Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
5 | g.149978083C>A | CA361704975 | SLC26A2 | n.663C>A c.431C>A (p.Ser144Tyr) c.104C>A (p.Ser35Tyr) | ClinVar dbSNP gnomAD v2 |
5 | g.149978083C= | CA1590737398 | SLC26A2 | n.663C= c.431C= (p.Ser144=) c.104C= (p.Ser35=) | |
5 | g.149978083C>G | CA361704977 | SLC26A2 | n.663C>G c.431C>G (p.Ser144Cys) c.104C>G (p.Ser35Cys) | |
5 | g.149978083C>T | CA361704976 | SLC26A2 | n.663C>T c.431C>T (p.Ser144Phe) c.104C>T (p.Ser35Phe) | |
5 | g.149978083_149978084delinsCT | CA1590737397 | SLC26A2 | n.663_664delinsCT c.431_432delinsCT (p.Ser144=) c.104_105delinsCT (p.Ser35=) | |
5 | g.149978084T>A | CA447401985 | SLC26A2 | n.664T>A c.432T>A (p.Ser144=) c.105T>A (p.Ser35=) | |
5 | g.149978084T>C | CA447401986 | SLC26A2 | n.664T>C c.432T>C (p.Ser144=) c.105T>C (p.Ser35=) | |
5 | g.149978084T>G | CA447401987 | SLC26A2 | n.664T>G c.432T>G (p.Ser144=) c.105T>G (p.Ser35=) | |
5 | g.149978090dup | CA3505247 | SLC26A2 | n.670dup c.438dup (p.Ala147CysfsTer28) c.111dup (p.Ala38CysfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978090del | CA447401988 | SLC26A2 | n.670del c.438del (p.Phe146LeufsTer26) c.111del (p.Phe37LeufsTer26) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.149978085T>A | CA361704979 | SLC26A2 | n.665T>A c.433T>A (p.Phe145Ile) c.106T>A (p.Phe36Ile) | |
5 | g.149978085T>C | CA361704978 | SLC26A2 | n.665T>C c.433T>C (p.Phe145Leu) c.106T>C (p.Phe36Leu) | |
5 | g.149978085T>G | CA361704980 | SLC26A2 | n.665T>G c.433T>G (p.Phe145Val) c.106T>G (p.Phe36Val) | |
5 | g.149978086T>A | CA361704981 | SLC26A2 | n.666T>A c.434T>A (p.Phe145Tyr) c.107T>A (p.Phe36Tyr) | |
5 | g.149978086T>C | CA361704982 | SLC26A2 | n.666T>C c.434T>C (p.Phe145Ser) c.107T>C (p.Phe36Ser) | |
5 | g.149978086T>G | CA361704983 | SLC26A2 | n.666T>G c.434T>G (p.Phe145Cys) c.107T>G (p.Phe36Cys) | |
5 | g.149978087T>A | CA361704984 | SLC26A2 | n.667T>A c.435T>A (p.Phe145Leu) c.108T>A (p.Phe36Leu) | |
5 | g.149978087T>C | CA447401989 | SLC26A2 | n.667T>C c.435T>C (p.Phe145=) c.108T>C (p.Phe36=) | |
5 | g.149978087T>G | CA361704985 | SLC26A2 | n.667T>G c.435T>G (p.Phe145Leu) c.108T>G (p.Phe36Leu) | |
5 | g.149978088T>A | CA361704986 | SLC26A2 | n.668T>A c.436T>A (p.Phe146Ile) c.109T>A (p.Phe37Ile) | |
5 | g.149978088T>C | CA361704987 | SLC26A2 | n.668T>C c.436T>C (p.Phe146Leu) c.109T>C (p.Phe37Leu) | |
5 | g.149978088T>G | CA361704988 | SLC26A2 | n.668T>G c.436T>G (p.Phe146Val) c.109T>G (p.Phe37Val) | |
5 | g.149978089T>A | CA361704989 | SLC26A2 | n.669T>A c.437T>A (p.Phe146Tyr) c.110T>A (p.Phe37Tyr) | |
5 | g.149978089T>C | CA361704990 | SLC26A2 | n.669T>C c.437T>C (p.Phe146Ser) c.110T>C (p.Phe37Ser) | |
5 | g.149978089T>G | CA361704991 | SLC26A2 | n.669T>G c.437T>G (p.Phe146Cys) c.110T>G (p.Phe37Cys) | |
5 | g.149978090T>A | CA361704993 | SLC26A2 | n.670T>A c.438T>A (p.Phe146Leu) c.111T>A (p.Phe37Leu) | |
