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.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56868266C= | CA2224348321 | SLC12A3 | c.430-31C= (n.430-31C=) c.427-31C= (n.427-31C=) | |
| 16 | g.56868266C>T | CA281493501 | SLC12A3 | c.430-31C>T (n.430-31C>T) c.427-31C>T (n.427-31C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868268G>A | CA2576001719 | SLC12A3 | c.430-29G>A (n.430-29G>A) c.427-29G>A (n.427-29G>A) | gnomAD v4 |
| 16 | g.56868269dup | CA2633371248 | SLC12A3 | c.430-28dup (n.430-28dup) c.427-28dup (n.427-28dup) | gnomAD v4 |
| 16 | g.56868269del | CA2633371249 | SLC12A3 | c.430-28del (n.430-28del) c.427-28del (n.427-28del) | gnomAD v4 |
| 16 | g.56868269G>A | CA622332832 | SLC12A3 | c.430-28G>A (n.430-28G>A) c.427-28G>A (n.427-28G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868269G>C | CA2576001721 | SLC12A3 | c.430-28G>C (n.430-28G>C) c.427-28G>C (n.427-28G>C) | |
| 16 | g.56868269G= | CA2224348322 | SLC12A3 | c.430-28G= (n.430-28G=) c.427-28G= (n.427-28G=) | |
| 16 | g.56868270del | CA2576001722 | SLC12A3 | c.430-27del (n.430-27del) c.427-27del (n.427-27del) | |
| 16 | g.56868270T>G | CA2224348324 | SLC12A3 | c.430-27T>G (n.430-27T>G) c.427-27T>G (n.427-27T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868270T= | CA2224348323 | SLC12A3 | c.430-27T= (n.430-27T=) c.427-27T= (n.427-27T=) | |
| 16 | g.56868271G>A | CA281493504 | SLC12A3 | c.430-26G>A (n.430-26G>A) c.427-26G>A (n.427-26G>A) | dbSNP gnomAD v4 |
| 16 | g.56868271G= | CA2224348325 | SLC12A3 | c.430-26G= (n.430-26G=) c.427-26G= (n.427-26G=) | |
| 16 | g.56868273C>A | CA622332833 | SLC12A3 | c.430-24C>A (n.430-24C>A) c.427-24C>A (n.427-24C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868273C= | CA2224348326 | SLC12A3 | c.430-24C= (n.430-24C=) c.427-24C= (n.427-24C=) | |
| 16 | g.56868273C>G | CA8069022 | SLC12A3 | c.430-24C>G (n.430-24C>G) c.427-24C>G (n.427-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868273C>T | CA8069023 | SLC12A3 | c.430-24C>T (n.430-24C>T) c.427-24C>T (n.427-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868274C= | CA2224348327 | SLC12A3 | c.430-23C= (n.430-23C=) c.427-23C= (n.427-23C=) | |
| 16 | g.56868274C>T | CA622332834 | SLC12A3 | c.430-23C>T (n.430-23C>T) c.427-23C>T (n.427-23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868276C= | CA2224348328 | SLC12A3 | c.430-21C= (n.430-21C=) c.427-21C= (n.427-21C=) | |
| 16 | g.56868276C>T | CA8069024 | SLC12A3 | c.430-21C>T (n.430-21C>T) c.427-21C>T (n.427-21C>T) | dbSNP ExAC gnomAD v2 |
| 16 | g.56868277T>C | CA2633371259 | SLC12A3 | c.430-20T>C (n.430-20T>C) c.427-20T>C (n.427-20T>C) | gnomAD v4 |
| 16 | g.56868277T= | CA2224348329 | SLC12A3 | c.430-20T= (n.430-20T=) c.427-20T= (n.427-20T=) | |
| 16 | g.56868278_56868293dup | CA2224348330 | SLC12A3 | c.430-19_430-4dup (n.430-19_430-4dup) c.427-19_427-4dup (n.427-19_427-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868279A= | CA2224348331 | SLC12A3 | c.430-18A= (n.430-18A=) c.427-18A= (n.427-18A=) | |
| 16 | g.56868279A>G | CA8069026 | SLC12A3 | c.430-18A>G (n.430-18A>G) c.427-18A>G (n.427-18A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868279_56868280delinsAC | CA2224348332 | SLC12A3 | c.430-18_430-17delinsAC (n.430-18_430-17delinsAC) c.427-18_427-17delinsAC (n.427-18_427-17delinsAC) | |
| 16 | g.56868280C>A | CA2633371269 | SLC12A3 | c.430-17C>A (n.430-17C>A) c.427-17C>A (n.427-17C>A) | gnomAD v4 |
| 16 | g.56868280C= | CA2224348333 | SLC12A3 | c.430-17C= (n.430-17C=) c.427-17C= (n.427-17C=) | |
| 16 | g.56868280C>T | CA2224348334 | SLC12A3 | c.430-17C>T (n.430-17C>T) c.427-17C>T (n.427-17C>T) | dbSNP gnomAD v4 |
| 16 | g.56868285dup | CA8069025 | SLC12A3 | c.430-12dup (n.430-12dup) c.427-12dup (n.427-12dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868285del | CA622332835 | SLC12A3 | c.430-12del (n.430-12del) c.427-12del (n.427-12del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868281C>A | CA622332836 | SLC12A3 | c.430-16C>A (n.430-16C>A) c.427-16C>A (n.427-16C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868281C= | CA2224348335 | SLC12A3 | c.430-16C= (n.430-16C=) c.427-16C= (n.427-16C=) | |
| 16 | g.56868281C>G | CA8069027 | SLC12A3 | c.430-16C>G (n.430-16C>G) c.427-16C>G (n.427-16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868281C>T | CA722003597 | SLC12A3 | c.430-16C>T (n.430-16C>T) c.427-16C>T (n.427-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868282C>T | CA2633371276 | SLC12A3 | c.430-15C>T (n.430-15C>T) c.427-15C>T (n.427-15C>T) | gnomAD v4 |
