Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149978186A= | CA1590737442 | SLC26A2 | n.766A= c.534A= (p.Arg178=) c.207A= (p.Arg69=) | |
5 | g.149978186A>C | CA447402056 | SLC26A2 | n.766A>C c.534A>C (p.Arg178=) c.207A>C (p.Arg69=) | |
5 | g.149978186A>G | CA129082639 | SLC26A2 | n.766A>G c.534A>G (p.Arg178=) c.207A>G (p.Arg69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978186A>T | CA447402057 | SLC26A2 | n.766A>T c.534A>T (p.Arg178=) c.207A>T (p.Arg69=) | |
5 | g.149978187G>A | CA3505269 | SLC26A2 | n.767G>A c.535G>A (p.Glu179Lys) c.208G>A (p.Glu70Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978187G>C | CA361705190 | SLC26A2 | n.767G>C c.535G>C (p.Glu179Gln) c.208G>C (p.Glu70Gln) | |
5 | g.149978187G= | CA1590737443 | SLC26A2 | n.767G= c.535G= (p.Glu179=) c.208G= (p.Glu70=) | |
5 | g.149978187G>T | CA361705191 | SLC26A2 | n.767G>T c.535G>T (p.Glu179Ter) c.208G>T (p.Glu70Ter) | COSMIC |
5 | g.149978188A>C | CA361705192 | SLC26A2 | n.768A>C c.536A>C (p.Glu179Ala) c.209A>C (p.Glu70Ala) | |
5 | g.149978188A>G | CA361705193 | SLC26A2 | n.768A>G c.536A>G (p.Glu179Gly) c.209A>G (p.Glu70Gly) | |
5 | g.149978188A>T | CA361705194 | SLC26A2 | n.768A>T c.536A>T (p.Glu179Val) c.209A>T (p.Glu70Val) | |
5 | g.149978189A>C | CA361705195 | SLC26A2 | n.769A>C c.537A>C (p.Glu179Asp) c.210A>C (p.Glu70Asp) | |
5 | g.149978189A>G | CA447402058 | SLC26A2 | n.769A>G c.537A>G (p.Glu179=) c.210A>G (p.Glu70=) | |
5 | g.149978189A>T | CA361705196 | SLC26A2 | n.769A>T c.537A>T (p.Glu179Asp) c.210A>T (p.Glu70Asp) | |
5 | g.149978190C>A | CA361705198 | SLC26A2 | n.770C>A c.538C>A (p.Leu180Ile) c.211C>A (p.Leu71Ile) | |
5 | g.149978190C>G | CA361705197 | SLC26A2 | n.770C>G c.538C>G (p.Leu180Val) c.211C>G (p.Leu71Val) | |
5 | g.149978190C>T | CA447402059 | SLC26A2 | n.770C>T c.538C>T (p.Leu180=) c.211C>T (p.Leu71=) | |
5 | g.149978191T>A | CA361705199 | SLC26A2 | n.771T>A c.539T>A (p.Leu180Gln) c.212T>A (p.Leu71Gln) | |
5 | g.149978191T>C | CA361705201 | SLC26A2 | n.771T>C c.539T>C (p.Leu180Pro) c.212T>C (p.Leu71Pro) | |
5 | g.149978191T>G | CA361705200 | SLC26A2 | n.771T>G c.539T>G (p.Leu180Arg) c.212T>G (p.Leu71Arg) | |
5 | g.149978192A>C | CA447402060 | SLC26A2 | n.772A>C c.540A>C (p.Leu180=) c.213A>C (p.Leu71=) | |
5 | g.149978192A>G | CA447402061 | SLC26A2 | n.772A>G c.540A>G (p.Leu180=) c.213A>G (p.Leu71=) | ClinVar |
5 | g.149978192A>T | CA447402062 | SLC26A2 | n.772A>T c.540A>T (p.Leu180=) c.213A>T (p.Leu71=) | |
5 | g.149978193C>A | CA361705202 | SLC26A2 | n.773C>A c.541C>A (p.Gln181Lys) c.214C>A (p.Gln72Lys) | |
5 | g.149978193C= | CA1590737444 | SLC26A2 | n.773C= c.541C= (p.Gln181=) c.214C= (p.Gln72=) | |
5 | g.149978193C>G | CA361705203 | SLC26A2 | n.773C>G c.541C>G (p.Gln181Glu) c.214C>G (p.Gln72Glu) | |
5 | g.149978193C>T | CA16040988 | SLC26A2 | n.773C>T c.541C>T (p.Gln181Ter) c.214C>T (p.Gln72Ter) | ClinVar dbSNP |
5 | g.149978194A>C | CA361705204 | SLC26A2 | n.774A>C c.542A>C (p.Gln181Pro) c.215A>C (p.Gln72Pro) | |
5 | g.149978194A>G | CA361705205 | SLC26A2 | n.774A>G c.542A>G (p.Gln181Arg) c.215A>G (p.Gln72Arg) | gnomAD v4 |
