Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107701985A>C | CA457103415 | SLC26A4 | c.1962A>C (p.Pro654=) c.673A>C n.249A>C c.1884A>C (p.Pro628=) | |
7 | g.107701985A>G | CA457103418 | SLC26A4 | c.1962A>G (p.Pro654=) c.673A>G n.249A>G c.1884A>G (p.Pro628=) | ClinVar |
7 | g.107701985A>T | CA457103421 | SLC26A4 | c.1962A>T (p.Pro654=) c.673A>T n.249A>T c.1884A>T (p.Pro628=) | |
7 | g.107701986A= | CA1732759383 | SLC26A4 | c.1963A= (p.Ile655=) c.674A= n.250A= c.1885A= (p.Ile629=) | |
7 | g.107701986A>C | CA368843707 | SLC26A4 | c.1963A>C (p.Ile655Leu) c.674A>C n.250A>C c.1885A>C (p.Ile629Leu) | |
7 | g.107701986A>G | CA261421 | SLC26A4 | c.1963A>G (p.Ile655Val) c.674A>G n.250A>G c.1885A>G (p.Ile629Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701986A>T | CA368843709 | SLC26A4 | c.1963A>T (p.Ile655Phe) c.674A>T n.250A>T c.1885A>T (p.Ile629Phe) | |
7 | g.107701987T>A | CA368843711 | SLC26A4 | c.1964T>A (p.Ile655Asn) c.675T>A n.251T>A c.1886T>A (p.Ile629Asn) | |
7 | g.107701987T>C | CA368843713 | SLC26A4 | c.1964T>C (p.Ile655Thr) c.675T>C n.251T>C c.1886T>C (p.Ile629Thr) | |
7 | g.107701987T>G | CA368843715 | SLC26A4 | c.1964T>G (p.Ile655Ser) c.675T>G n.251T>G c.1886T>G (p.Ile629Ser) | |
7 | g.107701987_107701988delinsTC | CA1732759388 | SLC26A4 | c.1964_1965delinsTC (p.Ile655=) c.675_676delinsTC n.251_252delinsTC c.1886_1887delinsTC (p.Ile629=) | |
7 | g.107701988C>A | CA457103439 | SLC26A4 | c.1965C>A (p.Ile655=) c.676C>A n.252C>A c.1887C>A (p.Ile629=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701988C= | CA1732759402 | SLC26A4 | c.1965C= (p.Ile655=) c.676C= n.252C= c.1887C= (p.Ile629=) | |
7 | g.107701988C>G | CA368843716 | SLC26A4 | c.1965C>G (p.Ile655Met) c.676C>G n.252C>G c.1887C>G (p.Ile629Met) | |
7 | g.107701988C>T | CA4432991 | SLC26A4 | c.1965C>T (p.Ile655=) c.676C>T n.252C>T c.1887C>T (p.Ile629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701989del | CA16041116 | SLC26A4 | c.1966del (p.His656IlefsTer18) c.677del n.253del c.1888del (p.His630IlefsTer18) | ClinVar dbSNP |
7 | g.107701989C>A | CA368843722 | SLC26A4 | c.1966C>A (p.His656Asn) c.677C>A n.253C>A c.1888C>A (p.His630Asn) | |
7 | g.107701989C= | CA1732759411 | SLC26A4 | c.1966C= (p.His656=) c.677C= n.253C= c.1888C= (p.His630=) | |
7 | g.107701989C>G | CA164218597 | SLC26A4 | c.1966C>G (p.His656Asp) c.677C>G n.253C>G c.1888C>G (p.His630Asp) | dbSNP |
7 | g.107701989C>T | CA368843721 | SLC26A4 | c.1966C>T (p.His656Tyr) c.677C>T n.253C>T c.1888C>T (p.His630Tyr) | dbSNP |
7 | g.107701990A>C | CA368843724 | SLC26A4 | c.1967A>C (p.His656Pro) c.678A>C n.254A>C c.1889A>C (p.His630Pro) | |
7 | g.107701990A>G | CA368843725 | SLC26A4 | c.1967A>G (p.His656Arg) c.678A>G n.254A>G c.1889A>G (p.His630Arg) | |
7 | g.107701990A>T | CA368843727 | SLC26A4 | c.1967A>T (p.His656Leu) c.678A>T n.254A>T c.1889A>T (p.His630Leu) | |
7 | g.107701991T>A | CA368843729 | SLC26A4 | c.1968T>A (p.His656Gln) c.679T>A n.255T>A c.1890T>A (p.His630Gln) | |
7 | g.107701991T>C | CA457103460 | SLC26A4 | c.1968T>C (p.His656=) c.679T>C n.255T>C c.1890T>C (p.His630=) | gnomAD v4 |
