Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149981117_149981119delCA2578449467SLC26A2c.1524_1526del (p.Ser508del)
c.372+2766_372+2768del (n.372+2766_372+2768del)
gnomAD v4
5g.149981117T>ACA361708048SLC26A2c.1524T>A (p.Ser508Arg)
c.372+2766T>A (n.372+2766T>A)
5g.149981117T>CCA447402623SLC26A2c.1524T>C (p.Ser508=)
c.372+2766T>C (n.372+2766T>C)
5g.149981117T>GCA361708049SLC26A2c.1524T>G (p.Ser508Arg)
c.372+2766T>G (n.372+2766T>G)
5g.149981118A>CCA447402625SLC26A2c.1525A>C (p.Arg509=)
c.372+2767A>C (n.372+2767A>C)
5g.149981118A>GCA361708050SLC26A2c.1525A>G (p.Arg509Gly)
c.372+2767A>G (n.372+2767A>G)
5g.149981118A>TCA361708051SLC26A2c.1525A>T (p.Arg509Ter)
c.372+2767A>T (n.372+2767A>T)
5g.149981119G>ACA361708052SLC26A2c.1526G>A (p.Arg509Lys)
c.372+2768G>A (n.372+2768G>A)
5g.149981119G>CCA361708054SLC26A2c.1526G>C (p.Arg509Thr)
c.372+2768G>C (n.372+2768G>C)
5g.149981119G>TCA361708053SLC26A2c.1526G>T (p.Arg509Ile)
c.372+2768G>T (n.372+2768G>T)
5g.149981120A>CCA361708055SLC26A2c.1527A>C (p.Arg509Ser)
c.372+2769A>C (n.372+2769A>C)
5g.149981120A>GCA447402627SLC26A2c.1527A>G (p.Arg509=)
c.372+2769A>G (n.372+2769A>G)
5g.149981120A>TCA361708056SLC26A2c.1527A>T (p.Arg509Ser)
c.372+2769A>T (n.372+2769A>T)
5g.149981121A>CCA361708057SLC26A2c.1528A>C (p.Met510Leu)
c.372+2770A>C (n.372+2770A>C)
5g.149981121A>GCA361708058SLC26A2c.1528A>G (p.Met510Val)
c.372+2770A>G (n.372+2770A>G)
5g.149981121A>TCA361708059SLC26A2c.1528A>T (p.Met510Leu)
c.372+2770A>T (n.372+2770A>T)
5g.149981122T>ACA361708060SLC26A2c.1529T>A (p.Met510Lys)
c.372+2771T>A (n.372+2771T>A)
5g.149981122T>CCA361708061SLC26A2c.1529T>C (p.Met510Thr)
c.372+2771T>C (n.372+2771T>C)
gnomAD v4
5g.149981122T>GCA361708062SLC26A2c.1529T>G (p.Met510Arg)
c.372+2771T>G (n.372+2771T>G)
5g.149981123G>ACA361708063SLC26A2c.1530G>A (p.Met510Ile)
c.372+2772G>A (n.372+2772G>A)
gnomAD v4
5g.149981123G>CCA361708064SLC26A2c.1530G>C (p.Met510Ile)
c.372+2772G>C (n.372+2772G>C)
5g.149981123G>TCA361708065SLC26A2c.1530G>T (p.Met510Ile)
c.372+2772G>T (n.372+2772G>T)
5g.149981124G>ACA361708067SLC26A2c.1531G>A (p.Asp511Asn)
c.372+2773G>A (n.372+2773G>A)
5g.149981124G>CCA361708068SLC26A2c.1531G>C (p.Asp511His)
c.372+2773G>C (n.372+2773G>C)
5g.149981124G>TCA361708066SLC26A2c.1531G>T (p.Asp511Tyr)
c.372+2773G>T (n.372+2773G>T)
5g.149981125A>CCA361708071SLC26A2c.1532A>C (p.Asp511Ala)
c.372+2774A>C (n.372+2774A>C)
5g.149981125A>GCA361708069SLC26A2c.1532A>G (p.Asp511Gly)
c.372+2774A>G (n.372+2774A>G)
5g.149981125A>TCA361708070SLC26A2c.1532A>T (p.Asp511Val)
c.372+2774A>T (n.372+2774A>T)
5g.149981126T>ACA3505454SLC26A2c.1533T>A (p.Asp511Glu)
c.372+2775T>A (n.372+2775T>A)
dbSNP ExAC gnomAD v2
5g.149981126T>CCA447402633SLC26A2c.1533T>C (p.Asp511=)
c.372+2775T>C (n.372+2775T>C)
5g.149981126T>GCA361708072SLC26A2c.1533T>G (p.Asp511Glu)
c.372+2775T>G (n.372+2775T>G)
5g.149981126T=CA1590738648SLC26A2c.1533T= (p.Asp511=)
c.372+2775T= (n.372+2775T=)
5g.149981126_149981128delinsTACCA1590738649SLC26A2c.1533_1535delinsTAC (p.Asp511=)
c.372+2775_372+2777delinsTAC (n.372+2775_372+2777delinsTAC)
5g.149981127A>CCA361708073SLC26A2c.1534A>C (p.Thr512Pro)
c.372+2776A>C (n.372+2776A>C)
5g.149981127A>GCA361708074SLC26A2c.1534A>G (p.Thr512Ala)
c.372+2776A>G (n.372+2776A>G)
5g.149981127A>TCA361708075SLC26A2c.1534A>T (p.Thr512Ser)
c.372+2776A>T (n.372+2776A>T)
5g.149981128_149981129delCA563955691SLC26A2c.1535_1536del (p.Thr512SerfsTer16)
c.372+2777_372+2778del (n.372+2777_372+2778del)
dbSNP gnomAD v2 gnomAD v4
5g.149981128C>ACA116649SLC26A2c.1535C>A (p.Thr512Lys)
c.372+2777C>A (n.372+2777C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149981128C=CA1590738650SLC26A2c.1535C= (p.Thr512=)
c.372+2777C= (n.372+2777C=)
5g.149981128C>GCA361708076SLC26A2c.1535C>G (p.Thr512Arg)
c.372+2777C>G (n.372+2777C>G)
5g.149981128C>TCA361708077SLC26A2c.1535C>T (p.Thr512Ile)
c.372+2777C>T (n.372+2777C>T)
gnomAD v4
5g.149981129A=CA1590738651SLC26A2c.1536A= (p.Thr512=)
c.372+2778A= (n.372+2778A=)
5g.149981129A>CCA447402642SLC26A2c.1536A>C (p.Thr512=)
c.372+2778A>C (n.372+2778A>C)
dbSNP
5g.149981129A>GCA447402640SLC26A2c.1536A>G (p.Thr512=)
c.372+2778A>G (n.372+2778A>G)
gnomAD v4
5g.149981129A>TCA447402641SLC26A2c.1536A>T (p.Thr512=)
c.372+2778A>T (n.372+2778A>T)