5 | g.149978194A>T | CA361705206 | SLC26A2 | n.774A>T c.542A>T (p.Gln181Leu) c.215A>T (p.Gln72Leu) | |
5 | g.149978195G>A | CA447402063 | SLC26A2 | n.775G>A c.543G>A (p.Gln181=) c.216G>A (p.Gln72=) | |
5 | g.149978195G>C | CA361705207 | SLC26A2 | n.775G>C c.543G>C (p.Gln181His) c.216G>C (p.Gln72His) | |
5 | g.149978195G>T | CA361705208 | SLC26A2 | n.775G>T c.543G>T (p.Gln181His) c.216G>T (p.Gln72His) | |
5 | g.149978196A>C | CA361705209 | SLC26A2 | n.776A>C c.544A>C (p.Lys182Gln) c.217A>C (p.Lys73Gln) | |
5 | g.149978196A>G | CA361705211 | SLC26A2 | n.776A>G c.544A>G (p.Lys182Glu) c.217A>G (p.Lys73Glu) | |
5 | g.149978196A>T | CA361705210 | SLC26A2 | n.776A>T c.544A>T (p.Lys182Ter) c.217A>T (p.Lys73Ter) | |
5 | g.149978200_149978296dup | CA2768879950 | SLC26A2 | n.780_876dup c.548_644dup (p.Cys216TrpfsTer3) c.221_317dup (p.Cys107TrpfsTer3) | |
5 | g.149978197A= | CA1590737445 | SLC26A2 | n.777A= c.545A= (p.Lys182=) c.218A= (p.Lys73=) | |
5 | g.149978197A>C | CA361705212 | SLC26A2 | n.777A>C c.545A>C (p.Lys182Thr) c.218A>C (p.Lys73Thr) | |
5 | g.149978197A>G | CA361705213 | SLC26A2 | n.777A>G c.545A>G (p.Lys182Arg) c.218A>G (p.Lys73Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978197A>T | CA361705214 | SLC26A2 | n.777A>T c.545A>T (p.Lys182Ile) c.218A>T (p.Lys73Ile) | |
5 | g.149978198A>C | CA361705215 | SLC26A2 | n.778A>C c.546A>C (p.Lys182Asn) c.219A>C (p.Lys73Asn) | |
5 | g.149978198A>G | CA447402064 | SLC26A2 | n.778A>G c.546A>G (p.Lys182=) c.219A>G (p.Lys73=) | gnomAD v4 |
5 | g.149978198A>T | CA361705216 | SLC26A2 | n.778A>T c.546A>T (p.Lys182Asn) c.219A>T (p.Lys73Asn) | |
5 | g.149978199G>A | CA361705217 | SLC26A2 | n.779G>A c.547G>A (p.Ala183Thr) c.220G>A (p.Ala74Thr) | dbSNP gnomAD v4 |
5 | g.149978199G>C | CA361705219 | SLC26A2 | n.779G>C c.547G>C (p.Ala183Pro) c.220G>C (p.Ala74Pro) | ClinVar dbSNP |
5 | g.149978199G= | CA1590737446 | SLC26A2 | n.779G= c.547G= (p.Ala183=) c.220G= (p.Ala74=) | |
5 | g.149978199G>T | CA361705218 | SLC26A2 | n.779G>T c.547G>T (p.Ala183Ser) c.220G>T (p.Ala74Ser) | gnomAD v4 |
5 | g.149978200C>A | CA361705220 | SLC26A2 | n.780C>A c.548C>A (p.Ala183Asp) c.221C>A (p.Ala74Asp) | |
5 | g.149978200C= | CA1590737447 | SLC26A2 | n.780C= c.548C= (p.Ala183=) c.221C= (p.Ala74=) | |
5 | g.149978200C>G | CA361705221 | SLC26A2 | n.780C>G c.548C>G (p.Ala183Gly) c.221C>G (p.Ala74Gly) | |
5 | g.149978200C>T | CA361705222 | SLC26A2 | n.780C>T c.548C>T (p.Ala183Val) c.221C>T (p.Ala74Val) | dbSNP gnomAD v4 |
5 | g.149978201T>A | CA447402067 | SLC26A2 | n.781T>A c.549T>A (p.Ala183=) c.222T>A (p.Ala74=) | |
5 | g.149978201T>C | CA447402066 | SLC26A2 | n.781T>C c.549T>C (p.Ala183=) c.222T>C (p.Ala74=) | |
5 | g.149978201T>G | CA447402065 | SLC26A2 | n.781T>G c.549T>G (p.Ala183=) c.222T>G (p.Ala74=) | |
5 | g.149978202G>A | CA361705223 | SLC26A2 | n.782G>A c.550G>A (p.Gly184Ser) c.223G>A (p.Gly75Ser) | |
5 | g.149978202G>C | CA361705224 | SLC26A2 | n.782G>C c.550G>C (p.Gly184Arg) c.223G>C (p.Gly75Arg) | |
5 | g.149978202G>T | CA361705225 | SLC26A2 | n.782G>T c.550G>T (p.Gly184Cys) c.223G>T (p.Gly75Cys) | |