5 | g.149978090T>C | CA447401990 | SLC26A2 | n.670T>C c.438T>C (p.Phe146=) c.111T>C (p.Phe37=) | |
5 | g.149978090T>G | CA361704992 | SLC26A2 | n.670T>G c.438T>G (p.Phe146Leu) c.111T>G (p.Phe37Leu) | |
5 | g.149978090_149978100delinsTGCCAGCATCA | CA1590737399 | SLC26A2 | n.670_680delinsTGCCAGCATCA c.438_448delinsTGCCAGCATCA (p.Phe146=) c.111_121delinsTGCCAGCATCA (p.Phe37=) | |
5 | g.149978091G>A | CA361704994 | SLC26A2 | n.671G>A c.439G>A (p.Ala147Thr) c.112G>A (p.Ala38Thr) | |
5 | g.149978091G>C | CA361704995 | SLC26A2 | n.671G>C c.439G>C (p.Ala147Pro) c.112G>C (p.Ala38Pro) | |
5 | g.149978091G= | CA1590737400 | SLC26A2 | n.671G= c.439G= (p.Ala147=) c.112G= (p.Ala38=) | |
5 | g.149978091G>T | CA3505248 | SLC26A2 | n.671G>T c.439G>T (p.Ala147Ser) c.112G>T (p.Ala38Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978091_149978100del | CA563955678 | SLC26A2 | n.671_680del c.439_448del (p.Ala147PhefsTer22) c.112_121del (p.Ala38PhefsTer22) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978092C>A | CA361704996 | SLC26A2 | n.672C>A c.440C>A (p.Ala147Asp) c.113C>A (p.Ala38Asp) | |
5 | g.149978092C>G | CA361704997 | SLC26A2 | n.672C>G c.440C>G (p.Ala147Gly) c.113C>G (p.Ala38Gly) | |
5 | g.149978092C>T | CA361704998 | SLC26A2 | n.672C>T c.440C>T (p.Ala147Val) c.113C>T (p.Ala38Val) | gnomAD v4 |
5 | g.149978093del | CA2578449447 | SLC26A2 | n.673del c.441del (p.Ser148AlafsTer24) c.114del (p.Ser39AlafsTer24) | |
5 | g.149978093C>A | CA447401991 | SLC26A2 | n.673C>A c.441C>A (p.Ala147=) c.114C>A (p.Ala38=) | |
5 | g.149978093C>G | CA447401992 | SLC26A2 | n.673C>G c.441C>G (p.Ala147=) c.114C>G (p.Ala38=) | ClinVar |
5 | g.149978093C>T | CA447401993 | SLC26A2 | n.673C>T c.441C>T (p.Ala147=) c.114C>T (p.Ala38=) | |
5 | g.149978094A>C | CA361704999 | SLC26A2 | n.674A>C c.442A>C (p.Ser148Arg) c.115A>C (p.Ser39Arg) | |
5 | g.149978094A>G | CA361705000 | SLC26A2 | n.674A>G c.442A>G (p.Ser148Gly) c.115A>G (p.Ser39Gly) | gnomAD v4 |
5 | g.149978094A>T | CA361705001 | SLC26A2 | n.674A>T c.442A>T (p.Ser148Cys) c.115A>T (p.Ser39Cys) | |
5 | g.149978095G>A | CA361705002 | SLC26A2 | n.675G>A c.443G>A (p.Ser148Asn) c.116G>A (p.Ser39Asn) | |
5 | g.149978095G>C | CA361705003 | SLC26A2 | n.675G>C c.443G>C (p.Ser148Thr) c.116G>C (p.Ser39Thr) | dbSNP |
5 | g.149978095G= | CA1590737401 | SLC26A2 | n.675G= c.443G= (p.Ser148=) c.116G= (p.Ser39=) | |
5 | g.149978095G>T | CA361705004 | SLC26A2 | n.675G>T c.443G>T (p.Ser148Ile) c.116G>T (p.Ser39Ile) | gnomAD v4 |
5 | g.149978096C>A | CA361705006 | SLC26A2 | n.676C>A c.444C>A (p.Ser148Arg) c.117C>A (p.Ser39Arg) | |
5 | g.149978096C>G | CA361705005 | SLC26A2 | n.676C>G c.444C>G (p.Ser148Arg) c.117C>G (p.Ser39Arg) | |
5 | g.149978096C>T | CA447401994 | SLC26A2 | n.676C>T c.444C>T (p.Ser148=) c.117C>T (p.Ser39=) | |
5 | g.149978097A>C | CA361705007 | SLC26A2 | n.677A>C c.445A>C (p.Ile149Leu) c.118A>C (p.Ile40Leu) | |
5 | g.149978097A>G | CA361705008 | SLC26A2 | n.677A>G c.445A>G (p.Ile149Val) c.118A>G (p.Ile40Val) | |
5 | g.149978097A>T | CA361705009 | SLC26A2 | n.677A>T c.445A>T (p.Ile149Phe) c.118A>T (p.Ile40Phe) | |
5 | g.149978098T>A | CA361705010 | SLC26A2 | n.678T>A c.446T>A (p.Ile149Asn) c.119T>A (p.Ile40Asn) | |
5 | g.149978098T>C | CA361705011 | SLC26A2 | n.678T>C c.446T>C (p.Ile149Thr) c.119T>C (p.Ile40Thr) | dbSNP gnomAD v4 |
5 | g.149978098T>G | CA361705012 | SLC26A2 | n.678T>G c.446T>G (p.Ile149Ser) c.119T>G (p.Ile40Ser) | |
5 | g.149978098T= | CA1590737402 | SLC26A2 | n.678T= c.446T= (p.Ile149=) c.119T= (p.Ile40=) | |
5 | g.149978099C>A | CA447401995 | SLC26A2 | n.679C>A c.447C>A (p.Ile149=) c.120C>A (p.Ile40=) | |
5 | g.149978099C= | CA1590737403 | SLC26A2 | n.679C= c.447C= (p.Ile149=) c.120C= (p.Ile40=) | |
5 | g.149978099C>G | CA361705013 | SLC26A2 | n.679C>G c.447C>G (p.Ile149Met) c.120C>G (p.Ile40Met) | |
5 | g.149978099C>T | CA447401996 | SLC26A2 | n.679C>T c.447C>T (p.Ile149=) c.120C>T (p.Ile40=) | dbSNP gnomAD v4 COSMIC |
5 | g.149978100A= | CA1590737404 | SLC26A2 | n.680A= c.448A= (p.Ile150=) c.121A= (p.Ile41=) | |
5 | g.149978100A>C | CA361705014 | SLC26A2 | n.680A>C c.448A>C (p.Ile150Leu) c.121A>C (p.Ile41Leu) | |
5 | g.149978100A>G | CA3505249 | SLC26A2 | n.680A>G c.448A>G (p.Ile150Val) c.121A>G (p.Ile41Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978100A>T | CA361705015 | SLC26A2 | n.680A>T c.448A>T (p.Ile150Phe) c.121A>T (p.Ile41Phe) | |
5 | g.149978100_149978101delinsAT | CA1590737405 | SLC26A2 | n.680_681delinsAT c.448_449delinsAT (p.Ile150=) c.121_122delinsAT (p.Ile41=) | |
5 | g.149978101T>A | CA361705018 | SLC26A2 | n.681T>A c.449T>A (p.Ile150Asn) c.122T>A (p.Ile41Asn) | |
5 | g.149978101T>C | CA361705017 | SLC26A2 | n.681T>C c.449T>C (p.Ile150Thr) c.122T>C (p.Ile41Thr) | dbSNP gnomAD v4 |
5 | g.149978101T>G | CA361705016 | SLC26A2 | n.681T>G c.449T>G (p.Ile150Ser) c.122T>G (p.Ile41Ser) | |
5 | g.149978101T= | CA1590737406 | SLC26A2 | n.681T= c.449T= (p.Ile150=) c.122T= (p.Ile41=) | |
5 | g.149978103del | CA274352 | SLC26A2 | n.683del c.451del (p.Tyr151IlefsTer21) c.124del (p.Tyr42IlefsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978102T>A | CA447401997 | SLC26A2 | n.682T>A c.450T>A (p.Ile150=) c.123T>A (p.Ile41=) | |
5 | g.149978102T>C | CA447401998 | SLC26A2 | n.682T>C c.450T>C (p.Ile150=) c.123T>C (p.Ile41=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978102T>G | CA361705019 | SLC26A2 | n.682T>G c.450T>G (p.Ile150Met) c.123T>G (p.Ile41Met) | |
5 | g.149978102T= | CA1590737407 | SLC26A2 | n.682T= c.450T= (p.Ile150=) c.123T= (p.Ile41=) | |
5 | g.149978103T>A | CA361705020 | SLC26A2 | n.683T>A c.451T>A (p.Tyr151Asn) c.124T>A (p.Tyr42Asn) | |
5 | g.149978103T>C | CA361705021 | SLC26A2 | n.683T>C c.451T>C (p.Tyr151His) c.124T>C (p.Tyr42His) | |