| 16 | g.56868283C>A | CA622332837 | SLC12A3 | c.430-14C>A (n.430-14C>A) c.427-14C>A (n.427-14C>A) | dbSNP gnomAD v2 |
| 16 | g.56868283C= | CA2224348336 | SLC12A3 | c.430-14C= (n.430-14C=) c.427-14C= (n.427-14C=) | |
| 16 | g.56868283C>T | CA2633371279 | SLC12A3 | c.430-14C>T (n.430-14C>T) c.427-14C>T (n.427-14C>T) | gnomAD v4 |
| 16 | g.56868284C>A | CA2807159729 | SLC12A3 | c.430-13C>A (n.430-13C>A) c.427-13C>A (n.427-13C>A) | |
| 16 | g.56868284C= | CA2224348337 | SLC12A3 | c.430-13C= (n.430-13C=) c.427-13C= (n.427-13C=) | |
| 16 | g.56868284C>G | CA2732149825 | SLC12A3 | c.430-13C>G (n.430-13C>G) c.427-13C>G (n.427-13C>G) | dbSNP |
| 16 | g.56868284C>T | CA8069028 | SLC12A3 | c.430-13C>T (n.430-13C>T) c.427-13C>T (n.427-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868285C>A | CA2224348340 | SLC12A3 | c.430-12C>A (n.430-12C>A) c.427-12C>A (n.427-12C>A) | dbSNP |
| 16 | g.56868285C= | CA2224348338 | SLC12A3 | c.430-12C= (n.430-12C=) c.427-12C= (n.427-12C=) | |
| 16 | g.56868285C>G | CA8069031 | SLC12A3 | c.430-12C>G (n.430-12C>G) c.427-12C>G (n.427-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868285C>T | CA8069029 | SLC12A3 | c.430-12C>T (n.430-12C>T) c.427-12C>T (n.427-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868285_56868286delinsCT | CA2224348339 | SLC12A3 | c.430-12_430-11delinsCT (n.430-12_430-11delinsCT) c.427-12_427-11delinsCT (n.427-12_427-11delinsCT) | |
| 16 | g.56868286del | CA8069030 | SLC12A3 | c.430-11del (n.430-11del) c.427-11del (n.427-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868286T>C | CA622332845 | SLC12A3 | c.430-11T>C (n.430-11T>C) c.427-11T>C (n.427-11T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868286T>G | CA2633371294 | SLC12A3 | c.430-11T>G (n.430-11T>G) c.427-11T>G (n.427-11T>G) | gnomAD v4 |
| 16 | g.56868286T= | CA2224348341 | SLC12A3 | c.430-11T= (n.430-11T=) c.427-11T= (n.427-11T=) | |
| 16 | g.56868287G>C | CA622332846 | SLC12A3 | c.430-10G>C (n.430-10G>C) c.427-10G>C (n.427-10G>C) | dbSNP gnomAD v2 |
| 16 | g.56868287G= | CA2224348342 | SLC12A3 | c.430-10G= (n.430-10G=) c.427-10G= (n.427-10G=) | |
| 16 | g.56868288T>C | CA2633371296 | SLC12A3 | c.430-9T>C (n.430-9T>C) c.427-9T>C (n.427-9T>C) | gnomAD v4 |
| 16 | g.56868289C>A | CA8069032 | SLC12A3 | c.430-8C>A (n.430-8C>A) c.427-8C>A (n.427-8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868289C= | CA2224348343 | SLC12A3 | c.430-8C= (n.430-8C=) c.427-8C= (n.427-8C=) | |
| 16 | g.56868289C>T | CA622332847 | SLC12A3 | c.430-8C>T (n.430-8C>T) c.427-8C>T (n.427-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868290C= | CA2224348344 | SLC12A3 | c.430-7C= (n.430-7C=) c.427-7C= (n.427-7C=) | |
| 16 | g.56868290C>T | CA622332848 | SLC12A3 | c.430-7C>T (n.430-7C>T) c.427-7C>T (n.427-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868291T>C | CA8069033 | SLC12A3 | c.430-6T>C (n.430-6T>C) c.427-6T>C (n.427-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868291T= | CA2224348345 | SLC12A3 | c.430-6T= (n.430-6T=) c.427-6T= (n.427-6T=) | |
| 16 | g.56868294del | CA2739266776 | SLC12A3 | c.430-3del (n.430-3del) c.427-3del (n.427-3del) | ClinVar |
| 16 | g.56868294C>A | CA1139664708 | SLC12A3 | c.430-3C>A (n.430-3C>A) c.427-3C>A (n.427-3C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56868294C= | CA2224348346 | SLC12A3 | c.430-3C= (n.430-3C=) c.427-3C= (n.427-3C=) | |
| 16 | g.56868295_56868300dup | CA2695223662 | SLC12A3 | c.430-2_433dup c.427-2_430dup | |
| 16 | g.56868295A>C | CA395979341 | SLC12A3 | c.430-2A>C (n.430-2A>C) c.427-2A>C (n.427-2A>C) | |
| 16 | g.56868295A>G | CA395979344 | SLC12A3 | c.430-2A>G (n.430-2A>G) c.427-2A>G (n.427-2A>G) | |
| 16 | g.56868295A>T | CA395979346 | SLC12A3 | c.430-2A>T (n.430-2A>T) c.427-2A>T (n.427-2A>T) | |
| 16 | g.56868296G>A | CA395979348 | SLC12A3 | c.430-1G>A (n.430-1G>A) c.427-1G>A (n.427-1G>A) | gnomAD v4 |
| 16 | g.56868296G>C | CA395979350 | SLC12A3 | c.430-1G>C (n.430-1G>C) c.427-1G>C (n.427-1G>C) | |
| 16 | g.56868296G>T | CA395979352 | SLC12A3 | c.430-1G>T (n.430-1G>T) c.427-1G>T (n.427-1G>T) | |
| 16 | g.56868297A>C | CA395979357 | SLC12A3 | c.430A>C (p.Ile144Leu) c.427A>C (p.Ile143Leu) | |
| 16 | g.56868297A>G | CA395979355 | SLC12A3 | c.430A>G (p.Ile144Val) c.427A>G (p.Ile143Val) | |
| 16 | g.56868297A>T | CA395979354 | SLC12A3 | c.430A>T (p.Ile144Phe) c.427A>T (p.Ile143Phe) | |
| 16 | g.56868298T>A | CA395979360 | SLC12A3 | c.431T>A (p.Ile144Asn) c.428T>A (p.Ile143Asn) | |
| 16 | g.56868298T>C | CA395979361 | SLC12A3 | c.431T>C (p.Ile144Thr) c.428T>C (p.Ile143Thr) | dbSNP |
| 16 | g.56868298T>G | CA395979363 | SLC12A3 | c.431T>G (p.Ile144Ser) c.428T>G (p.Ile143Ser) | |
| 16 | g.56868298T= | CA2224348347 | SLC12A3 | c.431T= (p.Ile144=) c.428T= (p.Ile143=) | |
| 16 | g.56868299T>A | CA495602777 | SLC12A3 | c.432T>A (p.Ile144=) c.429T>A (p.Ile143=) | |
| 16 | g.56868299T>C | CA495602778 | SLC12A3 | c.432T>C (p.Ile144=) c.429T>C (p.Ile143=) | |
| 16 | g.56868299T>G | CA395979365 | SLC12A3 | c.432T>G (p.Ile144Met) c.429T>G (p.Ile143Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868299T= | CA2224348348 | SLC12A3 | c.432T= (p.Ile144=) c.429T= (p.Ile143=) | |
| 16 | g.56868300C>A | CA395979367 | SLC12A3 | c.433C>A (p.Arg145Ser) c.430C>A (p.Arg144Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868300C= | CA2224348349 | SLC12A3 | c.433C= (p.Arg145=) c.430C= (p.Arg144=) | |
| 16 | g.56868300C>G | CA395979369 | SLC12A3 | c.433C>G (p.Arg145Gly) c.430C>G (p.Arg144Gly) | |
| 16 | g.56868300C>T | CA8069034 | SLC12A3 | c.433C>T (p.Arg145Cys) c.430C>T (p.Arg144Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56868301G>A | CA8069035 | SLC12A3 | c.434G>A (p.Arg145His) c.431G>A (p.Arg144His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868301G>C | CA395979373 | SLC12A3 | c.434G>C (p.Arg145Pro) c.431G>C (p.Arg144Pro) | gnomAD v4 |
| 16 | g.56868301G= | CA2224348350 | SLC12A3 | c.434G= (p.Arg145=) c.431G= (p.Arg144=) | |
| 16 | g.56868301G>T | CA395979375 | SLC12A3 | c.434G>T (p.Arg145Leu) c.431G>T (p.Arg144Leu) | |
| 16 | g.56868302T>A | CA495602779 | SLC12A3 | c.435T>A (p.Arg145=) c.432T>A (p.Arg144=) | |
| 16 | g.56868302T>C | CA495602780 | SLC12A3 | c.435T>C (p.Arg145=) c.432T>C (p.Arg144=) | |
| 16 | g.56868302T>G | CA495602781 | SLC12A3 | c.435T>G (p.Arg145=) c.432T>G (p.Arg144=) | |
| 16 | g.56868303del | CA2580091672 | SLC12A3 | c.436del (p.Cys146AlafsTer8) c.433del (p.Cys145AlafsTer8) | ClinVar |
| 16 | g.56868303T>A | CA395979377 | SLC12A3 | c.436T>A (p.Cys146Ser) c.433T>A (p.Cys145Ser) | |
| 16 | g.56868303T>C | CA395979382 | SLC12A3 | c.436T>C (p.Cys146Arg) c.433T>C (p.Cys145Arg) | |
| 16 | g.56868303T>G | CA395979384 | SLC12A3 | c.436T>G (p.Cys146Gly) c.433T>G (p.Cys145Gly) | |
| 16 | g.56868304G>A | CA395979392 | SLC12A3 | c.437G>A (p.Cys146Tyr) c.434G>A (p.Cys145Tyr) | |
| 16 | g.56868304G>C | CA395979389 | SLC12A3 | c.437G>C (p.Cys146Ser) c.434G>C (p.Cys145Ser) | |
| 16 | g.56868304G>T | CA395979388 | SLC12A3 | c.437G>T (p.Cys146Phe) c.434G>T (p.Cys145Phe) | |
| 16 | g.56868305C>A | CA8069036 | SLC12A3 | c.438C>A (p.Cys146Ter) c.435C>A (p.Cys145Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868305C= | CA2224348351 | SLC12A3 | c.438C= (p.Cys146=) c.435C= (p.Cys145=) | |
| 16 | g.56868305C>G | CA395979395 | SLC12A3 | c.438C>G (p.Cys146Trp) c.435C>G (p.Cys145Trp) | |
| 16 | g.56868305C>T | CA495602782 | SLC12A3 | c.438C>T (p.Cys146=) c.435C>T (p.Cys145=) | gnomAD v4 |
| 16 | g.56868306A= | CA2224348352 | SLC12A3 | c.439A= (p.Met147=) c.436A= (p.Met146=) | |
| 16 | g.56868306A>C | CA395979398 | SLC12A3 | c.439A>C (p.Met147Leu) c.436A>C (p.Met146Leu) | |
| 16 | g.56868306A>G | CA395979399 | SLC12A3 | c.439A>G (p.Met147Val) c.436A>G (p.Met146Val) | dbSNP |
| 16 | g.56868306A>T | CA395979402 | SLC12A3 | c.439A>T (p.Met147Leu) c.436A>T (p.Met146Leu) | |
| 16 | g.56868307T>A | CA395979404 | SLC12A3 | c.440T>A (p.Met147Lys) c.437T>A (p.Met146Lys) | |
| 16 | g.56868307T>C | CA8069037 | SLC12A3 | c.440T>C (p.Met147Thr) c.437T>C (p.Met146Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868307T>G | CA395979407 | SLC12A3 | c.440T>G (p.Met147Arg) c.437T>G (p.Met146Arg) | |
| 16 | g.56868307T= | CA2224348353 | SLC12A3 | c.440T= (p.Met147=) c.437T= (p.Met146=) | |
| 16 | g.56868308G>A | CA8069038 | SLC12A3 | c.441G>A (p.Met147Ile) c.438G>A (p.Met146Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868308G>C | CA395979411 | SLC12A3 | c.441G>C (p.Met147Ile) c.438G>C (p.Met146Ile) | |
| 16 | g.56868308G= | CA2224348354 | SLC12A3 | c.441G= (p.Met147=) c.438G= (p.Met146=) | |
| 16 | g.56868308G>T | CA395979413 | SLC12A3 | c.441G>T (p.Met147Ile) c.438G>T (p.Met146Ile) | |
| 16 | g.56868309C>A | CA395979415 | SLC12A3 | c.442C>A (p.Leu148Ile) c.439C>A (p.Leu147Ile) | |
| 16 | g.56868309C= | CA2224348355 | SLC12A3 | c.442C= (p.Leu148=) c.439C= (p.Leu147=) | |
