Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched