| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981706_149981708del | CA2675943661 | SLC26A2 | c.2113_2115del (p.Glu705del) c.372+3355_372+3357del (n.372+3355_372+3357del) | gnomAD v4 |
| 5 | g.149981702del | CA2580073971 | SLC26A2 | c.2109del (p.Glu704LysfsTer?) c.372+3351del (n.372+3351del) | ClinVar |
| 5 | g.149981702A>C | CA361709828 | SLC26A2 | c.2109A>C (p.Glu703Asp) c.372+3351A>C (n.372+3351A>C) | |
| 5 | g.149981702A>G | CA447149371 | SLC26A2 | c.2109A>G (p.Glu703=) c.372+3351A>G (n.372+3351A>G) | |
| 5 | g.149981702A>T | CA361709829 | SLC26A2 | c.2109A>T (p.Glu703Asp) c.372+3351A>T (n.372+3351A>T) | |
| 5 | g.149981703G>A | CA361709830 | SLC26A2 | c.2110G>A (p.Glu704Lys) c.372+3352G>A (n.372+3352G>A) | gnomAD v4 |
| 5 | g.149981703G>C | CA361709831 | SLC26A2 | c.2110G>C (p.Glu704Gln) c.372+3352G>C (n.372+3352G>C) | |
| 5 | g.149981703G>T | CA361709832 | SLC26A2 | c.2110G>T (p.Glu704Ter) c.372+3352G>T (n.372+3352G>T) | |
| 5 | g.149981704A>C | CA361709833 | SLC26A2 | c.2111A>C (p.Glu704Ala) c.372+3353A>C (n.372+3353A>C) | |
| 5 | g.149981704A>G | CA361709834 | SLC26A2 | c.2111A>G (p.Glu704Gly) c.372+3353A>G (n.372+3353A>G) | |
| 5 | g.149981704A>T | CA361709835 | SLC26A2 | c.2111A>T (p.Glu704Val) c.372+3353A>T (n.372+3353A>T) | |
| 5 | g.149981705A>C | CA361709836 | SLC26A2 | c.2112A>C (p.Glu704Asp) c.372+3354A>C (n.372+3354A>C) | |
| 5 | g.149981705A>G | CA447149382 | SLC26A2 | c.2112A>G (p.Glu704=) c.372+3354A>G (n.372+3354A>G) | |
| 5 | g.149981705A>T | CA361709837 | SLC26A2 | c.2112A>T (p.Glu704Asp) c.372+3354A>T (n.372+3354A>T) | |
| 5 | g.149981706G>A | CA361709838 | SLC26A2 | c.2113G>A (p.Glu705Lys) c.372+3355G>A (n.372+3355G>A) | |
| 5 | g.149981706G>C | CA361709839 | SLC26A2 | c.2113G>C (p.Glu705Gln) c.372+3355G>C (n.372+3355G>C) | |
| 5 | g.149981706G= | CA1590738903 | SLC26A2 | c.2113G= (p.Glu705=) c.372+3355G= (n.372+3355G=) | |
| 5 | g.149981706G>T | CA361709840 | SLC26A2 | c.2113G>T (p.Glu705Ter) c.372+3355G>T (n.372+3355G>T) | |
| 5 | g.149981707A= | CA1590738904 | SLC26A2 | c.2114A= (p.Glu705=) c.372+3356A= (n.372+3356A=) | |
| 5 | g.149981707A>C | CA361709841 | SLC26A2 | c.2114A>C (p.Glu705Ala) c.372+3356A>C (n.372+3356A>C) | |
| 5 | g.149981707A>G | CA361709843 | SLC26A2 | c.2114A>G (p.Glu705Gly) c.372+3356A>G (n.372+3356A>G) | |
| 5 | g.149981707A>T | CA361709842 | SLC26A2 | c.2114A>T (p.Glu705Val) c.372+3356A>T (n.372+3356A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981710dup | CA1590738905 | SLC26A2 | c.2117dup (p.Asn706LysfsTer6) c.372+3359dup (n.372+3359dup) | dbSNP |
| 5 | g.149981708A= | CA1590738906 | SLC26A2 | c.2115A= (p.Glu705=) c.372+3357A= (n.372+3357A=) | |
| 5 | g.149981708A>C | CA361709844 | SLC26A2 | c.2115A>C (p.Glu705Asp) c.372+3357A>C (n.372+3357A>C) | |
| 5 | g.149981708A>G | CA447149401 | SLC26A2 | c.2115A>G (p.Glu705=) c.372+3357A>G (n.372+3357A>G) | dbSNP gnomAD v4 |
| 5 | g.149981708A>T | CA361709845 | SLC26A2 | c.2115A>T (p.Glu705Asp) c.372+3357A>T (n.372+3357A>T) | |
| 5 | g.149981709A>C | CA361709846 | SLC26A2 | c.2116A>C (p.Asn706His) c.372+3358A>C (n.372+3358A>C) | |
| 5 | g.149981709A>G | CA361709847 | SLC26A2 | c.2116A>G (p.Asn706Asp) c.372+3358A>G (n.372+3358A>G) | |
| 5 | g.149981709A>T | CA361709848 | SLC26A2 | c.2116A>T (p.Asn706Tyr) c.372+3358A>T (n.372+3358A>T) | |
| 5 | g.149981710A>C | CA361709849 | SLC26A2 | c.2117A>C (p.Asn706Thr) c.372+3359A>C (n.372+3359A>C) | |
| 5 | g.149981710A>G | CA361709850 | SLC26A2 | c.2117A>G (p.Asn706Ser) c.372+3359A>G (n.372+3359A>G) | |
| 5 | g.149981710A>T | CA361709851 | SLC26A2 | c.2117A>T (p.Asn706Ile) c.372+3359A>T (n.372+3359A>T) | |
| 5 | g.149981711C>A | CA361709852 | SLC26A2 | c.2118C>A (p.Asn706Lys) c.372+3360C>A (n.372+3360C>A) | gnomAD v4 |
| 5 | g.149981711C>G | CA361709853 | SLC26A2 | c.2118C>G (p.Asn706Lys) c.372+3360C>G (n.372+3360C>G) | |
| 5 | g.149981711C>T | CA447149413 | SLC26A2 | c.2118C>T (p.Asn706=) c.372+3360C>T (n.372+3360C>T) | |
| 5 | g.149981711_149981714delinsCCTT | CA1590738908 | SLC26A2 | c.2118_2121delinsCCTT (p.Asn706=) c.372+3360_372+3363delinsCCTT (n.372+3360_372+3363delinsCCTT) | |
| 5 | g.149981712_149981715del | CA913108434 | SLC26A2 | c.2119_2122del (p.Leu707SerfsTer27) c.372+3361_372+3364del (n.372+3361_372+3364del) | |
| 5 | g.149981711_149981716delinsCCTTCT | CA1590738907 | SLC26A2 | c.2118_2123delinsCCTTCT (p.Asn706=) c.372+3360_372+3365delinsCCTTCT (n.372+3360_372+3365delinsCCTTCT) | |
| 5 | g.149981712C>A | CA361709854 | SLC26A2 | c.2119C>A (p.Leu707Ile) c.372+3361C>A (n.372+3361C>A) | |
| 5 | g.149981712C= | CA1590738910 | SLC26A2 | c.2119C= (p.Leu707=) c.372+3361C= (n.372+3361C=) | |
| 5 | g.149981712C>G | CA361709856 | SLC26A2 | c.2119C>G (p.Leu707Val) c.372+3361C>G (n.372+3361C>G) | gnomAD v4 |
| 5 | g.149981712C>T | CA361709855 | SLC26A2 | c.2119C>T (p.Leu707Phe) c.372+3361C>T (n.372+3361C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981712_149981713dup | CA2695205563 | SLC26A2 | c.2119_2120dup (p.Leu708PhefsTer28) c.372+3361_372+3362dup (n.372+3361_372+3362dup) | |
