Gly403Ala) c.1205G>C (p.Gly402Ala) | |
| 16 | g.56879100G>T | CA395985648 | SLC12A3 | c.1208G>T (p.Gly403Val) c.1205G>T (p.Gly402Val) | gnomAD v4 |
| 16 | g.56879101G>A | CA281501172 | SLC12A3 | c.1209G>A (p.Gly403=) c.1206G>A (p.Gly402=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879101G>C | CA495603683 | SLC12A3 | c.1209G>C (p.Gly403=) c.1206G>C (p.Gly402=) | |
| 16 | g.56879101G= | CA2224353738 | SLC12A3 | c.1209G= (p.Gly403=) c.1206G= (p.Gly402=) | |
| 16 | g.56879101G>T | CA495603684 | SLC12A3 | c.1209G>T (p.Gly403=) c.1206G>T (p.Gly402=) | |
| 16 | g.56879102G>A | CA8069402 | SLC12A3 | c.1210G>A (p.Val404Ile) c.1207G>A (p.Val403Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879102G>C | CA395985652 | SLC12A3 | c.1210G>C (p.Val404Leu) c.1207G>C (p.Val403Leu) | |
| 16 | g.56879102G= | CA2224353739 | SLC12A3 | c.1210G= (p.Val404=) c.1207G= (p.Val403=) | |
| 16 | g.56879102G>T | CA395985653 | SLC12A3 | c.1210G>T (p.Val404Phe) c.1207G>T (p.Val403Phe) | |
| 16 | g.56879103T>A | CA395985657 | SLC12A3 | c.1211T>A (p.Val404Asp) c.1208T>A (p.Val403Asp) | |
| 16 | g.56879103T>C | CA395985658 | SLC12A3 | c.1211T>C (p.Val404Ala) c.1208T>C (p.Val403Ala) | |
| 16 | g.56879103T>G | CA395985660 | SLC12A3 | c.1211T>G (p.Val404Gly) c.1208T>G (p.Val403Gly) | |
| 16 | g.56879104C>A | CA495603685 | SLC12A3 | c.1212C>A (p.Val404=) c.1209C>A (p.Val403=) | |
| 16 | g.56879104C= | CA2224353740 | SLC12A3 | c.1212C= (p.Val404=) c.1209C= (p.Val403=) | |
| 16 | g.56879104C>G | CA495603686 | SLC12A3 | c.1212C>G (p.Val404=) c.1209C>G (p.Val403=) | ClinVar dbSNP |
| 16 | g.56879104C>T | CA495603687 | SLC12A3 | c.1212C>T (p.Val404=) c.1209C>T (p.Val403=) | ClinVar dbSNP |
| 16 | g.56879105C>A | CA395985662 | SLC12A3 | c.1213C>A (p.Leu405Met) c.1210C>A (p.Leu404Met) | |
| 16 | g.56879105C>G | CA395985664 | SLC12A3 | c.1213C>G (p.Leu405Val) c.1210C>G (p.Leu404Val) | |
| 16 | g.56879105C>T | CA495603688 | SLC12A3 | c.1213C>T (p.Leu405=) c.1210C>T (p.Leu404=) | |
| 16 | g.56879106T>A | CA395985670 | SLC12A3 | c.1214T>A (p.Leu405Gln) c.1211T>A (p.Leu404Gln) | |
| 16 | g.56879106T>C | CA395985666 | SLC12A3 | c.1214T>C (p.Leu405Pro) c.1211T>C (p.Leu404Pro) | gnomAD v4 |
| 16 | g.56879106T>G | CA395985668 | SLC12A3 | c.1214T>G (p.Leu405Arg) c.1211T>G (p.Leu404Arg) | |
| 16 | g.56879107G>A | CA495603689 | SLC12A3 | c.1215G>A (p.Leu405=) c.1212G>A (p.Leu404=) | |
| 16 | g.56879107G>C | CA495603690 | SLC12A3 | c.1215G>C (p.Leu405=) c.1212G>C (p.Leu404=) | |
| 16 | g.56879107G>T | CA495603691 | SLC12A3 | c.1215G>T (p.Leu405=) c.1212G>T (p.Leu404=) | |
| 16 | g.56879108A= | CA2224353741 | SLC12A3 | c.1216A= (p.Asn406=) c.1213A= (p.Asn405=) | |
| 16 | g.56879108A>C | CA8069403 | SLC12A3 | c.1216A>C (p.Asn406His) c.1213A>C (p.Asn405His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879108A>G | CA395985673 | SLC12A3 | c.1216A>G (p.Asn406Asp) c.1213A>G (p.Asn405Asp) | |
