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.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) | |
| 16 | g.56879161T>A | CA395985983 | SLC12A3 | c.1269T>A (p.Tyr423Ter) c.1266T>A (p.Tyr422Ter) | |
| 16 | g.56879161T>C | CA495603728 | SLC12A3 | c.1269T>C (p.Tyr423=) c.1266T>C (p.Tyr422=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879161T>G | CA395985985 | SLC12A3 | c.1269T>G (p.Tyr423Ter) c.1266T>G (p.Tyr422Ter) | |
| 16 | g.56879161T= | CA2224353766 | SLC12A3 | c.1269T= (p.Tyr423=) c.1266T= (p.Tyr422=) | |
| 16 | g.56879162G>A | CA395985987 | SLC12A3 | c.1270G>A (p.Gly424Ser) c.1267G>A (p.Gly423Ser) | gnomAD v4 |
| 16 | g.56879162G>C | CA395985990 | SLC12A3 | c.1270G>C (p.Gly424Arg) c.1267G>C (p.Gly423Arg) | |
| 16 | g.56879162G>T | CA395985993 | SLC12A3 | c.1270G>T (p.Gly424Cys) c.1267G>T (p.Gly423Cys) | |
| 16 | g.56879163G>A | CA395985996 | SLC12A3 | c.1271G>A (p.Gly424Asp) c.1268G>A (p.Gly423Asp) | gnomAD v4 |
| 16 | g.56879163G>C | CA395985999 | SLC12A3 | c.1271G>C (p.Gly424Ala) c.1268G>C (p.Gly423Ala) | |
| 16 | g.56879163G= | CA2224353767 | SLC12A3 | c.1271G= (p.Gly424=) c.1268G= (p.Gly423=) | |
| 16 | g.56879163G>T | CA395986002 | SLC12A3 | c.1271G>T (p.Gly424Val) c.1268G>T (p.Gly423Val) | dbSNP |
| 16 | g.56879163_56879164delinsTT | CA2695223430 | SLC12A3 | c.1271_1272delinsTT (p.Gly424Val) c.1268_1269delinsTT (p.Gly423Val) | |
| 16 | g.56879164C>A | CA495603729 | SLC12A3 | c.1272C>A (p.Gly424=) c.1269C>A (p.Gly423=) | |
| 16 | g.56879164C>G | CA495603730 | SLC12A3 | c.1272C>G (p.Gly424=) c.1269C>G (p.Gly423=) | |
| 16 | g.56879164C>T | CA495603731 | SLC12A3 | c.1272C>T (p.Gly424=) c.1269C>T (p.Gly423=) | |
| 16 | g.56879165T>A | CA395986010 | SLC12A3 | c.1273T>A (p.Trp425Arg) c.1270T>A (p.Trp424Arg) | |
| 16 | g.56879165T>C | CA395986009 | SLC12A3 | c.1273T>C (p.Trp425Arg) c.1270T>C (p.Trp424Arg) | |
| 16 | g.56879165T>G | CA395986006 | SLC12A3 | c.1273T>G (p.Trp425Gly) c.1270T>G (p.Trp424Gly) | |
| 16 | g.56879166G>A | CA395986013 | SLC12A3 | c.1274G>A (p.Trp425Ter) c.1271G>A (p.Trp424Ter) | |
| 16 | g.56879166G>C | CA395986015 | SLC12A3 | c.1274G>C (p.Trp425Ser) c.1271G>C (p.Trp424Ser) | |
| 16 | g.56879166G>T | CA395986018 | SLC12A3 | c.1274G>T (p.Trp425Leu) c.1271G>T (p.Trp424Leu) | |
| 16 | g.56879167G>A | CA395986023 | SLC12A3 | c.1275G>A (p.Trp425Ter) c.1272G>A (p.Trp424Ter) | |
| 16 | g.56879167G>C | CA395986024 | SLC12A3 | c.1275G>C (p.Trp425Cys) c.1272G>C (p.Trp424Cys) | |
| 16 | g.56879167G>T | CA395986027 | SLC12A3 | c.1275G>T (p.Trp425Cys) c.1272G>T (p.Trp424Cys) | |
| 16 | g.56879168A= | CA2224353768 | SLC12A3 | c.1276A= (p.Asn426=) c.1273A= (p.Asn425=) | |
| 16 | g.56879168A>C | CA395986030 | SLC12A3 | c.1276A>C (p.Asn426His) c.1273A>C (p.Asn425His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879168A>G | CA8069410 | SLC12A3 | c.1276A>G (p.Asn426Asp) c.1273A>G (p.Asn425Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879168A>T | CA16609823 | SLC12A3 | c.1276A>T (p.Asn426Tyr) c.1273A>T (p.Asn425Tyr) | ClinVar dbSNP |
| 16 | g.56879169A>C | CA395986034 | SLC12A3 | c.1277A>C (p.Asn426Thr) c.1274A>C (p.Asn425Thr) | |
| 16 | g.56879169A>G | CA395986043 | SLC12A3 | c.1277A>G (p.Asn426Ser) c.1274A>G (p.Asn425Ser) | |
| 16 | g.56879169A>T | CA395986045 | SLC12A3 | c.1277A>T (p.Asn426Ile) c.1274A>T (p.Asn425Ile) | |
| 16 | g.56879170C>A | CA395986051 | SLC12A3 | c.1278C>A (p.Asn426Lys) c.1275C>A (p.Asn425Lys) | |
| 16 | g.56879170C>G | CA395986048 | SLC12A3 | c.1278C>G (p.Asn426Lys) c.1275C>G (p.Asn425Lys) | |
| 16 | g.56879170C>T | CA495603732 | SLC12A3 | c.1278C>T (p.Asn426=) c.1275C>T (p.Asn425=) | |
| 16 | g.56879171T>A | CA395986054 | SLC12A3 | c.1279T>A (p.Phe427Ile) c.1276T>A (p.Phe426Ile) | |
| 16 | g.56879171T>C | CA395986057 | SLC12A3 | c.1279T>C (p.Phe427Leu) c.1276T>C (p.Phe426Leu) | |
| 16 | g.56879171T>G | CA395986056 | SLC12A3 | c.1279T>G (p.Phe427Val) c.1276T>G (p.Phe426Val) | |
