Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56879077C>A | CA495603665 | SLC12A3 | c.1185C>A (p.Ser395=) c.1182C>A (p.Ser394=) | |
16 | g.56879077C= | CA2224353727 | SLC12A3 | c.1185C= (p.Ser395=) c.1182C= (p.Ser394=) | |
16 | g.56879077C>G | CA495603666 | SLC12A3 | c.1185C>G (p.Ser395=) c.1182C>G (p.Ser394=) | dbSNP gnomAD v2 |
16 | g.56879077C>T | CA495603667 | SLC12A3 | c.1185C>T (p.Ser395=) c.1182C>T (p.Ser394=) | |
16 | g.56879078T>A | CA395985515 | SLC12A3 | c.1186T>A (p.Cys396Ser) c.1183T>A (p.Cys395Ser) | |
16 | g.56879078T>C | CA395985513 | SLC12A3 | c.1186T>C (p.Cys396Arg) c.1183T>C (p.Cys395Arg) | |
16 | g.56879078T>G | CA395985510 | SLC12A3 | c.1186T>G (p.Cys396Gly) c.1183T>G (p.Cys395Gly) | |
16 | g.56879079G>A | CA395985519 | SLC12A3 | c.1187G>A (p.Cys396Tyr) c.1184G>A (p.Cys395Tyr) | |
16 | g.56879079G>C | CA395985521 | SLC12A3 | c.1187G>C (p.Cys396Ser) c.1184G>C (p.Cys395Ser) | |
16 | g.56879079G>T | CA395985522 | SLC12A3 | c.1187G>T (p.Cys396Phe) c.1184G>T (p.Cys395Phe) | |
16 | g.56879080C>A | CA8069391 | SLC12A3 | c.1188C>A (p.Cys396Ter) c.1185C>A (p.Cys395Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879080C= | CA2224353728 | SLC12A3 | c.1188C= (p.Cys396=) c.1185C= (p.Cys395=) | |
16 | g.56879080C>G | CA395985537 | SLC12A3 | c.1188C>G (p.Cys396Trp) c.1185C>G (p.Cys395Trp) | |
16 | g.56879080C>T | CA281501145 | SLC12A3 | c.1188C>T (p.Cys396=) c.1185C>T (p.Cys395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879081G>A | CA216088 | SLC12A3 | c.1189G>A (p.Val397Met) c.1186G>A (p.Val396Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879081G>C | CA395985542 | SLC12A3 | c.1189G>C (p.Val397Leu) c.1186G>C (p.Val396Leu) | |
16 | g.56879081G= | CA2224353729 | SLC12A3 | c.1189G= (p.Val397=) c.1186G= (p.Val396=) | |
16 | g.56879081G>T | CA8069392 | SLC12A3 | c.1189G>T (p.Val397Leu) c.1186G>T (p.Val396Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879082T>A | CA395985548 | SLC12A3 | c.1190T>A (p.Val397Glu) c.1187T>A (p.Val396Glu) | |
16 | g.56879082T>C | CA395985549 | SLC12A3 | c.1190T>C (p.Val397Ala) c.1187T>C (p.Val396Ala) | |
16 | g.56879082T>G | CA395985553 | SLC12A3 | c.1190T>G (p.Val397Gly) c.1187T>G (p.Val396Gly) | |
16 | g.56879083G>A | CA8069393 | SLC12A3 | c.1191G>A (p.Val397=) c.1188G>A (p.Val396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879083G>C | CA495603670 | SLC12A3 | c.1191G>C (p.Val397=) c.1188G>C (p.Val396=) | |
16 | g.56879083G= | CA2224353730 | SLC12A3 | c.1191G= (p.Val397=) c.1188G= (p.Val396=) | |
16 | g.56879083G>T | CA495603669 | SLC12A3 | c.1191G>T (p.Val397=) c.1188G>T (p.Val396=) | |
16 | g.56879083_56879095del | CA2695223428 | SLC12A3 | c.1191_1203del (p.Val398LeufsTer4) c.1188_1200del (p.Val397LeufsTer4) | |
16 | g.56879084G>A | CA8069395 | SLC12A3 | c.1192G>A (p.Val398Met) c.1189G>A (p.Val397Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879084G>C | CA395985560 | SLC12A3 | c.1192G>C (p.Val398Leu) c.1189G>C (p.Val397Leu) | gnomAD v4 |
16 | g.56879084G= | CA2224353731 | SLC12A3 | c.1192G= (p.Val398=) c.1189G= (p.Val397=) | |
16 | g.56879084G>T | CA395985558 | SLC12A3 | c.1192G>T (p.Val398Leu) c.1189G>T (p.Val397Leu) | |
16 | g.56879085T>A | CA395985572 | SLC12A3 | c.1193T>A (p.Val398Glu) c.1190T>A (p.Val397Glu) | |
16 | g.56879085T>C | CA395985575 | SLC12A3 | c.1193T>C (p.Val398Ala) c.1190T>C (p.Val397Ala) | |
16 | g.56879085T>G | CA395985569 | SLC12A3 | c.1193T>G (p.Val398Gly) c.1190T>G (p.Val397Gly) | |
16 | g.56879088_56879094dup | CA8069394 | SLC12A3 | c.1196_1202dup (p.Ser402Ter) c.1193_1199dup (p.Ser401Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879086G>A | CA495603671 | SLC12A3 | c.1194G>A (p.Val398=) c.1191G>A (p.Val397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879086G>C | CA495603672 | SLC12A3 | c.1194G>C (p.Val398=) c.1191G>C (p.Val397=) | |
16 | g.56879086G= | CA2224353732 | SLC12A3 | c.1194G= (p.Val398=) c.1191G= (p.Val397=) | |
16 | g.56879086G>T | CA495603673 | SLC12A3 | c.1194G>T (p.Val398=) c.1191G>T (p.Val397=) | |
16 | g.56879087C>A | CA395985577 | SLC12A3 | c.1195C>A (p.Arg399Ser) c.1192C>A (p.Arg398Ser) | |
16 | g.56879087C= | CA2224353733 | SLC12A3 | c.1195C= (p.Arg399=) c.1192C= (p.Arg398=) | |
16 | g.56879087C>G | CA395985580 | SLC12A3 | c.1195C>G (p.Arg399Gly) c.1192C>G (p.Arg398Gly) | ClinVar |
16 | g.56879087C>T | CA8069396 | SLC12A3 | c.1195C>T (p.Arg399Cys) c.1192C>T (p.Arg398Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56879087_56879088delinsCG | CA2224353734 | SLC12A3 | c.1195_1196delinsCG (p.Arg399=) c.1192_1193delinsCG (p.Arg398=) | |
16 | g.56879088del | CA977643631 | SLC12A3 | c.1196del (p.Arg399LeufsTer7) c.1193del (p.Arg398LeufsTer7) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879088G>A | CA8069397 | SLC12A3 | c.1196G>A (p.Arg399His) c.1193G>A (p.Arg398His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879088G>C | CA8069398 | SLC12A3 | c.1196G>C (p.Arg399Pro) c.1193G>C (p.Arg398Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879088G= | CA2224353735 | SLC12A3 | c.1196G= (p.Arg399=) c.1193G= (p.Arg398=) | |
16 | g.56879088G>T | CA8069399 | SLC12A3 | c.1196G>T (p.Arg399Leu) c.1193G>T (p.Arg398Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879089T>A | CA495603674 | SLC12A3 | c.1197T>A (p.Arg399=) c.1194T>A (p.Arg398=) | |
16 | g.56879089T>C | CA495603676 | SLC12A3 | c.1197T>C (p.Arg399=) c.1194T>C (p.Arg398=) | gnomAD v4 |