| 16 | g.56879108A>T | CA395985675 | SLC12A3 | c.1216A>T (p.Asn406Tyr) c.1213A>T (p.Asn405Tyr) | |
| 16 | g.56879109A>C | CA395985678 | SLC12A3 | c.1217A>C (p.Asn406Thr) c.1214A>C (p.Asn405Thr) | |
| 16 | g.56879109A>G | CA395985679 | SLC12A3 | c.1217A>G (p.Asn406Ser) c.1214A>G (p.Asn405Ser) | |
| 16 | g.56879109A>T | CA395985681 | SLC12A3 | c.1217A>T (p.Asn406Ile) c.1214A>T (p.Asn405Ile) | dbSNP |
| 16 | g.56879110T>A | CA395985684 | SLC12A3 | c.1218T>A (p.Asn406Lys) c.1215T>A (p.Asn405Lys) | |
| 16 | g.56879110T>C | CA495603692 | SLC12A3 | c.1218T>C (p.Asn406=) c.1215T>C (p.Asn405=) | |
| 16 | g.56879110T>G | CA395985686 | SLC12A3 | c.1218T>G (p.Asn406Lys) c.1215T>G (p.Asn405Lys) | |
| 16 | g.56879110_56879111del | CA2697555857 | SLC12A3 | c.1218_1219del (p.Asn406LysfsTer?) c.1215_1216del (p.Asn405LysfsTer?) | ClinVar |
| 16 | g.56879111G>A | CA395985688 | SLC12A3 | c.1219G>A (p.Asp407Asn) c.1216G>A (p.Asp406Asn) | |
| 16 | g.56879111G>C | CA395985690 | SLC12A3 | c.1219G>C (p.Asp407His) c.1216G>C (p.Asp406His) | |
| 16 | g.56879111G>T | CA395985691 | SLC12A3 | c.1219G>T (p.Asp407Tyr) c.1216G>T (p.Asp406Tyr) | |
| 16 | g.56879112A>C | CA395985698 | SLC12A3 | c.1220A>C (p.Asp407Ala) c.1217A>C (p.Asp406Ala) | |
| 16 | g.56879112A>G | CA395985701 | SLC12A3 | c.1220A>G (p.Asp407Gly) c.1217A>G (p.Asp406Gly) | |
| 16 | g.56879112A>T | CA395985693 | SLC12A3 | c.1220A>T (p.Asp407Val) c.1217A>T (p.Asp406Val) | |
| 16 | g.56879115_56879116del | CA645573542 | SLC12A3 | c.1223_1224del (p.Thr408SerfsTer?) c.1220_1221del (p.Thr407SerfsTer?) | COSMIC |
| 16 | g.56879113C>A | CA395985702 | SLC12A3 | c.1221C>A (p.Asp407Glu) c.1218C>A (p.Asp406Glu) | |
| 16 | g.56879113C>G | CA395985704 | SLC12A3 | c.1221C>G (p.Asp407Glu) c.1218C>G (p.Asp406Glu) | |
| 16 | g.56879113C>T | CA495603693 | SLC12A3 | c.1221C>T (p.Asp407=) c.1218C>T (p.Asp406=) | |
| 16 | g.56879114A= | CA2224353742 | SLC12A3 | c.1222A= (p.Thr408=) c.1219A= (p.Thr407=) | |
| 16 | g.56879114A>C | CA395985707 | SLC12A3 | c.1222A>C (p.Thr408Pro) c.1219A>C (p.Thr407Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879114A>G | CA395985708 | SLC12A3 | c.1222A>G (p.Thr408Ala) c.1219A>G (p.Thr407Ala) | |
| 16 | g.56879114A>T | CA395985710 | SLC12A3 | c.1222A>T (p.Thr408Ser) c.1219A>T (p.Thr407Ser) | |
| 16 | g.56879115C>A | CA395985716 | SLC12A3 | c.1223C>A (p.Thr408Lys) c.1220C>A (p.Thr407Lys) | |
| 16 | g.56879115C>G | CA395985714 | SLC12A3 | c.1223C>G (p.Thr408Arg) c.1220C>G (p.Thr407Arg) | |
| 16 | g.56879115C>T | CA395985713 | SLC12A3 | c.1223C>T (p.Thr408Ile) c.1220C>T (p.Thr407Ile) | |
| 16 | g.56879116A= | CA2224353743 | SLC12A3 | c.1224A= (p.Thr408=) c.1221A= (p.Thr407=) | |
| 16 | g.56879116A>C | CA495603694 | SLC12A3 | c.1224A>C (p.Thr408=) c.1221A>C (p.Thr407=) | gnomAD v4 |
| 16 | g.56879116A>G | CA8069404 | SLC12A3 | c.1224A>G (p.Thr408=) c.1221A>G (p.Thr407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879116A>T | CA495603695 | SLC12A3 | c.1224A>T (p.Thr408=) c.1221A>T (p.Thr407=) | |
