Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56865416_56865425del | CA2580091660 | SLC12A3 | c.181_190del (p.Ile61CysfsTer?) | ClinVar |
16 | g.56865416A= | CA2224346973 | SLC12A3 | c.181A= (p.Ile61=) | |
16 | g.56865416A>C | CA395977109 | SLC12A3 | c.181A>C (p.Ile61Leu) | |
16 | g.56865416A>G | CA8068931 | SLC12A3 | c.181A>G (p.Ile61Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865416A>T | CA395977120 | SLC12A3 | c.181A>T (p.Ile61Phe) | |
16 | g.56865417T>A | CA395977124 | SLC12A3 | c.182T>A (p.Ile61Asn) | |
16 | g.56865417T>C | CA395977133 | SLC12A3 | c.182T>C (p.Ile61Thr) | |
16 | g.56865417T>G | CA395977125 | SLC12A3 | c.182T>G (p.Ile61Ser) | |
16 | g.56865418C>A | CA495787799 | SLC12A3 | c.183C>A (p.Ile61=) | gnomAD v4 |
16 | g.56865418C= | CA2224346974 | SLC12A3 | c.183C= (p.Ile61=) | |
16 | g.56865418C>G | CA281492355 | SLC12A3 | c.183C>G (p.Ile61Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865418C>T | CA495787800 | SLC12A3 | c.183C>T (p.Ile61=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865419G>A | CA395977137 | SLC12A3 | c.184G>A (p.Asp62Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865419G>C | CA8068932 | SLC12A3 | c.184G>C (p.Asp62His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865419G= | CA2224346975 | SLC12A3 | c.184G= (p.Asp62=) | |
16 | g.56865419G>T | CA395977142 | SLC12A3 | c.184G>T (p.Asp62Tyr) | gnomAD v4 |
16 | g.56865420A= | CA2224346976 | SLC12A3 | c.185A= (p.Asp62=) | |
16 | g.56865420A>C | CA395977144 | SLC12A3 | c.185A>C (p.Asp62Ala) | |
16 | g.56865420A>G | CA395977146 | SLC12A3 | c.185A>G (p.Asp62Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.56865420A>T | CA395977145 | SLC12A3 | c.185A>T (p.Asp62Val) | ClinVar |
16 | g.56865421T>A | CA395977150 | SLC12A3 | c.186T>A (p.Asp62Glu) | |
16 | g.56865421T>C | CA495787802 | SLC12A3 | c.186T>C (p.Asp62=) | |
16 | g.56865421T>G | CA395977154 | SLC12A3 | c.186T>G (p.Asp62Glu) | |
16 | g.56865422G>A | CA8068933 | SLC12A3 | c.187G>A (p.Val63Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865422G>C | CA395977165 | SLC12A3 | c.187G>C (p.Val63Leu) | |
16 | g.56865422G= | CA2224346977 | SLC12A3 | c.187G= (p.Val63=) | |
16 | g.56865422G>T | CA395977166 | SLC12A3 | c.187G>T (p.Val63Leu) | |
16 | g.56865425_56865427del | CA2695223509 | SLC12A3 | c.190_192del (p.Val64del) | |
16 | g.56865423T>A | CA395977168 | SLC12A3 | c.188T>A (p.Val63Glu) | |
16 | g.56865423T>C | CA395977170 | SLC12A3 | c.188T>C (p.Val63Ala) | |
16 | g.56865423T>G | CA395977175 | SLC12A3 | c.188T>G (p.Val63Gly) | |
16 | g.56865424G>A | CA495787806 | SLC12A3 | c.189G>A (p.Val63=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865424G>C | CA495787805 | SLC12A3 | c.189G>C (p.Val63=) | |
16 | g.56865424G>T | CA495787804 | SLC12A3 | c.189G>T (p.Val63=) | |
16 | g.56865425G>A | CA395977178 | SLC12A3 | c.190G>A (p.Val64Met) | dbSNP |
16 | g.56865425G>C | CA395977180 | SLC12A3 | c.190G>C (p.Val64Leu) | |
16 | g.56865425G= | CA2224346978 | SLC12A3 | c.190G= (p.Val64=) | |
16 | g.56865425G>T | CA395977182 | SLC12A3 | c.190G>T (p.Val64Leu) | |
16 | g.56865425_56865426insAGA | CA2807159555 | SLC12A3 | c.190_191insAGA (p.Val64delinsGluMet) | |
16 | g.56865426T>A | CA395977187 | SLC12A3 | c.191T>A (p.Val64Glu) | |
16 | g.56865426T>C | CA395977191 | SLC12A3 | c.191T>C (p.Val64Ala) | gnomAD v4 |
16 | g.56865426T>G | CA395977189 | SLC12A3 | c.191T>G (p.Val64Gly) | |
16 | g.56865426_56865427insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTG | CA2807159556 | SLC12A3 | c.191_192insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTG (p.Pro65GlyfsTer15) | |
16 | g.56865427G>A | CA495787808 | SLC12A3 | c.192G>A (p.Val64=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865427G>C | CA495787810 | SLC12A3 | c.192G>C (p.Val64=) | |
16 | g.56865427G= | CA2224346979 | SLC12A3 | c.192G= (p.Val64=) | |
16 | g.56865427G>T | CA495787809 | SLC12A3 | c.192G>T (p.Val64=) | |
16 | g.56865428C>A | CA395977192 | SLC12A3 | c.193C>A (p.Pro65Thr) | |
16 | g.56865428C= | CA2224346980 | SLC12A3 | c.193C= (p.Pro65=) |