| 16 | g.56868309C>G | CA8069039 | SLC12A3 | c.442C>G (p.Leu148Val) c.439C>G (p.Leu147Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868309C>T | CA395979417 | SLC12A3 | c.442C>T (p.Leu148Phe) c.439C>T (p.Leu147Phe) | |
| 16 | g.56868310T>A | CA395979423 | SLC12A3 | c.443T>A (p.Leu148His) c.440T>A (p.Leu147His) | |
| 16 | g.56868310T>C | CA395979422 | SLC12A3 | c.443T>C (p.Leu148Pro) c.440T>C (p.Leu147Pro) | gnomAD v4 |
| 16 | g.56868310T>G | CA395979420 | SLC12A3 | c.443T>G (p.Leu148Arg) c.440T>G (p.Leu147Arg) | |
| 16 | g.56868311C>A | CA495602784 | SLC12A3 | c.444C>A (p.Leu148=) c.441C>A (p.Leu147=) | |
| 16 | g.56868311C>G | CA495602785 | SLC12A3 | c.444C>G (p.Leu148=) c.441C>G (p.Leu147=) | ClinVar |
| 16 | g.56868311C>T | CA495602786 | SLC12A3 | c.444C>T (p.Leu148=) c.441C>T (p.Leu147=) | ClinVar |
| 16 | g.56868312A= | CA2224348356 | SLC12A3 | c.445A= (p.Asn149=) c.442A= (p.Asn148=) | |
| 16 | g.56868312A>C | CA395979425 | SLC12A3 | c.445A>C (p.Asn149His) c.442A>C (p.Asn148His) | |
| 16 | g.56868312A>G | CA395979429 | SLC12A3 | c.445A>G (p.Asn149Asp) c.442A>G (p.Asn148Asp) | dbSNP gnomAD v2 |
| 16 | g.56868312A>T | CA395979427 | SLC12A3 | c.445A>T (p.Asn149Tyr) c.442A>T (p.Asn148Tyr) | |
| 16 | g.56868313A>C | CA395979431 | SLC12A3 | c.446A>C (p.Asn149Thr) c.443A>C (p.Asn148Thr) | |
| 16 | g.56868313A>G | CA395979433 | SLC12A3 | c.446A>G (p.Asn149Ser) c.443A>G (p.Asn148Ser) | |
| 16 | g.56868313A>T | CA395979436 | SLC12A3 | c.446A>T (p.Asn149Ile) c.443A>T (p.Asn148Ile) | |
| 16 | g.56868314C>A | CA395979437 | SLC12A3 | c.447C>A (p.Asn149Lys) c.444C>A (p.Asn148Lys) | |
| 16 | g.56868314C= | CA2224348357 | SLC12A3 | c.447C= (p.Asn149=) c.444C= (p.Asn148=) | |
| 16 | g.56868314C>G | CA395979439 | SLC12A3 | c.447C>G (p.Asn149Lys) c.444C>G (p.Asn148Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868314C>T | CA8069040 | SLC12A3 | c.447C>T (p.Asn149=) c.444C>T (p.Asn148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56868315A>C | CA395979442 | SLC12A3 | c.448A>C (p.Ile150Leu) c.445A>C (p.Ile149Leu) | |
| 16 | g.56868315A>G | CA395979445 | SLC12A3 | c.448A>G (p.Ile150Val) c.445A>G (p.Ile149Val) | |
| 16 | g.56868315A>T | CA395979447 | SLC12A3 | c.448A>T (p.Ile150Phe) c.445A>T (p.Ile149Phe) | |
| 16 | g.56868316T>A | CA395979450 | SLC12A3 | c.449T>A (p.Ile150Asn) c.446T>A (p.Ile149Asn) | |
| 16 | g.56868316T>C | CA395979451 | SLC12A3 | c.449T>C (p.Ile150Thr) c.446T>C (p.Ile149Thr) | |
| 16 | g.56868316T>G | CA395979453 | SLC12A3 | c.449T>G (p.Ile150Ser) c.446T>G (p.Ile149Ser) | |
| 16 | g.56868317T>A | CA8069041 | SLC12A3 | c.450T>A (p.Ile150=) c.447T>A (p.Ile149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868317T>C | CA495602788 | SLC12A3 | c.450T>C (p.Ile150=) c.447T>C (p.Ile149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868317T>G | CA8069042 | SLC12A3 | c.450T>G (p.Ile150Met) c.447T>G (p.Ile149Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868317T= | CA2224348358 | SLC12A3 | c.450T= (p.Ile150=) c.447T= (p.Ile149=) | |
| 16 | g.56868318T>A | CA395979459 | SLC12A3 | c.451T>A (p.Trp151Arg) c.448T>A (p.Trp150Arg) | |
| 16 | g.56868318T>C | CA395979461 | SLC12A3 | c.451T>C (p.Trp151Arg) c.448T>C (p.Trp150Arg) | |
| 16 | g.56868318T>G | CA395979463 | SLC12A3 | c.451T>G (p.Trp151Gly) c.448T>G (p.Trp150Gly) | |
| 16 | g.56868319G>A | CA395979465 | SLC12A3 | c.452G>A (p.Trp151Ter) c.449G>A (p.Trp150Ter) | ClinVar |
| 16 | g.56868319G>C | CA395979467 | SLC12A3 | c.452G>C (p.Trp151Ser) c.449G>C (p.Trp150Ser) | |
| 16 | g.56868319G>T | CA395979469 | SLC12A3 | c.452G>T (p.Trp151Leu) c.449G>T (p.Trp150Leu) | |
| 16 | g.56868322dup | CA2633371358 | SLC12A3 | c.455dup (p.Val153ArgfsTer?) c.452dup (p.Val152ArgfsTer?) | gnomAD v4 |
| 16 | g.56868320G>A | CA395979471 | SLC12A3 | c.453G>A (p.Trp151Ter) c.450G>A (p.Trp150Ter) | |
| 16 | g.56868320G>C | CA395979472 | SLC12A3 | c.453G>C (p.Trp151Cys) c.450G>C (p.Trp150Cys) | |
| 16 | g.56868320G>T | CA395979473 | SLC12A3 | c.453G>T (p.Trp151Cys) c.450G>T (p.Trp150Cys) | |
| 16 | g.56868321G>A | CA395979476 | SLC12A3 | c.454G>A (p.Gly152Ser) c.451G>A (p.Gly151Ser) | dbSNP gnomAD v2 |
| 16 | g.56868321G>C | CA395979478 | SLC12A3 | c.454G>C (p.Gly152Arg) c.451G>C (p.Gly151Arg) | |
| 16 | g.56868321G= | CA2224348359 | SLC12A3 | c.454G= (p.Gly152=) c.451G= (p.Gly151=) | |
| 16 | g.56868321G>T | CA395979479 | SLC12A3 | c.454G>T (p.Gly152Cys) c.451G>T (p.Gly151Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868322G>A | CA395979482 | SLC12A3 | c.455G>A (p.Gly152Asp) c.452G>A (p.Gly151Asp) | |