5 | g.149978203G>A | CA361705226 | SLC26A2 | n.783G>A c.551G>A (p.Gly184Asp) c.224G>A (p.Gly75Asp) | |
5 | g.149978203G>C | CA361705227 | SLC26A2 | n.783G>C c.551G>C (p.Gly184Ala) c.224G>C (p.Gly75Ala) | |
5 | g.149978203G= | CA1590737448 | SLC26A2 | n.783G= c.551G= (p.Gly184=) c.224G= (p.Gly75=) | |
5 | g.149978203G>T | CA3505270 | SLC26A2 | n.783G>T c.551G>T (p.Gly184Val) c.224G>T (p.Gly75Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978204C>A | CA447402068 | SLC26A2 | n.784C>A c.552C>A (p.Gly184=) c.225C>A (p.Gly75=) | |
5 | g.149978204C= | CA1590737449 | SLC26A2 | n.784C= c.552C= (p.Gly184=) c.225C= (p.Gly75=) | |
5 | g.149978204C>G | CA3505271 | SLC26A2 | n.784C>G c.552C>G (p.Gly184=) c.225C>G (p.Gly75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978204C>T | CA447402069 | SLC26A2 | n.784C>T c.552C>T (p.Gly184=) c.225C>T (p.Gly75=) | gnomAD v4 |
5 | g.149978205T>A | CA361705228 | SLC26A2 | n.785T>A c.553T>A (p.Tyr185Asn) c.226T>A (p.Tyr76Asn) | gnomAD v4 |
5 | g.149978205T>C | CA361705229 | SLC26A2 | n.785T>C c.553T>C (p.Tyr185His) c.226T>C (p.Tyr76His) | |
5 | g.149978205T>G | CA361705230 | SLC26A2 | n.785T>G c.553T>G (p.Tyr185Asp) c.226T>G (p.Tyr76Asp) | |
5 | g.149978206A= | CA1590737450 | SLC26A2 | n.786A= c.554A= (p.Tyr185=) c.227A= (p.Tyr76=) | |
5 | g.149978206A>C | CA361705231 | SLC26A2 | n.786A>C c.554A>C (p.Tyr185Ser) c.227A>C (p.Tyr76Ser) | gnomAD v4 |
5 | g.149978206A>G | CA3505272 | SLC26A2 | n.786A>G c.554A>G (p.Tyr185Cys) c.227A>G (p.Tyr76Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978206A>T | CA361705232 | SLC26A2 | n.786A>T c.554A>T (p.Tyr185Phe) c.227A>T (p.Tyr76Phe) | |
5 | g.149978207T>A | CA361705233 | SLC26A2 | n.787T>A c.555T>A (p.Tyr185Ter) c.228T>A (p.Tyr76Ter) | |
5 | g.149978207T>C | CA3505273 | SLC26A2 | n.787T>C c.555T>C (p.Tyr185=) c.228T>C (p.Tyr76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978207T>G | CA361705234 | SLC26A2 | n.787T>G c.555T>G (p.Tyr185Ter) c.228T>G (p.Tyr76Ter) | |
5 | g.149978207T= | CA1590737451 | SLC26A2 | n.787T= c.555T= (p.Tyr185=) c.228T= (p.Tyr76=) | |
5 | g.149978208G>A | CA361705235 | SLC26A2 | n.788G>A c.556G>A (p.Asp186Asn) c.229G>A (p.Asp77Asn) | |
5 | g.149978208G>C | CA3505274 | SLC26A2 | n.788G>C c.556G>C (p.Asp186His) c.229G>C (p.Asp77His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978208G= | CA1590737452 | SLC26A2 | n.788G= c.556G= (p.Asp186=) c.229G= (p.Asp77=) | |
5 | g.149978208G>T | CA361705236 | SLC26A2 | n.788G>T c.556G>T (p.Asp186Tyr) c.229G>T (p.Asp77Tyr) | |
5 | g.149978209A>C | CA361705239 | SLC26A2 | n.789A>C c.557A>C (p.Asp186Ala) c.230A>C (p.Asp77Ala) | |
5 | g.149978209A>G | CA361705237 | SLC26A2 | n.789A>G c.557A>G (p.Asp186Gly) c.230A>G (p.Asp77Gly) | |
5 | g.149978209A>T | CA361705238 | SLC26A2 | n.789A>T c.557A>T (p.Asp186Val) c.230A>T (p.Asp77Val) | |
5 | g.149978210C>A | CA361705240 | SLC26A2 | n.790C>A c.558C>A (p.Asp186Glu) c.231C>A (p.Asp77Glu) | |
5 | g.149978210C= | CA1590737453 | SLC26A2 | n.790C= c.558C= (p.Asp186=) c.231C= (p.Asp77=) | |
5 | g.149978210C>G | CA361705241 | SLC26A2 | n.790C>G c.558C>G (p.Asp186Glu) c.231C>G (p.Asp77Glu) | |