5 | g.149978103T>G | CA361705022 | SLC26A2 | n.683T>G c.451T>G (p.Tyr151Asp) c.124T>G (p.Tyr42Asp) | |
5 | g.149978104A>C | CA361705023 | SLC26A2 | n.684A>C c.452A>C (p.Tyr151Ser) c.125A>C (p.Tyr42Ser) | |
5 | g.149978104A>G | CA361705024 | SLC26A2 | n.684A>G c.452A>G (p.Tyr151Cys) c.125A>G (p.Tyr42Cys) | gnomAD v4 |
5 | g.149978104A>T | CA361705025 | SLC26A2 | n.684A>T c.452A>T (p.Tyr151Phe) c.125A>T (p.Tyr42Phe) | |
5 | g.149978105T>A | CA361705026 | SLC26A2 | n.685T>A c.453T>A (p.Tyr151Ter) c.126T>A (p.Tyr42Ter) | |
5 | g.149978105T>C | CA447401999 | SLC26A2 | n.685T>C c.453T>C (p.Tyr151=) c.126T>C (p.Tyr42=) | |
5 | g.149978105T>G | CA361705027 | SLC26A2 | n.685T>G c.453T>G (p.Tyr151Ter) c.126T>G (p.Tyr42Ter) | |
5 | g.149978106T>A | CA361705028 | SLC26A2 | n.686T>A c.454T>A (p.Phe152Ile) c.127T>A (p.Phe43Ile) | gnomAD v4 |
5 | g.149978106T>C | CA361705029 | SLC26A2 | n.686T>C c.454T>C (p.Phe152Leu) c.127T>C (p.Phe43Leu) | |
5 | g.149978106T>G | CA361705030 | SLC26A2 | n.686T>G c.454T>G (p.Phe152Val) c.127T>G (p.Phe43Val) | |
5 | g.149978107T>A | CA361705032 | SLC26A2 | n.687T>A c.455T>A (p.Phe152Tyr) c.128T>A (p.Phe43Tyr) | |
5 | g.149978107T>C | CA361705033 | SLC26A2 | n.687T>C c.455T>C (p.Phe152Ser) c.128T>C (p.Phe43Ser) | |
5 | g.149978107T>G | CA361705031 | SLC26A2 | n.687T>G c.455T>G (p.Phe152Cys) c.128T>G (p.Phe43Cys) | |
5 | g.149978108T>A | CA361705035 | SLC26A2 | n.688T>A c.456T>A (p.Phe152Leu) c.129T>A (p.Phe43Leu) | |
5 | g.149978108T>C | CA447402000 | SLC26A2 | n.688T>C c.456T>C (p.Phe152=) c.129T>C (p.Phe43=) | |
5 | g.149978108T>G | CA361705034 | SLC26A2 | n.688T>G c.456T>G (p.Phe152Leu) c.129T>G (p.Phe43Leu) | |
5 | g.149978109C>A | CA361705036 | SLC26A2 | n.689C>A c.457C>A (p.Leu153Ile) c.130C>A (p.Leu44Ile) | gnomAD v4 |
5 | g.149978109C>G | CA361705037 | SLC26A2 | n.689C>G c.457C>G (p.Leu153Val) c.130C>G (p.Leu44Val) | |
5 | g.149978109C>T | CA361705038 | SLC26A2 | n.689C>T c.457C>T (p.Leu153Phe) c.130C>T (p.Leu44Phe) | |
5 | g.149978110T>A | CA361705039 | SLC26A2 | n.690T>A c.458T>A (p.Leu153His) c.131T>A (p.Leu44His) | |
5 | g.149978110T>C | CA361705040 | SLC26A2 | n.690T>C c.458T>C (p.Leu153Pro) c.131T>C (p.Leu44Pro) | gnomAD v4 |
5 | g.149978110T>G | CA361705041 | SLC26A2 | n.690T>G c.458T>G (p.Leu153Arg) c.131T>G (p.Leu44Arg) | |
5 | g.149978111C>A | CA447402003 | SLC26A2 | n.691C>A c.459C>A (p.Leu153=) c.132C>A (p.Leu44=) | |
5 | g.149978111C= | CA1590737408 | SLC26A2 | n.691C= c.459C= (p.Leu153=) c.132C= (p.Leu44=) | |
5 | g.149978111C>G | CA447402002 | SLC26A2 | n.691C>G c.459C>G (p.Leu153=) c.132C>G (p.Leu44=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978111C>T | CA447402001 | SLC26A2 | n.691C>T c.459C>T (p.Leu153=) c.132C>T (p.Leu44=) | |
5 | g.149978112T>A | CA361705042 | SLC26A2 | n.692T>A c.460T>A (p.Leu154Met) c.133T>A (p.Leu45Met) | |
5 | g.149978112T>C | CA447402004 | SLC26A2 | n.692T>C c.460T>C (p.Leu154=) c.133T>C (p.Leu45=) | gnomAD v4 |
5 | g.149978112T>G | CA361705043 | SLC26A2 | n.692T>G c.460T>G (p.Leu154Val) c.133T>G (p.Leu45Val) | |
5 | g.149978113T>A | CA361705044 | SLC26A2 | n.693T>A c.461T>A (p.Leu154Ter) c.134T>A (p.Leu45Ter) | |
5 | g.149978113T>C | CA361705045 | SLC26A2 | n.693T>C c.461T>C (p.Leu154Ser) c.134T>C (p.Leu45Ser) | |
5 | g.149978113T>G | CA361705046 | SLC26A2 | n.693T>G c.461T>G (p.Leu154Trp) c.134T>G (p.Leu45Trp) | |
5 | g.149978114G>A | CA447402005 | SLC26A2 | n.694G>A c.462G>A (p.Leu154=) c.135G>A (p.Leu45=) | dbSNP |
5 | g.149978114G>C | CA3505250 | SLC26A2 | n.694G>C c.462G>C (p.Leu154Phe) c.135G>C (p.Leu45Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978114G= | CA1590737409 | SLC26A2 | n.694G= c.462G= (p.Leu154=) c.135G= (p.Leu45=) | |
5 | g.149978114G>T | CA361705047 | SLC26A2 | n.694G>T c.462G>T (p.Leu154Phe) c.135G>T (p.Leu45Phe) | |
5 | g.149978115G>A | CA361705048 | SLC26A2 | n.695G>A c.463G>A (p.Gly155Ser) c.136G>A (p.Gly46Ser) | |
5 | g.149978115G>C | CA361705050 | SLC26A2 | n.695G>C c.463G>C (p.Gly155Arg) c.136G>C (p.Gly46Arg) | |
5 | g.149978115G>T | CA361705049 | SLC26A2 | n.695G>T c.463G>T (p.Gly155Cys) c.136G>T (p.Gly46Cys) | |
5 | g.149978116G>A | CA361705051 | SLC26A2 | n.696G>A c.464G>A (p.Gly155Asp) c.137G>A (p.Gly46Asp) | dbSNP gnomAD v4 |
5 | g.149978116G>C | CA361705052 | SLC26A2 | n.696G>C c.464G>C (p.Gly155Ala) c.137G>C (p.Gly46Ala) | |
5 | g.149978116G= | CA1590737410 | SLC26A2 | n.696G= c.464G= (p.Gly155=) c.137G= (p.Gly46=) | |
5 | g.149978116G>T | CA361705053 | SLC26A2 | n.696G>T c.464G>T (p.Gly155Val) c.137G>T (p.Gly46Val) | |
5 | g.149978117T>A | CA447402008 | SLC26A2 | n.697T>A c.465T>A (p.Gly155=) c.138T>A (p.Gly46=) | |
5 | g.149978117T>C | CA447402006 | SLC26A2 | n.697T>C c.465T>C (p.Gly155=) c.138T>C (p.Gly46=) | COSMIC |
5 | g.149978117T>G | CA447402007 | SLC26A2 | n.697T>G c.465T>G (p.Gly155=) c.138T>G (p.Gly46=) | |
5 | g.149978118A= | CA1590737411 | SLC26A2 | n.698A= c.466A= (p.Thr156=) c.139A= (p.Thr47=) | |
5 | g.149978118A>C | CA361705054 | SLC26A2 | n.698A>C c.466A>C (p.Thr156Pro) c.139A>C (p.Thr47Pro) | |
5 | g.149978118A>G | CA361705055 | SLC26A2 | n.698A>G c.466A>G (p.Thr156Ala) c.139A>G (p.Thr47Ala) | dbSNP |
5 | g.149978118A>T | CA361705056 | SLC26A2 | n.698A>T c.466A>T (p.Thr156Ser) c.139A>T (p.Thr47Ser) | |
5 | g.149978119C>A | CA3505251 | SLC26A2 | n.699C>A c.467C>A (p.Thr156Asn) c.140C>A (p.Thr47Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978119C= | CA1590737412 | SLC26A2 | n.699C= c.467C= (p.Thr156=) c.140C= (p.Thr47=) | |
5 | g.149978119C>G | CA361705057 | SLC26A2 | n.699C>G c.467C>G (p.Thr156Ser) c.140C>G (p.Thr47Ser) | |
5 | g.149978119C>T | CA129082524 | SLC26A2 | n.699C>T c.467C>T (p.Thr156Ile) c.140C>T (p.Thr47Ile) | dbSNP |