UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981147T>A | CA447402679 | SLC26A2 | c.1554T>A (p.Thr518=) c.372+2796T>A (n.372+2796T>A) | |
| 5 | g.149981147T>C | CA447402681 | SLC26A2 | c.1554T>C (p.Thr518=) c.372+2796T>C (n.372+2796T>C) | |
| 5 | g.149981147T>G | CA447402683 | SLC26A2 | c.1554T>G (p.Thr518=) c.372+2796T>G (n.372+2796T>G) | ClinVar |
| 5 | g.149981148A= | CA1590738656 | SLC26A2 | c.1555A= (p.Met519=) c.372+2797A= (n.372+2797A=) | |
| 5 | g.149981148A>C | CA361708117 | SLC26A2 | c.1555A>C (p.Met519Leu) c.372+2797A>C (n.372+2797A>C) | |
| 5 | g.149981148A>G | CA129084455 | SLC26A2 | c.1555A>G (p.Met519Val) c.372+2797A>G (n.372+2797A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981148A>T | CA361708118 | SLC26A2 | c.1555A>T (p.Met519Leu) c.372+2797A>T (n.372+2797A>T) | |
| 5 | g.149981149T>A | CA361708119 | SLC26A2 | c.1556T>A (p.Met519Lys) c.372+2798T>A (n.372+2798T>A) | |
| 5 | g.149981149T>C | CA3505458 | SLC26A2 | c.1556T>C (p.Met519Thr) c.372+2798T>C (n.372+2798T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981149T>G | CA361708120 | SLC26A2 | c.1556T>G (p.Met519Arg) c.372+2798T>G (n.372+2798T>G) | |
| 5 | g.149981149T= | CA1590738657 | SLC26A2 | c.1556T= (p.Met519=) c.372+2798T= (n.372+2798T=) | |
| 5 | g.149981150G>A | CA361708122 | SLC26A2 | c.1557G>A (p.Met519Ile) c.372+2799G>A (n.372+2799G>A) | |
| 5 | g.149981150G>C | CA361708123 | SLC26A2 | c.1557G>C (p.Met519Ile) c.372+2799G>C (n.372+2799G>C) | |
| 5 | g.149981150G>T | CA361708121 | SLC26A2 | c.1557G>T (p.Met519Ile) c.372+2799G>T (n.372+2799G>T) | |
| 5 | g.149981151C>A | CA361708124 | SLC26A2 | c.1558C>A (p.Leu520Met) c.372+2800C>A (n.372+2800C>A) | |
| 5 | g.149981151C= | CA1590738658 | SLC26A2 | c.1558C= (p.Leu520=) c.372+2800C= (n.372+2800C=) | |
| 5 | g.149981151C>G | CA361708125 | SLC26A2 | c.1558C>G (p.Leu520Val) c.372+2800C>G (n.372+2800C>G) | |
| 5 | g.149981151C>T | CA447402690 | SLC26A2 | c.1558C>T (p.Leu520=) c.372+2800C>T (n.372+2800C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.149981152T>A | CA361708126 | SLC26A2 | c.1559T>A (p.Leu520Gln) c.372+2801T>A (n.372+2801T>A) | |
| 5 | g.149981152T>C | CA361708127 | SLC26A2 | c.1559T>C (p.Leu520Pro) c.372+2801T>C (n.372+2801T>C) | |
| 5 | g.149981152T>G | CA361708128 | SLC26A2 | c.1559T>G (p.Leu520Arg) c.372+2801T>G (n.372+2801T>G) | |
| 5 | g.149981153G>A | CA3505459 | SLC26A2 | c.1560G>A (p.Leu520=) c.372+2802G>A (n.372+2802G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981153G>C | CA447402694 | SLC26A2 | c.1560G>C (p.Leu520=) c.372+2802G>C (n.372+2802G>C) | dbSNP |
| 5 | g.149981153G= | CA1590738659 | SLC26A2 | c.1560G= (p.Leu520=) c.372+2802G= (n.372+2802G=) | |
| 5 | g.149981153G>T | CA447402695 | SLC26A2 | c.1560G>T (p.Leu520=) c.372+2802G>T (n.372+2802G>T) | |
| 5 | g.149981154T>A | CA361708129 | SLC26A2 | c.1561T>A (p.Ser521Thr) c.372+2803T>A (n.372+2803T>A) | gnomAD v4 |
| 5 | g.149981154T>C | CA361708130 | SLC26A2 | c.1561T>C (p.Ser521Pro) c.372+2803T>C (n.372+2803T>C) | |
| 5 | g.149981154T>G | CA361708131 | SLC26A2 | c.1561T>G (p.Ser521Ala) c.372+2803T>G (n.372+2803T>G) | |
| 5 | g.149981155C>A | CA361708132 | SLC26A2 | c.1562C>A (p.Ser521Tyr) c.372+2804C>A (n.372+2804C>A) | |
| 5 | g.149981155C>G | CA361708133 | SLC26A2 | c.1562C>G (p.Ser521Cys) c.372+2804C>G (n.372+2804C>G) | |
| 5 | g.149981155C>T | CA361708134 | SLC26A2 | c.1562C>T (p.Ser521Phe) c.372+2804C>T (n.372+2804C>T) | |
| 5 | g.149981156C>A | CA447402699 | SLC26A2 | c.1563C>A (p.Ser521=) c.372+2805C>A (n.372+2805C>A) | |
| 5 | g.149981156C>G | CA447402700 | SLC26A2 | c.1563C>G (p.Ser521=) c.372+2805C>G (n.372+2805C>G) | |
| 5 | g.149981156C>T | CA447402701 | SLC26A2 | c.1563C>T (p.Ser521=) c.372+2805C>T (n.372+2805C>T) | |
| 5 | g.149981157T>A | CA361708135 | SLC26A2 | c.1564T>A (p.Ser522Thr) c.372+2806T>A (n.372+2806T>A) | |
| 5 | g.149981157T>C | CA361708136 | SLC26A2 | c.1564T>C (p.Ser522Pro) c.372+2806T>C (n.372+2806T>C) | ClinVar dbSNP |
| 5 | g.149981157T>G | CA361708137 | SLC26A2 | c.1564T>G (p.Ser522Ala) c.372+2806T>G (n.372+2806T>G) | |
| 5 | g.149981157T= | CA1590738660 | SLC26A2 | c.1564T= (p.Ser522=) c.372+2806T= (n.372+2806T=) | |
| 5 | g.149981158C>A | CA361708138 | SLC26A2 | c.1565C>A (p.Ser522Tyr) c.372+2807C>A (n.372+2807C>A) | |
| 5 | g.149981158C= | CA1590738661 | SLC26A2 | c.1565C= (p.Ser522=) c.372+2807C= (n.372+2807C=) | |
| 5 | g.149981158C>G | CA361708140 | SLC26A2 | c.1565C>G (p.Ser522Cys) c.372+2807C>G (n.372+2807C>G) | |
| 5 | g.149981158C>T | CA361708139 | SLC26A2 | c.1565C>T (p.Ser522Phe) c.372+2807C>T (n.372+2807C>T) | ClinVar dbSNP |
| 5 | g.149981159T>A | CA447402704 | SLC26A2 | c.1566T>A (p.Ser522=) c.372+2808T>A (n.372+2808T>A) | |
| 5 | g.149981159T>C | CA447402706 | SLC26A2 | c.1566T>C (p.Ser522=) c.372+2808T>C (n.372+2808T>C) | |
| 5 | g.149981159T>G | CA447402707 | SLC26A2 | c.1566T>G (p.Ser522=) c.372+2808T>G (n.372+2808T>G) | |
| 5 | g.149981160G>A | CA361708141 | SLC26A2 | c.1567G>A (p.Ala523Thr) c.372+2809G>A (n.372+2809G>A) | |