5 | g.149978210C>T | CA447402077 | SLC26A2 | n.790C>T c.558C>T (p.Asp186=) c.231C>T (p.Asp77=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978211A= | CA1590737454 | SLC26A2 | n.791A= c.559A= (p.Asn187=) c.232A= (p.Asn78=) | |
5 | g.149978211A>C | CA361705242 | SLC26A2 | n.791A>C c.559A>C (p.Asn187His) c.232A>C (p.Asn78His) | |
5 | g.149978211A>G | CA361705243 | SLC26A2 | n.791A>G c.559A>G (p.Asn187Asp) c.232A>G (p.Asn78Asp) | |
5 | g.149978211A>T | CA361705244 | SLC26A2 | n.791A>T c.559A>T (p.Asn187Tyr) c.232A>T (p.Asn78Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978212A= | CA1590737455 | SLC26A2 | n.792A= c.560A= (p.Asn187=) c.233A= (p.Asn78=) | |
5 | g.149978212A>C | CA361705245 | SLC26A2 | n.792A>C c.560A>C (p.Asn187Thr) c.233A>C (p.Asn78Thr) | |
5 | g.149978212A>G | CA3505275 | SLC26A2 | n.792A>G c.560A>G (p.Asn187Ser) c.233A>G (p.Asn78Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978212A>T | CA361705246 | SLC26A2 | n.792A>T c.560A>T (p.Asn187Ile) c.233A>T (p.Asn78Ile) | |
5 | g.149978213T>A | CA361705247 | SLC26A2 | n.793T>A c.561T>A (p.Asn187Lys) c.234T>A (p.Asn78Lys) | |
5 | g.149978213T>C | CA447402082 | SLC26A2 | n.793T>C c.561T>C (p.Asn187=) c.234T>C (p.Asn78=) | |
5 | g.149978213T>G | CA361705248 | SLC26A2 | n.793T>G c.561T>G (p.Asn187Lys) c.234T>G (p.Asn78Lys) | |
5 | g.149978214G>A | CA361705249 | SLC26A2 | n.794G>A c.562G>A (p.Ala188Thr) c.235G>A (p.Ala79Thr) | dbSNP |
5 | g.149978214G>C | CA361705250 | SLC26A2 | n.794G>C c.562G>C (p.Ala188Pro) c.235G>C (p.Ala79Pro) | |
5 | g.149978214G= | CA1590737456 | SLC26A2 | n.794G= c.562G= (p.Ala188=) c.235G= (p.Ala79=) | |
5 | g.149978214G>T | CA361705251 | SLC26A2 | n.794G>T c.562G>T (p.Ala188Ser) c.235G>T (p.Ala79Ser) | gnomAD v4 |
5 | g.149978215C>A | CA361705252 | SLC26A2 | n.795C>A c.563C>A (p.Ala188Asp) c.236C>A (p.Ala79Asp) | |
5 | g.149978215C>G | CA361705253 | SLC26A2 | n.795C>G c.563C>G (p.Ala188Gly) c.236C>G (p.Ala79Gly) | |
5 | g.149978215C>T | CA361705254 | SLC26A2 | n.795C>T c.563C>T (p.Ala188Val) c.236C>T (p.Ala79Val) | |
5 | g.149978216C>A | CA447402089 | SLC26A2 | n.796C>A c.564C>A (p.Ala188=) c.237C>A (p.Ala79=) | |
5 | g.149978216C= | CA1590737457 | SLC26A2 | n.796C= c.564C= (p.Ala188=) c.237C= (p.Ala79=) | |
5 | g.149978216C>G | CA447402088 | SLC26A2 | n.796C>G c.564C>G (p.Ala188=) c.237C>G (p.Ala79=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978216C>T | CA447402087 | SLC26A2 | n.796C>T c.564C>T (p.Ala188=) c.237C>T (p.Ala79=) | gnomAD v4 |
5 | g.149978217C>A | CA361705255 | SLC26A2 | n.797C>A c.565C>A (p.His189Asn) c.238C>A (p.His80Asn) | |
5 | g.149978217C= | CA1590737458 | SLC26A2 | n.797C= c.565C= (p.His189=) c.238C= (p.His80=) | |
5 | g.149978217C>G | CA361705256 | SLC26A2 | n.797C>G c.565C>G (p.His189Asp) c.238C>G (p.His80Asp) | |
5 | g.149978217C>T | CA361705257 | SLC26A2 | n.797C>T c.565C>T (p.His189Tyr) c.238C>T (p.His80Tyr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978218A= | CA1590737459 | SLC26A2 | n.798A= c.566A= (p.His189=) c.239A= (p.His80=) | |
5 | g.149978218A>C | CA361705259 | SLC26A2 | n.798A>C c.566A>C (p.His189Pro) c.239A>C (p.His80Pro) | |
