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.56879445_56879503dup | CA2807160410 | SLC12A3 | c.1336-97_1336-39dup (n.1336-97_1336-39dup) c.1333-97_1333-39dup (n.1333-97_1333-39dup) | |
| 16 | g.56879493_56879505delinsTCCTGGCTCAGCC | CA2224353915 | SLC12A3 | c.1336-49_1336-37delinsTCCTGGCTCAGCC (n.1336-49_1336-37delinsTCCTGGCTCAGCC) c.1333-49_1333-37delinsTCCTGGCTCAGCC (n.1333-49_1333-37delinsTCCTGGCTCAGCC) | |
| 16 | g.56879496_56879507del | CA622336485 | SLC12A3 | c.1336-46_1336-35del (n.1336-46_1336-35del) c.1333-46_1333-35del (n.1333-46_1333-35del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879502A>G | CA2576001835 | SLC12A3 | c.1336-40A>G (n.1336-40A>G) c.1333-40A>G (n.1333-40A>G) | gnomAD v4 |
| 16 | g.56879503G>A | CA2633380785 | SLC12A3 | c.1336-39G>A (n.1336-39G>A) c.1333-39G>A (n.1333-39G>A) | gnomAD v4 |
| 16 | g.56879503G>T | CA2633380786 | SLC12A3 | c.1336-39G>T (n.1336-39G>T) c.1333-39G>T (n.1333-39G>T) | gnomAD v4 |
| 16 | g.56879504C>A | CA722009290 | SLC12A3 | c.1336-38C>A (n.1336-38C>A) c.1333-38C>A (n.1333-38C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879504C= | CA2224353921 | SLC12A3 | c.1336-38C= (n.1336-38C=) c.1333-38C= (n.1333-38C=) | |
| 16 | g.56879504C>T | CA8069433 | SLC12A3 | c.1336-38C>T (n.1336-38C>T) c.1333-38C>T (n.1333-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879508del | CA2633380789 | SLC12A3 | c.1336-34del (n.1336-34del) c.1333-34del (n.1333-34del) | gnomAD v4 |
| 16 | g.56879505C>A | CA2633380794 | SLC12A3 | c.1336-37C>A (n.1336-37C>A) c.1333-37C>A (n.1333-37C>A) | gnomAD v4 |
| 16 | g.56879505C= | CA2224353922 | SLC12A3 | c.1336-37C= (n.1336-37C=) c.1333-37C= (n.1333-37C=) | |
| 16 | g.56879505C>T | CA8069434 | SLC12A3 | c.1336-37C>T (n.1336-37C>T) c.1333-37C>T (n.1333-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879506C= | CA2224353923 | SLC12A3 | c.1336-36C= (n.1336-36C=) c.1333-36C= (n.1333-36C=) | |
| 16 | g.56879506C>T | CA2224353924 | SLC12A3 | c.1336-36C>T (n.1336-36C>T) c.1333-36C>T (n.1333-36C>T) | dbSNP gnomAD v4 |
| 16 | g.56879507C>A | CA2224353926 | SLC12A3 | c.1336-35C>A (n.1336-35C>A) c.1333-35C>A (n.1333-35C>A) | dbSNP |
| 16 | g.56879507C= | CA2224353925 | SLC12A3 | c.1336-35C= (n.1336-35C=) c.1333-35C= (n.1333-35C=) | |
| 16 | g.56879507C>G | CA2581264008 | SLC12A3 | c.1336-35C>G (n.1336-35C>G) c.1333-35C>G (n.1333-35C>G) | |
| 16 | g.56879507C>T | CA8069435 | SLC12A3 | c.1336-35C>T (n.1336-35C>T) c.1333-35C>T (n.1333-35C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879508C>A | CA2633380809 | SLC12A3 | c.1336-34C>A (n.1336-34C>A) c.1333-34C>A (n.1333-34C>A) | gnomAD v4 |
| 16 | g.56879509A>C | CA2633380813 | SLC12A3 | c.1336-33A>C (n.1336-33A>C) c.1333-33A>C (n.1333-33A>C) | gnomAD v4 |
| 16 | g.56879510C>A | CA2633380820 | SLC12A3 | c.1336-32C>A (n.1336-32C>A) c.1333-32C>A (n.1333-32C>A) | gnomAD v4 |
| 16 | g.56879510C= | CA2224353927 | SLC12A3 | c.1336-32C= (n.1336-32C=) c.1333-32C= (n.1333-32C=) | |
| 16 | g.56879510C>T | CA622336489 | SLC12A3 | c.1336-32C>T (n.1336-32C>T) c.1333-32C>T (n.1333-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879511C>A | CA8069436 | SLC12A3 | c.1336-31C>A (n.1336-31C>A) c.1333-31C>A (n.1333-31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879511C= | CA2224353928 | SLC12A3 | c.1336-31C= (n.1336-31C=) c.1333-31C= (n.1333-31C=) | |
| 16 | g.56879511C>T | CA8069437 | SLC12A3 | c.1336-31C>T (n.1336-31C>T) c.1333-31C>T (n.1333-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879512G>A | CA8069438 | SLC12A3 | c.1336-30G>A (n.1336-30G>A) c.1333-30G>A (n.1333-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879512G= | CA2224353929 | SLC12A3 | c.1336-30G= (n.1336-30G=) c.1333-30G= (n.1333-30G=) | |
| 16 | g.56879512G>T | CA2633380828 | SLC12A3 | c.1336-30G>T (n.1336-30G>T) c.1333-30G>T (n.1333-30G>T) | gnomAD v4 |
| 16 | g.56879514G>T | CA2633380830 | SLC12A3 | c.1336-28G>T (n.1336-28G>T) c.1333-28G>T (n.1333-28G>T) | gnomAD v4 |
| 16 | g.56879517G>A | CA2633380831 | SLC12A3 | c.1336-25G>A (n.1336-25G>A) c.1333-25G>A (n.1333-25G>A) | gnomAD v4 |
