Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107701883_107701912dup | CA2573141452 | SLC26A4 | c.1860_1889dup (p.Pro630_Thr631insIleGluAspLeuGluGluLeuAspIlePro) c.571_600dup n.147_176dup c.1782_1811dup (p.Pro604_Thr605insIleGluAspLeuGluGluLeuAspIlePro) | ClinVar dbSNP |
7 | g.107701906A>C | CA368843404 | SLC26A4 | c.1883A>C (p.Asp628Ala) c.594A>C n.170A>C c.1805A>C (p.Asp602Ala) | |
7 | g.107701906A>G | CA368843406 | SLC26A4 | c.1883A>G (p.Asp628Gly) c.594A>G n.170A>G c.1805A>G (p.Asp602Gly) | |
7 | g.107701906A>T | CA368843407 | SLC26A4 | c.1883A>T (p.Asp628Val) c.594A>T n.170A>T c.1805A>T (p.Asp602Val) | |
7 | g.107701907T>A | CA368843409 | SLC26A4 | c.1884T>A (p.Asp628Glu) c.595T>A n.171T>A c.1806T>A (p.Asp602Glu) | |
7 | g.107701907T>C | CA457103241 | SLC26A4 | c.1884T>C (p.Asp628=) c.595T>C n.171T>C c.1806T>C (p.Asp602=) | |
7 | g.107701907T>G | CA368843411 | SLC26A4 | c.1884T>G (p.Asp628Glu) c.595T>G n.171T>G c.1806T>G (p.Asp602Glu) | |
7 | g.107701908A>C | CA368843413 | SLC26A4 | c.1885A>C (p.Ile629Leu) c.596A>C n.172A>C c.1807A>C (p.Ile603Leu) | |
7 | g.107701908A>G | CA368843415 | SLC26A4 | c.1885A>G (p.Ile629Val) c.596A>G n.172A>G c.1807A>G (p.Ile603Val) | |
7 | g.107701908A>T | CA368843414 | SLC26A4 | c.1885A>T (p.Ile629Phe) c.596A>T n.172A>T c.1807A>T (p.Ile603Phe) | |
7 | g.107701909T>A | CA368843417 | SLC26A4 | c.1886T>A (p.Ile629Asn) c.597T>A n.173T>A c.1808T>A (p.Ile603Asn) | |
7 | g.107701909T>C | CA368843419 | SLC26A4 | c.1886T>C (p.Ile629Thr) c.597T>C n.173T>C c.1808T>C (p.Ile603Thr) | |
7 | g.107701909T>G | CA368843420 | SLC26A4 | c.1886T>G (p.Ile629Ser) c.597T>G n.173T>G c.1808T>G (p.Ile603Ser) | |
7 | g.107701910C>A | CA4432973 | SLC26A4 | c.1887C>A (p.Ile629=) c.598C>A n.174C>A c.1809C>A (p.Ile603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701910C= | CA1732759193 | SLC26A4 | c.1887C= (p.Ile629=) c.598C= n.174C= c.1809C= (p.Ile603=) | |
7 | g.107701910C>G | CA368843422 | SLC26A4 | c.1887C>G (p.Ile629Met) c.598C>G n.174C>G c.1809C>G (p.Ile603Met) | |
7 | g.107701910C>T | CA457103242 | SLC26A4 | c.1887C>T (p.Ile629=) c.598C>T n.174C>T c.1809C>T (p.Ile603=) | ClinVar dbSNP |
7 | g.107701911C>A | CA368843423 | SLC26A4 | c.1888C>A (p.Pro630Thr) c.599C>A n.175C>A c.1810C>A (p.Pro604Thr) | |
7 | g.107701911C= | CA1732759197 | SLC26A4 | c.1888C= (p.Pro630=) c.599C= n.175C= c.1810C= (p.Pro604=) | |
7 | g.107701911C>G | CA368843425 | SLC26A4 | c.1888C>G (p.Pro630Ala) c.599C>G n.175C>G c.1810C>G (p.Pro604Ala) | |
7 | g.107701911C>T | CA368843427 | SLC26A4 | c.1888C>T (p.Pro630Ser) c.599C>T n.175C>T c.1810C>T (p.Pro604Ser) | dbSNP gnomAD v4 |
7 | g.107701912C>A | CA368843429 | SLC26A4 | c.1889C>A (p.Pro630Gln) c.600C>A n.176C>A c.1811C>A (p.Pro604Gln) | |
7 | g.107701912C>G | CA368843431 | SLC26A4 | c.1889C>G (p.Pro630Arg) c.600C>G n.176C>G c.1811C>G (p.Pro604Arg) | |
7 | g.107701912C>T | CA368843432 | SLC26A4 | c.1889C>T (p.Pro630Leu) c.600C>T n.176C>T c.1811C>T (p.Pro604Leu) | |
7 | g.107701913A= | CA1732759198 | SLC26A4 | c.1890A= (p.Pro630=) c.601A= n.177A= c.1812A= (p.Pro604=) | |
7 | g.107701913A>C | CA457103245 | SLC26A4 | c.1890A>C (p.Pro630=) c.601A>C n.177A>C c.1812A>C (p.Pro604=) | |
7 | g.107701913A>G | CA457103244 | SLC26A4 | c.1890A>G (p.Pro630=) c.601A>G n.177A>G c.1812A>G (p.Pro604=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701913A>T | CA457103243 | SLC26A4 | c.1890A>T (p.Pro630=) c.601A>T n.177A>T c.1812A>T (p.Pro604=) | |
7 | g.107701914A= | CA1732759199 | SLC26A4 | c.1891A= (p.Thr631=) c.602A= n.178A= c.1813A= (p.Thr605=) | |
7 | g.107701914A>C | CA368843436 | SLC26A4 | c.1891A>C (p.Thr631Pro) c.602A>C n.178A>C c.1813A>C (p.Thr605Pro) | |
7 | g.107701914A>G | CA368843434 | SLC26A4 | c.1891A>G (p.Thr631Ala) c.602A>G n.178A>G c.1813A>G (p.Thr605Ala) | |
7 | g.107701914A>T | CA164218520 | SLC26A4 | c.1891A>T (p.Thr631Ser) c.602A>T n.178A>T c.1813A>T (p.Thr605Ser) | dbSNP |
7 | g.107701915C>A | CA368843438 | SLC26A4 | c.1892C>A (p.Thr631Asn) c.603C>A n.179C>A c.1814C>A (p.Thr605Asn) | |
7 | g.107701915C= | CA1732759200 | SLC26A4 | c.1892C= (p.Thr631=) c.603C= n.179C= c.1814C= (p.Thr605=) | |
7 | g.107701915C>G | CA368843439 | SLC26A4 | c.1892C>G (p.Thr631Ser) c.603C>G n.179C>G c.1814C>G (p.Thr605Ser) | |