5g.149981130G>ACA361708080SLC26A2c.1537G>A (p.Val513Ile)
c.372+2779G>A (n.372+2779G>A)
5g.149981130G>CCA361708079SLC26A2c.1537G>C (p.Val513Leu)
c.372+2779G>C (n.372+2779G>C)
5g.149981130G>TCA361708078SLC26A2c.1537G>T (p.Val513Phe)
c.372+2779G>T (n.372+2779G>T)
5g.149981130_149981134dupCA16040997SLC26A2c.1537_1541dup (p.Ile514MetfsTer14)
c.372+2779_372+2783dup (n.372+2779_372+2783dup)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.149981131T>ACA361708081SLC26A2c.1538T>A (p.Val513Asp)
c.372+2780T>A (n.372+2780T>A)
5g.149981131T>CCA361708082SLC26A2c.1538T>C (p.Val513Ala)
c.372+2780T>C (n.372+2780T>C)
5g.149981131T>GCA361708083SLC26A2c.1538T>G (p.Val513Gly)
c.372+2780T>G (n.372+2780T>G)
5g.149981132T>ACA447402648SLC26A2c.1539T>A (p.Val513=)
c.372+2781T>A (n.372+2781T>A)
5g.149981132T>CCA447402651SLC26A2c.1539T>C (p.Val513=)
c.372+2781T>C (n.372+2781T>C)
5g.149981132T>GCA447402654SLC26A2c.1539T>G (p.Val513=)
c.372+2781T>G (n.372+2781T>G)
5g.149981133A>CCA361708084SLC26A2c.1540A>C (p.Ile514Leu)
c.372+2782A>C (n.372+2782A>C)
5g.149981133A>GCA361708085SLC26A2c.1540A>G (p.Ile514Val)
c.372+2782A>G (n.372+2782A>G)
gnomAD v4
5g.149981133A>TCA361708086SLC26A2c.1540A>T (p.Ile514Phe)
c.372+2782A>T (n.372+2782A>T)
5g.149981134T>ACA361708087SLC26A2c.1541T>A (p.Ile514Asn)
c.372+2783T>A (n.372+2783T>A)
5g.149981134T>CCA3505455SLC26A2c.1541T>C (p.Ile514Thr)
c.372+2783T>C (n.372+2783T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149981134T>GCA361708088SLC26A2c.1541T>G (p.Ile514Ser)
c.372+2783T>G (n.372+2783T>G)
5g.149981134T=CA1590738652SLC26A2c.1541T= (p.Ile514=)
c.372+2783T= (n.372+2783T=)
5g.149981135C>ACA447402658SLC26A2c.1542C>A (p.Ile514=)
c.372+2784C>A (n.372+2784C>A)
5g.149981135C>GCA361708089SLC26A2c.1542C>G (p.Ile514Met)
c.372+2784C>G (n.372+2784C>G)
5g.149981135C>TCA447402659SLC26A2c.1542C>T (p.Ile514=)
c.372+2784C>T (n.372+2784C>T)
ClinVar
5g.149981136T>ACA361708090SLC26A2c.1543T>A (p.Trp515Arg)
c.372+2785T>A (n.372+2785T>A)
5g.149981136T>CCA361708091SLC26A2c.1543T>C (p.Trp515Arg)
c.372+2785T>C (n.372+2785T>C)
5g.149981136T>GCA361708092SLC26A2c.1543T>G (p.Trp515Gly)
c.372+2785T>G (n.372+2785T>G)
5g.149981137G>ACA361708095SLC26A2c.1544G>A (p.Trp515Ter)
c.372+2786G>A (n.372+2786G>A)
ClinVar dbSNP gnomAD v4
5g.149981137G>CCA361708094SLC26A2c.1544G>C (p.Trp515Ser)
c.372+2786G>C (n.372+2786G>C)
5g.149981137G>TCA361708093SLC26A2c.1544G>T (p.Trp515Leu)
c.372+2786G>T (n.372+2786G>T)
5g.149981138G>ACA3505456SLC26A2c.1545G>A (p.Trp515Ter)
c.372+2787G>A (n.372+2787G>A)
dbSNP ExAC gnomAD v2
5g.149981138G>CCA361708096SLC26A2c.1545G>C (p.Trp515Cys)
c.372+2787G>C (n.372+2787G>C)
5g.149981138G=CA1590738653SLC26A2c.1545G= (p.Trp515=)
c.372+2787G= (n.372+2787G=)
5g.149981138G>TCA361708097SLC26A2c.1545G>T (p.Trp515Cys)
c.372+2787G>T (n.372+2787G>T)
5g.149981139T>ACA361708098SLC26A2c.1546T>A (p.Phe516Ile)
c.372+2788T>A (n.372+2788T>A)
5g.149981139T>CCA361708099SLC26A2c.1546T>C (p.Phe516Leu)
c.372+2788T>C (n.372+2788T>C)
5g.149981139T>GCA361708100SLC26A2c.1546T>G (p.Phe516Val)
c.372+2788T>G (n.372+2788T>G)
5g.149981140T>ACA361708101SLC26A2c.1547T>A (p.Phe516Tyr)
c.372+2789T>A (n.372+2789T>A)
5g.149981140T>CCA361708102SLC26A2c.1547T>C (p.Phe516Ser)
c.372+2789T>C (n.372+2789T>C)
5g.149981140T>GCA361708103SLC26A2c.1547T>G (p.Phe516Cys)
c.372+2789T>G (n.372+2789T>G)
5g.149981141T>ACA361708104SLC26A2c.1548T>A (p.Phe516Leu)
c.372+2790T>A (n.372+2790T>A)
5g.149981141T>CCA447402668SLC26A2c.1548T>C (p.Phe516=)
c.372+2790T>C (n.372+2790T>C)
5g.149981141T>GCA361708105SLC26A2c.1548T>G (p.Phe516Leu)
c.372+2790T>G (n.372+2790T>G)
5g.149981142G>ACA361708106SLC26A2c.1549G>A (p.Val517Ile)
c.372+2791G>A (n.372+2791G>A)
5g.149981142G>CCA361708107SLC26A2c.1549G>C (p.Val517Leu)
c.372+2791G>C (n.372+2791G>C)
ClinVar
5g.149981142G>TCA361708108SLC26A2c.1549G>T (p.Val517Phe)
c.372+2791G>T (n.372+2791G>T)
5g.149981143T>ACA361708111SLC26A2c.1550T>A (p.Val517Asp)
c.372+2792T>A (n.372+2792T>A)
5g.149981143T>CCA361708109SLC26A2c.1550T>C (p.Val517Ala)
c.372+2792T>C (n.372+2792T>C)
5g.149981143T>GCA361708110SLC26A2c.1550T>G (p.Val517Gly)
c.372+2792T>G (n.372+2792T>G)
gnomAD v4
5g.149981144T>ACA3505457SLC26A2c.1551T>A (p.Val517=)
c.372+2793T>A (n.372+2793T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149981144T>CCA129084440SLC26A2c.1551T>C (p.Val517=)