| 16 | g.56879518T>G | CA622336490 | SLC12A3 | c.1336-24T>G (n.1336-24T>G) c.1333-24T>G (n.1333-24T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879518T= | CA2224353930 | SLC12A3 | c.1336-24T= (n.1336-24T=) c.1333-24T= (n.1333-24T=) | |
| 16 | g.56879519C>A | CA2633380833 | SLC12A3 | c.1336-23C>A (n.1336-23C>A) c.1333-23C>A (n.1333-23C>A) | gnomAD v4 |
| 16 | g.56879520C>A | CA2576001836 | SLC12A3 | c.1336-22C>A (n.1336-22C>A) c.1333-22C>A (n.1333-22C>A) | gnomAD v4 |
| 16 | g.56879521C>A | CA2633380834 | SLC12A3 | c.1336-21C>A (n.1336-21C>A) c.1333-21C>A (n.1333-21C>A) | gnomAD v4 |
| 16 | g.56879522T>C | CA2633380835 | SLC12A3 | c.1336-20T>C (n.1336-20T>C) c.1333-20T>C (n.1333-20T>C) | gnomAD v4 |
| 16 | g.56879522T>G | CA2576001837 | SLC12A3 | c.1336-20T>G (n.1336-20T>G) c.1333-20T>G (n.1333-20T>G) | |
| 16 | g.56879525G>T | CA2633380837 | SLC12A3 | c.1336-17G>T (n.1336-17G>T) c.1333-17G>T (n.1333-17G>T) | gnomAD v4 |
| 16 | g.56879526C>A | CA8069439 | SLC12A3 | c.1336-16C>A (n.1336-16C>A) c.1333-16C>A (n.1333-16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879526C= | CA2224353931 | SLC12A3 | c.1336-16C= (n.1336-16C=) c.1333-16C= (n.1333-16C=) | |
| 16 | g.56879526C>T | CA2633380839 | SLC12A3 | c.1336-16C>T (n.1336-16C>T) c.1333-16C>T (n.1333-16C>T) | gnomAD v4 |
| 16 | g.56879527C>A | CA622336493 | SLC12A3 | c.1336-15C>A (n.1336-15C>A) c.1333-15C>A (n.1333-15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879527C= | CA2224353932 | SLC12A3 | c.1336-15C= (n.1336-15C=) c.1333-15C= (n.1333-15C=) | |
| 16 | g.56879527C>T | CA622336495 | SLC12A3 | c.1336-15C>T (n.1336-15C>T) c.1333-15C>T (n.1333-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879529C>T | CA2633380851 | SLC12A3 | c.1336-13C>T (n.1336-13C>T) c.1333-13C>T (n.1333-13C>T) | gnomAD v4 |
| 16 | g.56879531A= | CA2224353933 | SLC12A3 | c.1336-11A= (n.1336-11A=) c.1333-11A= (n.1333-11A=) | |
| 16 | g.56879531A>C | CA2633380853 | SLC12A3 | c.1336-11A>C (n.1336-11A>C) c.1333-11A>C (n.1333-11A>C) | gnomAD v4 |
| 16 | g.56879531A>G | CA722009292 | SLC12A3 | c.1336-11A>G (n.1336-11A>G) c.1333-11A>G (n.1333-11A>G) | dbSNP |
| 16 | g.56879531A>T | CA2576001838 | SLC12A3 | c.1336-11A>T (n.1336-11A>T) c.1333-11A>T (n.1333-11A>T) | ClinVar |
| 16 | g.56879533T>C | CA622336496 | SLC12A3 | c.1336-9T>C (n.1336-9T>C) c.1333-9T>C (n.1333-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879533T= | CA2224353934 | SLC12A3 | c.1336-9T= (n.1336-9T=) c.1333-9T= (n.1333-9T=) | |
| 16 | g.56879534C>A | CA2576001839 | SLC12A3 | c.1336-8C>A (n.1336-8C>A) c.1333-8C>A (n.1333-8C>A) | gnomAD v4 |
| 16 | g.56879537del | CA2633380857 | SLC12A3 | c.1336-5del (n.1336-5del) c.1333-5del (n.1333-5del) | gnomAD v4 |
| 16 | g.56879535C>A | CA2633380858 | SLC12A3 | c.1336-7C>A (n.1336-7C>A) c.1333-7C>A (n.1333-7C>A) | gnomAD v4 |
| 16 | g.56879535C>T | CA2697555866 | SLC12A3 | c.1336-7C>T (n.1336-7C>T) c.1333-7C>T (n.1333-7C>T) | ClinVar |
| 16 | g.56879537C>A | CA2633380861 | SLC12A3 | c.1336-5C>A (n.1336-5C>A) c.1333-5C>A (n.1333-5C>A) | gnomAD v4 |
| 16 | g.56879538A>G | CA2633380866 | SLC12A3 | c.1336-4A>G (n.1336-4A>G) c.1333-4A>G (n.1333-4A>G) | gnomAD v4 |
| 16 | g.56879539C>A | CA915949273 | SLC12A3 | c.1336-3C>A (n.1336-3C>A) c.1333-3C>A (n.1333-3C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879539C= | CA2224353935 | SLC12A3 | c.1336-3C= (n.1336-3C=) c.1333-3C= (n.1333-3C=) | |
| 16 | g.56879539C>T | CA495603767 | SLC12A3 | c.1336-3C>T (n.1336-3C>T) c.1333-3C>T (n.1333-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879540A>C | CA395987157 | SLC12A3 | c.1336-2A>C (n.1336-2A>C) c.1333-2A>C (n.1333-2A>C) | |
| 16 | g.56879540A>G | CA395987160 | SLC12A3 | c.1336-2A>G (n.1336-2A>G) c.1333-2A>G (n.1333-2A>G) | gnomAD v4 |
| 16 | g.56879540A>T | CA395987163 | SLC12A3 | c.1336-2A>T (n.1336-2A>T) c.1333-2A>T (n.1333-2A>T) | |
| 16 | g.56879540dup | CA2576001841 | SLC12A3 | c.1336-2dup (n.1336-2dup) c.1333-2dup (n.1333-2dup) | |
