Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149977978_149977983dup | CA658822212 | SLC26A2 | n.558_563dup c.326_331dup (p.Gly110_Asp111insValGly) | ClinVar dbSNP |
5 | g.149977983del | CA2675943467 | SLC26A2 | n.563del c.331del (p.Asp111MetfsTer2) c.4del (p.Asp2MetfsTer2) | gnomAD v4 |
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) | |
5 | g.149978039T>A | CA361704887 | SLC26A2 | n.619T>A c.387T>A (p.Tyr129Ter) c.60T>A (p.Tyr20Ter) | |
5 | g.149978039T>C | CA447401883 | SLC26A2 | n.619T>C c.387T>C (p.Tyr129=) c.60T>C (p.Tyr20=) | dbSNP |
5 | g.149978039T>G | CA361704888 | SLC26A2 | n.619T>G c.387T>G (p.Tyr129Ter) c.60T>G (p.Tyr20Ter) | ClinVar dbSNP |
5 | g.149978039T= | CA1590737374 | SLC26A2 | n.619T= c.387T= (p.Tyr129=) c.60T= (p.Tyr20=) | |
5 | g.149978040T>A | CA361704889 | SLC26A2 | n.620T>A c.388T>A (p.Ser130Thr) c.61T>A (p.Ser21Thr) | |
5 | g.149978040T>C | CA361704891 | SLC26A2 | n.620T>C c.388T>C (p.Ser130Pro) c.61T>C (p.Ser21Pro) | |
5 | g.149978040T>G | CA361704890 | SLC26A2 | n.620T>G c.388T>G (p.Ser130Ala) c.61T>G (p.Ser21Ala) | |
5 | g.149978040_149978041delinsTC | CA1590737375 | SLC26A2 | n.620_621delinsTC c.388_389delinsTC (p.Ser130=) c.61_62delinsTC (p.Ser21=) | |
5 | g.149978041C>A | CA361704892 | SLC26A2 | n.621C>A c.389C>A (p.Ser130Tyr) c.62C>A (p.Ser21Tyr) | |
5 | g.149978041C>G | CA361704893 | SLC26A2 | n.621C>G c.389C>G (p.Ser130Cys) c.62C>G (p.Ser21Cys) | |
5 | g.149978041C>T | CA361704894 | SLC26A2 | n.621C>T c.389C>T (p.Ser130Phe) c.62C>T (p.Ser21Phe) | ClinVar |
5 | g.149978043del | CA252989 | SLC26A2 | n.623del c.391del (p.Leu131CysfsTer?) c.64del (p.Leu22CysfsTer?) | ClinVar dbSNP |
5 | g.149978042C>A | CA447401888 | SLC26A2 | n.622C>A c.390C>A (p.Ser130=) c.63C>A (p.Ser21=) | |
5 | g.149978042C= | CA1590737376 | SLC26A2 | n.622C= c.390C= (p.Ser130=) c.63C= (p.Ser21=) | |
5 | g.149978042C>G | CA447401889 | SLC26A2 | n.622C>G c.390C>G (p.Ser130=) c.63C>G (p.Ser21=) | ClinVar |
5 | g.149978042C>T | CA447401890 | SLC26A2 | n.622C>T c.390C>T (p.Ser130=) c.63C>T (p.Ser21=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978043C>A | CA361704895 | SLC26A2 | n.623C>A c.391C>A (p.Leu131Met) c.64C>A (p.Leu22Met) | |
5 | g.149978043C>G | CA361704896 | SLC26A2 | n.623C>G c.391C>G (p.Leu131Val) c.64C>G (p.Leu22Val) | |
5 | g.149978043C>T | CA447401892 | SLC26A2 | n.623C>T c.391C>T (p.Leu131=) c.64C>T (p.Leu22=) | gnomAD v4 |
5 | g.149978044T>A | CA361704897 | SLC26A2 | n.624T>A c.392T>A (p.Leu131Gln) c.65T>A (p.Leu22Gln) | |