| 16 | g.56879117G>A | CA395985721 | SLC12A3 | c.1225G>A (p.Val409Met) c.1222G>A (p.Val408Met) | |
| 16 | g.56879117G>C | CA395985723 | SLC12A3 | c.1225G>C (p.Val409Leu) c.1222G>C (p.Val408Leu) | |
| 16 | g.56879117G>T | CA395985726 | SLC12A3 | c.1225G>T (p.Val409Leu) c.1222G>T (p.Val408Leu) | |
| 16 | g.56879118T>A | CA395985728 | SLC12A3 | c.1226T>A (p.Val409Glu) c.1223T>A (p.Val408Glu) | dbSNP gnomAD v4 |
| 16 | g.56879118T>C | CA395985730 | SLC12A3 | c.1226T>C (p.Val409Ala) c.1223T>C (p.Val408Ala) | |
| 16 | g.56879118T>G | CA395985732 | SLC12A3 | c.1226T>G (p.Val409Gly) c.1223T>G (p.Val408Gly) | gnomAD v4 |
| 16 | g.56879118T= | CA2224353744 | SLC12A3 | c.1226T= (p.Val409=) c.1223T= (p.Val408=) | |
| 16 | g.56879119G>A | CA495603696 | SLC12A3 | c.1227G>A (p.Val409=) c.1224G>A (p.Val408=) | |
| 16 | g.56879119G>C | CA495603697 | SLC12A3 | c.1227G>C (p.Val409=) c.1224G>C (p.Val408=) | |
| 16 | g.56879119G>T | CA495603698 | SLC12A3 | c.1227G>T (p.Val409=) c.1224G>T (p.Val408=) | ClinVar |
| 16 | g.56879120A= | CA2224353745 | SLC12A3 | c.1228A= (p.Thr410=) c.1225A= (p.Thr409=) | |
| 16 | g.56879120A>C | CA395985734 | SLC12A3 | c.1228A>C (p.Thr410Pro) c.1225A>C (p.Thr409Pro) | |
| 16 | g.56879120A>G | CA395985738 | SLC12A3 | c.1228A>G (p.Thr410Ala) c.1225A>G (p.Thr409Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879120A>T | CA395985736 | SLC12A3 | c.1228A>T (p.Thr410Ser) c.1225A>T (p.Thr409Ser) | |
| 16 | g.56879121C>A | CA10648642 | SLC12A3 | c.1229C>A (p.Thr410Asn) c.1226C>A (p.Thr409Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879121C= | CA2224353746 | SLC12A3 | c.1229C= (p.Thr410=) c.1226C= (p.Thr409=) | |
| 16 | g.56879121C>G | CA395985741 | SLC12A3 | c.1229C>G (p.Thr410Ser) c.1226C>G (p.Thr409Ser) | |
| 16 | g.56879121C>T | CA395985743 | SLC12A3 | c.1229C>T (p.Thr410Ile) c.1226C>T (p.Thr409Ile) | |
| 16 | g.56879124del | CA2697555859 | SLC12A3 | c.1232del (p.Pro411LeufsTer?) c.1229del (p.Pro410LeufsTer?) | ClinVar |
| 16 | g.56879122C>A | CA495603699 | SLC12A3 | c.1230C>A (p.Thr410=) c.1227C>A (p.Thr409=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879122C= | CA2224353747 | SLC12A3 | c.1230C= (p.Thr410=) c.1227C= (p.Thr409=) | |
| 16 | g.56879122C>G | CA495603700 | SLC12A3 | c.1230C>G (p.Thr410=) c.1227C>G (p.Thr409=) | |
| 16 | g.56879122C>T | CA495603701 | SLC12A3 | c.1230C>T (p.Thr410=) c.1227C>T (p.Thr409=) | ClinVar dbSNP COSMIC |
| 16 | g.56879123C>A | CA395985745 | SLC12A3 | c.1231C>A (p.Pro411Thr) c.1228C>A (p.Pro410Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879123C= | CA2224353748 | SLC12A3 | c.1231C= (p.Pro411=) c.1228C= (p.Pro410=) | |
| 16 | g.56879123C>G | CA395985747 | SLC12A3 | c.1231C>G (p.Pro411Ala) c.1228C>G (p.Pro410Ala) | |
| 16 | g.56879123C>T | CA395985749 | SLC12A3 | c.1231C>T (p.Pro411Ser) c.1228C>T (p.Pro410Ser) | |
| 16 | g.56879124C>A | CA395985751 | SLC12A3 | c.1232C>A (p.Pro411His) c.1229C>A (p.Pro410His) | |
