| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977938_149977939del | CA2675943465 | SLC26A2 | n.518_519del c.286_287del (p.Leu96AlafsTer?) | gnomAD v4 |
| 5 | g.149977938T>A | CA361704664 | SLC26A2 | n.518T>A c.286T>A (p.Leu96Met) | gnomAD v4 |
| 5 | g.149977938T>C | CA447401858 | SLC26A2 | n.518T>C c.286T>C (p.Leu96=) | |
| 5 | g.149977938T>G | CA361704665 | SLC26A2 | n.518T>G c.286T>G (p.Leu96Val) | |
| 5 | g.149977939T>A | CA361704666 | SLC26A2 | n.519T>A c.287T>A (p.Leu96Ter) | |
| 5 | g.149977939T>C | CA361704668 | SLC26A2 | n.519T>C c.287T>C (p.Leu96Ser) | |
| 5 | g.149977939T>G | CA361704667 | SLC26A2 | n.519T>G c.287T>G (p.Leu96Trp) | |
| 5 | g.149977940G>A | CA447401859 | SLC26A2 | n.520G>A c.288G>A (p.Leu96=) | |
| 5 | g.149977940G>C | CA361704669 | SLC26A2 | n.520G>C c.288G>C (p.Leu96Phe) | |
| 5 | g.149977940G= | CA1590737341 | SLC26A2 | n.520G= c.288G= (p.Leu96=) | |
| 5 | g.149977940G>T | CA3505228 | SLC26A2 | n.520G>T c.288G>T (p.Leu96Phe) | dbSNP ExAC gnomAD v2 |
| 5 | g.149977941C>A | CA361704670 | SLC26A2 | n.521C>A c.289C>A (p.Gln97Lys) | gnomAD v4 |
| 5 | g.149977941C>G | CA361704671 | SLC26A2 | n.521C>G c.289C>G (p.Gln97Glu) | |
| 5 | g.149977941C>T | CA361704672 | SLC26A2 | n.521C>T c.289C>T (p.Gln97Ter) | |
| 5 | g.149977942A= | CA1590737342 | SLC26A2 | n.522A= c.290A= (p.Gln97=) | |
| 5 | g.149977942A>C | CA361704673 | SLC26A2 | n.522A>C c.290A>C (p.Gln97Pro) | |
| 5 | g.149977942A>G | CA361704674 | SLC26A2 | n.522A>G c.290A>G (p.Gln97Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977942A>T | CA361704675 | SLC26A2 | n.522A>T c.290A>T (p.Gln97Leu) | |
| 5 | g.149977943G>A | CA447401860 | SLC26A2 | n.523G>A c.291G>A (p.Gln97=) | ClinVar |
| 5 | g.149977943G>C | CA361704676 | SLC26A2 | n.523G>C c.291G>C (p.Gln97His) | |
| 5 | g.149977943G>T | CA361704677 | SLC26A2 | n.523G>T c.291G>T (p.Gln97His) | |
| 5 | g.149977944T>A | CA361704678 | SLC26A2 | n.524T>A c.292T>A (p.Trp98Arg) | |
| 5 | g.149977944T>C | CA3505229 | SLC26A2 | n.524T>C c.292T>C (p.Trp98Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977944T>G | CA361704679 | SLC26A2 | n.524T>G c.292T>G (p.Trp98Gly) | |
| 5 | g.149977944T= | CA1590737343 | SLC26A2 | n.524T= c.292T= (p.Trp98=) | |
| 5 | g.149977945G>A | CA361704680 | SLC26A2 | n.525G>A c.293G>A (p.Trp98Ter) | |
| 5 | g.149977945G>C | CA361704681 | SLC26A2 | n.525G>C c.293G>C (p.Trp98Ser) | |
| 5 | g.149977945G>T | CA361704682 | SLC26A2 | n.525G>T c.293G>T (p.Trp98Leu) | |
| 5 | g.149977946G>A | CA3505230 | SLC26A2 | n.526G>A c.294G>A (p.Trp98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977946G>C | CA361704683 | SLC26A2 | n.526G>C c.294G>C (p.Trp98Cys) | |
| 5 | g.149977946G= | CA1590737344 | SLC26A2 | n.526G= c.294G= (p.Trp98=) | |
| 5 | g.149977946G>T | CA361704684 | SLC26A2 | n.526G>T c.294G>T (p.Trp98Cys) | |
| 5 | g.149977947C>A | CA361704687 | SLC26A2 | n.527C>A c.295C>A (p.Leu99Ile) | |
| 5 | g.149977947C>G | CA361704686 | SLC26A2 | n.527C>G c.295C>G (p.Leu99Val) | |
| 5 | g.149977947C>T | CA361704685 | SLC26A2 | n.527C>T c.295C>T (p.Leu99Phe) | |
| 5 | g.149977948T>A | CA361704688 | SLC26A2 | n.528T>A c.296T>A (p.Leu99His) | |
| 5 | g.149977948T>C | CA361704689 | SLC26A2 | n.528T>C c.296T>C (p.Leu99Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977948T>G | CA361704690 | SLC26A2 | n.528T>G c.296T>G (p.Leu99Arg) | |
| 5 | g.149977948T= | CA1590737345 | SLC26A2 | n.528T= c.296T= (p.Leu99=) | |
| 5 | g.149977948_149977949delinsTC | CA1590737346 | SLC26A2 | n.528_529delinsTC c.296_297delinsTC (p.Leu99=) | |
| 5 | g.149977949C>A | CA447401861 | SLC26A2 | n.529C>A c.297C>A (p.Leu99=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977949C>G | CA447401863 | SLC26A2 | n.529C>G c.297C>G (p.Leu99=) | gnomAD v4 |
| 5 | g.149977949C>T | CA447401862 | SLC26A2 | n.529C>T c.297C>T (p.Leu99=) | gnomAD v4 |
| 5 | g.149977951del | CA915942680 | SLC26A2 | n.531del c.299del (p.Pro100GlnfsTer5) | ClinVar dbSNP |
| 5 | g.149977950C>A | CA361704691 | SLC26A2 | n.530C>A c.298C>A (p.Pro100Thr) | |
| 5 | g.149977950C= | CA1590737347 | SLC26A2 | n.530C= c.298C= (p.Pro100=) | |
| 5 | g.149977950C>G | CA361704692 | SLC26A2 | n.530C>G c.298C>G (p.Pro100Ala) | gnomAD v4 |
