| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981337C>A | CA361708689 | SLC26A2 | c.1744C>A (p.Arg582Ser) c.372+2986C>A (n.372+2986C>A) | |
| 5 | g.149981337C= | CA1590738735 | SLC26A2 | c.1744C= (p.Arg582=) c.372+2986C= (n.372+2986C=) | |
| 5 | g.149981337C>G | CA361708688 | SLC26A2 | c.1744C>G (p.Arg582Gly) c.372+2986C>G (n.372+2986C>G) | |
| 5 | g.149981337C>T | CA3505483 | SLC26A2 | c.1744C>T (p.Arg582Cys) c.372+2986C>T (n.372+2986C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981338G>A | CA3505484 | SLC26A2 | c.1745G>A (p.Arg582His) c.372+2987G>A (n.372+2987G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981338G>C | CA361708690 | SLC26A2 | c.1745G>C (p.Arg582Pro) c.372+2987G>C (n.372+2987G>C) | |
| 5 | g.149981338G= | CA1590738736 | SLC26A2 | c.1745G= (p.Arg582=) c.372+2987G= (n.372+2987G=) | |
| 5 | g.149981338G>T | CA129084606 | SLC26A2 | c.1745G>T (p.Arg582Leu) c.372+2987G>T (n.372+2987G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981339C>A | CA447402907 | SLC26A2 | c.1746C>A (p.Arg582=) c.372+2988C>A (n.372+2988C>A) | |
| 5 | g.149981339C= | CA1590738737 | SLC26A2 | c.1746C= (p.Arg582=) c.372+2988C= (n.372+2988C=) | |
| 5 | g.149981339C>G | CA447402908 | SLC26A2 | c.1746C>G (p.Arg582=) c.372+2988C>G (n.372+2988C>G) | |
| 5 | g.149981339C>T | CA447402909 | SLC26A2 | c.1746C>T (p.Arg582=) c.372+2988C>T (n.372+2988C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981340T>A | CA361708691 | SLC26A2 | c.1747T>A (p.Phe583Ile) c.372+2989T>A (n.372+2989T>A) | |
| 5 | g.149981340T>C | CA361708692 | SLC26A2 | c.1747T>C (p.Phe583Leu) c.372+2989T>C (n.372+2989T>C) | |
| 5 | g.149981340T>G | CA361708693 | SLC26A2 | c.1747T>G (p.Phe583Val) c.372+2989T>G (n.372+2989T>G) | |
| 5 | g.149981341T>A | CA361708696 | SLC26A2 | c.1748T>A (p.Phe583Tyr) c.372+2990T>A (n.372+2990T>A) | |
| 5 | g.149981341T>C | CA361708695 | SLC26A2 | c.1748T>C (p.Phe583Ser) c.372+2990T>C (n.372+2990T>C) | |
| 5 | g.149981341T>G | CA361708694 | SLC26A2 | c.1748T>G (p.Phe583Cys) c.372+2990T>G (n.372+2990T>G) | gnomAD v4 |
| 5 | g.149981342T>A | CA361708697 | SLC26A2 | c.1749T>A (p.Phe583Leu) c.372+2991T>A (n.372+2991T>A) | gnomAD v4 |
| 5 | g.149981342T>C | CA447402910 | SLC26A2 | c.1749T>C (p.Phe583=) c.372+2991T>C (n.372+2991T>C) | |
| 5 | g.149981342T>G | CA361708698 | SLC26A2 | c.1749T>G (p.Phe583Leu) c.372+2991T>G (n.372+2991T>G) | |
| 5 | g.149981343G>A | CA361708699 | SLC26A2 | c.1750G>A (p.Val584Ile) c.372+2992G>A (n.372+2992G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981343G>C | CA361708701 | SLC26A2 | c.1750G>C (p.Val584Leu) c.372+2992G>C (n.372+2992G>C) | dbSNP |
| 5 | g.149981343G= | CA1590738738 | SLC26A2 | c.1750G= (p.Val584=) c.372+2992G= (n.372+2992G=) | |
| 5 | g.149981343G>T | CA361708700 | SLC26A2 | c.1750G>T (p.Val584Leu) c.372+2992G>T (n.372+2992G>T) | |
| 5 | g.149981344T>A | CA361708702 | SLC26A2 | c.1751T>A (p.Val584Glu) c.372+2993T>A (n.372+2993T>A) | |
| 5 | g.149981344T>C | CA361708703 | SLC26A2 | c.1751T>C (p.Val584Ala) c.372+2993T>C (n.372+2993T>C) | gnomAD v4 |
| 5 | g.149981344T>G | CA361708704 | SLC26A2 | c.1751T>G (p.Val584Gly) c.372+2993T>G (n.372+2993T>G) | |
| 5 | g.149981345A= | CA1590738739 | SLC26A2 | c.1752A= (p.Val584=) c.372+2994A= (n.372+2994A=) | |
| 5 | g.149981345A>C | CA447402911 | SLC26A2 | c.1752A>C (p.Val584=) c.372+2994A>C (n.372+2994A>C) | |
| 5 | g.149981345A>G | CA447402912 | SLC26A2 | c.1752A>G (p.Val584=) c.372+2994A>G (n.372+2994A>G) | dbSNP |
| 5 | g.149981345A>T | CA447402913 | SLC26A2 | c.1752A>T (p.Val584=) c.372+2994A>T (n.372+2994A>T) | |
| 5 | g.149981346G>A | CA361708705 | SLC26A2 | c.1753G>A (p.Ala585Thr) c.372+2995G>A (n.372+2995G>A) | dbSNP gnomAD v4 |
| 5 | g.149981346G>C | CA361708706 | SLC26A2 | c.1753G>C (p.Ala585Pro) c.372+2995G>C (n.372+2995G>C) | |
| 5 | g.149981346G= | CA1590738740 | SLC26A2 | c.1753G= (p.Ala585=) c.372+2995G= (n.372+2995G=) | |
| 5 | g.149981346G>T | CA129084609 | SLC26A2 | c.1753G>T (p.Ala585Ser) c.372+2995G>T (n.372+2995G>T) | dbSNP gnomAD v4 |
| 5 | g.149981347C>A | CA361708707 | SLC26A2 | c.1754C>A (p.Ala585Asp) c.372+2996C>A (n.372+2996C>A) | |
| 5 | g.149981347C>G | CA361708708 | SLC26A2 | c.1754C>G (p.Ala585Gly) c.372+2996C>G (n.372+2996C>G) | |
| 5 | g.149981347C>T | CA361708709 | SLC26A2 | c.1754C>T (p.Ala585Val) c.372+2996C>T (n.372+2996C>T) | |
| 5 | g.149981350del | CA645548303 | SLC26A2 | c.1757del (p.Pro586LeufsTer5) c.372+2999del (n.372+2999del) | COSMIC |
| 5 | g.149981348C>A | CA447402914 | SLC26A2 | c.1755C>A (p.Ala585=) c.372+2997C>A (n.372+2997C>A) | |
| 5 | g.149981348C>G | CA447402915 | SLC26A2 | c.1755C>G (p.Ala585=) c.372+2997C>G (n.372+2997C>G) | |
| 5 | g.149981348C>T | CA447402916 | SLC26A2 | c.1755C>T (p.Ala585=) c.372+2997C>T (n.372+2997C>T) | gnomAD v4 |
| 5 | g.149981349C>A | CA361708712 | SLC26A2 | c.1756C>A (p.Pro586Thr) c.372+2998C>A (n.372+2998C>A) | |
| 5 | g.149981349C>G | CA361708711 | SLC26A2 | c.1756C>G (p.Pro586Ala) c.372+2998C>G (n.372+2998C>G) | |