| 5 | g.149981712_149981714delinsCTT | CA1590738909 | SLC26A2 | c.2119_2121delinsCTT (p.Leu707=) c.372+3361_372+3363delinsCTT (n.372+3361_372+3363delinsCTT) | |
| 5 | g.149981714_149981716del | CA658823317 | SLC26A2 | c.2121_2123del (p.Leu708del) c.372+3363_372+3365del (n.372+3363_372+3365del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981717_149981721del | CA805532574 | SLC26A2 | c.2124_2128del (p.Phe709Ter) c.372+3366_372+3370del (n.372+3366_372+3370del) | dbSNP |
| 5 | g.149981713T>A | CA361709857 | SLC26A2 | c.2120T>A (p.Leu707His) c.372+3362T>A (n.372+3362T>A) | |
| 5 | g.149981713T>C | CA361709858 | SLC26A2 | c.2120T>C (p.Leu707Pro) c.372+3362T>C (n.372+3362T>C) | |
| 5 | g.149981713T>G | CA361709859 | SLC26A2 | c.2120T>G (p.Leu707Arg) c.372+3362T>G (n.372+3362T>G) | |
| 5 | g.149981713T= | CA1590738911 | SLC26A2 | c.2120T= (p.Leu707=) c.372+3362T= (n.372+3362T=) | |
| 5 | g.149981713_149981714del | CA263258 | SLC26A2 | c.2120_2121del (p.Leu707ProfsTer4) c.372+3362_372+3363del (n.372+3362_372+3363del) | ClinVar dbSNP |
| 5 | g.149981714T>A | CA447149425 | SLC26A2 | c.2121T>A (p.Leu707=) c.372+3363T>A (n.372+3363T>A) | |
| 5 | g.149981714T>C | CA447149427 | SLC26A2 | c.2121T>C (p.Leu707=) c.372+3363T>C (n.372+3363T>C) | |
| 5 | g.149981714T>G | CA447149429 | SLC26A2 | c.2121T>G (p.Leu707=) c.372+3363T>G (n.372+3363T>G) | |
| 5 | g.149981717_149981718dup | CA563955745 | SLC26A2 | c.2124_2125dup (p.Phe709SerfsTer27) c.372+3366_372+3367dup (n.372+3366_372+3367dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981715C>A | CA361709860 | SLC26A2 | c.2122C>A (p.Leu708Ile) c.372+3364C>A (n.372+3364C>A) | |
| 5 | g.149981715C>G | CA361709862 | SLC26A2 | c.2122C>G (p.Leu708Val) c.372+3364C>G (n.372+3364C>G) | |
| 5 | g.149981715C>T | CA361709861 | SLC26A2 | c.2122C>T (p.Leu708Phe) c.372+3364C>T (n.372+3364C>T) | |
| 5 | g.149981716T>A | CA361709863 | SLC26A2 | c.2123T>A (p.Leu708His) c.372+3365T>A (n.372+3365T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981716T>C | CA361709864 | SLC26A2 | c.2123T>C (p.Leu708Pro) c.372+3365T>C (n.372+3365T>C) | dbSNP gnomAD v4 |
| 5 | g.149981716T>G | CA361709865 | SLC26A2 | c.2123T>G (p.Leu708Arg) c.372+3365T>G (n.372+3365T>G) | |
| 5 | g.149981716T= | CA1590738912 | SLC26A2 | c.2123T= (p.Leu708=) c.372+3365T= (n.372+3365T=) | |
| 5 | g.149981717C>A | CA447149438 | SLC26A2 | c.2124C>A (p.Leu708=) c.372+3366C>A (n.372+3366C>A) | |
| 5 | g.149981717C>G | CA447149439 | SLC26A2 | c.2124C>G (p.Leu708=) c.372+3366C>G (n.372+3366C>G) | |
| 5 | g.149981717C>T | CA447149441 | SLC26A2 | c.2124C>T (p.Leu708=) c.372+3366C>T (n.372+3366C>T) | ClinVar gnomAD v4 |
| 5 | g.149981717_149981719delinsCTT | CA1590738913 | SLC26A2 | c.2124_2126delinsCTT (p.Leu708=) c.372+3366_372+3368delinsCTT (n.372+3366_372+3368delinsCTT) | |
| 5 | g.149981718T>A | CA361709866 | SLC26A2 | c.2125T>A (p.Phe709Ile) c.372+3367T>A (n.372+3367T>A) | dbSNP |
| 5 | g.149981718T>C | CA361709867 | SLC26A2 | c.2125T>C (p.Phe709Leu) c.372+3367T>C (n.372+3367T>C) | gnomAD v4 |
| 5 | g.149981718T>G | CA361709868 | SLC26A2 | c.2125T>G (p.Phe709Val) c.372+3367T>G (n.372+3367T>G) | |
| 5 | g.149981718T= | CA1590738914 | SLC26A2 | c.2125T= (p.Phe709=) c.372+3367T= (n.372+3367T=) | |
| 5 | g.149981718_149981719del | CA563955746 | SLC26A2 | c.2125_2126del (p.Phe709LeufsTer2) c.372+3367_372+3368del (n.372+3367_372+3368del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981719T>A | CA361709869 | SLC26A2 | c.2126T>A (p.Phe709Tyr) c.372+3368T>A (n.372+3368T>A) | |
| 5 | g.149981719T>C | CA361709870 | SLC26A2 | c.2126T>C (p.Phe709Ser) c.372+3368T>C (n.372+3368T>C) | |
| 5 | g.149981719T>G | CA361709871 | SLC26A2 | c.2126T>G (p.Phe709Cys) c.372+3368T>G (n.372+3368T>G) | |
| 5 | g.149981720C>A | CA361709872 | SLC26A2 | c.2127C>A (p.Phe709Leu) c.372+3369C>A (n.372+3369C>A) | |
| 5 | g.149981720C= | CA1590738915 | SLC26A2 | c.2127C= (p.Phe709=) c.372+3369C= (n.372+3369C=) | |
| 5 | g.149981720C>G | CA361709873 | SLC26A2 | c.2127C>G (p.Phe709Leu) c.372+3369C>G (n.372+3369C>G) | |
| 5 | g.149981720C>T | CA447149450 | SLC26A2 | c.2127C>T (p.Phe709=) c.372+3369C>T (n.372+3369C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981721T>A | CA361709874 | SLC26A2 | c.2128T>A (p.Tyr710Asn) c.372+3370T>A (n.372+3370T>A) | |
| 5 | g.149981721T>C | CA361709876 | SLC26A2 | c.2128T>C (p.Tyr710His) c.372+3370T>C (n.372+3370T>C) | |
| 5 | g.149981721T>G | CA361709875 | SLC26A2 | c.2128T>G (p.Tyr710Asp) c.372+3370T>G (n.372+3370T>G) | |
| 5 | g.149981722A= | CA1590738916 | SLC26A2 | c.2129A= (p.Tyr710=) c.372+3371A= (n.372+3371A=) | |
| 5 | g.149981722A>C | CA361709877 | SLC26A2 | c.2129A>C (p.Tyr710Ser) c.372+3371A>C (n.372+3371A>C) | |