| 5 | g.149977950C>T | CA3505231 | SLC26A2 | n.530C>T c.298C>T (p.Pro100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977951C>A | CA361704693 | SLC26A2 | n.531C>A c.299C>A (p.Pro100Gln) | |
| 5 | g.149977951C= | CA1590737348 | SLC26A2 | n.531C= c.299C= (p.Pro100=) | |
| 5 | g.149977951C>G | CA3505232 | SLC26A2 | n.531C>G c.299C>G (p.Pro100Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977951C>T | CA361704694 | SLC26A2 | n.531C>T c.299C>T (p.Pro100Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149977952A>C | CA447401864 | SLC26A2 | n.532A>C c.300A>C (p.Pro100=) | |
| 5 | g.149977952A>G | CA447401865 | SLC26A2 | n.532A>G c.300A>G (p.Pro100=) | gnomAD v4 |
| 5 | g.149977952A>T | CA447401866 | SLC26A2 | n.532A>T c.300A>T (p.Pro100=) | |
| 5 | g.149977953A>C | CA361704695 | SLC26A2 | n.533A>C c.301A>C (p.Lys101Gln) | |
| 5 | g.149977953A>G | CA361704696 | SLC26A2 | n.533A>G c.301A>G (p.Lys101Glu) | |
| 5 | g.149977953A>T | CA361704697 | SLC26A2 | n.533A>T c.301A>T (p.Lys101Ter) | |
| 5 | g.149977954A>C | CA361704698 | SLC26A2 | n.534A>C c.302A>C (p.Lys101Thr) | |
| 5 | g.149977954A>G | CA361704699 | SLC26A2 | n.534A>G c.302A>G (p.Lys101Arg) | |
| 5 | g.149977954A>T | CA361704700 | SLC26A2 | n.534A>T c.302A>T (p.Lys101Ile) | |
| 5 | g.149977955A>C | CA361704701 | SLC26A2 | n.535A>C c.303A>C (p.Lys101Asn) | |
| 5 | g.149977955A>G | CA447401867 | SLC26A2 | n.535A>G c.303A>G (p.Lys101=) | |
| 5 | g.149977955A>T | CA361704702 | SLC26A2 | n.535A>T c.303A>T (p.Lys101Asn) | |
| 5 | g.149977956T>A | CA361704703 | SLC26A2 | n.536T>A c.304T>A (p.Tyr102Asn) | |
| 5 | g.149977956T>C | CA361704704 | SLC26A2 | n.536T>C c.304T>C (p.Tyr102His) | gnomAD v4 |
| 5 | g.149977956T>G | CA361704705 | SLC26A2 | n.536T>G c.304T>G (p.Tyr102Asp) | |
| 5 | g.149977957A>C | CA361704706 | SLC26A2 | n.537A>C c.305A>C (p.Tyr102Ser) | |
| 5 | g.149977957A>G | CA361704708 | SLC26A2 | n.537A>G c.305A>G (p.Tyr102Cys) | |
| 5 | g.149977957A>T | CA361704707 | SLC26A2 | n.537A>T c.305A>T (p.Tyr102Phe) | |
| 5 | g.149977958C>A | CA361704709 | SLC26A2 | n.538C>A c.306C>A (p.Tyr102Ter) | |
| 5 | g.149977958C= | CA1590737349 | SLC26A2 | n.538C= c.306C= (p.Tyr102=) | |
| 5 | g.149977958C>G | CA361704710 | SLC26A2 | n.538C>G c.306C>G (p.Tyr102Ter) | ClinVar dbSNP |
| 5 | g.149977958C>T | CA3505233 | SLC26A2 | n.538C>T c.306C>T (p.Tyr102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977959G>A | CA361704711 | SLC26A2 | n.539G>A c.307G>A (p.Asp103Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977959G>C | CA361704712 | SLC26A2 | n.539G>C c.307G>C (p.Asp103His) | |
| 5 | g.149977959G= | CA1590737350 | SLC26A2 | n.539G= c.307G= (p.Asp103=) | |
| 5 | g.149977959G>T | CA361704713 | SLC26A2 | n.539G>T c.307G>T (p.Asp103Tyr) | gnomAD v4 |
| 5 | g.149977960A>C | CA361704714 | SLC26A2 | n.540A>C c.308A>C (p.Asp103Ala) | |
| 5 | g.149977960A>G | CA361704715 | SLC26A2 | n.540A>G c.308A>G (p.Asp103Gly) | |
| 5 | g.149977960A>T | CA361704716 | SLC26A2 | n.540A>T c.308A>T (p.Asp103Val) | gnomAD v4 |
| 5 | g.149977961_149977979del | CA2740094131 | SLC26A2 | n.541_559del c.309_327del (p.Asp103GlufsTer4) | ClinVar |
| 5 | g.149977961C>A | CA361704717 | SLC26A2 | n.541C>A c.309C>A (p.Asp103Glu) | |
| 5 | g.149977961C>G | CA361704718 | SLC26A2 | n.541C>G c.309C>G (p.Asp103Glu) | |
| 5 | g.149977961C>T | CA447401868 | SLC26A2 | n.541C>T c.309C>T (p.Asp103=) | COSMIC |
| 5 | g.149977962C>A | CA361704720 | SLC26A2 | n.542C>A c.310C>A (p.Leu104Ile) | |
| 5 | g.149977962C= | CA1590737351 | SLC26A2 | n.542C= c.310C= (p.Leu104=) | |
| 5 | g.149977962C>G | CA361704719 | SLC26A2 | n.542C>G c.310C>G (p.Leu104Val) | |
| 5 | g.149977962C>T | CA3505234 | SLC26A2 | n.542C>T c.310C>T (p.Leu104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977963T>A | CA361704721 | SLC26A2 | n.543T>A c.311T>A (p.Leu104Gln) | |
| 5 | g.149977963T>C | CA361704722 | SLC26A2 | n.543T>C c.311T>C (p.Leu104Pro) | |
| 5 | g.149977963T>G | CA361704723 | SLC26A2 | n.543T>G c.311T>G (p.Leu104Arg) | |
| 5 | g.149977963_149977964delinsTA | CA1590737352 | SLC26A2 | n.543_544delinsTA c.311_312delinsTA (p.Leu104=) | |
| 5 | g.149977964A>C | CA447401870 | SLC26A2 | n.544A>C c.312A>C (p.Leu104=) | |
| 5 | g.149977964A>G | CA447401872 | SLC26A2 | n.544A>G c.312A>G (p.Leu104=) | |
| 5 | g.149977964A>T | CA447401873 | SLC26A2 | n.544A>T c.312A>T (p.Leu104=) | |