c.372+2793T>C (n.372+2793T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149981144T>GCA447402674SLC26A2c.1551T>G (p.Val517=)
c.372+2793T>G (n.372+2793T>G)
5g.149981144T=CA1590738654SLC26A2c.1551T= (p.Val517=)
c.372+2793T= (n.372+2793T=)
5g.149981145A>CCA361708112SLC26A2c.1552A>C (p.Thr518Pro)
c.372+2794A>C (n.372+2794A>C)
5g.149981145A>GCA361708113SLC26A2c.1552A>G (p.Thr518Ala)
c.372+2794A>G (n.372+2794A>G)
gnomAD v4
5g.149981145A>TCA361708114SLC26A2c.1552A>T (p.Thr518Ser)
c.372+2794A>T (n.372+2794A>T)
5g.149981146C>ACA361708115SLC26A2c.1553C>A (p.Thr518Asn)
c.372+2795C>A (n.372+2795C>A)
5g.149981146C=CA1590738655SLC26A2c.1553C= (p.Thr518=)
c.372+2795C= (n.372+2795C=)
5g.149981146C>GCA361708116SLC26A2c.1553C>G (p.Thr518Ser)
c.372+2795C>G (n.372+2795C>G)
gnomAD v4
5g.149981146C>TCA129084446SLC26A2c.1553C>T (p.Thr518Ile)
c.372+2795C>T (n.372+2795C>T)
dbSNP
5g.149981147T>ACA447402679SLC26A2c.1554T>A (p.Thr518=)
c.372+2796T>A (n.372+2796T>A)
5g.149981147T>CCA447402681SLC26A2c.1554T>C (p.Thr518=)
c.372+2796T>C (n.372+2796T>C)
5g.149981147T>GCA447402683SLC26A2c.1554T>G (p.Thr518=)
c.372+2796T>G (n.372+2796T>G)
ClinVar
5g.149981148A=CA1590738656SLC26A2c.1555A= (p.Met519=)
c.372+2797A= (n.372+2797A=)
5g.149981148A>CCA361708117SLC26A2c.1555A>C (p.Met519Leu)
c.372+2797A>C (n.372+2797A>C)
5g.149981148A>GCA129084455SLC26A2c.1555A>G (p.Met519Val)
c.372+2797A>G (n.372+2797A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149981148A>TCA361708118SLC26A2c.1555A>T (p.Met519Leu)
c.372+2797A>T (n.372+2797A>T)
5g.149981149T>ACA361708119SLC26A2c.1556T>A (p.Met519Lys)
c.372+2798T>A (n.372+2798T>A)
5g.149981149T>CCA3505458SLC26A2c.1556T>C (p.Met519Thr)
c.372+2798T>C (n.372+2798T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149981149T>GCA361708120SLC26A2c.1556T>G (p.Met519Arg)
c.372+2798T>G (n.372+2798T>G)
5g.149981149T=CA1590738657SLC26A2c.1556T= (p.Met519=)
c.372+2798T= (n.372+2798T=)
5g.149981150G>ACA361708122SLC26A2c.1557G>A (p.Met519Ile)
c.372+2799G>A (n.372+2799G>A)
5g.149981150G>CCA361708123SLC26A2c.1557G>C (p.Met519Ile)
c.372+2799G>C (n.372+2799G>C)
5g.149981150G>TCA361708121SLC26A2c.1557G>T (p.Met519Ile)
c.372+2799G>T (n.372+2799G>T)
5g.149981151C>ACA361708124SLC26A2c.1558C>A (p.Leu520Met)
c.372+2800C>A (n.372+2800C>A)
5g.149981151C=CA1590738658SLC26A2c.1558C= (p.Leu520=)
c.372+2800C= (n.372+2800C=)
5g.149981151C>GCA361708125SLC26A2c.1558C>G (p.Leu520Val)
c.372+2800C>G (n.372+2800C>G)
5g.149981151C>TCA447402690SLC26A2c.1558C>T (p.Leu520=)
c.372+2800C>T (n.372+2800C>T)
ClinVar dbSNP gnomAD v4 COSMIC
5g.149981152T>ACA361708126SLC26A2c.1559T>A (p.Leu520Gln)
c.372+2801T>A (n.372+2801T>A)
5g.149981152T>CCA361708127SLC26A2c.1559T>C (p.Leu520Pro)
c.372+2801T>C (n.372+2801T>C)
5g.149981152T>GCA361708128SLC26A2c.1559T>G (p.Leu520Arg)
c.372+2801T>G (n.372+2801T>G)
5g.149981153G>ACA3505459SLC26A2c.1560G>A (p.Leu520=)
c.372+2802G>A (n.372+2802G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981153G>CCA447402694SLC26A2c.1560G>C (p.Leu520=)
c.372+2802G>C (n.372+2802G>C)
dbSNP
5g.149981153G=CA1590738659SLC26A2c.1560G= (p.Leu520=)
c.372+2802G= (n.372+2802G=)
5g.149981153G>TCA447402695SLC26A2c.1560G>T (p.Leu520=)
c.372+2802G>T (n.372+2802G>T)
5g.149981154T>ACA361708129SLC26A2c.1561T>A (p.Ser521Thr)
c.372+2803T>A (n.372+2803T>A)
gnomAD v4
5g.149981154T>CCA361708130SLC26A2c.1561T>C (p.Ser521Pro)
c.372+2803T>C (n.372+2803T>C)
5g.149981154T>GCA361708131SLC26A2c.1561T>G (p.Ser521Ala)
c.372+2803T>G (n.372+2803T>G)
5g.149981155C>ACA361708132SLC26A2c.1562C>A (p.Ser521Tyr)
c.372+2804C>A (n.372+2804C>A)
5g.149981155C>GCA361708133SLC26A2c.1562C>G (p.Ser521Cys)
c.372+2804C>G (n.372+2804C>G)
5g.149981155C>TCA361708134SLC26A2c.1562C>T (p.Ser521Phe)
c.372+2804C>T (n.372+2804C>T)
5g.149981156C>ACA447402699SLC26A2c.1563C>A (p.Ser521=)
c.372+2805C>A (n.372+2805C>A)
5g.149981156C>GCA447402700SLC26A2c.1563C>G (p.Ser521=)
c.372+2805C>G (n.372+2805C>G)
5g.149981156C>TCA447402701SLC26A2c.1563C>T (p.Ser521=)
c.372+2805C>T (n.372+2805C>T)
5g.149981157T>ACA361708135SLC26A2c.1564T>A (p.Ser522Thr)
c.372+2806T>A (n.372+2806T>A)
5g.149981157T>CCA361708136SLC26A2c.1564T>C (p.Ser522Pro)
c.372+2806T>C (n.372+2806T>C)
ClinVar dbSNP
5g.149981157T>GCA361708137SLC26A2c.1564T>G (p.Ser522Ala)