| 16 | g.56879541G>A | CA395987169 | SLC12A3 | c.1336-1G>A (n.1336-1G>A) c.1333-1G>A (n.1333-1G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879541G>C | CA395987172 | SLC12A3 | c.1336-1G>C (n.1336-1G>C) c.1333-1G>C (n.1333-1G>C) | |
| 16 | g.56879541G>T | CA395987174 | SLC12A3 | c.1336-1G>T (n.1336-1G>T) c.1333-1G>T (n.1333-1G>T) | gnomAD v4 |
| 16 | g.56879542A>C | CA395987184 | SLC12A3 | c.1336A>C (p.Thr446Pro) c.1333A>C (p.Thr445Pro) | |
| 16 | g.56879542A>G | CA395987182 | SLC12A3 | c.1336A>G (p.Thr446Ala) c.1333A>G (p.Thr445Ala) | |
| 16 | g.56879542A>T | CA395987178 | SLC12A3 | c.1336A>T (p.Thr446Ser) c.1333A>T (p.Thr445Ser) | |
| 16 | g.56879542_56879543delinsAC | CA2224353936 | SLC12A3 | c.1336_1337delinsAC (p.Thr446=) c.1333_1334delinsAC (p.Thr445=) | |
| 16 | g.56879543C>A | CA395987189 | SLC12A3 | c.1337C>A (p.Thr446Asn) c.1334C>A (p.Thr445Asn) | |
| 16 | g.56879543C= | CA2224353937 | SLC12A3 | c.1337C= (p.Thr446=) c.1334C= (p.Thr445=) | |
| 16 | g.56879543C>G | CA395987193 | SLC12A3 | c.1337C>G (p.Thr446Ser) c.1334C>G (p.Thr445Ser) | |
| 16 | g.56879543C>T | CA395987195 | SLC12A3 | c.1337C>T (p.Thr446Ile) c.1334C>T (p.Thr445Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879544del | CA10602714 | SLC12A3 | c.1338del (p.Met447Ter) c.1335del (p.Met446Ter) | ClinVar dbSNP |
| 16 | g.56879544C>A | CA495603769 | SLC12A3 | c.1338C>A (p.Thr446=) c.1335C>A (p.Thr445=) | |
| 16 | g.56879544C= | CA2224353938 | SLC12A3 | c.1338C= (p.Thr446=) c.1335C= (p.Thr445=) | |
| 16 | g.56879544C>G | CA495603768 | SLC12A3 | c.1338C>G (p.Thr446=) c.1335C>G (p.Thr445=) | |
| 16 | g.56879544C>T | CA281501389 | SLC12A3 | c.1338C>T (p.Thr446=) c.1335C>T (p.Thr445=) | dbSNP |
| 16 | g.56879545A>C | CA395987199 | SLC12A3 | c.1339A>C (p.Met447Leu) c.1336A>C (p.Met446Leu) | |
| 16 | g.56879545A>G | CA395987202 | SLC12A3 | c.1339A>G (p.Met447Val) c.1336A>G (p.Met446Val) | |
| 16 | g.56879545A>T | CA395987203 | SLC12A3 | c.1339A>T (p.Met447Leu) c.1336A>T (p.Met446Leu) | |
| 16 | g.56879546T>A | CA395987207 | SLC12A3 | c.1340T>A (p.Met447Lys) c.1337T>A (p.Met446Lys) | |
| 16 | g.56879546T>C | CA395987211 | SLC12A3 | c.1340T>C (p.Met447Thr) c.1337T>C (p.Met446Thr) | gnomAD v4 |
| 16 | g.56879546T>G | CA395987214 | SLC12A3 | c.1340T>G (p.Met447Arg) c.1337T>G (p.Met446Arg) | gnomAD v4 |
| 16 | g.56879547G>A | CA395987218 | SLC12A3 | c.1341G>A (p.Met447Ile) c.1338G>A (p.Met446Ile) | dbSNP gnomAD v4 |
| 16 | g.56879547G>C | CA395987221 | SLC12A3 | c.1341G>C (p.Met447Ile) c.1338G>C (p.Met446Ile) | dbSNP |
| 16 | g.56879547G= | CA2224353939 | SLC12A3 | c.1341G= (p.Met447=) c.1338G= (p.Met446=) | |
| 16 | g.56879547G>T | CA395987224 | SLC12A3 | c.1341G>T (p.Met447Ile) c.1338G>T (p.Met446Ile) | |
| 16 | g.56879548A= | CA2224353940 | SLC12A3 | c.1342A= (p.Ser448=) c.1339A= (p.Ser447=) | |
| 16 | g.56879548A>C | CA281501392 | SLC12A3 | c.1342A>C (p.Ser448Arg) c.1339A>C (p.Ser447Arg) | dbSNP gnomAD v4 |
| 16 | g.56879548A>G | CA395987228 | SLC12A3 | c.1342A>G (p.Ser448Gly) c.1339A>G (p.Ser447Gly) | |
| 16 | g.56879548A>T | CA395987230 | SLC12A3 | c.1342A>T (p.Ser448Cys) c.1339A>T (p.Ser447Cys) | |
| 16 | g.56879549G>A | CA395987242 | SLC12A3 | c.1343G>A (p.Ser448Asn) c.1340G>A (p.Ser447Asn) | gnomAD v4 |
| 16 | g.56879549G>C | CA395987241 | SLC12A3 | c.1343G>C (p.Ser448Thr) c.1340G>C (p.Ser447Thr) | |
| 16 | g.56879549G>T | CA395987231 | SLC12A3 | c.1343G>T (p.Ser448Ile) c.1340G>T (p.Ser447Ile) | |
| 16 | g.56879550C>A | CA281501394 | SLC12A3 | c.1344C>A (p.Ser448Arg) c.1341C>A (p.Ser447Arg) | dbSNP gnomAD v4 |
| 16 | g.56879550C= | CA2224353941 | SLC12A3 | c.1344C= (p.Ser448=) c.1341C= (p.Ser447=) | |
| 16 | g.56879550C>G | CA395987249 | SLC12A3 | c.1344C>G (p.Ser448Arg) c.1341C>G (p.Ser447Arg) | |
| 16 | g.56879550C>T | CA495603770 | SLC12A3 | c.1344C>T (p.Ser448=) c.1341C>T (p.Ser447=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879551A>C | CA395987252 | SLC12A3 | c.1345A>C (p.Met449Leu) c.1342A>C (p.Met448Leu) | |
| 16 | g.56879551A>G | CA395987255 | SLC12A3 | c.1345A>G (p.Met449Val) c.1342A>G (p.Met448Val) | gnomAD v4 |
| 16 | g.56879551A>T | CA395987258 | SLC12A3 | c.1345A>T (p.Met449Leu) c.1342A>T (p.Met448Leu) | |
| 16 | g.56879552T>A | CA395987263 | SLC12A3 | c.1346T>A (p.Met449Lys) c.1343T>A (p.Met448Lys) | |
| 16 | g.56879552T>C | CA395987265 | SLC12A3 | c.1346T>C (p.Met449Thr) c.1343T>C (p.Met448Thr) | dbSNP |
| 16 | g.56879552T>G | CA395987268 | SLC12A3 | c.1346T>G (p.Met449Arg) c.1343T>G (p.Met448Arg) | |
| 16 | g.56879552T= | CA2224353942 | SLC12A3 | c.1346T= (p.Met449=) c.1343T= (p.Met448=) | |
| 16 | g.56879553G>A | CA395987271 | SLC12A3 | c.1347G>A (p.Met449Ile) c.1344G>A (p.Met448Ile) | dbSNP |
| 16 | g.56879553G>C | CA395987274 | SLC12A3 | c.1347G>C (p.Met449Ile) c.1344G>C (p.Met448Ile) | |
| 16 | g.56879553G= | CA2224353943 | SLC12A3 | c.1347G= (p.Met449=) c.1344G= (p.Met448=) | |
| 16 | g.56879553G>T | CA395987277 | SLC12A3 | c.1347G>T (p.Met449Ile) c.1344G>T (p.Met448Ile) | |
| 16 | g.56879554G>A | CA8069440 | SLC12A3 | c.1348G>A (p.Val450Met) c.1345G>A (p.Val449Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879554G>C | CA395987279 | SLC12A3 | c.1348G>C (p.Val450Leu) c.1345G>C (p.Val449Leu) | |
| 16 | g.56879554G= | CA2224353944 | SLC12A3 | c.1348G= (p.Val450=) c.1345G= (p.Val449=) | |
| 16 | g.56879554G>T | CA395987280 | SLC12A3 | c.1348G>T (p.Val450Leu) c.1345G>T (p.Val449Leu) | gnomAD v4 |
| 16 | g.56879555T>A | CA395987290 | SLC12A3 | c.1349T>A (p.Val450Glu) c.1346T>A (p.Val449Glu) | |
| 16 | g.56879555T>C | CA395987287 | SLC12A3 | c.1349T>C (p.Val450Ala) c.1346T>C (p.Val449Ala) | gnomAD v4 |
| 16 | g.56879555T>G | CA395987283 | SLC12A3 | c.1349T>G (p.Val450Gly) c.1346T>G (p.Val449Gly) | ClinVar dbSNP |
| 16 | g.56879556G>A | CA495603771 | SLC12A3 | c.1350G>A (p.Val450=) c.1347G>A (p.Val449=) | gnomAD v4 |
| 16 | g.56879556G>C | CA495603772 | SLC12A3 | c.1350G>C (p.Val450=) c.1347G>C (p.Val449=) | |
| 16 | g.56879556G>T | CA495603773 | SLC12A3 | c.1350G>T (p.Val450=) c.1347G>T (p.Val449=) | gnomAD v4 |
| 16 | g.56879557T>A | CA395987295 | SLC12A3 | c.1351T>A (p.Ser451Thr) c.1348T>A (p.Ser450Thr) | gnomAD v4 |
| 16 | g.56879557T>C | CA395987298 | SLC12A3 | c.1351T>C (p.Ser451Pro) c.1348T>C (p.Ser450Pro) | gnomAD v4 |
| 16 | g.56879557T>G | CA395987300 | SLC12A3 | c.1351T>G (p.Ser451Ala) c.1348T>G (p.Ser450Ala) | |
| 16 | g.56879558C>A | CA395987302 | SLC12A3 | c.1352C>A (p.Ser451Ter) c.1349C>A (p.Ser450Ter) | |
| 16 | g.56879558C>G | CA395987304 | SLC12A3 | c.1352C>G (p.Ser451Ter) c.1349C>G (p.Ser450Ter) | |
| 16 | g.56879558C>T | CA395987308 | SLC12A3 | c.1352C>T (p.Ser451Leu) c.1349C>T (p.Ser450Leu) | |
| 16 | g.56879559A>C | CA495603774 | SLC12A3 | c.1353A>C (p.Ser451=) c.1350A>C (p.Ser450=) | |
| 16 | g.56879559A>G | CA495603777 | SLC12A3 | c.1353A>G (p.Ser451=) c.1350A>G (p.Ser450=) | |
| 16 | g.56879559A>T | CA495603775 | SLC12A3 | c.1353A>T (p.Ser451=) c.1350A>T (p.Ser450=) | |
| 16 | g.56879560G>A | CA395987312 | SLC12A3 | c.1354G>A (p.Gly452Ser) c.1351G>A (p.Gly451Ser) | |
| 16 | g.56879560G>C | CA395987315 | SLC12A3 | c.1354G>C (p.Gly452Arg) c.1351G>C (p.Gly451Arg) | |
| 16 | g.56879560G>T | CA395987318 | SLC12A3 | c.1354G>T (p.Gly452Cys) c.1351G>T (p.Gly451Cys) | |
| 16 | g.56879561G>A | CA395987320 | SLC12A3 | c.1355G>A (p.Gly452Asp) c.1352G>A (p.Gly451Asp) | |
| 16 | g.56879561G>C | CA395987322 | SLC12A3 | c.1355G>C (p.Gly452Ala) c.1352G>C (p.Gly451Ala) | |
| 16 | g.56879561G>T | CA395987325 | SLC12A3 | c.1355G>T (p.Gly452Val) c.1352G>T (p.Gly451Val) | gnomAD v4 |
| 16 | g.56879562C>A | CA495603778 | SLC12A3 | c.1356C>A (p.Gly452=) c.1353C>A (p.Gly451=) | gnomAD v4 |
| 16 | g.56879562C>G | CA495603779 | SLC12A3 | c.1356C>G (p.Gly452=) c.1353C>G (p.Gly451=) | |
| 16 | g.56879562C>T | CA495603780 | SLC12A3 | c.1356C>T (p.Gly452=) c.1353C>T (p.Gly451=) | COSMIC |
| 16 | g.56879563T>A | CA395987330 | SLC12A3 | c.1357T>A (p.Phe453Ile) c.1354T>A (p.Phe452Ile) | |
| 16 | g.56879563T>C | CA395987329 | SLC12A3 | c.1357T>C (p.Phe453Leu) c.1354T>C (p.Phe452Leu) | |
| 16 | g.56879563T>G | CA395987327 | SLC12A3 | c.1357T>G (p.Phe453Val) c.1354T>G (p.Phe452Val) | |
| 16 | g.56879564T>A | CA395987333 | SLC12A3 | c.1358T>A (p.Phe453Tyr) c.1355T>A (p.Phe452Tyr) | |
| 16 | g.56879564T>C | CA395987335 | SLC12A3 | c.1358T>C (p.Phe453Ser) c.1355T>C (p.Phe452Ser) | |
| 16 | g.56879564T>G | CA395987338 | SLC12A3 | c.1358T>G (p.Phe453Cys) c.1355T>G (p.Phe452Cys) | |
| 16 | g.56879565C>A | CA395987342 | SLC12A3 | c.1359C>A (p.Phe453Leu) c.1356C>A (p.Phe452Leu) | |
| 16 | g.56879565C= | CA2224353945 | SLC12A3 | c.1359C= (p.Phe453=) c.1356C= (p.Phe452=) | |
| 16 | g.56879565C>G | CA395987345 | SLC12A3 | c.1359C>G (p.Phe453Leu) c.1356C>G (p.Phe452Leu) | |
| 16 | g.56879565C>T | CA8069441 | SLC12A3 | c.1359C>T (p.Phe453=) c.1356C>T (p.Phe452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56879566G>A | CA8069442 | SLC12A3 | c.1360G>A (p.Ala454Thr) c.1357G>A (p.Ala453Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879566G>C | CA395987349 | SLC12A3 | c.1360G>C (p.Ala454Pro) c.1357G>C (p.Ala453Pro) | gnomAD v4 |
| 16 | g.56879566G= | CA2224353946 | SLC12A3 | c.1360G= (p.Ala454=) c.1357G= (p.Ala453=) | |
| 16 | g.56879566G>T | CA395987352 | SLC12A3 | c.1360G>T (p.Ala454Ser) c.1357G>T (p.Ala453Ser) | |
| 16 | g.56879567C>A | CA8069444 | SLC12A3 | c.1361C>A (p.Ala454Glu) c.1358C>A (p.Ala453Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879567C= | CA2224353947 | SLC12A3 | c.1361C= (p.Ala454=) c.1358C= (p.Ala453=) | |
| 16 | g.56879567C>G | CA395987358 | SLC12A3 | c.1361C>G (p.Ala454Gly) c.1358C>G (p.Ala453Gly) | |
| 16 | g.56879567C>T | CA8069443 | SLC12A3 | c.1361C>T (p.Ala454Val) c.1358C>T (p.Ala453Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879568G>A | CA8069445 | SLC12A3 | c.1362G>A (p.Ala454=) c.1359G>A (p.Ala453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879568G>C | CA495603781 | SLC12A3 | c.1362G>C (p.Ala454=) c.1359G>C (p.Ala453=) | |
| 16 | g.56879568G= | CA2224353948 | SLC12A3 | c.1362G= (p.Ala454=) c.1359G= (p.Ala453=) | |
| 16 | g.56879568G>T | CA495603782 | SLC12A3 | c.1362G>T (p.Ala454=) c.1359G>T (p.Ala453=) | |
| 16 | g.56879568_56879569delinsGC | CA2224353949 | SLC12A3 | c.1362_1363delinsGC (p.Ala454=) c.1359_1360delinsGC (p.Ala453=) | |
| 16 | g.56879569C>A | CA395987369 | SLC12A3 | c.1363C>A (p.Pro455Thr) c.1360C>A (p.Pro454Thr) | |
| 16 | g.56879569C= | CA2224353951 | SLC12A3 | c.1363C= (p.Pro455=) c.1360C= (p.Pro454=) | |
| 16 | g.56879569C>G | CA395987372 | SLC12A3 | c.1363C>G (p.Pro455Ala) c.1360C>G (p.Pro454Ala) | |
| 16 | g.56879569C>T | CA8069446 | SLC12A3 | c.1363C>T (p.Pro455Ser) c.1360C>T (p.Pro454Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879572dup | CA2224353950 | SLC12A3 | c.1366dup (p.Leu456ProfsTer?) c.1363dup (p.Leu455ProfsTer?) | dbSNP |
| 16 | g.56879572del | CA722009307 | SLC12A3 | c.1366del (p.Leu456Ter) c.1363del (p.Leu455Ter) | dbSNP |
| 16 | g.56879570C>A | CA395987375 | SLC12A3 | c.1364C>A (p.Pro455His) c.1361C>A (p.Pro454His) | |
| 16 | g.56879570C>G | CA395987380 | SLC12A3 | c.1364C>G (p.Pro455Arg) c.1361C>G (p.Pro454Arg) | |
| 16 | g.56879570C>T | CA395987378 | SLC12A3 | c.1364C>T (p.Pro455Leu) c.1361C>T (p.Pro454Leu) | |
| 16 | g.56879571C>A | CA495603785 | SLC12A3 | c.1365C>A (p.Pro455=) c.1362C>A (p.Pro454=) | |
| 16 | g.56879571C>G | CA495603783 | SLC12A3 | c.1365C>G (p.Pro455=) c.1362C>G (p.Pro454=) | |
| 16 | g.56879571C>T | CA495603784 | SLC12A3 | c.1365C>T (p.Pro455=) c.1362C>T (p.Pro454=) | |
| 16 | g.56879572C>A | CA395987384 | SLC12A3 | c.1366C>A (p.Leu456Met) c.1363C>A (p.Leu455Met) | |
| 16 | g.56879572C>G | CA395987387 | SLC12A3 | c.1366C>G (p.Leu456Val) c.1363C>G (p.Leu455Val) | |
| 16 | g.56879572C>T | CA495603786 | SLC12A3 | c.1366C>T (p.Leu456=) c.1363C>T (p.Leu455=) | COSMIC |
| 16 | g.56879572_56879573delinsCT | CA2224353952 | SLC12A3 | c.1366_1367delinsCT (p.Leu456=) c.1363_1364delinsCT (p.Leu455=) | |
| 16 | g.56879573del | CA977644008 | SLC12A3 | c.1367del (p.Leu456ArgfsTer?) c.1364del (p.Leu455ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879573T>A | CA395987392 | SLC12A3 | c.1367T>A (p.Leu456Gln) c.1364T>A (p.Leu455Gln) | |
| 16 | g.56879573T>C | CA395987394 | SLC12A3 | c.1367T>C (p.Leu456Pro) c.1364T>C (p.Leu455Pro) | |