| 5 | g.149977966del | CA3505235 | SLC26A2 | n.546del c.314del (p.Lys105ArgfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977965A>C | CA361704724 | SLC26A2 | n.545A>C c.313A>C (p.Lys105Gln) | |
| 5 | g.149977965A>G | CA361704725 | SLC26A2 | n.545A>G c.313A>G (p.Lys105Glu) | |
| 5 | g.149977965A>T | CA361704726 | SLC26A2 | n.545A>T c.313A>T (p.Lys105Ter) | |
| 5 | g.149977966A>C | CA361704727 | SLC26A2 | n.546A>C c.314A>C (p.Lys105Thr) | |
| 5 | g.149977966A>G | CA361704728 | SLC26A2 | n.546A>G c.314A>G (p.Lys105Arg) | |
| 5 | g.149977966A>T | CA361704729 | SLC26A2 | n.546A>T c.314A>T (p.Lys105Met) | |
| 5 | g.149977967G>A | CA447401876 | SLC26A2 | n.547G>A c.315G>A (p.Lys105=) | ClinVar dbSNP COSMIC |
| 5 | g.149977967G>C | CA361704730 | SLC26A2 | n.547G>C c.315G>C (p.Lys105Asn) | |
| 5 | g.149977967G= | CA1590737353 | SLC26A2 | n.547G= c.315G= (p.Lys105=) | |
| 5 | g.149977967G>T | CA361704731 | SLC26A2 | n.547G>T c.315G>T (p.Lys105Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977968A= | CA1590737354 | SLC26A2 | n.548A= c.316A= (p.Lys106=) | |
| 5 | g.149977968A>C | CA361704733 | SLC26A2 | n.548A>C c.316A>C (p.Lys106Gln) | |
| 5 | g.149977968A>G | CA361704734 | SLC26A2 | n.548A>G c.316A>G (p.Lys106Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977968A>T | CA361704732 | SLC26A2 | n.548A>T c.316A>T (p.Lys106Ter) | |
| 5 | g.149977972del | CA2675943466 | SLC26A2 | n.552del c.320del (p.Asn107ThrfsTer3) | gnomAD v4 |
| 5 | g.149977969A>C | CA361704735 | SLC26A2 | n.549A>C c.317A>C (p.Lys106Thr) | |
| 5 | g.149977969A>G | CA361704736 | SLC26A2 | n.549A>G c.317A>G (p.Lys106Arg) | |
| 5 | g.149977969A>T | CA361704737 | SLC26A2 | n.549A>T c.317A>T (p.Lys106Ile) | |
| 5 | g.149977970A>C | CA361704738 | SLC26A2 | n.550A>C c.318A>C (p.Lys106Asn) | |
| 5 | g.149977970A>G | CA447401880 | SLC26A2 | n.550A>G c.318A>G (p.Lys106=) | |
| 5 | g.149977970A>T | CA361704739 | SLC26A2 | n.550A>T c.318A>T (p.Lys106Asn) | |
| 5 | g.149977971A>C | CA361704740 | SLC26A2 | n.551A>C c.319A>C (p.Asn107His) | |
| 5 | g.149977971A>G | CA361704741 | SLC26A2 | n.551A>G c.319A>G (p.Asn107Asp) | |
| 5 | g.149977971A>T | CA361704742 | SLC26A2 | n.551A>T c.319A>T (p.Asn107Tyr) | |
| 5 | g.149977972A>C | CA361704743 | SLC26A2 | n.552A>C c.320A>C (p.Asn107Thr) | |
| 5 | g.149977972A>G | CA361704744 | SLC26A2 | n.552A>G c.320A>G (p.Asn107Ser) | |
| 5 | g.149977972A>T | CA361704745 | SLC26A2 | n.552A>T c.320A>T (p.Asn107Ile) | |
| 5 | g.149977973C>A | CA361704746 | SLC26A2 | n.553C>A c.321C>A (p.Asn107Lys) | |
| 5 | g.149977973C= | CA1590737355 | SLC26A2 | n.553C= c.321C= (p.Asn107=) | |
| 5 | g.149977973C>G | CA361704747 | SLC26A2 | n.553C>G c.321C>G (p.Asn107Lys) | |
| 5 | g.149977973C>T | CA447401884 | SLC26A2 | n.553C>T c.321C>T (p.Asn107=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977974A= | CA1590737357 | SLC26A2 | n.554A= c.322A= (p.Ile108=) | |
| 5 | g.149977974A>C | CA361704750 | SLC26A2 | n.554A>C c.322A>C (p.Ile108Leu) | |
| 5 | g.149977974A>G | CA361704749 | SLC26A2 | n.554A>G c.322A>G (p.Ile108Val) | |
| 5 | g.149977974A>T | CA361704748 | SLC26A2 | n.554A>T c.322A>T (p.Ile108Phe) | dbSNP |
| 5 | g.149977974_149977976del | CA913108440 | SLC26A2 | n.554_556del c.322_324del (p.Ile108del) | |
| 5 | g.149977974_149977976delinsATT | CA1590737356 | SLC26A2 | n.554_556delinsATT c.322_324delinsATT (p.Ile108=) | |
| 5 | g.149977975T>A | CA361704751 | SLC26A2 | n.555T>A c.323T>A (p.Ile108Asn) | |
| 5 | g.149977975T>C | CA361704752 | SLC26A2 | n.555T>C c.323T>C (p.Ile108Thr) | |
| 5 | g.149977975T>G | CA361704753 | SLC26A2 | n.555T>G c.323T>G (p.Ile108Ser) | |
| 5 | g.149977978dup | CA913108441 | SLC26A2 | n.558dup c.326dup (p.Leu109PhefsTer?) | |
| 5 | g.149977977_149977978del | CA658822211 | SLC26A2 | n.557_558del c.325_326del (p.Leu109ArgfsTer?) | ClinVar dbSNP |
| 5 | g.149977976T>A | CA447401885 | SLC26A2 | n.556T>A c.324T>A (p.Ile108=) | |
| 5 | g.149977976T>C | CA447401886 | SLC26A2 | n.556T>C c.324T>C (p.Ile108=) | |
| 5 | g.149977976T>G | CA361704754 | SLC26A2 | n.556T>G c.324T>G (p.Ile108Met) | |
| 5 | g.149977977T>A | CA361704755 | SLC26A2 | n.557T>A c.325T>A (p.Leu109Ile) | |
| 5 | g.149977977T>C | CA447401887 | SLC26A2 | n.557T>C c.325T>C (p.Leu109=) | |
| 5 | g.149977977T>G | CA361704756 | SLC26A2 | n.557T>G c.325T>G (p.Leu109Val) | |
| 5 | g.149977977T= | CA1590737358 | SLC26A2 | n.557T= c.325T= (p.Leu109=) | |
| 5 | g.149977978T>A | CA361704757 | SLC26A2 | n.558T>A c.326T>A (p.Leu109Ter) | |
| 5 | g.149977978T>C | CA361704758 | SLC26A2 | n.558T>C c.326T>C (p.Leu109Ser) | |
| 5 | g.149977978T>G | CA361704759 | SLC26A2 | n.558T>G c.326T>G (p.Leu109Ter) | |
| 5 | g.149977978_149977983dup | CA658822212 | SLC26A2 | n.558_563dup c.326_331dup (p.Gly110_Asp111insValGly) | ClinVar dbSNP |
| 5 | g.149977979A= | CA1590737359 | SLC26A2 | n.559A= c.327A= (p.Leu109=) | |
| 5 | g.149977979A>C | CA361704760 | SLC26A2 | n.559A>C c.327A>C (p.Leu109Phe) | |
| 5 | g.149977979A>G | CA447401891 | SLC26A2 | n.559A>G c.327A>G (p.Leu109=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977979A>T | CA361704761 | SLC26A2 | n.559A>T c.327A>T (p.Leu109Phe) | |
| 5 | g.149977980G>A | CA361704762 | SLC26A2 | n.560G>A c.328G>A (p.Gly110Arg) c.1G>A (p.Gly1Arg) | |
| 5 | g.149977980G>C | CA361704763 | SLC26A2 | n.560G>C c.328G>C (p.Gly110Arg) c.1G>C (p.Gly1Arg) | gnomAD v4 |
| 5 | g.149977980G>T | CA361704764 | SLC26A2 | n.560G>T c.328G>T (p.Gly110Trp) c.1G>T (p.Gly1Trp) | |
| 5 | g.149977983del | CA2675943467 | SLC26A2 | n.563del c.331del (p.Asp111MetfsTer2) c.4del (p.Asp2MetfsTer2) | gnomAD v4 |
| 5 | g.149977981G>A | CA361704767 | SLC26A2 | n.561G>A c.329G>A (p.Gly110Glu) c.2G>A (p.Gly1Glu) | |
| 5 | g.149977981G>C | CA361704766 | SLC26A2 | n.561G>C c.329G>C (p.Gly110Ala) c.2G>C (p.Gly1Ala) | |
| 5 | g.149977981G>T | CA361704765 | SLC26A2 | n.561G>T c.329G>T (p.Gly110Val) c.2G>T (p.Gly1Val) | |
| 5 | g.149977982G>A | CA447401894 | SLC26A2 | n.562G>A c.330G>A (p.Gly110=) c.3G>A (p.Gly1=) | |
| 5 | g.149977982G>C | CA447401895 | SLC26A2 | n.562G>C c.330G>C (p.Gly110=) c.3G>C (p.Gly1=) | |
| 5 | g.149977982G>T | CA447401897 | SLC26A2 | n.562G>T c.330G>T (p.Gly110=) c.3G>T (p.Gly1=) | |
| 5 | g.149977983G>A | CA361704768 | SLC26A2 | n.563G>A c.331G>A (p.Asp111Asn) c.4G>A (p.Asp2Asn) | gnomAD v4 |
| 5 | g.149977983G>C | CA361704769 | SLC26A2 | n.563G>C c.331G>C (p.Asp111His) c.4G>C (p.Asp2His) | |
| 5 | g.149977983G= | CA1590737360 | SLC26A2 | n.563G= c.331G= (p.Asp111=) c.4G= (p.Asp2=) | |
| 5 | g.149977983G>T | CA263260 | SLC26A2 | n.563G>T c.331G>T (p.Asp111Tyr) c.4G>T (p.Asp2Tyr) | ClinVar dbSNP |
| 5 | g.149977984A>C | CA361704770 | SLC26A2 | n.564A>C c.332A>C (p.Asp111Ala) c.5A>C (p.Asp2Ala) | |
| 5 | g.149977984A>G | CA361704771 | SLC26A2 | n.564A>G c.332A>G (p.Asp111Gly) c.5A>G (p.Asp2Gly) | |
| 5 | g.149977984A>T | CA361704772 | SLC26A2 | n.564A>T c.332A>T (p.Asp111Val) c.5A>T (p.Asp2Val) | |
| 5 | g.149977985T>A | CA361704774 | SLC26A2 | n.565T>A c.333T>A (p.Asp111Glu) c.6T>A (p.Asp2Glu) | |
| 5 | g.149977985T>C | CA447401906 | SLC26A2 | n.565T>C c.333T>C (p.Asp111=) c.6T>C (p.Asp2=) | |
| 5 | g.149977985T>G | CA361704773 | SLC26A2 | n.565T>G c.333T>G (p.Asp111Glu) c.6T>G (p.Asp2Glu) | |
| 5 | g.149977986G>A | CA361704775 | SLC26A2 | n.566G>A c.334G>A (p.Val112Met) c.7G>A (p.Val3Met) | |
| 5 | g.149977986G>C | CA361704776 | SLC26A2 | n.566G>C c.334G>C (p.Val112Leu) c.7G>C (p.Val3Leu) | |
| 5 | g.149977986G>T | CA361704777 | SLC26A2 | n.566G>T c.334G>T (p.Val112Leu) c.7G>T (p.Val3Leu) | |
| 5 | g.149977987T>A | CA361704778 | SLC26A2 | n.567T>A c.335T>A (p.Val112Glu) c.8T>A (p.Val3Glu) | |
| 5 | g.149977987T>C | CA361704779 | SLC26A2 | n.567T>C c.335T>C (p.Val112Ala) c.8T>C (p.Val3Ala) | |
| 5 | g.149977987T>G | CA361704780 | SLC26A2 | n.567T>G c.335T>G (p.Val112Gly) c.8T>G (p.Val3Gly) | |
| 5 | g.149977988G>A | CA447401909 | SLC26A2 | n.568G>A c.336G>A (p.Val112=) c.9G>A (p.Val3=) | |
| 5 | g.149977988G>C | CA447401911 | SLC26A2 | n.568G>C c.336G>C (p.Val112=) c.9G>C (p.Val3=) | |
| 5 | g.149977988G>T | CA447401913 | SLC26A2 | n.568G>T c.336G>T (p.Val112=) c.9G>T (p.Val3=) | |
| 5 | g.149977989A= | CA1590737361 | SLC26A2 | n.569A= c.337A= (p.Met113=) c.10A= (p.Met4=) | |
| 5 | g.149977989A>C | CA361704783 | SLC26A2 | n.569A>C c.337A>C (p.Met113Leu) c.10A>C (p.Met4Leu) | |
| 5 | g.149977989A>G | CA361704781 | SLC26A2 | n.569A>G c.337A>G (p.Met113Val) c.10A>G (p.Met4Val) | dbSNP gnomAD v4 |
| 5 | g.149977989A>T | CA361704782 | SLC26A2 | n.569A>T c.337A>T (p.Met113Leu) c.10A>T (p.Met4Leu) | |