| 5 | g.149981349C>T | CA361708710 | SLC26A2 | c.1756C>T (p.Pro586Ser) c.372+2998C>T (n.372+2998C>T) | gnomAD v4 |
| 5 | g.149981350C>A | CA361708713 | SLC26A2 | c.1757C>A (p.Pro586His) c.372+2999C>A (n.372+2999C>A) | |
| 5 | g.149981350C>G | CA361708714 | SLC26A2 | c.1757C>G (p.Pro586Arg) c.372+2999C>G (n.372+2999C>G) | |
| 5 | g.149981350C>T | CA361708715 | SLC26A2 | c.1757C>T (p.Pro586Leu) c.372+2999C>T (n.372+2999C>T) | |
| 5 | g.149981351T>A | CA447402917 | SLC26A2 | c.1758T>A (p.Pro586=) c.372+3000T>A (n.372+3000T>A) | |
| 5 | g.149981351T>C | CA447402919 | SLC26A2 | c.1758T>C (p.Pro586=) c.372+3000T>C (n.372+3000T>C) | dbSNP |
| 5 | g.149981351T>G | CA447402918 | SLC26A2 | c.1758T>G (p.Pro586=) c.372+3000T>G (n.372+3000T>G) | |
| 5 | g.149981351T= | CA1590738741 | SLC26A2 | c.1758T= (p.Pro586=) c.372+3000T= (n.372+3000T=) | |
| 5 | g.149981352C>A | CA361708716 | SLC26A2 | c.1759C>A (p.Leu587Ile) c.372+3001C>A (n.372+3001C>A) | |
| 5 | g.149981352C>G | CA361708717 | SLC26A2 | c.1759C>G (p.Leu587Val) c.372+3001C>G (n.372+3001C>G) | |
| 5 | g.149981352C>T | CA361708718 | SLC26A2 | c.1759C>T (p.Leu587Phe) c.372+3001C>T (n.372+3001C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981353T>A | CA361708719 | SLC26A2 | c.1760T>A (p.Leu587His) c.372+3002T>A (n.372+3002T>A) | |
| 5 | g.149981353T>C | CA361708720 | SLC26A2 | c.1760T>C (p.Leu587Pro) c.372+3002T>C (n.372+3002T>C) | |
| 5 | g.149981353T>G | CA361708721 | SLC26A2 | c.1760T>G (p.Leu587Arg) c.372+3002T>G (n.372+3002T>G) | |
| 5 | g.149981354C>A | CA447402920 | SLC26A2 | c.1761C>A (p.Leu587=) c.372+3003C>A (n.372+3003C>A) | |
| 5 | g.149981354C= | CA1590738742 | SLC26A2 | c.1761C= (p.Leu587=) c.372+3003C= (n.372+3003C=) | |
| 5 | g.149981354C>G | CA3505486 | SLC26A2 | c.1761C>G (p.Leu587=) c.372+3003C>G (n.372+3003C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981354C>T | CA3505485 | SLC26A2 | c.1761C>T (p.Leu587=) c.372+3003C>T (n.372+3003C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981355T>A | CA361708723 | SLC26A2 | c.1762T>A (p.Tyr588Asn) c.372+3004T>A (n.372+3004T>A) | |
| 5 | g.149981355T>C | CA361708724 | SLC26A2 | c.1762T>C (p.Tyr588His) c.372+3004T>C (n.372+3004T>C) | |
| 5 | g.149981355T>G | CA361708722 | SLC26A2 | c.1762T>G (p.Tyr588Asp) c.372+3004T>G (n.372+3004T>G) | |
| 5 | g.149981356A>C | CA361708725 | SLC26A2 | c.1763A>C (p.Tyr588Ser) c.372+3005A>C (n.372+3005A>C) | |
| 5 | g.149981356A>G | CA361708726 | SLC26A2 | c.1763A>G (p.Tyr588Cys) c.372+3005A>G (n.372+3005A>G) | |
| 5 | g.149981356A>T | CA361708727 | SLC26A2 | c.1763A>T (p.Tyr588Phe) c.372+3005A>T (n.372+3005A>T) | |
| 5 | g.149981357C>A | CA361708728 | SLC26A2 | c.1764C>A (p.Tyr588Ter) c.372+3006C>A (n.372+3006C>A) | ClinVar dbSNP |
| 5 | g.149981357C= | CA1590738743 | SLC26A2 | c.1764C= (p.Tyr588=) c.372+3006C= (n.372+3006C=) | |
| 5 | g.149981357C>G | CA361708729 | SLC26A2 | c.1764C>G (p.Tyr588Ter) c.372+3006C>G (n.372+3006C>G) | |
| 5 | g.149981357C>T | CA447402921 | SLC26A2 | c.1764C>T (p.Tyr588=) c.372+3006C>T (n.372+3006C>T) | |
| 5 | g.149981358T>A | CA361708731 | SLC26A2 | c.1765T>A (p.Tyr589Asn) c.372+3007T>A (n.372+3007T>A) | |
| 5 | g.149981358T>C | CA129084613 | SLC26A2 | c.1765T>C (p.Tyr589His) c.372+3007T>C (n.372+3007T>C) | dbSNP gnomAD v4 |
| 5 | g.149981358T>G | CA361708730 | SLC26A2 | c.1765T>G (p.Tyr589Asp) c.372+3007T>G (n.372+3007T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981358T= | CA1590738744 | SLC26A2 | c.1765T= (p.Tyr589=) c.372+3007T= (n.372+3007T=) | |
| 5 | g.149981359A>C | CA361708732 | SLC26A2 | c.1766A>C (p.Tyr589Ser) c.372+3008A>C (n.372+3008A>C) | |
| 5 | g.149981359A>G | CA361708733 | SLC26A2 | c.1766A>G (p.Tyr589Cys) c.372+3008A>G (n.372+3008A>G) | |
| 5 | g.149981359A>T | CA361708734 | SLC26A2 | c.1766A>T (p.Tyr589Phe) c.372+3008A>T (n.372+3008A>T) | |
| 5 | g.149981360C>A | CA361708735 | SLC26A2 | c.1767C>A (p.Tyr589Ter) c.372+3009C>A (n.372+3009C>A) | ClinVar |
| 5 | g.149981360C>G | CA361708736 | SLC26A2 | c.1767C>G (p.Tyr589Ter) c.372+3009C>G (n.372+3009C>G) | |
| 5 | g.149981360C>T | CA447402742 | SLC26A2 | c.1767C>T (p.Tyr589=) c.372+3009C>T (n.372+3009C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981361A>C | CA361708737 | SLC26A2 | c.1768A>C (p.Ile590Leu) c.372+3010A>C (n.372+3010A>C) | |
| 5 | g.149981361A>G | CA361708739 | SLC26A2 | c.1768A>G (p.Ile590Val) c.372+3010A>G (n.372+3010A>G) | gnomAD v4 |
| 5 | g.149981361A>T | CA361708738 | SLC26A2 | c.1768A>T (p.Ile590Leu) c.372+3010A>T (n.372+3010A>T) | |
| 5 | g.149981362T>A | CA361708740 | SLC26A2 | c.1769T>A (p.Ile590Lys) c.372+3011T>A (n.372+3011T>A) | |
| 5 | g.149981362T>C | CA361708741 | SLC26A2 | c.1769T>C (p.Ile590Thr) c.372+3011T>C (n.372+3011T>C) | |
| 5 | g.149981362T>G | CA361708742 | SLC26A2 | c.1769T>G (p.Ile590Arg) c.372+3011T>G (n.372+3011T>G) | |
| 5 | g.149981362_149981366delinsTAAAC | CA1590738745 | SLC26A2 | c.1769_1773delinsTAAAC (p.Ile590=) c.372+3011_372+3015delinsTAAAC (n.372+3011_372+3015delinsTAAAC) | |