7 | g.107701991T>G | CA368843733 | SLC26A4 | c.1968T>G (p.His656Gln) c.679T>G n.255T>G c.1890T>G (p.His630Gln) | |
7 | g.107701992A= | CA1732759417 | SLC26A4 | c.1969A= (p.Ser657=) c.680A= n.256A= c.1891A= (p.Ser631=) | |
7 | g.107701992A>C | CA368843735 | SLC26A4 | c.1969A>C (p.Ser657Arg) c.680A>C n.256A>C c.1891A>C (p.Ser631Arg) | |
7 | g.107701992A>G | CA368843737 | SLC26A4 | c.1969A>G (p.Ser657Gly) c.680A>G n.256A>G c.1891A>G (p.Ser631Gly) | |
7 | g.107701992A>T | CA10576714 | SLC26A4 | c.1969A>T (p.Ser657Cys) c.680A>T n.256A>T c.1891A>T (p.Ser631Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.107701993G>A | CA368843741 | SLC26A4 | c.1970G>A (p.Ser657Asn) c.681G>A n.257G>A c.1892G>A (p.Ser631Asn) | ClinVar dbSNP |
7 | g.107701993G>C | CA368843740 | SLC26A4 | c.1970G>C (p.Ser657Thr) c.681G>C n.257G>C c.1892G>C (p.Ser631Thr) | |
7 | g.107701993G= | CA1732759424 | SLC26A4 | c.1970G= (p.Ser657=) c.681G= n.257G= c.1892G= (p.Ser631=) | |
7 | g.107701993G>T | CA368843739 | SLC26A4 | c.1970G>T (p.Ser657Ile) c.681G>T n.257G>T c.1892G>T (p.Ser631Ile) | |
7 | g.107701994C>A | CA368843742 | SLC26A4 | c.1971C>A (p.Ser657Arg) c.682C>A n.258C>A c.1893C>A (p.Ser631Arg) | ClinVar dbSNP |
7 | g.107701994C= | CA1732759432 | SLC26A4 | c.1971C= (p.Ser657=) c.682C= n.258C= c.1893C= (p.Ser631=) | |
7 | g.107701994C>G | CA368843743 | SLC26A4 | c.1971C>G (p.Ser657Arg) c.682C>G n.258C>G c.1893C>G (p.Ser631Arg) | |
7 | g.107701994C>T | CA457103480 | SLC26A4 | c.1971C>T (p.Ser657=) c.682C>T n.258C>T c.1893C>T (p.Ser631=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701994_107702000delinsCCTTGTG | CA1732759430 | SLC26A4 | c.1971_1977delinsCCTTGTG (p.Ser657=) c.682_688delinsCCTTGTG n.258_264delinsCCTTGTG c.1893_1899delinsCCTTGTG (p.Ser631=) | |
7 | g.107701995C>A | CA368843744 | SLC26A4 | c.1972C>A (p.Leu658Ile) c.683C>A n.259C>A c.1894C>A (p.Leu632Ile) | dbSNP COSMIC |
7 | g.107701995C= | CA1732759436 | SLC26A4 | c.1972C= (p.Leu658=) c.683C= n.259C= c.1894C= (p.Leu632=) | |
7 | g.107701995C>G | CA368843745 | SLC26A4 | c.1972C>G (p.Leu658Val) c.683C>G n.259C>G c.1894C>G (p.Leu632Val) | |
7 | g.107701995C>T | CA368843746 | SLC26A4 | c.1972C>T (p.Leu658Phe) c.683C>T n.259C>T c.1894C>T (p.Leu632Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701999_107702004del | CA1105621052 | SLC26A4 | c.1976_1981del (p.Val659_Leu660del) c.687_692del n.263_268del c.1898_1903del (p.Val633_Leu634del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701996T>A | CA368843747 | SLC26A4 | c.1973T>A (p.Leu658His) c.684T>A n.260T>A c.1895T>A (p.Leu632His) | |
7 | g.107701996T>C | CA368843748 | SLC26A4 | c.1973T>C (p.Leu658Pro) c.684T>C n.260T>C c.1895T>C (p.Leu632Pro) | dbSNP |
7 | g.107701996T>G | CA368843749 | SLC26A4 | c.1973T>G (p.Leu658Arg) c.684T>G n.260T>G c.1895T>G (p.Leu632Arg) | |
7 | g.107701997T>A | CA457103497 | SLC26A4 | c.1974T>A (p.Leu658=) c.685T>A n.261T>A c.1896T>A (p.Leu632=) | |
7 | g.107701997T>C | CA457103499 | SLC26A4 | c.1974T>C (p.Leu658=) c.685T>C n.261T>C c.1896T>C (p.Leu632=) | |
7 | g.107701997T>G | CA457103501 | SLC26A4 | c.1974T>G (p.Leu658=) c.685T>G n.261T>G c.1896T>G (p.Leu632=) |