| 5 | g.149977990T>A | CA361704784 | SLC26A2 | n.570T>A c.338T>A (p.Met113Lys) c.11T>A (p.Met4Lys) | |
| 5 | g.149977990T>C | CA361704785 | SLC26A2 | n.570T>C c.338T>C (p.Met113Thr) c.11T>C (p.Met4Thr) | |
| 5 | g.149977990T>G | CA361704786 | SLC26A2 | n.570T>G c.338T>G (p.Met113Arg) c.11T>G (p.Met4Arg) | |
| 5 | g.149977991G>A | CA3505236 | SLC26A2 | n.571G>A c.339G>A (p.Met113Ile) c.12G>A (p.Met4Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977991G>C | CA361704787 | SLC26A2 | n.571G>C c.339G>C (p.Met113Ile) c.12G>C (p.Met4Ile) | |
| 5 | g.149977991G= | CA1590737362 | SLC26A2 | n.571G= c.339G= (p.Met113=) c.12G= (p.Met4=) | |
| 5 | g.149977991G>T | CA361704788 | SLC26A2 | n.571G>T c.339G>T (p.Met113Ile) c.12G>T (p.Met4Ile) | |
| 5 | g.149977992T>A | CA361704789 | SLC26A2 | n.572T>A c.340T>A (p.Ser114Thr) c.13T>A (p.Ser5Thr) | |
| 5 | g.149977992T>C | CA361704790 | SLC26A2 | n.572T>C c.340T>C (p.Ser114Pro) c.13T>C (p.Ser5Pro) | COSMIC |
| 5 | g.149977992T>G | CA361704791 | SLC26A2 | n.572T>G c.340T>G (p.Ser114Ala) c.13T>G (p.Ser5Ala) | |
| 5 | g.149977993C>A | CA361704792 | SLC26A2 | n.573C>A c.341C>A (p.Ser114Ter) c.14C>A (p.Ser5Ter) | |
| 5 | g.149977993C>G | CA361704793 | SLC26A2 | n.573C>G c.341C>G (p.Ser114Ter) c.14C>G (p.Ser5Ter) | gnomAD v4 |
| 5 | g.149977993C>T | CA361704794 | SLC26A2 | n.573C>T c.341C>T (p.Ser114Leu) c.14C>T (p.Ser5Leu) | |
| 5 | g.149977994A>C | CA447401918 | SLC26A2 | n.574A>C c.342A>C (p.Ser114=) c.15A>C (p.Ser5=) | |
| 5 | g.149977994A>G | CA447401919 | SLC26A2 | n.574A>G c.342A>G (p.Ser114=) c.15A>G (p.Ser5=) | |
| 5 | g.149977994A>T | CA447401920 | SLC26A2 | n.574A>T c.342A>T (p.Ser114=) c.15A>T (p.Ser5=) | |
| 5 | g.149977995G>A | CA361704797 | SLC26A2 | n.575G>A c.343G>A (p.Gly115Ser) c.16G>A (p.Gly6Ser) | |
| 5 | g.149977995G>C | CA361704795 | SLC26A2 | n.575G>C c.343G>C (p.Gly115Arg) c.16G>C (p.Gly6Arg) | |
| 5 | g.149977995G>T | CA361704796 | SLC26A2 | n.575G>T c.343G>T (p.Gly115Cys) c.16G>T (p.Gly6Cys) | |
| 5 | g.149977996G>A | CA361704798 | SLC26A2 | n.576G>A c.344G>A (p.Gly115Asp) c.17G>A (p.Gly6Asp) | COSMIC |
| 5 | g.149977996G>C | CA361704799 | SLC26A2 | n.576G>C c.344G>C (p.Gly115Ala) c.17G>C (p.Gly6Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977996G= | CA1590737363 | SLC26A2 | n.576G= c.344G= (p.Gly115=) c.17G= (p.Gly6=) | |
| 5 | g.149977996G>T | CA3505237 | SLC26A2 | n.576G>T c.344G>T (p.Gly115Val) c.17G>T (p.Gly6Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977997C>A | CA447401924 | SLC26A2 | n.577C>A c.345C>A (p.Gly115=) c.18C>A (p.Gly6=) | gnomAD v4 |
| 5 | g.149977997C>G | CA447401926 | SLC26A2 | n.577C>G c.345C>G (p.Gly115=) c.18C>G (p.Gly6=) | |
| 5 | g.149977997C>T | CA447401927 | SLC26A2 | n.577C>T c.345C>T (p.Gly115=) c.18C>T (p.Gly6=) | gnomAD v4 |
| 5 | g.149977998T>A | CA361704800 | SLC26A2 | n.578T>A c.346T>A (p.Leu116Met) c.19T>A (p.Leu7Met) | |
| 5 | g.149977998T>C | CA447401928 | SLC26A2 | n.578T>C c.346T>C (p.Leu116=) c.19T>C (p.Leu7=) | |
| 5 | g.149977998T>G | CA361704801 | SLC26A2 | n.578T>G c.346T>G (p.Leu116Val) c.19T>G (p.Leu7Val) | |
| 5 | g.149977999T>A | CA361704802 | SLC26A2 | n.579T>A c.347T>A (p.Leu116Ter) c.20T>A (p.Leu7Ter) | |
| 5 | g.149977999T>C | CA361704803 | SLC26A2 | n.579T>C c.347T>C (p.Leu116Ser) c.20T>C (p.Leu7Ser) | |
| 5 | g.149977999T>G | CA361704804 | SLC26A2 | n.579T>G c.347T>G (p.Leu116Trp) c.20T>G (p.Leu7Trp) | |
| 5 | g.149978000G>A | CA447401929 | SLC26A2 | n.580G>A c.348G>A (p.Leu116=) c.21G>A (p.Leu7=) | |
| 5 | g.149978000G>C | CA361704805 | SLC26A2 | n.580G>C c.348G>C (p.Leu116Phe) c.21G>C (p.Leu7Phe) | |
| 5 | g.149978000G>T | CA361704806 | SLC26A2 | n.580G>T c.348G>T (p.Leu116Phe) c.21G>T (p.Leu7Phe) | COSMIC |
| 5 | g.149978001A>C | CA361704807 | SLC26A2 | n.581A>C c.349A>C (p.Ile117Leu) c.22A>C (p.Ile8Leu) | |
| 5 | g.149978001A>G | CA361704808 | SLC26A2 | n.581A>G c.349A>G (p.Ile117Val) c.22A>G (p.Ile8Val) | gnomAD v4 |
| 5 | g.149978001A>T | CA361704809 | SLC26A2 | n.581A>T c.349A>T (p.Ile117Phe) c.22A>T (p.Ile8Phe) | |
| 5 | g.149978002T>A | CA361704810 | SLC26A2 | n.582T>A c.350T>A (p.Ile117Asn) c.23T>A (p.Ile8Asn) | |
| 5 | g.149978002T>C | CA361704811 | SLC26A2 | n.582T>C c.350T>C (p.Ile117Thr) c.23T>C (p.Ile8Thr) | |