| 5 | g.149981722A>G | CA3505558 | SLC26A2 | c.2129A>G (p.Tyr710Cys) c.372+3371A>G (n.372+3371A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981722A>T | CA361709878 | SLC26A2 | c.2129A>T (p.Tyr710Phe) c.372+3371A>T (n.372+3371A>T) | |
| 5 | g.149981723T>A | CA361709879 | SLC26A2 | c.2130T>A (p.Tyr710Ter) c.372+3372T>A (n.372+3372T>A) | |
| 5 | g.149981723T>C | CA447149460 | SLC26A2 | c.2130T>C (p.Tyr710=) c.372+3372T>C (n.372+3372T>C) | ClinVar gnomAD v4 |
| 5 | g.149981723T>G | CA361709880 | SLC26A2 | c.2130T>G (p.Tyr710Ter) c.372+3372T>G (n.372+3372T>G) | |
| 5 | g.149981724A>C | CA361709881 | SLC26A2 | c.2131A>C (p.Ser711Arg) c.372+3373A>C (n.372+3373A>C) | |
| 5 | g.149981724A>G | CA361709882 | SLC26A2 | c.2131A>G (p.Ser711Gly) c.372+3373A>G (n.372+3373A>G) | |
| 5 | g.149981724A>T | CA361709883 | SLC26A2 | c.2131A>T (p.Ser711Cys) c.372+3373A>T (n.372+3373A>T) | |
| 5 | g.149981725G>A | CA361709884 | SLC26A2 | c.2132G>A (p.Ser711Asn) c.372+3374G>A (n.372+3374G>A) | |
| 5 | g.149981725G>C | CA361709885 | SLC26A2 | c.2132G>C (p.Ser711Thr) c.372+3374G>C (n.372+3374G>C) | |
| 5 | g.149981725G>T | CA361709886 | SLC26A2 | c.2132G>T (p.Ser711Ile) c.372+3374G>T (n.372+3374G>T) | |
| 5 | g.149981726T>A | CA361709887 | SLC26A2 | c.2133T>A (p.Ser711Arg) c.372+3375T>A (n.372+3375T>A) | |
| 5 | g.149981726T>C | CA447149480 | SLC26A2 | c.2133T>C (p.Ser711=) c.372+3375T>C (n.372+3375T>C) | COSMIC |
| 5 | g.149981726T>G | CA129084901 | SLC26A2 | c.2133T>G (p.Ser711Arg) c.372+3375T>G (n.372+3375T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981726T= | CA1590738917 | SLC26A2 | c.2133T= (p.Ser711=) c.372+3375T= (n.372+3375T=) | |
| 5 | g.149981727G>A | CA361709888 | SLC26A2 | c.2134G>A (p.Val712Met) c.372+3376G>A (n.372+3376G>A) | |
| 5 | g.149981727G>C | CA361709890 | SLC26A2 | c.2134G>C (p.Val712Leu) c.372+3376G>C (n.372+3376G>C) | |
| 5 | g.149981727G>T | CA361709889 | SLC26A2 | c.2134G>T (p.Val712Leu) c.372+3376G>T (n.372+3376G>T) | |
| 5 | g.149981728T>A | CA361709891 | SLC26A2 | c.2135T>A (p.Val712Glu) c.372+3377T>A (n.372+3377T>A) | |
| 5 | g.149981728T>C | CA361709892 | SLC26A2 | c.2135T>C (p.Val712Ala) c.372+3377T>C (n.372+3377T>C) | |
| 5 | g.149981728T>G | CA361709893 | SLC26A2 | c.2135T>G (p.Val712Gly) c.372+3377T>G (n.372+3377T>G) | |
| 5 | g.149981729G>A | CA447149490 | SLC26A2 | c.2136G>A (p.Val712=) c.372+3378G>A (n.372+3378G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981729G>C | CA447149491 | SLC26A2 | c.2136G>C (p.Val712=) c.372+3378G>C (n.372+3378G>C) | gnomAD v4 |
| 5 | g.149981729G= | CA1590738918 | SLC26A2 | c.2136G= (p.Val712=) c.372+3378G= (n.372+3378G=) | |
| 5 | g.149981729G>T | CA447149493 | SLC26A2 | c.2136G>T (p.Val712=) c.372+3378G>T (n.372+3378G>T) | |
| 5 | g.149981730T>A | CA361709894 | SLC26A2 | c.2137T>A (p.Tyr713Asn) c.372+3379T>A (n.372+3379T>A) | |
| 5 | g.149981730T>C | CA361709895 | SLC26A2 | c.2137T>C (p.Tyr713His) c.372+3379T>C (n.372+3379T>C) | |
| 5 | g.149981730T>G | CA361709896 | SLC26A2 | c.2137T>G (p.Tyr713Asp) c.372+3379T>G (n.372+3379T>G) | |
| 5 | g.149981731A>C | CA361709897 | SLC26A2 | c.2138A>C (p.Tyr713Ser) c.372+3380A>C (n.372+3380A>C) | |
| 5 | g.149981731A>G | CA361709898 | SLC26A2 | c.2138A>G (p.Tyr713Cys) c.372+3380A>G (n.372+3380A>G) | |
| 5 | g.149981731A>T | CA361709899 | SLC26A2 | c.2138A>T (p.Tyr713Phe) c.372+3380A>T (n.372+3380A>T) | |
| 5 | g.149981732T>A | CA361709900 | SLC26A2 | c.2139T>A (p.Tyr713Ter) c.372+3381T>A (n.372+3381T>A) | |
| 5 | g.149981732T>C | CA447149504 | SLC26A2 | c.2139T>C (p.Tyr713=) c.372+3381T>C (n.372+3381T>C) | |
| 5 | g.149981732T>G | CA129084905 | SLC26A2 | c.2139T>G (p.Tyr713Ter) c.372+3381T>G (n.372+3381T>G) | dbSNP |
| 5 | g.149981732T= | CA1590738919 | SLC26A2 | c.2139T= (p.Tyr713=) c.372+3381T= (n.372+3381T=) | |
| 5 | g.149981733G>A | CA361709903 | SLC26A2 | c.2140G>A (p.Glu714Lys) c.372+3382G>A (n.372+3382G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981733G>C | CA361709902 | SLC26A2 | c.2140G>C (p.Glu714Gln) c.372+3382G>C (n.372+3382G>C) | |
| 5 | g.149981733G= | CA1590738920 | SLC26A2 | c.2140G= (p.Glu714=) c.372+3382G= (n.372+3382G=) | |
| 5 | g.149981733G>T | CA361709901 | SLC26A2 | c.2140G>T (p.Glu714Ter) c.372+3382G>T (n.372+3382G>T) | |
| 5 | g.149981734A>C | CA361709905 | SLC26A2 | c.2141A>C (p.Glu714Ala) c.372+3383A>C (n.372+3383A>C) | |
| 5 | g.149981734A>G | CA361709904 | SLC26A2 | c.2141A>G (p.Glu714Gly) c.372+3383A>G (n.372+3383A>G) | |
| 5 | g.149981734A>T | CA361709906 | SLC26A2 | c.2141A>T (p.Glu714Val) c.372+3383A>T (n.372+3383A>T) | |
| 5 | g.149981735A>C | CA361709907 | SLC26A2 | c.2142A>C (p.Glu714Asp) c.372+3384A>C (n.372+3384A>C) | |
| 5 | g.149981735A>G | CA447149516 | SLC26A2 | c.2142A>G (p.Glu714=) c.372+3384A>G (n.372+3384A>G) | |
| 5 | g.149981735A>T | CA361709908 | SLC26A2 | c.2142A>T (p.Glu714Asp) c.372+3384A>T (n.372+3384A>T) | |
| 5 | g.149981736G>A | CA361709909 | SLC26A2 | c.2143G>A (p.Ala715Thr) c.372+3385G>A (n.372+3385G>A) | ClinVar dbSNP COSMIC |
| 5 | g.149981736G>C | CA3505559 | SLC26A2 | c.2143G>C (p.Ala715Pro) c.372+3385G>C (n.372+3385G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981736G= | CA1590738921 | SLC26A2 | c.2143G= (p.Ala715=) c.372+3385G= (n.372+3385G=) | |
| 5 | g.149981736G>T | CA361709910 | SLC26A2 | c.2143G>T (p.Ala715Ser) c.372+3385G>T (n.372+3385G>T) | |
| 5 | g.149981737C>A | CA361709911 | SLC26A2 | c.2144C>A (p.Ala715Glu) c.372+3386C>A (n.372+3386C>A) | dbSNP |
| 5 | g.149981737C= | CA1590738922 | SLC26A2 | c.2144C= (p.Ala715=) c.372+3386C= (n.372+3386C=) | |
| 5 | g.149981737C>G | CA361709912 | SLC26A2 | c.2144C>G (p.Ala715Gly) c.372+3386C>G (n.372+3386C>G) | |
| 5 | g.149981737C>T | CA252994 | SLC26A2 | c.2144C>T (p.Ala715Val) c.372+3386C>T (n.372+3386C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981738G>A | CA10619660 | SLC26A2 | c.2145G>A (p.Ala715=) c.372+3387G>A (n.372+3387G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981738G>C | CA447149530 | SLC26A2 | c.2145G>C (p.Ala715=) c.372+3387G>C (n.372+3387G>C) | |
| 5 | g.149981738G= | CA1590738923 | SLC26A2 | c.2145G= (p.Ala715=) c.372+3387G= (n.372+3387G=) | |
| 5 | g.149981738G>T | CA447149534 | SLC26A2 | c.2145G>T (p.Ala715=) c.372+3387G>T (n.372+3387G>T) | |
| 5 | g.149981739A= | CA1590738924 | SLC26A2 | c.2146A= (p.Met716=) c.372+3388A= (n.372+3388A=) | |
| 5 | g.149981739A>C | CA361709913 | SLC26A2 | c.2146A>C (p.Met716Leu) c.372+3388A>C (n.372+3388A>C) | |
| 5 | g.149981739A>G | CA3505560 | SLC26A2 | c.2146A>G (p.Met716Val) c.372+3388A>G (n.372+3388A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981739A>T | CA361709914 | SLC26A2 | c.2146A>T (p.Met716Leu) c.372+3388A>T (n.372+3388A>T) | |
| 5 | g.149981740T>A | CA361709916 | SLC26A2 | c.2147T>A (p.Met716Lys) c.372+3389T>A (n.372+3389T>A) | dbSNP |
| 5 | g.149981740T>C | CA3505561 | SLC26A2 | c.2147T>C (p.Met716Thr) c.372+3389T>C (n.372+3389T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981740T>G | CA361709915 | SLC26A2 | c.2147T>G (p.Met716Arg) c.372+3389T>G (n.372+3389T>G) | |
| 5 | g.149981740T= | CA1590738925 | SLC26A2 | c.2147T= (p.Met716=) c.372+3389T= (n.372+3389T=) | |
| 5 | g.149981741G>A | CA361709917 | SLC26A2 | c.2148G>A (p.Met716Ile) c.372+3390G>A (n.372+3390G>A) | |
| 5 | g.149981741G>C | CA361709918 | SLC26A2 | c.2148G>C (p.Met716Ile) c.372+3390G>C (n.372+3390G>C) | |
| 5 | g.149981741G>T | CA361709919 | SLC26A2 | c.2148G>T (p.Met716Ile) c.372+3390G>T (n.372+3390G>T) | |
| 5 | g.149981742G>A | CA361709920 | SLC26A2 | c.2149G>A (p.Ala717Thr) c.372+3391G>A (n.372+3391G>A) | |
| 5 | g.149981742G>C | CA361709921 | SLC26A2 | c.2149G>C (p.Ala717Pro) c.372+3391G>C (n.372+3391G>C) | |
| 5 | g.149981742G>T | CA361709922 | SLC26A2 | c.2149G>T (p.Ala717Ser) c.372+3391G>T (n.372+3391G>T) | |
| 5 | g.149981743C>A | CA361709923 | SLC26A2 | c.2150C>A (p.Ala717Asp) c.372+3392C>A (n.372+3392C>A) | |
| 5 | g.149981743C>G | CA361709924 | SLC26A2 | c.2150C>G (p.Ala717Gly) c.372+3392C>G (n.372+3392C>G) | |
| 5 | g.149981743C>T | CA361709925 | SLC26A2 | c.2150C>T (p.Ala717Val) c.372+3392C>T (n.372+3392C>T) | |
| 5 | g.149981744T>A | CA447149551 | SLC26A2 | c.2151T>A (p.Ala717=) c.372+3393T>A (n.372+3393T>A) | |
| 5 | g.149981744T>C | CA447149554 | SLC26A2 | c.2151T>C (p.Ala717=) c.372+3393T>C (n.372+3393T>C) | |
| 5 | g.149981744T>G | CA447149555 | SLC26A2 | c.2151T>G (p.Ala717=) c.372+3393T>G (n.372+3393T>G) | |
| 5 | g.149981745T>A | CA361709926 | SLC26A2 | c.2152T>A (p.Phe718Ile) c.372+3394T>A (n.372+3394T>A) | |
| 5 | g.149981745T>C | CA361709927 | SLC26A2 | c.2152T>C (p.Phe718Leu) c.372+3394T>C (n.372+3394T>C) | dbSNP |
| 5 | g.149981745T>G | CA361709928 | SLC26A2 | c.2152T>G (p.Phe718Val) c.372+3394T>G (n.372+3394T>G) | |
| 5 | g.149981745T= | CA1590738926 | SLC26A2 | c.2152T= (p.Phe718=) c.372+3394T= (n.372+3394T=) | |
| 5 | g.149981746T>A | CA361709931 | SLC26A2 | c.2153T>A (p.Phe718Tyr) c.372+3395T>A (n.372+3395T>A) | |
| 5 | g.149981746T>C | CA361709930 | SLC26A2 | c.2153T>C (p.Phe718Ser) c.372+3395T>C (n.372+3395T>C) | |
| 5 | g.149981746T>G | CA361709929 | SLC26A2 | c.2153T>G (p.Phe718Cys) c.372+3395T>G (n.372+3395T>G) | |
| 5 | g.149981747T>A | CA361709932 | SLC26A2 | c.2154T>A (p.Phe718Leu) c.372+3396T>A (n.372+3396T>A) | |
| 5 | g.149981747T>C | CA447149566 | SLC26A2 | c.2154T>C (p.Phe718=) c.372+3396T>C (n.372+3396T>C) | |
| 5 | g.149981747T>G | CA361709933 | SLC26A2 | c.2154T>G (p.Phe718Leu) c.372+3396T>G (n.372+3396T>G) | |
| 5 | g.149981748del | CA2695205564 | SLC26A2 | c.2155del (p.Ala719GlnfsTer16) c.372+3397del (n.372+3397del) | |
| 5 | g.149981748G>A | CA361709934 | SLC26A2 | c.2155G>A (p.Ala719Thr) c.372+3397G>A (n.372+3397G>A) | |
| 5 | g.149981748G>C | CA361709935 | SLC26A2 | c.2155G>C (p.Ala719Pro) c.372+3397G>C (n.372+3397G>C) | |
| 5 | g.149981748G>T | CA361709936 | SLC26A2 | c.2155G>T (p.Ala719Ser) c.372+3397G>T (n.372+3397G>T) | |
| 5 | g.149981749C>A | CA361709939 | SLC26A2 | c.2156C>A (p.Ala719Glu) c.372+3398C>A (n.372+3398C>A) | |