5 | g.149978218A>G | CA3505276 | SLC26A2 | n.798A>G c.566A>G (p.His189Arg) c.239A>G (p.His80Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978218A>T | CA361705258 | SLC26A2 | n.798A>T c.566A>T (p.His189Leu) c.239A>T (p.His80Leu) | |
5 | g.149978219T>A | CA361705260 | SLC26A2 | n.799T>A c.567T>A (p.His189Gln) c.240T>A (p.His80Gln) | |
5 | g.149978219T>C | CA129082662 | SLC26A2 | n.799T>C c.567T>C (p.His189=) c.240T>C (p.His80=) | dbSNP |
5 | g.149978219T>G | CA361705261 | SLC26A2 | n.799T>G c.567T>G (p.His189Gln) c.240T>G (p.His80Gln) | |
5 | g.149978219T= | CA1590737460 | SLC26A2 | n.799T= c.567T= (p.His189=) c.240T= (p.His80=) | |
5 | g.149978219dup | CA2675943468 | SLC26A2 | n.799dup c.567dup (p.Ser190Ter) c.240dup (p.Ser81Ter) | ClinVar gnomAD v4 |
5 | g.149978220A= | CA1590737461 | SLC26A2 | n.800A= c.568A= (p.Ser190=) c.241A= (p.Ser81=) | |
5 | g.149978220A>C | CA361705262 | SLC26A2 | n.800A>C c.568A>C (p.Ser190Arg) c.241A>C (p.Ser81Arg) | |
5 | g.149978220A>G | CA361705263 | SLC26A2 | n.800A>G c.568A>G (p.Ser190Gly) c.241A>G (p.Ser81Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978220A>T | CA3505277 | SLC26A2 | n.800A>T c.568A>T (p.Ser190Cys) c.241A>T (p.Ser81Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978221G>A | CA361705264 | SLC26A2 | n.801G>A c.569G>A (p.Ser190Asn) c.242G>A (p.Ser81Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978221G>C | CA361705265 | SLC26A2 | n.801G>C c.569G>C (p.Ser190Thr) c.242G>C (p.Ser81Thr) | |
5 | g.149978221G= | CA1590737462 | SLC26A2 | n.801G= c.569G= (p.Ser190=) c.242G= (p.Ser81=) | |
5 | g.149978221G>T | CA361705266 | SLC26A2 | n.801G>T c.569G>T (p.Ser190Ile) c.242G>T (p.Ser81Ile) | |
5 | g.149978222T>A | CA361705267 | SLC26A2 | n.802T>A c.570T>A (p.Ser190Arg) c.243T>A (p.Ser81Arg) | |
5 | g.149978222T>C | CA447402096 | SLC26A2 | n.802T>C c.570T>C (p.Ser190=) c.243T>C (p.Ser81=) | gnomAD v4 |
5 | g.149978222T>G | CA361705268 | SLC26A2 | n.802T>G c.570T>G (p.Ser190Arg) c.243T>G (p.Ser81Arg) | |
5 | g.149978223G>A | CA361705269 | SLC26A2 | n.803G>A c.571G>A (p.Ala191Thr) c.244G>A (p.Ala82Thr) | |
5 | g.149978223G>C | CA361705270 | SLC26A2 | n.803G>C c.571G>C (p.Ala191Pro) c.244G>C (p.Ala82Pro) | |
5 | g.149978223G= | CA1590737464 | SLC26A2 | n.803G= c.571G= (p.Ala191=) c.244G= (p.Ala82=) | |
5 | g.149978223G>T | CA129082669 | SLC26A2 | n.803G>T c.571G>T (p.Ala191Ser) c.244G>T (p.Ala82Ser) | dbSNP |
5 | g.149978223_149978224delinsTT | CA2695205644 | SLC26A2 | n.803_804delinsTT c.571_572delinsTT (p.Ala191Phe) c.244_245delinsTT (p.Ala82Phe) | |
5 | g.149978223_149978226delinsGCTC | CA1590737463 | SLC26A2 | n.803_806delinsGCTC c.571_574delinsGCTC (p.Ala191=) c.244_247delinsGCTC (p.Ala82=) | |
5 | g.149978224C>A | CA361705272 | SLC26A2 | n.804C>A c.572C>A (p.Ala191Asp) c.245C>A (p.Ala82Asp) | |
5 | g.149978224C= | CA1590737465 | SLC26A2 | n.804C= c.572C= (p.Ala191=) c.245C= (p.Ala82=) | |
5 | g.149978224C>G | CA361705271 | SLC26A2 | n.804C>G c.572C>G (p.Ala191Gly) c.245C>G (p.Ala82Gly) | |