| 5 | g.149981160G>C | CA361708142 | SLC26A2 | c.1567G>C (p.Ala523Pro) c.372+2809G>C (n.372+2809G>C) | |
| 5 | g.149981160G>T | CA361708143 | SLC26A2 | c.1567G>T (p.Ala523Ser) c.372+2809G>T (n.372+2809G>T) | |
| 5 | g.149981161C>A | CA361708144 | SLC26A2 | c.1568C>A (p.Ala523Glu) c.372+2810C>A (n.372+2810C>A) | |
| 5 | g.149981161C>G | CA361708145 | SLC26A2 | c.1568C>G (p.Ala523Gly) c.372+2810C>G (n.372+2810C>G) | |
| 5 | g.149981161C>T | CA361708146 | SLC26A2 | c.1568C>T (p.Ala523Val) c.372+2810C>T (n.372+2810C>T) | gnomAD v4 |
| 5 | g.149981162A>C | CA447402709 | SLC26A2 | c.1569A>C (p.Ala523=) c.372+2811A>C (n.372+2811A>C) | gnomAD v4 |
| 5 | g.149981162A>G | CA447402711 | SLC26A2 | c.1569A>G (p.Ala523=) c.372+2811A>G (n.372+2811A>G) | ClinVar gnomAD v4 |
| 5 | g.149981162A>T | CA447402710 | SLC26A2 | c.1569A>T (p.Ala523=) c.372+2811A>T (n.372+2811A>T) | |
| 5 | g.149981163C>A | CA361708147 | SLC26A2 | c.1570C>A (p.Leu524Met) c.372+2812C>A (n.372+2812C>A) | |
| 5 | g.149981163C>G | CA361708148 | SLC26A2 | c.1570C>G (p.Leu524Val) c.372+2812C>G (n.372+2812C>G) | |
| 5 | g.149981163C>T | CA447402713 | SLC26A2 | c.1570C>T (p.Leu524=) c.372+2812C>T (n.372+2812C>T) | |
| 5 | g.149981164T>A | CA361708149 | SLC26A2 | c.1571T>A (p.Leu524Gln) c.372+2813T>A (n.372+2813T>A) | |
| 5 | g.149981164T>C | CA361708150 | SLC26A2 | c.1571T>C (p.Leu524Pro) c.372+2813T>C (n.372+2813T>C) | |
| 5 | g.149981164T>G | CA361708151 | SLC26A2 | c.1571T>G (p.Leu524Arg) c.372+2813T>G (n.372+2813T>G) | |
| 5 | g.149981165G>A | CA447402716 | SLC26A2 | c.1572G>A (p.Leu524=) c.372+2814G>A (n.372+2814G>A) | |
| 5 | g.149981165G>C | CA447402718 | SLC26A2 | c.1572G>C (p.Leu524=) c.372+2814G>C (n.372+2814G>C) | |
| 5 | g.149981165G>T | CA447402719 | SLC26A2 | c.1572G>T (p.Leu524=) c.372+2814G>T (n.372+2814G>T) | gnomAD v4 |
| 5 | g.149981166C>A | CA361708152 | SLC26A2 | c.1573C>A (p.Leu525Ile) c.372+2815C>A (n.372+2815C>A) | |
| 5 | g.149981166C= | CA1590738662 | SLC26A2 | c.1573C= (p.Leu525=) c.372+2815C= (n.372+2815C=) | |
| 5 | g.149981166C>G | CA3505460 | SLC26A2 | c.1573C>G (p.Leu525Val) c.372+2815C>G (n.372+2815C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981166C>T | CA447402721 | SLC26A2 | c.1573C>T (p.Leu525=) c.372+2815C>T (n.372+2815C>T) | |
| 5 | g.149981167T>A | CA361708153 | SLC26A2 | c.1574T>A (p.Leu525Gln) c.372+2816T>A (n.372+2816T>A) | |
| 5 | g.149981167T>C | CA361708154 | SLC26A2 | c.1574T>C (p.Leu525Pro) c.372+2816T>C (n.372+2816T>C) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149981167T>G | CA361708155 | SLC26A2 | c.1574T>G (p.Leu525Arg) c.372+2816T>G (n.372+2816T>G) | |
| 5 | g.149981167T= | CA1590738663 | SLC26A2 | c.1574T= (p.Leu525=) c.372+2816T= (n.372+2816T=) | |
| 5 | g.149981168A>C | CA447402724 | SLC26A2 | c.1575A>C (p.Leu525=) c.372+2817A>C (n.372+2817A>C) | |
| 5 | g.149981168A>G | CA447402725 | SLC26A2 | c.1575A>G (p.Leu525=) c.372+2817A>G (n.372+2817A>G) | ClinVar gnomAD v4 |
| 5 | g.149981168A>T | CA447402726 | SLC26A2 | c.1575A>T (p.Leu525=) c.372+2817A>T (n.372+2817A>T) | |
| 5 | g.149981169A>C | CA361708156 | SLC26A2 | c.1576A>C (p.Ser526Arg) c.372+2818A>C (n.372+2818A>C) | |
| 5 | g.149981169A>G | CA361708157 | SLC26A2 | c.1576A>G (p.Ser526Gly) c.372+2818A>G (n.372+2818A>G) | |
| 5 | g.149981169A>T | CA361708158 | SLC26A2 | c.1576A>T (p.Ser526Cys) c.372+2818A>T (n.372+2818A>T) | |
| 5 | g.149981170G>A | CA361708161 | SLC26A2 | c.1577G>A (p.Ser526Asn) c.372+2819G>A (n.372+2819G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981170G>C | CA361708159 | SLC26A2 | c.1577G>C (p.Ser526Thr) c.372+2819G>C (n.372+2819G>C) | |
| 5 | g.149981170G= | CA1590738664 | SLC26A2 | c.1577G= (p.Ser526=) c.372+2819G= (n.372+2819G=) | |
| 5 | g.149981170G>T | CA361708160 | SLC26A2 | c.1577G>T (p.Ser526Ile) c.372+2819G>T (n.372+2819G>T) | |
| 5 | g.149981171T>A | CA361708162 | SLC26A2 | c.1578T>A (p.Ser526Arg) c.372+2820T>A (n.372+2820T>A) | |
| 5 | g.149981171T>C | CA447402728 | SLC26A2 | c.1578T>C (p.Ser526=) c.372+2820T>C (n.372+2820T>C) | gnomAD v4 |
| 5 | g.149981171T>G | CA361708163 | SLC26A2 | c.1578T>G (p.Ser526Arg) c.372+2820T>G (n.372+2820T>G) | |
| 5 | g.149981172A= | CA1590738665 | SLC26A2 | c.1579A= (p.Thr527=) c.372+2821A= (n.372+2821A=) | |
| 5 | g.149981172A>C | CA361708164 | SLC26A2 | c.1579A>C (p.Thr527Pro) c.372+2821A>C (n.372+2821A>C) | |
| 5 | g.149981172A>G | CA361708165 | SLC26A2 | c.1579A>G (p.Thr527Ala) c.372+2821A>G (n.372+2821A>G) | dbSNP |
| 5 | g.149981172A>T | CA361708166 | SLC26A2 | c.1579A>T (p.Thr527Ser) c.372+2821A>T (n.372+2821A>T) | |
| 5 | g.149981173C>A | CA361708167 | SLC26A2 | c.1580C>A (p.Thr527Asn) c.372+2822C>A (n.372+2822C>A) | dbSNP |
| 5 | g.149981173C= | CA1590738666 | SLC26A2 | c.1580C= (p.Thr527=) c.372+2822C= (n.372+2822C=) | |
| 5 | g.149981173C>G | CA361708169 | SLC26A2 | c.1580C>G (p.Thr527Ser) c.372+2822C>G (n.372+2822C>G) | |
| 5 | g.149981173C>T | CA361708168 | SLC26A2 | c.1580C>T (p.Thr527Ile) c.372+2822C>T (n.372+2822C>T) | gnomAD v4 |
| 5 | g.149981174T>A | CA447402729 | SLC26A2 | c.1581T>A (p.Thr527=) c.372+2823T>A (n.372+2823T>A) | |