| 5 | g.149981749C>G | CA361709938 | SLC26A2 | c.2156C>G (p.Ala719Gly) c.372+3398C>G (n.372+3398C>G) | |
| 5 | g.149981749C>T | CA361709937 | SLC26A2 | c.2156C>T (p.Ala719Val) c.372+3398C>T (n.372+3398C>T) | |
| 5 | g.149981750A>C | CA447149577 | SLC26A2 | c.2157A>C (p.Ala719=) c.372+3399A>C (n.372+3399A>C) | |
| 5 | g.149981750A>G | CA447149579 | SLC26A2 | c.2157A>G (p.Ala719=) c.372+3399A>G (n.372+3399A>G) | |
| 5 | g.149981750A>T | CA447149581 | SLC26A2 | c.2157A>T (p.Ala719=) c.372+3399A>T (n.372+3399A>T) | |
| 5 | g.149981751G>A | CA3505562 | SLC26A2 | c.2158G>A (p.Glu720Lys) c.372+3400G>A (n.372+3400G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981751G>C | CA361709940 | SLC26A2 | c.2158G>C (p.Glu720Gln) c.372+3400G>C (n.372+3400G>C) | |
| 5 | g.149981751G= | CA1590738927 | SLC26A2 | c.2158G= (p.Glu720=) c.372+3400G= (n.372+3400G=) | |
| 5 | g.149981751G>T | CA361709941 | SLC26A2 | c.2158G>T (p.Glu720Ter) c.372+3400G>T (n.372+3400G>T) | |
| 5 | g.149981752A= | CA1590738928 | SLC26A2 | c.2159A= (p.Glu720=) c.372+3401A= (n.372+3401A=) | |
| 5 | g.149981752A>C | CA361709942 | SLC26A2 | c.2159A>C (p.Glu720Ala) c.372+3401A>C (n.372+3401A>C) | dbSNP |
| 5 | g.149981752A>G | CA361709943 | SLC26A2 | c.2159A>G (p.Glu720Gly) c.372+3401A>G (n.372+3401A>G) | |
| 5 | g.149981752A>T | CA361709944 | SLC26A2 | c.2159A>T (p.Glu720Val) c.372+3401A>T (n.372+3401A>T) | |
| 5 | g.149981753A= | CA1590738929 | SLC26A2 | c.2160A= (p.Glu720=) c.372+3402A= (n.372+3402A=) | |
| 5 | g.149981753A>C | CA361709945 | SLC26A2 | c.2160A>C (p.Glu720Asp) c.372+3402A>C (n.372+3402A>C) | gnomAD v4 |
| 5 | g.149981753A>G | CA3505563 | SLC26A2 | c.2160A>G (p.Glu720=) c.372+3402A>G (n.372+3402A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981753A>T | CA361709946 | SLC26A2 | c.2160A>T (p.Glu720Asp) c.372+3402A>T (n.372+3402A>T) | |
| 5 | g.149981754G>A | CA361709947 | SLC26A2 | c.2161G>A (p.Val721Ile) c.372+3403G>A (n.372+3403G>A) | COSMIC |
| 5 | g.149981754G>C | CA361709948 | SLC26A2 | c.2161G>C (p.Val721Leu) c.372+3403G>C (n.372+3403G>C) | |
| 5 | g.149981754G>T | CA361709949 | SLC26A2 | c.2161G>T (p.Val721Leu) c.372+3403G>T (n.372+3403G>T) | gnomAD v4 |
| 5 | g.149981755T>A | CA361709950 | SLC26A2 | c.2162T>A (p.Val721Glu) c.372+3404T>A (n.372+3404T>A) | |
| 5 | g.149981755T>C | CA361709951 | SLC26A2 | c.2162T>C (p.Val721Ala) c.372+3404T>C (n.372+3404T>C) | |
| 5 | g.149981755T>G | CA361709952 | SLC26A2 | c.2162T>G (p.Val721Gly) c.372+3404T>G (n.372+3404T>G) | |
| 5 | g.149981756A= | CA1590738930 | SLC26A2 | c.2163A= (p.Val721=) c.372+3405A= (n.372+3405A=) | |
| 5 | g.149981756A>C | CA447149592 | SLC26A2 | c.2163A>C (p.Val721=) c.372+3405A>C (n.372+3405A>C) | |
| 5 | g.149981756A>G | CA447149590 | SLC26A2 | c.2163A>G (p.Val721=) c.372+3405A>G (n.372+3405A>G) | dbSNP gnomAD v4 |
| 5 | g.149981756A>T | CA447149589 | SLC26A2 | c.2163A>T (p.Val721=) c.372+3405A>T (n.372+3405A>T) | |
| 5 | g.149981757T>A | CA361709953 | SLC26A2 | c.2164T>A (p.Ser722Thr) c.372+3406T>A (n.372+3406T>A) | |
| 5 | g.149981757T>C | CA3505564 | SLC26A2 | c.2164T>C (p.Ser722Pro) c.372+3406T>C (n.372+3406T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981757T>G | CA361709954 | SLC26A2 | c.2164T>G (p.Ser722Ala) c.372+3406T>G (n.372+3406T>G) | |
| 5 | g.149981757T= | CA1590738931 | SLC26A2 | c.2164T= (p.Ser722=) c.372+3406T= (n.372+3406T=) | |
| 5 | g.149981758C>A | CA361709955 | SLC26A2 | c.2165C>A (p.Ser722Tyr) c.372+3407C>A (n.372+3407C>A) | |
| 5 | g.149981758C>G | CA361709956 | SLC26A2 | c.2165C>G (p.Ser722Cys) c.372+3407C>G (n.372+3407C>G) | |
| 5 | g.149981758C>T | CA361709957 | SLC26A2 | c.2165C>T (p.Ser722Phe) c.372+3407C>T (n.372+3407C>T) | |
| 5 | g.149981759T>A | CA447149613 | SLC26A2 | c.2166T>A (p.Ser722=) c.372+3408T>A (n.372+3408T>A) | |
| 5 | g.149981759T>C | CA447149618 | SLC26A2 | c.2166T>C (p.Ser722=) c.372+3408T>C (n.372+3408T>C) | |
| 5 | g.149981759T>G | CA447149616 | SLC26A2 | c.2166T>G (p.Ser722=) c.372+3408T>G (n.372+3408T>G) | |
| 5 | g.149981760A>C | CA361709959 | SLC26A2 | c.2167A>C (p.Lys723Gln) c.372+3409A>C (n.372+3409A>C) | |
| 5 | g.149981760A>G | CA361709960 | SLC26A2 | c.2167A>G (p.Lys723Glu) c.372+3409A>G (n.372+3409A>G) | |
| 5 | g.149981760A>T | CA361709958 | SLC26A2 | c.2167A>T (p.Lys723Ter) c.372+3409A>T (n.372+3409A>T) | |
| 5 | g.149981761A= | CA1590738932 | SLC26A2 | c.2168A= (p.Lys723=) c.372+3410A= (n.372+3410A=) | |
| 5 | g.149981761A>C | CA361709961 | SLC26A2 | c.2168A>C (p.Lys723Thr) c.372+3410A>C (n.372+3410A>C) | dbSNP gnomAD v4 |
| 5 | g.149981761A>G | CA361709963 | SLC26A2 | c.2168A>G (p.Lys723Arg) c.372+3410A>G (n.372+3410A>G) | |
| 5 | g.149981761A>T | CA361709962 | SLC26A2 | c.2168A>T (p.Lys723Ile) c.372+3410A>T (n.372+3410A>T) | |
| 5 | g.149981762A>C | CA361709964 | SLC26A2 | c.2169A>C (p.Lys723Asn) c.372+3411A>C (n.372+3411A>C) | |
| 5 | g.149981762A>G | CA447149632 | SLC26A2 | c.2169A>G (p.Lys723=) c.372+3411A>G (n.372+3411A>G) | |