| 5 | g.149981363A>C | CA447402745 | SLC26A2 | c.1770A>C (p.Ile590=) c.372+3012A>C (n.372+3012A>C) | |
| 5 | g.149981363A>G | CA361708743 | SLC26A2 | c.1770A>G (p.Ile590Met) c.372+3012A>G (n.372+3012A>G) | |
| 5 | g.149981363A>T | CA447402747 | SLC26A2 | c.1770A>T (p.Ile590=) c.372+3012A>T (n.372+3012A>T) | gnomAD v4 |
| 5 | g.149981365del | CA2573139281 | SLC26A2 | c.1772del (p.Asn591ThrfsTer18) c.372+3014del (n.372+3014del) | ClinVar dbSNP |
| 5 | g.149981366_149981369del | CA1590738746 | SLC26A2 | c.1773_1776del (p.Asn591LysfsTer17) c.372+3015_372+3018del (n.372+3015_372+3018del) | ClinVar dbSNP |
| 5 | g.149981364A>C | CA361708744 | SLC26A2 | c.1771A>C (p.Asn591His) c.372+3013A>C (n.372+3013A>C) | |
| 5 | g.149981364A>G | CA361708745 | SLC26A2 | c.1771A>G (p.Asn591Asp) c.372+3013A>G (n.372+3013A>G) | |
| 5 | g.149981364A>T | CA361708746 | SLC26A2 | c.1771A>T (p.Asn591Tyr) c.372+3013A>T (n.372+3013A>T) | |
| 5 | g.149981365A>C | CA361708747 | SLC26A2 | c.1772A>C (p.Asn591Thr) c.372+3014A>C (n.372+3014A>C) | |
| 5 | g.149981365A>G | CA361708748 | SLC26A2 | c.1772A>G (p.Asn591Ser) c.372+3014A>G (n.372+3014A>G) | |
| 5 | g.149981365A>T | CA361708749 | SLC26A2 | c.1772A>T (p.Asn591Ile) c.372+3014A>T (n.372+3014A>T) | |
| 5 | g.149981366C>A | CA361708750 | SLC26A2 | c.1773C>A (p.Asn591Lys) c.372+3015C>A (n.372+3015C>A) | |
| 5 | g.149981366C>G | CA361708751 | SLC26A2 | c.1773C>G (p.Asn591Lys) c.372+3015C>G (n.372+3015C>G) | |
| 5 | g.149981366C>T | CA447402748 | SLC26A2 | c.1773C>T (p.Asn591=) c.372+3015C>T (n.372+3015C>T) | ClinVar dbSNP |
| 5 | g.149981367A>C | CA361708753 | SLC26A2 | c.1774A>C (p.Lys592Gln) c.372+3016A>C (n.372+3016A>C) | |
| 5 | g.149981367A>G | CA361708754 | SLC26A2 | c.1774A>G (p.Lys592Glu) c.372+3016A>G (n.372+3016A>G) | |
| 5 | g.149981367A>T | CA361708752 | SLC26A2 | c.1774A>T (p.Lys592Ter) c.372+3016A>T (n.372+3016A>T) | |
| 5 | g.149981368A>C | CA361708757 | SLC26A2 | c.1775A>C (p.Lys592Thr) c.372+3017A>C (n.372+3017A>C) | |
| 5 | g.149981368A>G | CA361708755 | SLC26A2 | c.1775A>G (p.Lys592Arg) c.372+3017A>G (n.372+3017A>G) | gnomAD v4 |
| 5 | g.149981368A>T | CA361708756 | SLC26A2 | c.1775A>T (p.Lys592Ile) c.372+3017A>T (n.372+3017A>T) | |
| 5 | g.149981369A= | CA1590738747 | SLC26A2 | c.1776A= (p.Lys592=) c.372+3018A= (n.372+3018A=) | |
| 5 | g.149981369A>C | CA361708758 | SLC26A2 | c.1776A>C (p.Lys592Asn) c.372+3018A>C (n.372+3018A>C) | |
| 5 | g.149981369A>G | CA3505487 | SLC26A2 | c.1776A>G (p.Lys592=) c.372+3018A>G (n.372+3018A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981369A>T | CA361708759 | SLC26A2 | c.1776A>T (p.Lys592Asn) c.372+3018A>T (n.372+3018A>T) | |
| 5 | g.149981370G>A | CA129084634 | SLC26A2 | c.1777G>A (p.Glu593Lys) c.372+3019G>A (n.372+3019G>A) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149981370G>C | CA361708761 | SLC26A2 | c.1777G>C (p.Glu593Gln) c.372+3019G>C (n.372+3019G>C) | dbSNP gnomAD v4 |
| 5 | g.149981370G= | CA1590738748 | SLC26A2 | c.1777G= (p.Glu593=) c.372+3019G= (n.372+3019G=) | |
| 5 | g.149981370G>T | CA361708760 | SLC26A2 | c.1777G>T (p.Glu593Ter) c.372+3019G>T (n.372+3019G>T) | ClinVar dbSNP COSMIC |
| 5 | g.149981371A>C | CA361708762 | SLC26A2 | c.1778A>C (p.Glu593Ala) c.372+3020A>C (n.372+3020A>C) | |
| 5 | g.149981371A>G | CA361708763 | SLC26A2 | c.1778A>G (p.Glu593Gly) c.372+3020A>G (n.372+3020A>G) | |
| 5 | g.149981371A>T | CA361708764 | SLC26A2 | c.1778A>T (p.Glu593Val) c.372+3020A>T (n.372+3020A>T) | |
| 5 | g.149981372A= | CA1590738749 | SLC26A2 | c.1779A= (p.Glu593=) c.372+3021A= (n.372+3021A=) | |
| 5 | g.149981372A>C | CA361708765 | SLC26A2 | c.1779A>C (p.Glu593Asp) c.372+3021A>C (n.372+3021A>C) | |
| 5 | g.149981372A>G | CA3505488 | SLC26A2 | c.1779A>G (p.Glu593=) c.372+3021A>G (n.372+3021A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981372A>T | CA361708766 | SLC26A2 | c.1779A>T (p.Glu593Asp) c.372+3021A>T (n.372+3021A>T) | |
| 5 | g.149981373T>A | CA361708767 | SLC26A2 | c.1780T>A (p.Cys594Ser) c.372+3022T>A (n.372+3022T>A) | |
| 5 | g.149981373T>C | CA361708769 | SLC26A2 | c.1780T>C (p.Cys594Arg) c.372+3022T>C (n.372+3022T>C) | |
| 5 | g.149981373T>G | CA361708768 | SLC26A2 | c.1780T>G (p.Cys594Gly) c.372+3022T>G (n.372+3022T>G) | |
| 5 | g.149981374G>A | CA361708770 | SLC26A2 | c.1781G>A (p.Cys594Tyr) c.372+3023G>A (n.372+3023G>A) | |
| 5 | g.149981374G>C | CA361708771 | SLC26A2 | c.1781G>C (p.Cys594Ser) c.372+3023G>C (n.372+3023G>C) | |
| 5 | g.149981374G>T | CA361708772 | SLC26A2 | c.1781G>T (p.Cys594Phe) c.372+3023G>T (n.372+3023G>T) | |
| 5 | g.149981375C>A | CA361708773 | SLC26A2 | c.1782C>A (p.Cys594Ter) c.372+3024C>A (n.372+3024C>A) | |
| 5 | g.149981375C= | CA1590738750 | SLC26A2 | c.1782C= (p.Cys594=) c.372+3024C= (n.372+3024C=) | |
| 5 | g.149981375C>G | CA361708774 | SLC26A2 | c.1782C>G (p.Cys594Trp) c.372+3024C>G (n.372+3024C>G) | |
| 5 | g.149981375C>T | CA3505489 | SLC26A2 | c.1782C>T (p.Cys594=) c.372+3024C>T (n.372+3024C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981376T>A | CA361708775 | SLC26A2 | c.1783T>A (p.Phe595Ile) c.372+3025T>A (n.372+3025T>A) | |