| 5 | g.149981174T>C | CA447402730 | SLC26A2 | c.1581T>C (p.Thr527=) c.372+2823T>C (n.372+2823T>C) | |
| 5 | g.149981174T>G | CA447402731 | SLC26A2 | c.1581T>G (p.Thr527=) c.372+2823T>G (n.372+2823T>G) | |
| 5 | g.149981175G>A | CA361708170 | SLC26A2 | c.1582G>A (p.Glu528Lys) c.372+2824G>A (n.372+2824G>A) | |
| 5 | g.149981175G>C | CA361708171 | SLC26A2 | c.1582G>C (p.Glu528Gln) c.372+2824G>C (n.372+2824G>C) | |
| 5 | g.149981175G>T | CA361708172 | SLC26A2 | c.1582G>T (p.Glu528Ter) c.372+2824G>T (n.372+2824G>T) | |
| 5 | g.149981176A>C | CA361708173 | SLC26A2 | c.1583A>C (p.Glu528Ala) c.372+2825A>C (n.372+2825A>C) | |
| 5 | g.149981176A>G | CA361708174 | SLC26A2 | c.1583A>G (p.Glu528Gly) c.372+2825A>G (n.372+2825A>G) | |
| 5 | g.149981176A>T | CA361708175 | SLC26A2 | c.1583A>T (p.Glu528Val) c.372+2825A>T (n.372+2825A>T) | |
| 5 | g.149981177A= | CA1590738667 | SLC26A2 | c.1584A= (p.Glu528=) c.372+2826A= (n.372+2826A=) | |
| 5 | g.149981177A>C | CA361708176 | SLC26A2 | c.1584A>C (p.Glu528Asp) c.372+2826A>C (n.372+2826A>C) | |
| 5 | g.149981177A>G | CA447402732 | SLC26A2 | c.1584A>G (p.Glu528=) c.372+2826A>G (n.372+2826A>G) | dbSNP gnomAD v2 |
| 5 | g.149981177A>T | CA361708177 | SLC26A2 | c.1584A>T (p.Glu528Asp) c.372+2826A>T (n.372+2826A>T) | |
| 5 | g.149981178A>C | CA361708178 | SLC26A2 | c.1585A>C (p.Ile529Leu) c.372+2827A>C (n.372+2827A>C) | |
| 5 | g.149981178A>G | CA361708179 | SLC26A2 | c.1585A>G (p.Ile529Val) c.372+2827A>G (n.372+2827A>G) | |
| 5 | g.149981178A>T | CA361708180 | SLC26A2 | c.1585A>T (p.Ile529Leu) c.372+2827A>T (n.372+2827A>T) | |
| 5 | g.149981179T>A | CA361708183 | SLC26A2 | c.1586T>A (p.Ile529Lys) c.372+2828T>A (n.372+2828T>A) | |
| 5 | g.149981179T>C | CA361708182 | SLC26A2 | c.1586T>C (p.Ile529Thr) c.372+2828T>C (n.372+2828T>C) | dbSNP gnomAD v4 |
| 5 | g.149981179T>G | CA361708181 | SLC26A2 | c.1586T>G (p.Ile529Arg) c.372+2828T>G (n.372+2828T>G) | |
| 5 | g.149981179T= | CA1590738668 | SLC26A2 | c.1586T= (p.Ile529=) c.372+2828T= (n.372+2828T=) | |
| 5 | g.149981180A= | CA1590738669 | SLC26A2 | c.1587A= (p.Ile529=) c.372+2829A= (n.372+2829A=) | |
| 5 | g.149981180A>C | CA447402733 | SLC26A2 | c.1587A>C (p.Ile529=) c.372+2829A>C (n.372+2829A>C) | |
| 5 | g.149981180A>G | CA361708184 | SLC26A2 | c.1587A>G (p.Ile529Met) c.372+2829A>G (n.372+2829A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981180A>T | CA447402734 | SLC26A2 | c.1587A>T (p.Ile529=) c.372+2829A>T (n.372+2829A>T) | |
| 5 | g.149981181G>A | CA361708185 | SLC26A2 | c.1588G>A (p.Gly530Ser) c.372+2830G>A (n.372+2830G>A) | gnomAD v4 |
| 5 | g.149981181G>C | CA361708186 | SLC26A2 | c.1588G>C (p.Gly530Arg) c.372+2830G>C (n.372+2830G>C) | |
| 5 | g.149981181G>T | CA361708187 | SLC26A2 | c.1588G>T (p.Gly530Cys) c.372+2830G>T (n.372+2830G>T) | |
| 5 | g.149981182G>A | CA361708188 | SLC26A2 | c.1589G>A (p.Gly530Asp) c.372+2831G>A (n.372+2831G>A) | |
| 5 | g.149981182G>C | CA3505461 | SLC26A2 | c.1589G>C (p.Gly530Ala) c.372+2831G>C (n.372+2831G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981182G= | CA1590738670 | SLC26A2 | c.1589G= (p.Gly530=) c.372+2831G= (n.372+2831G=) | |
| 5 | g.149981182G>T | CA361708189 | SLC26A2 | c.1589G>T (p.Gly530Val) c.372+2831G>T (n.372+2831G>T) | |
| 5 | g.149981183C>A | CA447402737 | SLC26A2 | c.1590C>A (p.Gly530=) c.372+2832C>A (n.372+2832C>A) | |
| 5 | g.149981183C>G | CA447402736 | SLC26A2 | c.1590C>G (p.Gly530=) c.372+2832C>G (n.372+2832C>G) | |
| 5 | g.149981183C>T | CA447402735 | SLC26A2 | c.1590C>T (p.Gly530=) c.372+2832C>T (n.372+2832C>T) | gnomAD v4 |
| 5 | g.149981184C>A | CA361708190 | SLC26A2 | c.1591C>A (p.Leu531Ile) c.372+2833C>A (n.372+2833C>A) | |
| 5 | g.149981184C= | CA1590738671 | SLC26A2 | c.1591C= (p.Leu531=) c.372+2833C= (n.372+2833C=) | |
| 5 | g.149981184C>G | CA3505462 | SLC26A2 | c.1591C>G (p.Leu531Val) c.372+2833C>G (n.372+2833C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981184C>T | CA447402738 | SLC26A2 | c.1591C>T (p.Leu531=) c.372+2833C>T (n.372+2833C>T) | |
| 5 | g.149981185del | CA2573139279 | SLC26A2 | c.1592del (p.Leu531HisfsTer?) c.372+2834del (n.372+2834del) | ClinVar dbSNP |
| 5 | g.149981185T>A | CA361708191 | SLC26A2 | c.1592T>A (p.Leu531Gln) c.372+2834T>A (n.372+2834T>A) | |
| 5 | g.149981185T>C | CA361708192 | SLC26A2 | c.1592T>C (p.Leu531Pro) c.372+2834T>C (n.372+2834T>C) | |
| 5 | g.149981185T>G | CA361708193 | SLC26A2 | c.1592T>G (p.Leu531Arg) c.372+2834T>G (n.372+2834T>G) | |
| 5 | g.149981186A>C | CA447402739 | SLC26A2 | c.1593A>C (p.Leu531=) c.372+2835A>C (n.372+2835A>C) | |
| 5 | g.149981186A>G | CA447402740 | SLC26A2 | c.1593A>G (p.Leu531=) c.372+2835A>G (n.372+2835A>G) | |
| 5 | g.149981186A>T | CA447402741 | SLC26A2 | c.1593A>T (p.Leu531=) c.372+2835A>T (n.372+2835A>T) | |
| 5 | g.149981187C>A | CA361708194 | SLC26A2 | c.1594C>A (p.Leu532Ile) c.372+2836C>A (n.372+2836C>A) | |
| 5 | g.149981187C= | CA1590738672 | SLC26A2 | c.1594C= (p.Leu532=) c.372+2836C= (n.372+2836C=) | |
| 5 | g.149981187C>G | CA361708195 | SLC26A2 | c.1594C>G (p.Leu532Val) c.372+2836C>G (n.372+2836C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981187C>T | CA361708196 | SLC26A2 | c.1594C>T (p.Leu532Phe) c.372+2836C>T (n.372+2836C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981187_149981188del | CA913108428 | SLC26A2 | c.1594_1595del (p.Leu532CysfsTer29) c.372+2836_372+2837del (n.372+2836_372+2837del) | |
| 5 | g.149981187_149981188delinsCT | CA1590738673 | SLC26A2 | c.1594_1595delinsCT (p.Leu532=) c.372+2836_372+2837delinsCT (n.372+2836_372+2837delinsCT) | |
| 5 | g.149981188T>A | CA361708197 | SLC26A2 | c.1595T>A (p.Leu532His) c.372+2837T>A (n.372+2837T>A) | |
| 5 | g.149981188T>C | CA361708199 | SLC26A2 | c.1595T>C (p.Leu532Pro) c.372+2837T>C (n.372+2837T>C) | |
| 5 | g.149981188T>G | CA361708198 | SLC26A2 | c.1595T>G (p.Leu532Arg) c.372+2837T>G (n.372+2837T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981188T= | CA1590738674 | SLC26A2 | c.1595T= (p.Leu532=) c.372+2837T= (n.372+2837T=) | |
| 5 | g.149981189del | CA658823313 | SLC26A2 | c.1596del (p.Val533LeufsTer?) c.372+2838del (n.372+2838del) | ClinVar dbSNP |
| 5 | g.149981189T>A | CA447402743 | SLC26A2 | c.1596T>A (p.Leu532=) c.372+2838T>A (n.372+2838T>A) | |
| 5 | g.149981189T>C | CA447402746 | SLC26A2 | c.1596T>C (p.Leu532=) c.372+2838T>C (n.372+2838T>C) | |
| 5 | g.149981189T>G | CA447402744 | SLC26A2 | c.1596T>G (p.Leu532=) c.372+2838T>G (n.372+2838T>G) | |
| 5 | g.149981190G>A | CA361708200 | SLC26A2 | c.1597G>A (p.Val533Ile) c.372+2839G>A (n.372+2839G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981190G>C | CA361708201 | SLC26A2 | c.1597G>C (p.Val533Leu) c.372+2839G>C (n.372+2839G>C) | gnomAD v4 |
| 5 | g.149981190G= | CA1590738675 | SLC26A2 | c.1597G= (p.Val533=) c.372+2839G= (n.372+2839G=) | |
| 5 | g.149981190G>T | CA361708202 | SLC26A2 | c.1597G>T (p.Val533Phe) c.372+2839G>T (n.372+2839G>T) | gnomAD v4 |
| 5 | g.149981191T>A | CA361708203 | SLC26A2 | c.1598T>A (p.Val533Asp) c.372+2840T>A (n.372+2840T>A) | |
| 5 | g.149981191T>C | CA361708204 | SLC26A2 | c.1598T>C (p.Val533Ala) c.372+2840T>C (n.372+2840T>C) | |
| 5 | g.149981191T>G | CA361708205 | SLC26A2 | c.1598T>G (p.Val533Gly) c.372+2840T>G (n.372+2840T>G) | |
| 5 | g.149981192T>A | CA447402749 | SLC26A2 | c.1599T>A (p.Val533=) c.372+2841T>A (n.372+2841T>A) | |
| 5 | g.149981192T>C | CA447402750 | SLC26A2 | c.1599T>C (p.Val533=) c.372+2841T>C (n.372+2841T>C) | |
| 5 | g.149981192T>G | CA447402751 | SLC26A2 | c.1599T>G (p.Val533=) c.372+2841T>G (n.372+2841T>G) | |
| 5 | g.149981193G>A | CA3505463 | SLC26A2 | c.1600G>A (p.Gly534Arg) c.372+2842G>A (n.372+2842G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981193G>C | CA361708206 | SLC26A2 | c.1600G>C (p.Gly534Arg) c.372+2842G>C (n.372+2842G>C) | |
| 5 | g.149981193G= | CA1590738676 | SLC26A2 | c.1600G= (p.Gly534=) c.372+2842G= (n.372+2842G=) | |
| 5 | g.149981193G>T | CA361708207 | SLC26A2 | c.1600G>T (p.Gly534Trp) c.372+2842G>T (n.372+2842G>T) | gnomAD v4 |
| 5 | g.149981194G>A | CA361708208 | SLC26A2 | c.1601G>A (p.Gly534Glu) c.372+2843G>A (n.372+2843G>A) | |
| 5 | g.149981194G>C | CA361708209 | SLC26A2 | c.1601G>C (p.Gly534Ala) c.372+2843G>C (n.372+2843G>C) | gnomAD v4 |
| 5 | g.149981194G>T | CA361708210 | SLC26A2 | c.1601G>T (p.Gly534Val) c.372+2843G>T (n.372+2843G>T) | gnomAD v4 |
| 5 | g.149981195_149981196insAAGATCCCTAAATTTACGAAGG | CA2547468802 | SLC26A2 | c.1602_1603insAAGATCCCTAAATTTACGAAGG (p.Val535LysfsTer34) c.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG (n.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG) | |
| 5 | g.149981195G>A | CA447402752 | SLC26A2 | c.1602G>A (p.Gly534=) c.372+2844G>A (n.372+2844G>A) | |
| 5 | g.149981195G>C | CA447402753 | SLC26A2 | c.1602G>C (p.Gly534=) c.372+2844G>C (n.372+2844G>C) | |
| 5 | g.149981195G>T | CA447402754 | SLC26A2 | c.1602G>T (p.Gly534=) c.372+2844G>T (n.372+2844G>T) | |
| 5 | g.149981195_149981199delinsGGTTT | CA1590738677 | SLC26A2 | c.1602_1606delinsGGTTT (p.Gly534=) c.372+2844_372+2848delinsGGTTT (n.372+2844_372+2848delinsGGTTT) | |
| 5 | g.149981196_149981200del | CA913108429 | SLC26A2 | c.1603_1607del (p.Val535PhefsTer25) c.372+2845_372+2849del (n.372+2845_372+2849del) | |
| 5 | g.149981196G>A | CA361708213 | SLC26A2 | c.1603G>A (p.Val535Ile) c.372+2845G>A (n.372+2845G>A) | |
| 5 | g.149981196G>C | CA361708211 | SLC26A2 | c.1603G>C (p.Val535Leu) c.372+2845G>C (n.372+2845G>C) | |
| 5 | g.149981196G>T | CA361708212 | SLC26A2 | c.1603G>T (p.Val535Phe) c.372+2845G>T (n.372+2845G>T) | |
| 5 | g.149981200_149981203del | CA3505464 | SLC26A2 | c.1607_1610del (p.Cys536PhefsTer?) c.372+2849_372+2852del (n.372+2849_372+2852del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981197T>A | CA361708216 | SLC26A2 | c.1604T>A (p.Val535Asp) c.372+2846T>A (n.372+2846T>A) | |
| 5 | g.149981197T>C | CA361708214 | SLC26A2 | c.1604T>C (p.Val535Ala) c.372+2846T>C (n.372+2846T>C) | dbSNP |
| 5 | g.149981197T>G | CA361708215 | SLC26A2 | c.1604T>G (p.Val535Gly) c.372+2846T>G (n.372+2846T>G) | |
| 5 | g.149981197T= | CA1590738678 | SLC26A2 | c.1604T= (p.Val535=) c.372+2846T= (n.372+2846T=) | |
| 5 | g.149981198T>A | CA447402757 | SLC26A2 | c.1605T>A (p.Val535=) c.372+2847T>A (n.372+2847T>A) | |
| 5 | g.149981198T>C | CA447402756 | SLC26A2 | c.1605T>C (p.Val535=) c.372+2847T>C (n.372+2847T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981198T>G | CA447402755 | SLC26A2 | c.1605T>G (p.Val535=) c.372+2847T>G (n.372+2847T>G) | |
| 5 | g.149981198T= | CA1590738679 | SLC26A2 | c.1605T= (p.Val535=) c.372+2847T= (n.372+2847T=) | |
| 5 | g.149981199T>A | CA361708217 | SLC26A2 | c.1606T>A (p.Cys536Ser) c.372+2848T>A (n.372+2848T>A) | |
| 5 | g.149981199T>C | CA361708218 | SLC26A2 | c.1606T>C (p.Cys536Arg) c.372+2848T>C (n.372+2848T>C) | |
| 5 | g.149981199T>G | CA361708219 | SLC26A2 | c.1606T>G (p.Cys536Gly) c.372+2848T>G (n.372+2848T>G) | |
| 5 | g.149981200G>A | CA361708220 | SLC26A2 | c.1607G>A (p.Cys536Tyr) c.372+2849G>A (n.372+2849G>A) | dbSNP |
| 5 | g.149981200G>C | CA361708221 | SLC26A2 | c.1607G>C (p.Cys536Ser) c.372+2849G>C (n.372+2849G>C) | |
| 5 | g.149981200G>T | CA361708222 | SLC26A2 | c.1607G>T (p.Cys536Phe) c.372+2849G>T (n.372+2849G>T) | |
| 5 | g.149981200_149981201delinsGT | CA1590738680 | SLC26A2 | c.1607_1608delinsGT (p.Cys536=) c.372+2849_372+2850delinsGT (n.372+2849_372+2850delinsGT) | |
| 5 | g.149981201T>A | CA361708223 | SLC26A2 | c.1608T>A (p.Cys536Ter) c.372+2850T>A (n.372+2850T>A) | |
| 5 | g.149981201T>C | CA447402759 | SLC26A2 | c.1608T>C (p.Cys536=) c.372+2850T>C (n.372+2850T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981201T>G | CA361708224 | SLC26A2 | c.1608T>G (p.Cys536Trp) c.372+2850T>G (n.372+2850T>G) | |
| 5 | g.149981201T= | CA1590738682 | SLC26A2 | c.1608T= (p.Cys536=) c.372+2850T= (n.372+2850T=) | |
| 5 | g.149981205del | CA1590738681 | SLC26A2 | c.1612del (p.Ser538LeufsTer?) c.372+2854del (n.372+2854del) | dbSNP |
| 5 | g.149981202T>A | CA361708225 | SLC26A2 | c.1609T>A (p.Phe537Ile) c.372+2851T>A (n.372+2851T>A) | |
| 5 | g.149981202T>C | CA3505465 | SLC26A2 | c.1609T>C (p.Phe537Leu) c.372+2851T>C (n.372+2851T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981202T>G | CA361708226 | SLC26A2 | c.1609T>G (p.Phe537Val) c.372+2851T>G (n.372+2851T>G) | |
| 5 | g.149981202T= | CA1590738683 | SLC26A2 | c.1609T= (p.Phe537=) c.372+2851T= (n.372+2851T=) | |
| 5 | g.149981203T>A | CA361708227 | SLC26A2 | c.1610T>A (p.Phe537Tyr) c.372+2852T>A (n.372+2852T>A) | |
| 5 | g.149981203T>C | CA361708229 | SLC26A2 | c.1610T>C (p.Phe537Ser) c.372+2852T>C (n.372+2852T>C) | |
| 5 | g.149981203T>G | CA361708228 | SLC26A2 | c.1610T>G (p.Phe537Cys) c.372+2852T>G (n.372+2852T>G) | |
| 5 | g.149981204T>A | CA361708230 | SLC26A2 | c.1611T>A (p.Phe537Leu) c.372+2853T>A (n.372+2853T>A) | |
| 5 | g.149981204T>C | CA447402760 | SLC26A2 | c.1611T>C (p.Phe537=) c.372+2853T>C (n.372+2853T>C) | |
| 5 | g.149981204T>G | CA361708231 | SLC26A2 | c.1611T>G (p.Phe537Leu) c.372+2853T>G (n.372+2853T>G) | |
| 5 | g.149981205T>A | CA361708232 | SLC26A2 | c.1612T>A (p.Ser538Thr) c.372+2854T>A (n.372+2854T>A) | |
| 5 | g.149981205T>C | CA361708233 | SLC26A2 | c.1612T>C (p.Ser538Pro) c.372+2854T>C (n.372+2854T>C) | |
| 5 | g.149981205T>G | CA361708234 | SLC26A2 | c.1612T>G (p.Ser538Ala) c.372+2854T>G (n.372+2854T>G) | |
| 5 | g.149981206C>A | CA361708235 | SLC26A2 | c.1613C>A (p.Ser538Tyr) c.372+2855C>A (n.372+2855C>A) | |
| 5 | g.149981206C>G | CA361708236 | SLC26A2 | c.1613C>G (p.Ser538Cys) c.372+2855C>G (n.372+2855C>G) | |
| 5 | g.149981206C>T | CA361708237 | SLC26A2 | c.1613C>T (p.Ser538Phe) c.372+2855C>T (n.372+2855C>T) | |
| 5 | g.149981207T>A | CA447402766 | SLC26A2 | c.1614T>A (p.Ser538=) c.372+2856T>A (n.372+2856T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981207T>C | CA447402768 | SLC26A2 | c.1614T>C (p.Ser538=) c.372+2856T>C (n.372+2856T>C) | |
| 5 | g.149981207T>G | CA447402769 | SLC26A2 | c.1614T>G (p.Ser538=) c.372+2856T>G (n.372+2856T>G) | |
| 5 | g.149981207T= | CA1590738684 | SLC26A2 | c.1614T= (p.Ser538=) c.372+2856T= (n.372+2856T=) | |
| 5 | g.149981208A= | CA1590738685 | SLC26A2 | c.1615A= (p.Ile539=) c.372+2857A= (n.372+2857A=) | |
| 5 | g.149981208A>C | CA361708238 | SLC26A2 | c.1615A>C (p.Ile539Leu) c.372+2857A>C (n.372+2857A>C) | gnomAD v4 |
| 5 | g.149981208A>G | CA361708239 | SLC26A2 | c.1615A>G (p.Ile539Val) c.372+2857A>G (n.372+2857A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981208A>T | CA361708240 | SLC26A2 | c.1615A>T (p.Ile539Leu) c.372+2857A>T (n.372+2857A>T) | |
| 5 | g.149981209T>A | CA361708243 | SLC26A2 | c.1616T>A (p.Ile539Lys) c.372+2858T>A (n.372+2858T>A) | ClinVar gnomAD v4 |
| 5 | g.149981209T>C | CA361708242 | SLC26A2 | c.1616T>C (p.Ile539Thr) c.372+2858T>C (n.372+2858T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981209T>G | CA361708241 | SLC26A2 | c.1616T>G (p.Ile539Arg) c.372+2858T>G (n.372+2858T>G) | |
| 5 | g.149981209T= | CA1590738686 | SLC26A2 | c.1616T= (p.Ile539=) c.372+2858T= (n.372+2858T=) | |