| 5 | g.149981762A>T | CA361709965 | SLC26A2 | c.2169A>T (p.Lys723Asn) c.372+3411A>T (n.372+3411A>T) | |
| 5 | g.149981763A>C | CA361709966 | SLC26A2 | c.2170A>C (p.Asn724His) c.372+3412A>C (n.372+3412A>C) | |
| 5 | g.149981763A>G | CA361709967 | SLC26A2 | c.2170A>G (p.Asn724Asp) c.372+3412A>G (n.372+3412A>G) | |
| 5 | g.149981763A>T | CA361709968 | SLC26A2 | c.2170A>T (p.Asn724Tyr) c.372+3412A>T (n.372+3412A>T) | |
| 5 | g.149981764A>C | CA361709969 | SLC26A2 | c.2171A>C (p.Asn724Thr) c.372+3413A>C (n.372+3413A>C) | |
| 5 | g.149981764A>G | CA361709970 | SLC26A2 | c.2171A>G (p.Asn724Ser) c.372+3413A>G (n.372+3413A>G) | |
| 5 | g.149981764A>T | CA361709971 | SLC26A2 | c.2171A>T (p.Asn724Ile) c.372+3413A>T (n.372+3413A>T) | |
| 5 | g.149981765T>A | CA361709972 | SLC26A2 | c.2172T>A (p.Asn724Lys) c.372+3414T>A (n.372+3414T>A) | |
| 5 | g.149981765T>C | CA447149642 | SLC26A2 | c.2172T>C (p.Asn724=) c.372+3414T>C (n.372+3414T>C) | |
| 5 | g.149981765T>G | CA361709973 | SLC26A2 | c.2172T>G (p.Asn724Lys) c.372+3414T>G (n.372+3414T>G) | |
| 5 | g.149981766C>A | CA361709974 | SLC26A2 | c.2173C>A (p.Gln725Lys) c.372+3415C>A (n.372+3415C>A) | |
| 5 | g.149981766C>G | CA361709975 | SLC26A2 | c.2173C>G (p.Gln725Glu) c.372+3415C>G (n.372+3415C>G) | |
| 5 | g.149981766C>T | CA361709976 | SLC26A2 | c.2173C>T (p.Gln725Ter) c.372+3415C>T (n.372+3415C>T) | gnomAD v4 |
| 5 | g.149981766_149981770delinsCAGAA | CA1590738933 | SLC26A2 | c.2173_2177delinsCAGAA (p.Gln725=) c.372+3415_372+3419delinsCAGAA (n.372+3415_372+3419delinsCAGAA) | |
| 5 | g.149981767A>C | CA361709979 | SLC26A2 | c.2174A>C (p.Gln725Pro) c.372+3416A>C (n.372+3416A>C) | |
| 5 | g.149981767A>G | CA361709977 | SLC26A2 | c.2174A>G (p.Gln725Arg) c.372+3416A>G (n.372+3416A>G) | |
| 5 | g.149981767A>T | CA361709978 | SLC26A2 | c.2174A>T (p.Gln725Leu) c.372+3416A>T (n.372+3416A>T) | |
| 5 | g.149981769_149981772del | CA1590738934 | SLC26A2 | c.2176_2179del (p.Lys726GlufsTer8) c.372+3418_372+3421del (n.372+3418_372+3421del) | dbSNP gnomAD v4 |
| 5 | g.149981768G>A | CA447149655 | SLC26A2 | c.2175G>A (p.Gln725=) c.372+3417G>A (n.372+3417G>A) | |
| 5 | g.149981768G>C | CA361709980 | SLC26A2 | c.2175G>C (p.Gln725His) c.372+3417G>C (n.372+3417G>C) | |
| 5 | g.149981768G>T | CA361709981 | SLC26A2 | c.2175G>T (p.Gln725His) c.372+3417G>T (n.372+3417G>T) | |
| 5 | g.149981769A>C | CA361709982 | SLC26A2 | c.2176A>C (p.Lys726Gln) c.372+3418A>C (n.372+3418A>C) | |
| 5 | g.149981769A>G | CA361709983 | SLC26A2 | c.2176A>G (p.Lys726Glu) c.372+3418A>G (n.372+3418A>G) | gnomAD v4 |
| 5 | g.149981769A>T | CA361709984 | SLC26A2 | c.2176A>T (p.Lys726Ter) c.372+3418A>T (n.372+3418A>T) | |
| 5 | g.149981770A>C | CA361709985 | SLC26A2 | c.2177A>C (p.Lys726Thr) c.372+3419A>C (n.372+3419A>C) | |
| 5 | g.149981770A>G | CA361709986 | SLC26A2 | c.2177A>G (p.Lys726Arg) c.372+3419A>G (n.372+3419A>G) | |
| 5 | g.149981770A>T | CA361709987 | SLC26A2 | c.2177A>T (p.Lys726Ile) c.372+3419A>T (n.372+3419A>T) | |
| 5 | g.149981771A>C | CA361709988 | SLC26A2 | c.2178A>C (p.Lys726Asn) c.372+3420A>C (n.372+3420A>C) | |
| 5 | g.149981771A>G | CA447149667 | SLC26A2 | c.2178A>G (p.Lys726=) c.372+3420A>G (n.372+3420A>G) | |
| 5 | g.149981771A>T | CA361709989 | SLC26A2 | c.2178A>T (p.Lys726Asn) c.372+3420A>T (n.372+3420A>T) | |
| 5 | g.149981772G>A | CA361709991 | SLC26A2 | c.2179G>A (p.Gly727Arg) c.372+3421G>A (n.372+3421G>A) | |
| 5 | g.149981772G>C | CA361709992 | SLC26A2 | c.2179G>C (p.Gly727Arg) c.372+3421G>C (n.372+3421G>C) | |
| 5 | g.149981772G>T | CA361709990 | SLC26A2 | c.2179G>T (p.Gly727Ter) c.372+3421G>T (n.372+3421G>T) | |
| 5 | g.149981773G>A | CA361709993 | SLC26A2 | c.2180G>A (p.Gly727Glu) c.372+3422G>A (n.372+3422G>A) | dbSNP |
| 5 | g.149981773G>C | CA361709994 | SLC26A2 | c.2180G>C (p.Gly727Ala) c.372+3422G>C (n.372+3422G>C) | |
| 5 | g.149981773G= | CA1590738935 | SLC26A2 | c.2180G= (p.Gly727=) c.372+3422G= (n.372+3422G=) | |
| 5 | g.149981773G>T | CA361709995 | SLC26A2 | c.2180G>T (p.Gly727Val) c.372+3422G>T (n.372+3422G>T) | |
| 5 | g.149981774A= | CA1590738936 | SLC26A2 | c.2181A= (p.Gly727=) c.372+3423A= (n.372+3423A=) | |
| 5 | g.149981774A>C | CA447149676 | SLC26A2 | c.2181A>C (p.Gly727=) c.372+3423A>C (n.372+3423A>C) | |
| 5 | g.149981774A>G | CA447149681 | SLC26A2 | c.2181A>G (p.Gly727=) c.372+3423A>G (n.372+3423A>G) | |
| 5 | g.149981774A>T | CA447149679 | SLC26A2 | c.2181A>T (p.Gly727=) c.372+3423A>T (n.372+3423A>T) | ClinVar dbSNP |
| 5 | g.149981775G>A | CA3505565 | SLC26A2 | c.2182G>A (p.Val728Ile) c.372+3424G>A (n.372+3424G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981775G>C | CA361709996 | SLC26A2 | c.2182G>C (p.Val728Leu) c.372+3424G>C (n.372+3424G>C) | |
| 5 | g.149981775G= | CA1590738937 | SLC26A2 | c.2182G= (p.Val728=) c.372+3424G= (n.372+3424G=) | |
| 5 | g.149981775G>T | CA361709997 | SLC26A2 | c.2182G>T (p.Val728Leu) c.372+3424G>T (n.372+3424G>T) | |