| 5 | g.149978002T>G | CA361704812 | SLC26A2 | n.582T>G c.350T>G (p.Ile117Ser) c.23T>G (p.Ile8Ser) | |
| 5 | g.149978003T>A | CA447401934 | SLC26A2 | n.583T>A c.351T>A (p.Ile117=) c.24T>A (p.Ile8=) | |
| 5 | g.149978003T>C | CA447401935 | SLC26A2 | n.583T>C c.351T>C (p.Ile117=) c.24T>C (p.Ile8=) | |
| 5 | g.149978003T>G | CA361704813 | SLC26A2 | n.583T>G c.351T>G (p.Ile117Met) c.24T>G (p.Ile8Met) | |
| 5 | g.149978004G>A | CA361704814 | SLC26A2 | n.584G>A c.352G>A (p.Val118Met) c.25G>A (p.Val9Met) | |
| 5 | g.149978004G>C | CA361704815 | SLC26A2 | n.584G>C c.352G>C (p.Val118Leu) c.25G>C (p.Val9Leu) | gnomAD v4 |
| 5 | g.149978004G>T | CA361704816 | SLC26A2 | n.584G>T c.352G>T (p.Val118Leu) c.25G>T (p.Val9Leu) | |
| 5 | g.149978005T>A | CA361704817 | SLC26A2 | n.585T>A c.353T>A (p.Val118Glu) c.26T>A (p.Val9Glu) | |
| 5 | g.149978005T>C | CA361704818 | SLC26A2 | n.585T>C c.353T>C (p.Val118Ala) c.26T>C (p.Val9Ala) | gnomAD v4 |
| 5 | g.149978005T>G | CA361704819 | SLC26A2 | n.585T>G c.353T>G (p.Val118Gly) c.26T>G (p.Val9Gly) | |
| 5 | g.149978006G>A | CA447401936 | SLC26A2 | n.586G>A c.354G>A (p.Val118=) c.27G>A (p.Val9=) | |
| 5 | g.149978006G>C | CA447401940 | SLC26A2 | n.586G>C c.354G>C (p.Val118=) c.27G>C (p.Val9=) | |
| 5 | g.149978006G>T | CA447401938 | SLC26A2 | n.586G>T c.354G>T (p.Val118=) c.27G>T (p.Val9=) | ClinVar |
| 5 | g.149978007G>A | CA361704820 | SLC26A2 | n.587G>A c.355G>A (p.Gly119Ser) c.28G>A (p.Gly10Ser) | dbSNP gnomAD v4 |
| 5 | g.149978007G>C | CA361704821 | SLC26A2 | n.587G>C c.355G>C (p.Gly119Arg) c.28G>C (p.Gly10Arg) | |
| 5 | g.149978007G>T | CA361704822 | SLC26A2 | n.587G>T c.355G>T (p.Gly119Cys) c.28G>T (p.Gly10Cys) | |
| 5 | g.149978008G>A | CA361704823 | SLC26A2 | n.588G>A c.356G>A (p.Gly119Asp) c.29G>A (p.Gly10Asp) | gnomAD v4 |
| 5 | g.149978008G>C | CA361704824 | SLC26A2 | n.588G>C c.356G>C (p.Gly119Ala) c.29G>C (p.Gly10Ala) | |
| 5 | g.149978008G>T | CA361704825 | SLC26A2 | n.588G>T c.356G>T (p.Gly119Val) c.29G>T (p.Gly10Val) | gnomAD v4 |
| 5 | g.149978009C>A | CA447401946 | SLC26A2 | n.589C>A c.357C>A (p.Gly119=) c.30C>A (p.Gly10=) | |
| 5 | g.149978009C>G | CA447401944 | SLC26A2 | n.589C>G c.357C>G (p.Gly119=) c.30C>G (p.Gly10=) | |
| 5 | g.149978009C>T | CA447401943 | SLC26A2 | n.589C>T c.357C>T (p.Gly119=) c.30C>T (p.Gly10=) | |
| 5 | g.149978010A= | CA1590737364 | SLC26A2 | n.590A= c.358A= (p.Ile120=) c.31A= (p.Ile11=) | |
| 5 | g.149978010A>C | CA361704828 | SLC26A2 | n.590A>C c.358A>C (p.Ile120Leu) c.31A>C (p.Ile11Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149978010A>G | CA361704827 | SLC26A2 | n.590A>G c.358A>G (p.Ile120Val) c.31A>G (p.Ile11Val) | gnomAD v4 |
| 5 | g.149978010A>T | CA361704826 | SLC26A2 | n.590A>T c.358A>T (p.Ile120Leu) c.31A>T (p.Ile11Leu) | |
| 5 | g.149978011T>A | CA361704831 | SLC26A2 | n.591T>A c.359T>A (p.Ile120Lys) c.32T>A (p.Ile11Lys) | |
| 5 | g.149978011T>C | CA361704829 | SLC26A2 | n.591T>C c.359T>C (p.Ile120Thr) c.32T>C (p.Ile11Thr) | |
| 5 | g.149978011T>G | CA361704830 | SLC26A2 | n.591T>G c.359T>G (p.Ile120Arg) c.32T>G (p.Ile11Arg) | |
| 5 | g.149978012A>C | CA447401952 | SLC26A2 | n.592A>C c.360A>C (p.Ile120=) c.33A>C (p.Ile11=) | |
| 5 | g.149978012A>G | CA361704832 | SLC26A2 | n.592A>G c.360A>G (p.Ile120Met) c.33A>G (p.Ile11Met) | |
| 5 | g.149978012A>T | CA447401953 | SLC26A2 | n.592A>T c.360A>T (p.Ile120=) c.33A>T (p.Ile11=) | |
| 5 | g.149978013T>A | CA361704833 | SLC26A2 | n.593T>A c.361T>A (p.Leu121Ile) c.34T>A (p.Leu12Ile) | |
| 5 | g.149978013T>C | CA447401954 | SLC26A2 | n.593T>C c.361T>C (p.Leu121=) c.34T>C (p.Leu12=) | |
| 5 | g.149978013T>G | CA361704834 | SLC26A2 | n.593T>G c.361T>G (p.Leu121Val) c.34T>G (p.Leu12Val) | |
| 5 | g.149978014T>A | CA361704835 | SLC26A2 | n.594T>A c.362T>A (p.Leu121Ter) c.35T>A (p.Leu12Ter) | |
| 5 | g.149978014T>C | CA361704836 | SLC26A2 | n.594T>C c.362T>C (p.Leu121Ser) c.35T>C (p.Leu12Ser) | |
| 5 | g.149978014T>G | CA361704837 | SLC26A2 | n.594T>G c.362T>G (p.Leu121Ter) c.35T>G (p.Leu12Ter) | |
| 5 | g.149978015A>C | CA361704838 | SLC26A2 | n.595A>C c.363A>C (p.Leu121Phe) c.36A>C (p.Leu12Phe) | |
| 5 | g.149978015A>G | CA447401958 | SLC26A2 | n.595A>G c.363A>G (p.Leu121=) c.36A>G (p.Leu12=) | |