| 16 | g.56879573T>G | CA395987397 | SLC12A3 | c.1367T>G (p.Leu456Arg) c.1364T>G (p.Leu455Arg) | |
| 16 | g.56879574G>A | CA8069447 | SLC12A3 | c.1368G>A (p.Leu456=) c.1365G>A (p.Leu455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879574G>C | CA495603788 | SLC12A3 | c.1368G>C (p.Leu456=) c.1365G>C (p.Leu455=) | |
| 16 | g.56879574G= | CA2224353953 | SLC12A3 | c.1368G= (p.Leu456=) c.1365G= (p.Leu455=) | |
| 16 | g.56879574G>T | CA495603789 | SLC12A3 | c.1368G>T (p.Leu456=) c.1365G>T (p.Leu455=) | |
| 16 | g.56879575A>C | CA395987405 | SLC12A3 | c.1369A>C (p.Ile457Leu) c.1366A>C (p.Ile456Leu) | |
| 16 | g.56879575A>G | CA395987407 | SLC12A3 | c.1369A>G (p.Ile457Val) c.1366A>G (p.Ile456Val) | |
| 16 | g.56879575A>T | CA395987409 | SLC12A3 | c.1369A>T (p.Ile457Phe) c.1366A>T (p.Ile456Phe) | |
| 16 | g.56879576T>A | CA395987411 | SLC12A3 | c.1370T>A (p.Ile457Asn) c.1367T>A (p.Ile456Asn) | |
| 16 | g.56879576T>C | CA395987413 | SLC12A3 | c.1370T>C (p.Ile457Thr) c.1367T>C (p.Ile456Thr) | |
| 16 | g.56879576T>G | CA395987415 | SLC12A3 | c.1370T>G (p.Ile457Ser) c.1367T>G (p.Ile456Ser) | |
| 16 | g.56879577C>A | CA495603790 | SLC12A3 | c.1371C>A (p.Ile457=) c.1368C>A (p.Ile456=) | |
| 16 | g.56879577C= | CA2224353954 | SLC12A3 | c.1371C= (p.Ile457=) c.1368C= (p.Ile456=) | |
| 16 | g.56879577C>G | CA395987419 | SLC12A3 | c.1371C>G (p.Ile457Met) c.1368C>G (p.Ile456Met) | |
| 16 | g.56879577C>T | CA495603791 | SLC12A3 | c.1371C>T (p.Ile457=) c.1368C>T (p.Ile456=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879578A>C | CA395987423 | SLC12A3 | c.1372A>C (p.Thr458Pro) c.1369A>C (p.Thr457Pro) | |
| 16 | g.56879578A>G | CA395987425 | SLC12A3 | c.1372A>G (p.Thr458Ala) c.1369A>G (p.Thr457Ala) | |
| 16 | g.56879578A>T | CA395987428 | SLC12A3 | c.1372A>T (p.Thr458Ser) c.1369A>T (p.Thr457Ser) | |
| 16 | g.56879579del | CA2633380969 | SLC12A3 | c.1373del (p.Thr458ArgfsTer?) c.1370del (p.Thr457ArgfsTer?) | gnomAD v4 |
| 16 | g.56879579C>A | CA395987433 | SLC12A3 | c.1373C>A (p.Thr458Lys) c.1370C>A (p.Thr457Lys) | |
| 16 | g.56879579C= | CA2224353955 | SLC12A3 | c.1373C= (p.Thr458=) c.1370C= (p.Thr457=) | |
| 16 | g.56879579C>G | CA395987435 | SLC12A3 | c.1373C>G (p.Thr458Arg) c.1370C>G (p.Thr457Arg) | |
| 16 | g.56879579C>T | CA8069448 | SLC12A3 | c.1373C>T (p.Thr458Met) c.1370C>T (p.Thr457Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879580G>A | CA8069449 | SLC12A3 | c.1374G>A (p.Thr458=) c.1371G>A (p.Thr457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879580G>C | CA495603792 | SLC12A3 | c.1374G>C (p.Thr458=) c.1371G>C (p.Thr457=) | dbSNP |
| 16 | g.56879580G= | CA2224353956 | SLC12A3 | c.1374G= (p.Thr458=) c.1371G= (p.Thr457=) | |
| 16 | g.56879580G>T | CA495603793 | SLC12A3 | c.1374G>T (p.Thr458=) c.1371G>T (p.Thr457=) | |
| 16 | g.56879581G>A | CA395987443 | SLC12A3 | c.1375G>A (p.Ala459Thr) c.1372G>A (p.Ala458Thr) | |
| 16 | g.56879581G>C | CA395987446 | SLC12A3 | c.1375G>C (p.Ala459Pro) c.1372G>C (p.Ala458Pro) | |
| 16 | g.56879581G= | CA2224353957 | SLC12A3 | c.1375G= (p.Ala459=) c.1372G= (p.Ala458=) | |
| 16 | g.56879581G>T | CA395987448 | SLC12A3 | c.1375G>T (p.Ala459Ser) c.1372G>T (p.Ala458Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879582C>A | CA395987452 | SLC12A3 | c.1376C>A (p.Ala459Asp) c.1373C>A (p.Ala458Asp) | |
| 16 | g.56879582C>G | CA395987454 | SLC12A3 | c.1376C>G (p.Ala459Gly) c.1373C>G (p.Ala458Gly) | |
| 16 | g.56879582C>T | CA395987457 | SLC12A3 | c.1376C>T (p.Ala459Val) c.1373C>T (p.Ala458Val) | |
| 16 | g.56879583T>A | CA495603794 | SLC12A3 | c.1377T>A (p.Ala459=) c.1374T>A (p.Ala458=) | |
| 16 | g.56879583T>C | CA495603795 | SLC12A3 | c.1377T>C (p.Ala459=) c.1374T>C (p.Ala458=) | |
| 16 | g.56879583T>G | CA495603796 | SLC12A3 | c.1377T>G (p.Ala459=) c.1374T>G (p.Ala458=) | |
| 16 | g.56879584G>A | CA395987464 | SLC12A3 | c.1378G>A (p.Gly460Ser) c.1375G>A (p.Gly459Ser) | ClinVar dbSNP |
| 16 | g.56879584G>C | CA395987471 | SLC12A3 | c.1378G>C (p.Gly460Arg) c.1375G>C (p.Gly459Arg) | |
| 16 | g.56879584G= | CA2224353958 | SLC12A3 | c.1378G= (p.Gly460=) c.1375G= (p.Gly459=) | |