| 5 | g.149981376T>C | CA361708776 | SLC26A2 | c.1783T>C (p.Phe595Leu) c.372+3025T>C (n.372+3025T>C) | |
| 5 | g.149981376T>G | CA361708777 | SLC26A2 | c.1783T>G (p.Phe595Val) c.372+3025T>G (n.372+3025T>G) | |
| 5 | g.149981377T>A | CA361708778 | SLC26A2 | c.1784T>A (p.Phe595Tyr) c.372+3026T>A (n.372+3026T>A) | |
| 5 | g.149981377T>C | CA361708779 | SLC26A2 | c.1784T>C (p.Phe595Ser) c.372+3026T>C (n.372+3026T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981377T>G | CA361708780 | SLC26A2 | c.1784T>G (p.Phe595Cys) c.372+3026T>G (n.372+3026T>G) | |
| 5 | g.149981377T= | CA1590738751 | SLC26A2 | c.1784T= (p.Phe595=) c.372+3026T= (n.372+3026T=) | |
| 5 | g.149981378T>A | CA361708781 | SLC26A2 | c.1785T>A (p.Phe595Leu) c.372+3027T>A (n.372+3027T>A) | |
| 5 | g.149981378T>C | CA447402758 | SLC26A2 | c.1785T>C (p.Phe595=) c.372+3027T>C (n.372+3027T>C) | ClinVar gnomAD v4 |
| 5 | g.149981378T>G | CA361708782 | SLC26A2 | c.1785T>G (p.Phe595Leu) c.372+3027T>G (n.372+3027T>G) | |
| 5 | g.149981379A= | CA1590738752 | SLC26A2 | c.1786A= (p.Lys596=) c.372+3028A= (n.372+3028A=) | |
| 5 | g.149981379A>C | CA361708783 | SLC26A2 | c.1786A>C (p.Lys596Gln) c.372+3028A>C (n.372+3028A>C) | |
| 5 | g.149981379A>G | CA361708784 | SLC26A2 | c.1786A>G (p.Lys596Glu) c.372+3028A>G (n.372+3028A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981379A>T | CA361708785 | SLC26A2 | c.1786A>T (p.Lys596Ter) c.372+3028A>T (n.372+3028A>T) | |
| 5 | g.149981380A>C | CA361708786 | SLC26A2 | c.1787A>C (p.Lys596Thr) c.372+3029A>C (n.372+3029A>C) | |
| 5 | g.149981380A>G | CA361708787 | SLC26A2 | c.1787A>G (p.Lys596Arg) c.372+3029A>G (n.372+3029A>G) | |
| 5 | g.149981380A>T | CA361708788 | SLC26A2 | c.1787A>T (p.Lys596Ile) c.372+3029A>T (n.372+3029A>T) | |
| 5 | g.149981381A= | CA1590738753 | SLC26A2 | c.1788A= (p.Lys596=) c.372+3030A= (n.372+3030A=) | |
| 5 | g.149981381A>C | CA129084636 | SLC26A2 | c.1788A>C (p.Lys596Asn) c.372+3030A>C (n.372+3030A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981381A>G | CA3505490 | SLC26A2 | c.1788A>G (p.Lys596=) c.372+3030A>G (n.372+3030A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981381A>T | CA361708789 | SLC26A2 | c.1788A>T (p.Lys596Asn) c.372+3030A>T (n.372+3030A>T) | |
| 5 | g.149981382T>A | CA361708790 | SLC26A2 | c.1789T>A (p.Ser597Thr) c.372+3031T>A (n.372+3031T>A) | |
| 5 | g.149981382T>C | CA361708791 | SLC26A2 | c.1789T>C (p.Ser597Pro) c.372+3031T>C (n.372+3031T>C) | |
| 5 | g.149981382T>G | CA361708792 | SLC26A2 | c.1789T>G (p.Ser597Ala) c.372+3031T>G (n.372+3031T>G) | |
| 5 | g.149981383C>A | CA361708795 | SLC26A2 | c.1790C>A (p.Ser597Tyr) c.372+3032C>A (n.372+3032C>A) | gnomAD v4 |
| 5 | g.149981383C>G | CA361708797 | SLC26A2 | c.1790C>G (p.Ser597Cys) c.372+3032C>G (n.372+3032C>G) | |
| 5 | g.149981383C>T | CA361708793 | SLC26A2 | c.1790C>T (p.Ser597Phe) c.372+3032C>T (n.372+3032C>T) | |
| 5 | g.149981384T>A | CA447402761 | SLC26A2 | c.1791T>A (p.Ser597=) c.372+3033T>A (n.372+3033T>A) | |
| 5 | g.149981384T>C | CA447402762 | SLC26A2 | c.1791T>C (p.Ser597=) c.372+3033T>C (n.372+3033T>C) | |
| 5 | g.149981384T>G | CA447402763 | SLC26A2 | c.1791T>G (p.Ser597=) c.372+3033T>G (n.372+3033T>G) | |
| 5 | g.149981385G>A | CA361708799 | SLC26A2 | c.1792G>A (p.Ala598Thr) c.372+3034G>A (n.372+3034G>A) | |
| 5 | g.149981385G>C | CA361708801 | SLC26A2 | c.1792G>C (p.Ala598Pro) c.372+3034G>C (n.372+3034G>C) | |
| 5 | g.149981385G>T | CA361708803 | SLC26A2 | c.1792G>T (p.Ala598Ser) c.372+3034G>T (n.372+3034G>T) | |
| 5 | g.149981386C>A | CA361708805 | SLC26A2 | c.1793C>A (p.Ala598Asp) c.372+3035C>A (n.372+3035C>A) | |
| 5 | g.149981386C>G | CA361708807 | SLC26A2 | c.1793C>G (p.Ala598Gly) c.372+3035C>G (n.372+3035C>G) | |
| 5 | g.149981386C>T | CA361708809 | SLC26A2 | c.1793C>T (p.Ala598Val) c.372+3035C>T (n.372+3035C>T) | |
| 5 | g.149981387T>A | CA447402767 | SLC26A2 | c.1794T>A (p.Ala598=) c.372+3036T>A (n.372+3036T>A) | |
| 5 | g.149981387T>C | CA447402765 | SLC26A2 | c.1794T>C (p.Ala598=) c.372+3036T>C (n.372+3036T>C) | |
| 5 | g.149981387T>G | CA447402764 | SLC26A2 | c.1794T>G (p.Ala598=) c.372+3036T>G (n.372+3036T>G) | |
| 5 | g.149981388T>A | CA361708811 | SLC26A2 | c.1795T>A (p.Leu599Ile) c.372+3037T>A (n.372+3037T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981388T>C | CA447402770 | SLC26A2 | c.1795T>C (p.Leu599=) c.372+3037T>C (n.372+3037T>C) | |
| 5 | g.149981388T>G | CA361708812 | SLC26A2 | c.1795T>G (p.Leu599Val) c.372+3037T>G (n.372+3037T>G) | |
| 5 | g.149981388T= | CA1590738754 | SLC26A2 | c.1795T= (p.Leu599=) c.372+3037T= (n.372+3037T=) | |
| 5 | g.149981389T>A | CA361708815 | SLC26A2 | c.1796T>A (p.Leu599Ter) c.372+3038T>A (n.372+3038T>A) | ClinVar |
| 5 | g.149981389T>C | CA361708816 | SLC26A2 | c.1796T>C (p.Leu599Ser) c.372+3038T>C (n.372+3038T>C) | |
| 5 | g.149981389T>G | CA361708818 | SLC26A2 | c.1796T>G (p.Leu599Ter) c.372+3038T>G (n.372+3038T>G) | |
