| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977759G>A | CA361704003 | SLC26A2 | n.339G>A c.107G>A (p.Ser36Asn) | dbSNP |
| 5 | g.149977759G>C | CA361704000 | SLC26A2 | n.339G>C c.107G>C (p.Ser36Thr) | |
| 5 | g.149977759G= | CA1590737272 | SLC26A2 | n.339G= c.107G= (p.Ser36=) | |
| 5 | g.149977759G>T | CA361704001 | SLC26A2 | n.339G>T c.107G>T (p.Ser36Ile) | |
| 5 | g.149977760T>A | CA3505200 | SLC26A2 | n.340T>A c.108T>A (p.Ser36Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977760T>C | CA447401653 | SLC26A2 | n.340T>C c.108T>C (p.Ser36=) | |
| 5 | g.149977760T>G | CA361704004 | SLC26A2 | n.340T>G c.108T>G (p.Ser36Arg) | |
| 5 | g.149977760T= | CA1590737273 | SLC26A2 | n.340T= c.108T= (p.Ser36=) | |
| 5 | g.149977761A= | CA1590737274 | SLC26A2 | n.341A= c.109A= (p.Thr37=) | |
| 5 | g.149977761A>C | CA361704006 | SLC26A2 | n.341A>C c.109A>C (p.Thr37Pro) | |
| 5 | g.149977761A>G | CA361704008 | SLC26A2 | n.341A>G c.109A>G (p.Thr37Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977761A>T | CA361704010 | SLC26A2 | n.341A>T c.109A>T (p.Thr37Ser) | gnomAD v4 |
| 5 | g.149977762del | CA2580073855 | SLC26A2 | n.342del c.110del (p.Thr37MetfsTer?) | ClinVar |
| 5 | g.149977762C>A | CA361704012 | SLC26A2 | n.342C>A c.110C>A (p.Thr37Asn) | |
| 5 | g.149977762C>G | CA361704013 | SLC26A2 | n.342C>G c.110C>G (p.Thr37Ser) | |
| 5 | g.149977762C>T | CA361704015 | SLC26A2 | n.342C>T c.110C>T (p.Thr37Ile) | |
| 5 | g.149977762_149977763delinsCT | CA1590737275 | SLC26A2 | n.342_343delinsCT c.110_111delinsCT (p.Thr37=) | |
| 5 | g.149977763del | CA563955668 | SLC26A2 | n.343del c.111del (p.Asp38ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977763T>A | CA447401655 | SLC26A2 | n.343T>A c.111T>A (p.Thr37=) | |
| 5 | g.149977763T>C | CA447401656 | SLC26A2 | n.343T>C c.111T>C (p.Thr37=) | |
| 5 | g.149977763T>G | CA447401658 | SLC26A2 | n.343T>G c.111T>G (p.Thr37=) | |
| 5 | g.149977764G>A | CA3505201 | SLC26A2 | n.344G>A c.112G>A (p.Asp38Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977764G>C | CA361704017 | SLC26A2 | n.344G>C c.112G>C (p.Asp38His) | |
| 5 | g.149977764G= | CA1590737276 | SLC26A2 | n.344G= c.112G= (p.Asp38=) | |
| 5 | g.149977764G>T | CA361704018 | SLC26A2 | n.344G>T c.112G>T (p.Asp38Tyr) | dbSNP gnomAD v4 |
| 5 | g.149977765A>C | CA361704019 | SLC26A2 | n.345A>C c.113A>C (p.Asp38Ala) | |
| 5 | g.149977765A>G | CA361704023 | SLC26A2 | n.345A>G c.113A>G (p.Asp38Gly) | |
| 5 | g.149977765A>T | CA361704021 | SLC26A2 | n.345A>T c.113A>T (p.Asp38Val) | |
| 5 | g.149977766C>A | CA361704024 | SLC26A2 | n.346C>A c.114C>A (p.Asp38Glu) | |
| 5 | g.149977766C= | CA1590737277 | SLC26A2 | n.346C= c.114C= (p.Asp38=) | |
| 5 | g.149977766C>G | CA361704025 | SLC26A2 | n.346C>G c.114C>G (p.Asp38Glu) | |
| 5 | g.149977766C>T | CA3505202 | SLC26A2 | n.346C>T c.114C>T (p.Asp38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977767T>A | CA361704026 | SLC26A2 | n.347T>A c.115T>A (p.Phe39Ile) | |
| 5 | g.149977767T>C | CA3505203 | SLC26A2 | n.347T>C c.115T>C (p.Phe39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977767T>G | CA361704028 | SLC26A2 | n.347T>G c.115T>G (p.Phe39Val) | |
| 5 | g.149977767T= | CA1590737278 | SLC26A2 | n.347T= c.115T= (p.Phe39=) | |
| 5 | g.149977768T>A | CA361704030 | SLC26A2 | n.348T>A c.116T>A (p.Phe39Tyr) | |
| 5 | g.149977768T>C | CA361704032 | SLC26A2 | n.348T>C c.116T>C (p.Phe39Ser) | |
| 5 | g.149977768T>G | CA361704031 | SLC26A2 | n.348T>G c.116T>G (p.Phe39Cys) | |
| 5 | g.149977769C>A | CA361704033 | SLC26A2 | n.349C>A c.117C>A (p.Phe39Leu) | |
| 5 | g.149977769C= | CA1590737279 | SLC26A2 | n.349C= c.117C= (p.Phe39=) | |
| 5 | g.149977769C>G | CA3505204 | SLC26A2 | n.349C>G c.117C>G (p.Phe39Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977769C>T | CA447401660 | SLC26A2 | n.349C>T c.117C>T (p.Phe39=) | ClinVar dbSNP |
| 5 | g.149977770A>C | CA361704036 | SLC26A2 | n.350A>C c.118A>C (p.Lys40Gln) | gnomAD v4 |
| 5 | g.149977770A>G | CA361704037 | SLC26A2 | n.350A>G c.118A>G (p.Lys40Glu) | |
| 5 | g.149977770A>T | CA361704038 | SLC26A2 | n.350A>T c.118A>T (p.Lys40Ter) | ClinVar |
| 5 | g.149977771A= | CA1590737280 | SLC26A2 | n.351A= c.119A= (p.Lys40=) | |
| 5 | g.149977771A>C | CA361704041 | SLC26A2 | n.351A>C c.119A>C (p.Lys40Thr) | |
| 5 | g.149977771A>G | CA3505205 | SLC26A2 | n.351A>G c.119A>G (p.Lys40Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977771A>T | CA361704043 | SLC26A2 | n.351A>T c.119A>T (p.Lys40Met) |