| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879150_56879154del | CA495603719 | SLC12A3 | c.1258_1262del (p.Ala420GlnfsTer?) c.1255_1259del (p.Ala419GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879153T>A | CA395985923 | SLC12A3 | c.1261T>A (p.Cys421Ser) c.1258T>A (p.Cys420Ser) | |
| 16 | g.56879153T>C | CA119766 | SLC12A3 | c.1261T>C (p.Cys421Arg) c.1258T>C (p.Cys420Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879153T>G | CA395985927 | SLC12A3 | c.1261T>G (p.Cys421Gly) c.1258T>G (p.Cys420Gly) | ClinVar dbSNP |
| 16 | g.56879153T= | CA2224353762 | SLC12A3 | c.1261T= (p.Cys421=) c.1258T= (p.Cys420=) | |
| 16 | g.56879154G>A | CA8069409 | SLC12A3 | c.1262G>A (p.Cys421Tyr) c.1259G>A (p.Cys420Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879154G>C | CA395985930 | SLC12A3 | c.1262G>C (p.Cys421Ser) c.1259G>C (p.Cys420Ser) | |
| 16 | g.56879154G= | CA2224353763 | SLC12A3 | c.1262G= (p.Cys421=) c.1259G= (p.Cys420=) | |
| 16 | g.56879154G>T | CA395985933 | SLC12A3 | c.1262G>T (p.Cys421Phe) c.1259G>T (p.Cys420Phe) | |
| 16 | g.56879155C>A | CA395985938 | SLC12A3 | c.1263C>A (p.Cys421Ter) c.1260C>A (p.Cys420Ter) | gnomAD v4 |
| 16 | g.56879155C= | CA2224353764 | SLC12A3 | c.1263C= (p.Cys421=) c.1260C= (p.Cys420=) | |
| 16 | g.56879155C>G | CA395985939 | SLC12A3 | c.1263C>G (p.Cys421Trp) c.1260C>G (p.Cys420Trp) | |
| 16 | g.56879155C>T | CA495603726 | SLC12A3 | c.1263C>T (p.Cys421=) c.1260C>T (p.Cys420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879156A>C | CA395985944 | SLC12A3 | c.1264A>C (p.Ser422Arg) c.1261A>C (p.Ser421Arg) | |
| 16 | g.56879156A>G | CA395985946 | SLC12A3 | c.1264A>G (p.Ser422Gly) c.1261A>G (p.Ser421Gly) | |
| 16 | g.56879156A>T | CA395985949 | SLC12A3 | c.1264A>T (p.Ser422Cys) c.1261A>T (p.Ser421Cys) | |
| 16 | g.56879157G>A | CA395985953 | SLC12A3 | c.1265G>A (p.Ser422Asn) c.1262G>A (p.Ser421Asn) | |
| 16 | g.56879157G>C | CA395985956 | SLC12A3 | c.1265G>C (p.Ser422Thr) c.1262G>C (p.Ser421Thr) | |
| 16 | g.56879157G>T | CA395985958 | SLC12A3 | c.1265G>T (p.Ser422Ile) c.1262G>T (p.Ser421Ile) | |
| 16 | g.56879158C>A | CA395985962 | SLC12A3 | c.1266C>A (p.Ser422Arg) c.1263C>A (p.Ser421Arg) | |
| 16 | g.56879158C>G | CA395985965 | SLC12A3 | c.1266C>G (p.Ser422Arg) c.1263C>G (p.Ser421Arg) | gnomAD v4 |
| 16 | g.56879158C>T | CA495603727 | SLC12A3 | c.1266C>T (p.Ser422=) c.1263C>T (p.Ser421=) | |
| 16 | g.56879159T>A | CA395985975 | SLC12A3 | c.1267T>A (p.Tyr423Asn) c.1264T>A (p.Tyr422Asn) | |
| 16 | g.56879159T>C | CA395985972 | SLC12A3 | c.1267T>C (p.Tyr423His) c.1264T>C (p.Tyr422His) | |
| 16 | g.56879159T>G | CA395985969 | SLC12A3 | c.1267T>G (p.Tyr423Asp) c.1264T>G (p.Tyr422Asp) | |
| 16 | g.56879160A= | CA2224353765 | SLC12A3 | c.1268A= (p.Tyr423=) c.1265A= (p.Tyr422=) | |
| 16 | g.56879160A>C | CA395985978 | SLC12A3 | c.1268A>C (p.Tyr423Ser) c.1265A>C (p.Tyr422Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879160A>G | CA395985979 | SLC12A3 | c.1268A>G (p.Tyr423Cys) c.1265A>G (p.Tyr422Cys) | dbSNP |
| 16 | g.56879160A>T | CA395985980 | SLC12A3 | c.1268A>T (p.Tyr423Phe) c.1265A>T (p.Tyr422Phe) | |
| 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) |