| 16 | g.56879172T>A | CA395986060 | SLC12A3 | c.1280T>A (p.Phe427Tyr) c.1277T>A (p.Phe426Tyr) | |
| 16 | g.56879172T>C | CA395986062 | SLC12A3 | c.1280T>C (p.Phe427Ser) c.1277T>C (p.Phe426Ser) | gnomAD v4 |
| 16 | g.56879172T>G | CA395986066 | SLC12A3 | c.1280T>G (p.Phe427Cys) c.1277T>G (p.Phe426Cys) | |
| 16 | g.56879173C>A | CA395986069 | SLC12A3 | c.1281C>A (p.Phe427Leu) c.1278C>A (p.Phe426Leu) | |
| 16 | g.56879173C= | CA2224353769 | SLC12A3 | c.1281C= (p.Phe427=) c.1278C= (p.Phe426=) | |
| 16 | g.56879173C>G | CA395986071 | SLC12A3 | c.1281C>G (p.Phe427Leu) c.1278C>G (p.Phe426Leu) | |
| 16 | g.56879173C>T | CA495603733 | SLC12A3 | c.1281C>T (p.Phe427=) c.1278C>T (p.Phe426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56879174A>C | CA395986074 | SLC12A3 | c.1282A>C (p.Thr428Pro) c.1279A>C (p.Thr427Pro) | |
| 16 | g.56879174A>G | CA395986077 | SLC12A3 | c.1282A>G (p.Thr428Ala) c.1279A>G (p.Thr427Ala) | |
| 16 | g.56879174A>T | CA395986079 | SLC12A3 | c.1282A>T (p.Thr428Ser) c.1279A>T (p.Thr427Ser) | |
| 16 | g.56879175C>A | CA395986084 | SLC12A3 | c.1283C>A (p.Thr428Asn) c.1280C>A (p.Thr427Asn) | gnomAD v4 |
| 16 | g.56879175C>G | CA395986087 | SLC12A3 | c.1283C>G (p.Thr428Ser) c.1280C>G (p.Thr427Ser) | |
| 16 | g.56879175C>T | CA395986089 | SLC12A3 | c.1283C>T (p.Thr428Ile) c.1280C>T (p.Thr427Ile) | gnomAD v4 |
| 16 | g.56879176C>A | CA495603734 | SLC12A3 | c.1284C>A (p.Thr428=) c.1281C>A (p.Thr427=) | |
| 16 | g.56879176C= | CA2224353770 | SLC12A3 | c.1284C= (p.Thr428=) c.1281C= (p.Thr427=) | |
| 16 | g.56879176C>G | CA495603735 | SLC12A3 | c.1284C>G (p.Thr428=) c.1281C>G (p.Thr427=) | |
| 16 | g.56879176C>T | CA8069411 | SLC12A3 | c.1284C>T (p.Thr428=) c.1281C>T (p.Thr427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879177G>A | CA281501246 | SLC12A3 | c.1285G>A (p.Glu429Lys) c.1282G>A (p.Glu428Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879177G>C | CA8069412 | SLC12A3 | c.1285G>C (p.Glu429Gln) c.1282G>C (p.Glu428Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879177G= | CA2224353771 | SLC12A3 | c.1285G= (p.Glu429=) c.1282G= (p.Glu428=) | |
| 16 | g.56879177G>T | CA395986100 | SLC12A3 | c.1285G>T (p.Glu429Ter) c.1282G>T (p.Glu428Ter) | |
| 16 | g.56879178A>C | CA395986105 | SLC12A3 | c.1286A>C (p.Glu429Ala) c.1283A>C (p.Glu428Ala) | |
| 16 | g.56879178A>G | CA395986108 | SLC12A3 | c.1286A>G (p.Glu429Gly) c.1283A>G (p.Glu428Gly) | |
| 16 | g.56879178A>T | CA395986111 | SLC12A3 | c.1286A>T (p.Glu429Val) c.1283A>T (p.Glu428Val) | |
| 16 | g.56879178_56879179insCT | CA2569190443 | SLC12A3 | c.1286_1287insCT (p.Glu429AspfsTer20) c.1283_1284insCT (p.Glu428AspfsTer20) | |
| 16 | g.56879179G>A | CA8069413 | SLC12A3 | c.1287G>A (p.Glu429=) c.1284G>A (p.Glu428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879179G>C | CA395986115 | SLC12A3 | c.1287G>C (p.Glu429Asp) c.1284G>C (p.Glu428Asp) | |
| 16 | g.56879179G= | CA2224353772 | SLC12A3 | c.1287G= (p.Glu429=) c.1284G= (p.Glu428=) | |
| 16 | g.56879179G>T | CA395986117 | SLC12A3 | c.1287G>T (p.Glu429Asp) c.1284G>T (p.Glu428Asp) | |
| 16 | g.56879179_56879188del | CA2695223431 | SLC12A3 | c.1287_1296del (p.Glu429AspfsTer16) c.1284_1293del (p.Glu428AspfsTer16) | |
| 16 | g.56879180T>A | CA395986121 | SLC12A3 | c.1288T>A (p.Cys430Ser) c.1285T>A (p.Cys429Ser) | ClinVar gnomAD v4 |
| 16 | g.56879180T>C | CA395986123 | SLC12A3 | c.1288T>C (p.Cys430Arg) c.1285T>C (p.Cys429Arg) | |
| 16 | g.56879180T>G | CA395986127 | SLC12A3 | c.1288T>G (p.Cys430Gly) c.1285T>G (p.Cys429Gly) | ClinVar dbSNP |
| 16 | g.56879181G>A | CA395986134 | SLC12A3 | c.1289G>A (p.Cys430Tyr) c.1286G>A (p.Cys429Tyr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879181G>C | CA395986137 | SLC12A3 | c.1289G>C (p.Cys430Ser) c.1286G>C (p.Cys429Ser) | |
| 16 | g.56879181G= | CA2224353773 | SLC12A3 | c.1289G= (p.Cys430=) c.1286G= (p.Cys429=) | |
| 16 | g.56879181G>T | CA395986132 | SLC12A3 | c.1289G>T (p.Cys430Phe) c.1286G>T (p.Cys429Phe) | |