c.372+2806T>G (n.372+2806T>G)
5g.149981157T=CA1590738660SLC26A2c.1564T= (p.Ser522=)
c.372+2806T= (n.372+2806T=)
5g.149981158C>ACA361708138SLC26A2c.1565C>A (p.Ser522Tyr)
c.372+2807C>A (n.372+2807C>A)
5g.149981158C=CA1590738661SLC26A2c.1565C= (p.Ser522=)
c.372+2807C= (n.372+2807C=)
5g.149981158C>GCA361708140SLC26A2c.1565C>G (p.Ser522Cys)
c.372+2807C>G (n.372+2807C>G)
5g.149981158C>TCA361708139SLC26A2c.1565C>T (p.Ser522Phe)
c.372+2807C>T (n.372+2807C>T)
ClinVar dbSNP
5g.149981159T>ACA447402704SLC26A2c.1566T>A (p.Ser522=)
c.372+2808T>A (n.372+2808T>A)
5g.149981159T>CCA447402706SLC26A2c.1566T>C (p.Ser522=)
c.372+2808T>C (n.372+2808T>C)
5g.149981159T>GCA447402707SLC26A2c.1566T>G (p.Ser522=)
c.372+2808T>G (n.372+2808T>G)
5g.149981160G>ACA361708141SLC26A2c.1567G>A (p.Ala523Thr)
c.372+2809G>A (n.372+2809G>A)
5g.149981160G>CCA361708142SLC26A2c.1567G>C (p.Ala523Pro)
c.372+2809G>C (n.372+2809G>C)
5g.149981160G>TCA361708143SLC26A2c.1567G>T (p.Ala523Ser)
c.372+2809G>T (n.372+2809G>T)
5g.149981161C>ACA361708144SLC26A2c.1568C>A (p.Ala523Glu)
c.372+2810C>A (n.372+2810C>A)
5g.149981161C>GCA361708145SLC26A2c.1568C>G (p.Ala523Gly)
c.372+2810C>G (n.372+2810C>G)
5g.149981161C>TCA361708146SLC26A2c.1568C>T (p.Ala523Val)
c.372+2810C>T (n.372+2810C>T)
gnomAD v4
5g.149981162A>CCA447402709SLC26A2c.1569A>C (p.Ala523=)
c.372+2811A>C (n.372+2811A>C)
gnomAD v4
5g.149981162A>GCA447402711SLC26A2c.1569A>G (p.Ala523=)
c.372+2811A>G (n.372+2811A>G)
ClinVar gnomAD v4
5g.149981162A>TCA447402710SLC26A2c.1569A>T (p.Ala523=)
c.372+2811A>T (n.372+2811A>T)
5g.149981163C>ACA361708147SLC26A2c.1570C>A (p.Leu524Met)
c.372+2812C>A (n.372+2812C>A)
5g.149981163C>GCA361708148SLC26A2c.1570C>G (p.Leu524Val)
c.372+2812C>G (n.372+2812C>G)
5g.149981163C>TCA447402713SLC26A2c.1570C>T (p.Leu524=)
c.372+2812C>T (n.372+2812C>T)
5g.149981164T>ACA361708149SLC26A2c.1571T>A (p.Leu524Gln)
c.372+2813T>A (n.372+2813T>A)
5g.149981164T>CCA361708150SLC26A2c.1571T>C (p.Leu524Pro)
c.372+2813T>C (n.372+2813T>C)
5g.149981164T>GCA361708151SLC26A2c.1571T>G (p.Leu524Arg)
c.372+2813T>G (n.372+2813T>G)
5g.149981165G>ACA447402716SLC26A2c.1572G>A (p.Leu524=)
c.372+2814G>A (n.372+2814G>A)
5g.149981165G>CCA447402718SLC26A2c.1572G>C (p.Leu524=)
c.372+2814G>C (n.372+2814G>C)
5g.149981165G>TCA447402719SLC26A2c.1572G>T (p.Leu524=)
c.372+2814G>T (n.372+2814G>T)
gnomAD v4
5g.149981166C>ACA361708152SLC26A2c.1573C>A (p.Leu525Ile)
c.372+2815C>A (n.372+2815C>A)
5g.149981166C=CA1590738662SLC26A2c.1573C= (p.Leu525=)
c.372+2815C= (n.372+2815C=)
5g.149981166C>GCA3505460SLC26A2c.1573C>G (p.Leu525Val)
c.372+2815C>G (n.372+2815C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981166C>TCA447402721SLC26A2c.1573C>T (p.Leu525=)
c.372+2815C>T (n.372+2815C>T)
5g.149981167T>ACA361708153SLC26A2c.1574T>A (p.Leu525Gln)
c.372+2816T>A (n.372+2816T>A)
5g.149981167T>CCA361708154SLC26A2c.1574T>C (p.Leu525Pro)
c.372+2816T>C (n.372+2816T>C)
dbSNP gnomAD v4 COSMIC
5g.149981167T>GCA361708155SLC26A2c.1574T>G (p.Leu525Arg)
c.372+2816T>G (n.372+2816T>G)
5g.149981167T=CA1590738663SLC26A2c.1574T= (p.Leu525=)
c.372+2816T= (n.372+2816T=)
5g.149981168A>CCA447402724SLC26A2c.1575A>C (p.Leu525=)
c.372+2817A>C (n.372+2817A>C)
5g.149981168A>GCA447402725SLC26A2c.1575A>G (p.Leu525=)
c.372+2817A>G (n.372+2817A>G)
ClinVar gnomAD v4
5g.149981168A>TCA447402726SLC26A2c.1575A>T (p.Leu525=)
c.372+2817A>T (n.372+2817A>T)
5g.149981169A>CCA361708156SLC26A2c.1576A>C (p.Ser526Arg)
c.372+2818A>C (n.372+2818A>C)
5g.149981169A>GCA361708157SLC26A2c.1576A>G (p.Ser526Gly)
c.372+2818A>G (n.372+2818A>G)
5g.149981169A>TCA361708158SLC26A2c.1576A>T (p.Ser526Cys)
c.372+2818A>T (n.372+2818A>T)
5g.149981170G>ACA361708161SLC26A2c.1577G>A (p.Ser526Asn)
c.372+2819G>A (n.372+2819G>A)
dbSNP gnomAD v2 gnomAD v4
5g.149981170G>CCA361708159SLC26A2c.1577G>C (p.Ser526Thr)
c.372+2819G>C (n.372+2819G>C)
5g.149981170G=CA1590738664SLC26A2c.1577G= (p.Ser526=)
c.372+2819G= (n.372+2819G=)
5g.149981170G>TCA361708160SLC26A2c.1577G>T (p.Ser526Ile)
c.372+2819G>T (n.372+2819G>T)
5g.149981171T>ACA361708162SLC26A2c.1578T>A (p.Ser526Arg)
c.372+2820T>A (n.372+2820T>A)
5g.149981171T>CCA447402728SLC26A2c.1578T>C (p.Ser526=)
c.372+2820T>C (n.372+2820T>C)
gnomAD v4
5g.149981171T>GCA361708163SLC26A2c.1578T>G (p.Ser526Arg)