| 16 | g.56879124C>G | CA395985753 | SLC12A3 | c.1232C>G (p.Pro411Arg) c.1229C>G (p.Pro410Arg) | |
| 16 | g.56879124C>T | CA395985755 | SLC12A3 | c.1232C>T (p.Pro411Leu) c.1229C>T (p.Pro410Leu) | gnomAD v4 |
| 16 | g.56879125del | CA2633379313 | SLC12A3 | c.1233del (p.Gly412AlafsTer?) c.1230del (p.Gly411AlafsTer?) | gnomAD v4 |
| 16 | g.56879125T>A | CA495603704 | SLC12A3 | c.1233T>A (p.Pro411=) c.1230T>A (p.Pro410=) | ClinVar dbSNP |
| 16 | g.56879125T>C | CA495603702 | SLC12A3 | c.1233T>C (p.Pro411=) c.1230T>C (p.Pro410=) | |
| 16 | g.56879125T>G | CA495603703 | SLC12A3 | c.1233T>G (p.Pro411=) c.1230T>G (p.Pro410=) | |
| 16 | g.56879126G>A | CA395985757 | SLC12A3 | c.1234G>A (p.Gly412Ser) c.1231G>A (p.Gly411Ser) | |
| 16 | g.56879126G>C | CA395985759 | SLC12A3 | c.1234G>C (p.Gly412Arg) c.1231G>C (p.Gly411Arg) | |
| 16 | g.56879126G>T | CA395985761 | SLC12A3 | c.1234G>T (p.Gly412Cys) c.1231G>T (p.Gly411Cys) | |
| 16 | g.56879126_56879127insACTT | CA2633379324 | SLC12A3 | c.1234_1235insACTT (p.Gly412AspfsTer?) c.1231_1232insACTT (p.Gly411AspfsTer?) | gnomAD v4 |
| 16 | g.56879126_56879127insACTTGACTTCAGACTGAGGACCATGATCTCAGAT | CA2633379327 | SLC12A3 | c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly412AspfsTer6) c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly411AspfsTer6) | gnomAD v4 |
| 16 | g.56879127G>A | CA395985764 | SLC12A3 | c.1235G>A (p.Gly412Asp) c.1232G>A (p.Gly411Asp) | COSMIC |
| 16 | g.56879127G>C | CA395985768 | SLC12A3 | c.1235G>C (p.Gly412Ala) c.1232G>C (p.Gly411Ala) | dbSNP gnomAD v4 |
| 16 | g.56879127G= | CA2224353749 | SLC12A3 | c.1235G= (p.Gly412=) c.1232G= (p.Gly411=) | |
| 16 | g.56879127G>T | CA395985766 | SLC12A3 | c.1235G>T (p.Gly412Val) c.1232G>T (p.Gly411Val) | |
| 16 | g.56879127_56879128insACTTCAGA | CA2633379332 | SLC12A3 | c.1235_1236insACTTCAGA (p.Trp413LeufsTer?) c.1232_1233insACTTCAGA (p.Trp412LeufsTer?) | gnomAD v4 |
| 16 | g.56879128C>A | CA495603705 | SLC12A3 | c.1236C>A (p.Gly412=) c.1233C>A (p.Gly411=) | ClinVar |
| 16 | g.56879128C>G | CA495603706 | SLC12A3 | c.1236C>G (p.Gly412=) c.1233C>G (p.Gly411=) | |
| 16 | g.56879128C>T | CA495603707 | SLC12A3 | c.1236C>T (p.Gly412=) c.1233C>T (p.Gly411=) | ClinVar |
| 16 | g.56879129T>A | CA395985770 | SLC12A3 | c.1237T>A (p.Trp413Arg) c.1234T>A (p.Trp412Arg) | |
| 16 | g.56879129T>C | CA395985772 | SLC12A3 | c.1237T>C (p.Trp413Arg) c.1234T>C (p.Trp412Arg) | |
| 16 | g.56879129T>G | CA395985774 | SLC12A3 | c.1237T>G (p.Trp413Gly) c.1234T>G (p.Trp412Gly) | |
| 16 | g.56879130G>A | CA395985776 | SLC12A3 | c.1238G>A (p.Trp413Ter) c.1235G>A (p.Trp412Ter) | ClinVar dbSNP |
| 16 | g.56879130G>C | CA395985778 | SLC12A3 | c.1238G>C (p.Trp413Ser) c.1235G>C (p.Trp412Ser) | |
| 16 | g.56879130G>T | CA395985780 | SLC12A3 | c.1238G>T (p.Trp413Leu) c.1235G>T (p.Trp412Leu) | |
| 16 | g.56879131G>A | CA395985781 | SLC12A3 | c.1239G>A (p.Trp413Ter) c.1236G>A (p.Trp412Ter) | dbSNP gnomAD v4 |
| 16 | g.56879131G>C | CA395985782 | SLC12A3 | c.1239G>C (p.Trp413Cys) c.1236G>C (p.Trp412Cys) | |
| 16 | g.56879131G>T | CA395985783 | SLC12A3 | c.1239G>T (p.Trp413Cys) c.1236G>T (p.Trp412Cys) | |
| 16 | g.56879132G>A | CA395985785 | SLC12A3 | c.1240G>A (p.Gly414Ser) c.1237G>A (p.Gly413Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879132G>C | CA395985787 | SLC12A3 | c.1240G>C (p.Gly414Arg) c.1237G>C (p.Gly413Arg) | |
| 16 | g.56879132G= | CA2224353750 | SLC12A3 | c.1240G= (p.Gly414=) c.1237G= (p.Gly413=) | |
| 16 | g.56879132G>T | CA395985789 | SLC12A3 | c.1240G>T (p.Gly414Cys) c.1237G>T (p.Gly413Cys) | |
| 16 | g.56879133G>A | CA8069405 | SLC12A3 | c.1241G>A (p.Gly414Asp) c.1238G>A (p.Gly413Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879133G>C | CA395985794 | SLC12A3 | c.1241G>C (p.Gly414Ala) c.1238G>C (p.Gly413Ala) | |
| 16 | g.56879133G= | CA2224353751 | SLC12A3 | c.1241G= (p.Gly414=) c.1238G= (p.Gly413=) | |
| 16 | g.56879133G>T | CA395985791 | SLC12A3 | c.1241G>T (p.Gly414Val) c.1238G>T (p.Gly413Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879133_56879134insACCATGATCTCAGA | CA2633379419 | SLC12A3 | c.1241_1242insACCATGATCTCAGA (p.Ala415ProfsTer2) c.1238_1239insACCATGATCTCAGA (p.Ala414ProfsTer2) | gnomAD v4 |
| 16 | g.56879134T>A | CA495603708 | SLC12A3 | c.1242T>A (p.Gly414=) c.1239T>A (p.Gly413=) | |
| 16 | g.56879134T>C | CA495603709 | SLC12A3 | c.1242T>C (p.Gly414=) c.1239T>C (p.Gly413=) | |
| 16 | g.56879134T>G | CA495603710 | SLC12A3 | c.1242T>G (p.Gly414=) c.1239T>G (p.Gly413=) | |
| 16 | g.56879135G>A | CA395985799 | SLC12A3 | c.1243G>A (p.Ala415Thr) c.1240G>A (p.Ala414Thr) | |
| 16 | g.56879135G>C | CA395985802 | SLC12A3 | c.1243G>C (p.Ala415Pro) c.1240G>C (p.Ala414Pro) | |
| 16 | g.56879135G>T | CA395985804 | SLC12A3 | c.1243G>T (p.Ala415Ser) c.1240G>T (p.Ala414Ser) | |
| 16 | g.56879136C>A | CA395985810 | SLC12A3 | c.1244C>A (p.Ala415Asp) c.1241C>A (p.Ala414Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879136C= | CA2224353752 | SLC12A3 | c.1244C= (p.Ala415=) c.1241C= (p.Ala414=) | |
| 16 | g.56879136C>G | CA395985812 | SLC12A3 | c.1244C>G (p.Ala415Gly) c.1241C>G (p.Ala414Gly) | |
| 16 | g.56879136C>T | CA8069406 | SLC12A3 | c.1244C>T (p.Ala415Val) c.1241C>T (p.Ala414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879137C>A | CA495603711 | SLC12A3 | c.1245C>A (p.Ala415=) c.1242C>A (p.Ala414=) | |
| 16 | g.56879137C= | CA2224353753 | SLC12A3 | c.1245C= (p.Ala415=) c.1242C= (p.Ala414=) | |
| 16 | g.56879137C>G | CA495603712 | SLC12A3 | c.1245C>G (p.Ala415=) c.1242C>G (p.Ala414=) | |
| 16 | g.56879137C>T | CA495603713 | SLC12A3 | c.1245C>T (p.Ala415=) c.1242C>T (p.Ala414=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879138T>A | CA395985818 | SLC12A3 | c.1246T>A (p.Cys416Ser) c.1243T>A (p.Cys415Ser) | |
| 16 | g.56879138T>C | CA395985820 | SLC12A3 | c.1246T>C (p.Cys416Arg) c.1243T>C (p.Cys415Arg) | gnomAD v4 |