| 16 | g.56879182C>A | CA395986141 | SLC12A3 | c.1290C>A (p.Cys430Ter) c.1287C>A (p.Cys429Ter) | |
| 16 | g.56879182C>G | CA395986143 | SLC12A3 | c.1290C>G (p.Cys430Trp) c.1287C>G (p.Cys429Trp) | |
| 16 | g.56879182C>T | CA495603736 | SLC12A3 | c.1290C>T (p.Cys430=) c.1287C>T (p.Cys429=) | COSMIC |
| 16 | g.56879183_56879184del | CA2509320707 | SLC12A3 | c.1291_1292del (p.Thr431ProfsTer?) c.1288_1289del (p.Thr430ProfsTer?) | |
| 16 | g.56879183A= | CA2224353774 | SLC12A3 | c.1291A= (p.Thr431=) c.1288A= (p.Thr430=) | |
| 16 | g.56879183A>C | CA281501256 | SLC12A3 | c.1291A>C (p.Thr431Pro) c.1288A>C (p.Thr430Pro) | dbSNP |
| 16 | g.56879183A>G | CA8069414 | SLC12A3 | c.1291A>G (p.Thr431Ala) c.1288A>G (p.Thr430Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879183A>T | CA395986152 | SLC12A3 | c.1291A>T (p.Thr431Ser) c.1288A>T (p.Thr430Ser) | |
| 16 | g.56879184C>A | CA395986156 | SLC12A3 | c.1292C>A (p.Thr431Asn) c.1289C>A (p.Thr430Asn) | |
| 16 | g.56879184C= | CA2224353775 | SLC12A3 | c.1292C= (p.Thr431=) c.1289C= (p.Thr430=) | |
| 16 | g.56879184C>G | CA8069415 | SLC12A3 | c.1292C>G (p.Thr431Ser) c.1289C>G (p.Thr430Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879184C>T | CA395986159 | SLC12A3 | c.1292C>T (p.Thr431Ile) c.1289C>T (p.Thr430Ile) | gnomAD v4 |
| 16 | g.56879185C>A | CA495603737 | SLC12A3 | c.1293C>A (p.Thr431=) c.1290C>A (p.Thr430=) | ClinVar |
| 16 | g.56879185C>G | CA495603738 | SLC12A3 | c.1293C>G (p.Thr431=) c.1290C>G (p.Thr430=) | |
| 16 | g.56879185C>T | CA495603739 | SLC12A3 | c.1293C>T (p.Thr431=) c.1290C>T (p.Thr430=) | |
| 16 | g.56879186C>A | CA395986161 | SLC12A3 | c.1294C>A (p.Gln432Lys) c.1291C>A (p.Gln431Lys) | |
| 16 | g.56879186C>G | CA395986163 | SLC12A3 | c.1294C>G (p.Gln432Glu) c.1291C>G (p.Gln431Glu) | |
| 16 | g.56879186C>T | CA395986165 | SLC12A3 | c.1294C>T (p.Gln432Ter) c.1291C>T (p.Gln431Ter) | |
| 16 | g.56879186_56879196delinsCAGCAGCACAG | CA2224353776 | SLC12A3 | c.1294_1304delinsCAGCAGCACAG (p.Gln432=) c.1291_1301delinsCAGCAGCACAG (p.Gln431=) | |
| 16 | g.56879187A= | CA2224353777 | SLC12A3 | c.1295A= (p.Gln432=) c.1292A= (p.Gln431=) | |
| 16 | g.56879187A>C | CA395986174 | SLC12A3 | c.1295A>C (p.Gln432Pro) c.1292A>C (p.Gln431Pro) | |
| 16 | g.56879187A>G | CA8069416 | SLC12A3 | c.1295A>G (p.Gln432Arg) c.1292A>G (p.Gln431Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879187A>T | CA395986171 | SLC12A3 | c.1295A>T (p.Gln432Leu) c.1292A>T (p.Gln431Leu) | |
| 16 | g.56879187_56879196del | CA281501259 | SLC12A3 | c.1295_1304del (p.Gln432ProfsTer13) c.1292_1301del (p.Gln431ProfsTer13) | dbSNP |
| 16 | g.56879188G>A | CA495603740 | SLC12A3 | c.1296G>A (p.Gln432=) c.1293G>A (p.Gln431=) | |
| 16 | g.56879188G>C | CA395986181 | SLC12A3 | c.1296G>C (p.Gln432His) c.1293G>C (p.Gln431His) | |
| 16 | g.56879188G>T | CA395986184 | SLC12A3 | c.1296G>T (p.Gln432His) c.1293G>T (p.Gln431His) | |
| 16 | g.56879188_56879197del | CA395986186 | SLC12A3 | c.1296_1305del (p.Gln432HisfsTer13) c.1293_1302del (p.Gln431HisfsTer13) | |
| 16 | g.56879189C>A | CA395986190 | SLC12A3 | c.1297C>A (p.Gln433Lys) c.1294C>A (p.Gln432Lys) | gnomAD v4 |
| 16 | g.56879189C>G | CA395986192 | SLC12A3 | c.1297C>G (p.Gln433Glu) c.1294C>G (p.Gln432Glu) | |
| 16 | g.56879189C>T | CA395986195 | SLC12A3 | c.1297C>T (p.Gln433Ter) c.1294C>T (p.Gln432Ter) | |
| 16 | g.56879190A>C | CA395986199 | SLC12A3 | c.1298A>C (p.Gln433Pro) c.1295A>C (p.Gln432Pro) | |
| 16 | g.56879190A>G | CA395986204 | SLC12A3 | c.1298A>G (p.Gln433Arg) c.1295A>G (p.Gln432Arg) | |
| 16 | g.56879190A>T | CA395986201 | SLC12A3 | c.1298A>T (p.Gln433Leu) c.1295A>T (p.Gln432Leu) | |
| 16 | g.56879190_56879200delinsTG | CA2695223432 | SLC12A3 | c.1298_1308delinsTG (p.Gln433_Cys436delinsLeu) c.1295_1305delinsTG (p.Gln432_Cys435delinsLeu) | |
| 16 | g.56879191G>A | CA495603741 | SLC12A3 | c.1299G>A (p.Gln433=) c.1296G>A (p.Gln432=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879191G>C | CA395986207 | SLC12A3 | c.1299G>C (p.Gln433His) c.1296G>C (p.Gln432His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879191G= | CA2224353778 | SLC12A3 | c.1299G= (p.Gln433=) c.1296G= (p.Gln432=) | |