| 16 | g.56868322G>C | CA395979486 | SLC12A3 | c.455G>C (p.Gly152Ala) c.452G>C (p.Gly151Ala) | |
| 16 | g.56868322G>T | CA395979484 | SLC12A3 | c.455G>T (p.Gly152Val) c.452G>T (p.Gly151Val) | |
| 16 | g.56868323C>A | CA495602789 | SLC12A3 | c.456C>A (p.Gly152=) c.453C>A (p.Gly151=) | gnomAD v4 |
| 16 | g.56868323C= | CA2224348360 | SLC12A3 | c.456C= (p.Gly152=) c.453C= (p.Gly151=) | |
| 16 | g.56868323C>G | CA495602790 | SLC12A3 | c.456C>G (p.Gly152=) c.453C>G (p.Gly151=) | gnomAD v4 |
| 16 | g.56868323C>T | CA8069043 | SLC12A3 | c.456C>T (p.Gly152=) c.453C>T (p.Gly151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868324G>A | CA8069044 | SLC12A3 | c.457G>A (p.Val153Met) c.454G>A (p.Val152Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868324G>C | CA395979490 | SLC12A3 | c.457G>C (p.Val153Leu) c.454G>C (p.Val152Leu) | |
| 16 | g.56868324G= | CA2224348361 | SLC12A3 | c.457G= (p.Val153=) c.454G= (p.Val152=) | |
| 16 | g.56868324G>T | CA395979491 | SLC12A3 | c.457G>T (p.Val153Leu) c.454G>T (p.Val152Leu) | dbSNP gnomAD v4 |
| 16 | g.56868325T>A | CA395979495 | SLC12A3 | c.458T>A (p.Val153Glu) c.455T>A (p.Val152Glu) | |
| 16 | g.56868325T>C | CA395979497 | SLC12A3 | c.458T>C (p.Val153Ala) c.455T>C (p.Val152Ala) | dbSNP gnomAD v4 |
| 16 | g.56868325T>G | CA395979499 | SLC12A3 | c.458T>G (p.Val153Gly) c.455T>G (p.Val152Gly) | |
| 16 | g.56868325T= | CA2224348362 | SLC12A3 | c.458T= (p.Val153=) c.455T= (p.Val152=) | |
| 16 | g.56868326G>A | CA495602793 | SLC12A3 | c.459G>A (p.Val153=) c.456G>A (p.Val152=) | ClinVar dbSNP |
| 16 | g.56868326G>C | CA495602792 | SLC12A3 | c.459G>C (p.Val153=) c.456G>C (p.Val152=) | |
| 16 | g.56868326G= | CA2224348363 | SLC12A3 | c.459G= (p.Val153=) c.456G= (p.Val152=) | |
| 16 | g.56868326G>T | CA495602791 | SLC12A3 | c.459G>T (p.Val153=) c.456G>T (p.Val152=) | |
| 16 | g.56868327A= | CA2224348364 | SLC12A3 | c.460A= (p.Ile154=) c.457A= (p.Ile153=) | |
| 16 | g.56868327A>C | CA395979502 | SLC12A3 | c.460A>C (p.Ile154Leu) c.457A>C (p.Ile153Leu) | |
| 16 | g.56868327A>G | CA395979503 | SLC12A3 | c.460A>G (p.Ile154Val) c.457A>G (p.Ile153Val) | |
| 16 | g.56868327A>T | CA8069045 | SLC12A3 | c.460A>T (p.Ile154Phe) c.457A>T (p.Ile153Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868328T>A | CA395979506 | SLC12A3 | c.461T>A (p.Ile154Asn) c.458T>A (p.Ile153Asn) | dbSNP |
| 16 | g.56868328T>C | CA8069046 | SLC12A3 | c.461T>C (p.Ile154Thr) c.458T>C (p.Ile153Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868328T>G | CA395979508 | SLC12A3 | c.461T>G (p.Ile154Ser) c.458T>G (p.Ile153Ser) | |
| 16 | g.56868328T= | CA2224348365 | SLC12A3 | c.461T= (p.Ile154=) c.458T= (p.Ile153=) | |
| 16 | g.56868329C>A | CA8069047 | SLC12A3 | c.462C>A (p.Ile154=) c.459C>A (p.Ile153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868329C= | CA2224348366 | SLC12A3 | c.462C= (p.Ile154=) c.459C= (p.Ile153=) | |
| 16 | g.56868329C>G | CA395979512 | SLC12A3 | c.462C>G (p.Ile154Met) c.459C>G (p.Ile153Met) | |
| 16 | g.56868329C>T | CA495602794 | SLC12A3 | c.462C>T (p.Ile154=) c.459C>T (p.Ile153=) | gnomAD v4 |
| 16 | g.56868330C>A | CA395979514 | SLC12A3 | c.463C>A (p.Leu155Ile) c.460C>A (p.Leu154Ile) | |
| 16 | g.56868330C= | CA2224348367 | SLC12A3 | c.463C= (p.Leu155=) c.460C= (p.Leu154=) | |
| 16 | g.56868330C>G | CA395979516 | SLC12A3 | c.463C>G (p.Leu155Val) c.460C>G (p.Leu154Val) | |
| 16 | g.56868330C>T | CA8069048 | SLC12A3 | c.463C>T (p.Leu155Phe) c.460C>T (p.Leu154Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868330_56868333dup | CA2633371399 | SLC12A3 | c.463_466dup (p.Tyr156SerfsTer?) c.460_463dup (p.Tyr155SerfsTer?) | gnomAD v4 |
| 16 | g.56868331T>A | CA395979518 | SLC12A3 | c.464T>A (p.Leu155His) c.461T>A (p.Leu154His) | |
| 16 | g.56868331T>C | CA395979520 | SLC12A3 | c.464T>C (p.Leu155Pro) c.461T>C (p.Leu154Pro) | |
| 16 | g.56868331T>G | CA395979521 | SLC12A3 | c.464T>G (p.Leu155Arg) c.461T>G (p.Leu154Arg) | |
| 16 | g.56868332C>A | CA495602795 | SLC12A3 | c.465C>A (p.Leu155=) c.462C>A (p.Leu154=) | gnomAD v4 |
| 16 | g.56868332C>G | CA495602797 | SLC12A3 | c.465C>G (p.Leu155=) c.462C>G (p.Leu154=) | |
| 16 | g.56868332C>T | CA495602796 | SLC12A3 | c.465C>T (p.Leu155=) c.462C>T (p.Leu154=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56868333T>A | CA395979523 | SLC12A3 | c.466T>A (p.Tyr156Asn) c.463T>A (p.Tyr155Asn) | |
| 16 | g.56868333T>C | CA395979524 | SLC12A3 | c.466T>C (p.Tyr156His) c.463T>C (p.Tyr155His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868333T>G | CA395979525 | SLC12A3 | c.466T>G (p.Tyr156Asp) c.463T>G (p.Tyr155Asp) | |
| 16 | g.56868333T= | CA2224348368 | SLC12A3 | c.466T= (p.Tyr156=) c.463T= (p.Tyr155=) | |
| 16 | g.56868333dup | CA2580091674 | SLC12A3 | c.466dup (p.Tyr156LeufsTer?) c.463dup (p.Tyr155LeufsTer?) | ClinVar |
| 16 | g.56868334A= | CA2224348369 | SLC12A3 | c.467A= (p.Tyr156=) c.464A= (p.Tyr155=) | |
| 16 | g.56868334A>C | CA395979527 | SLC12A3 | c.467A>C (p.Tyr156Ser) c.464A>C (p.Tyr155Ser) | |
| 16 | g.56868334A>G | CA395979529 | SLC12A3 | c.467A>G (p.Tyr156Cys) c.464A>G (p.Tyr155Cys) | |
| 16 | g.56868334A>T | CA395979532 | SLC12A3 | c.467A>T (p.Tyr156Phe) c.464A>T (p.Tyr155Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868335C>A | CA395979534 | SLC12A3 | c.468C>A (p.Tyr156Ter) c.465C>A (p.Tyr155Ter) | |
| 16 | g.56868335C>G | CA395979536 | SLC12A3 | c.468C>G (p.Tyr156Ter) c.465C>G (p.Tyr155Ter) | |
| 16 | g.56868335C>T | CA495602798 | SLC12A3 | c.468C>T (p.Tyr156=) c.465C>T (p.Tyr155=) | gnomAD v4 |
| 16 | g.56868336C>A | CA8069049 | SLC12A3 | c.469C>A (p.Leu157Met) c.466C>A (p.Leu156Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868336C= | CA2224348370 | SLC12A3 | c.469C= (p.Leu157=) c.466C= (p.Leu156=) | |
| 16 | g.56868336C>G | CA395979538 | SLC12A3 | c.469C>G (p.Leu157Val) c.466C>G (p.Leu156Val) | |
| 16 | g.56868336C>T | CA495602799 | SLC12A3 | c.469C>T (p.Leu157=) c.466C>T (p.Leu156=) | gnomAD v4 |
| 16 | g.56868337T>A | CA395979542 | SLC12A3 | c.470T>A (p.Leu157Gln) c.467T>A (p.Leu156Gln) | |
| 16 | g.56868337T>C | CA8069050 | SLC12A3 | c.470T>C (p.Leu157Pro) c.467T>C (p.Leu156Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868337T>G | CA395979544 | SLC12A3 | c.470T>G (p.Leu157Arg) c.467T>G (p.Leu156Arg) | |
| 16 | g.56868337T= | CA2224348371 | SLC12A3 | c.470T= (p.Leu157=) c.467T= (p.Leu156=) | |
| 16 | g.56868338G>A | CA495602800 | SLC12A3 | c.471G>A (p.Leu157=) c.468G>A (p.Leu156=) | |
| 16 | g.56868338G>C | CA495602801 | SLC12A3 | c.471G>C (p.Leu157=) c.468G>C (p.Leu156=) | |
| 16 | g.56868338G>T | CA495602802 | SLC12A3 | c.471G>T (p.Leu157=) c.468G>T (p.Leu156=) | |
| 16 | g.56868339C>A | CA281493573 | SLC12A3 | c.472C>A (p.Arg158=) c.469C>A (p.Arg157=) | dbSNP gnomAD v4 |
| 16 | g.56868339C= | CA2224348372 | SLC12A3 | c.472C= (p.Arg158=) c.469C= (p.Arg157=) | |
| 16 | g.56868339C>G | CA395979546 | SLC12A3 | c.472C>G (p.Arg158Gly) c.469C>G (p.Arg157Gly) | |
| 16 | g.56868339C>T | CA395979548 | SLC12A3 | c.472C>T (p.Arg158Trp) c.469C>T (p.Arg157Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868340G>A | CA395979550 | SLC12A3 | c.473G>A (p.Arg158Gln) c.470G>A (p.Arg157Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868340G>C | CA395979551 | SLC12A3 | c.473G>C (p.Arg158Pro) c.470G>C (p.Arg157Pro) | |
| 16 | g.56868340G= | CA2224348373 | SLC12A3 | c.473G= (p.Arg158=) c.470G= (p.Arg157=) | |
| 16 | g.56868340G>T | CA395979552 | SLC12A3 | c.473G>T (p.Arg158Leu) c.470G>T (p.Arg157Leu) | |
| 16 | g.56868341G>A | CA8069052 | SLC12A3 | c.474G>A (p.Arg158=) c.471G>A (p.Arg157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868341G>C | CA8069051 | SLC12A3 | c.474G>C (p.Arg158=) c.471G>C (p.Arg157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868341G= | CA2224348374 | SLC12A3 | c.474G= (p.Arg158=) c.471G= (p.Arg157=) | |
| 16 | g.56868341G>T | CA495602803 | SLC12A3 | c.474G>T (p.Arg158=) c.471G>T (p.Arg157=) | ClinVar dbSNP |
| 16 | g.56868342C>A | CA395979553 | SLC12A3 | c.475C>A (p.Leu159Met) c.472C>A (p.Leu158Met) | |
| 16 | g.56868342C= | CA2224348375 | SLC12A3 | c.475C= (p.Leu159=) c.472C= (p.Leu158=) | |
| 16 | g.56868342C>G | CA395979555 | SLC12A3 | c.475C>G (p.Leu159Val) c.472C>G (p.Leu158Val) | |
| 16 | g.56868342C>T | CA8069053 | SLC12A3 | c.475C>T (p.Leu159=) c.472C>T (p.Leu158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868343T>A | CA395979562 | SLC12A3 | c.476T>A (p.Leu159Gln) c.473T>A (p.Leu158Gln) | |
| 16 | g.56868343T>C | CA395979558 | SLC12A3 | c.476T>C (p.Leu159Pro) c.473T>C (p.Leu158Pro) | |
| 16 | g.56868343T>G | CA395979560 | SLC12A3 | c.476T>G (p.Leu159Arg) c.473T>G (p.Leu158Arg) | |
| 16 | g.56868344G>A | CA495602804 | SLC12A3 | c.477G>A (p.Leu159=) c.474G>A (p.Leu158=) | |
| 16 | g.56868344G>C | CA495602805 | SLC12A3 | c.477G>C (p.Leu159=) c.474G>C (p.Leu158=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56868344G>T | CA495602806 | SLC12A3 | c.477G>T (p.Leu159=) c.474G>T (p.Leu158=) | dbSNP |
| 16 | g.56868345C>A | CA395979564 | SLC12A3 | c.478C>A (p.Pro160Thr) c.475C>A (p.Pro159Thr) | |