| 16 | g.56879584G>T | CA395987467 | SLC12A3 | c.1378G>T (p.Gly460Cys) c.1375G>T (p.Gly459Cys) | |
| 16 | g.56879585del | CA2695223434 | SLC12A3 | c.1379del (p.Gly460AlafsTer?) c.1376del (p.Gly459AlafsTer?) | |
| 16 | g.56879585G>A | CA395987474 | SLC12A3 | c.1379G>A (p.Gly460Asp) c.1376G>A (p.Gly459Asp) | |
| 16 | g.56879585G>C | CA395987477 | SLC12A3 | c.1379G>C (p.Gly460Ala) c.1376G>C (p.Gly459Ala) | gnomAD v4 |
| 16 | g.56879585G= | CA2224353959 | SLC12A3 | c.1379G= (p.Gly460=) c.1376G= (p.Gly459=) | |
| 16 | g.56879585G>T | CA395987480 | SLC12A3 | c.1379G>T (p.Gly460Val) c.1376G>T (p.Gly459Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879586C>A | CA495603797 | SLC12A3 | c.1380C>A (p.Gly460=) c.1377C>A (p.Gly459=) | |
| 16 | g.56879586C>G | CA495603798 | SLC12A3 | c.1380C>G (p.Gly460=) c.1377C>G (p.Gly459=) | |
| 16 | g.56879586C>T | CA495603799 | SLC12A3 | c.1380C>T (p.Gly460=) c.1377C>T (p.Gly459=) | ClinVar |
| 16 | g.56879587_56879592dup | CA2633380987 | SLC12A3 | c.1381_1386dup (p.Phe462_Gly463insIlePhe) c.1378_1383dup (p.Phe461_Gly462insIlePhe) | gnomAD v4 |
| 16 | g.56879587A= | CA2224353960 | SLC12A3 | c.1381A= (p.Ile461=) c.1378A= (p.Ile460=) | |
| 16 | g.56879587A>C | CA395987483 | SLC12A3 | c.1381A>C (p.Ile461Leu) c.1378A>C (p.Ile460Leu) | gnomAD v4 |
| 16 | g.56879587A>G | CA281501413 | SLC12A3 | c.1381A>G (p.Ile461Val) c.1378A>G (p.Ile460Val) | dbSNP gnomAD v4 |
| 16 | g.56879587A>T | CA395987488 | SLC12A3 | c.1381A>T (p.Ile461Phe) c.1378A>T (p.Ile460Phe) | |
| 16 | g.56879588T>A | CA395987493 | SLC12A3 | c.1382T>A (p.Ile461Asn) c.1379T>A (p.Ile460Asn) | |
| 16 | g.56879588T>C | CA395987495 | SLC12A3 | c.1382T>C (p.Ile461Thr) c.1379T>C (p.Ile460Thr) | |
| 16 | g.56879588T>G | CA395987499 | SLC12A3 | c.1382T>G (p.Ile461Ser) c.1379T>G (p.Ile460Ser) | |
| 16 | g.56879588_56879593del | CA2633380993 | SLC12A3 | c.1382_1387del (p.Ile461_Gly463delinsArg) c.1379_1384del (p.Ile460_Gly462delinsArg) | gnomAD v4 |
| 16 | g.56879589C>A | CA495603800 | SLC12A3 | c.1383C>A (p.Ile461=) c.1380C>A (p.Ile460=) | |
| 16 | g.56879589C>G | CA395987502 | SLC12A3 | c.1383C>G (p.Ile461Met) c.1380C>G (p.Ile460Met) | |
| 16 | g.56879589C>T | CA495603801 | SLC12A3 | c.1383C>T (p.Ile461=) c.1380C>T (p.Ile460=) | gnomAD v4 |
| 16 | g.56879590T>A | CA395987504 | SLC12A3 | c.1384T>A (p.Phe462Ile) c.1381T>A (p.Phe461Ile) | |
| 16 | g.56879590T>C | CA395987508 | SLC12A3 | c.1384T>C (p.Phe462Leu) c.1381T>C (p.Phe461Leu) | dbSNP gnomAD v4 |
| 16 | g.56879590T>G | CA395987511 | SLC12A3 | c.1384T>G (p.Phe462Val) c.1381T>G (p.Phe461Val) | |
| 16 | g.56879590T= | CA2224353961 | SLC12A3 | c.1384T= (p.Phe462=) c.1381T= (p.Phe461=) | |
| 16 | g.56879591T>A | CA395987515 | SLC12A3 | c.1385T>A (p.Phe462Tyr) c.1382T>A (p.Phe461Tyr) | |
| 16 | g.56879591T>C | CA395987521 | SLC12A3 | c.1385T>C (p.Phe462Ser) c.1382T>C (p.Phe461Ser) | |
| 16 | g.56879591T>G | CA395987518 | SLC12A3 | c.1385T>G (p.Phe462Cys) c.1382T>G (p.Phe461Cys) | |
| 16 | g.56879592C>A | CA395987524 | SLC12A3 | c.1386C>A (p.Phe462Leu) c.1383C>A (p.Phe461Leu) | |
| 16 | g.56879592C= | CA2224353962 | SLC12A3 | c.1386C= (p.Phe462=) c.1383C= (p.Phe461=) | |
| 16 | g.56879592C>G | CA395987527 | SLC12A3 | c.1386C>G (p.Phe462Leu) c.1383C>G (p.Phe461Leu) | |
| 16 | g.56879592C>T | CA8069450 | SLC12A3 | c.1386C>T (p.Phe462=) c.1383C>T (p.Phe461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879593G>A | CA8069451 | SLC12A3 | c.1387G>A (p.Gly463Arg) c.1384G>A (p.Gly462Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879593G>C | CA395987538 | SLC12A3 | c.1387G>C (p.Gly463Arg) c.1384G>C (p.Gly462Arg) | gnomAD v4 |
| 16 | g.56879593G= | CA2224353963 | SLC12A3 | c.1387G= (p.Gly463=) c.1384G= (p.Gly462=) | |
| 16 | g.56879593G>T | CA395987541 | SLC12A3 | c.1387G>T (p.Gly463Trp) c.1384G>T (p.Gly462Trp) | |
| 16 | g.56879596dup | CA2580091681 | SLC12A3 | c.1390dup (p.Ala464GlyfsTer?) c.1387dup (p.Ala463GlyfsTer?) | ClinVar |
| 16 | g.56879596del | CA2695223435 | SLC12A3 | c.1390del (p.Ala464ProfsTer28) c.1387del (p.Ala463ProfsTer28) | |