5 | g.149978224C>T | CA3505279 | SLC26A2 | n.804C>T c.572C>T (p.Ala191Val) c.245C>T (p.Ala82Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.149978224_149978228del | CA913108444 | SLC26A2 | n.804_808del c.572_576del (p.Ala191ValfsTer21) c.245_249del (p.Ala82ValfsTer21) | |
5 | g.149978224_149978228delinsCTCCT | CA1590737466 | SLC26A2 | n.804_808delinsCTCCT c.572_576delinsCTCCT (p.Ala191=) c.245_249delinsCTCCT (p.Ala82=) | |
5 | g.149978226_149978228del | CA3505278 | SLC26A2 | n.806_808del c.574_576del (p.Pro192del) c.247_249del (p.Pro83del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978225T>A | CA447402102 | SLC26A2 | n.805T>A c.573T>A (p.Ala191=) c.246T>A (p.Ala82=) | |
5 | g.149978225T>C | CA129082682 | SLC26A2 | n.805T>C c.573T>C (p.Ala191=) c.246T>C (p.Ala82=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978225T>G | CA129082685 | SLC26A2 | n.805T>G c.573T>G (p.Ala191=) c.246T>G (p.Ala82=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978225T= | CA1590737467 | SLC26A2 | n.805T= c.573T= (p.Ala191=) c.246T= (p.Ala82=) | |
5 | g.149978230_149978233del | CA658822214 | SLC26A2 | n.810_813del c.578_581del (p.Ser193Ter) c.251_254del (p.Ser84Ter) | ClinVar dbSNP |
5 | g.149978226C>A | CA361705273 | SLC26A2 | n.806C>A c.574C>A (p.Pro192Thr) c.247C>A (p.Pro83Thr) | |
5 | g.149978226C>G | CA361705274 | SLC26A2 | n.806C>G c.574C>G (p.Pro192Ala) c.247C>G (p.Pro83Ala) | |
5 | g.149978226C>T | CA361705275 | SLC26A2 | n.806C>T c.574C>T (p.Pro192Ser) c.247C>T (p.Pro83Ser) | gnomAD v4 |
5 | g.149978227C>A | CA361705276 | SLC26A2 | n.807C>A c.575C>A (p.Pro192His) c.248C>A (p.Pro83His) | |
5 | g.149978227C= | CA1590737468 | SLC26A2 | n.807C= c.575C= (p.Pro192=) c.248C= (p.Pro83=) | |
5 | g.149978227C>G | CA361705277 | SLC26A2 | n.807C>G c.575C>G (p.Pro192Arg) c.248C>G (p.Pro83Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978227C>T | CA361705278 | SLC26A2 | n.807C>T c.575C>T (p.Pro192Leu) c.248C>T (p.Pro83Leu) | gnomAD v4 |
5 | g.149978227_149978228insCATTTGAAACCA | CA2830539955 | SLC26A2 | n.807_808insCATTTGAAACCA c.575_576insCATTTGAAACCA (p.Pro193IlefsTer2) c.248_249insCATTTGAAACCA (p.Pro84IlefsTer2) | |
5 | g.149978228T>A | CA447402108 | SLC26A2 | n.808T>A c.576T>A (p.Pro192=) c.249T>A (p.Pro83=) | |
5 | g.149978228T>C | CA447402110 | SLC26A2 | n.808T>C c.576T>C (p.Pro192=) c.249T>C (p.Pro83=) | gnomAD v4 |
5 | g.149978228T>G | CA447402111 | SLC26A2 | n.808T>G c.576T>G (p.Pro192=) c.249T>G (p.Pro83=) | |
5 | g.149978229T>A | CA361705279 | SLC26A2 | n.809T>A c.577T>A (p.Ser193Thr) c.250T>A (p.Ser84Thr) | |
5 | g.149978229T>C | CA361705280 | SLC26A2 | n.809T>C c.577T>C (p.Ser193Pro) c.250T>C (p.Ser84Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978229T>G | CA361705281 | SLC26A2 | n.809T>G c.577T>G (p.Ser193Ala) c.250T>G (p.Ser84Ala) | |
5 | g.149978229T= | CA1590737469 | SLC26A2 | n.809T= c.577T= (p.Ser193=) c.250T= (p.Ser84=) | |
5 | g.149978230C>A | CA361705282 | SLC26A2 | n.810C>A c.578C>A (p.Ser193Tyr) c.251C>A (p.Ser84Tyr) | |
5 | g.149978230C>G | CA361705283 | SLC26A2 | n.810C>G c.578C>G (p.Ser193Cys) c.251C>G (p.Ser84Cys) | |
5 | g.149978230C>T | CA361705284 | SLC26A2 | n.810C>T c.578C>T (p.Ser193Phe) c.251C>T (p.Ser84Phe) | |