| 16 | g.56868345C= | CA2224348376 | SLC12A3 | c.478C= (p.Pro160=) c.475C= (p.Pro159=) | |
| 16 | g.56868345C>G | CA8069054 | SLC12A3 | c.478C>G (p.Pro160Ala) c.475C>G (p.Pro159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868345C>T | CA395979566 | SLC12A3 | c.478C>T (p.Pro160Ser) c.475C>T (p.Pro159Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56868347dup | CA2695223663 | SLC12A3 | c.480dup (p.Trp161LeufsTer?) c.477dup (p.Trp160LeufsTer?) | |
| 16 | g.56868346C>A | CA395979569 | SLC12A3 | c.479C>A (p.Pro160His) c.476C>A (p.Pro159His) | |
| 16 | g.56868346C>G | CA395979570 | SLC12A3 | c.479C>G (p.Pro160Arg) c.476C>G (p.Pro159Arg) | |
| 16 | g.56868346C>T | CA395979572 | SLC12A3 | c.479C>T (p.Pro160Leu) c.476C>T (p.Pro159Leu) | |
| 16 | g.56868347C>A | CA495602807 | SLC12A3 | c.480C>A (p.Pro160=) c.477C>A (p.Pro159=) | |
| 16 | g.56868347C= | CA2224348377 | SLC12A3 | c.480C= (p.Pro160=) c.477C= (p.Pro159=) | |
| 16 | g.56868347C>G | CA495602808 | SLC12A3 | c.480C>G (p.Pro160=) c.477C>G (p.Pro159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868347C>T | CA495602809 | SLC12A3 | c.480C>T (p.Pro160=) c.477C>T (p.Pro159=) | ClinVar gnomAD v4 |
| 16 | g.56868348T>A | CA395979575 | SLC12A3 | c.481T>A (p.Trp161Arg) c.478T>A (p.Trp160Arg) | |
| 16 | g.56868348T>C | CA395979576 | SLC12A3 | c.481T>C (p.Trp161Arg) c.478T>C (p.Trp160Arg) | |
| 16 | g.56868348T>G | CA395979578 | SLC12A3 | c.481T>G (p.Trp161Gly) c.478T>G (p.Trp160Gly) | |
| 16 | g.56868349G>A | CA8069055 | SLC12A3 | c.482G>A (p.Trp161Ter) c.479G>A (p.Trp160Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56868349G>C | CA395979582 | SLC12A3 | c.482G>C (p.Trp161Ser) c.479G>C (p.Trp160Ser) | |
| 16 | g.56868349G= | CA2224348378 | SLC12A3 | c.482G= (p.Trp161=) c.479G= (p.Trp160=) | |
| 16 | g.56868349G>T | CA395979584 | SLC12A3 | c.482G>T (p.Trp161Leu) c.479G>T (p.Trp160Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56868350G>A | CA395979590 | SLC12A3 | c.483G>A (p.Trp161Ter) c.480G>A (p.Trp160Ter) | gnomAD v4 |
| 16 | g.56868350G>C | CA395979589 | SLC12A3 | c.483G>C (p.Trp161Cys) c.480G>C (p.Trp160Cys) | |
| 16 | g.56868350G>T | CA395979587 | SLC12A3 | c.483G>T (p.Trp161Cys) c.480G>T (p.Trp160Cys) | |
| 16 | g.56868351A>C | CA395979593 | SLC12A3 | c.484A>C (p.Ile162Leu) c.481A>C (p.Ile161Leu) | |
| 16 | g.56868351A>G | CA395979597 | SLC12A3 | c.484A>G (p.Ile162Val) c.481A>G (p.Ile161Val) | gnomAD v4 |
| 16 | g.56868351A>T | CA395979595 | SLC12A3 | c.484A>T (p.Ile162Phe) c.481A>T (p.Ile161Phe) | gnomAD v4 |
| 16 | g.56868352T>A | CA395979599 | SLC12A3 | c.485T>A (p.Ile162Asn) c.482T>A (p.Ile161Asn) | |
| 16 | g.56868352T>C | CA395979603 | SLC12A3 | c.485T>C (p.Ile162Thr) c.482T>C (p.Ile161Thr) | |
| 16 | g.56868352T>G | CA395979601 | SLC12A3 | c.485T>G (p.Ile162Ser) c.482T>G (p.Ile161Ser) | |
| 16 | g.56868353del | CA2695223664 | SLC12A3 | c.486del (p.Thr163ArgfsTer8) c.483del (p.Thr162ArgfsTer8) | |
| 16 | g.56868353T>A | CA8069056 | SLC12A3 | c.486T>A (p.Ile162=) c.483T>A (p.Ile161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56868353T>C | CA495602810 | SLC12A3 | c.486T>C (p.Ile162=) c.483T>C (p.Ile161=) | |
| 16 | g.56868353T>G | CA395979606 | SLC12A3 | c.486T>G (p.Ile162Met) c.483T>G (p.Ile161Met) | |
| 16 | g.56868353T= | CA2224348379 | SLC12A3 | c.486T= (p.Ile162=) c.483T= (p.Ile161=) | |
| 16 | g.56868353_56868356del | CA2580091676 | SLC12A3 | c.486_489del (p.Ile162MetfsTer8) c.483_486del (p.Ile161MetfsTer8) | ClinVar |
| 16 | g.56868353_56868357delinsA | CA2580091677 | SLC12A3 | c.486_490delinsA (p.Thr163ProfsTer7) c.483_487delinsA (p.Thr162ProfsTer7) | ClinVar |
| 16 | g.56868354A>C | CA395979608 | SLC12A3 | c.487A>C (p.Thr163Pro) c.484A>C (p.Thr162Pro) | |
| 16 | g.56868354A>G | CA395979611 | SLC12A3 | c.487A>G (p.Thr163Ala) c.484A>G (p.Thr162Ala) | gnomAD v4 |
| 16 | g.56868354A>T | CA395979609 | SLC12A3 | c.487A>T (p.Thr163Ser) c.484A>T (p.Thr162Ser) | |
| 16 | g.56868354_56868357del | CA2695223665 | SLC12A3 | c.487_490del (p.Thr163ProfsTer7) c.484_487del (p.Thr162ProfsTer7) | |
| 16 | g.56868355C>A | CA395979614 | SLC12A3 | c.488C>A (p.Thr163Lys) c.485C>A (p.Thr162Lys) | |
| 16 | g.56868355C= | CA2224348380 | SLC12A3 | c.488C= (p.Thr163=) c.485C= (p.Thr162=) | |
| 16 | g.56868355C>G | CA395979616 | SLC12A3 | c.488C>G (p.Thr163Arg) c.485C>G (p.Thr162Arg) | |