7 | g.107701915C>T | CA4432974 | SLC26A4 | c.1892C>T (p.Thr631Ile) c.603C>T n.179C>T c.1814C>T (p.Thr605Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701916C>A | CA4432975 | SLC26A4 | c.1893C>A (p.Thr631=) c.604C>A n.180C>A c.1815C>A (p.Thr605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701916C= | CA1732759201 | SLC26A4 | c.1893C= (p.Thr631=) c.604C= n.180C= c.1815C= (p.Thr605=) | |
7 | g.107701916C>G | CA457103247 | SLC26A4 | c.1893C>G (p.Thr631=) c.604C>G n.180C>G c.1815C>G (p.Thr605=) | COSMIC |
7 | g.107701916C>T | CA457103246 | SLC26A4 | c.1893C>T (p.Thr631=) c.604C>T n.180C>T c.1815C>T (p.Thr605=) | |
7 | g.107701917A>C | CA368843442 | SLC26A4 | c.1894A>C (p.Lys632Gln) c.605A>C n.181A>C c.1816A>C (p.Lys606Gln) | |
7 | g.107701917A>G | CA368843443 | SLC26A4 | c.1894A>G (p.Lys632Glu) c.605A>G n.181A>G c.1816A>G (p.Lys606Glu) | gnomAD v4 |
7 | g.107701917A>T | CA368843446 | SLC26A4 | c.1894A>T (p.Lys632Ter) c.605A>T n.181A>T c.1816A>T (p.Lys606Ter) | |
7 | g.107701918A>C | CA368843447 | SLC26A4 | c.1895A>C (p.Lys632Thr) c.606A>C n.182A>C c.1817A>C (p.Lys606Thr) | |
7 | g.107701918A>G | CA368843449 | SLC26A4 | c.1895A>G (p.Lys632Arg) c.606A>G n.182A>G c.1817A>G (p.Lys606Arg) | |
7 | g.107701918A>T | CA368843451 | SLC26A4 | c.1895A>T (p.Lys632Met) c.606A>T n.182A>T c.1817A>T (p.Lys606Met) | |
7 | g.107701919G>A | CA4432976 | SLC26A4 | c.1896G>A (p.Lys632=) c.607G>A n.183G>A c.1818G>A (p.Lys606=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701919G>C | CA368843453 | SLC26A4 | c.1896G>C (p.Lys632Asn) c.607G>C n.183G>C c.1818G>C (p.Lys606Asn) | |
7 | g.107701919G= | CA1732759203 | SLC26A4 | c.1896G= (p.Lys632=) c.607G= n.183G= c.1818G= (p.Lys606=) | |
7 | g.107701919G>T | CA368843454 | SLC26A4 | c.1896G>T (p.Lys632Asn) c.607G>T n.183G>T c.1818G>T (p.Lys606Asn) | |
7 | g.107701920G>A | CA368843459 | SLC26A4 | c.1897G>A (p.Glu633Lys) c.608G>A n.184G>A c.1819G>A (p.Glu607Lys) | dbSNP COSMIC |
7 | g.107701920G>C | CA368843460 | SLC26A4 | c.1897G>C (p.Glu633Gln) c.608G>C n.184G>C c.1819G>C (p.Glu607Gln) | |
7 | g.107701920G= | CA1732759207 | SLC26A4 | c.1897G= (p.Glu633=) c.608G= n.184G= c.1819G= (p.Glu607=) | |
7 | g.107701920G>T | CA368843457 | SLC26A4 | c.1897G>T (p.Glu633Ter) c.608G>T n.184G>T c.1819G>T (p.Glu607Ter) | |
7 | g.107701921A>C | CA368843464 | SLC26A4 | c.1898A>C (p.Glu633Ala) c.609A>C n.185A>C c.1820A>C (p.Glu607Ala) | |
7 | g.107701921A>G | CA368843462 | SLC26A4 | c.1898A>G (p.Glu633Gly) c.609A>G n.185A>G c.1820A>G (p.Glu607Gly) | |
7 | g.107701921A>T | CA368843466 | SLC26A4 | c.1898A>T (p.Glu633Val) c.609A>T n.185A>T c.1820A>T (p.Glu607Val) | COSMIC |
7 | g.107701923del | CA2695208266 | SLC26A4 | c.1900del (p.Ile634Ter) c.611del n.187del c.1822del (p.Ile608Ter) | |
7 | g.107701922A>C | CA368843467 | SLC26A4 | c.1899A>C (p.Glu633Asp) c.610A>C n.186A>C c.1821A>C (p.Glu607Asp) | |
7 | g.107701922A>G | CA457103248 | SLC26A4 | c.1899A>G (p.Glu633=) c.610A>G n.186A>G c.1821A>G (p.Glu607=) | |
7 | g.107701922A>T | CA368843469 | SLC26A4 | c.1899A>T (p.Glu633Asp) c.610A>T n.186A>T c.1821A>T (p.Glu607Asp) | |
7 | g.107701923A>C | CA368843471 | SLC26A4 | c.1900A>C (p.Ile634Leu) c.611A>C n.187A>C c.1822A>C (p.Ile608Leu) | |
7 | g.107701923A>G | CA368843472 | SLC26A4 | c.1900A>G (p.Ile634Val) c.611A>G n.187A>G c.1822A>G (p.Ile608Val) | |
7 | g.107701923A>T | CA368843473 | SLC26A4 | c.1900A>T (p.Ile634Leu) c.611A>T n.187A>T c.1822A>T (p.Ile608Leu) | |
7 | g.107701924T>A | CA368843475 | SLC26A4 | c.1901T>A (p.Ile634Lys) c.612T>A n.188T>A c.1823T>A (p.Ile608Lys) | |
7 | g.107701924T>C | CA4432977 | SLC26A4 | c.1901T>C (p.Ile634Thr) c.612T>C n.188T>C c.1823T>C (p.Ile608Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701924T>G | CA368843478 | SLC26A4 | c.1901T>G (p.Ile634Arg) c.612T>G n.188T>G c.1823T>G (p.Ile608Arg) | |
7 | g.107701924T= | CA1732759210 | SLC26A4 | c.1901T= (p.Ile634=) c.612T= n.188T= c.1823T= (p.Ile608=) | |
7 | g.107701924_107701926delinsTAG | CA1732759212 | SLC26A4 | c.1901_1903delinsTAG (p.Ile634=) c.612_614delinsTAG n.188_190delinsTAG c.1823_1825delinsTAG (p.Ile608=) | |
7 | g.107701925A= | CA1732759220 | SLC26A4 | c.1902A= (p.Ile634=) c.613A= n.189A= c.1824A= (p.Ile608=) | |
7 | g.107701925A>C | CA457103249 | SLC26A4 | c.1902A>C (p.Ile634=) c.613A>C n.189A>C c.1824A>C (p.Ile608=) | gnomAD v4 |
7 | g.107701925A>G | CA4432979 | SLC26A4 | c.1902A>G (p.Ile634Met) c.613A>G n.189A>G c.1824A>G (p.Ile608Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701925A>T | CA457103250 | SLC26A4 | c.1902A>T (p.Ile634=) c.613A>T n.189A>T c.1824A>T (p.Ile608=) | |
7 | g.107701925dup | CA457103251 | SLC26A4 | c.1902dup (p.Glu635ArgfsTer9) c.613dup n.189dup c.1824dup (p.Glu609ArgfsTer9) | |
7 | g.107701928_107701929del | CA4432978 | SLC26A4 | c.1905_1906del (p.Glu635AspfsTer8) c.616_617del n.192_193del c.1827_1828del (p.Glu609AspfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701926G>A | CA368843481 | SLC26A4 | c.1903G>A (p.Glu635Lys) c.614G>A n.190G>A c.1825G>A (p.Glu609Lys) | |
7 | g.107701926G>C | CA368843483 | SLC26A4 | c.1903G>C (p.Glu635Gln) c.614G>C n.190G>C c.1825G>C (p.Glu609Gln) | |
7 | g.107701926G>T | CA368843485 | SLC26A4 | c.1903G>T (p.Glu635Ter) c.614G>T n.190G>T c.1825G>T (p.Glu609Ter) | |
7 | g.107701927A>C | CA368843489 | SLC26A4 | c.1904A>C (p.Glu635Ala) c.615A>C n.191A>C c.1826A>C (p.Glu609Ala) | |
7 | g.107701927A>G | CA368843487 | SLC26A4 | c.1904A>G (p.Glu635Gly) c.615A>G n.191A>G c.1826A>G (p.Glu609Gly) | |
7 | g.107701927A>T | CA368843486 | SLC26A4 | c.1904A>T (p.Glu635Val) c.615A>T n.191A>T c.1826A>T (p.Glu609Val) | |
7 | g.107701928G>A | CA4432980 | SLC26A4 | c.1905G>A (p.Glu635=) c.616G>A n.192G>A c.1827G>A (p.Glu609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701928G>C | CA368843492 | SLC26A4 | c.1905G>C (p.Glu635Asp) c.616G>C n.192G>C c.1827G>C (p.Glu609Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701928G= | CA1732759228 | SLC26A4 | c.1905G= (p.Glu635=) c.616G= n.192G= c.1827G= (p.Glu609=) | |
7 | g.107701928G>T | CA368843494 | SLC26A4 | c.1905G>T (p.Glu635Asp) c.616G>T n.192G>T c.1827G>T (p.Glu609Asp) | |
7 | g.107701929A= | CA1732759233 | SLC26A4 | c.1906A= (p.Ile636=) c.617A= n.193A= c.1828A= (p.Ile610=) | |
7 | g.107701929A>C | CA368843496 | SLC26A4 | c.1906A>C (p.Ile636Leu) c.617A>C n.193A>C c.1828A>C (p.Ile610Leu) | |
7 | g.107701929A>G | CA4432981 | SLC26A4 | c.1906A>G (p.Ile636Val) c.617A>G n.193A>G c.1828A>G (p.Ile610Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701929A>T | CA368843498 | SLC26A4 | c.1906A>T (p.Ile636Phe) c.617A>T n.193A>T c.1828A>T (p.Ile610Phe) | |
7 | g.107701930T>A | CA368843500 | SLC26A4 | c.1907T>A (p.Ile636Asn) c.618T>A n.194T>A c.1829T>A (p.Ile610Asn) | |
7 | g.107701930T>C | CA368843502 | SLC26A4 | c.1907T>C (p.Ile636Thr) c.618T>C n.194T>C c.1829T>C (p.Ile610Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701930T>G | CA368843503 | SLC26A4 | c.1907T>G (p.Ile636Ser) c.618T>G n.194T>G c.1829T>G (p.Ile610Ser) | gnomAD v4 |
7 | g.107701930T= | CA1732759239 | SLC26A4 | c.1907T= (p.Ile636=) c.618T= n.194T= c.1829T= (p.Ile610=) | |
7 | g.107701931T>A | CA457103252 | SLC26A4 | c.1908T>A (p.Ile636=) c.619T>A n.195T>A c.1830T>A (p.Ile610=) | gnomAD v4 |
7 | g.107701931T>C | CA457103253 | SLC26A4 | c.1908T>C (p.Ile636=) c.619T>C n.195T>C c.1830T>C (p.Ile610=) | |
7 | g.107701931T>G | CA368843505 | SLC26A4 | c.1908T>G (p.Ile636Met) c.619T>G n.195T>G c.1830T>G (p.Ile610Met) | |
7 | g.107701932C>A | CA4432982 | SLC26A4 | c.1909C>A (p.Gln637Lys) c.620C>A n.196C>A c.1831C>A (p.Gln611Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701932C= | CA1732759243 | SLC26A4 | c.1909C= (p.Gln637=) c.620C= n.196C= c.1831C= (p.Gln611=) | |
7 | g.107701932C>G | CA368843508 | SLC26A4 | c.1909C>G (p.Gln637Glu) c.620C>G n.196C>G c.1831C>G (p.Gln611Glu) | |
7 | g.107701932C>T | CA368843510 | SLC26A4 | c.1909C>T (p.Gln637Ter) c.620C>T n.196C>T c.1831C>T (p.Gln611Ter) | |
7 | g.107701933A>C | CA368843514 | SLC26A4 | c.1910A>C (p.Gln637Pro) c.621A>C n.197A>C c.1832A>C (p.Gln611Pro) | |
7 | g.107701933A>G | CA368843513 | SLC26A4 | c.1910A>G (p.Gln637Arg) c.621A>G n.197A>G c.1832A>G (p.Gln611Arg) | |
7 | g.107701933A>T | CA368843511 | SLC26A4 | c.1910A>T (p.Gln637Leu) c.621A>T n.197A>T c.1832A>T (p.Gln611Leu) | |
7 | g.107701934A>C | CA368843518 | SLC26A4 | c.1911A>C (p.Gln637His) c.622A>C n.198A>C c.1833A>C (p.Gln611His) | |
7 | g.107701934A>G | CA457103254 | SLC26A4 | c.1911A>G (p.Gln637=) c.622A>G n.198A>G c.1833A>G (p.Gln611=) | |
7 | g.107701934A>T | CA368843516 | SLC26A4 | c.1911A>T (p.Gln637His) c.622A>T n.198A>T c.1833A>T (p.Gln611His) | |
7 | g.107701935G>A | CA368843520 | SLC26A4 | c.1912G>A (p.Val638Met) c.623G>A n.199G>A c.1834G>A (p.Val612Met) | |
7 | g.107701935G>C | CA368843522 | SLC26A4 | c.1912G>C (p.Val638Leu) c.623G>C n.199G>C c.1834G>C (p.Val612Leu) | |
7 | g.107701935G>T | CA368843524 | SLC26A4 | c.1912G>T (p.Val638Leu) c.623G>T n.199G>T c.1834G>T (p.Val612Leu) | |
7 | g.107701936T>A | CA368843525 | SLC26A4 | c.1913T>A (p.Val638Glu) c.624T>A n.200T>A c.1835T>A (p.Val612Glu) | |
7 | g.107701936T>C | CA368843527 | SLC26A4 | c.1913T>C (p.Val638Ala) c.624T>C n.200T>C c.1835T>C (p.Val612Ala) | |
7 | g.107701936T>G | CA368843529 | SLC26A4 | c.1913T>G (p.Val638Gly) c.624T>G n.200T>G c.1835T>G (p.Val612Gly) | |
7 | g.107701937G>A | CA457103257 | SLC26A4 | c.1914G>A (p.Val638=) c.625G>A n.201G>A c.1836G>A (p.Val612=) | |
7 | g.107701937G>C | CA457103256 | SLC26A4 | c.1914G>C (p.Val638=) c.625G>C n.201G>C c.1836G>C (p.Val612=) | |
7 | g.107701937G>T | CA457103255 | SLC26A4 | c.1914G>T (p.Val638=) c.625G>T n.201G>T c.1836G>T (p.Val612=) | |
7 | g.107701938G>A | CA368843531 | SLC26A4 | c.1915G>A (p.Asp639Asn) c.626G>A n.202G>A c.1837G>A (p.Asp613Asn) | |
7 | g.107701938G>C | CA4432983 | SLC26A4 | c.1915G>C (p.Asp639His) c.626G>C n.202G>C c.1837G>C (p.Asp613His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701938G= | CA1732759250 | SLC26A4 | c.1915G= (p.Asp639=) c.626G= n.202G= c.1837G= (p.Asp613=) | |
7 | g.107701938G>T | CA4432984 | SLC26A4 | c.1915G>T (p.Asp639Tyr) c.626G>T n.202G>T c.1837G>T (p.Asp613Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701939A>C | CA368843534 | SLC26A4 | c.1916A>C (p.Asp639Ala) c.627A>C n.203A>C c.1838A>C (p.Asp613Ala) | |
7 | g.107701939A>G | CA368843535 | SLC26A4 | c.1916A>G (p.Asp639Gly) c.627A>G n.203A>G c.1838A>G (p.Asp613Gly) | dbSNP |
7 | g.107701939A>T | CA368843537 | SLC26A4 | c.1916A>T (p.Asp639Val) c.627A>T n.203A>T c.1838A>T (p.Asp613Val) | |
7 | g.107701940T>A | CA368843540 | SLC26A4 | c.1917T>A (p.Asp639Glu) c.628T>A n.204T>A c.1839T>A (p.Asp613Glu) | |
7 | g.107701940T>C | CA4432985 | SLC26A4 | c.1917T>C (p.Asp639=) c.628T>C n.204T>C c.1839T>C (p.Asp613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107701940T>G | CA368843539 | SLC26A4 | c.1917T>G (p.Asp639Glu) c.628T>G n.204T>G c.1839T>G (p.Asp613Glu) | |
7 | g.107701940T= | CA1732759255 | SLC26A4 | c.1917T= (p.Asp639=) c.628T= n.204T= c.1839T= (p.Asp613=) | |
7 | g.107701941T>A | CA368843542 | SLC26A4 | c.1918T>A (p.Trp640Arg) c.629T>A n.205T>A c.1840T>A (p.Trp614Arg) | |
7 | g.107701941T>C | CA164218559 | SLC26A4 | c.1918T>C (p.Trp640Arg) c.629T>C n.205T>C c.1840T>C (p.Trp614Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701941T>G | CA368843544 | SLC26A4 | c.1918T>G (p.Trp640Gly) c.629T>G n.205T>G c.1840T>G (p.Trp614Gly) | gnomAD v4 |
7 | g.107701941T= | CA1732759259 | SLC26A4 | c.1918T= (p.Trp640=) c.629T= n.205T= c.1840T= (p.Trp614=) | |
7 | g.107701942G>A | CA274015 | SLC26A4 | c.1919G>A (p.Trp640Ter) c.630G>A n.206G>A c.1841G>A (p.Trp614Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.107701942G>C | CA368843547 | SLC26A4 | c.1919G>C (p.Trp640Ser) c.630G>C n.206G>C c.1841G>C (p.Trp614Ser) | |
7 | g.107701942G= | CA1732759266 | SLC26A4 | c.1919G= (p.Trp640=) c.630G= n.206G= c.1841G= (p.Trp614=) | |
7 | g.107701942G>T | CA368843549 | SLC26A4 | c.1919G>T (p.Trp640Leu) c.630G>T n.206G>T c.1841G>T (p.Trp614Leu) | dbSNP gnomAD v4 |
7 | g.107701943G>A | CA274264 | SLC26A4 | c.1920G>A (p.Trp640Ter) c.631G>A n.207G>A c.1842G>A (p.Trp614Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701943G>C | CA4432986 | SLC26A4 | c.1920G>C (p.Trp640Cys) c.631G>C n.207G>C c.1842G>C (p.Trp614Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701943G= | CA1732759280 | SLC26A4 | c.1920G= (p.Trp640=) c.631G= n.207G= c.1842G= (p.Trp614=) | |
7 | g.107701943G>T | CA368843552 | SLC26A4 | c.1920G>T (p.Trp640Cys) c.631G>T n.207G>T c.1842G>T (p.Trp614Cys) | dbSNP |