| 5 | g.149981390A= | CA1590738755 | SLC26A2 | c.1797A= (p.Leu599=) c.372+3039A= (n.372+3039A=) | |
| 5 | g.149981390A>C | CA3505492 | SLC26A2 | c.1797A>C (p.Leu599Phe) c.372+3039A>C (n.372+3039A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981390A>G | CA3505491 | SLC26A2 | c.1797A>G (p.Leu599=) c.372+3039A>G (n.372+3039A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981390A>T | CA361708823 | SLC26A2 | c.1797A>T (p.Leu599Phe) c.372+3039A>T (n.372+3039A>T) | |
| 5 | g.149981391T>A | CA361708827 | SLC26A2 | c.1798T>A (p.Tyr600Asn) c.372+3040T>A (n.372+3040T>A) | |
| 5 | g.149981391T>C | CA216022 | SLC26A2 | c.1798T>C (p.Tyr600His) c.372+3040T>C (n.372+3040T>C) | ClinVar dbSNP |
| 5 | g.149981391T>G | CA361708825 | SLC26A2 | c.1798T>G (p.Tyr600Asp) c.372+3040T>G (n.372+3040T>G) | |
| 5 | g.149981391T= | CA1590738756 | SLC26A2 | c.1798T= (p.Tyr600=) c.372+3040T= (n.372+3040T=) | |
| 5 | g.149981391_149981393del | CA2559912327 | SLC26A2 | c.1798_1800del (p.Tyr600del) c.372+3040_372+3042del (n.372+3040_372+3042del) | |
| 5 | g.149981392A= | CA1590738757 | SLC26A2 | c.1799A= (p.Tyr600=) c.372+3041A= (n.372+3041A=) | |
| 5 | g.149981392A>C | CA361708830 | SLC26A2 | c.1799A>C (p.Tyr600Ser) c.372+3041A>C (n.372+3041A>C) | |
| 5 | g.149981392A>G | CA3505493 | SLC26A2 | c.1799A>G (p.Tyr600Cys) c.372+3041A>G (n.372+3041A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981392A>T | CA361708832 | SLC26A2 | c.1799A>T (p.Tyr600Phe) c.372+3041A>T (n.372+3041A>T) | |
| 5 | g.149981398_149981401del | CA2580614770 | SLC26A2 | c.1805_1808del (p.Gln602LeufsTer6) c.372+3047_372+3050del (n.372+3047_372+3050del) | ClinVar gnomAD v4 |
| 5 | g.149981393C>A | CA361708834 | SLC26A2 | c.1800C>A (p.Tyr600Ter) c.372+3042C>A (n.372+3042C>A) | ClinVar |
| 5 | g.149981393C= | CA1590738758 | SLC26A2 | c.1800C= (p.Tyr600=) c.372+3042C= (n.372+3042C=) | |
| 5 | g.149981393C>G | CA361708836 | SLC26A2 | c.1800C>G (p.Tyr600Ter) c.372+3042C>G (n.372+3042C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981393C>T | CA447402773 | SLC26A2 | c.1800C>T (p.Tyr600=) c.372+3042C>T (n.372+3042C>T) | gnomAD v4 |
| 5 | g.149981394A= | CA1590738759 | SLC26A2 | c.1801A= (p.Lys601=) c.372+3043A= (n.372+3043A=) | |
| 5 | g.149981394A>C | CA361708839 | SLC26A2 | c.1801A>C (p.Lys601Gln) c.372+3043A>C (n.372+3043A>C) | |
| 5 | g.149981394A>G | CA3505494 | SLC26A2 | c.1801A>G (p.Lys601Glu) c.372+3043A>G (n.372+3043A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981394A>T | CA361708840 | SLC26A2 | c.1801A>T (p.Lys601Ter) c.372+3043A>T (n.372+3043A>T) | |
| 5 | g.149981395A>C | CA361708843 | SLC26A2 | c.1802A>C (p.Lys601Thr) c.372+3044A>C (n.372+3044A>C) | |
| 5 | g.149981395A>G | CA361708844 | SLC26A2 | c.1802A>G (p.Lys601Arg) c.372+3044A>G (n.372+3044A>G) | COSMIC |
| 5 | g.149981395A>T | CA361708845 | SLC26A2 | c.1802A>T (p.Lys601Ile) c.372+3044A>T (n.372+3044A>T) | |
| 5 | g.149981396A>C | CA361708846 | SLC26A2 | c.1803A>C (p.Lys601Asn) c.372+3045A>C (n.372+3045A>C) | |
| 5 | g.149981396A>G | CA447402775 | SLC26A2 | c.1803A>G (p.Lys601=) c.372+3045A>G (n.372+3045A>G) | |
| 5 | g.149981396A>T | CA361708847 | SLC26A2 | c.1803A>T (p.Lys601Asn) c.372+3045A>T (n.372+3045A>T) | |
| 5 | g.149981397C>A | CA361708849 | SLC26A2 | c.1804C>A (p.Gln602Lys) c.372+3046C>A (n.372+3046C>A) | |
| 5 | g.149981397C>G | CA361708851 | SLC26A2 | c.1804C>G (p.Gln602Glu) c.372+3046C>G (n.372+3046C>G) | |
| 5 | g.149981397C>T | CA361708853 | SLC26A2 | c.1804C>T (p.Gln602Ter) c.372+3046C>T (n.372+3046C>T) | |
| 5 | g.149981398A>C | CA361708856 | SLC26A2 | c.1805A>C (p.Gln602Pro) c.372+3047A>C (n.372+3047A>C) | gnomAD v4 |
| 5 | g.149981398A>G | CA361708858 | SLC26A2 | c.1805A>G (p.Gln602Arg) c.372+3047A>G (n.372+3047A>G) | gnomAD v4 |
| 5 | g.149981398A>T | CA361708860 | SLC26A2 | c.1805A>T (p.Gln602Leu) c.372+3047A>T (n.372+3047A>T) | |
| 5 | g.149981398_149981402delinsAAACT | CA1590738760 | SLC26A2 | c.1805_1809delinsAAACT (p.Gln602=) c.372+3047_372+3051delinsAAACT (n.372+3047_372+3051delinsAAACT) | |
| 5 | g.149981399A>C | CA361708865 | SLC26A2 | c.1806A>C (p.Gln602His) c.372+3048A>C (n.372+3048A>C) | |
| 5 | g.149981399A>G | CA447402776 | SLC26A2 | c.1806A>G (p.Gln602=) c.372+3048A>G (n.372+3048A>G) | ClinVar |
| 5 | g.149981399A>T | CA361708862 | SLC26A2 | c.1806A>T (p.Gln602His) c.372+3048A>T (n.372+3048A>T) | |
| 5 | g.149981399_149981402del | CA16040999 | SLC26A2 | c.1806_1809del (p.Thr603SerfsTer5) c.372+3048_372+3051del (n.372+3048_372+3051del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981400A>C | CA361708867 | SLC26A2 | c.1807A>C (p.Thr603Pro) c.372+3049A>C (n.372+3049A>C) | |
| 5 | g.149981400A>G | CA361708869 | SLC26A2 | c.1807A>G (p.Thr603Ala) c.372+3049A>G (n.372+3049A>G) | |
| 5 | g.149981400A>T | CA361708871 | SLC26A2 | c.1807A>T (p.Thr603Ser) c.372+3049A>T (n.372+3049A>T) | |
| 5 | g.149981401C>A | CA361708874 | SLC26A2 | c.1808C>A (p.Thr603Asn) c.372+3050C>A (n.372+3050C>A) | |
| 5 | g.149981401C>G | CA361708875 | SLC26A2 | c.1808C>G (p.Thr603Ser) c.372+3050C>G (n.372+3050C>G) | |