| 16 | g.56879191G>T | CA395986208 | SLC12A3 | c.1299G>T (p.Gln433His) c.1296G>T (p.Gln432His) | |
| 16 | g.56879192C>A | CA395986209 | SLC12A3 | c.1300C>A (p.His434Asn) c.1297C>A (p.His433Asn) | |
| 16 | g.56879192C>G | CA395986210 | SLC12A3 | c.1300C>G (p.His434Asp) c.1297C>G (p.His433Asp) | |
| 16 | g.56879192C>T | CA395986211 | SLC12A3 | c.1300C>T (p.His434Tyr) c.1297C>T (p.His433Tyr) | gnomAD v4 |
| 16 | g.56879193A= | CA2224353779 | SLC12A3 | c.1301A= (p.His434=) c.1298A= (p.His433=) | |
| 16 | g.56879193A>C | CA281501270 | SLC12A3 | c.1301A>C (p.His434Pro) c.1298A>C (p.His433Pro) | dbSNP |
| 16 | g.56879193A>G | CA395986218 | SLC12A3 | c.1301A>G (p.His434Arg) c.1298A>G (p.His433Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879193A>T | CA395986214 | SLC12A3 | c.1301A>T (p.His434Leu) c.1298A>T (p.His433Leu) | |
| 16 | g.56879194C>A | CA395986223 | SLC12A3 | c.1302C>A (p.His434Gln) c.1299C>A (p.His433Gln) | dbSNP |
| 16 | g.56879194C= | CA2224353780 | SLC12A3 | c.1302C= (p.His434=) c.1299C= (p.His433=) | |
| 16 | g.56879194C>G | CA395986222 | SLC12A3 | c.1302C>G (p.His434Gln) c.1299C>G (p.His433Gln) | |
| 16 | g.56879194C>T | CA495603742 | SLC12A3 | c.1302C>T (p.His434=) c.1299C>T (p.His433=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879195A>C | CA395986234 | SLC12A3 | c.1303A>C (p.Ser435Arg) c.1300A>C (p.Ser434Arg) | |
| 16 | g.56879195A>G | CA395986228 | SLC12A3 | c.1303A>G (p.Ser435Gly) c.1300A>G (p.Ser434Gly) | |
| 16 | g.56879195A>T | CA395986231 | SLC12A3 | c.1303A>T (p.Ser435Cys) c.1300A>T (p.Ser434Cys) | |
| 16 | g.56879196G>A | CA395986237 | SLC12A3 | c.1304G>A (p.Ser435Asn) c.1301G>A (p.Ser434Asn) | |
| 16 | g.56879196G>C | CA8069417 | SLC12A3 | c.1304G>C (p.Ser435Thr) c.1301G>C (p.Ser434Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879196G= | CA2224353781 | SLC12A3 | c.1304G= (p.Ser435=) c.1301G= (p.Ser434=) | |
| 16 | g.56879196G>T | CA395986241 | SLC12A3 | c.1304G>T (p.Ser435Ile) c.1301G>T (p.Ser434Ile) | dbSNP |
| 16 | g.56879198_56879209del | CA2576001786 | SLC12A3 | c.1306_1317del (p.Cys436_Gly439del) c.1303_1314del (p.Cys435_Gly438del) | |
| 16 | g.56879197C>A | CA395986243 | SLC12A3 | c.1305C>A (p.Ser435Arg) c.1302C>A (p.Ser434Arg) | |
| 16 | g.56879197C>G | CA395986246 | SLC12A3 | c.1305C>G (p.Ser435Arg) c.1302C>G (p.Ser434Arg) | |
| 16 | g.56879197C>T | CA495603743 | SLC12A3 | c.1305C>T (p.Ser435=) c.1302C>T (p.Ser434=) | |
| 16 | g.56879198T>A | CA395986251 | SLC12A3 | c.1306T>A (p.Cys436Ser) c.1303T>A (p.Cys435Ser) | |
| 16 | g.56879198T>C | CA395986253 | SLC12A3 | c.1306T>C (p.Cys436Arg) c.1303T>C (p.Cys435Arg) | |
| 16 | g.56879198T>G | CA395986256 | SLC12A3 | c.1306T>G (p.Cys436Gly) c.1303T>G (p.Cys435Gly) | |
| 16 | g.56879199G>A | CA395986259 | SLC12A3 | c.1307G>A (p.Cys436Tyr) c.1304G>A (p.Cys435Tyr) | |
| 16 | g.56879199G>C | CA395986262 | SLC12A3 | c.1307G>C (p.Cys436Ser) c.1304G>C (p.Cys435Ser) | |
| 16 | g.56879199G>T | CA395986264 | SLC12A3 | c.1307G>T (p.Cys436Phe) c.1304G>T (p.Cys435Phe) | |
| 16 | g.56879200C>A | CA395986267 | SLC12A3 | c.1308C>A (p.Cys436Ter) c.1305C>A (p.Cys435Ter) | |
| 16 | g.56879200C>G | CA395986270 | SLC12A3 | c.1308C>G (p.Cys436Trp) c.1305C>G (p.Cys435Trp) | |
| 16 | g.56879200C>T | CA495603744 | SLC12A3 | c.1308C>T (p.Cys436=) c.1305C>T (p.Cys435=) | ClinVar gnomAD v4 |
| 16 | g.56879201C>A | CA395986273 | SLC12A3 | c.1309C>A (p.His437Asn) c.1306C>A (p.His436Asn) | |
| 16 | g.56879201C>G | CA395986276 | SLC12A3 | c.1309C>G (p.His437Asp) c.1306C>G (p.His436Asp) | |
| 16 | g.56879201C>T | CA395986279 | SLC12A3 | c.1309C>T (p.His437Tyr) c.1306C>T (p.His436Tyr) | gnomAD v4 |
| 16 | g.56879202A= | CA2224353782 | SLC12A3 | c.1310A= (p.His437=) c.1307A= (p.His436=) | |
