| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107701123T>A | CA368842862 | SLC26A4 | c.1730T>A (p.Val577Glu) c.441T>A n.579T>A n.91-704T>A c.1652T>A (p.Val551Glu) | |
| 7 | g.107701123T>C | CA240658 | SLC26A4 | c.1730T>C (p.Val577Ala) c.441T>C n.579T>C n.91-704T>C c.1652T>C (p.Val551Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701123T>G | CA4432933 | SLC26A4 | c.1730T>G (p.Val577Gly) c.441T>G n.579T>G n.91-704T>G c.1652T>G (p.Val551Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107701123T= | CA1732758377 | SLC26A4 | c.1730T= (p.Val577=) c.441T= n.579T= n.91-704T= c.1652T= (p.Val551=) | |
| 7 | g.107701124A= | CA1732758392 | SLC26A4 | c.1731A= (p.Val577=) c.442A= n.580A= n.91-703A= c.1653A= (p.Val551=) | |
| 7 | g.107701124A>C | CA457102002 | SLC26A4 | c.1731A>C (p.Val577=) c.442A>C n.580A>C n.91-703A>C c.1653A>C (p.Val551=) | |
| 7 | g.107701124A>G | CA4432934 | SLC26A4 | c.1731A>G (p.Val577=) c.442A>G n.580A>G n.91-703A>G c.1653A>G (p.Val551=) | dbSNP ExAC gnomAD v2 |
| 7 | g.107701124A>T | CA457102008 | SLC26A4 | c.1731A>T (p.Val577=) c.442A>T n.580A>T n.91-703A>T c.1653A>T (p.Val551=) | |
| 7 | g.107701125T>A | CA368842863 | SLC26A4 | c.1732T>A (p.Tyr578Asn) c.443T>A n.581T>A n.91-702T>A c.1654T>A (p.Tyr552Asn) | |
| 7 | g.107701125T>C | CA4432936 | SLC26A4 | c.1732T>C (p.Tyr578His) c.443T>C n.581T>C n.91-702T>C c.1654T>C (p.Tyr552His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701125T>G | CA368842864 | SLC26A4 | c.1732T>G (p.Tyr578Asp) c.443T>G n.581T>G n.91-702T>G c.1654T>G (p.Tyr552Asp) | |
| 7 | g.107701125T= | CA1732758398 | SLC26A4 | c.1732T= (p.Tyr578=) c.443T= n.581T= n.91-702T= c.1654T= (p.Tyr552=) | |
| 7 | g.107701125_107701128delinsTATA | CA1732758396 | SLC26A4 | c.1732_1735delinsTATA (p.Tyr578=) c.443_446delinsTATA n.581_584delinsTATA n.91-702_91-699delinsTATA c.1654_1657delinsTATA (p.Tyr552=) | |
| 7 | g.107701126A= | CA1732758404 | SLC26A4 | c.1733A= (p.Tyr578=) c.444A= n.582A= n.91-701A= c.1655A= (p.Tyr552=) | |
| 7 | g.107701126A>C | CA368842865 | SLC26A4 | c.1733A>C (p.Tyr578Ser) c.444A>C n.582A>C n.91-701A>C c.1655A>C (p.Tyr552Ser) | |
| 7 | g.107701126A>G | CA4432937 | SLC26A4 | c.1733A>G (p.Tyr578Cys) c.444A>G n.582A>G n.91-701A>G c.1655A>G (p.Tyr552Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701126A>T | CA368842866 | SLC26A4 | c.1733A>T (p.Tyr578Phe) c.444A>T n.582A>T n.91-701A>T c.1655A>T (p.Tyr552Phe) | |
| 7 | g.107701130_107701132del | CA4432935 | SLC26A4 | c.1737_1739del (p.Asn579del) c.448_450del n.586_588del n.91-697_91-695del c.1659_1661del (p.Asn553del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701127T>A | CA368842867 | SLC26A4 | c.1734T>A (p.Tyr578Ter) c.445T>A n.583T>A n.91-700T>A c.1656T>A (p.Tyr552Ter) | |
| 7 | g.107701127T>C | CA457102030 | SLC26A4 | c.1734T>C (p.Tyr578=) c.445T>C n.583T>C n.91-700T>C c.1656T>C (p.Tyr552=) | gnomAD v4 |
| 7 | g.107701127T>G | CA368842868 | SLC26A4 | c.1734T>G (p.Tyr578Ter) c.445T>G n.583T>G n.91-700T>G c.1656T>G (p.Tyr552Ter) | |
| 7 | g.107701128A>C | CA368842869 | SLC26A4 | c.1735A>C (p.Asn579His) c.446A>C n.584A>C n.91-699A>C c.1657A>C (p.Asn553His) | |
| 7 | g.107701128A>G | CA368842870 | SLC26A4 | c.1735A>G (p.Asn579Asp) c.446A>G n.584A>G n.91-699A>G c.1657A>G (p.Asn553Asp) | |
| 7 | g.107701128A>T | CA368842871 | SLC26A4 | c.1735A>T (p.Asn579Tyr) c.446A>T n.584A>T n.91-699A>T c.1657A>T (p.Asn553Tyr) | |
| 7 | g.107701129A>C | CA368842873 | SLC26A4 | c.1736A>C (p.Asn579Thr) c.447A>C n.585A>C n.91-698A>C c.1658A>C (p.Asn553Thr) | |