| 5 | g.149981401C>T | CA361708877 | SLC26A2 | c.1808C>T (p.Thr603Ile) c.372+3050C>T (n.372+3050C>T) | gnomAD v4 COSMIC |
| 5 | g.149981402T>A | CA3505495 | SLC26A2 | c.1809T>A (p.Thr603=) c.372+3051T>A (n.372+3051T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981402T>C | CA447402779 | SLC26A2 | c.1809T>C (p.Thr603=) c.372+3051T>C (n.372+3051T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981402T>G | CA447402778 | SLC26A2 | c.1809T>G (p.Thr603=) c.372+3051T>G (n.372+3051T>G) | |
| 5 | g.149981402T= | CA1590738761 | SLC26A2 | c.1809T= (p.Thr603=) c.372+3051T= (n.372+3051T=) | |
| 5 | g.149981403_149981404del | CA2573139282 | SLC26A2 | c.1810_1811del (p.Val604GlnfsTer30) c.372+3052_372+3053del (n.372+3052_372+3053del) | ClinVar dbSNP |
| 5 | g.149981403G>A | CA361708881 | SLC26A2 | c.1810G>A (p.Val604Ile) c.372+3052G>A (n.372+3052G>A) | |
| 5 | g.149981403G>C | CA361708883 | SLC26A2 | c.1810G>C (p.Val604Leu) c.372+3052G>C (n.372+3052G>C) | |
| 5 | g.149981403G= | CA1590738762 | SLC26A2 | c.1810G= (p.Val604=) c.372+3052G= (n.372+3052G=) | |
| 5 | g.149981403G>T | CA361708885 | SLC26A2 | c.1810G>T (p.Val604Phe) c.372+3052G>T (n.372+3052G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981404T>A | CA361708890 | SLC26A2 | c.1811T>A (p.Val604Asp) c.372+3053T>A (n.372+3053T>A) | |
| 5 | g.149981404T>C | CA3505496 | SLC26A2 | c.1811T>C (p.Val604Ala) c.372+3053T>C (n.372+3053T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981404T>G | CA361708888 | SLC26A2 | c.1811T>G (p.Val604Gly) c.372+3053T>G (n.372+3053T>G) | |
| 5 | g.149981404T= | CA1590738763 | SLC26A2 | c.1811T= (p.Val604=) c.372+3053T= (n.372+3053T=) | |
| 5 | g.149981405C>A | CA447402780 | SLC26A2 | c.1812C>A (p.Val604=) c.372+3054C>A (n.372+3054C>A) | |
| 5 | g.149981405C>G | CA447402781 | SLC26A2 | c.1812C>G (p.Val604=) c.372+3054C>G (n.372+3054C>G) | |
| 5 | g.149981405C>T | CA447402783 | SLC26A2 | c.1812C>T (p.Val604=) c.372+3054C>T (n.372+3054C>T) | |
| 5 | g.149981406A>C | CA361708893 | SLC26A2 | c.1813A>C (p.Asn605His) c.372+3055A>C (n.372+3055A>C) | |
| 5 | g.149981406A>G | CA361708895 | SLC26A2 | c.1813A>G (p.Asn605Asp) c.372+3055A>G (n.372+3055A>G) | |
| 5 | g.149981406A>T | CA361708897 | SLC26A2 | c.1813A>T (p.Asn605Tyr) c.372+3055A>T (n.372+3055A>T) | |
| 5 | g.149981407A= | CA1590738764 | SLC26A2 | c.1814A= (p.Asn605=) c.372+3056A= (n.372+3056A=) | |
| 5 | g.149981407A>C | CA361708899 | SLC26A2 | c.1814A>C (p.Asn605Thr) c.372+3056A>C (n.372+3056A>C) | |
| 5 | g.149981407A>G | CA361708902 | SLC26A2 | c.1814A>G (p.Asn605Ser) c.372+3056A>G (n.372+3056A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981407A>T | CA361708904 | SLC26A2 | c.1814A>T (p.Asn605Ile) c.372+3056A>T (n.372+3056A>T) | |
| 5 | g.149981407_149981408del | CA913108430 | SLC26A2 | c.1814_1815del (p.Asn605ThrfsTer29) c.372+3056_372+3057del (n.372+3056_372+3057del) | |
| 5 | g.149981407_149981408delinsAC | CA1590738765 | SLC26A2 | c.1814_1815delinsAC (p.Asn605=) c.372+3056_372+3057delinsAC (n.372+3056_372+3057delinsAC) | |
| 5 | g.149981408C>A | CA361708906 | SLC26A2 | c.1815C>A (p.Asn605Lys) c.372+3057C>A (n.372+3057C>A) | |
| 5 | g.149981408C= | CA1590738766 | SLC26A2 | c.1815C= (p.Asn605=) c.372+3057C= (n.372+3057C=) | |
| 5 | g.149981408C>G | CA361708908 | SLC26A2 | c.1815C>G (p.Asn605Lys) c.372+3057C>G (n.372+3057C>G) | gnomAD v4 |
| 5 | g.149981408C>T | CA3505497 | SLC26A2 | c.1815C>T (p.Asn605=) c.372+3057C>T (n.372+3057C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981410del | CA658823314 | SLC26A2 | c.1817del (p.Pro606GlnfsTer3) c.372+3059del (n.372+3059del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981409C>A | CA3505498 | SLC26A2 | c.1816C>A (p.Pro606Thr) c.372+3058C>A (n.372+3058C>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149981409C= | CA1590738767 | SLC26A2 | c.1816C= (p.Pro606=) c.372+3058C= (n.372+3058C=) | |
| 5 | g.149981409C>G | CA361708911 | SLC26A2 | c.1816C>G (p.Pro606Ala) c.372+3058C>G (n.372+3058C>G) | |
| 5 | g.149981409C>T | CA3505499 | SLC26A2 | c.1816C>T (p.Pro606Ser) c.372+3058C>T (n.372+3058C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981410C>A | CA361708915 | SLC26A2 | c.1817C>A (p.Pro606Gln) c.372+3059C>A (n.372+3059C>A) | |
| 5 | g.149981410C= | CA1590738768 | SLC26A2 | c.1817C= (p.Pro606=) c.372+3059C= (n.372+3059C=) | |
| 5 | g.149981410C>G | CA361708916 | SLC26A2 | c.1817C>G (p.Pro606Arg) c.372+3059C>G (n.372+3059C>G) | |
| 5 | g.149981410C>T | CA361708914 | SLC26A2 | c.1817C>T (p.Pro606Leu) c.372+3059C>T (n.372+3059C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981411A= | CA1590738769 | SLC26A2 | c.1818A= (p.Pro606=) c.372+3060A= (n.372+3060A=) | |
| 5 | g.149981411A>C | CA447402786 | SLC26A2 | c.1818A>C (p.Pro606=) c.372+3060A>C (n.372+3060A>C) | ClinVar |
| 5 | g.149981411A>G | CA447402787 | SLC26A2 | c.1818A>G (p.Pro606=) c.372+3060A>G (n.372+3060A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981411A>T | CA447402788 | SLC26A2 | c.1818A>T (p.Pro606=) c.372+3060A>T (n.372+3060A>T) | |