| 16 | g.56879202A>C | CA395986282 | SLC12A3 | c.1310A>C (p.His437Pro) c.1307A>C (p.His436Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879202A>G | CA395986284 | SLC12A3 | c.1310A>G (p.His437Arg) c.1307A>G (p.His436Arg) | |
| 16 | g.56879202A>T | CA395986289 | SLC12A3 | c.1310A>T (p.His437Leu) c.1307A>T (p.His436Leu) | |
| 16 | g.56879203C>A | CA395986293 | SLC12A3 | c.1311C>A (p.His437Gln) c.1308C>A (p.His436Gln) | |
| 16 | g.56879203C= | CA2224353783 | SLC12A3 | c.1311C= (p.His437=) c.1308C= (p.His436=) | |
| 16 | g.56879203C>G | CA395986295 | SLC12A3 | c.1311C>G (p.His437Gln) c.1308C>G (p.His436Gln) | |
| 16 | g.56879203C>T | CA495603745 | SLC12A3 | c.1311C>T (p.His437=) c.1308C>T (p.His436=) | dbSNP |
| 16 | g.56879204T>A | CA395986299 | SLC12A3 | c.1312T>A (p.Tyr438Asn) c.1309T>A (p.Tyr437Asn) | |
| 16 | g.56879204T>C | CA395986302 | SLC12A3 | c.1312T>C (p.Tyr438His) c.1309T>C (p.Tyr437His) | |
| 16 | g.56879204T>G | CA395986303 | SLC12A3 | c.1312T>G (p.Tyr438Asp) c.1309T>G (p.Tyr437Asp) | |
| 16 | g.56879205A>C | CA395986309 | SLC12A3 | c.1313A>C (p.Tyr438Ser) c.1310A>C (p.Tyr437Ser) | gnomAD v4 |
| 16 | g.56879205A>G | CA395986312 | SLC12A3 | c.1313A>G (p.Tyr438Cys) c.1310A>G (p.Tyr437Cys) | |
| 16 | g.56879205A>T | CA395986307 | SLC12A3 | c.1313A>T (p.Tyr438Phe) c.1310A>T (p.Tyr437Phe) | |
| 16 | g.56879206C>A | CA395986315 | SLC12A3 | c.1314C>A (p.Tyr438Ter) c.1311C>A (p.Tyr437Ter) | |
| 16 | g.56879206C= | CA2224353784 | SLC12A3 | c.1314C= (p.Tyr438=) c.1311C= (p.Tyr437=) | |
| 16 | g.56879206C>G | CA395986317 | SLC12A3 | c.1314C>G (p.Tyr438Ter) c.1311C>G (p.Tyr437Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879206C>T | CA8069418 | SLC12A3 | c.1314C>T (p.Tyr438=) c.1311C>T (p.Tyr437=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879207G>A | CA8069419 | SLC12A3 | c.1315G>A (p.Gly439Ser) c.1312G>A (p.Gly438Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879207G>C | CA395986323 | SLC12A3 | c.1315G>C (p.Gly439Arg) c.1312G>C (p.Gly438Arg) | |
| 16 | g.56879207G= | CA2224353785 | SLC12A3 | c.1315G= (p.Gly439=) c.1312G= (p.Gly438=) | |
| 16 | g.56879207G>T | CA395986326 | SLC12A3 | c.1315G>T (p.Gly439Cys) c.1312G>T (p.Gly438Cys) | |
| 16 | g.56879208G>A | CA395986330 | SLC12A3 | c.1316G>A (p.Gly439Asp) c.1313G>A (p.Gly438Asp) | |
| 16 | g.56879208G>C | CA395986333 | SLC12A3 | c.1316G>C (p.Gly439Ala) c.1313G>C (p.Gly438Ala) | |
| 16 | g.56879208G= | CA2224353786 | SLC12A3 | c.1316G= (p.Gly439=) c.1313G= (p.Gly438=) | |
| 16 | g.56879208G>T | CA395986336 | SLC12A3 | c.1316G>T (p.Gly439Val) c.1313G>T (p.Gly438Val) | dbSNP gnomAD v4 |
| 16 | g.56879209C>A | CA495603746 | SLC12A3 | c.1317C>A (p.Gly439=) c.1314C>A (p.Gly438=) | |
| 16 | g.56879209C= | CA2224353787 | SLC12A3 | c.1317C= (p.Gly439=) c.1314C= (p.Gly438=) | |
| 16 | g.56879209C>G | CA495603747 | SLC12A3 | c.1317C>G (p.Gly439=) c.1314C>G (p.Gly438=) | |
| 16 | g.56879209C>T | CA8069420 | SLC12A3 | c.1317C>T (p.Gly439=) c.1314C>T (p.Gly438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879210C>A | CA395986342 | SLC12A3 | c.1318C>A (p.Leu440Ile) c.1315C>A (p.Leu439Ile) | |
| 16 | g.56879210C>G | CA395986344 | SLC12A3 | c.1318C>G (p.Leu440Val) c.1315C>G (p.Leu439Val) | |
| 16 | g.56879210C>T | CA395986347 | SLC12A3 | c.1318C>T (p.Leu440Phe) c.1315C>T (p.Leu439Phe) | |
| 16 | g.56879211T>A | CA395986354 | SLC12A3 | c.1319T>A (p.Leu440His) c.1316T>A (p.Leu439His) | |
| 16 | g.56879211T>C | CA395986352 | SLC12A3 | c.1319T>C (p.Leu440Pro) c.1316T>C (p.Leu439Pro) | |
| 16 | g.56879211T>G | CA395986351 | SLC12A3 | c.1319T>G (p.Leu440Arg) c.1316T>G (p.Leu439Arg) | |
| 16 | g.56879212C>A | CA495603750 | SLC12A3 | c.1320C>A (p.Leu440=) c.1317C>A (p.Leu439=) | |
| 16 | g.56879212C= | CA2224353788 | SLC12A3 | c.1320C= (p.Leu440=) c.1317C= (p.Leu439=) | |
| 16 | g.56879212C>G | CA495603748 | SLC12A3 | c.1320C>G (p.Leu440=) c.1317C>G (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879212C>T | CA495603749 | SLC12A3 | c.1320C>T (p.Leu440=) c.1317C>T (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879213A= | CA2224353789 | SLC12A3 | c.1321A= (p.Ile441=) c.1318A= (p.Ile440=) | |