| 5 | g.149981776T>A | CA361709998 | SLC26A2 | c.2183T>A (p.Val728Glu) c.372+3425T>A (n.372+3425T>A) | |
| 5 | g.149981776T>C | CA3505566 | SLC26A2 | c.2183T>C (p.Val728Ala) c.372+3425T>C (n.372+3425T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981776T>G | CA361709999 | SLC26A2 | c.2183T>G (p.Val728Gly) c.372+3425T>G (n.372+3425T>G) | |
| 5 | g.149981776T= | CA1590738938 | SLC26A2 | c.2183T= (p.Val728=) c.372+3425T= (n.372+3425T=) | |
| 5 | g.149981777_149981778del | CA2578449469 | SLC26A2 | c.2184_2185del (p.Val730SerfsTer7) c.372+3426_372+3427del (n.372+3426_372+3427del) | |
| 5 | g.149981777A= | CA1590738939 | SLC26A2 | c.2184A= (p.Val728=) c.372+3426A= (n.372+3426A=) | |
| 5 | g.149981777A>C | CA447149689 | SLC26A2 | c.2184A>C (p.Val728=) c.372+3426A>C (n.372+3426A>C) | |
| 5 | g.149981777A>G | CA3505567 | SLC26A2 | c.2184A>G (p.Val728=) c.372+3426A>G (n.372+3426A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981777A>T | CA447149691 | SLC26A2 | c.2184A>T (p.Val728=) c.372+3426A>T (n.372+3426A>T) | |
| 5 | g.149981778T>A | CA361710000 | SLC26A2 | c.2185T>A (p.Cys729Ser) c.372+3427T>A (n.372+3427T>A) | |
| 5 | g.149981778T>C | CA361710001 | SLC26A2 | c.2185T>C (p.Cys729Arg) c.372+3427T>C (n.372+3427T>C) | |
| 5 | g.149981778T>G | CA361710002 | SLC26A2 | c.2185T>G (p.Cys729Gly) c.372+3427T>G (n.372+3427T>G) | |
| 5 | g.149981779G>A | CA361710003 | SLC26A2 | c.2186G>A (p.Cys729Tyr) c.372+3428G>A (n.372+3428G>A) | |
| 5 | g.149981779G>C | CA361710005 | SLC26A2 | c.2186G>C (p.Cys729Ser) c.372+3428G>C (n.372+3428G>C) | |
| 5 | g.149981779G>T | CA361710004 | SLC26A2 | c.2186G>T (p.Cys729Phe) c.372+3428G>T (n.372+3428G>T) | |
| 5 | g.149981780T>A | CA361710006 | SLC26A2 | c.2187T>A (p.Cys729Ter) c.372+3429T>A (n.372+3429T>A) | |
| 5 | g.149981780T>C | CA447149708 | SLC26A2 | c.2187T>C (p.Cys729=) c.372+3429T>C (n.372+3429T>C) | dbSNP |
| 5 | g.149981780T>G | CA361710007 | SLC26A2 | c.2187T>G (p.Cys729Trp) c.372+3429T>G (n.372+3429T>G) | |
| 5 | g.149981780T= | CA1590738940 | SLC26A2 | c.2187T= (p.Cys729=) c.372+3429T= (n.372+3429T=) | |
| 5 | g.149981781G>A | CA129084925 | SLC26A2 | c.2188G>A (p.Val730Ile) c.372+3430G>A (n.372+3430G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981781G>C | CA361710008 | SLC26A2 | c.2188G>C (p.Val730Leu) c.372+3430G>C (n.372+3430G>C) | |
| 5 | g.149981781G= | CA1590738941 | SLC26A2 | c.2188G= (p.Val730=) c.372+3430G= (n.372+3430G=) | |
| 5 | g.149981781G>T | CA361710009 | SLC26A2 | c.2188G>T (p.Val730Phe) c.372+3430G>T (n.372+3430G>T) | |
| 5 | g.149981782T>A | CA361710010 | SLC26A2 | c.2189T>A (p.Val730Asp) c.372+3431T>A (n.372+3431T>A) | |
| 5 | g.149981782T>C | CA361710011 | SLC26A2 | c.2189T>C (p.Val730Ala) c.372+3431T>C (n.372+3431T>C) | |
| 5 | g.149981782T>G | CA361710012 | SLC26A2 | c.2189T>G (p.Val730Gly) c.372+3431T>G (n.372+3431T>G) | |
| 5 | g.149981783T>A | CA447149716 | SLC26A2 | c.2190T>A (p.Val730=) c.372+3432T>A (n.372+3432T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981783T>C | CA447149718 | SLC26A2 | c.2190T>C (p.Val730=) c.372+3432T>C (n.372+3432T>C) | |
| 5 | g.149981783T>G | CA447149720 | SLC26A2 | c.2190T>G (p.Val730=) c.372+3432T>G (n.372+3432T>G) | |
| 5 | g.149981783T= | CA1590738942 | SLC26A2 | c.2190T= (p.Val730=) c.372+3432T= (n.372+3432T=) | |
| 5 | g.149981784C>A | CA361710013 | SLC26A2 | c.2191C>A (p.Pro731Thr) c.372+3433C>A (n.372+3433C>A) | |
| 5 | g.149981784C>G | CA361710014 | SLC26A2 | c.2191C>G (p.Pro731Ala) c.372+3433C>G (n.372+3433C>G) | |
| 5 | g.149981784C>T | CA361710015 | SLC26A2 | c.2191C>T (p.Pro731Ser) c.372+3433C>T (n.372+3433C>T) | gnomAD v4 |
| 5 | g.149981786dup | CA129084926 | SLC26A2 | c.2193dup (p.Asn732GlnfsTer6) c.372+3435dup (n.372+3435dup) | dbSNP |
| 5 | g.149981785C>A | CA361710017 | SLC26A2 | c.2192C>A (p.Pro731His) c.372+3434C>A (n.372+3434C>A) | |
| 5 | g.149981785C>G | CA361710018 | SLC26A2 | c.2192C>G (p.Pro731Arg) c.372+3434C>G (n.372+3434C>G) | |
| 5 | g.149981785C>T | CA361710016 | SLC26A2 | c.2192C>T (p.Pro731Leu) c.372+3434C>T (n.372+3434C>T) | |
| 5 | g.149981786C>A | CA447149727 | SLC26A2 | c.2193C>A (p.Pro731=) c.372+3435C>A (n.372+3435C>A) | |
| 5 | g.149981786C>G | CA447149729 | SLC26A2 | c.2193C>G (p.Pro731=) c.372+3435C>G (n.372+3435C>G) | |
| 5 | g.149981786C>T | CA447149731 | SLC26A2 | c.2193C>T (p.Pro731=) c.372+3435C>T (n.372+3435C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981787A>C | CA361710019 | SLC26A2 | c.2194A>C (p.Asn732His) c.372+3436A>C (n.372+3436A>C) | |
| 5 | g.149981787A>G | CA361710020 | SLC26A2 | c.2194A>G (p.Asn732Asp) c.372+3436A>G (n.372+3436A>G) | |
| 5 | g.149981787A>T | CA361710021 | SLC26A2 | c.2194A>T (p.Asn732Tyr) c.372+3436A>T (n.372+3436A>T) | |
| 5 | g.149981788A= | CA1590738943 | SLC26A2 | c.2195A= (p.Asn732=) c.372+3437A= (n.372+3437A=) | |
| 5 | g.149981788A>C | CA361710022 | SLC26A2 | c.2195A>C (p.Asn732Thr) c.372+3437A>C (n.372+3437A>C) | |
| 5 | g.149981788A>G | CA3505568 | SLC26A2 | c.2195A>G (p.Asn732Ser) c.372+3437A>G (n.372+3437A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981788A>T | CA361710023 | SLC26A2 | c.2195A>T (p.Asn732Ile) c.372+3437A>T (n.372+3437A>T) | |
| 5 | g.149981789T>A | CA361710024 | SLC26A2 | c.2196T>A (p.Asn732Lys) c.372+3438T>A (n.372+3438T>A) | |
| 5 | g.149981789T>C | CA447149739 | SLC26A2 | c.2196T>C (p.Asn732=) c.372+3438T>C (n.372+3438T>C) | |
| 5 | g.149981789T>G | CA361710025 | SLC26A2 | c.2196T>G (p.Asn732Lys) c.372+3438T>G (n.372+3438T>G) | |
| 5 | g.149981790G>A | CA361710026 | SLC26A2 | c.2197G>A (p.Gly733Ser) c.372+3439G>A (n.372+3439G>A) | |
| 5 | g.149981790G>C | CA361710027 | SLC26A2 | c.2197G>C (p.Gly733Arg) c.372+3439G>C (n.372+3439G>C) | |
| 5 | g.149981790G>T | CA361710028 | SLC26A2 | c.2197G>T (p.Gly733Cys) c.372+3439G>T (n.372+3439G>T) | |
| 5 | g.149981791G>A | CA361710029 | SLC26A2 | c.2198G>A (p.Gly733Asp) c.372+3440G>A (n.372+3440G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981791G>C | CA361710030 | SLC26A2 | c.2198G>C (p.Gly733Ala) c.372+3440G>C (n.372+3440G>C) | |
| 5 | g.149981791G= | CA1590738944 | SLC26A2 | c.2198G= (p.Gly733=) c.372+3440G= (n.372+3440G=) | |
| 5 | g.149981791G>T | CA361710031 | SLC26A2 | c.2198G>T (p.Gly733Val) c.372+3440G>T (n.372+3440G>T) | dbSNP |
| 5 | g.149981792T>A | CA447149750 | SLC26A2 | c.2199T>A (p.Gly733=) c.372+3441T>A (n.372+3441T>A) | |
| 5 | g.149981792T>C | CA447149751 | SLC26A2 | c.2199T>C (p.Gly733=) c.372+3441T>C (n.372+3441T>C) | |
| 5 | g.149981792T>G | CA447149753 | SLC26A2 | c.2199T>G (p.Gly733=) c.372+3441T>G (n.372+3441T>G) | |
| 5 | g.149981793C>A | CA361710033 | SLC26A2 | c.2200C>A (p.Leu734Met) c.372+3442C>A (n.372+3442C>A) | gnomAD v4 |
| 5 | g.149981793C>G | CA361710032 | SLC26A2 | c.2200C>G (p.Leu734Val) c.372+3442C>G (n.372+3442C>G) | |
| 5 | g.149981793C>T | CA447149758 | SLC26A2 | c.2200C>T (p.Leu734=) c.372+3442C>T (n.372+3442C>T) | |
| 5 | g.149981794T>A | CA361710034 | SLC26A2 | c.2201T>A (p.Leu734Gln) c.372+3443T>A (n.372+3443T>A) | |
| 5 | g.149981794T>C | CA361710035 | SLC26A2 | c.2201T>C (p.Leu734Pro) c.372+3443T>C (n.372+3443T>C) | |
| 5 | g.149981794T>G | CA361710036 | SLC26A2 | c.2201T>G (p.Leu734Arg) c.372+3443T>G (n.372+3443T>G) | |
| 5 | g.149981795G>A | CA447149767 | SLC26A2 | c.2202G>A (p.Leu734=) c.372+3444G>A (n.372+3444G>A) | |
| 5 | g.149981795G>C | CA447149763 | SLC26A2 | c.2202G>C (p.Leu734=) c.372+3444G>C (n.372+3444G>C) | |
| 5 | g.149981795G>T | CA447149765 | SLC26A2 | c.2202G>T (p.Leu734=) c.372+3444G>T (n.372+3444G>T) | |
| 5 | g.149981796A= | CA1590738945 | SLC26A2 | c.2203A= (p.Ser735=) c.372+3445A= (n.372+3445A=) | |
| 5 | g.149981796A>C | CA129084928 | SLC26A2 | c.2203A>C (p.Ser735Arg) c.372+3445A>C (n.372+3445A>C) | dbSNP |
| 5 | g.149981796A>G | CA361710037 | SLC26A2 | c.2203A>G (p.Ser735Gly) c.372+3445A>G (n.372+3445A>G) | |
| 5 | g.149981796A>T | CA361710038 | SLC26A2 | c.2203A>T (p.Ser735Cys) c.372+3445A>T (n.372+3445A>T) | dbSNP |
| 5 | g.149981797G>A | CA361710041 | SLC26A2 | c.2204G>A (p.Ser735Asn) c.372+3446G>A (n.372+3446G>A) | dbSNP |
| 5 | g.149981797G>C | CA361710039 | SLC26A2 | c.2204G>C (p.Ser735Thr) c.372+3446G>C (n.372+3446G>C) | |
| 5 | g.149981797G>T | CA361710040 | SLC26A2 | c.2204G>T (p.Ser735Ile) c.372+3446G>T (n.372+3446G>T) | |
| 5 | g.149981798T>A | CA361710042 | SLC26A2 | c.2205T>A (p.Ser735Arg) c.372+3447T>A (n.372+3447T>A) | |
| 5 | g.149981798T>C | CA447149775 | SLC26A2 | c.2205T>C (p.Ser735=) c.372+3447T>C (n.372+3447T>C) | gnomAD v4 |
| 5 | g.149981798T>G | CA361710043 | SLC26A2 | c.2205T>G (p.Ser735Arg) c.372+3447T>G (n.372+3447T>G) | |
| 5 | g.149981799C>A | CA361710044 | SLC26A2 | c.2206C>A (p.Leu736Ile) c.372+3448C>A (n.372+3448C>A) | gnomAD v4 COSMIC |
| 5 | g.149981799C>G | CA361710045 | SLC26A2 | c.2206C>G (p.Leu736Val) c.372+3448C>G (n.372+3448C>G) | |
| 5 | g.149981799C>T | CA361710046 | SLC26A2 | c.2206C>T (p.Leu736Phe) c.372+3448C>T (n.372+3448C>T) | |
| 5 | g.149981800T>A | CA361710047 | SLC26A2 | c.2207T>A (p.Leu736His) c.372+3449T>A (n.372+3449T>A) | |
| 5 | g.149981800T>C | CA361710049 | SLC26A2 | c.2207T>C (p.Leu736Pro) c.372+3449T>C (n.372+3449T>C) | |
| 5 | g.149981800T>G | CA361710048 | SLC26A2 | c.2207T>G (p.Leu736Arg) c.372+3449T>G (n.372+3449T>G) | |
| 5 | g.149981801T>A | CA447149784 | SLC26A2 | c.2208T>A (p.Leu736=) c.372+3450T>A (n.372+3450T>A) | |
| 5 | g.149981801T>C | CA447149786 | SLC26A2 | c.2208T>C (p.Leu736=) c.372+3450T>C (n.372+3450T>C) | |
| 5 | g.149981801T>G | CA447149788 | SLC26A2 | c.2208T>G (p.Leu736=) c.372+3450T>G (n.372+3450T>G) | |
| 5 | g.149981802A>C | CA361710050 | SLC26A2 | c.2209A>C (p.Ser737Arg) c.372+3451A>C (n.372+3451A>C) | |
| 5 | g.149981802A>G | CA361710051 | SLC26A2 | c.2209A>G (p.Ser737Gly) c.372+3451A>G (n.372+3451A>G) | |
| 5 | g.149981802A>T | CA361710052 | SLC26A2 | c.2209A>T (p.Ser737Cys) c.372+3451A>T (n.372+3451A>T) |