| 7 | g.107701129A>G | CA368842874 | SLC26A4 | c.1736A>G (p.Asn579Ser) c.447A>G n.585A>G n.91-698A>G c.1658A>G (p.Asn553Ser) | ClinVar gnomAD v4 |
| 7 | g.107701129A>T | CA368842872 | SLC26A4 | c.1736A>T (p.Asn579Ile) c.447A>T n.585A>T n.91-698A>T c.1658A>T (p.Asn553Ile) | |
| 7 | g.107701130T>A | CA368842876 | SLC26A4 | c.1737T>A (p.Asn579Lys) c.448T>A n.586T>A n.91-697T>A c.1659T>A (p.Asn553Lys) | |
| 7 | g.107701130T>C | CA457102049 | SLC26A4 | c.1737T>C (p.Asn579=) c.448T>C n.586T>C n.91-697T>C c.1659T>C (p.Asn553=) | |
| 7 | g.107701130T>G | CA368842875 | SLC26A4 | c.1737T>G (p.Asn579Lys) c.448T>G n.586T>G n.91-697T>G c.1659T>G (p.Asn553Lys) | |
| 7 | g.107701131A>C | CA368842877 | SLC26A4 | c.1738A>C (p.Lys580Gln) c.449A>C n.587A>C n.91-696A>C c.1660A>C (p.Lys554Gln) | |
| 7 | g.107701131A>G | CA368842878 | SLC26A4 | c.1738A>G (p.Lys580Glu) c.449A>G n.587A>G n.91-696A>G c.1660A>G (p.Lys554Glu) | |
| 7 | g.107701131A>T | CA368842879 | SLC26A4 | c.1738A>T (p.Lys580Ter) c.449A>T n.587A>T n.91-696A>T c.1660A>T (p.Lys554Ter) | |
| 7 | g.107701131_107701132del | CA2695208261 | SLC26A4 | c.1738_1739del (p.Lys580GlufsTer27) c.449_450del n.587_588del n.91-696_91-695del c.1660_1661del (p.Lys554GlufsTer27) | |
| 7 | g.107701131_107701133delinsAAG | CA1732758407 | SLC26A4 | c.1738_1740delinsAAG (p.Lys580=) c.449_451delinsAAG n.587_589delinsAAG n.91-696_91-694delinsAAG c.1660_1662delinsAAG (p.Lys554=) | |
| 7 | g.107701132_107701134del | CA913111819 | SLC26A4 | c.1739_1741del (p.Lys580del) c.450_452del n.588_590del n.91-695_91-693del c.1661_1663del (p.Lys554del) | |
| 7 | g.107701132A>C | CA368842880 | SLC26A4 | c.1739A>C (p.Lys580Thr) c.450A>C n.588A>C n.91-695A>C c.1661A>C (p.Lys554Thr) | |
| 7 | g.107701132A>G | CA368842881 | SLC26A4 | c.1739A>G (p.Lys580Arg) c.450A>G n.588A>G n.91-695A>G c.1661A>G (p.Lys554Arg) | |
| 7 | g.107701132A>T | CA368842882 | SLC26A4 | c.1739A>T (p.Lys580Met) c.450A>T n.588A>T n.91-695A>T c.1661A>T (p.Lys554Met) | |
| 7 | g.107701134_107701135del | CA658821810 | SLC26A4 | c.1741_1742del (p.Arg581AlafsTer26) c.452_453del n.590_591del n.91-693_91-692del c.1663_1664del (p.Arg555AlafsTer26) | ClinVar dbSNP |
| 7 | g.107701133G>A | CA4432938 | SLC26A4 | c.1740G>A (p.Lys580=) c.451G>A n.589G>A n.91-694G>A c.1662G>A (p.Lys554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701133G>C | CA368842883 | SLC26A4 | c.1740G>C (p.Lys580Asn) c.451G>C n.589G>C n.91-694G>C c.1662G>C (p.Lys554Asn) | dbSNP |
| 7 | g.107701133G= | CA1732758422 | SLC26A4 | c.1740G= (p.Lys580=) c.451G= n.589G= n.91-694G= c.1662G= (p.Lys554=) | |
| 7 | g.107701133G>T | CA368842884 | SLC26A4 | c.1740G>T (p.Lys580Asn) c.451G>T n.589G>T n.91-694G>T c.1662G>T (p.Lys554Asn) | |
| 7 | g.107701134A= | CA1732758432 | SLC26A4 | c.1741A= (p.Arg581=) c.452A= n.590A= n.91-693A= c.1663A= (p.Arg555=) | |
| 7 | g.107701134A>C | CA457102066 | SLC26A4 | c.1741A>C (p.Arg581=) c.452A>C n.590A>C n.91-693A>C c.1663A>C (p.Arg555=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107701134A>G | CA368842885 | SLC26A4 | c.1741A>G (p.Arg581Gly) c.452A>G n.590A>G n.91-693A>G c.1663A>G (p.Arg555Gly) | |
| 7 | g.107701134A>T | CA368842886 | SLC26A4 | c.1741A>T (p.Arg581Trp) c.452A>T n.590A>T n.91-693A>T c.1663A>T (p.Arg555Trp) | |
| 7 | g.107701135G>A | CA368842889 | SLC26A4 | c.1742G>A (p.Arg581Lys) c.453G>A n.591G>A n.91-692G>A c.1664G>A (p.Arg555Lys) | |
| 7 | g.107701135G>C | CA368842887 | SLC26A4 | c.1742G>C (p.Arg581Thr) c.453G>C n.591G>C n.91-692G>C c.1664G>C (p.Arg555Thr) |