| 16 | g.56879213A>C | CA395986357 | SLC12A3 | c.1321A>C (p.Ile441Leu) c.1318A>C (p.Ile440Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879213A>G | CA395986359 | SLC12A3 | c.1321A>G (p.Ile441Val) c.1318A>G (p.Ile440Val) | gnomAD v4 |
| 16 | g.56879213A>T | CA395986360 | SLC12A3 | c.1321A>T (p.Ile441Phe) c.1318A>T (p.Ile440Phe) | |
| 16 | g.56879214T>A | CA395986365 | SLC12A3 | c.1322T>A (p.Ile441Asn) c.1319T>A (p.Ile440Asn) | |
| 16 | g.56879214T>C | CA395986368 | SLC12A3 | c.1322T>C (p.Ile441Thr) c.1319T>C (p.Ile440Thr) | |
| 16 | g.56879214T>G | CA395986371 | SLC12A3 | c.1322T>G (p.Ile441Ser) c.1319T>G (p.Ile440Ser) | |
| 16 | g.56879215C>A | CA495603751 | SLC12A3 | c.1323C>A (p.Ile441=) c.1320C>A (p.Ile440=) | |
| 16 | g.56879215C= | CA2224353790 | SLC12A3 | c.1323C= (p.Ile441=) c.1320C= (p.Ile440=) | |
| 16 | g.56879215C>G | CA395986373 | SLC12A3 | c.1323C>G (p.Ile441Met) c.1320C>G (p.Ile440Met) | |
| 16 | g.56879215C>T | CA281501289 | SLC12A3 | c.1323C>T (p.Ile441=) c.1320C>T (p.Ile440=) | dbSNP |
| 16 | g.56879216A>C | CA395986376 | SLC12A3 | c.1324A>C (p.Asn442His) c.1321A>C (p.Asn441His) | |
| 16 | g.56879216A>G | CA395986387 | SLC12A3 | c.1324A>G (p.Asn442Asp) c.1321A>G (p.Asn441Asp) | |
| 16 | g.56879216A>T | CA395986389 | SLC12A3 | c.1324A>T (p.Asn442Tyr) c.1321A>T (p.Asn441Tyr) | |
| 16 | g.56879217A>C | CA395986391 | SLC12A3 | c.1325A>C (p.Asn442Thr) c.1322A>C (p.Asn441Thr) | gnomAD v4 |
| 16 | g.56879217A>G | CA395986392 | SLC12A3 | c.1325A>G (p.Asn442Ser) c.1322A>G (p.Asn441Ser) | gnomAD v4 |
| 16 | g.56879217A>T | CA395986394 | SLC12A3 | c.1325A>T (p.Asn442Ile) c.1322A>T (p.Asn441Ile) | |
| 16 | g.56879218C>A | CA395986398 | SLC12A3 | c.1326C>A (p.Asn442Lys) c.1323C>A (p.Asn441Lys) | |
| 16 | g.56879218C= | CA2224353791 | SLC12A3 | c.1326C= (p.Asn442=) c.1323C= (p.Asn441=) | |
| 16 | g.56879218C>G | CA8069421 | SLC12A3 | c.1326C>G (p.Asn442Lys) c.1323C>G (p.Asn441Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879218C>T | CA495603752 | SLC12A3 | c.1326C>T (p.Asn442=) c.1323C>T (p.Asn441=) | gnomAD v4 |
| 16 | g.56879219T>A | CA395986402 | SLC12A3 | c.1327T>A (p.Tyr443Asn) c.1324T>A (p.Tyr442Asn) | |
| 16 | g.56879219T>C | CA395986408 | SLC12A3 | c.1327T>C (p.Tyr443His) c.1324T>C (p.Tyr442His) | |
| 16 | g.56879219T>G | CA395986405 | SLC12A3 | c.1327T>G (p.Tyr443Asp) c.1324T>G (p.Tyr442Asp) | |
| 16 | g.56879220A= | CA2224353792 | SLC12A3 | c.1328A= (p.Tyr443=) c.1325A= (p.Tyr442=) | |
| 16 | g.56879220A>C | CA395986411 | SLC12A3 | c.1328A>C (p.Tyr443Ser) c.1325A>C (p.Tyr442Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879220A>G | CA8069422 | SLC12A3 | c.1328A>G (p.Tyr443Cys) c.1325A>G (p.Tyr442Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879220A>T | CA395986416 | SLC12A3 | c.1328A>T (p.Tyr443Phe) c.1325A>T (p.Tyr442Phe) | |
| 16 | g.56879221T>A | CA395986418 | SLC12A3 | c.1329T>A (p.Tyr443Ter) c.1326T>A (p.Tyr442Ter) | |
| 16 | g.56879221T>C | CA495603753 | SLC12A3 | c.1329T>C (p.Tyr443=) c.1326T>C (p.Tyr442=) | ClinVar |
| 16 | g.56879221T>G | CA395986419 | SLC12A3 | c.1329T>G (p.Tyr443Ter) c.1326T>G (p.Tyr442Ter) | |
| 16 | g.56879222T>A | CA395986422 | SLC12A3 | c.1330T>A (p.Tyr444Asn) c.1327T>A (p.Tyr443Asn) | |
| 16 | g.56879222T>C | CA395986424 | SLC12A3 | c.1330T>C (p.Tyr444His) c.1327T>C (p.Tyr443His) | |
| 16 | g.56879222T>G | CA395986425 | SLC12A3 | c.1330T>G (p.Tyr444Asp) c.1327T>G (p.Tyr443Asp) | |
| 16 | g.56879223del | CA2695223433 | SLC12A3 | c.1331del (p.Tyr444SerfsTer4) c.1328del (p.Tyr443SerfsTer4) | |
| 16 | g.56879223A>C | CA395986428 | SLC12A3 | c.1331A>C (p.Tyr444Ser) c.1328A>C (p.Tyr443Ser) | |
| 16 | g.56879223A>G | CA395986431 | SLC12A3 | c.1331A>G (p.Tyr444Cys) c.1328A>G (p.Tyr443Cys) | |
| 16 | g.56879223A>T | CA395986432 | SLC12A3 | c.1331A>T (p.Tyr444Phe) c.1328A>T (p.Tyr443Phe) | |
| 16 | g.56879224C>A | CA395986442 | SLC12A3 | c.1332C>A (p.Tyr444Ter) c.1329C>A (p.Tyr443Ter) | ClinVar dbSNP |
| 16 | g.56879224C= | CA2224353793 | SLC12A3 | c.1332C= (p.Tyr444=) c.1329C= (p.Tyr443=) | |
| 16 | g.56879224C>G | CA395986437 | SLC12A3 | c.1332C>G (p.Tyr444Ter) c.1329C>G (p.Tyr443Ter) | ClinVar |
| 16 | g.56879224C>T | CA8069423 | SLC12A3 | c.1332C>T (p.Tyr444=) c.1329C>T (p.Tyr443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879225C>A | CA395986445 | SLC12A3 | c.1333C>A (p.Gln445Lys) c.1330C>A (p.Gln444Lys) | gnomAD v4 |
| 16 | g.56879225C>G | CA395986448 | SLC12A3 | c.1333C>G (p.Gln445Glu) c.1330C>G (p.Gln444Glu) | |
| 16 | g.56879225C>T | CA395986450 | SLC12A3 | c.1333C>T (p.Gln445Ter) c.1330C>T (p.Gln444Ter) | gnomAD v4 |
| 16 | g.56879226A>C | CA395986453 | SLC12A3 | c.1334A>C (p.Gln445Pro) c.1331A>C (p.Gln444Pro) | |
| 16 | g.56879226A>G | CA395986455 | SLC12A3 | c.1334A>G (p.Gln445Arg) c.1331A>G (p.Gln444Arg) | |
| 16 | g.56879226A>T | CA395986458 | SLC12A3 | c.1334A>T (p.Gln445Leu) c.1331A>T (p.Gln444Leu) | |
| 16 | g.56879226_56879232delinsAGGTACT | CA2224353794 | SLC12A3 | c.1334_1335+5delinsAGGTACT c.1331_1332+5delinsAGGTACT | |
| 16 | g.56879227G>A | CA495603754 | SLC12A3 | c.1335G>A (p.Gln445=) c.1332G>A (p.Gln444=) | |
| 16 | g.56879227G>C | CA8069425 | SLC12A3 | c.1335G>C (p.Gln445His) c.1332G>C (p.Gln444His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879227G= | CA2224353795 | SLC12A3 | c.1335G= (p.Gln445=) c.1332G= (p.Gln444=) | |
| 16 | g.56879227G>T | CA395986463 | SLC12A3 | c.1335G>T (p.Gln445His) c.1332G>T (p.Gln444His) | |
| 16 | g.56879228_56879233del | CA8069424 | SLC12A3 | c.1335+1_1335+6del c.1332+1_1332+6del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879228G>A | CA395986469 | SLC12A3 | c.1335+1G>A (n.1335+1G>A) c.1332+1G>A (n.1332+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879228G>C | CA8069426 | SLC12A3 | c.1335+1G>C (n.1335+1G>C) c.1332+1G>C (n.1332+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879228G= | CA2224353796 | SLC12A3 | c.1335+1G= (n.1335+1G=) c.1332+1G= (n.1332+1G=) | |
| 16 | g.56879228G>T | CA395986473 | SLC12A3 | c.1335+1G>T (n.1335+1G>T) c.1332+1G>T (n.1332+1G>T) | |
| 16 | g.56879229T>A | CA395986481 | SLC12A3 | c.1335+2T>A (n.1335+2T>A) c.1332+2T>A (n.1332+2T>A) | |
| 16 | g.56879229T>C | CA395986484 | SLC12A3 | c.1335+2T>C (n.1335+2T>C) c.1332+2T>C (n.1332+2T>C) | ClinVar dbSNP |
| 16 | g.56879229T>G | CA395986479 | SLC12A3 | c.1335+2T>G (n.1335+2T>G) c.1332+2T>G (n.1332+2T>G) | |
| 16 | g.56879230A= | CA2224353798 | SLC12A3 | c.1335+3A= (n.1335+3A=) c.1332+3A= (n.1332+3A=) | |
| 16 | g.56879230A>T | CA2224353797 | SLC12A3 | c.1335+3A>T (n.1335+3A>T) c.1332+3A>T (n.1332+3A>T) | dbSNP |
| 16 | g.56879233G= | CA2224353799 | SLC12A3 | c.1335+6G= (n.1335+6G=) c.1332+6G= (n.1332+6G=) | |
| 16 | g.56879233G>T | CA622336410 | SLC12A3 | c.1335+6G>T (n.1335+6G>T) c.1332+6G>T (n.1332+6G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879235del | CA2499223593 | SLC12A3 | c.1335+8del (n.1335+8del) c.1332+8del (n.1332+8del) | ClinVar dbSNP |
| 16 | g.56879235C= | CA2224353800 | SLC12A3 | c.1335+8C= (n.1335+8C=) c.1332+8C= (n.1332+8C=) | |
| 16 | g.56879235C>T | CA2224353801 | SLC12A3 | c.1335+8C>T (n.1335+8C>T) c.1332+8C>T (n.1332+8C>T) | dbSNP |
| 16 | g.56879239A= | CA2224353802 | SLC12A3 | c.1335+12A= (n.1335+12A=) c.1332+12A= (n.1332+12A=) | |
| 16 | g.56879239A>C | CA2739266777 | SLC12A3 | c.1335+12A>C (n.1335+12A>C) c.1332+12A>C (n.1332+12A>C) | ClinVar |
| 16 | g.56879239A>G | CA977643879 | SLC12A3 | c.1335+12A>G (n.1335+12A>G) c.1332+12A>G (n.1332+12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879240G>A | CA8069427 | SLC12A3 | c.1335+13G>A (n.1335+13G>A) c.1332+13G>A (n.1332+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879240G>C | CA622336413 | SLC12A3 | c.1335+13G>C (n.1335+13G>C) c.1332+13G>C (n.1332+13G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879240G= | CA2224353803 | SLC12A3 | c.1335+13G= (n.1335+13G=) c.1332+13G= (n.1332+13G=) | |