c.372+2820T>G (n.372+2820T>G)
5g.149981172A=CA1590738665SLC26A2c.1579A= (p.Thr527=)
c.372+2821A= (n.372+2821A=)
5g.149981172A>CCA361708164SLC26A2c.1579A>C (p.Thr527Pro)
c.372+2821A>C (n.372+2821A>C)
5g.149981172A>GCA361708165SLC26A2c.1579A>G (p.Thr527Ala)
c.372+2821A>G (n.372+2821A>G)
dbSNP
5g.149981172A>TCA361708166SLC26A2c.1579A>T (p.Thr527Ser)
c.372+2821A>T (n.372+2821A>T)
5g.149981173C>ACA361708167SLC26A2c.1580C>A (p.Thr527Asn)
c.372+2822C>A (n.372+2822C>A)
dbSNP
5g.149981173C=CA1590738666SLC26A2c.1580C= (p.Thr527=)
c.372+2822C= (n.372+2822C=)
5g.149981173C>GCA361708169SLC26A2c.1580C>G (p.Thr527Ser)
c.372+2822C>G (n.372+2822C>G)
5g.149981173C>TCA361708168SLC26A2c.1580C>T (p.Thr527Ile)
c.372+2822C>T (n.372+2822C>T)
gnomAD v4
5g.149981174T>ACA447402729SLC26A2c.1581T>A (p.Thr527=)
c.372+2823T>A (n.372+2823T>A)
5g.149981174T>CCA447402730SLC26A2c.1581T>C (p.Thr527=)
c.372+2823T>C (n.372+2823T>C)
5g.149981174T>GCA447402731SLC26A2c.1581T>G (p.Thr527=)
c.372+2823T>G (n.372+2823T>G)
5g.149981175G>ACA361708170SLC26A2c.1582G>A (p.Glu528Lys)
c.372+2824G>A (n.372+2824G>A)
5g.149981175G>CCA361708171SLC26A2c.1582G>C (p.Glu528Gln)
c.372+2824G>C (n.372+2824G>C)
5g.149981175G>TCA361708172SLC26A2c.1582G>T (p.Glu528Ter)
c.372+2824G>T (n.372+2824G>T)
5g.149981176A>CCA361708173SLC26A2c.1583A>C (p.Glu528Ala)
c.372+2825A>C (n.372+2825A>C)
5g.149981176A>GCA361708174SLC26A2c.1583A>G (p.Glu528Gly)
c.372+2825A>G (n.372+2825A>G)
5g.149981176A>TCA361708175SLC26A2c.1583A>T (p.Glu528Val)
c.372+2825A>T (n.372+2825A>T)
5g.149981177A=CA1590738667SLC26A2c.1584A= (p.Glu528=)
c.372+2826A= (n.372+2826A=)
5g.149981177A>CCA361708176SLC26A2c.1584A>C (p.Glu528Asp)
c.372+2826A>C (n.372+2826A>C)
5g.149981177A>GCA447402732SLC26A2c.1584A>G (p.Glu528=)
c.372+2826A>G (n.372+2826A>G)
dbSNP gnomAD v2
5g.149981177A>TCA361708177SLC26A2c.1584A>T (p.Glu528Asp)
c.372+2826A>T (n.372+2826A>T)
5g.149981178A>CCA361708178SLC26A2c.1585A>C (p.Ile529Leu)
c.372+2827A>C (n.372+2827A>C)
5g.149981178A>GCA361708179SLC26A2c.1585A>G (p.Ile529Val)
c.372+2827A>G (n.372+2827A>G)
5g.149981178A>TCA361708180SLC26A2c.1585A>T (p.Ile529Leu)
c.372+2827A>T (n.372+2827A>T)
5g.149981179T>ACA361708183SLC26A2c.1586T>A (p.Ile529Lys)
c.372+2828T>A (n.372+2828T>A)
5g.149981179T>CCA361708182SLC26A2c.1586T>C (p.Ile529Thr)
c.372+2828T>C (n.372+2828T>C)
dbSNP gnomAD v4
5g.149981179T>GCA361708181SLC26A2c.1586T>G (p.Ile529Arg)
c.372+2828T>G (n.372+2828T>G)
5g.149981179T=CA1590738668SLC26A2c.1586T= (p.Ile529=)
c.372+2828T= (n.372+2828T=)
5g.149981180A=CA1590738669SLC26A2c.1587A= (p.Ile529=)
c.372+2829A= (n.372+2829A=)
5g.149981180A>CCA447402733SLC26A2c.1587A>C (p.Ile529=)
c.372+2829A>C (n.372+2829A>C)
5g.149981180A>GCA361708184SLC26A2c.1587A>G (p.Ile529Met)
c.372+2829A>G (n.372+2829A>G)
dbSNP gnomAD v3 gnomAD v4
5g.149981180A>TCA447402734SLC26A2c.1587A>T (p.Ile529=)
c.372+2829A>T (n.372+2829A>T)
5g.149981181G>ACA361708185SLC26A2c.1588G>A (p.Gly530Ser)
c.372+2830G>A (n.372+2830G>A)
gnomAD v4
5g.149981181G>CCA361708186SLC26A2c.1588G>C (p.Gly530Arg)
c.372+2830G>C (n.372+2830G>C)
5g.149981181G>TCA361708187SLC26A2c.1588G>T (p.Gly530Cys)
c.372+2830G>T (n.372+2830G>T)
5g.149981182G>ACA361708188SLC26A2c.1589G>A (p.Gly530Asp)
c.372+2831G>A (n.372+2831G>A)
5g.149981182G>CCA3505461SLC26A2c.1589G>C (p.Gly530Ala)
c.372+2831G>C (n.372+2831G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981182G=CA1590738670SLC26A2c.1589G= (p.Gly530=)
c.372+2831G= (n.372+2831G=)
5g.149981182G>TCA361708189SLC26A2c.1589G>T (p.Gly530Val)
c.372+2831G>T (n.372+2831G>T)
5g.149981183C>ACA447402737SLC26A2c.1590C>A (p.Gly530=)
c.372+2832C>A (n.372+2832C>A)
5g.149981183C>GCA447402736SLC26A2c.1590C>G (p.Gly530=)
c.372+2832C>G (n.372+2832C>G)
5g.149981183C>TCA447402735SLC26A2c.1590C>T (p.Gly530=)
c.372+2832C>T (n.372+2832C>T)
gnomAD v4
5g.149981184C>ACA361708190SLC26A2c.1591C>A (p.Leu531Ile)
c.372+2833C>A (n.372+2833C>A)
5g.149981184C=CA1590738671SLC26A2c.1591C= (p.Leu531=)
c.372+2833C= (n.372+2833C=)
5g.149981184C>GCA3505462SLC26A2c.1591C>G (p.Leu531Val)
c.372+2833C>G (n.372+2833C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981184C>TCA447402738SLC26A2c.1591C>T (p.Leu531=)
c.372+2833C>T (n.372+2833C>T)
5g.149981185delCA2573139279SLC26A2c.1592del (p.Leu531HisfsTer?)
c.372+2834del (n.372+2834del)
ClinVar dbSNP
5g.149981185T>ACA361708191SLC26A2c.1592T>A (p.Leu531Gln)
c.372+2834T>A (n.372+2834T>A)
5g.149981185T>CCA361708192SLC26A2c.1592T>C (p.Leu531Pro)
c.372+2834T>C (n.372+2834T>C)
5g.149981185T>GCA361708193SLC26A2c.1592T>G (p.Leu531Arg)
c.372+2834T>G (n.372+2834T>G)
5g.149981186A>CCA447402739SLC26A2c.1593A>C (p.Leu531=)
c.372+2835A>C (n.372+2835A>C)
5g.149981186A>GCA447402740SLC26A2c.1593A>G (p.Leu531=)
c.372+2835A>G (n.372+2835A>G)
5g.149981186A>TCA447402741SLC26A2c.1593A>T (p.Leu531=)
c.372+2835A>T (n.372+2835A>T)
5g.149981187C>ACA361708194SLC26A2c.1594C>A (p.Leu532Ile)
c.372+2836C>A (n.372+2836C>A)
5g.149981187C=CA1590738672SLC26A2c.1594C= (p.Leu532=)
c.372+2836C= (n.372+2836C=)
5g.149981187C>GCA361708195SLC26A2c.1594C>G (p.Leu532Val)
c.372+2836C>G (n.372+2836C>G)
dbSNP gnomAD v3 gnomAD v4
5g.149981187C>TCA361708196SLC26A2c.1594C>T (p.Leu532Phe)
c.372+2836C>T (n.372+2836C>T)
dbSNP gnomAD v2 gnomAD v4
5g.149981187_149981188delCA913108428SLC26A2c.1594_1595del (p.Leu532CysfsTer29)
c.372+2836_372+2837del (n.372+2836_372+2837del)
5g.149981187_149981188delinsCTCA1590738673SLC26A2c.1594_1595delinsCT (p.Leu532=)
c.372+2836_372+2837delinsCT (n.372+2836_372+2837delinsCT)
5g.149981188T>ACA361708197SLC26A2c.1595T>A (p.Leu532His)
c.372+2837T>A (n.372+2837T>A)
5g.149981188T>CCA361708199SLC26A2c.1595T>C (p.Leu532Pro)
c.372+2837T>C (n.372+2837T>C)
5g.149981188T>GCA361708198SLC26A2c.1595T>G (p.Leu532Arg)
c.372+2837T>G (n.372+2837T>G)
dbSNP gnomAD v3 gnomAD v4
5g.149981188T=CA1590738674SLC26A2c.1595T= (p.Leu532=)
c.372+2837T= (n.372+2837T=)
5g.149981189delCA658823313SLC26A2c.1596del (p.Val533LeufsTer?)
c.372+2838del (n.372+2838del)
ClinVar dbSNP
5g.149981189T>ACA447402743SLC26A2c.1596T>A (p.Leu532=)
c.372+2838T>A (n.372+2838T>A)
5g.149981189T>CCA447402746SLC26A2c.1596T>C (p.Leu532=)
c.372+2838T>C (n.372+2838T>C)
5g.149981189T>GCA447402744SLC26A2c.1596T>G (p.Leu532=)
c.372+2838T>G (n.372+2838T>G)
5g.149981190G>ACA361708200SLC26A2c.1597G>A (p.Val533Ile)
c.372+2839G>A (n.372+2839G>A)
dbSNP gnomAD v3 gnomAD v4
5g.149981190G>CCA361708201SLC26A2c.1597G>C (p.Val533Leu)
c.372+2839G>C (n.372+2839G>C)
gnomAD v4
5g.149981190G=CA1590738675SLC26A2c.1597G= (p.Val533=)
c.372+2839G= (n.372+2839G=)
5g.149981190G>TCA361708202SLC26A2c.1597G>T (p.Val533Phe)
c.372+2839G>T (n.372+2839G>T)
gnomAD v4
5g.149981191T>ACA361708203SLC26A2c.1598T>A (p.Val533Asp)
c.372+2840T>A (n.372+2840T>A)
5g.149981191T>CCA361708204SLC26A2c.1598T>C (p.Val533Ala)
c.372+2840T>C (n.372+2840T>C)
5g.149981191T>GCA361708205SLC26A2c.1598T>G (p.Val533Gly)
c.372+2840T>G (n.372+2840T>G)
5g.149981192T>ACA447402749SLC26A2c.1599T>A (p.Val533=)
c.372+2841T>A (n.372+2841T>A)
5g.149981192T>CCA447402750SLC26A2c.1599T>C (p.Val533=)
c.372+2841T>C (n.372+2841T>C)
5g.149981192T>GCA447402751SLC26A2c.1599T>G (p.Val533=)
c.372+2841T>G (n.372+2841T>G)
5g.149981193G>ACA3505463SLC26A2c.1600G>A (p.Gly534Arg)
c.372+2842G>A (n.372+2842G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.149981193G>CCA361708206SLC26A2c.1600G>C (p.Gly534Arg)
c.372+2842G>C (n.372+2842G>C)
5g.149981193G=CA1590738676SLC26A2c.1600G= (p.Gly534=)
c.372+2842G= (n.372+2842G=)
5g.149981193G>TCA361708207SLC26A2c.1600G>T (p.Gly534Trp)
c.372+2842G>T (n.372+2842G>T)
gnomAD v4
5g.149981194G>ACA361708208SLC26A2c.1601G>A (p.Gly534Glu)
c.372+2843G>A (n.372+2843G>A)
5g.149981194G>CCA361708209SLC26A2c.1601G>C (p.Gly534Ala)
c.372+2843G>C (n.372+2843G>C)
gnomAD v4
5g.149981194G>TCA361708210SLC26A2c.1601G>T (p.Gly534Val)
c.372+2843G>T (n.372+2843G>T)
gnomAD v4
5g.149981195_149981196insAAGATCCCTAAATTTACGAAGGCA2547468802SLC26A2c.1602_1603insAAGATCCCTAAATTTACGAAGG (p.Val535LysfsTer34)
c.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG (n.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG)
5g.149981195G>ACA447402752SLC26A2c.1602G>A (p.Gly534=)
c.372+2844G>A (n.372+2844G>A)
5g.149981195G>CCA447402753SLC26A2c.1602G>C (p.Gly534=)
c.372+2844G>C (n.372+2844G>C)
5g.149981195G>TCA447402754SLC26A2c.1602G>T (p.Gly534=)
c.372+2844G>T (n.372+2844G>T)
5g.149981195_149981199delinsGGTTTCA1590738677SLC26A2c.1602_1606delinsGGTTT (p.Gly534=)
c.372+2844_372+2848delinsGGTTT (n.372+2844_372+2848delinsGGTTT)
5g.149981196_149981200delCA913108429SLC26A2c.1603_1607del (p.Val535PhefsTer25)
c.372+2845_372+2849del (n.372+2845_372+2849del)
5g.149981196G>ACA361708213SLC26A2c.1603G>A (p.Val535Ile)
c.372+2845G>A (n.372+2845G>A)
5g.149981196G>CCA361708211SLC26A2c.1603G>C (p.Val535Leu)
c.372+2845G>C (n.372+2845G>C)
5g.149981196G>TCA361708212SLC26A2c.1603G>T (p.Val535Phe)
c.372+2845G>T (n.372+2845G>T)
5g.149981200_149981203delCA3505464SLC26A2c.1607_1610del (p.Cys536PhefsTer?)
c.372+2849_372+2852del (n.372+2849_372+2852del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149981197T>ACA361708216SLC26A2c.1604T>A (p.Val535Asp)
c.372+2846T>A (n.372+2846T>A)
5g.149981197T>CCA361708214SLC26A2c.1604T>C (p.Val535Ala)
c.372+2846T>C (n.372+2846T>C)
dbSNP
5g.149981197T>GCA361708215SLC26A2c.1604T>G (p.Val535Gly)
c.372+2846T>G (n.372+2846T>G)
5g.149981197T=CA1590738678SLC26A2c.1604T= (p.Val535=)
c.372+2846T= (n.372+2846T=)
5g.149981198T>ACA447402757SLC26A2c.1605T>A (p.Val535=)
c.372+2847T>A (n.372+2847T>A)
5g.149981198T>CCA447402756SLC26A2c.1605T>C (p.Val535=)
c.372+2847T>C (n.372+2847T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149981198T>GCA447402755SLC26A2c.1605T>G (p.Val535=)
c.372+2847T>G (n.372+2847T>G)
5g.149981198T=CA1590738679SLC26A2c.1605T= (p.Val535=)
c.372+2847T= (n.372+2847T=)
5g.149981199T>ACA361708217SLC26A2c.1606T>A (p.Cys536Ser)
c.372+2848T>A (n.372+2848T>A)
5g.149981199T>CCA361708218SLC26A2c.1606T>C (p.Cys536Arg)
c.372+2848T>C (n.372+2848T>C)
5g.149981199T>GCA361708219SLC26A2c.1606T>G (p.Cys536Gly)
c.372+2848T>G (n.372+2848T>G)
5g.149981200G>ACA361708220SLC26A2c.1607G>A (p.Cys536Tyr)
c.372+2849G>A (n.372+2849G>A)
dbSNP
5g.149981200G>CCA361708221SLC26A2c.1607G>C (p.Cys536Ser)
c.372+2849G>C (n.372+2849G>C)
5g.149981200G>TCA361708222SLC26A2c.1607G>T (p.Cys536Phe)
c.372+2849G>T (n.372+2849G>T)
5g.149981200_149981201delinsGTCA1590738680SLC26A2c.1607_1608delinsGT (p.Cys536=)
c.372+2849_372+2850delinsGT (n.372+2849_372+2850delinsGT)
5g.149981201T>ACA361708223SLC26A2c.1608T>A (p.Cys536Ter)
c.372+2850T>A (n.372+2850T>A)
5g.149981201T>CCA447402759SLC26A2c.1608T>C (p.Cys536=)
c.372+2850T>C (n.372+2850T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149981201T>GCA361708224SLC26A2c.1608T>G (p.Cys536Trp)
c.372+2850T>G (n.372+2850T>G)
5g.149981201T=CA1590738682SLC26A2c.1608T= (p.Cys536=)
c.372+2850T= (n.372+2850T=)
5g.149981205delCA1590738681SLC26A2c.1612del (p.Ser538LeufsTer?)
c.372+2854del (n.372+2854del)
dbSNP
5g.149981202T>ACA361708225SLC26A2c.1609T>A (p.Phe537Ile)
c.372+2851T>A (n.372+2851T>A)
5g.149981202T>CCA3505465SLC26A2c.1609T>C (p.Phe537Leu)
c.372+2851T>C (n.372+2851T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981202T>GCA361708226SLC26A2c.1609T>G (p.Phe537Val)
c.372+2851T>G (n.372+2851T>G)
5g.149981202T=CA1590738683SLC26A2c.1609T= (p.Phe537=)
c.372+2851T= (n.372+2851T=)
5g.149981203T>ACA361708227SLC26A2c.1610T>A (p.Phe537Tyr)
c.372+2852T>A (n.372+2852T>A)
5g.149981203T>CCA361708229SLC26A2c.1610T>C (p.Phe537Ser)
c.372+2852T>C (n.372+2852T>C)
5g.149981203T>GCA361708228SLC26A2c.1610T>G (p.Phe537Cys)
c.372+2852T>G (n.372+2852T>G)
5g.149981204T>ACA361708230SLC26A2c.1611T>A (p.Phe537Leu)
c.372+2853T>A (n.372+2853T>A)
5g.149981204T>CCA447402760SLC26A2c.1611T>C (p.Phe537=)
c.372+2853T>C (n.372+2853T>C)
5g.149981204T>GCA361708231SLC26A2c.1611T>G (p.Phe537Leu)
c.372+2853T>G (n.372+2853T>G)
5g.149981205T>ACA361708232SLC26A2c.1612T>A (p.Ser538Thr)
c.372+2854T>A (n.372+2854T>A)
5g.149981205T>CCA361708233SLC26A2c.1612T>C (p.Ser538Pro)
c.372+2854T>C (n.372+2854T>C)
5g.149981205T>GCA361708234SLC26A2c.1612T>G (p.Ser538Ala)
c.372+2854T>G (n.372+2854T>G)
5g.149981206C>ACA361708235SLC26A2c.1613C>A (p.Ser538Tyr)
c.372+2855C>A (n.372+2855C>A)
5g.149981206C>GCA361708236SLC26A2c.1613C>G (p.Ser538Cys)
c.372+2855C>G (n.372+2855C>G)
5g.149981206C>TCA361708237SLC26A2c.1613C>T (p.Ser538Phe)
c.372+2855C>T (n.372+2855C>T)
5g.149981207T>ACA447402766SLC26A2c.1614T>A (p.Ser538=)
c.372+2856T>A (n.372+2856T>A)
dbSNP gnomAD v3 gnomAD v4
5g.149981207T>CCA447402768SLC26A2c.1614T>C (p.Ser538=)
c.372+2856T>C (n.372+2856T>C)
5g.149981207T>GCA447402769SLC26A2c.1614T>G (p.Ser538=)
c.372+2856T>G (n.372+2856T>G)
5g.149981207T=CA1590738684SLC26A2c.1614T= (p.Ser538=)
c.372+2856T= (n.372+2856T=)
5g.149981208A=CA1590738685SLC26A2c.1615A= (p.Ile539=)
c.372+2857A= (n.372+2857A=)
5g.149981208A>CCA361708238SLC26A2c.1615A>C (p.Ile539Leu)
c.372+2857A>C (n.372+2857A>C)
gnomAD v4
5g.149981208A>GCA361708239SLC26A2c.1615A>G (p.Ile539Val)
c.372+2857A>G (n.372+2857A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.149981208A>TCA361708240SLC26A2c.1615A>T (p.Ile539Leu)
c.372+2857A>T (n.372+2857A>T)
5g.149981209T>ACA361708243SLC26A2c.1616T>A (p.Ile539Lys)
c.372+2858T>A (n.372+2858T>A)
ClinVar gnomAD v4
5g.149981209T>CCA361708242SLC26A2c.1616T>C (p.Ile539Thr)
c.372+2858T>C (n.372+2858T>C)
dbSNP gnomAD v3 gnomAD v4
5g.149981209T>GCA361708241SLC26A2c.1616T>G (p.Ile539Arg)
c.372+2858T>G (n.372+2858T>G)
5g.149981209T=CA1590738686SLC26A2c.1616T= (p.Ile539=)
c.372+2858T= (n.372+2858T=)
5g.149981210A>CCA447402771SLC26A2c.1617A>C (p.Ile539=)
c.372+2859A>C (n.372+2859A>C)
5g.149981210A>GCA361708244SLC26A2c.1617A>G (p.Ile539Met)
c.372+2859A>G (n.372+2859A>G)
dbSNP
5g.149981210A>TCA447402772SLC26A2c.1617A>T (p.Ile539=)
c.372+2859A>T (n.372+2859A>T)
5g.149981211T>ACA361708247SLC26A2c.1618T>A (p.Phe540Ile)
c.372+2860T>A (n.372+2860T>A)
5g.149981211T>CCA361708245SLC26A2c.1618T>C (p.Phe540Leu)
c.372+2860T>C (n.372+2860T>C)
gnomAD v4
5g.149981211T>GCA361708246SLC26A2c.1618T>G (p.Phe540Val)
c.372+2860T>G (n.372+2860T>G)
5g.149981212T>ACA361708248SLC26A2c.1619T>A (p.Phe540Tyr)
c.372+2861T>A (n.372+2861T>A)
5g.149981212T>CCA361708249SLC26A2c.1619T>C (p.Phe540Ser)
c.372+2861T>C (n.372+2861T>C)
5g.149981212T>GCA361708250SLC26A2c.1619T>G (p.Phe540Cys)
c.372+2861T>G (n.372+2861T>G)
5g.149981213T>ACA361708251SLC26A2c.1620T>A (p.Phe540Leu)
c.372+2862T>A (n.372+2862T>A)
5g.149981213T>CCA447402774SLC26A2c.1620T>C (p.Phe540=)
c.372+2862T>C (n.372+2862T>C)
5g.149981213T>GCA3505466SLC26A2c.1620T>G (p.Phe540Leu)
c.372+2862T>G (n.372+2862T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149981213T=CA1590738687SLC26A2c.1620T= (p.Phe540=)
c.372+2862T= (n.372+2862T=)
5g.149981214T>ACA361708252SLC26A2c.1621T>A (p.Cys541Ser)
c.372+2863T>A (n.372+2863T>A)
5g.149981214T>CCA361708253SLC26A2c.1621T>C (p.Cys541Arg)
c.372+2863T>C (n.372+2863T>C)
5g.149981214T>GCA361708254SLC26A2c.1621T>G (p.Cys541Gly)
c.372+2863T>G (n.372+2863T>G)
5g.149981215G>ACA361708255SLC26A2c.1622G>A (p.Cys541Tyr)
c.372+2864G>A (n.372+2864G>A)
5g.149981215G>CCA361708256SLC26A2c.1622G>C (p.Cys541Ser)
c.372+2864G>C (n.372+2864G>C)
5g.149981215G>TCA361708257SLC26A2c.1622G>T (p.Cys541Phe)
c.372+2864G>T (n.372+2864G>T)
5g.149981216T>ACA361708259SLC26A2c.1623T>A (p.Cys541Ter)
c.372+2865T>A (n.372+2865T>A)
5g.149981216T>CCA447402777SLC26A2c.1623T>C (p.Cys541=)
c.372+2865T>C (n.372+2865T>C)
5g.149981216T>GCA361708258SLC26A2c.1623T>G (p.Cys541Trp)
c.372+2865T>G (n.372+2865T>G)
5g.149981217G>ACA361708260SLC26A2c.1624G>A (p.Val542Ile)
c.372+2866G>A (n.372+2866G>A)
5g.149981217G>CCA361708261SLC26A2c.1624G>C (p.Val542Leu)
c.372+2866G>C (n.372+2866G>C)
5g.149981217G>TCA361708262SLC26A2c.1624G>T (p.Val542Phe)
c.372+2866G>T (n.372+2866G>T)
5g.149981217_149981243delinsGTCATCCTCCGCACTCAGAAGCCAAAGCA1590738688SLC26A2c.1624_1650delinsGTCATCCTCCGCACTCAGAAGCCAAAG (p.Val542=)
c.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG (n.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG)

Number of alleles fetched