5 | g.149978044T>C | CA361704898 | SLC26A2 | n.624T>C c.392T>C (p.Leu131Pro) c.65T>C (p.Leu22Pro) | gnomAD v4 |
5 | g.149978044T>G | CA361704899 | SLC26A2 | n.624T>G c.392T>G (p.Leu131Arg) c.65T>G (p.Leu22Arg) | |
5 | g.149978045G>A | CA447401898 | SLC26A2 | n.625G>A c.393G>A (p.Leu131=) c.66G>A (p.Leu22=) | dbSNP |
5 | g.149978045G>C | CA447401899 | SLC26A2 | n.625G>C c.393G>C (p.Leu131=) c.66G>C (p.Leu22=) | ClinVar gnomAD v4 |
5 | g.149978045G= | CA1590737377 | SLC26A2 | n.625G= c.393G= (p.Leu131=) c.66G= (p.Leu22=) | |
5 | g.149978045G>T | CA447401900 | SLC26A2 | n.625G>T c.393G>T (p.Leu131=) c.66G>T (p.Leu22=) | |
5 | g.149978051_149978054dup | CA2740094132 | SLC26A2 | n.631_634dup c.399_402dup (p.Gln135TrpfsTer?) c.72_75dup (p.Gln26TrpfsTer?) | ClinVar |
5 | g.149978046C>A | CA361704900 | SLC26A2 | n.626C>A c.394C>A (p.Leu132Met) c.67C>A (p.Leu23Met) | |
5 | g.149978046C>G | CA361704901 | SLC26A2 | n.626C>G c.394C>G (p.Leu132Val) c.67C>G (p.Leu23Val) | gnomAD v4 |
5 | g.149978046C>T | CA447401901 | SLC26A2 | n.626C>T c.394C>T (p.Leu132=) c.67C>T (p.Leu23=) | |
5 | g.149978047T>A | CA361704904 | SLC26A2 | n.627T>A c.395T>A (p.Leu132Gln) c.68T>A (p.Leu23Gln) | |
5 | g.149978047T>C | CA361704903 | SLC26A2 | n.627T>C c.395T>C (p.Leu132Pro) c.68T>C (p.Leu23Pro) | ClinVar dbSNP gnomAD v4 |
5 | g.149978047T>G | CA361704902 | SLC26A2 | n.627T>G c.395T>G (p.Leu132Arg) c.68T>G (p.Leu23Arg) | |
5 | g.149978047T= | CA1590737378 | SLC26A2 | n.627T= c.395T= (p.Leu132=) c.68T= (p.Leu23=) | |
5 | g.149978048G>A | CA447401905 | SLC26A2 | n.628G>A c.396G>A (p.Leu132=) c.69G>A (p.Leu23=) | |
5 | g.149978048G>C | CA447401903 | SLC26A2 | n.628G>C c.396G>C (p.Leu132=) c.69G>C (p.Leu23=) | |
5 | g.149978048G= | CA1590737379 | SLC26A2 | n.628G= c.396G= (p.Leu132=) c.69G= (p.Leu23=) | |
5 | g.149978048G>T | CA447401902 | SLC26A2 | n.628G>T c.396G>T (p.Leu132=) c.69G>T (p.Leu23=) | dbSNP |
5 | g.149978049G>A | CA361704905 | SLC26A2 | n.629G>A c.397G>A (p.Ala133Thr) c.70G>A (p.Ala24Thr) | |
5 | g.149978049G>C | CA3505241 | SLC26A2 | n.629G>C c.397G>C (p.Ala133Pro) c.70G>C (p.Ala24Pro) | dbSNP ExAC gnomAD v2 |
5 | g.149978049G= | CA1590737380 | SLC26A2 | n.629G= c.397G= (p.Ala133=) c.70G= (p.Ala24=) | |
5 | g.149978049G>T | CA361704906 | SLC26A2 | n.629G>T c.397G>T (p.Ala133Ser) c.70G>T (p.Ala24Ser) | |
5 | g.149978050C>A | CA361704907 | SLC26A2 | n.630C>A c.398C>A (p.Ala133Asp) c.71C>A (p.Ala24Asp) | |