| 5 | g.149981210A>C | CA447402771 | SLC26A2 | c.1617A>C (p.Ile539=) c.372+2859A>C (n.372+2859A>C) | |
| 5 | g.149981210A>G | CA361708244 | SLC26A2 | c.1617A>G (p.Ile539Met) c.372+2859A>G (n.372+2859A>G) | dbSNP |
| 5 | g.149981210A>T | CA447402772 | SLC26A2 | c.1617A>T (p.Ile539=) c.372+2859A>T (n.372+2859A>T) | |
| 5 | g.149981211T>A | CA361708247 | SLC26A2 | c.1618T>A (p.Phe540Ile) c.372+2860T>A (n.372+2860T>A) | |
| 5 | g.149981211T>C | CA361708245 | SLC26A2 | c.1618T>C (p.Phe540Leu) c.372+2860T>C (n.372+2860T>C) | gnomAD v4 |
| 5 | g.149981211T>G | CA361708246 | SLC26A2 | c.1618T>G (p.Phe540Val) c.372+2860T>G (n.372+2860T>G) | |
| 5 | g.149981212T>A | CA361708248 | SLC26A2 | c.1619T>A (p.Phe540Tyr) c.372+2861T>A (n.372+2861T>A) | |
| 5 | g.149981212T>C | CA361708249 | SLC26A2 | c.1619T>C (p.Phe540Ser) c.372+2861T>C (n.372+2861T>C) | |
| 5 | g.149981212T>G | CA361708250 | SLC26A2 | c.1619T>G (p.Phe540Cys) c.372+2861T>G (n.372+2861T>G) | |
| 5 | g.149981213T>A | CA361708251 | SLC26A2 | c.1620T>A (p.Phe540Leu) c.372+2862T>A (n.372+2862T>A) | |
| 5 | g.149981213T>C | CA447402774 | SLC26A2 | c.1620T>C (p.Phe540=) c.372+2862T>C (n.372+2862T>C) | |
| 5 | g.149981213T>G | CA3505466 | SLC26A2 | c.1620T>G (p.Phe540Leu) c.372+2862T>G (n.372+2862T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981213T= | CA1590738687 | SLC26A2 | c.1620T= (p.Phe540=) c.372+2862T= (n.372+2862T=) | |
| 5 | g.149981214T>A | CA361708252 | SLC26A2 | c.1621T>A (p.Cys541Ser) c.372+2863T>A (n.372+2863T>A) | |
| 5 | g.149981214T>C | CA361708253 | SLC26A2 | c.1621T>C (p.Cys541Arg) c.372+2863T>C (n.372+2863T>C) | |
| 5 | g.149981214T>G | CA361708254 | SLC26A2 | c.1621T>G (p.Cys541Gly) c.372+2863T>G (n.372+2863T>G) | |
| 5 | g.149981215G>A | CA361708255 | SLC26A2 | c.1622G>A (p.Cys541Tyr) c.372+2864G>A (n.372+2864G>A) | |
| 5 | g.149981215G>C | CA361708256 | SLC26A2 | c.1622G>C (p.Cys541Ser) c.372+2864G>C (n.372+2864G>C) | |
| 5 | g.149981215G>T | CA361708257 | SLC26A2 | c.1622G>T (p.Cys541Phe) c.372+2864G>T (n.372+2864G>T) | |
| 5 | g.149981216T>A | CA361708259 | SLC26A2 | c.1623T>A (p.Cys541Ter) c.372+2865T>A (n.372+2865T>A) | |
| 5 | g.149981216T>C | CA447402777 | SLC26A2 | c.1623T>C (p.Cys541=) c.372+2865T>C (n.372+2865T>C) | |
| 5 | g.149981216T>G | CA361708258 | SLC26A2 | c.1623T>G (p.Cys541Trp) c.372+2865T>G (n.372+2865T>G) | |
| 5 | g.149981217G>A | CA361708260 | SLC26A2 | c.1624G>A (p.Val542Ile) c.372+2866G>A (n.372+2866G>A) | |
| 5 | g.149981217G>C | CA361708261 | SLC26A2 | c.1624G>C (p.Val542Leu) c.372+2866G>C (n.372+2866G>C) | |
| 5 | g.149981217G>T | CA361708262 | SLC26A2 | c.1624G>T (p.Val542Phe) c.372+2866G>T (n.372+2866G>T) | |
| 5 | g.149981217_149981243delinsGTCATCCTCCGCACTCAGAAGCCAAAG | CA1590738688 | SLC26A2 | c.1624_1650delinsGTCATCCTCCGCACTCAGAAGCCAAAG (p.Val542=) c.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG (n.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG) | |
| 5 | g.149981218T>A | CA361708263 | SLC26A2 | c.1625T>A (p.Val542Asp) c.372+2867T>A (n.372+2867T>A) | |
| 5 | g.149981218T>C | CA361708264 | SLC26A2 | c.1625T>C (p.Val542Ala) c.372+2867T>C (n.372+2867T>C) | |
| 5 | g.149981218T>G | CA361708265 | SLC26A2 | c.1625T>G (p.Val542Gly) c.372+2867T>G (n.372+2867T>G) | |
| 5 | g.149981218_149981243delinsAACACCA | CA1139659141 | SLC26A2 | c.1625_1650delinsAACACCA (p.Val542GlufsTer?) c.372+2867_372+2892delinsAACACCA (n.372+2867_372+2892delinsAACACCA) | ClinVar dbSNP |
| 5 | g.149981219C>A | CA447402784 | SLC26A2 | c.1626C>A (p.Val542=) c.372+2868C>A (n.372+2868C>A) | |
| 5 | g.149981219C= | CA1590738689 | SLC26A2 | c.1626C= (p.Val542=) c.372+2868C= (n.372+2868C=) | |
| 5 | g.149981219C>G | CA129084479 | SLC26A2 | c.1626C>G (p.Val542=) c.372+2868C>G (n.372+2868C>G) | dbSNP |
| 5 | g.149981219C>T | CA447402782 | SLC26A2 | c.1626C>T (p.Val542=) c.372+2868C>T (n.372+2868C>T) | |
| 5 | g.149981220A>C | CA361708266 | SLC26A2 | c.1627A>C (p.Ile543Leu) c.372+2869A>C (n.372+2869A>C) | |
| 5 | g.149981220A>G | CA361708267 | SLC26A2 | c.1627A>G (p.Ile543Val) c.372+2869A>G (n.372+2869A>G) | |
| 5 | g.149981220A>T | CA361708268 | SLC26A2 | c.1627A>T (p.Ile543Phe) c.372+2869A>T (n.372+2869A>T) | |
| 5 | g.149981221T>A | CA361708269 | SLC26A2 | c.1628T>A (p.Ile543Asn) c.372+2870T>A (n.372+2870T>A) | |
| 5 | g.149981221T>C | CA361708270 | SLC26A2 | c.1628T>C (p.Ile543Thr) c.372+2870T>C (n.372+2870T>C) | |
| 5 | g.149981221T>G | CA361708271 | SLC26A2 | c.1628T>G (p.Ile543Ser) c.372+2870T>G (n.372+2870T>G) | |
| 5 | g.149981222C>A | CA447402785 | SLC26A2 | c.1629C>A (p.Ile543=) c.372+2871C>A (n.372+2871C>A) | |
| 5 | g.149981222C= | CA1590738690 | SLC26A2 | c.1629C= (p.Ile543=) c.372+2871C= (n.372+2871C=) | |
| 5 | g.149981222C>G | CA361708272 | SLC26A2 | c.1629C>G (p.Ile543Met) c.372+2871C>G (n.372+2871C>G) | |
| 5 | g.149981222C>T | CA3505467 | SLC26A2 | c.1629C>T (p.Ile543=) c.372+2871C>T (n.372+2871C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981223del | CA2580073925 | SLC26A2 | c.1630del (p.Leu544SerfsTer?) c.372+2872del (n.372+2872del) | ClinVar |