| 16 | g.56879594G>A | CA395987546 | SLC12A3 | c.1388G>A (p.Gly463Glu) c.1385G>A (p.Gly462Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879594G>C | CA395987548 | SLC12A3 | c.1388G>C (p.Gly463Ala) c.1385G>C (p.Gly462Ala) | |
| 16 | g.56879594G= | CA2224353964 | SLC12A3 | c.1388G= (p.Gly463=) c.1385G= (p.Gly462=) | |
| 16 | g.56879594G>T | CA395987552 | SLC12A3 | c.1388G>T (p.Gly463Val) c.1385G>T (p.Gly462Val) | |
| 16 | g.56879595G>A | CA281501421 | SLC12A3 | c.1389G>A (p.Gly463=) c.1386G>A (p.Gly462=) | dbSNP |
| 16 | g.56879595G>C | CA495603802 | SLC12A3 | c.1389G>C (p.Gly463=) c.1386G>C (p.Gly462=) | |
| 16 | g.56879595G= | CA2224353965 | SLC12A3 | c.1389G= (p.Gly463=) c.1386G= (p.Gly462=) | |
| 16 | g.56879595G>T | CA495603803 | SLC12A3 | c.1389G>T (p.Gly463=) c.1386G>T (p.Gly462=) | |
| 16 | g.56879596G>A | CA8069452 | SLC12A3 | c.1390G>A (p.Ala464Thr) c.1387G>A (p.Ala463Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879596G>C | CA395987562 | SLC12A3 | c.1390G>C (p.Ala464Pro) c.1387G>C (p.Ala463Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879596G= | CA2224353966 | SLC12A3 | c.1390G= (p.Ala464=) c.1387G= (p.Ala463=) | |
| 16 | g.56879596G>T | CA395987559 | SLC12A3 | c.1390G>T (p.Ala464Ser) c.1387G>T (p.Ala463Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879597C>A | CA395987564 | SLC12A3 | c.1391C>A (p.Ala464Asp) c.1388C>A (p.Ala463Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879597C= | CA2224353967 | SLC12A3 | c.1391C= (p.Ala464=) c.1388C= (p.Ala463=) | |
| 16 | g.56879597C>G | CA395987570 | SLC12A3 | c.1391C>G (p.Ala464Gly) c.1388C>G (p.Ala463Gly) | |
| 16 | g.56879597C>T | CA395987567 | SLC12A3 | c.1391C>T (p.Ala464Val) c.1388C>T (p.Ala463Val) | |
| 16 | g.56879598C>A | CA8069453 | SLC12A3 | c.1392C>A (p.Ala464=) c.1389C>A (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879598C= | CA2224353968 | SLC12A3 | c.1392C= (p.Ala464=) c.1389C= (p.Ala463=) | |
| 16 | g.56879598C>G | CA495603804 | SLC12A3 | c.1392C>G (p.Ala464=) c.1389C>G (p.Ala463=) | |
| 16 | g.56879598C>T | CA495603805 | SLC12A3 | c.1392C>T (p.Ala464=) c.1389C>T (p.Ala463=) | |
| 16 | g.56879599A= | CA2224353969 | SLC12A3 | c.1393A= (p.Thr465=) c.1390A= (p.Thr464=) | |
| 16 | g.56879599A>C | CA395987577 | SLC12A3 | c.1393A>C (p.Thr465Pro) c.1390A>C (p.Thr464Pro) | dbSNP |
| 16 | g.56879599A>G | CA395987574 | SLC12A3 | c.1393A>G (p.Thr465Ala) c.1390A>G (p.Thr464Ala) | |
| 16 | g.56879599A>T | CA395987575 | SLC12A3 | c.1393A>T (p.Thr465Ser) c.1390A>T (p.Thr464Ser) | |
| 16 | g.56879600C>A | CA8069454 | SLC12A3 | c.1394C>A (p.Thr465Asn) c.1391C>A (p.Thr464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879600C= | CA2224353970 | SLC12A3 | c.1394C= (p.Thr465=) c.1391C= (p.Thr464=) | |
| 16 | g.56879600C>G | CA395987580 | SLC12A3 | c.1394C>G (p.Thr465Ser) c.1391C>G (p.Thr464Ser) | gnomAD v4 |
| 16 | g.56879600C>T | CA395987583 | SLC12A3 | c.1394C>T (p.Thr465Ile) c.1391C>T (p.Thr464Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879601_56879602del | CA2633381048 | SLC12A3 | c.1395_1396del (p.Ser467LeufsTer?) c.1392_1393del (p.Ser466LeufsTer?) | gnomAD v4 |
| 16 | g.56879601C>A | CA8069456 | SLC12A3 | c.1395C>A (p.Thr465=) c.1392C>A (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879601C= | CA2224353971 | SLC12A3 | c.1395C= (p.Thr465=) c.1392C= (p.Thr464=) | |
| 16 | g.56879601C>G | CA281501434 | SLC12A3 | c.1395C>G (p.Thr465=) c.1392C>G (p.Thr464=) | dbSNP gnomAD v4 |
| 16 | g.56879601C>T | CA8069455 | SLC12A3 | c.1395C>T (p.Thr465=) c.1392C>T (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879602C>A | CA395987589 | SLC12A3 | c.1396C>A (p.Leu466Ile) c.1393C>A (p.Leu465Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879602C= | CA2224353972 | SLC12A3 | c.1396C= (p.Leu466=) c.1393C= (p.Leu465=) | |
| 16 | g.56879602C>G | CA281501440 | SLC12A3 | c.1396C>G (p.Leu466Val) c.1393C>G (p.Leu465Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879602C>T | CA395987593 | SLC12A3 | c.1396C>T (p.Leu466Phe) c.1393C>T (p.Leu465Phe) | gnomAD v4 |