7 | g.107701943_107701944delinsGA | CA1732759278 | SLC26A4 | c.1920_1921delinsGA (p.Trp640=) c.631_632delinsGA n.207_208delinsGA c.1842_1843delinsGA (p.Trp614=) | |
7 | g.107701944A>C | CA368843554 | SLC26A4 | c.1921A>C (p.Asn641His) c.632A>C n.208A>C c.1843A>C (p.Asn615His) | |
7 | g.107701944A>G | CA368843556 | SLC26A4 | c.1921A>G (p.Asn641Asp) c.632A>G n.208A>G c.1843A>G (p.Asn615Asp) | |
7 | g.107701944A>T | CA368843558 | SLC26A4 | c.1921A>T (p.Asn641Tyr) c.632A>T n.208A>T c.1843A>T (p.Asn615Tyr) | |
7 | g.107701945del | CA915945414 | SLC26A4 | c.1922del (p.Asn641ThrfsTer8) c.633del n.209del c.1844del (p.Asn615ThrfsTer8) | ClinVar dbSNP |
7 | g.107701945A= | CA1732759293 | SLC26A4 | c.1922A= (p.Asn641=) c.633A= n.209A= c.1844A= (p.Asn615=) | |
7 | g.107701945A>C | CA368843563 | SLC26A4 | c.1922A>C (p.Asn641Thr) c.633A>C n.209A>C c.1844A>C (p.Asn615Thr) | |
7 | g.107701945A>G | CA4432987 | SLC26A4 | c.1922A>G (p.Asn641Ser) c.633A>G n.209A>G c.1844A>G (p.Asn615Ser) | dbSNP ExAC gnomAD v2 |
7 | g.107701945A>T | CA368843560 | SLC26A4 | c.1922A>T (p.Asn641Ile) c.633A>T n.209A>T c.1844A>T (p.Asn615Ile) | |
7 | g.107701946C>A | CA368843564 | SLC26A4 | c.1923C>A (p.Asn641Lys) c.634C>A n.210C>A c.1845C>A (p.Asn615Lys) | |
7 | g.107701946C= | CA1732759299 | SLC26A4 | c.1923C= (p.Asn641=) c.634C= n.210C= c.1845C= (p.Asn615=) | |
7 | g.107701946C>G | CA368843566 | SLC26A4 | c.1923C>G (p.Asn641Lys) c.634C>G n.210C>G c.1845C>G (p.Asn615Lys) | |
7 | g.107701946C>T | CA457103258 | SLC26A4 | c.1923C>T (p.Asn641=) c.634C>T n.210C>T c.1845C>T (p.Asn615=) | ClinVar dbSNP gnomAD v4 |
7 | g.107701947T>A | CA368843567 | SLC26A4 | c.1924T>A (p.Ser642Thr) c.635T>A n.211T>A c.1846T>A (p.Ser616Thr) | |
7 | g.107701947T>C | CA132685 | SLC26A4 | c.1924T>C (p.Ser642Pro) c.635T>C n.211T>C c.1846T>C (p.Ser616Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701947T>G | CA368843570 | SLC26A4 | c.1924T>G (p.Ser642Ala) c.635T>G n.211T>G c.1846T>G (p.Ser616Ala) | |
7 | g.107701947T= | CA1732759305 | SLC26A4 | c.1924T= (p.Ser642=) c.635T= n.211T= c.1846T= (p.Ser616=) | |
7 | g.107701947_107701948insTTGAAGAT | CA2684467832 | SLC26A4 | c.1924_1925insTTGAAGAT (p.Ser642PhefsTer10) c.635_636insTTGAAGAT n.211_212insTTGAAGAT c.1846_1847insTTGAAGAT (p.Ser616PhefsTer10) | gnomAD v4 |
7 | g.107701948C>A | CA368843571 | SLC26A4 | c.1925C>A (p.Ser642Tyr) c.636C>A n.212C>A c.1847C>A (p.Ser616Tyr) | COSMIC |
7 | g.107701948C>G | CA368843573 | SLC26A4 | c.1925C>G (p.Ser642Cys) c.636C>G n.212C>G c.1847C>G (p.Ser616Cys) | |
7 | g.107701948C>T | CA368843575 | SLC26A4 | c.1925C>T (p.Ser642Phe) c.636C>T n.212C>T c.1847C>T (p.Ser616Phe) | |
7 | g.107701949T>A | CA457103259 | SLC26A4 | c.1926T>A (p.Ser642=) c.637T>A n.213T>A c.1848T>A (p.Ser616=) | |
7 | g.107701949T>C | CA457103260 | SLC26A4 | c.1926T>C (p.Ser642=) c.637T>C n.213T>C c.1848T>C (p.Ser616=) | |
7 | g.107701949T>G | CA457103261 | SLC26A4 | c.1926T>G (p.Ser642=) c.637T>G n.213T>G c.1848T>G (p.Ser616=) | ClinVar gnomAD v4 |
7 | g.107701950G>A | CA368843577 | SLC26A4 | c.1927G>A (p.Glu643Lys) c.638G>A n.214G>A c.1849G>A (p.Glu617Lys) | gnomAD v4 |
7 | g.107701950G>C | CA368843578 | SLC26A4 | c.1927G>C (p.Glu643Gln) c.638G>C n.214G>C c.1849G>C (p.Glu617Gln) | COSMIC COSMIC |
7 | g.107701950G>T | CA368843580 | SLC26A4 | c.1927G>T (p.Glu643Ter) c.638G>T n.214G>T c.1849G>T (p.Glu617Ter) | |
7 | g.107701950_107701951insGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG | CA2684467833 | SLC26A4 | c.1927_1928insGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG (p.Glu643GlyfsTer4) c.638_639insGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG n.214_215insGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG c.1849_1850insGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG (p.Glu617GlyfsTer4) | gnomAD v4 |
7 | g.107701951A>C | CA368843582 | SLC26A4 | c.1928A>C (p.Glu643Ala) c.639A>C n.215A>C c.1850A>C (p.Glu617Ala) | gnomAD v4 |
7 | g.107701951A>G | CA368843584 | SLC26A4 | c.1928A>G (p.Glu643Gly) c.639A>G n.215A>G c.1850A>G (p.Glu617Gly) | |
7 | g.107701951A>T | CA368843585 | SLC26A4 | c.1928A>T (p.Glu643Val) c.639A>T n.215A>T c.1850A>T (p.Glu617Val) | |
7 | g.107701952G>A | CA457103262 | SLC26A4 | c.1929G>A (p.Glu643=) c.640G>A n.216G>A c.1851G>A (p.Glu617=) | |
7 | g.107701952G>C | CA368843587 | SLC26A4 | c.1929G>C (p.Glu643Asp) c.640G>C n.216G>C c.1851G>C (p.Glu617Asp) | |
7 | g.107701952G>T | CA368843586 | SLC26A4 | c.1929G>T (p.Glu643Asp) c.640G>T n.216G>T c.1851G>T (p.Glu617Asp) | |
7 | g.107701953C>A | CA368843590 | SLC26A4 | c.1930C>A (p.Leu644Ile) c.641C>A n.217C>A c.1852C>A (p.Leu618Ile) | |
7 | g.107701953C>G | CA368843592 | SLC26A4 | c.1930C>G (p.Leu644Val) c.641C>G n.217C>G c.1852C>G (p.Leu618Val) | |
7 | g.107701953C>T | CA368843593 | SLC26A4 | c.1930C>T (p.Leu644Phe) c.641C>T n.217C>T c.1852C>T (p.Leu618Phe) | |
7 | g.107701954T>A | CA368843595 | SLC26A4 | c.1931T>A (p.Leu644His) c.642T>A n.218T>A c.1853T>A (p.Leu618His) | |
7 | g.107701954T>C | CA368843597 | SLC26A4 | c.1931T>C (p.Leu644Pro) c.642T>C n.218T>C c.1853T>C (p.Leu618Pro) | gnomAD v4 |
7 | g.107701954T>G | CA368843599 | SLC26A4 | c.1931T>G (p.Leu644Arg) c.642T>G n.218T>G c.1853T>G (p.Leu618Arg) | |
7 | g.107701955T>A | CA457103263 | SLC26A4 | c.1932T>A (p.Leu644=) c.643T>A n.219T>A c.1854T>A (p.Leu618=) | |
7 | g.107701955T>C | CA457103265 | SLC26A4 | c.1932T>C (p.Leu644=) c.643T>C n.219T>C c.1854T>C (p.Leu618=) | ClinVar |
7 | g.107701955T>G | CA457103264 | SLC26A4 | c.1932T>G (p.Leu644=) c.643T>G n.219T>G c.1854T>G (p.Leu618=) | |
7 | g.107701956C>A | CA368843600 | SLC26A4 | c.1933C>A (p.Pro645Thr) c.644C>A n.220C>A c.1855C>A (p.Pro619Thr) | |
7 | g.107701956C>G | CA368843602 | SLC26A4 | c.1933C>G (p.Pro645Ala) c.644C>G n.220C>G c.1855C>G (p.Pro619Ala) | |
7 | g.107701956C>T | CA368843603 | SLC26A4 | c.1933C>T (p.Pro645Ser) c.644C>T n.220C>T c.1855C>T (p.Pro619Ser) | |
7 | g.107701957C>A | CA368843606 | SLC26A4 | c.1934C>A (p.Pro645Gln) c.645C>A n.221C>A c.1856C>A (p.Pro619Gln) | |
7 | g.107701957C>G | CA368843608 | SLC26A4 | c.1934C>G (p.Pro645Arg) c.645C>G n.221C>G c.1856C>G (p.Pro619Arg) | |
7 | g.107701957C>T | CA368843609 | SLC26A4 | c.1934C>T (p.Pro645Leu) c.645C>T n.221C>T c.1856C>T (p.Pro619Leu) | |
7 | g.107701958A= | CA1732759314 | SLC26A4 | c.1935A= (p.Pro645=) c.646A= n.222A= c.1857A= (p.Pro619=) | |
7 | g.107701958A>C | CA164218575 | SLC26A4 | c.1935A>C (p.Pro645=) c.646A>C n.222A>C c.1857A>C (p.Pro619=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701958A>G | CA457103266 | SLC26A4 | c.1935A>G (p.Pro645=) c.646A>G n.222A>G c.1857A>G (p.Pro619=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701958A>T | CA457103267 | SLC26A4 | c.1935A>T (p.Pro645=) c.646A>T n.222A>T c.1857A>T (p.Pro619=) | gnomAD v4 |
7 | g.107701959G>A | CA368843615 | SLC26A4 | c.1936G>A (p.Val646Ile) c.647G>A n.223G>A c.1858G>A (p.Val620Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701959G>C | CA368843613 | SLC26A4 | c.1936G>C (p.Val646Leu) c.647G>C n.223G>C c.1858G>C (p.Val620Leu) | |
7 | g.107701959G= | CA1732759320 | SLC26A4 | c.1936G= (p.Val646=) c.647G= n.223G= c.1858G= (p.Val620=) | |
7 | g.107701959G>T | CA368843611 | SLC26A4 | c.1936G>T (p.Val646Phe) c.647G>T n.223G>T c.1858G>T (p.Val620Phe) | |
7 | g.107701960T>A | CA368843620 | SLC26A4 | c.1937T>A (p.Val646Asp) c.648T>A n.224T>A c.1859T>A (p.Val620Asp) | |
7 | g.107701960T>C | CA368843617 | SLC26A4 | c.1937T>C (p.Val646Ala) c.648T>C n.224T>C c.1859T>C (p.Val620Ala) | |
7 | g.107701960T>G | CA368843619 | SLC26A4 | c.1937T>G (p.Val646Gly) c.648T>G n.224T>G c.1859T>G (p.Val620Gly) | dbSNP |
7 | g.107701960T= | CA1732759323 | SLC26A4 | c.1937T= (p.Val646=) c.648T= n.224T= c.1859T= (p.Val620=) | |
7 | g.107701961C>A | CA457103268 | SLC26A4 | c.1938C>A (p.Val646=) c.649C>A n.225C>A c.1860C>A (p.Val620=) | |
7 | g.107701961C>G | CA457103270 | SLC26A4 | c.1938C>G (p.Val646=) c.649C>G n.225C>G c.1860C>G (p.Val620=) | COSMIC |
7 | g.107701961C>T | CA457103269 | SLC26A4 | c.1938C>T (p.Val646=) c.649C>T n.225C>T c.1860C>T (p.Val620=) | |
7 | g.107701962A>C | CA368843622 | SLC26A4 | c.1939A>C (p.Lys647Gln) c.650A>C n.226A>C c.1861A>C (p.Lys621Gln) | |
7 | g.107701962A>G | CA368843624 | SLC26A4 | c.1939A>G (p.Lys647Glu) c.650A>G n.226A>G c.1861A>G (p.Lys621Glu) | |
7 | g.107701962A>T | CA368843625 | SLC26A4 | c.1939A>T (p.Lys647Ter) c.650A>T n.226A>T c.1861A>T (p.Lys621Ter) | |
7 | g.107701963A>C | CA368843626 | SLC26A4 | c.1940A>C (p.Lys647Thr) c.651A>C n.227A>C c.1862A>C (p.Lys621Thr) | |