| 16 | g.56868355C>T | CA031919 | SLC12A3 | c.488C>T (p.Thr163Met) c.485C>T (p.Thr162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.[56868355C>T;56894594G>A] | CA032069 | SLC12A3 | c.[488C>T;2585G>A] (p.[Thr163Met;Arg862His]) c.[485C>T;2582G>A] (p.[Thr162Met;Arg861His]) c.[488C>T;2612G>A] (p.[Thr163Met;Arg871His]) c.[485C>T;2609G>A] (p.[Thr162Met;Arg870His]) | ClinVar |
| 16 | g.56868356_56868358del | CA2807159738 | SLC12A3 | c.489_491del (p.Ala164del) c.486_488del (p.Ala163del) | |
| 16 | g.56868356G>A | CA8069057 | SLC12A3 | c.489G>A (p.Thr163=) c.486G>A (p.Thr162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868356G>C | CA495602811 | SLC12A3 | c.489G>C (p.Thr163=) c.486G>C (p.Thr162=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868356G= | CA2224348381 | SLC12A3 | c.489G= (p.Thr163=) c.486G= (p.Thr162=) | |
| 16 | g.56868356G>T | CA495602812 | SLC12A3 | c.489G>T (p.Thr163=) c.486G>T (p.Thr162=) | |
| 16 | g.56868357G>A | CA395979621 | SLC12A3 | c.490G>A (p.Ala164Thr) c.487G>A (p.Ala163Thr) | gnomAD v4 |
| 16 | g.56868357G>C | CA395979623 | SLC12A3 | c.490G>C (p.Ala164Pro) c.487G>C (p.Ala163Pro) | |
| 16 | g.56868357G>T | CA395979625 | SLC12A3 | c.490G>T (p.Ala164Ser) c.487G>T (p.Ala163Ser) | |
| 16 | g.56868358C>A | CA395979627 | SLC12A3 | c.491C>A (p.Ala164Asp) c.488C>A (p.Ala163Asp) | dbSNP |
| 16 | g.56868358C= | CA2224348382 | SLC12A3 | c.491C= (p.Ala164=) c.488C= (p.Ala163=) | |
| 16 | g.56868358C>G | CA395979629 | SLC12A3 | c.491C>G (p.Ala164Gly) c.488C>G (p.Ala163Gly) | |
| 16 | g.56868358C>T | CA8069058 | SLC12A3 | c.491C>T (p.Ala164Val) c.488C>T (p.Ala163Val) | dbSNP ExAC gnomAD v2 |
| 16 | g.56868359C>A | CA495602813 | SLC12A3 | c.492C>A (p.Ala164=) c.489C>A (p.Ala163=) | |
| 16 | g.56868359C>G | CA495602815 | SLC12A3 | c.492C>G (p.Ala164=) c.489C>G (p.Ala163=) | |
| 16 | g.56868359C>T | CA495602814 | SLC12A3 | c.492C>T (p.Ala164=) c.489C>T (p.Ala163=) | gnomAD v4 |
| 16 | g.56868360C>A | CA395979637 | SLC12A3 | c.493C>A (p.Gln165Lys) c.490C>A (p.Gln164Lys) | |
| 16 | g.56868360C>G | CA395979634 | SLC12A3 | c.493C>G (p.Gln165Glu) c.490C>G (p.Gln164Glu) | |
| 16 | g.56868360C>T | CA395979633 | SLC12A3 | c.493C>T (p.Gln165Ter) c.490C>T (p.Gln164Ter) | |
| 16 | g.56868361A>C | CA395979639 | SLC12A3 | c.494A>C (p.Gln165Pro) c.491A>C (p.Gln164Pro) | |
| 16 | g.56868361A>G | CA395979641 | SLC12A3 | c.494A>G (p.Gln165Arg) c.491A>G (p.Gln164Arg) | gnomAD v4 |
| 16 | g.56868361A>T | CA395979643 | SLC12A3 | c.494A>T (p.Gln165Leu) c.491A>T (p.Gln164Leu) | |
| 16 | g.56868361dup | CA2633371566 | SLC12A3 | c.494dup (p.Ala166GlyfsTer?) c.491dup (p.Ala165GlyfsTer?) | gnomAD v4 |
| 16 | g.56868362G>A | CA495602816 | SLC12A3 | c.495G>A (p.Gln165=) c.492G>A (p.Gln164=) | |
| 16 | g.56868362G>C | CA395979645 | SLC12A3 | c.495G>C (p.Gln165His) c.492G>C (p.Gln164His) | gnomAD v4 |
| 16 | g.56868362G>T | CA395979647 | SLC12A3 | c.495G>T (p.Gln165His) c.492G>T (p.Gln164His) | |
| 16 | g.56868363G>A | CA395979649 | SLC12A3 | c.496G>A (p.Ala166Thr) c.493G>A (p.Ala165Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56868363G>C | CA395979651 | SLC12A3 | c.496G>C (p.Ala166Pro) c.493G>C (p.Ala165Pro) | |
| 16 | g.56868363G= | CA2224348383 | SLC12A3 | c.496G= (p.Ala166=) c.493G= (p.Ala165=) | |
| 16 | g.56868363G>T | CA395979652 | SLC12A3 | c.496G>T (p.Ala166Ser) c.493G>T (p.Ala165Ser) | |
| 16 | g.56868364C>A | CA395979656 | SLC12A3 | c.497C>A (p.Ala166Glu) c.494C>A (p.Ala165Glu) | |
| 16 | g.56868364C= | CA2224348384 | SLC12A3 | c.497C= (p.Ala166=) c.494C= (p.Ala165=) | |
| 16 | g.56868364C>G | CA395979657 | SLC12A3 | c.497C>G (p.Ala166Gly) c.494C>G (p.Ala165Gly) | |
| 16 | g.56868364C>T | CA281493591 | SLC12A3 | c.497C>T (p.Ala166Val) c.494C>T (p.Ala165Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56868364dup | CA2807159739 | SLC12A3 | c.497dup (p.Gly167ArgfsTer?) c.494dup (p.Gly166ArgfsTer?) | |
| 16 | g.56868365_56868371del | CA2576001775 | SLC12A3 | c.498_504del (p.Gly167SerfsTer2) c.495_501del (p.Gly166SerfsTer2) | |
| 16 | g.56868365A>C | CA495602817 | SLC12A3 | c.498A>C (p.Ala166=) c.495A>C (p.Ala165=) | |
| 16 | g.56868365A>G | CA495602819 | SLC12A3 | c.498A>G (p.Ala166=) c.495A>G (p.Ala165=) | |
| 16 | g.56868365A>T | CA495602818 | SLC12A3 | c.498A>T (p.Ala166=) c.495A>T (p.Ala165=) | |
| 16 | g.56868366G>A | CA395979665 | SLC12A3 | c.499G>A (p.Gly167Ser) c.496G>A (p.Gly166Ser) | |
| 16 | g.56868366G>C | CA395979663 | SLC12A3 | c.499G>C (p.Gly167Arg) c.496G>C (p.Gly166Arg) | |
| 16 | g.56868366G>T | CA395979661 | SLC12A3 | c.499G>T (p.Gly167Cys) c.496G>T (p.Gly166Cys) |