| 5 | g.149981223C>A | CA361708273 | SLC26A2 | c.1630C>A (p.Leu544Ile) c.372+2872C>A (n.372+2872C>A) | dbSNP |
| 5 | g.149981223C= | CA1590738691 | SLC26A2 | c.1630C= (p.Leu544=) c.372+2872C= (n.372+2872C=) | |
| 5 | g.149981223C>G | CA361708274 | SLC26A2 | c.1630C>G (p.Leu544Val) c.372+2872C>G (n.372+2872C>G) | |
| 5 | g.149981223C>T | CA361708275 | SLC26A2 | c.1630C>T (p.Leu544Phe) c.372+2872C>T (n.372+2872C>T) | |
| 5 | g.149981224T>A | CA361708276 | SLC26A2 | c.1631T>A (p.Leu544His) c.372+2873T>A (n.372+2873T>A) | |
| 5 | g.149981224T>C | CA361708277 | SLC26A2 | c.1631T>C (p.Leu544Pro) c.372+2873T>C (n.372+2873T>C) | |
| 5 | g.149981224T>G | CA361708278 | SLC26A2 | c.1631T>G (p.Leu544Arg) c.372+2873T>G (n.372+2873T>G) | |
| 5 | g.149981225C>A | CA447402789 | SLC26A2 | c.1632C>A (p.Leu544=) c.372+2874C>A (n.372+2874C>A) | ClinVar |
| 5 | g.149981225C= | CA1590738692 | SLC26A2 | c.1632C= (p.Leu544=) c.372+2874C= (n.372+2874C=) | |
| 5 | g.149981225C>G | CA447402790 | SLC26A2 | c.1632C>G (p.Leu544=) c.372+2874C>G (n.372+2874C>G) | ClinVar dbSNP |
| 5 | g.149981225C>T | CA447402792 | SLC26A2 | c.1632C>T (p.Leu544=) c.372+2874C>T (n.372+2874C>T) | |
| 5 | g.149981226C>A | CA361708280 | SLC26A2 | c.1633C>A (p.Arg545Ser) c.372+2875C>A (n.372+2875C>A) | gnomAD v4 |
| 5 | g.149981226C= | CA1590738693 | SLC26A2 | c.1633C= (p.Arg545=) c.372+2875C= (n.372+2875C=) | |
| 5 | g.149981226C>G | CA361708279 | SLC26A2 | c.1633C>G (p.Arg545Gly) c.372+2875C>G (n.372+2875C>G) | |
| 5 | g.149981226C>T | CA3505468 | SLC26A2 | c.1633C>T (p.Arg545Cys) c.372+2875C>T (n.372+2875C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981227G>A | CA3505469 | SLC26A2 | c.1634G>A (p.Arg545His) c.372+2876G>A (n.372+2876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981227G>C | CA361708281 | SLC26A2 | c.1634G>C (p.Arg545Pro) c.372+2876G>C (n.372+2876G>C) | |
| 5 | g.149981227G= | CA1590738694 | SLC26A2 | c.1634G= (p.Arg545=) c.372+2876G= (n.372+2876G=) | |
| 5 | g.149981227G>T | CA361708282 | SLC26A2 | c.1634G>T (p.Arg545Leu) c.372+2876G>T (n.372+2876G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981228C>A | CA447402796 | SLC26A2 | c.1635C>A (p.Arg545=) c.372+2877C>A (n.372+2877C>A) | |
| 5 | g.149981228C>G | CA447402797 | SLC26A2 | c.1635C>G (p.Arg545=) c.372+2877C>G (n.372+2877C>G) | |
| 5 | g.149981228C>T | CA447402798 | SLC26A2 | c.1635C>T (p.Arg545=) c.372+2877C>T (n.372+2877C>T) | |
| 5 | g.149981229A= | CA1590738695 | SLC26A2 | c.1636A= (p.Thr546=) c.372+2878A= (n.372+2878A=) | |
| 5 | g.149981229A>C | CA361708283 | SLC26A2 | c.1636A>C (p.Thr546Pro) c.372+2878A>C (n.372+2878A>C) | |
| 5 | g.149981229A>G | CA3505470 | SLC26A2 | c.1636A>G (p.Thr546Ala) c.372+2878A>G (n.372+2878A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981229A>T | CA361708284 | SLC26A2 | c.1636A>T (p.Thr546Ser) c.372+2878A>T (n.372+2878A>T) | |
| 5 | g.149981230C>A | CA361708285 | SLC26A2 | c.1637C>A (p.Thr546Asn) c.372+2879C>A (n.372+2879C>A) | |
| 5 | g.149981230C>G | CA361708287 | SLC26A2 | c.1637C>G (p.Thr546Ser) c.372+2879C>G (n.372+2879C>G) | |
| 5 | g.149981230C>T | CA361708286 | SLC26A2 | c.1637C>T (p.Thr546Ile) c.372+2879C>T (n.372+2879C>T) | dbSNP |
| 5 | g.149981231T>A | CA447402801 | SLC26A2 | c.1638T>A (p.Thr546=) c.372+2880T>A (n.372+2880T>A) | |
| 5 | g.149981231T>C | CA447402802 | SLC26A2 | c.1638T>C (p.Thr546=) c.372+2880T>C (n.372+2880T>C) | |
| 5 | g.149981231T>G | CA447402804 | SLC26A2 | c.1638T>G (p.Thr546=) c.372+2880T>G (n.372+2880T>G) | |
| 5 | g.149981232C>A | CA361708288 | SLC26A2 | c.1639C>A (p.Gln547Lys) c.372+2881C>A (n.372+2881C>A) | |
| 5 | g.149981232C= | CA1590738696 | SLC26A2 | c.1639C= (p.Gln547=) c.372+2881C= (n.372+2881C=) | |
| 5 | g.149981232C>G | CA361708289 | SLC26A2 | c.1639C>G (p.Gln547Glu) c.372+2881C>G (n.372+2881C>G) | |
| 5 | g.149981232C>T | CA3505471 | SLC26A2 | c.1639C>T (p.Gln547Ter) c.372+2881C>T (n.372+2881C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981233A>C | CA361708290 | SLC26A2 | c.1640A>C (p.Gln547Pro) c.372+2882A>C (n.372+2882A>C) | |
| 5 | g.149981233A>G | CA361708291 | SLC26A2 | c.1640A>G (p.Gln547Arg) c.372+2882A>G (n.372+2882A>G) | |
| 5 | g.149981233A>T | CA361708292 | SLC26A2 | c.1640A>T (p.Gln547Leu) c.372+2882A>T (n.372+2882A>T) | |
| 5 | g.149981234G>A | CA447402808 | SLC26A2 | c.1641G>A (p.Gln547=) c.372+2883G>A (n.372+2883G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981234G>C | CA361708293 | SLC26A2 | c.1641G>C (p.Gln547His) c.372+2883G>C (n.372+2883G>C) | |
| 5 | g.149981234G= | CA1590738697 | SLC26A2 | c.1641G= (p.Gln547=) c.372+2883G= (n.372+2883G=) | |
| 5 | g.149981234G>T | CA361708294 | SLC26A2 | c.1641G>T (p.Gln547His) c.372+2883G>T (n.372+2883G>T) | |
| 5 | g.149981235A>C | CA361708295 | SLC26A2 | c.1642A>C (p.Lys548Gln) c.372+2884A>C (n.372+2884A>C) | |
| 5 | g.149981235A>G | CA361708296 | SLC26A2 | c.1642A>G (p.Lys548Glu) c.372+2884A>G (n.372+2884A>G) | |
| 5 | g.149981235A>T | CA361708297 | SLC26A2 | c.1642A>T (p.Lys548Ter) c.372+2884A>T (n.372+2884A>T) | |
| 5 | g.149981236A>C | CA361708300 | SLC26A2 | c.1643A>C (p.Lys548Thr) c.372+2885A>C (n.372+2885A>C) | |
| 5 | g.149981236A>G | CA361708298 | SLC26A2 | c.1643A>G (p.Lys548Arg) c.372+2885A>G (n.372+2885A>G) | |
| 5 | g.149981236A>T | CA361708299 | SLC26A2 | c.1643A>T (p.Lys548Met) c.372+2885A>T (n.372+2885A>T) | |
| 5 | g.149981237G>A | CA447402812 | SLC26A2 | c.1644G>A (p.Lys548=) c.372+2886G>A (n.372+2886G>A) | ClinVar dbSNP |
| 5 | g.149981237G>C | CA361708301 | SLC26A2 | c.1644G>C (p.Lys548Asn) c.372+2886G>C (n.372+2886G>C) | |
| 5 | g.149981237G>T | CA361708302 | SLC26A2 | c.1644G>T (p.Lys548Asn) c.372+2886G>T (n.372+2886G>T) | |
| 5 | g.149981238C>A | CA361708303 | SLC26A2 | c.1645C>A (p.Pro549Thr) c.372+2887C>A (n.372+2887C>A) | |
| 5 | g.149981238C>G | CA361708304 | SLC26A2 | c.1645C>G (p.Pro549Ala) c.372+2887C>G (n.372+2887C>G) | |
| 5 | g.149981238C>T | CA361708305 | SLC26A2 | c.1645C>T (p.Pro549Ser) c.372+2887C>T (n.372+2887C>T) | |
| 5 | g.149981239C>A | CA361708306 | SLC26A2 | c.1646C>A (p.Pro549Gln) c.372+2888C>A (n.372+2888C>A) | |
| 5 | g.149981239C= | CA1590738698 | SLC26A2 | c.1646C= (p.Pro549=) c.372+2888C= (n.372+2888C=) | |
| 5 | g.149981239C>G | CA361708307 | SLC26A2 | c.1646C>G (p.Pro549Arg) c.372+2888C>G (n.372+2888C>G) | |
| 5 | g.149981239C>T | CA129084531 | SLC26A2 | c.1646C>T (p.Pro549Leu) c.372+2888C>T (n.372+2888C>T) | dbSNP |
| 5 | g.149981239_149981240delinsCA | CA1590738699 | SLC26A2 | c.1646_1647delinsCA (p.Pro549=) c.372+2888_372+2889delinsCA (n.372+2888_372+2889delinsCA) | |
| 5 | g.149981240A= | CA1590738700 | SLC26A2 | c.1647A= (p.Pro549=) c.372+2889A= (n.372+2889A=) | |
| 5 | g.149981240A>C | CA447402814 | SLC26A2 | c.1647A>C (p.Pro549=) c.372+2889A>C (n.372+2889A>C) | |
| 5 | g.149981240A>G | CA3505472 | SLC26A2 | c.1647A>G (p.Pro549=) c.372+2889A>G (n.372+2889A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981240A>T | CA447402813 | SLC26A2 | c.1647A>T (p.Pro549=) c.372+2889A>T (n.372+2889A>T) | |
| 5 | g.149981242del | CA16040998 | SLC26A2 | c.1649del (p.Lys550ArgfsTer?) c.372+2891del (n.372+2891del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981241A>C | CA361708310 | SLC26A2 | c.1648A>C (p.Lys550Gln) c.372+2890A>C (n.372+2890A>C) | gnomAD v4 |
| 5 | g.149981241A>G | CA361708308 | SLC26A2 | c.1648A>G (p.Lys550Glu) c.372+2890A>G (n.372+2890A>G) | gnomAD v4 |
| 5 | g.149981241A>T | CA361708309 | SLC26A2 | c.1648A>T (p.Lys550Ter) c.372+2890A>T (n.372+2890A>T) | |
| 5 | g.149981242A= | CA1590738702 | SLC26A2 | c.1649A= (p.Lys550=) c.372+2891A= (n.372+2891A=) | |
| 5 | g.149981242A>C | CA361708311 | SLC26A2 | c.1649A>C (p.Lys550Thr) c.372+2891A>C (n.372+2891A>C) | dbSNP gnomAD v4 |
| 5 | g.149981242A>G | CA361708312 | SLC26A2 | c.1649A>G (p.Lys550Arg) c.372+2891A>G (n.372+2891A>G) | gnomAD v4 |
| 5 | g.149981242A>T | CA361708313 | SLC26A2 | c.1649A>T (p.Lys550Met) c.372+2891A>T (n.372+2891A>T) | |
| 5 | g.149981242_149981243delinsAG | CA1590738701 | SLC26A2 | c.1649_1650delinsAG (p.Lys550=) c.372+2891_372+2892delinsAG (n.372+2891_372+2892delinsAG) | |
| 5 | g.149981243del | CA263255 | SLC26A2 | c.1650del (p.Ser551ValfsTer?) c.372+2892del (n.372+2892del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981243G>A | CA447402816 | SLC26A2 | c.1650G>A (p.Lys550=) c.372+2892G>A (n.372+2892G>A) | |
| 5 | g.149981243G>C | CA361708314 | SLC26A2 | c.1650G>C (p.Lys550Asn) c.372+2892G>C (n.372+2892G>C) | |
| 5 | g.149981243G>T | CA361708315 | SLC26A2 | c.1650G>T (p.Lys550Asn) c.372+2892G>T (n.372+2892G>T) | gnomAD v4 |
| 5 | g.149981244A>C | CA361708318 | SLC26A2 | c.1651A>C (p.Ser551Arg) c.372+2893A>C (n.372+2893A>C) | |
| 5 | g.149981244A>G | CA361708316 | SLC26A2 | c.1651A>G (p.Ser551Gly) c.372+2893A>G (n.372+2893A>G) | |
| 5 | g.149981244A>T | CA361708317 | SLC26A2 | c.1651A>T (p.Ser551Cys) c.372+2893A>T (n.372+2893A>T) | gnomAD v4 |
| 5 | g.149981245G>A | CA361708319 | SLC26A2 | c.1652G>A (p.Ser551Asn) c.372+2894G>A (n.372+2894G>A) | |
| 5 | g.149981245G>C | CA361708320 | SLC26A2 | c.1652G>C (p.Ser551Thr) c.372+2894G>C (n.372+2894G>C) | |
| 5 | g.149981245G>T | CA361708321 | SLC26A2 | c.1652G>T (p.Ser551Ile) c.372+2894G>T (n.372+2894G>T) | |
| 5 | g.149981246T>A | CA361708322 | SLC26A2 | c.1653T>A (p.Ser551Arg) c.372+2895T>A (n.372+2895T>A) | |
| 5 | g.149981246T>C | CA447402817 | SLC26A2 | c.1653T>C (p.Ser551=) c.372+2895T>C (n.372+2895T>C) | gnomAD v4 |
| 5 | g.149981246T>G | CA361708323 | SLC26A2 | c.1653T>G (p.Ser551Arg) c.372+2895T>G (n.372+2895T>G) | |
| 5 | g.149981247del | CA2675943652 | SLC26A2 | c.1654del (p.Ser552HisfsTer?) c.372+2896del (n.372+2896del) | gnomAD v4 |
| 5 | g.149981247T>A | CA361708324 | SLC26A2 | c.1654T>A (p.Ser552Thr) c.372+2896T>A (n.372+2896T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981247T>C | CA361708325 | SLC26A2 | c.1654T>C (p.Ser552Pro) c.372+2896T>C (n.372+2896T>C) | |
| 5 | g.149981247T>G | CA361708326 | SLC26A2 | c.1654T>G (p.Ser552Ala) c.372+2896T>G (n.372+2896T>G) | |
| 5 | g.149981247T= | CA1590738703 | SLC26A2 | c.1654T= (p.Ser552=) c.372+2896T= (n.372+2896T=) |