| 16 | g.56879138T>G | CA395985821 | SLC12A3 | c.1246T>G (p.Cys416Gly) c.1243T>G (p.Cys415Gly) | |
| 16 | g.56879139G>A | CA395985826 | SLC12A3 | c.1247G>A (p.Cys416Tyr) c.1244G>A (p.Cys415Tyr) | |
| 16 | g.56879139G>C | CA395985828 | SLC12A3 | c.1247G>C (p.Cys416Ser) c.1244G>C (p.Cys415Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879139G= | CA2224353754 | SLC12A3 | c.1247G= (p.Cys416=) c.1244G= (p.Cys415=) | |
| 16 | g.56879139G>T | CA395985830 | SLC12A3 | c.1247G>T (p.Cys416Phe) c.1244G>T (p.Cys415Phe) | |
| 16 | g.56879140C>A | CA395985839 | SLC12A3 | c.1248C>A (p.Cys416Ter) c.1245C>A (p.Cys415Ter) | |
| 16 | g.56879140C= | CA2224353755 | SLC12A3 | c.1248C= (p.Cys416=) c.1245C= (p.Cys415=) | |
| 16 | g.56879140C>G | CA395985836 | SLC12A3 | c.1248C>G (p.Cys416Trp) c.1245C>G (p.Cys415Trp) | |
| 16 | g.56879140C>T | CA10648643 | SLC12A3 | c.1248C>T (p.Cys416=) c.1245C>T (p.Cys415=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879141G>A | CA8069407 | SLC12A3 | c.1249G>A (p.Glu417Lys) c.1246G>A (p.Glu416Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879141G>C | CA395985846 | SLC12A3 | c.1249G>C (p.Glu417Gln) c.1246G>C (p.Glu416Gln) | gnomAD v4 |
| 16 | g.56879141G= | CA2224353756 | SLC12A3 | c.1249G= (p.Glu417=) c.1246G= (p.Glu416=) | |
| 16 | g.56879141G>T | CA395985843 | SLC12A3 | c.1249G>T (p.Glu417Ter) c.1246G>T (p.Glu416Ter) | |
| 16 | g.56879142A>C | CA395985851 | SLC12A3 | c.1250A>C (p.Glu417Ala) c.1247A>C (p.Glu416Ala) | |
| 16 | g.56879142A>G | CA395985857 | SLC12A3 | c.1250A>G (p.Glu417Gly) c.1247A>G (p.Glu416Gly) | |
| 16 | g.56879142A>T | CA395985853 | SLC12A3 | c.1250A>T (p.Glu417Val) c.1247A>T (p.Glu416Val) | |
| 16 | g.56879142_56879143insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT | CA2514633628 | SLC12A3 | c.1250_1251insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu417AspfsTer10) c.1247_1248insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu416AspfsTer10) | |
| 16 | g.56879143G>A | CA495603714 | SLC12A3 | c.1251G>A (p.Glu417=) c.1248G>A (p.Glu416=) | |
| 16 | g.56879143G>C | CA395985860 | SLC12A3 | c.1251G>C (p.Glu417Asp) c.1248G>C (p.Glu416Asp) | |
| 16 | g.56879143G>T | CA395985863 | SLC12A3 | c.1251G>T (p.Glu417Asp) c.1248G>T (p.Glu416Asp) | |
| 16 | g.56879144G>A | CA395985875 | SLC12A3 | c.1252G>A (p.Gly418Arg) c.1249G>A (p.Gly417Arg) | gnomAD v4 |
| 16 | g.56879144G>C | CA395985880 | SLC12A3 | c.1252G>C (p.Gly418Arg) c.1249G>C (p.Gly417Arg) | |
| 16 | g.56879144G>T | CA395985878 | SLC12A3 | c.1252G>T (p.Gly418Trp) c.1249G>T (p.Gly417Trp) | |
| 16 | g.56879145G>A | CA395985884 | SLC12A3 | c.1253G>A (p.Gly418Glu) c.1250G>A (p.Gly417Glu) | |
| 16 | g.56879145G>C | CA395985889 | SLC12A3 | c.1253G>C (p.Gly418Ala) c.1250G>C (p.Gly417Ala) | |
| 16 | g.56879145G= | CA2224353757 | SLC12A3 | c.1253G= (p.Gly418=) c.1250G= (p.Gly417=) | |
| 16 | g.56879145G>T | CA395985886 | SLC12A3 | c.1253G>T (p.Gly418Val) c.1250G>T (p.Gly417Val) | dbSNP gnomAD v2 |
| 16 | g.56879146G>A | CA495603716 | SLC12A3 | c.1254G>A (p.Gly418=) c.1251G>A (p.Gly417=) | ClinVar dbSNP |
| 16 | g.56879146G>C | CA495603717 | SLC12A3 | c.1254G>C (p.Gly418=) c.1251G>C (p.Gly417=) | |
| 16 | g.56879146G= | CA2224353758 | SLC12A3 | c.1254G= (p.Gly418=) c.1251G= (p.Gly417=) | |
| 16 | g.56879146G>T | CA495603715 | SLC12A3 | c.1254G>T (p.Gly418=) c.1251G>T (p.Gly417=) | |
| 16 | g.56879147C>A | CA395985892 | SLC12A3 | c.1255C>A (p.Leu419Met) c.1252C>A (p.Leu418Met) | |
| 16 | g.56879147C= | CA2224353759 | SLC12A3 | c.1255C= (p.Leu419=) c.1252C= (p.Leu418=) | |
| 16 | g.56879147C>G | CA395985894 | SLC12A3 | c.1255C>G (p.Leu419Val) c.1252C>G (p.Leu418Val) | |
| 16 | g.56879147C>T | CA495603718 | SLC12A3 | c.1255C>T (p.Leu419=) c.1252C>T (p.Leu418=) | dbSNP |
| 16 | g.56879150_56879154del | CA495603719 | SLC12A3 | c.1258_1262del (p.Ala420GlnfsTer?) c.1255_1259del (p.Ala419GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879148del | CA2569190929 | SLC12A3 | c.1256del (p.Leu419ArgfsTer29) c.1253del (p.Leu418ArgfsTer29) | ClinVar |
| 16 | g.56879148T>A | CA395985898 | SLC12A3 | c.1256T>A (p.Leu419Gln) c.1253T>A (p.Leu418Gln) | |
| 16 | g.56879148T>C | CA395985900 | SLC12A3 | c.1256T>C (p.Leu419Pro) c.1253T>C (p.Leu418Pro) | |
| 16 | g.56879148T>G | CA395985902 | SLC12A3 | c.1256T>G (p.Leu419Arg) c.1253T>G (p.Leu418Arg) | |
| 16 | g.56879149G>A | CA495603720 | SLC12A3 | c.1257G>A (p.Leu419=) c.1254G>A (p.Leu418=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879149G>C | CA495603721 | SLC12A3 | c.1257G>C (p.Leu419=) c.1254G>C (p.Leu418=) | |
| 16 | g.56879149G= | CA2224353760 | SLC12A3 | c.1257G= (p.Leu419=) c.1254G= (p.Leu418=) | |
| 16 | g.56879149G>T | CA495603722 | SLC12A3 | c.1257G>T (p.Leu419=) c.1254G>T (p.Leu418=) | |
| 16 | g.56879149_56879151dup | CA2695223429 | SLC12A3 | c.1257_1259dup (p.Ala420_Cys421insAla) c.1254_1256dup (p.Ala419_Cys420insAla) | |
| 16 | g.56879150G>A | CA8069408 | SLC12A3 | c.1258G>A (p.Ala420Thr) c.1255G>A (p.Ala419Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879150G>C | CA395985910 | SLC12A3 | c.1258G>C (p.Ala420Pro) c.1255G>C (p.Ala419Pro) | |
| 16 | g.56879150G= | CA2224353761 | SLC12A3 | c.1258G= (p.Ala420=) c.1255G= (p.Ala419=) | |
| 16 | g.56879150G>T | CA395985912 | SLC12A3 | c.1258G>T (p.Ala420Ser) c.1255G>T (p.Ala419Ser) | |
| 16 | g.56879151C>A | CA395985915 | SLC12A3 | c.1259C>A (p.Ala420Asp) c.1256C>A (p.Ala419Asp) | |
| 16 | g.56879151C>G | CA395985918 | SLC12A3 | c.1259C>G (p.Ala420Gly) c.1256C>G (p.Ala419Gly) | |
| 16 | g.56879151C>T | CA395985919 | SLC12A3 | c.1259C>T (p.Ala420Val) c.1256C>T (p.Ala419Val) | |
| 16 | g.56879152C>A | CA495603723 | SLC12A3 | c.1260C>A (p.Ala420=) c.1257C>A (p.Ala419=) | |
| 16 | g.56879152C>G | CA495603724 | SLC12A3 | c.1260C>G (p.Ala420=) c.1257C>G (p.Ala419=) | ClinVar |
| 16 | g.56879152C>T | CA495603725 | SLC12A3 | c.1260C>T (p.Ala420=) c.1257C>T (p.Ala419=) | gnomAD v4 |
| 16 | g.56879153T>A | CA395985923 | SLC12A3 | c.1261T>A (p.Cys421Ser) c.1258T>A (p.Cys420Ser) | |
| 16 | g.56879153T>C | CA119766 | SLC12A3 | c.1261T>C (p.Cys421Arg) c.1258T>C (p.Cys420Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879153T>G | CA395985927 | SLC12A3 | c.1261T>G (p.Cys421Gly) c.1258T>G (p.Cys420Gly) | ClinVar dbSNP |
| 16 | g.56879153T= | CA2224353762 | SLC12A3 | c.1261T= (p.Cys421=) c.1258T= (p.Cys420=) | |
| 16 | g.56879154G>A | CA8069409 | SLC12A3 | c.1262G>A (p.Cys421Tyr) c.1259G>A (p.Cys420Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879154G>C | CA395985930 | SLC12A3 | c.1262G>C (p.Cys421Ser) c.1259G>C (p.Cys420Ser) | |
| 16 | g.56879154G= | CA2224353763 | SLC12A3 | c.1262G= (p.Cys421=) c.1259G= (p.Cys420=) | |
| 16 | g.56879154G>T | CA395985933 | SLC12A3 | c.1262G>T (p.Cys421Phe) c.1259G>T (p.Cys420Phe) | |
| 16 | g.56879155C>A | CA395985938 | SLC12A3 | c.1263C>A (p.Cys421Ter) c.1260C>A (p.Cys420Ter) | gnomAD v4 |
| 16 | g.56879155C= | CA2224353764 | SLC12A3 | c.1263C= (p.Cys421=) c.1260C= (p.Cys420=) | |
| 16 | g.56879155C>G | CA395985939 | SLC12A3 | c.1263C>G (p.Cys421Trp) c.1260C>G (p.Cys420Trp) | |
| 16 | g.56879155C>T | CA495603726 | SLC12A3 | c.1263C>T (p.Cys421=) c.1260C>T (p.Cys420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879156A>C | CA395985944 | SLC12A3 | c.1264A>C (p.Ser422Arg) c.1261A>C (p.Ser421Arg) | |
| 16 | g.56879156A>G | CA395985946 | SLC12A3 | c.1264A>G (p.Ser422Gly) c.1261A>G (p.Ser421Gly) | |
| 16 | g.56879156A>T | CA395985949 | SLC12A3 | c.1264A>T (p.Ser422Cys) c.1261A>T (p.Ser421Cys) | |
| 16 | g.56879157G>A | CA395985953 | SLC12A3 | c.1265G>A (p.Ser422Asn) c.1262G>A (p.Ser421Asn) | |
| 16 | g.56879157G>C | CA395985956 | SLC12A3 | c.1265G>C (p.Ser422Thr) c.1262G>C (p.Ser421Thr) | |
| 16 | g.56879157G>T | CA395985958 | SLC12A3 | c.1265G>T (p.Ser422Ile) c.1262G>T (p.Ser421Ile) | |
| 16 | g.56879158C>A | CA395985962 | SLC12A3 | c.1266C>A (p.Ser422Arg) c.1263C>A (p.Ser421Arg) | |
| 16 | g.56879158C>G | CA395985965 | SLC12A3 | c.1266C>G (p.Ser422Arg) c.1263C>G (p.Ser421Arg) | gnomAD v4 |
| 16 | g.56879158C>T | CA495603727 | SLC12A3 | c.1266C>T (p.Ser422=) c.1263C>T (p.Ser421=) | |
| 16 | g.56879159T>A | CA395985975 | SLC12A3 | c.1267T>A (p.Tyr423Asn) c.1264T>A (p.Tyr422Asn) | |
| 16 | g.56879159T>C | CA395985972 | SLC12A3 | c.1267T>C (p.Tyr423His) c.1264T>C (p.Tyr422His) | |
| 16 | g.56879159T>G | CA395985969 | SLC12A3 | c.1267T>G (p.Tyr423Asp) c.1264T>G (p.Tyr422Asp) | |
| 16 | g.56879160A= | CA2224353765 | SLC12A3 | c.1268A= (p.Tyr423=) c.1265A= (p.Tyr422=) | |
| 16 | g.56879160A>C | CA395985978 | SLC12A3 | c.1268A>C (p.Tyr423Ser) c.1265A>C (p.Tyr422Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879160A>G | CA395985979 | SLC12A3 | c.1268A>G (p.Tyr423Cys) c.1265A>G (p.Tyr422Cys) | dbSNP |
| 16 | g.56879160A>T | CA395985980 | SLC12A3 | c.1268A>T (p.Tyr423Phe) c.1265A>T (p.Tyr422Phe) |