Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107701974C>A | CA368843665 | SLC26A4 | c.1951C>A (p.Pro651Thr) c.662C>A n.238C>A c.1873C>A (p.Pro625Thr) | |
7 | g.107701974C>G | CA368843667 | SLC26A4 | c.1951C>G (p.Pro651Ala) c.662C>G n.238C>G c.1873C>G (p.Pro625Ala) | |
7 | g.107701974C>T | CA368843666 | SLC26A4 | c.1951C>T (p.Pro651Ser) c.662C>T n.238C>T c.1873C>T (p.Pro625Ser) | gnomAD v4 |
7 | g.107701975C>A | CA368843669 | SLC26A4 | c.1952C>A (p.Pro651His) c.663C>A n.239C>A c.1874C>A (p.Pro625His) | |
7 | g.107701975C>G | CA368843670 | SLC26A4 | c.1952C>G (p.Pro651Arg) c.663C>G n.239C>G c.1874C>G (p.Pro625Arg) | |
7 | g.107701975C>T | CA368843672 | SLC26A4 | c.1952C>T (p.Pro651Leu) c.663C>T n.239C>T c.1874C>T (p.Pro625Leu) | gnomAD v4 |
7 | g.107701976C>A | CA457103346 | SLC26A4 | c.1953C>A (p.Pro651=) c.664C>A n.240C>A c.1875C>A (p.Pro625=) | |
7 | g.107701976C= | CA1732759352 | SLC26A4 | c.1953C= (p.Pro651=) c.664C= n.240C= c.1875C= (p.Pro625=) | |
7 | g.107701976C>G | CA457103343 | SLC26A4 | c.1953C>G (p.Pro651=) c.664C>G n.240C>G c.1875C>G (p.Pro625=) | |
7 | g.107701976C>T | CA457103349 | SLC26A4 | c.1953C>T (p.Pro651=) c.664C>T n.240C>T c.1875C>T (p.Pro625=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701977A>C | CA368843674 | SLC26A4 | c.1954A>C (p.Lys652Gln) c.665A>C n.241A>C c.1876A>C (p.Lys626Gln) | |
7 | g.107701977A>G | CA368843675 | SLC26A4 | c.1954A>G (p.Lys652Glu) c.665A>G n.241A>G c.1876A>G (p.Lys626Glu) | |
7 | g.107701977A>T | CA368843677 | SLC26A4 | c.1954A>T (p.Lys652Ter) c.665A>T n.241A>T c.1876A>T (p.Lys626Ter) | |
7 | g.107701979del | CA2684467835 | SLC26A4 | c.1956del (p.Val653CysfsTer21) c.667del n.243del c.1878del (p.Val627CysfsTer21) | gnomAD v4 |
7 | g.107701978A= | CA1732759355 | SLC26A4 | c.1955A= (p.Lys652=) c.666A= n.242A= c.1877A= (p.Lys626=) | |
7 | g.107701978A>C | CA368843681 | SLC26A4 | c.1955A>C (p.Lys652Thr) c.666A>C n.242A>C c.1877A>C (p.Lys626Thr) | |
7 | g.107701978A>G | CA4432990 | SLC26A4 | c.1955A>G (p.Lys652Arg) c.666A>G n.242A>G c.1877A>G (p.Lys626Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701978A>T | CA368843680 | SLC26A4 | c.1955A>T (p.Lys652Ile) c.666A>T n.242A>T c.1877A>T (p.Lys626Ile) | |
7 | g.107701979A>C | CA368843683 | SLC26A4 | c.1956A>C (p.Lys652Asn) c.667A>C n.243A>C c.1878A>C (p.Lys626Asn) | |
7 | g.107701979A>G | CA457103375 | SLC26A4 | c.1956A>G (p.Lys652=) c.667A>G n.243A>G c.1878A>G (p.Lys626=) | gnomAD v4 |
7 | g.107701979A>T | CA368843684 | SLC26A4 | c.1956A>T (p.Lys652Asn) c.667A>T n.243A>T c.1878A>T (p.Lys626Asn) | COSMIC |
7 | g.107701980G>A | CA368843685 | SLC26A4 | c.1957G>A (p.Val653Met) c.668G>A n.244G>A c.1879G>A (p.Val627Met) | |
7 | g.107701980G>C | CA368843687 | SLC26A4 | c.1957G>C (p.Val653Leu) c.668G>C n.244G>C c.1879G>C (p.Val627Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.107701980G= | CA1732759361 | SLC26A4 | c.1957G= (p.Val653=) c.668G= n.244G= c.1879G= (p.Val627=) | |
7 | g.107701980G>T | CA368843689 | SLC26A4 | c.1957G>T (p.Val653Leu) c.668G>T n.244G>T c.1879G>T (p.Val627Leu) | |
7 | g.107701981T>A | CA368843695 | SLC26A4 | c.1958T>A (p.Val653Glu) c.669T>A n.245T>A c.1880T>A (p.Val627Glu) | |
7 | g.107701981T>C | CA368843691 | SLC26A4 | c.1958T>C (p.Val653Ala) c.669T>C n.245T>C c.1880T>C (p.Val627Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.107701981T>G | CA368843693 | SLC26A4 | c.1958T>G (p.Val653Gly) c.669T>G n.245T>G c.1880T>G (p.Val627Gly) | |
7 | g.107701981T= | CA1732759371 | SLC26A4 | c.1958T= (p.Val653=) c.669T= n.245T= c.1880T= (p.Val627=) | |
7 | g.107701982G>A | CA457103394 | SLC26A4 | c.1959G>A (p.Val653=) c.670G>A n.246G>A c.1881G>A (p.Val627=) | |
7 | g.107701982G>C | CA457103396 | SLC26A4 | c.1959G>C (p.Val653=) c.670G>C n.246G>C c.1881G>C (p.Val627=) | |
7 | g.107701982G>T | CA457103398 | SLC26A4 | c.1959G>T (p.Val653=) c.670G>T n.246G>T c.1881G>T (p.Val627=) | |
7 | g.107701983C>A | CA368843696 | SLC26A4 | c.1960C>A (p.Pro654Thr) c.671C>A n.247C>A c.1882C>A (p.Pro628Thr) | |
7 | g.107701983C= | CA1732759378 | SLC26A4 | c.1960C= (p.Pro654=) c.671C= n.247C= c.1882C= (p.Pro628=) | |
7 | g.107701983C>G | CA368843698 | SLC26A4 | c.1960C>G (p.Pro654Ala) c.671C>G n.247C>G c.1882C>G (p.Pro628Ala) | |
7 | g.107701983C>T | CA368843700 | SLC26A4 | c.1960C>T (p.Pro654Ser) c.671C>T n.247C>T c.1882C>T (p.Pro628Ser) | dbSNP gnomAD v4 |
7 | g.107701984C>A | CA368843702 | SLC26A4 | c.1961C>A (p.Pro654Gln) c.672C>A n.248C>A c.1883C>A (p.Pro628Gln) | |
7 | g.107701984C>G | CA368843703 | SLC26A4 | c.1961C>G (p.Pro654Arg) c.672C>G n.248C>G c.1883C>G (p.Pro628Arg) | |
7 | g.107701984C>T | CA368843705 | SLC26A4 | c.1961C>T (p.Pro654Leu) c.672C>T n.248C>T c.1883C>T (p.Pro628Leu) | gnomAD v4 COSMIC |
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=) |