5 | g.149978050C= | CA1590737381 | SLC26A2 | n.630C= c.398C= (p.Ala133=) c.71C= (p.Ala24=) | |
5 | g.149978050C>G | CA361704908 | SLC26A2 | n.630C>G c.398C>G (p.Ala133Gly) c.71C>G (p.Ala24Gly) | |
5 | g.149978050C>T | CA252998 | SLC26A2 | n.630C>T c.398C>T (p.Ala133Val) c.71C>T (p.Ala24Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978051T>A | CA447401912 | SLC26A2 | n.631T>A c.399T>A (p.Ala133=) c.72T>A (p.Ala24=) | |
5 | g.149978051T>C | CA447401910 | SLC26A2 | n.631T>C c.399T>C (p.Ala133=) c.72T>C (p.Ala24=) | |
5 | g.149978051T>G | CA447401907 | SLC26A2 | n.631T>G c.399T>G (p.Ala133=) c.72T>G (p.Ala24=) | |
5 | g.149978051T= | CA1590737382 | SLC26A2 | n.631T= c.399T= (p.Ala133=) c.72T= (p.Ala24=) | |
5 | g.149978052G>A | CA361704909 | SLC26A2 | n.632G>A c.400G>A (p.Gly134Ser) c.73G>A (p.Gly25Ser) | |
5 | g.149978052G>C | CA361704910 | SLC26A2 | n.632G>C c.400G>C (p.Gly134Arg) c.73G>C (p.Gly25Arg) | |
5 | g.149978052G>T | CA361704911 | SLC26A2 | n.632G>T c.400G>T (p.Gly134Cys) c.73G>T (p.Gly25Cys) | |
5 | g.149978052_149978055dup | CA1590737383 | SLC26A2 | n.632_635dup c.400_403dup (p.Gln135ArgfsTer?) c.73_76dup (p.Gln26ArgfsTer?) | dbSNP |
5 | g.149978053G>A | CA361704912 | SLC26A2 | n.633G>A c.401G>A (p.Gly134Asp) c.74G>A (p.Gly25Asp) | |
5 | g.149978053G>C | CA361704913 | SLC26A2 | n.633G>C c.401G>C (p.Gly134Ala) c.74G>C (p.Gly25Ala) | |
5 | g.149978053G>T | CA361704914 | SLC26A2 | n.633G>T c.401G>T (p.Gly134Val) c.74G>T (p.Gly25Val) | |
5 | g.149978054C>A | CA447401914 | SLC26A2 | n.634C>A c.402C>A (p.Gly134=) c.75C>A (p.Gly25=) | |
5 | g.149978054C>G | CA447401917 | SLC26A2 | n.634C>G c.402C>G (p.Gly134=) c.75C>G (p.Gly25=) | |
5 | g.149978054C>T | CA447401915 | SLC26A2 | n.634C>T c.402C>T (p.Gly134=) c.75C>T (p.Gly25=) | ClinVar |
5 | g.149978055C>A | CA263263 | SLC26A2 | n.635C>A c.403C>A (p.Gln135Lys) c.76C>A (p.Gln26Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978055C= | CA1590737384 | SLC26A2 | n.635C= c.403C= (p.Gln135=) c.76C= (p.Gln26=) | |
5 | g.149978055C>G | CA361704916 | SLC26A2 | n.635C>G c.403C>G (p.Gln135Glu) c.76C>G (p.Gln26Glu) | |
5 | g.149978055C>T | CA361704915 | SLC26A2 | n.635C>T c.403C>T (p.Gln135Ter) c.76C>T (p.Gln26Ter) | gnomAD v4 |
5 | g.149978056A>C | CA361704917 | SLC26A2 | n.636A>C c.404A>C (p.Gln135Pro) c.77A>C (p.Gln26Pro) | |
5 | g.149978056A>G | CA361704919 | SLC26A2 | n.636A>G c.404A>G (p.Gln135Arg) c.77A>G (p.Gln26Arg) | |
5 | g.149978056A>T | CA361704918 | SLC26A2 | n.636A>T c.404A>T (p.Gln135Leu) c.77A>T (p.Gln26Leu) | |
5 | g.149978057A>C | CA361704920 | SLC26A2 | n.637A>C c.405A>C (p.Gln135His) c.78A>C (p.Gln26His) | |
5 | g.149978057A>G | CA447401925 | SLC26A2 | n.637A>G c.405A>G (p.Gln135=) c.78A>G (p.Gln26=) | |
5 | g.149978057A>T | CA361704921 | SLC26A2 | n.637A>T c.405A>T (p.Gln135His) c.78A>T (p.Gln26His) | |
5 | g.149978058G>A | CA361704922 | SLC26A2 | n.638G>A c.406G>A (p.Glu136Lys) c.79G>A (p.Glu27Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978058G>C | CA361704923 | SLC26A2 | n.638G>C c.406G>C (p.Glu136Gln) c.79G>C (p.Glu27Gln) | |
5 | g.149978058G= | CA1590737385 | SLC26A2 | n.638G= c.406G= (p.Glu136=) c.79G= (p.Glu27=) | |
5 | g.149978058G>T | CA361704924 | SLC26A2 | n.638G>T c.406G>T (p.Glu136Ter) c.79G>T (p.Glu27Ter) | |
5 | g.149978059A>C | CA361704925 | SLC26A2 | n.639A>C c.407A>C (p.Glu136Ala) c.80A>C (p.Glu27Ala) | |
5 | g.149978059A>G | CA361704926 | SLC26A2 | n.639A>G c.407A>G (p.Glu136Gly) c.80A>G (p.Glu27Gly) | |
5 | g.149978059A>T | CA361704927 | SLC26A2 | n.639A>T c.407A>T (p.Glu136Val) c.80A>T (p.Glu27Val) | |
5 | g.149978060A>C | CA361704928 | SLC26A2 | n.640A>C c.408A>C (p.Glu136Asp) c.81A>C (p.Glu27Asp) | |
5 | g.149978060A>G | CA447401933 | SLC26A2 | n.640A>G c.408A>G (p.Glu136=) c.81A>G (p.Glu27=) | ClinVar gnomAD v4 |
5 | g.149978060A>T | CA361704929 | SLC26A2 | n.640A>T c.408A>T (p.Glu136Asp) c.81A>T (p.Glu27Asp) | |
5 | g.149978061C>A | CA361704931 | SLC26A2 | n.641C>A c.409C>A (p.Pro137Thr) c.82C>A (p.Pro28Thr) | |
5 | g.149978061C= | CA1590737386 | SLC26A2 | n.641C= c.409C= (p.Pro137=) c.82C= (p.Pro28=) | |
5 | g.149978061C>G | CA361704930 | SLC26A2 | n.641C>G c.409C>G (p.Pro137Ala) c.82C>G (p.Pro28Ala) | |
5 | g.149978061C>T | CA3505242 | SLC26A2 | n.641C>T c.409C>T (p.Pro137Ser) c.82C>T (p.Pro28Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978062C>A | CA361704932 | SLC26A2 | n.642C>A c.410C>A (p.Pro137His) c.83C>A (p.Pro28His) | |
5 | g.149978062C>G | CA361704933 | SLC26A2 | n.642C>G c.410C>G (p.Pro137Arg) c.83C>G (p.Pro28Arg) | |
5 | g.149978062C>T | CA361704934 | SLC26A2 | n.642C>T c.410C>T (p.Pro137Leu) c.83C>T (p.Pro28Leu) | gnomAD v4 |
5 | g.149978063T>A | CA447401939 | SLC26A2 | n.643T>A c.411T>A (p.Pro137=) c.84T>A (p.Pro28=) | |
5 | g.149978063T>C | CA447401941 | SLC26A2 | n.643T>C c.411T>C (p.Pro137=) c.84T>C (p.Pro28=) | |
5 | g.149978063T>G | CA447401942 | SLC26A2 | n.643T>G c.411T>G (p.Pro137=) c.84T>G (p.Pro28=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978063T= | CA1590737387 | SLC26A2 | n.643T= c.411T= (p.Pro137=) c.84T= (p.Pro28=) | |
5 | g.149978064G>A | CA361704935 | SLC26A2 | n.644G>A c.412G>A (p.Val138Ile) c.85G>A (p.Val29Ile) | gnomAD v4 |
5 | g.149978064G>C | CA361704936 | SLC26A2 | n.644G>C c.412G>C (p.Val138Leu) c.85G>C (p.Val29Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978064G= | CA1590737388 | SLC26A2 | n.644G= c.412G= (p.Val138=) c.85G= (p.Val29=) | |
5 | g.149978064G>T | CA361704937 | SLC26A2 | n.644G>T c.412G>T (p.Val138Phe) c.85G>T (p.Val29Phe) | |
5 | g.149978065T>A | CA361704938 | SLC26A2 | n.645T>A c.413T>A (p.Val138Asp) c.86T>A (p.Val29Asp) | |
5 | g.149978065T>C | CA361704939 | SLC26A2 | n.645T>C c.413T>C (p.Val138Ala) c.86T>C (p.Val29Ala) | |
5 | g.149978065T>G | CA361704940 | SLC26A2 | n.645T>G c.413T>G (p.Val138Gly) c.86T>G (p.Val29Gly) | |
5 | g.149978066C>A | CA447401949 | SLC26A2 | n.646C>A c.414C>A (p.Val138=) c.87C>A (p.Val29=) | ClinVar |
5 | g.149978066C>G | CA447401950 | SLC26A2 | n.646C>G c.414C>G (p.Val138=) c.87C>G (p.Val29=) | |
5 | g.149978066C>T | CA447401951 | SLC26A2 | n.646C>T c.414C>T (p.Val138=) c.87C>T (p.Val29=) | |
5 | g.149978067T>A | CA361704941 | SLC26A2 | n.647T>A c.415T>A (p.Tyr139Asn) c.88T>A (p.Tyr30Asn) | |
5 | g.149978067T>C | CA361704942 | SLC26A2 | n.647T>C c.415T>C (p.Tyr139His) c.88T>C (p.Tyr30His) | |
5 | g.149978067T>G | CA361704943 | SLC26A2 | n.647T>G c.415T>G (p.Tyr139Asp) c.88T>G (p.Tyr30Asp) | |
5 | g.149978068A= | CA1590737389 | SLC26A2 | n.648A= c.416A= (p.Tyr139=) c.89A= (p.Tyr30=) | |
5 | g.149978068A>C | CA361704945 | SLC26A2 | n.648A>C c.416A>C (p.Tyr139Ser) c.89A>C (p.Tyr30Ser) | |
5 | g.149978068A>G | CA361704946 | SLC26A2 | n.648A>G c.416A>G (p.Tyr139Cys) c.89A>G (p.Tyr30Cys) | dbSNP gnomAD v4 |
5 | g.149978068A>T | CA361704944 | SLC26A2 | n.648A>T c.416A>T (p.Tyr139Phe) c.89A>T (p.Tyr30Phe) | |
5 | g.149978069T>A | CA361704947 | SLC26A2 | n.649T>A c.417T>A (p.Tyr139Ter) c.90T>A (p.Tyr30Ter) | |
5 | g.149978069T>C | CA447401959 | SLC26A2 | n.649T>C c.417T>C (p.Tyr139=) c.90T>C (p.Tyr30=) | |
5 | g.149978069T>G | CA361704948 | SLC26A2 | n.649T>G c.417T>G (p.Tyr139Ter) c.90T>G (p.Tyr30Ter) | |
5 | g.149978070G>A | CA361704949 | SLC26A2 | n.650G>A c.418G>A (p.Gly140Ser) c.91G>A (p.Gly31Ser) | |
5 | g.149978070G>C | CA361704950 | SLC26A2 | n.650G>C c.418G>C (p.Gly140Arg) c.91G>C (p.Gly31Arg) | |
5 | g.149978070G>T | CA361704951 | SLC26A2 | n.650G>T c.418G>T (p.Gly140Cys) c.91G>T (p.Gly31Cys) | gnomAD v4 |
5 | g.149978071G>A | CA361704952 | SLC26A2 | n.651G>A c.419G>A (p.Gly140Asp) c.92G>A (p.Gly31Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978071G>C | CA361704953 | SLC26A2 | n.651G>C c.419G>C (p.Gly140Ala) c.92G>C (p.Gly31Ala) | |
5 | g.149978071G= | CA1590737390 | SLC26A2 | n.651G= c.419G= (p.Gly140=) c.92G= (p.Gly31=) | |
5 | g.149978071G>T | CA361704954 | SLC26A2 | n.651G>T c.419G>T (p.Gly140Val) c.92G>T (p.Gly31Val) | gnomAD v4 |
5 | g.149978072T>A | CA447401965 | SLC26A2 | n.652T>A c.420T>A (p.Gly140=) c.93T>A (p.Gly31=) | |
5 | g.149978072T>C | CA447401967 | SLC26A2 | n.652T>C c.420T>C (p.Gly140=) c.93T>C (p.Gly31=) | ClinVar |
5 | g.149978072T>G | CA447401966 | SLC26A2 | n.652T>G c.420T>G (p.Gly140=) c.93T>G (p.Gly31=) | |
5 | g.149978073C>A | CA361704955 | SLC26A2 | n.653C>A c.421C>A (p.Leu141Met) c.94C>A (p.Leu32Met) | |
5 | g.149978073C= | CA1590737391 | SLC26A2 | n.653C= c.421C= (p.Leu141=) c.94C= (p.Leu32=) | |
5 | g.149978073C>G | CA361704956 | SLC26A2 | n.653C>G c.421C>G (p.Leu141Val) c.94C>G (p.Leu32Val) | |
5 | g.149978073C>T | CA447401970 | SLC26A2 | n.653C>T c.421C>T (p.Leu141=) c.94C>T (p.Leu32=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978074T>A | CA361704957 | SLC26A2 | n.654T>A c.422T>A (p.Leu141Gln) c.95T>A (p.Leu32Gln) | |
5 | g.149978074T>C | CA3505243 | SLC26A2 | n.654T>C c.422T>C (p.Leu141Pro) c.95T>C (p.Leu32Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978074T>G | CA361704958 | SLC26A2 | n.654T>G c.422T>G (p.Leu141Arg) c.95T>G (p.Leu32Arg) | |
5 | g.149978074T= | CA1590737392 | SLC26A2 | n.654T= c.422T= (p.Leu141=) c.95T= (p.Leu32=) | |
5 | g.149978075G>A | CA3505245 | SLC26A2 | n.655G>A c.423G>A (p.Leu141=) c.96G>A (p.Leu32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978075G>C | CA3505244 | SLC26A2 | n.655G>C c.423G>C (p.Leu141=) c.96G>C (p.Leu32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978075G= | CA1590737393 | SLC26A2 | n.655G= c.423G= (p.Leu141=) c.96G= (p.Leu32=) | |
5 | g.149978075G>T | CA447401976 | SLC26A2 | n.655G>T c.423G>T (p.Leu141=) c.96G>T (p.Leu32=) | gnomAD v4 |
5 | g.149978076T>A | CA361704959 | SLC26A2 | n.656T>A c.424T>A (p.Tyr142Asn) c.97T>A (p.Tyr33Asn) | |
5 | g.149978076T>C | CA361704960 | SLC26A2 | n.656T>C c.424T>C (p.Tyr142His) c.97T>C (p.Tyr33His) | COSMIC |
5 | g.149978076T>G | CA361704961 | SLC26A2 | n.656T>G c.424T>G (p.Tyr142Asp) c.97T>G (p.Tyr33Asp) | |
5 | g.149978077A>C | CA361704962 | SLC26A2 | n.657A>C c.425A>C (p.Tyr142Ser) c.98A>C (p.Tyr33Ser) | |
5 | g.149978077A>G | CA361704963 | SLC26A2 | n.657A>G c.425A>G (p.Tyr142Cys) c.98A>G (p.Tyr33Cys) | |
5 | g.149978077A>T | CA361704964 | SLC26A2 | n.657A>T c.425A>T (p.Tyr142Phe) c.98A>T (p.Tyr33Phe) | |
5 | g.149978077_149978078insTTGAT | CA2543984931 | SLC26A2 | n.657_658insTTGAT c.425_426insTTGAT (p.Thr143Ter) c.98_99insTTGAT (p.Thr34Ter) | |
5 | g.149978078C>A | CA361704966 | SLC26A2 | n.658C>A c.426C>A (p.Tyr142Ter) c.99C>A (p.Tyr33Ter) | ClinVar |
5 | g.149978078C>G | CA361704965 | SLC26A2 | n.658C>G c.426C>G (p.Tyr142Ter) c.99C>G (p.Tyr33Ter) | |
5 | g.149978078C>T | CA447401978 | SLC26A2 | n.658C>T c.426C>T (p.Tyr142=) c.99C>T (p.Tyr33=) | ClinVar dbSNP |
5 | g.149978079A= | CA1590737394 | SLC26A2 | n.659A= c.427A= (p.Thr143=) c.100A= (p.Thr34=) | |
5 | g.149978079A>C | CA361704967 | SLC26A2 | n.659A>C c.427A>C (p.Thr143Pro) c.100A>C (p.Thr34Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978079A>G | CA361704968 | SLC26A2 | n.659A>G c.427A>G (p.Thr143Ala) c.100A>G (p.Thr34Ala) | gnomAD v4 |
5 | g.149978079A>T | CA361704969 | SLC26A2 | n.659A>T c.427A>T (p.Thr143Ser) c.100A>T (p.Thr34Ser) | |
5 | g.149978080C>A | CA3505246 | SLC26A2 | n.660C>A c.428C>A (p.Thr143Lys) c.101C>A (p.Thr34Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978080C= | CA1590737395 | SLC26A2 | n.660C= c.428C= (p.Thr143=) c.101C= (p.Thr34=) | |
5 | g.149978080C>G | CA361704970 | SLC26A2 | n.660C>G c.428C>G (p.Thr143Arg) c.101C>G (p.Thr34Arg) | |
5 | g.149978080C>T | CA361704971 | SLC26A2 | n.660C>T c.428C>T (p.Thr143Ile) c.101C>T (p.Thr34Ile) | gnomAD v4 |
5 | g.149978081A= | CA1590737396 | SLC26A2 | n.661A= c.429A= (p.Thr143=) c.102A= (p.Thr34=) | |
5 | g.149978081A>C | CA447401982 | SLC26A2 | n.661A>C c.429A>C (p.Thr143=) c.102A>C (p.Thr34=) | |
5 | g.149978081A>G | CA447401983 | SLC26A2 | n.661A>G c.429A>G (p.Thr143=) c.102A>G (p.Thr34=) | |
5 | g.149978081A>T | CA447401984 | SLC26A2 | n.661A>T c.429A>T (p.Thr143=) c.102A>T (p.Thr34=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978082T>A | CA361704972 | SLC26A2 | n.662T>A c.430T>A (p.Ser144Thr) c.103T>A (p.Ser35Thr) | gnomAD v4 |
5 | g.149978082T>C | CA361704974 | SLC26A2 | n.662T>C c.430T>C (p.Ser144Pro) c.103T>C (p.Ser35Pro) | gnomAD v4 |
5 | g.149978082T>G | CA361704973 | SLC26A2 | n.662T>G c.430T>G (p.Ser144Ala) c.103T>G (p.Ser35Ala) | |
5 | g.149978083_149978084del | CA913108442 | SLC26A2 | n.663_664del c.431_432del (p.Ser144PhefsTer30) c.104_105del (p.Ser35PhefsTer30) |