7 | g.107701963A>G | CA368843628 | SLC26A4 | c.1940A>G (p.Lys647Arg) c.651A>G n.227A>G c.1862A>G (p.Lys621Arg) | |
7 | g.107701963A>T | CA368843629 | SLC26A4 | c.1940A>T (p.Lys647Ile) c.651A>T n.227A>T c.1862A>T (p.Lys621Ile) | |
7 | g.107701964A>C | CA368843630 | SLC26A4 | c.1941A>C (p.Lys647Asn) c.652A>C n.228A>C c.1863A>C (p.Lys621Asn) | |
7 | g.107701964A>G | CA457103273 | SLC26A4 | c.1941A>G (p.Lys647=) c.652A>G n.228A>G c.1863A>G (p.Lys621=) | |
7 | g.107701964A>T | CA368843632 | SLC26A4 | c.1941A>T (p.Lys647Asn) c.652A>T n.228A>T c.1863A>T (p.Lys621Asn) | |
7 | g.107701965G>A | CA368843634 | SLC26A4 | c.1942G>A (p.Val648Met) c.653G>A n.229G>A c.1864G>A (p.Val622Met) | |
7 | g.107701965G>C | CA368843636 | SLC26A4 | c.1942G>C (p.Val648Leu) c.653G>C n.229G>C c.1864G>C (p.Val622Leu) | |
7 | g.107701965G>T | CA368843638 | SLC26A4 | c.1942G>T (p.Val648Leu) c.653G>T n.229G>T c.1864G>T (p.Val622Leu) | |
7 | g.107701966T>A | CA368843643 | SLC26A4 | c.1943T>A (p.Val648Glu) c.654T>A n.230T>A c.1865T>A (p.Val622Glu) | |
7 | g.107701966T>C | CA368843640 | SLC26A4 | c.1943T>C (p.Val648Ala) c.654T>C n.230T>C c.1865T>C (p.Val622Ala) | |
7 | g.107701966T>G | CA368843641 | SLC26A4 | c.1943T>G (p.Val648Gly) c.654T>G n.230T>G c.1865T>G (p.Val622Gly) | |
7 | g.107701967G>A | CA457103290 | SLC26A4 | c.1944G>A (p.Val648=) c.655G>A n.231G>A c.1866G>A (p.Val622=) | |
7 | g.107701967G>C | CA457103293 | SLC26A4 | c.1944G>C (p.Val648=) c.655G>C n.231G>C c.1866G>C (p.Val622=) | gnomAD v4 |
7 | g.107701967G>T | CA457103294 | SLC26A4 | c.1944G>T (p.Val648=) c.655G>T n.231G>T c.1866G>T (p.Val622=) | |
7 | g.107701968A>C | CA368843645 | SLC26A4 | c.1945A>C (p.Asn649His) c.656A>C n.232A>C c.1867A>C (p.Asn623His) | |
7 | g.107701968A>G | CA368843647 | SLC26A4 | c.1945A>G (p.Asn649Asp) c.656A>G n.232A>G c.1867A>G (p.Asn623Asp) | gnomAD v4 |
7 | g.107701968A>T | CA368843648 | SLC26A4 | c.1945A>T (p.Asn649Tyr) c.656A>T n.232A>T c.1867A>T (p.Asn623Tyr) | |
7 | g.107701969A>C | CA368843650 | SLC26A4 | c.1946A>C (p.Asn649Thr) c.657A>C n.233A>C c.1868A>C (p.Asn623Thr) | |
7 | g.107701969A>G | CA368843652 | SLC26A4 | c.1946A>G (p.Asn649Ser) c.657A>G n.233A>G c.1868A>G (p.Asn623Ser) | |
7 | g.107701969A>T | CA368843654 | SLC26A4 | c.1946A>T (p.Asn649Ile) c.657A>T n.233A>T c.1868A>T (p.Asn623Ile) | |
7 | g.107701970C>A | CA164218579 | SLC26A4 | c.1947C>A (p.Asn649Lys) c.658C>A n.234C>A c.1869C>A (p.Asn623Lys) | dbSNP gnomAD v4 |
7 | g.107701970C= | CA1732759327 | SLC26A4 | c.1947C= (p.Asn649=) c.658C= n.234C= c.1869C= (p.Asn623=) | |
7 | g.107701970C>G | CA368843655 | SLC26A4 | c.1947C>G (p.Asn649Lys) c.658C>G n.234C>G c.1869C>G (p.Asn623Lys) | |
7 | g.107701970C>T | CA4432988 | SLC26A4 | c.1947C>T (p.Asn649=) c.658C>T n.234C>T c.1869C>T (p.Asn623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701971G>A | CA4432989 | SLC26A4 | c.1948G>A (p.Val650Ile) c.659G>A n.235G>A c.1870G>A (p.Val624Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701971G>C | CA368843658 | SLC26A4 | c.1948G>C (p.Val650Leu) c.659G>C n.235G>C c.1870G>C (p.Val624Leu) | |
7 | g.107701971G= | CA1732759336 | SLC26A4 | c.1948G= (p.Val650=) c.659G= n.235G= c.1870G= (p.Val624=) | |
7 | g.107701971G>T | CA368843660 | SLC26A4 | c.1948G>T (p.Val650Phe) c.659G>T n.235G>T c.1870G>T (p.Val624Phe) | |
7 | g.107701972T>A | CA16041115 | SLC26A4 | c.1949T>A (p.Val650Asp) c.660T>A n.236T>A c.1871T>A (p.Val624Asp) | ClinVar dbSNP |
7 | g.107701972T>C | CA368843664 | SLC26A4 | c.1949T>C (p.Val650Ala) c.660T>C n.236T>C c.1871T>C (p.Val624Ala) | gnomAD v4 |
7 | g.107701972T>G | CA368843662 | SLC26A4 | c.1949T>G (p.Val650Gly) c.660T>G n.236T>G c.1871T>G (p.Val624Gly) | |
7 | g.107701972T= | CA1732759343 | SLC26A4 | c.1949T= (p.Val650=) c.660T= n.236T= c.1871T= (p.Val624=) | |
7 | g.107701973T>A | CA457103325 | SLC26A4 | c.1950T>A (p.Val650=) c.661T>A n.237T>A c.1872T>A (p.Val624=) | |
7 | g.107701973T>C | CA457103327 | SLC26A4 | c.1950T>C (p.Val650=) c.661T>C n.237T>C c.1872T>C (p.Val624=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.107701973T>G | CA457103330 | SLC26A4 | c.1950T>G (p.Val650=) c.661T>G n.237T>G c.1872T>G (p.Val624=) | |
7 | g.107701973T= | CA1732759349 | SLC26A4 | c.1950T= (p.Val650=) c.661T= n.237T= c.1872T= (p.Val624=) | |
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=) | |
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=) | |
7 | g.107701998G>A | CA368843750 | SLC26A4 | c.1975G>A (p.Val659Met) c.686G>A n.262G>A c.1897G>A (p.Val633Met) | |
7 | g.107701998G>C | CA274086 | SLC26A4 | c.1975G>C (p.Val659Leu) c.686G>C n.262G>C c.1897G>C (p.Val633Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701998G= | CA1732759446 | SLC26A4 | c.1975G= (p.Val659=) c.686G= n.262G= c.1897G= (p.Val633=) | |
7 | g.107701998G>T | CA368843751 | SLC26A4 | c.1975G>T (p.Val659Leu) c.686G>T n.262G>T c.1897G>T (p.Val633Leu) | |
7 | g.107701999del | CA2777355836 | SLC26A4 | c.1976del (p.Val659GlyfsTer15) c.687del n.263del c.1898del (p.Val633GlyfsTer15) | |
7 | g.107701999T>A | CA368843755 | SLC26A4 | c.1976T>A (p.Val659Glu) c.687T>A n.263T>A c.1898T>A (p.Val633Glu) | |
7 | g.107701999T>C | CA368843754 | SLC26A4 | c.1976T>C (p.Val659Ala) c.687T>C n.263T>C c.1898T>C (p.Val633Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701999T>G | CA368843753 | SLC26A4 | c.1976T>G (p.Val659Gly) c.687T>G n.263T>G c.1898T>G (p.Val633Gly) | |
7 | g.107701999T= | CA1732759452 | SLC26A4 | c.1976T= (p.Val659=) c.687T= n.263T= c.1898T= (p.Val633=) | |
7 | g.107702000G>A | CA457103516 | SLC26A4 | c.1977G>A (p.Val659=) c.688G>A n.264G>A c.1899G>A (p.Val633=) | |
7 | g.107702000G>C | CA457103518 | SLC26A4 | c.1977G>C (p.Val659=) c.688G>C n.264G>C c.1899G>C (p.Val633=) | |
7 | g.107702000G>T | CA457103520 | SLC26A4 | c.1977G>T (p.Val659=) c.688G>T n.264G>T c.1899G>T (p.Val633=) | gnomAD v4 |
7 | g.107702001C>A | CA368843756 | SLC26A4 | c.1978C>A (p.Leu660Ile) c.689C>A n.265C>A c.1900C>A (p.Leu634Ile) | |
7 | g.107702001C>G | CA368843758 | SLC26A4 | c.1978C>G (p.Leu660Val) c.689C>G n.265C>G c.1900C>G (p.Leu634Val) | |
7 | g.107702001C>T | CA368843757 | SLC26A4 | c.1978C>T (p.Leu660Phe) c.689C>T n.265C>T c.1900C>T (p.Leu634Phe) | gnomAD v4 |
7 | g.107702002T>A | CA368843759 | SLC26A4 | c.1979T>A (p.Leu660His) c.690T>A n.266T>A c.1901T>A (p.Leu634His) | |
7 | g.107702002T>C | CA368843760 | SLC26A4 | c.1979T>C (p.Leu660Pro) c.690T>C n.266T>C c.1901T>C (p.Leu634Pro) | ClinVar dbSNP |
7 | g.107702002T>G | CA368843761 | SLC26A4 | c.1979T>G (p.Leu660Arg) c.690T>G n.266T>G c.1901T>G (p.Leu634Arg) | |
7 | g.107702003T>A | CA457103853 | SLC26A4 | c.1980T>A (p.Leu660=) c.691T>A n.267T>A c.1902T>A (p.Leu634=) | |
7 | g.107702003T>C | CA457103854 | SLC26A4 | c.1980T>C (p.Leu660=) c.691T>C n.267T>C c.1902T>C (p.Leu634=) | ClinVar dbSNP gnomAD v4 |
7 | g.107702003T>G | CA457103855 | SLC26A4 | c.1980T>G (p.Leu660=) c.691T>G n.267T>G c.1902T>G (p.Leu634=) | |
7 | g.107702004G>A | CA368843762 | SLC26A4 | c.1981G>A (p.Asp661Asn) c.692G>A n.268G>A c.1903G>A (p.Asp635Asn) | |
7 | g.107702004G>C | CA368843763 | SLC26A4 | c.1981G>C (p.Asp661His) c.692G>C n.268G>C c.1903G>C (p.Asp635His) | |
7 | g.107702004G>T | CA368843764 | SLC26A4 | c.1981G>T (p.Asp661Tyr) c.692G>T n.268G>T c.1903G>T (p.Asp635Tyr) | |
7 | g.107702005A= | CA1732759456 | SLC26A4 | c.1982A= (p.Asp661=) c.693A= n.269A= c.1904A= (p.Asp635=) | |
7 | g.107702005A>C | CA368843765 | SLC26A4 | c.1982A>C (p.Asp661Ala) c.693A>C n.269A>C c.1904A>C (p.Asp635Ala) | |
7 | g.107702005A>G | CA368843766 | SLC26A4 | c.1982A>G (p.Asp661Gly) c.693A>G n.269A>G c.1904A>G (p.Asp635Gly) | |
7 | g.107702005A>T | CA368843767 | SLC26A4 | c.1982A>T (p.Asp661Val) c.693A>T n.269A>T c.1904A>T (p.Asp635Val) | dbSNP |
7 | g.107702006C>A | CA132687 | SLC26A4 | c.1983C>A (p.Asp661Glu) c.694C>A n.270C>A c.1905C>A (p.Asp635Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702006C= | CA1732759462 | SLC26A4 | c.1983C= (p.Asp661=) c.694C= n.270C= c.1905C= (p.Asp635=) | |
7 | g.107702006C>G | CA368843768 | SLC26A4 | c.1983C>G (p.Asp661Glu) c.694C>G n.270C>G c.1905C>G (p.Asp635Glu) | |
7 | g.107702006C>T | CA457103856 | SLC26A4 | c.1983C>T (p.Asp661=) c.694C>T n.270C>T c.1905C>T (p.Asp635=) | gnomAD v4 |
7 | g.107702008_107702021del | CA2580076173 | SLC26A4 | c.1985_1998del (p.Cys662PhefsTer21) c.696_709del n.272_285del c.1907_1920del (p.Cys636PhefsTer21) | ClinVar |