| 5 | g.149978015A>T | CA361704839 | SLC26A2 | n.595A>T c.363A>T (p.Leu121Phe) c.36A>T (p.Leu12Phe) | dbSNP |
| 5 | g.149978016T>A | CA361704840 | SLC26A2 | n.596T>A c.364T>A (p.Leu122Met) c.37T>A (p.Leu13Met) | |
| 5 | g.149978016T>C | CA447401960 | SLC26A2 | n.596T>C c.364T>C (p.Leu122=) c.37T>C (p.Leu13=) | ClinVar dbSNP |
| 5 | g.149978016T>G | CA361704841 | SLC26A2 | n.596T>G c.364T>G (p.Leu122Val) c.37T>G (p.Leu13Val) | |
| 5 | g.149978017T>A | CA361704843 | SLC26A2 | n.597T>A c.365T>A (p.Leu122Ter) c.38T>A (p.Leu13Ter) | |
| 5 | g.149978017T>C | CA361704844 | SLC26A2 | n.597T>C c.365T>C (p.Leu122Ser) c.38T>C (p.Leu13Ser) | |
| 5 | g.149978017T>G | CA361704842 | SLC26A2 | n.597T>G c.365T>G (p.Leu122Trp) c.38T>G (p.Leu13Trp) | |
| 5 | g.149978018G>A | CA447401961 | SLC26A2 | n.598G>A c.366G>A (p.Leu122=) c.39G>A (p.Leu13=) | |
| 5 | g.149978018G>C | CA361704845 | SLC26A2 | n.598G>C c.366G>C (p.Leu122Phe) c.39G>C (p.Leu13Phe) | |
| 5 | g.149978018G>T | CA361704846 | SLC26A2 | n.598G>T c.366G>T (p.Leu122Phe) c.39G>T (p.Leu13Phe) | gnomAD v4 |
| 5 | g.149978019G>A | CA361704847 | SLC26A2 | n.599G>A c.367G>A (p.Val123Met) c.40G>A (p.Val14Met) | gnomAD v4 |
| 5 | g.149978019G>C | CA361704848 | SLC26A2 | n.599G>C c.367G>C (p.Val123Leu) c.40G>C (p.Val14Leu) | |
| 5 | g.149978019G>T | CA361704849 | SLC26A2 | n.599G>T c.367G>T (p.Val123Leu) c.40G>T (p.Val14Leu) | |
| 5 | g.149978020T>A | CA361704852 | SLC26A2 | n.600T>A c.368T>A (p.Val123Glu) c.41T>A (p.Val14Glu) | |
| 5 | g.149978020T>C | CA361704850 | SLC26A2 | n.600T>C c.368T>C (p.Val123Ala) c.41T>C (p.Val14Ala) | |
| 5 | g.149978020T>G | CA361704851 | SLC26A2 | n.600T>G c.368T>G (p.Val123Gly) c.41T>G (p.Val14Gly) | |
| 5 | g.149978021G>A | CA447401968 | SLC26A2 | n.601G>A c.369G>A (p.Val123=) c.42G>A (p.Val14=) | |
| 5 | g.149978021G>C | CA447401969 | SLC26A2 | n.601G>C c.369G>C (p.Val123=) c.42G>C (p.Val14=) | |
| 5 | g.149978021G= | CA1590737365 | SLC26A2 | n.601G= c.369G= (p.Val123=) c.42G= (p.Val14=) | |
| 5 | g.149978021G>T | CA447401971 | SLC26A2 | n.601G>T c.369G>T (p.Val123=) c.42G>T (p.Val14=) | |
| 5 | g.149978022C>A | CA3505238 | SLC26A2 | n.602C>A c.370C>A (p.Pro124Thr) c.43C>A (p.Pro15Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149978022C= | CA1590737366 | SLC26A2 | n.602C= c.370C= (p.Pro124=) c.43C= (p.Pro15=) | |
| 5 | g.149978022C>G | CA361704853 | SLC26A2 | n.602C>G c.370C>G (p.Pro124Ala) c.43C>G (p.Pro15Ala) | |
| 5 | g.149978022C>T | CA361704854 | SLC26A2 | n.602C>T c.370C>T (p.Pro124Ser) c.43C>T (p.Pro15Ser) | |
| 5 | g.149978025dup | CA805557005 | SLC26A2 | n.605dup c.373dup (p.Gln125ProfsTer?) c.46dup (p.Gln16ProfsTer?) | dbSNP |
| 5 | g.149978023C>A | CA361704855 | SLC26A2 | n.603C>A c.371C>A (p.Pro124His) c.44C>A (p.Pro15His) | |
| 5 | g.149978023C>G | CA361704856 | SLC26A2 | n.603C>G c.371C>G (p.Pro124Arg) c.44C>G (p.Pro15Arg) | |
| 5 | g.149978023C>T | CA361704857 | SLC26A2 | n.603C>T c.371C>T (p.Pro124Leu) c.44C>T (p.Pro15Leu) | |
| 5 | g.149978024C>A | CA447401973 | SLC26A2 | n.604C>A c.372C>A (p.Pro124=) c.45C>A (p.Pro15=) | |
| 5 | g.149978024C>G | CA447401974 | SLC26A2 | n.604C>G c.372C>G (p.Pro124=) c.45C>G (p.Pro15=) | ClinVar |
| 5 | g.149978024C>T | CA447401975 | SLC26A2 | n.604C>T c.372C>T (p.Pro124=) c.45C>T (p.Pro15=) | |
| 5 | g.149978025C>A | CA361704859 | SLC26A2 | n.605C>A c.373C>A (p.Gln125Lys) c.46C>A (p.Gln16Lys) | |
| 5 | g.149978025C= | CA1590737367 | SLC26A2 | n.605C= c.373C= (p.Gln125=) c.46C= (p.Gln16=) | |
| 5 | g.149978025C>G | CA361704860 | SLC26A2 | n.605C>G c.373C>G (p.Gln125Glu) c.46C>G (p.Gln16Glu) | |
| 5 | g.149978025C>T | CA361704858 | SLC26A2 | n.605C>T c.373C>T (p.Gln125Ter) c.46C>T (p.Gln16Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149978026A= | CA1590737368 | SLC26A2 | n.606A= c.374A= (p.Gln125=) c.47A= (p.Gln16=) | |
| 5 | g.149978026A>C | CA129082385 | SLC26A2 | n.606A>C c.374A>C (p.Gln125Pro) c.47A>C (p.Gln16Pro) | dbSNP |
| 5 | g.149978026A>G | CA361704861 | SLC26A2 | n.606A>G c.374A>G (p.Gln125Arg) c.47A>G (p.Gln16Arg) | |
| 5 | g.149978026A>T | CA10576339 | SLC26A2 | n.606A>T c.374A>T (p.Gln125Leu) c.47A>T (p.Gln16Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149978027G>A | CA447401977 | SLC26A2 | n.607G>A c.375G>A (p.Gln125=) c.48G>A (p.Gln16=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149978027G>C | CA361704862 | SLC26A2 | n.607G>C c.375G>C (p.Gln125His) c.48G>C (p.Gln16His) | |
