| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56869671C>A | CA281496588 | SLC12A3 | c.506-58C>A (n.506-58C>A) c.503-58C>A (n.503-58C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869671C= | CA2224349037 | SLC12A3 | c.506-58C= (n.506-58C=) c.503-58C= (n.503-58C=) | |
| 16 | g.56869672A>C | CA2633372504 | SLC12A3 | c.506-57A>C (n.506-57A>C) c.503-57A>C (n.503-57A>C) | gnomAD v4 |
| 16 | g.56869673A= | CA2224349038 | SLC12A3 | c.506-56A= (n.506-56A=) c.503-56A= (n.503-56A=) | |
| 16 | g.56869673A>C | CA2224349039 | SLC12A3 | c.506-56A>C (n.506-56A>C) c.503-56A>C (n.503-56A>C) | dbSNP |
| 16 | g.56869675C>A | CA2576001800 | SLC12A3 | c.506-54C>A (n.506-54C>A) c.503-54C>A (n.503-54C>A) | gnomAD v4 |
| 16 | g.56869680del | CA2633372508 | SLC12A3 | c.506-49del (n.506-49del) c.503-49del (n.503-49del) | gnomAD v4 |
| 16 | g.56869680G>T | CA2576001801 | SLC12A3 | c.506-49G>T (n.506-49G>T) c.503-49G>T (n.503-49G>T) | gnomAD v4 |
| 16 | g.56869681C>A | CA8069071 | SLC12A3 | c.506-48C>A (n.506-48C>A) c.503-48C>A (n.503-48C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869681C= | CA2224349040 | SLC12A3 | c.506-48C= (n.506-48C=) c.503-48C= (n.503-48C=) | |
| 16 | g.56869681C>T | CA8069070 | SLC12A3 | c.506-48C>T (n.506-48C>T) c.503-48C>T (n.503-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869683C>A | CA2576001802 | SLC12A3 | c.506-46C>A (n.506-46C>A) c.503-46C>A (n.503-46C>A) | gnomAD v4 |
| 16 | g.56869683C>G | CA2576001803 | SLC12A3 | c.506-46C>G (n.506-46C>G) c.503-46C>G (n.503-46C>G) | |
| 16 | g.56869685T>A | CA622333561 | SLC12A3 | c.506-44T>A (n.506-44T>A) c.503-44T>A (n.503-44T>A) | dbSNP gnomAD v2 |
| 16 | g.56869685T= | CA2224349041 | SLC12A3 | c.506-44T= (n.506-44T=) c.503-44T= (n.503-44T=) | |
| 16 | g.56869685_56869686delinsTC | CA2224349042 | SLC12A3 | c.506-44_506-43delinsTC (n.506-44_506-43delinsTC) c.503-44_503-43delinsTC (n.503-44_503-43delinsTC) | |
| 16 | g.56869686C>A | CA622333562 | SLC12A3 | c.506-43C>A (n.506-43C>A) c.503-43C>A (n.503-43C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869686C= | CA2224349043 | SLC12A3 | c.506-43C= (n.506-43C=) c.503-43C= (n.503-43C=) | |
| 16 | g.56869686C>G | CA2633372601 | SLC12A3 | c.506-43C>G (n.506-43C>G) c.503-43C>G (n.503-43C>G) | gnomAD v4 |
| 16 | g.56869688del | CA8069072 | SLC12A3 | c.506-41del (n.506-41del) c.503-41del (n.503-41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869687C= | CA2224349044 | SLC12A3 | c.506-42C= (n.506-42C=) c.503-42C= (n.503-42C=) | |
| 16 | g.56869687C>T | CA281496597 | SLC12A3 | c.506-42C>T (n.506-42C>T) c.503-42C>T (n.503-42C>T) | dbSNP gnomAD v2 |
| 16 | g.56869688C>A | CA2633372607 | SLC12A3 | c.506-41C>A (n.506-41C>A) c.503-41C>A (n.503-41C>A) | gnomAD v4 |
| 16 | g.56869688C>T | CA2633372606 | SLC12A3 | c.506-41C>T (n.506-41C>T) c.503-41C>T (n.503-41C>T) | gnomAD v4 |
| 16 | g.56869690T>G | CA8069073 | SLC12A3 | c.506-39T>G (n.506-39T>G) c.503-39T>G (n.503-39T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869690T= | CA2224349045 | SLC12A3 | c.506-39T= (n.506-39T=) c.503-39T= (n.503-39T=) | |
| 16 | g.56869691G>T | CA2576001806 | SLC12A3 | c.506-38G>T (n.506-38G>T) c.503-38G>T (n.503-38G>T) | |
| 16 | g.56869693del | CA2576001805 | SLC12A3 | c.506-36del (n.506-36del) c.503-36del (n.503-36del) | |
| 16 | g.56869692G>A | CA2224349047 | SLC12A3 | c.506-37G>A (n.506-37G>A) c.503-37G>A (n.503-37G>A) | dbSNP |
| 16 | g.56869692G= | CA2224349046 | SLC12A3 | c.506-37G= (n.506-37G=) c.503-37G= (n.503-37G=) | |
| 16 | g.56869693G>A | CA622333563 | SLC12A3 | c.506-36G>A (n.506-36G>A) c.503-36G>A (n.503-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869693G= | CA2224349048 | SLC12A3 | c.506-36G= (n.506-36G=) c.503-36G= (n.503-36G=) | |
| 16 | g.56869693G>T | CA8069074 | SLC12A3 | c.506-36G>T (n.506-36G>T) c.503-36G>T (n.503-36G>T) | dbSNP ExAC |
| 16 | g.56869697T>C | CA2224349050 | SLC12A3 | c.506-32T>C (n.506-32T>C) c.503-32T>C (n.503-32T>C) | dbSNP |
| 16 | g.56869697T= | CA2224349049 | SLC12A3 | c.506-32T= (n.506-32T=) c.503-32T= (n.503-32T=) | |
| 16 | g.56869698G>A | CA722004564 | SLC12A3 | c.506-31G>A (n.506-31G>A) c.503-31G>A (n.503-31G>A) | dbSNP gnomAD v4 |
| 16 | g.56869698G= | CA2224349051 | SLC12A3 | c.506-31G= (n.506-31G=) c.503-31G= (n.503-31G=) | |
| 16 | g.56869699C>A | CA2633372623 | SLC12A3 | c.506-30C>A (n.506-30C>A) c.503-30C>A (n.503-30C>A) | gnomAD v4 |
| 16 | g.56869699C>T | CA656443626 | SLC12A3 | c.506-30C>T (n.506-30C>T) c.503-30C>T (n.503-30C>T) | gnomAD v4 COSMIC |
| 16 | g.56869700C>A | CA2633372631 | SLC12A3 | c.506-29C>A (n.506-29C>A) c.503-29C>A (n.503-29C>A) | gnomAD v4 |
| 16 | g.56869700C= | CA2224349052 | SLC12A3 | c.506-29C= (n.506-29C=) c.503-29C= (n.503-29C=) | |
| 16 | g.56869700C>G | CA8069075 | SLC12A3 | c.506-29C>G (n.506-29C>G) c.503-29C>G (n.503-29C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869700C>T | CA8069076 | SLC12A3 | c.506-29C>T (n.506-29C>T) c.503-29C>T (n.503-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869701C>A | CA2633372641 | SLC12A3 | c.506-28C>A (n.506-28C>A) c.503-28C>A (n.503-28C>A) | gnomAD v4 |
| 16 | g.56869701C= | CA2224349053 | SLC12A3 | c.506-28C= (n.506-28C=) c.503-28C= (n.503-28C=) | |
| 16 | g.56869701C>G | CA2576001809 | SLC12A3 | c.506-28C>G (n.506-28C>G) c.503-28C>G (n.503-28C>G) | |
| 16 | g.56869701C>T | CA8069077 | SLC12A3 | c.506-28C>T (n.506-28C>T) c.503-28C>T (n.503-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869702T>C | CA622333564 | SLC12A3 | c.506-27T>C (n.506-27T>C) c.503-27T>C (n.503-27T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869702T= | CA2224349054 | SLC12A3 | c.506-27T= (n.506-27T=) c.503-27T= (n.503-27T=) | |
| 16 | g.56869703G>A | CA2633372646 | SLC12A3 | c.506-26G>A (n.506-26G>A) c.503-26G>A (n.503-26G>A) | gnomAD v4 |
| 16 | g.56869704C>A | CA2633372648 | SLC12A3 | c.506-25C>A (n.506-25C>A) c.503-25C>A (n.503-25C>A) | gnomAD v4 |
| 16 | g.56869705C>A | CA2224349056 | SLC12A3 | c.506-24C>A (n.506-24C>A) c.503-24C>A (n.503-24C>A) | dbSNP |
| 16 | g.56869705C= | CA2224349055 | SLC12A3 | c.506-24C= (n.506-24C=) c.503-24C= (n.503-24C=) | |
| 16 | g.56869705C>G | CA8069078 | SLC12A3 | c.506-24C>G (n.506-24C>G) c.503-24C>G (n.503-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869705C>T | CA2633372649 | SLC12A3 | c.506-24C>T (n.506-24C>T) c.503-24C>T (n.503-24C>T) | gnomAD v4 |
| 16 | g.56869706T>A | CA8069079 | SLC12A3 | c.506-23T>A (n.506-23T>A) c.503-23T>A (n.503-23T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869706T= | CA2224349057 | SLC12A3 | c.506-23T= (n.506-23T=) c.503-23T= (n.503-23T=) | |
| 16 | g.56869707A= | CA2224349058 | SLC12A3 | c.506-22A= (n.506-22A=) c.503-22A= (n.503-22A=) | |
| 16 | g.56869707A>T | CA2224349059 | SLC12A3 | c.506-22A>T (n.506-22A>T) c.503-22A>T (n.503-22A>T) | dbSNP |
| 16 | g.56869708del | CA2633372655 | SLC12A3 | c.506-21del (n.506-21del) c.503-21del (n.503-21del) | gnomAD v4 |
| 16 | g.56869708A= | CA2224349060 | SLC12A3 | c.506-21A= (n.506-21A=) c.503-21A= (n.503-21A=) | |
| 16 | g.56869708A>T | CA2224349061 | SLC12A3 | c.506-21A>T (n.506-21A>T) c.503-21A>T (n.503-21A>T) | dbSNP |
| 16 | g.56869709G>A | CA281496610 | SLC12A3 | c.506-20G>A (n.506-20G>A) c.503-20G>A (n.503-20G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869709G= | CA2224349062 | SLC12A3 | c.506-20G= (n.506-20G=) c.503-20G= (n.503-20G=) | |
| 16 | g.56869710C>A | CA2633372661 | SLC12A3 | c.506-19C>A (n.506-19C>A) c.503-19C>A (n.503-19C>A) | ClinVar gnomAD v4 |
| 16 | g.56869711T>C | CA2633372663 | SLC12A3 | c.506-18T>C (n.506-18T>C) c.503-18T>C (n.503-18T>C) | gnomAD v4 |
| 16 | g.56869711T>G | CA622333565 | SLC12A3 | c.506-18T>G (n.506-18T>G) c.503-18T>G (n.503-18T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869711T= | CA2224349063 | SLC12A3 | c.506-18T= (n.506-18T=) c.503-18T= (n.503-18T=) | |
| 16 | g.56869715G>A | CA2576001812 | SLC12A3 | c.506-14G>A (n.506-14G>A) c.503-14G>A (n.503-14G>A) | gnomAD v4 |
| 16 | g.56869716G>A | CA656443627 | SLC12A3 | c.506-13G>A (n.506-13G>A) c.503-13G>A (n.503-13G>A) | gnomAD v4 COSMIC |
| 16 | g.56869716G>C | CA2633372668 | SLC12A3 | c.506-13G>C (n.506-13G>C) c.503-13G>C (n.503-13G>C) | gnomAD v4 |
| 16 | g.56869718G>A | CA2633372672 | SLC12A3 | c.506-11G>A (n.506-11G>A) c.503-11G>A (n.503-11G>A) | gnomAD v4 |
| 16 | g.56869718G= | CA2224349064 | SLC12A3 | c.506-11G= (n.506-11G=) c.503-11G= (n.503-11G=) | |
| 16 | g.56869718G>T | CA622333566 | SLC12A3 | c.506-11G>T (n.506-11G>T) c.503-11G>T (n.503-11G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869719C>A | CA2224349066 | SLC12A3 | c.506-10C>A (n.506-10C>A) c.503-10C>A (n.503-10C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869719C= | CA2224349065 | SLC12A3 | c.506-10C= (n.506-10C=) c.503-10C= (n.503-10C=) | |
| 16 | g.56869719C>T | CA2633372684 | SLC12A3 | c.506-10C>T (n.506-10C>T) c.503-10C>T (n.503-10C>T) | gnomAD v4 |
| 16 | g.56869723del | CA2576001815 | SLC12A3 | c.506-6del (n.506-6del) c.503-6del (n.503-6del) | gnomAD v4 |
| 16 | g.56869720C>A | CA2633372690 | SLC12A3 | c.506-9C>A (n.506-9C>A) c.503-9C>A (n.503-9C>A) | gnomAD v4 |
| 16 | g.56869720C= | CA2224349067 | SLC12A3 | c.506-9C= (n.506-9C=) c.503-9C= (n.503-9C=) | |
| 16 | g.56869720C>T | CA2224349068 | SLC12A3 | c.506-9C>T (n.506-9C>T) c.503-9C>T (n.503-9C>T) | dbSNP gnomAD v4 |
| 16 | g.56869721C>A | CA2576001819 | SLC12A3 | c.506-8C>A (n.506-8C>A) c.503-8C>A (n.503-8C>A) | |
| 16 | g.56869721C= | CA2224349069 | SLC12A3 | c.506-8C= (n.506-8C=) c.503-8C= (n.503-8C=) | |
| 16 | g.56869721C>T | CA8069080 | SLC12A3 | c.506-8C>T (n.506-8C>T) c.503-8C>T (n.503-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869722C>T | CA2633372698 | SLC12A3 | c.506-7C>T (n.506-7C>T) c.503-7C>T (n.503-7C>T) | gnomAD v4 |
| 16 | g.56869723C>T | CA2633372700 | SLC12A3 | c.506-6C>T (n.506-6C>T) c.503-6C>T (n.503-6C>T) | gnomAD v4 |
| 16 | g.56869725G>A | CA8069082 | SLC12A3 | c.506-4G>A (n.506-4G>A) c.503-4G>A (n.503-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869725G= | CA2224349071 | SLC12A3 | c.506-4G= (n.506-4G=) c.503-4G= (n.503-4G=) | |
| 16 | g.56869725_56869736delinsGCAGTCCTGACC | CA2224349070 | SLC12A3 | c.506-4_513delinsGCAGTCCTGACC c.503-4_510delinsGCAGTCCTGACC | |
| 16 | g.56869726C= | CA2224349072 | SLC12A3 | c.506-3C= (n.506-3C=) c.503-3C= (n.503-3C=) | |
| 16 | g.56869726C>T | CA8069083 | SLC12A3 | c.506-3C>T (n.506-3C>T) c.503-3C>T (n.503-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869726_56869736del | CA8069081 | SLC12A3 | c.506-3_513del c.503-3_510del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869727A= | CA2224349073 | SLC12A3 | c.506-2A= (n.506-2A=) c.503-2A= (n.503-2A=) | |
| 16 | g.56869727A>C | CA281496620 | SLC12A3 | c.506-2A>C (n.506-2A>C) c.503-2A>C (n.503-2A>C) | dbSNP |
| 16 | g.56869727A>G | CA8069084 | SLC12A3 | c.506-2A>G (n.506-2A>G) c.503-2A>G (n.503-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869727A>T | CA395980698 | SLC12A3 | c.506-2A>T (n.506-2A>T) c.503-2A>T (n.503-2A>T) | |
| 16 | g.56869728G>A | CA8069085 | SLC12A3 | c.506-1G>A (n.506-1G>A) c.503-1G>A (n.503-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869728G>C | CA395980702 | SLC12A3 | c.506-1G>C (n.506-1G>C) c.503-1G>C (n.503-1G>C) | |
| 16 | g.56869728G= | CA2224349074 | SLC12A3 | c.506-1G= (n.506-1G=) c.503-1G= (n.503-1G=) | |
| 16 | g.56869728G>T | CA395980705 | SLC12A3 | c.506-1G>T (n.506-1G>T) c.503-1G>T (n.503-1G>T) | gnomAD v4 |
| 16 | g.56869729T>A | CA395980708 | SLC12A3 | c.506T>A (p.Val169Asp) c.503T>A (p.Val168Asp) | |
| 16 | g.56869729T>C | CA395980711 | SLC12A3 | c.506T>C (p.Val169Ala) c.503T>C (p.Val168Ala) | |
| 16 | g.56869729T>G | CA395980713 | SLC12A3 | c.506T>G (p.Val169Gly) c.503T>G (p.Val168Gly) | |
| 16 | g.56869730C>A | CA495602876 | SLC12A3 | c.507C>A (p.Val169=) c.504C>A (p.Val168=) | ClinVar |
| 16 | g.56869730C= | CA2224349075 | SLC12A3 | c.507C= (p.Val169=) c.504C= (p.Val168=) | |
| 16 | g.56869730C>G | CA495602877 | SLC12A3 | c.507C>G (p.Val169=) c.504C>G (p.Val168=) | |
| 16 | g.56869730C>T | CA495602878 | SLC12A3 | c.507C>T (p.Val169=) c.504C>T (p.Val168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869731C>A | CA395980716 | SLC12A3 | c.508C>A (p.Leu170Met) c.505C>A (p.Leu169Met) | |
| 16 | g.56869731C>G | CA395980719 | SLC12A3 | c.508C>G (p.Leu170Val) c.505C>G (p.Leu169Val) | |
| 16 | g.56869731C>T | CA495602879 | SLC12A3 | c.508C>T (p.Leu170=) c.505C>T (p.Leu169=) | ClinVar gnomAD v4 |
| 16 | g.56869732T>A | CA395980722 | SLC12A3 | c.509T>A (p.Leu170Gln) c.506T>A (p.Leu169Gln) | ClinVar dbSNP |
| 16 | g.56869732T>C | CA395980724 | SLC12A3 | c.509T>C (p.Leu170Pro) c.506T>C (p.Leu169Pro) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869732T>G | CA395980727 | SLC12A3 | c.509T>G (p.Leu170Arg) c.506T>G (p.Leu169Arg) | |
| 16 | g.56869732T= | CA2224349076 | SLC12A3 | c.509T= (p.Leu170=) c.506T= (p.Leu169=) | |
| 16 | g.56869733G>A | CA495602880 | SLC12A3 | c.510G>A (p.Leu170=) c.507G>A (p.Leu169=) | ClinVar gnomAD v4 |
| 16 | g.56869733G>C | CA495602881 | SLC12A3 | c.510G>C (p.Leu170=) c.507G>C (p.Leu169=) | dbSNP gnomAD v2 |
| 16 | g.56869733G= | CA2224349077 | SLC12A3 | c.510G= (p.Leu170=) c.507G= (p.Leu169=) | |
| 16 | g.56869733G>T | CA495602882 | SLC12A3 | c.510G>T (p.Leu170=) c.507G>T (p.Leu169=) | gnomAD v4 |
| 16 | g.56869734A>C | CA395980738 | SLC12A3 | c.511A>C (p.Thr171Pro) c.508A>C (p.Thr170Pro) | |
| 16 | g.56869734A>G | CA395980735 | SLC12A3 | c.511A>G (p.Thr171Ala) c.508A>G (p.Thr170Ala) | |
| 16 | g.56869734A>T | CA395980732 | SLC12A3 | c.511A>T (p.Thr171Ser) c.508A>T (p.Thr170Ser) | |
| 16 | g.56869735C>A | CA395980742 | SLC12A3 | c.512C>A (p.Thr171Asn) c.509C>A (p.Thr170Asn) | ClinVar |
| 16 | g.56869735C>G | CA395980745 | SLC12A3 | c.512C>G (p.Thr171Ser) c.509C>G (p.Thr170Ser) | gnomAD v4 |
| 16 | g.56869735C>T | CA395980746 | SLC12A3 | c.512C>T (p.Thr171Ile) c.509C>T (p.Thr170Ile) | gnomAD v4 |
| 16 | g.56869736C>A | CA495602883 | SLC12A3 | c.513C>A (p.Thr171=) c.510C>A (p.Thr170=) | |
| 16 | g.56869736C>G | CA495602884 | SLC12A3 | c.513C>G (p.Thr171=) c.510C>G (p.Thr170=) | |
| 16 | g.56869736C>T | CA495602885 | SLC12A3 | c.513C>T (p.Thr171=) c.510C>T (p.Thr170=) | |
| 16 | g.56869737T>A | CA395980747 | SLC12A3 | c.514T>A (p.Trp172Arg) c.511T>A (p.Trp171Arg) | gnomAD v4 |
| 16 | g.56869737T>C | CA8069086 | SLC12A3 | c.514T>C (p.Trp172Arg) c.511T>C (p.Trp171Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869737T>G | CA395980748 | SLC12A3 | c.514T>G (p.Trp172Gly) c.511T>G (p.Trp171Gly) | |
| 16 | g.56869737T= | CA2224349078 | SLC12A3 | c.514T= (p.Trp172=) c.511T= (p.Trp171=) | |
| 16 | g.56869738G>A | CA395980750 | SLC12A3 | c.515G>A (p.Trp172Ter) c.512G>A (p.Trp171Ter) | |
| 16 | g.56869738G>C | CA395980752 | SLC12A3 | c.515G>C (p.Trp172Ser) c.512G>C (p.Trp171Ser) | gnomAD v4 |
| 16 | g.56869738G>T | CA395980764 | SLC12A3 | c.515G>T (p.Trp172Leu) c.512G>T (p.Trp171Leu) | |
| 16 | g.56869739G>A | CA395980767 | SLC12A3 | c.516G>A (p.Trp172Ter) c.513G>A (p.Trp171Ter) | COSMIC |
| 16 | g.56869739G>C | CA395980769 | SLC12A3 | c.516G>C (p.Trp172Cys) c.513G>C (p.Trp171Cys) | |
| 16 | g.56869739G>T | CA395980772 | SLC12A3 | c.516G>T (p.Trp172Cys) c.513G>T (p.Trp171Cys) | |
| 16 | g.56869740A>C | CA395980780 | SLC12A3 | c.517A>C (p.Ile173Leu) c.514A>C (p.Ile172Leu) | |
| 16 | g.56869740A>G | CA395980782 | SLC12A3 | c.517A>G (p.Ile173Val) c.514A>G (p.Ile172Val) | |
| 16 | g.56869740A>T | CA395980775 | SLC12A3 | c.517A>T (p.Ile173Phe) c.514A>T (p.Ile172Phe) | |
| 16 | g.56869741T>A | CA395980801 | SLC12A3 | c.518T>A (p.Ile173Asn) c.515T>A (p.Ile172Asn) | |
| 16 | g.56869741T>C | CA395980790 | SLC12A3 | c.518T>C (p.Ile173Thr) c.515T>C (p.Ile172Thr) | |
| 16 | g.56869741T>G | CA395980794 | SLC12A3 | c.518T>G (p.Ile173Ser) c.515T>G (p.Ile172Ser) | |
| 16 | g.56869742C>A | CA8069087 | SLC12A3 | c.519C>A (p.Ile173=) c.516C>A (p.Ile172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869742C= | CA2224349079 | SLC12A3 | c.519C= (p.Ile173=) c.516C= (p.Ile172=) | |
| 16 | g.56869742C>G | CA395980803 | SLC12A3 | c.519C>G (p.Ile173Met) c.516C>G (p.Ile172Met) | |
| 16 | g.56869742C>T | CA495602886 | SLC12A3 | c.519C>T (p.Ile173=) c.516C>T (p.Ile172=) | |
| 16 | g.56869743A>C | CA395980808 | SLC12A3 | c.520A>C (p.Ile174Leu) c.517A>C (p.Ile173Leu) | |
| 16 | g.56869743A>G | CA395980810 | SLC12A3 | c.520A>G (p.Ile174Val) c.517A>G (p.Ile173Val) | gnomAD v4 |
| 16 | g.56869743A>T | CA395980813 | SLC12A3 | c.520A>T (p.Ile174Phe) c.517A>T (p.Ile173Phe) | |
| 16 | g.56869744T>A | CA395980817 | SLC12A3 | c.521T>A (p.Ile174Asn) c.518T>A (p.Ile173Asn) | |
| 16 | g.56869744T>C | CA395980820 | SLC12A3 | c.521T>C (p.Ile174Thr) c.518T>C (p.Ile173Thr) | |
| 16 | g.56869744T>G | CA395980819 | SLC12A3 | c.521T>G (p.Ile174Ser) c.518T>G (p.Ile173Ser) | gnomAD v4 |
| 16 | g.56869745C>A | CA495602887 | SLC12A3 | c.522C>A (p.Ile174=) c.519C>A (p.Ile173=) | |
| 16 | g.56869745C>G | CA395980824 | SLC12A3 | c.522C>G (p.Ile174Met) c.519C>G (p.Ile173Met) | |
| 16 | g.56869745C>T | CA495602888 | SLC12A3 | c.522C>T (p.Ile174=) c.519C>T (p.Ile173=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869746A= | CA2224349080 | SLC12A3 | c.523A= (p.Ile175=) c.520A= (p.Ile174=) | |
| 16 | g.56869746A>C | CA395980829 | SLC12A3 | c.523A>C (p.Ile175Leu) c.520A>C (p.Ile174Leu) | |
| 16 | g.56869746A>G | CA281496629 | SLC12A3 | c.523A>G (p.Ile175Val) c.520A>G (p.Ile174Val) | dbSNP gnomAD v4 |
| 16 | g.56869746A>T | CA395980843 | SLC12A3 | c.523A>T (p.Ile175Phe) c.520A>T (p.Ile174Phe) | |
| 16 | g.56869747T>A | CA395980848 | SLC12A3 | c.524T>A (p.Ile175Asn) c.521T>A (p.Ile174Asn) | |
| 16 | g.56869747T>C | CA395980852 | SLC12A3 | c.524T>C (p.Ile175Thr) c.521T>C (p.Ile174Thr) | dbSNP gnomAD v4 |
| 16 | g.56869747T>G | CA395980850 | SLC12A3 | c.524T>G (p.Ile175Ser) c.521T>G (p.Ile174Ser) | |
| 16 | g.56869747T= | CA2224349081 | SLC12A3 | c.524T= (p.Ile175=) c.521T= (p.Ile174=) | |
| 16 | g.56869748C>A | CA495602889 | SLC12A3 | c.525C>A (p.Ile175=) c.522C>A (p.Ile174=) | dbSNP gnomAD v2 |
| 16 | g.56869748C= | CA2224349082 | SLC12A3 | c.525C= (p.Ile175=) c.522C= (p.Ile174=) | |
| 16 | g.56869748C>G | CA395980854 | SLC12A3 | c.525C>G (p.Ile175Met) c.522C>G (p.Ile174Met) | |
| 16 | g.56869748C>T | CA495602890 | SLC12A3 | c.525C>T (p.Ile175=) c.522C>T (p.Ile174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869749C>A | CA395980857 | SLC12A3 | c.526C>A (p.Leu176Met) c.523C>A (p.Leu175Met) | |
| 16 | g.56869749C= | CA2224349083 | SLC12A3 | c.526C= (p.Leu176=) c.523C= (p.Leu175=) | |
| 16 | g.56869749C>G | CA8069088 | SLC12A3 | c.526C>G (p.Leu176Val) c.523C>G (p.Leu175Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869749C>T | CA495602891 | SLC12A3 | c.526C>T (p.Leu176=) c.523C>T (p.Leu175=) | |
| 16 | g.56869750T>A | CA395980858 | SLC12A3 | c.527T>A (p.Leu176Gln) c.524T>A (p.Leu175Gln) | |
| 16 | g.56869750T>C | CA395980861 | SLC12A3 | c.527T>C (p.Leu176Pro) c.524T>C (p.Leu175Pro) | |
| 16 | g.56869750T>G | CA395980864 | SLC12A3 | c.527T>G (p.Leu176Arg) c.524T>G (p.Leu175Arg) | |
| 16 | g.56869751G>A | CA495602892 | SLC12A3 | c.528G>A (p.Leu176=) c.525G>A (p.Leu175=) | |
| 16 | g.56869751G>C | CA495602894 | SLC12A3 | c.528G>C (p.Leu176=) c.525G>C (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869751G= | CA2224349084 | SLC12A3 | c.528G= (p.Leu176=) c.525G= (p.Leu175=) | |
| 16 | g.56869751G>T | CA495602893 | SLC12A3 | c.528G>T (p.Leu176=) c.525G>T (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869752C>A | CA395980867 | SLC12A3 | c.529C>A (p.Leu177Met) c.526C>A (p.Leu176Met) | |
| 16 | g.56869752C= | CA2224349085 | SLC12A3 | c.529C= (p.Leu177=) c.526C= (p.Leu176=) | |
| 16 | g.56869752C>G | CA395980868 | SLC12A3 | c.529C>G (p.Leu177Val) c.526C>G (p.Leu176Val) | |
| 16 | g.56869752C>T | CA495602895 | SLC12A3 | c.529C>T (p.Leu177=) c.526C>T (p.Leu176=) | dbSNP gnomAD v4 |
| 16 | g.56869753T>A | CA395980869 | SLC12A3 | c.530T>A (p.Leu177Gln) c.527T>A (p.Leu176Gln) | |
| 16 | g.56869753T>C | CA395980870 | SLC12A3 | c.530T>C (p.Leu177Pro) c.527T>C (p.Leu176Pro) | gnomAD v4 |
| 16 | g.56869753T>G | CA395980872 | SLC12A3 | c.530T>G (p.Leu177Arg) c.527T>G (p.Leu176Arg) | |
| 16 | g.56869754G>A | CA495602896 | SLC12A3 | c.531G>A (p.Leu177=) c.528G>A (p.Leu176=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869754G>C | CA495602897 | SLC12A3 | c.531G>C (p.Leu177=) c.528G>C (p.Leu176=) | |
| 16 | g.56869754G>T | CA495602898 | SLC12A3 | c.531G>T (p.Leu177=) c.528G>T (p.Leu176=) | ClinVar gnomAD v4 |
| 16 | g.56869755T>A | CA395980882 | SLC12A3 | c.532T>A (p.Ser178Thr) c.529T>A (p.Ser177Thr) | |
| 16 | g.56869755T>C | CA395980879 | SLC12A3 | c.532T>C (p.Ser178Pro) c.529T>C (p.Ser177Pro) | dbSNP |
| 16 | g.56869755T>G | CA395980874 | SLC12A3 | c.532T>G (p.Ser178Ala) c.529T>G (p.Ser177Ala) | |
| 16 | g.56869755T= | CA2224349086 | SLC12A3 | c.532T= (p.Ser178=) c.529T= (p.Ser177=) | |
| 16 | g.56869756C>A | CA395980883 | SLC12A3 | c.533C>A (p.Ser178Ter) c.530C>A (p.Ser177Ter) | |
| 16 | g.56869756C= | CA2224349087 | SLC12A3 | c.533C= (p.Ser178=) c.530C= (p.Ser177=) | |
| 16 | g.56869756C>G | CA395980884 | SLC12A3 | c.533C>G (p.Ser178Trp) c.530C>G (p.Ser177Trp) | ClinVar gnomAD v4 COSMIC |
| 16 | g.56869756C>T | CA8069089 | SLC12A3 | c.533C>T (p.Ser178Leu) c.530C>T (p.Ser177Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869757G>A | CA8069090 | SLC12A3 | c.534G>A (p.Ser178=) c.531G>A (p.Ser177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56869757G>C | CA495602899 | SLC12A3 | c.534G>C (p.Ser178=) c.531G>C (p.Ser177=) | |
| 16 | g.56869757G= | CA2224349088 | SLC12A3 | c.534G= (p.Ser178=) c.531G= (p.Ser177=) | |
| 16 | g.56869757G>T | CA495602900 | SLC12A3 | c.534G>T (p.Ser178=) c.531G>T (p.Ser177=) | COSMIC |
| 16 | g.56869758G>A | CA395980890 | SLC12A3 | c.535G>A (p.Val179Ile) c.532G>A (p.Val178Ile) | |
| 16 | g.56869758G>C | CA395980893 | SLC12A3 | c.535G>C (p.Val179Leu) c.532G>C (p.Val178Leu) | |
| 16 | g.56869758G>T | CA395980895 | SLC12A3 | c.535G>T (p.Val179Phe) c.532G>T (p.Val178Phe) | |
| 16 | g.56869759T>A | CA395980898 | SLC12A3 | c.536T>A (p.Val179Asp) c.533T>A (p.Val178Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869759T>C | CA395980900 | SLC12A3 | c.536T>C (p.Val179Ala) c.533T>C (p.Val178Ala) | |
| 16 | g.56869759T>G | CA395980903 | SLC12A3 | c.536T>G (p.Val179Gly) c.533T>G (p.Val178Gly) | |
| 16 | g.56869759T= | CA2224349089 | SLC12A3 | c.536T= (p.Val179=) c.533T= (p.Val178=) | |
| 16 | g.56869760C>A | CA495602901 | SLC12A3 | c.537C>A (p.Val179=) c.534C>A (p.Val178=) | |
| 16 | g.56869760C= | CA2224349090 | SLC12A3 | c.537C= (p.Val179=) c.534C= (p.Val178=) | |
| 16 | g.56869760C>G | CA495602902 | SLC12A3 | c.537C>G (p.Val179=) c.534C>G (p.Val178=) | |
| 16 | g.56869760C>T | CA495602903 | SLC12A3 | c.537C>T (p.Val179=) c.534C>T (p.Val178=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56869761A>C | CA395980906 | SLC12A3 | c.538A>C (p.Thr180Pro) c.535A>C (p.Thr179Pro) | |
| 16 | g.56869761A>G | CA395980908 | SLC12A3 | c.538A>G (p.Thr180Ala) c.535A>G (p.Thr179Ala) | |
| 16 | g.56869761A>T | CA395980911 | SLC12A3 | c.538A>T (p.Thr180Ser) c.535A>T (p.Thr179Ser) | ClinVar |
| 16 | g.56869761_56869766delinsACGGTG | CA2224349091 | SLC12A3 | c.538_543delinsACGGTG (p.Thr180=) c.535_540delinsACGGTG (p.Thr179=) | |
| 16 | g.56869762C>A | CA8069091 | SLC12A3 | c.539C>A (p.Thr180Lys) c.536C>A (p.Thr179Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869762C= | CA2224349092 | SLC12A3 | c.539C= (p.Thr180=) c.536C= (p.Thr179=) | |
| 16 | g.56869762C>G | CA8069093 | SLC12A3 | c.539C>G (p.Thr180Arg) c.536C>G (p.Thr179Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869762C>T | CA8069092 | SLC12A3 | c.539C>T (p.Thr180Met) c.536C>T (p.Thr179Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869762_56869766del | CA622333567 | SLC12A3 | c.539_543del (p.Thr180AsnfsTer?) c.536_540del (p.Thr179AsnfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869763G>A | CA281496642 | SLC12A3 | c.540G>A (p.Thr180=) c.537G>A (p.Thr179=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56869763G>C | CA495602904 | SLC12A3 | c.540G>C (p.Thr180=) c.537G>C (p.Thr179=) | |
| 16 | g.56869763G= | CA2224349093 | SLC12A3 | c.540G= (p.Thr180=) c.537G= (p.Thr179=) | |
| 16 | g.56869763G>T | CA495602905 | SLC12A3 | c.540G>T (p.Thr180=) c.537G>T (p.Thr179=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56869764del | CA2633370204 | SLC12A3 | c.541del (p.Val181Ter) c.538del (p.Val180Ter) | gnomAD v4 |
| 16 | g.56869764G>A | CA395980924 | SLC12A3 | c.541G>A (p.Val181Met) c.538G>A (p.Val180Met) | |
| 16 | g.56869764G>C | CA395980926 | SLC12A3 | c.541G>C (p.Val181Leu) c.538G>C (p.Val180Leu) | |
| 16 | g.56869764G= | CA2224349094 | SLC12A3 | c.541G= (p.Val181=) c.538G= (p.Val180=) | |
| 16 | g.56869764G>T | CA8069094 | SLC12A3 | c.541G>T (p.Val181Leu) c.538G>T (p.Val180Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56869765T>A | CA395980931 | SLC12A3 | c.542T>A (p.Val181Glu) c.539T>A (p.Val180Glu) | |
| 16 | g.56869765T>C | CA395980934 | SLC12A3 | c.542T>C (p.Val181Ala) c.539T>C (p.Val180Ala) | |
| 16 | g.56869765T>G | CA395980938 | SLC12A3 | c.542T>G (p.Val181Gly) c.539T>G (p.Val180Gly) | |
| 16 | g.56869766G>A | CA495602906 | SLC12A3 | c.543G>A (p.Val181=) c.540G>A (p.Val180=) | |
| 16 | g.56869766G>C | CA495602907 | SLC12A3 | c.543G>C (p.Val181=) c.540G>C (p.Val180=) | |
| 16 | g.56869766G>T | CA495602908 | SLC12A3 | c.543G>T (p.Val181=) c.540G>T (p.Val180=) | |
| 16 | g.56869767A>C | CA395980941 | SLC12A3 | c.544A>C (p.Thr182Pro) c.541A>C (p.Thr181Pro) | |
| 16 | g.56869767A>G | CA395980942 | SLC12A3 | c.544A>G (p.Thr182Ala) c.541A>G (p.Thr181Ala) | |
| 16 | g.56869767A>T | CA395980944 | SLC12A3 | c.544A>T (p.Thr182Ser) c.541A>T (p.Thr181Ser) | |
| 16 | g.56869768C>A | CA395980945 | SLC12A3 | c.545C>A (p.Thr182Asn) c.542C>A (p.Thr181Asn) | |
| 16 | g.56869768C= | CA2224349095 | SLC12A3 | c.545C= (p.Thr182=) c.542C= (p.Thr181=) | |
| 16 | g.56869768C>G | CA395980946 | SLC12A3 | c.545C>G (p.Thr182Ser) c.542C>G (p.Thr181Ser) | |
| 16 | g.56869768C>T | CA395980947 | SLC12A3 | c.545C>T (p.Thr182Ile) c.542C>T (p.Thr181Ile) | |
| 16 | g.56869769C>A | CA495602909 | SLC12A3 | c.546C>A (p.Thr182=) c.543C>A (p.Thr181=) | |
| 16 | g.56869769C>G | CA495602910 | SLC12A3 | c.546C>G (p.Thr182=) c.543C>G (p.Thr181=) | |
| 16 | g.56869769C>T | CA495602911 | SLC12A3 | c.546C>T (p.Thr182=) c.543C>T (p.Thr181=) | |
| 16 | g.56869770_56869771dup | CA8069095 | SLC12A3 | c.547_548dup (p.Ile184ProfsTer?) c.544_545dup (p.Ile183ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56869770T>A | CA395980955 | SLC12A3 | c.547T>A (p.Ser183Thr) c.544T>A (p.Ser182Thr) | |
| 16 | g.56869770T>C | CA395980957 | SLC12A3 | c.547T>C (p.Ser183Pro) c.544T>C (p.Ser182Pro) | |
| 16 | g.56869770T>G | CA395980950 | SLC12A3 | c.547T>G (p.Ser183Ala) c.544T>G (p.Ser182Ala) | |
| 16 | g.56869772_56869775dup | CA2695223667 | SLC12A3 | c.549_552dup (p.Thr185HisfsTer?) c.546_549dup (p.Thr184HisfsTer?) | |
| 16 | g.56869771C>A | CA395980961 | SLC12A3 | c.548C>A (p.Ser183Tyr) c.545C>A (p.Ser182Tyr) | |
| 16 | g.56869771C= | CA2224349096 | SLC12A3 | c.548C= (p.Ser183=) c.545C= (p.Ser182=) | |
| 16 | g.56869771C>G | CA395980959 | SLC12A3 | c.548C>G (p.Ser183Cys) c.545C>G (p.Ser182Cys) | |
| 16 | g.56869771C>T | CA8069096 | SLC12A3 | c.548C>T (p.Ser183Phe) c.545C>T (p.Ser182Phe) | dbSNP ExAC gnomAD v2 |