| 16 | g.56879241A>G | CA2633379764 | SLC12A3 | c.1335+14A>G (n.1335+14A>G) c.1332+14A>G (n.1332+14A>G) | gnomAD v4 |
| 16 | g.56879242G>A | CA2697555864 | SLC12A3 | c.1335+15G>A (n.1335+15G>A) c.1332+15G>A (n.1332+15G>A) | ClinVar |
| 16 | g.56879242G>C | CA2576001804 | SLC12A3 | c.1335+15G>C (n.1335+15G>C) c.1332+15G>C (n.1332+15G>C) | |
| 16 | g.56879243C= | CA2224353804 | SLC12A3 | c.1335+16C= (n.1335+16C=) c.1332+16C= (n.1332+16C=) | |
| 16 | g.56879243C>T | CA8069428 | SLC12A3 | c.1335+16C>T (n.1335+16C>T) c.1332+16C>T (n.1332+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879244T>C | CA2633379768 | SLC12A3 | c.1335+17T>C (n.1335+17T>C) c.1332+17T>C (n.1332+17T>C) | gnomAD v4 |
| 16 | g.56879245G>A | CA2739266778 | SLC12A3 | c.1335+18G>A (n.1335+18G>A) c.1332+18G>A (n.1332+18G>A) | ClinVar |
| 16 | g.56879247C>G | CA2633379770 | SLC12A3 | c.1335+20C>G (n.1335+20C>G) c.1332+20C>G (n.1332+20C>G) | gnomAD v4 |
| 16 | g.56879247C>T | CA2697555865 | SLC12A3 | c.1335+20C>T (n.1335+20C>T) c.1332+20C>T (n.1332+20C>T) | ClinVar |
| 16 | g.56879248C= | CA2224353805 | SLC12A3 | c.1335+21C= (n.1335+21C=) c.1332+21C= (n.1332+21C=) | |
| 16 | g.56879248C>T | CA722009226 | SLC12A3 | c.1335+21C>T (n.1335+21C>T) c.1332+21C>T (n.1332+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879249C>T | CA2633379773 | SLC12A3 | c.1335+22C>T (n.1335+22C>T) c.1332+22C>T (n.1332+22C>T) | gnomAD v4 |
| 16 | g.56879251C= | CA2224353806 | SLC12A3 | c.1335+24C= (n.1335+24C=) c.1332+24C= (n.1332+24C=) | |
| 16 | g.56879251C>T | CA622336414 | SLC12A3 | c.1335+24C>T (n.1335+24C>T) c.1332+24C>T (n.1332+24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879252C= | CA2224353807 | SLC12A3 | c.1335+25C= (n.1335+25C=) c.1332+25C= (n.1332+25C=) | |
| 16 | g.56879252C>T | CA622336416 | SLC12A3 | c.1335+25C>T (n.1335+25C>T) c.1332+25C>T (n.1332+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879253_56879254insAACACACCC | CA2807160398 | SLC12A3 | c.1335+26_1335+27insAACACACCC (n.1335+26_1335+27insAACACACCC) c.1332+26_1332+27insAACACACCC (n.1332+26_1332+27insAACACACCC) | |
| 16 | g.56879254G>A | CA2633379780 | SLC12A3 | c.1335+27G>A (n.1335+27G>A) c.1332+27G>A (n.1332+27G>A) | gnomAD v4 |
| 16 | g.56879254_56879255delinsGA | CA2224353808 | SLC12A3 | c.1335+27_1335+28delinsGA (n.1335+27_1335+28delinsGA) c.1332+27_1332+28delinsGA (n.1332+27_1332+28delinsGA) | |
| 16 | g.56879255del | CA622336417 | SLC12A3 | c.1335+28del (n.1335+28del) c.1332+28del (n.1332+28del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879255A>G | CA2807160400 | SLC12A3 | c.1335+28A>G (n.1335+28A>G) c.1332+28A>G (n.1332+28A>G) | |
| 16 | g.56879257A= | CA2224353809 | SLC12A3 | c.1335+30A= (n.1335+30A=) c.1332+30A= (n.1332+30A=) | |
| 16 | g.56879257A>G | CA622336419 | SLC12A3 | c.1335+30A>G (n.1335+30A>G) c.1332+30A>G (n.1332+30A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879258C= | CA2224353810 | SLC12A3 | c.1335+31C= (n.1335+31C=) c.1332+31C= (n.1332+31C=) | |
| 16 | g.56879258C>G | CA2224353811 | SLC12A3 | c.1335+31C>G (n.1335+31C>G) c.1332+31C>G (n.1332+31C>G) | dbSNP |
| 16 | g.56879259A= | CA2224353813 | SLC12A3 | c.1335+32A= (n.1335+32A=) c.1332+32A= (n.1332+32A=) | |
| 16 | g.56879259A>C | CA2224353812 | SLC12A3 | c.1335+32A>C (n.1335+32A>C) c.1332+32A>C (n.1332+32A>C) | dbSNP |
| 16 | g.56879259A>G | CA2633379795 | SLC12A3 | c.1335+32A>G (n.1335+32A>G) c.1332+32A>G (n.1332+32A>G) | gnomAD v4 |
| 16 | g.56879259_56879269dup | CA622336420 | SLC12A3 | c.1335+32_1335+42dup (n.1335+32_1335+42dup) c.1332+32_1332+42dup (n.1332+32_1332+42dup) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879260G= | CA2224353814 | SLC12A3 | c.1335+33G= (n.1335+33G=) c.1332+33G= (n.1332+33G=) | |
| 16 | g.56879260G>T | CA8069429 | SLC12A3 | c.1335+33G>T (n.1335+33G>T) c.1332+33G>T (n.1332+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |