| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56870119C>A | CA495602973 | SLC12A3 | c.625C>A (p.Arg209=) c.622C>A (p.Arg208=) | |
| 16 | g.56870119C= | CA2224349275 | SLC12A3 | c.625C= (p.Arg209=) c.622C= (p.Arg208=) | |
| 16 | g.56870119C>G | CA395981572 | SLC12A3 | c.625C>G (p.Arg209Gly) c.622C>G (p.Arg208Gly) | |
| 16 | g.56870119C>T | CA119768 | SLC12A3 | c.625C>T (p.Arg209Trp) c.622C>T (p.Arg208Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870120G>A | CA8069131 | SLC12A3 | c.626G>A (p.Arg209Gln) c.623G>A (p.Arg208Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870120G>C | CA8069132 | SLC12A3 | c.626G>C (p.Arg209Pro) c.623G>C (p.Arg208Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870120G= | CA2224349276 | SLC12A3 | c.626G= (p.Arg209=) c.623G= (p.Arg208=) | |
| 16 | g.56870120G>T | CA395981584 | SLC12A3 | c.626G>T (p.Arg209Leu) c.623G>T (p.Arg208Leu) | |
| 16 | g.56870121G>A | CA495602974 | SLC12A3 | c.627G>A (p.Arg209=) c.624G>A (p.Arg208=) | |
| 16 | g.56870121G>C | CA495602975 | SLC12A3 | c.627G>C (p.Arg209=) c.624G>C (p.Arg208=) | dbSNP gnomAD v4 |
| 16 | g.56870121G= | CA2224349277 | SLC12A3 | c.627G= (p.Arg209=) c.624G= (p.Arg208=) | |
| 16 | g.56870121G>T | CA495602976 | SLC12A3 | c.627G>T (p.Arg209=) c.624G>T (p.Arg208=) | |
| 16 | g.56870122A>C | CA395981589 | SLC12A3 | c.628A>C (p.Ser210Arg) c.625A>C (p.Ser209Arg) | |
| 16 | g.56870122A>G | CA395981593 | SLC12A3 | c.628A>G (p.Ser210Gly) c.625A>G (p.Ser209Gly) | |
| 16 | g.56870122A>T | CA395981596 | SLC12A3 | c.628A>T (p.Ser210Cys) c.625A>T (p.Ser209Cys) | |
| 16 | g.56870123G>A | CA395981608 | SLC12A3 | c.629G>A (p.Ser210Asn) c.626G>A (p.Ser209Asn) | |
| 16 | g.56870123G>C | CA395981605 | SLC12A3 | c.629G>C (p.Ser210Thr) c.626G>C (p.Ser209Thr) | |
| 16 | g.56870123G>T | CA395981603 | SLC12A3 | c.629G>T (p.Ser210Ile) c.626G>T (p.Ser209Ile) | |
| 16 | g.56870124T>A | CA395981612 | SLC12A3 | c.630T>A (p.Ser210Arg) c.627T>A (p.Ser209Arg) | |
| 16 | g.56870124T>C | CA495602977 | SLC12A3 | c.630T>C (p.Ser210=) c.627T>C (p.Ser209=) | |
| 16 | g.56870124T>G | CA395981615 | SLC12A3 | c.630T>G (p.Ser210Arg) c.627T>G (p.Ser209Arg) | |
| 16 | g.56870125C>A | CA395981618 | SLC12A3 | c.631C>A (p.Leu211Met) c.628C>A (p.Leu210Met) | |
| 16 | g.56870125C= | CA2224349278 | SLC12A3 | c.631C= (p.Leu211=) c.628C= (p.Leu210=) | |
| 16 | g.56870125C>G | CA281496760 | SLC12A3 | c.631C>G (p.Leu211Val) c.628C>G (p.Leu210Val) | dbSNP |
| 16 | g.56870125C>T | CA495602978 | SLC12A3 | c.631C>T (p.Leu211=) c.628C>T (p.Leu210=) | |
| 16 | g.56870125_56870127delinsCTG | CA2224349279 | SLC12A3 | c.631_633delinsCTG (p.Leu211=) c.628_630delinsCTG (p.Leu210=) | |
| 16 | g.56870127_56870138del | CA2633371009 | SLC12A3 | c.633_644del (p.Gly212_Leu215del) c.630_641del (p.Gly211_Leu214del) | gnomAD v4 |
| 16 | g.56870126T>A | CA395981627 | SLC12A3 | c.632T>A (p.Leu211Gln) c.629T>A (p.Leu210Gln) | |
| 16 | g.56870126T>C | CA395981629 | SLC12A3 | c.632T>C (p.Leu211Pro) c.629T>C (p.Leu210Pro) | gnomAD v4 |
| 16 | g.56870126T>G | CA395981631 | SLC12A3 | c.632T>G (p.Leu211Arg) c.629T>G (p.Leu210Arg) | |
| 16 | g.56870126_56870127del | CA2224349280 | SLC12A3 | c.632_633del (p.Leu211ArgfsTer?) c.629_630del (p.Leu210ArgfsTer?) | dbSNP |
| 16 | g.56870127G>A | CA495602981 | SLC12A3 | c.633G>A (p.Leu211=) c.630G>A (p.Leu210=) | |
| 16 | g.56870127G>C | CA495602979 | SLC12A3 | c.633G>C (p.Leu211=) c.630G>C (p.Leu210=) | |
| 16 | g.56870127G>T | CA495602980 | SLC12A3 | c.633G>T (p.Leu211=) c.630G>T (p.Leu210=) | |
| 16 | g.56870131_56870145del | CA2633371018 | SLC12A3 | c.637_651del (p.Pro213_Gly217del) c.634_648del (p.Pro212_Gly216del) | gnomAD v4 |
| 16 | g.56870128G>A | CA395981633 | SLC12A3 | c.634G>A (p.Gly212Ser) c.631G>A (p.Gly211Ser) | ClinVar dbSNP |
| 16 | g.56870128G>C | CA395981636 | SLC12A3 | c.634G>C (p.Gly212Arg) c.631G>C (p.Gly211Arg) | gnomAD v4 |
| 16 | g.56870128G= | CA2224349281 | SLC12A3 | c.634G= (p.Gly212=) c.631G= (p.Gly211=) | |
| 16 | g.56870128G>T | CA395981638 | SLC12A3 | c.634G>T (p.Gly212Cys) c.631G>T (p.Gly211Cys) | |
| 16 | g.56870129G>A | CA395981643 | SLC12A3 | c.635G>A (p.Gly212Asp) c.632G>A (p.Gly211Asp) | dbSNP gnomAD v2 |
| 16 | g.56870129G>C | CA395981646 | SLC12A3 | c.635G>C (p.Gly212Ala) c.632G>C (p.Gly211Ala) | gnomAD v4 |
| 16 | g.56870129G= | CA2224349282 | SLC12A3 | c.635G= (p.Gly212=) c.632G= (p.Gly211=) | |
| 16 | g.56870129G>T | CA395981649 | SLC12A3 | c.635G>T (p.Gly212Val) c.632G>T (p.Gly211Val) | ClinVar dbSNP |
| 16 | g.56870130C>A | CA495602983 | SLC12A3 | c.636C>A (p.Gly212=) c.633C>A (p.Gly211=) | |
| 16 | g.56870130C>G | CA495602985 | SLC12A3 | c.636C>G (p.Gly212=) c.633C>G (p.Gly211=) | |
| 16 | g.56870130C>T | CA495602984 | SLC12A3 | c.636C>T (p.Gly212=) c.633C>T (p.Gly211=) | |
| 16 | g.56870131C>A | CA395981661 | SLC12A3 | c.637C>A (p.Pro213Thr) c.634C>A (p.Pro212Thr) | |
| 16 | g.56870131C>G | CA395981654 | SLC12A3 | c.637C>G (p.Pro213Ala) c.634C>G (p.Pro212Ala) | |
| 16 | g.56870131C>T | CA395981658 | SLC12A3 | c.637C>T (p.Pro213Ser) c.634C>T (p.Pro212Ser) |