| 5 | g.149978027G= | CA1590737369 | SLC26A2 | n.607G= c.375G= (p.Gln125=) c.48G= (p.Gln16=) | |
| 5 | g.149978027G>T | CA361704863 | SLC26A2 | n.607G>T c.375G>T (p.Gln125His) c.48G>T (p.Gln16His) | |
| 5 | g.149978028T>A | CA361704864 | SLC26A2 | n.608T>A c.376T>A (p.Ser126Thr) c.49T>A (p.Ser17Thr) | |
| 5 | g.149978028T>C | CA361704865 | SLC26A2 | n.608T>C c.376T>C (p.Ser126Pro) c.49T>C (p.Ser17Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.149978028T>G | CA361704866 | SLC26A2 | n.608T>G c.376T>G (p.Ser126Ala) c.49T>G (p.Ser17Ala) | |
| 5 | g.149978028T= | CA1590737370 | SLC26A2 | n.608T= c.376T= (p.Ser126=) c.49T= (p.Ser17=) | |
| 5 | g.149978029C>A | CA361704867 | SLC26A2 | n.609C>A c.377C>A (p.Ser126Tyr) c.50C>A (p.Ser17Tyr) | |
| 5 | g.149978029C>G | CA361704868 | SLC26A2 | n.609C>G c.377C>G (p.Ser126Cys) c.50C>G (p.Ser17Cys) | |
| 5 | g.149978029C>T | CA361704869 | SLC26A2 | n.609C>T c.377C>T (p.Ser126Phe) c.50C>T (p.Ser17Phe) | |
| 5 | g.149978030C>A | CA447401979 | SLC26A2 | n.610C>A c.378C>A (p.Ser126=) c.51C>A (p.Ser17=) | |
| 5 | g.149978030C>G | CA447401980 | SLC26A2 | n.610C>G c.378C>G (p.Ser126=) c.51C>G (p.Ser17=) | ClinVar |
| 5 | g.149978030C>T | CA447401981 | SLC26A2 | n.610C>T c.378C>T (p.Ser126=) c.51C>T (p.Ser17=) | |
| 5 | g.149978031A= | CA1590737371 | SLC26A2 | n.611A= c.379A= (p.Ile127=) c.52A= (p.Ile18=) | |
| 5 | g.149978031A>C | CA361704870 | SLC26A2 | n.611A>C c.379A>C (p.Ile127Leu) c.52A>C (p.Ile18Leu) | |
| 5 | g.149978031A>G | CA361704872 | SLC26A2 | n.611A>G c.379A>G (p.Ile127Val) c.52A>G (p.Ile18Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149978031A>T | CA361704871 | SLC26A2 | n.611A>T c.379A>T (p.Ile127Phe) c.52A>T (p.Ile18Phe) | |
| 5 | g.149978032T>A | CA361704873 | SLC26A2 | n.612T>A c.380T>A (p.Ile127Asn) c.53T>A (p.Ile18Asn) | |
| 5 | g.149978032T>C | CA3505239 | SLC26A2 | n.612T>C c.380T>C (p.Ile127Thr) c.53T>C (p.Ile18Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149978032T>G | CA361704874 | SLC26A2 | n.612T>G c.380T>G (p.Ile127Ser) c.53T>G (p.Ile18Ser) | |
| 5 | g.149978032T= | CA1590737372 | SLC26A2 | n.612T= c.380T= (p.Ile127=) c.53T= (p.Ile18=) | |
| 5 | g.149978033T>A | CA447401869 | SLC26A2 | n.613T>A c.381T>A (p.Ile127=) c.54T>A (p.Ile18=) | |
| 5 | g.149978033T>C | CA447401871 | SLC26A2 | n.613T>C c.381T>C (p.Ile127=) c.54T>C (p.Ile18=) | |
| 5 | g.149978033T>G | CA361704875 | SLC26A2 | n.613T>G c.381T>G (p.Ile127Met) c.54T>G (p.Ile18Met) | ClinVar |
| 5 | g.149978034G>A | CA361704876 | SLC26A2 | n.614G>A c.382G>A (p.Ala128Thr) c.55G>A (p.Ala19Thr) | |
| 5 | g.149978034G>C | CA361704878 | SLC26A2 | n.614G>C c.382G>C (p.Ala128Pro) c.55G>C (p.Ala19Pro) | |
| 5 | g.149978034G>T | CA361704877 | SLC26A2 | n.614G>T c.382G>T (p.Ala128Ser) c.55G>T (p.Ala19Ser) | |
| 5 | g.149978035C>A | CA361704879 | SLC26A2 | n.615C>A c.383C>A (p.Ala128Asp) c.56C>A (p.Ala19Asp) | |
| 5 | g.149978035C= | CA1590737373 | SLC26A2 | n.615C= c.383C= (p.Ala128=) c.56C= (p.Ala19=) | |
| 5 | g.149978035C>G | CA361704880 | SLC26A2 | n.615C>G c.383C>G (p.Ala128Gly) c.56C>G (p.Ala19Gly) | |
| 5 | g.149978035C>T | CA3505240 | SLC26A2 | n.615C>T c.383C>T (p.Ala128Val) c.56C>T (p.Ala19Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978036T>A | CA447401877 | SLC26A2 | n.616T>A c.384T>A (p.Ala128=) c.57T>A (p.Ala19=) | ClinVar |
| 5 | g.149978036T>C | CA447401878 | SLC26A2 | n.616T>C c.384T>C (p.Ala128=) c.57T>C (p.Ala19=) | |
| 5 | g.149978036T>G | CA447401879 | SLC26A2 | n.616T>G c.384T>G (p.Ala128=) c.57T>G (p.Ala19=) | |
| 5 | g.149978037T>A | CA361704881 | SLC26A2 | n.617T>A c.385T>A (p.Tyr129Asn) c.58T>A (p.Tyr20Asn) | |
| 5 | g.149978037T>C | CA361704882 | SLC26A2 | n.617T>C c.385T>C (p.Tyr129His) c.58T>C (p.Tyr20His) | |
| 5 | g.149978037T>G | CA361704883 | SLC26A2 | n.617T>G c.385T>G (p.Tyr129Asp) c.58T>G (p.Tyr20Asp) | |
| 5 | g.149978038A>C | CA361704884 | SLC26A2 | n.618A>C c.386A>C (p.Tyr129Ser) c.59A>C (p.Tyr20Ser) | |
| 5 | g.149978038A>G | CA361704885 | SLC26A2 | n.618A>G c.386A>G (p.Tyr129Cys) c.59A>G (p.Tyr20Cys) | |
| 5 | g.149978038A>T | CA361704886 | SLC26A2 | n.618A>T c.386A>T (p.Tyr129Phe) c.59A>T (p.Tyr20Phe) |