| 5 | g.149981412del | CA2582341640 | SLC26A2 | c.1819del (p.Ile607SerfsTer2) c.372+3061del (n.372+3061del) | ClinVar |
| 5 | g.149981412A= | CA1590738770 | SLC26A2 | c.1819A= (p.Ile607=) c.372+3061A= (n.372+3061A=) | |
| 5 | g.149981412A>C | CA361708917 | SLC26A2 | c.1819A>C (p.Ile607Leu) c.372+3061A>C (n.372+3061A>C) | |
| 5 | g.149981412A>G | CA3505500 | SLC26A2 | c.1819A>G (p.Ile607Val) c.372+3061A>G (n.372+3061A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981412A>T | CA361708920 | SLC26A2 | c.1819A>T (p.Ile607Phe) c.372+3061A>T (n.372+3061A>T) | |
| 5 | g.149981413T>A | CA361708922 | SLC26A2 | c.1820T>A (p.Ile607Asn) c.372+3062T>A (n.372+3062T>A) | |
| 5 | g.149981413T>C | CA361708923 | SLC26A2 | c.1820T>C (p.Ile607Thr) c.372+3062T>C (n.372+3062T>C) | |
| 5 | g.149981413T>G | CA361708925 | SLC26A2 | c.1820T>G (p.Ile607Ser) c.372+3062T>G (n.372+3062T>G) | |
| 5 | g.149981414C>A | CA447402791 | SLC26A2 | c.1821C>A (p.Ile607=) c.372+3063C>A (n.372+3063C>A) | |
| 5 | g.149981414C= | CA1590738771 | SLC26A2 | c.1821C= (p.Ile607=) c.372+3063C= (n.372+3063C=) | |
| 5 | g.149981414C>G | CA361708927 | SLC26A2 | c.1821C>G (p.Ile607Met) c.372+3063C>G (n.372+3063C>G) | |
| 5 | g.149981414C>T | CA447402793 | SLC26A2 | c.1821C>T (p.Ile607=) c.372+3063C>T (n.372+3063C>T) | dbSNP |
| 5 | g.149981415T>A | CA361708929 | SLC26A2 | c.1822T>A (p.Leu608Ile) c.372+3064T>A (n.372+3064T>A) | |
| 5 | g.149981415T>C | CA447402794 | SLC26A2 | c.1822T>C (p.Leu608=) c.372+3064T>C (n.372+3064T>C) | |
| 5 | g.149981415T>G | CA361708931 | SLC26A2 | c.1822T>G (p.Leu608Val) c.372+3064T>G (n.372+3064T>G) | |
| 5 | g.149981416T>A | CA361708932 | SLC26A2 | c.1823T>A (p.Leu608Ter) c.372+3065T>A (n.372+3065T>A) | |
| 5 | g.149981416T>C | CA361708934 | SLC26A2 | c.1823T>C (p.Leu608Ser) c.372+3065T>C (n.372+3065T>C) | |
| 5 | g.149981416T>G | CA361708936 | SLC26A2 | c.1823T>G (p.Leu608Ter) c.372+3065T>G (n.372+3065T>G) | |
| 5 | g.149981417A>C | CA361708938 | SLC26A2 | c.1824A>C (p.Leu608Phe) c.372+3066A>C (n.372+3066A>C) | |
| 5 | g.149981417A>G | CA447402795 | SLC26A2 | c.1824A>G (p.Leu608=) c.372+3066A>G (n.372+3066A>G) | |
| 5 | g.149981417A>T | CA361708940 | SLC26A2 | c.1824A>T (p.Leu608Phe) c.372+3066A>T (n.372+3066A>T) | |
| 5 | g.149981418A>C | CA361708945 | SLC26A2 | c.1825A>C (p.Ile609Leu) c.372+3067A>C (n.372+3067A>C) | |
| 5 | g.149981418A>G | CA361708944 | SLC26A2 | c.1825A>G (p.Ile609Val) c.372+3067A>G (n.372+3067A>G) | |
| 5 | g.149981418A>T | CA361708942 | SLC26A2 | c.1825A>T (p.Ile609Leu) c.372+3067A>T (n.372+3067A>T) | |
| 5 | g.149981419T>A | CA361708950 | SLC26A2 | c.1826T>A (p.Ile609Lys) c.372+3068T>A (n.372+3068T>A) | |
| 5 | g.149981419T>C | CA361708947 | SLC26A2 | c.1826T>C (p.Ile609Thr) c.372+3068T>C (n.372+3068T>C) | |
| 5 | g.149981419T>G | CA361708948 | SLC26A2 | c.1826T>G (p.Ile609Arg) c.372+3068T>G (n.372+3068T>G) | |
| 5 | g.149981420A= | CA1590738772 | SLC26A2 | c.1827A= (p.Ile609=) c.372+3069A= (n.372+3069A=) | |
| 5 | g.149981420A>C | CA447402800 | SLC26A2 | c.1827A>C (p.Ile609=) c.372+3069A>C (n.372+3069A>C) | |
| 5 | g.149981420A>G | CA361708952 | SLC26A2 | c.1827A>G (p.Ile609Met) c.372+3069A>G (n.372+3069A>G) | |
| 5 | g.149981420A>T | CA447402799 | SLC26A2 | c.1827A>T (p.Ile609=) c.372+3069A>T (n.372+3069A>T) | dbSNP |
| 5 | g.149981421A>C | CA361708955 | SLC26A2 | c.1828A>C (p.Lys610Gln) c.372+3070A>C (n.372+3070A>C) | |
| 5 | g.149981421A>G | CA361708957 | SLC26A2 | c.1828A>G (p.Lys610Glu) c.372+3070A>G (n.372+3070A>G) | |
| 5 | g.149981421A>T | CA361708959 | SLC26A2 | c.1828A>T (p.Lys610Ter) c.372+3070A>T (n.372+3070A>T) | |
| 5 | g.149981422A>C | CA361708966 | SLC26A2 | c.1829A>C (p.Lys610Thr) c.372+3071A>C (n.372+3071A>C) | |
| 5 | g.149981422A>G | CA361708964 | SLC26A2 | c.1829A>G (p.Lys610Arg) c.372+3071A>G (n.372+3071A>G) | |
| 5 | g.149981422A>T | CA361708962 | SLC26A2 | c.1829A>T (p.Lys610Met) c.372+3071A>T (n.372+3071A>T) | |
| 5 | g.149981422_149981423delinsAG | CA1590738773 | SLC26A2 | c.1829_1830delinsAG (p.Lys610=) c.372+3071_372+3072delinsAG (n.372+3071_372+3072delinsAG) | |
| 5 | g.149981423G>A | CA447402803 | SLC26A2 | c.1830G>A (p.Lys610=) c.372+3072G>A (n.372+3072G>A) | |
| 5 | g.149981423G>C | CA361708968 | SLC26A2 | c.1830G>C (p.Lys610Asn) c.372+3072G>C (n.372+3072G>C) | gnomAD v4 |
| 5 | g.149981423G>T | CA361708970 | SLC26A2 | c.1830G>T (p.Lys610Asn) c.372+3072G>T (n.372+3072G>T) | |
| 5 | g.149981424del | CA16042586 | SLC26A2 | c.1831del (p.Val611TrpfsTer15) c.372+3073del (n.372+3073del) | ClinVar dbSNP |
| 5 | g.149981424G>A | CA361708974 | SLC26A2 | c.1831G>A (p.Val611Met) c.372+3073G>A (n.372+3073G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981424G>C | CA129084669 | SLC26A2 | c.1831G>C (p.Val611Leu) c.372+3073G>C (n.372+3073G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981424G= | CA1590738774 | SLC26A2 | c.1831G= (p.Val611=) c.372+3073G= (n.372+3073G=) | |
| 5 | g.149981424G>T | CA3505501 | SLC26A2 | c.1831G>T (p.Val611Leu) c.372+3073G>T (n.372+3073G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981425T>A | CA361708978 | SLC26A2 | c.1832T>A (p.Val611Glu) c.372+3074T>A (n.372+3074T>A) | |
| 5 | g.149981425T>C | CA3505502 | SLC26A2 | c.1832T>C (p.Val611Ala) c.372+3074T>C (n.372+3074T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981425T>G | CA361708981 | SLC26A2 | c.1832T>G (p.Val611Gly) c.372+3074T>G (n.372+3074T>G) | |
| 5 | g.149981425T= | CA1590738775 | SLC26A2 | c.1832T= (p.Val611=) c.372+3074T= (n.372+3074T=) | |
| 5 | g.149981426G>A | CA447402805 | SLC26A2 | c.1833G>A (p.Val611=) c.372+3075G>A (n.372+3075G>A) | ClinVar |
| 5 | g.149981426G>C | CA447402806 | SLC26A2 | c.1833G>C (p.Val611=) c.372+3075G>C (n.372+3075G>C) | |
| 5 | g.149981426G>T | CA447402807 | SLC26A2 | c.1833G>T (p.Val611=) c.372+3075G>T (n.372+3075G>T) | ClinVar dbSNP |
| 5 | g.149981427G>A | CA361708985 | SLC26A2 | c.1834G>A (p.Ala612Thr) c.372+3076G>A (n.372+3076G>A) | gnomAD v4 |
| 5 | g.149981427G>C | CA361708987 | SLC26A2 | c.1834G>C (p.Ala612Pro) c.372+3076G>C (n.372+3076G>C) | |
| 5 | g.149981427G>T | CA361708988 | SLC26A2 | c.1834G>T (p.Ala612Ser) c.372+3076G>T (n.372+3076G>T) | |
| 5 | g.149981428C>A | CA361708991 | SLC26A2 | c.1835C>A (p.Ala612Asp) c.372+3077C>A (n.372+3077C>A) | |
| 5 | g.149981428C>G | CA361708992 | SLC26A2 | c.1835C>G (p.Ala612Gly) c.372+3077C>G (n.372+3077C>G) | |
| 5 | g.149981428C>T | CA361708994 | SLC26A2 | c.1835C>T (p.Ala612Val) c.372+3077C>T (n.372+3077C>T) | |
| 5 | g.149981429T>A | CA447402809 | SLC26A2 | c.1836T>A (p.Ala612=) c.372+3078T>A (n.372+3078T>A) | |
| 5 | g.149981429T>C | CA447402810 | SLC26A2 | c.1836T>C (p.Ala612=) c.372+3078T>C (n.372+3078T>C) | |
| 5 | g.149981429T>G | CA447402811 | SLC26A2 | c.1836T>G (p.Ala612=) c.372+3078T>G (n.372+3078T>G) | |
| 5 | g.149981430T>A | CA361708997 | SLC26A2 | c.1837T>A (p.Trp613Arg) c.372+3079T>A (n.372+3079T>A) | |
| 5 | g.149981430T>C | CA361708998 | SLC26A2 | c.1837T>C (p.Trp613Arg) c.372+3079T>C (n.372+3079T>C) | |
| 5 | g.149981430T>G | CA361709000 | SLC26A2 | c.1837T>G (p.Trp613Gly) c.372+3079T>G (n.372+3079T>G) | |
| 5 | g.149981431G>A | CA361709003 | SLC26A2 | c.1838G>A (p.Trp613Ter) c.372+3080G>A (n.372+3080G>A) | gnomAD v4 |
| 5 | g.149981431G>C | CA361709004 | SLC26A2 | c.1838G>C (p.Trp613Ser) c.372+3080G>C (n.372+3080G>C) | dbSNP |
| 5 | g.149981431G= | CA1590738777 | SLC26A2 | c.1838G= (p.Trp613=) c.372+3080G= (n.372+3080G=) | |
| 5 | g.149981431G>T | CA361709006 | SLC26A2 | c.1838G>T (p.Trp613Leu) c.372+3080G>T (n.372+3080G>T) | ClinVar gnomAD v4 |
| 5 | g.149981431_149981434delinsGGAA | CA1590738776 | SLC26A2 | c.1838_1841delinsGGAA (p.Trp613=) c.372+3080_372+3083delinsGGAA (n.372+3080_372+3083delinsGGAA) | |
| 5 | g.149981432G>A | CA361709009 | SLC26A2 | c.1839G>A (p.Trp613Ter) c.372+3081G>A (n.372+3081G>A) | |
| 5 | g.149981432G>C | CA361709010 | SLC26A2 | c.1839G>C (p.Trp613Cys) c.372+3081G>C (n.372+3081G>C) | |
| 5 | g.149981432G>T | CA361709012 | SLC26A2 | c.1839G>T (p.Trp613Cys) c.372+3081G>T (n.372+3081G>T) | |
| 5 | g.149981436_149981438del | CA3505503 | SLC26A2 | c.1843_1845del (p.Lys615del) c.372+3085_372+3087del (n.372+3085_372+3087del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981433A>C | CA361709014 | SLC26A2 | c.1840A>C (p.Lys614Gln) c.372+3082A>C (n.372+3082A>C) | |
| 5 | g.149981433A>G | CA361709015 | SLC26A2 | c.1840A>G (p.Lys614Glu) c.372+3082A>G (n.372+3082A>G) | |
| 5 | g.149981433A>T | CA361709017 | SLC26A2 | c.1840A>T (p.Lys614Ter) c.372+3082A>T (n.372+3082A>T) | |
| 5 | g.149981434A>C | CA361709020 | SLC26A2 | c.1841A>C (p.Lys614Thr) c.372+3083A>C (n.372+3083A>C) | |
| 5 | g.149981434A>G | CA361709022 | SLC26A2 | c.1841A>G (p.Lys614Arg) c.372+3083A>G (n.372+3083A>G) | gnomAD v4 |
| 5 | g.149981434A>T | CA361709024 | SLC26A2 | c.1841A>T (p.Lys614Met) c.372+3083A>T (n.372+3083A>T) | |
| 5 | g.149981435G>A | CA447402815 | SLC26A2 | c.1842G>A (p.Lys614=) c.372+3084G>A (n.372+3084G>A) | |
| 5 | g.149981435G>C | CA361709026 | SLC26A2 | c.1842G>C (p.Lys614Asn) c.372+3084G>C (n.372+3084G>C) | |
| 5 | g.149981435G>T | CA361709028 | SLC26A2 | c.1842G>T (p.Lys614Asn) c.372+3084G>T (n.372+3084G>T) | |
| 5 | g.149981436A>C | CA361709030 | SLC26A2 | c.1843A>C (p.Lys615Gln) c.372+3085A>C (n.372+3085A>C) | |
| 5 | g.149981436A>G | CA361709032 | SLC26A2 | c.1843A>G (p.Lys615Glu) c.372+3085A>G (n.372+3085A>G) | |
| 5 | g.149981436A>T | CA361709034 | SLC26A2 | c.1843A>T (p.Lys615Ter) c.372+3085A>T (n.372+3085A>T) | |
| 5 | g.149981437A= | CA1590738778 | SLC26A2 | c.1844A= (p.Lys615=) c.372+3086A= (n.372+3086A=) | |
| 5 | g.149981437A>C | CA361709041 | SLC26A2 | c.1844A>C (p.Lys615Thr) c.372+3086A>C (n.372+3086A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981437A>G | CA361709036 | SLC26A2 | c.1844A>G (p.Lys615Arg) c.372+3086A>G (n.372+3086A>G) | |
| 5 | g.149981437A>T | CA361709039 | SLC26A2 | c.1844A>T (p.Lys615Met) c.372+3086A>T (n.372+3086A>T) |