5 | g.149978231C>A | CA447402116 | SLC26A2 | n.811C>A c.579C>A (p.Ser193=) c.252C>A (p.Ser84=) | |
5 | g.149978231C>G | CA447402117 | SLC26A2 | n.811C>G c.579C>G (p.Ser193=) c.252C>G (p.Ser84=) | gnomAD v4 |
5 | g.149978231C>T | CA447402115 | SLC26A2 | n.811C>T c.579C>T (p.Ser193=) c.252C>T (p.Ser84=) | |
5 | g.149978232T>A | CA361705286 | SLC26A2 | n.812T>A c.580T>A (p.Leu194Ile) c.253T>A (p.Leu85Ile) | |
5 | g.149978232T>C | CA447402119 | SLC26A2 | n.812T>C c.580T>C (p.Leu194=) c.253T>C (p.Leu85=) | |
5 | g.149978232T>G | CA361705285 | SLC26A2 | n.812T>G c.580T>G (p.Leu194Val) c.253T>G (p.Leu85Val) | |
5 | g.149978233_149978239del | CA2768879961 | SLC26A2 | n.813_819del c.581_587del (p.Leu194TrpfsTer9) c.254_260del (p.Leu85TrpfsTer9) | |
5 | g.149978233T>A | CA361705287 | SLC26A2 | n.813T>A c.581T>A (p.Leu194Ter) c.254T>A (p.Leu85Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978233T>C | CA361705288 | SLC26A2 | n.813T>C c.581T>C (p.Leu194Ser) c.254T>C (p.Leu85Ser) | |
5 | g.149978233T>G | CA361705289 | SLC26A2 | n.813T>G c.581T>G (p.Leu194Ter) c.254T>G (p.Leu85Ter) | |
5 | g.149978233T= | CA1590737470 | SLC26A2 | n.813T= c.581T= (p.Leu194=) c.254T= (p.Leu85=) | |
5 | g.149978234A>C | CA361705290 | SLC26A2 | n.814A>C c.582A>C (p.Leu194Phe) c.255A>C (p.Leu85Phe) | |
5 | g.149978234A>G | CA447402123 | SLC26A2 | n.814A>G c.582A>G (p.Leu194=) c.255A>G (p.Leu85=) | |
5 | g.149978234A>T | CA361705291 | SLC26A2 | n.814A>T c.582A>T (p.Leu194Phe) c.255A>T (p.Leu85Phe) | |
5 | g.149978235G>A | CA361705294 | SLC26A2 | n.815G>A c.583G>A (p.Gly195Arg) c.256G>A (p.Gly86Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978235G>C | CA361705293 | SLC26A2 | n.815G>C c.583G>C (p.Gly195Arg) c.256G>C (p.Gly86Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978235G= | CA1590737471 | SLC26A2 | n.815G= c.583G= (p.Gly195=) c.256G= (p.Gly86=) | |
5 | g.149978235G>T | CA361705292 | SLC26A2 | n.815G>T c.583G>T (p.Gly195Ter) c.256G>T (p.Gly86Ter) | |
5 | g.149978236G>A | CA361705295 | SLC26A2 | n.816G>A c.584G>A (p.Gly195Glu) c.257G>A (p.Gly86Glu) | |
5 | g.149978236G>C | CA361705296 | SLC26A2 | n.816G>C c.584G>C (p.Gly195Ala) c.257G>C (p.Gly86Ala) | |
5 | g.149978236G>T | CA361705297 | SLC26A2 | n.816G>T c.584G>T (p.Gly195Val) c.257G>T (p.Gly86Val) | |
5 | g.149978237A>C | CA447402127 | SLC26A2 | n.817A>C c.585A>C (p.Gly195=) c.258A>C (p.Gly86=) | |
5 | g.149978237A>G | CA447402128 | SLC26A2 | n.817A>G c.585A>G (p.Gly195=) c.258A>G (p.Gly86=) | |
5 | g.149978237A>T | CA447402126 | SLC26A2 | n.817A>T c.585A>T (p.Gly195=) c.258A>T (p.Gly86=) | |
5 | g.149978238A>C | CA361705298 | SLC26A2 | n.818A>C c.586A>C (p.Met196Leu) c.259A>C (p.Met87Leu) | COSMIC |
5 | g.149978238A>G | CA361705299 | SLC26A2 | n.818A>G c.586A>G (p.Met196Val) c.259A>G (p.Met87Val) | |
5 | g.149978238A>T | CA361705300 | SLC26A2 | n.818A>T c.586A>T (p.Met196Leu) c.259A>T (p.Met87Leu) | |
5 | g.149978239T>A | CA361705303 | SLC26A2 | n.819T>A c.587T>A (p.Met196Lys) c.260T>A (p.Met87Lys) | |
5 | g.149978239T>C | CA361705301 | SLC26A2 | n.819T>C c.587T>C (p.Met196Thr) c.260T>C (p.Met87Thr) | |
5 | g.149978239T>G | CA361705302 | SLC26A2 | n.819T>G c.587T>G (p.Met196Arg) c.260T>G (p.Met87Arg) | |
5 | g.149978239_149978250del | CA2830539956 | SLC26A2 | n.819_830del c.587_598del (p.Met196_Gly200delinsArg) c.260_271del (p.Met87_Gly91delinsArg) | |
5 | g.149978240G>A | CA361705304 | SLC26A2 | n.820G>A c.588G>A (p.Met196Ile) c.261G>A (p.Met87Ile) | |
5 | g.149978240G>C | CA361705305 | SLC26A2 | n.820G>C c.588G>C (p.Met196Ile) c.261G>C (p.Met87Ile) | |
5 | g.149978240G>T | CA361705306 | SLC26A2 | n.820G>T c.588G>T (p.Met196Ile) c.261G>T (p.Met87Ile) | |
5 | g.149978241G>A | CA361705307 | SLC26A2 | n.821G>A c.589G>A (p.Val197Ile) c.262G>A (p.Val88Ile) | |
5 | g.149978241G>C | CA361705308 | SLC26A2 | n.821G>C c.589G>C (p.Val197Leu) c.262G>C (p.Val88Leu) | |
5 | g.149978241G>T | CA361705309 | SLC26A2 | n.821G>T c.589G>T (p.Val197Phe) c.262G>T (p.Val88Phe) | |
5 | g.149978242T>A | CA361705310 | SLC26A2 | n.822T>A c.590T>A (p.Val197Asp) c.263T>A (p.Val88Asp) | |
5 | g.149978242T>C | CA361705311 | SLC26A2 | n.822T>C c.590T>C (p.Val197Ala) c.263T>C (p.Val88Ala) | |
5 | g.149978242T>G | CA361705312 | SLC26A2 | n.822T>G c.590T>G (p.Val197Gly) c.263T>G (p.Val88Gly) | |
5 | g.149978243T>A | CA447402137 | SLC26A2 | n.823T>A c.591T>A (p.Val197=) c.264T>A (p.Val88=) | |
5 | g.149978243T>C | CA447402133 | SLC26A2 | n.823T>C c.591T>C (p.Val197=) c.264T>C (p.Val88=) | |
5 | g.149978243T>G | CA447402135 | SLC26A2 | n.823T>G c.591T>G (p.Val197=) c.264T>G (p.Val88=) | |
5 | g.149978244T>A | CA361705313 | SLC26A2 | n.824T>A c.592T>A (p.Ser198Thr) c.265T>A (p.Ser89Thr) | |
5 | g.149978244T>C | CA361705314 | SLC26A2 | n.824T>C c.592T>C (p.Ser198Pro) c.265T>C (p.Ser89Pro) | |
5 | g.149978244T>G | CA361705315 | SLC26A2 | n.824T>G c.592T>G (p.Ser198Ala) c.265T>G (p.Ser89Ala) | |
5 | g.149978245C>A | CA361705318 | SLC26A2 | n.825C>A c.593C>A (p.Ser198Ter) c.266C>A (p.Ser89Ter) | gnomAD v4 |
5 | g.149978245C>G | CA361705316 | SLC26A2 | n.825C>G c.593C>G (p.Ser198Ter) c.266C>G (p.Ser89Ter) | |
5 | g.149978245C>T | CA361705317 | SLC26A2 | n.825C>T c.593C>T (p.Ser198Leu) c.266C>T (p.Ser89Leu) | |
5 | g.149978246A>C | CA447402142 | SLC26A2 | n.826A>C c.594A>C (p.Ser198=) c.267A>C (p.Ser89=) | |
5 | g.149978246A>G | CA447402143 | SLC26A2 | n.826A>G c.594A>G (p.Ser198=) c.267A>G (p.Ser89=) | |
5 | g.149978246A>T | CA447402144 | SLC26A2 | n.826A>T c.594A>T (p.Ser198=) c.267A>T (p.Ser89=) | |
5 | g.149978247A= | CA1590737472 | SLC26A2 | n.827A= c.595A= (p.Asn199=) c.268A= (p.Asn90=) | |
5 | g.149978247A>C | CA361705319 | SLC26A2 | n.827A>C c.595A>C (p.Asn199His) c.268A>C (p.Asn90His) | |
5 | g.149978247A>G | CA3505280 | SLC26A2 | n.827A>G c.595A>G (p.Asn199Asp) c.268A>G (p.Asn90Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978247A>T | CA361705320 | SLC26A2 | n.827A>T c.595A>T (p.Asn199Tyr) c.268A>T (p.Asn90Tyr) | |
5 | g.149978248A>C | CA361705321 | SLC26A2 | n.828A>C c.596A>C (p.Asn199Thr) c.269A>C (p.Asn90Thr) | |
5 | g.149978248A>G | CA361705323 | SLC26A2 | n.828A>G c.596A>G (p.Asn199Ser) c.269A>G (p.Asn90Ser) | ClinVar dbSNP |
5 | g.149978248A>T | CA361705322 | SLC26A2 | n.828A>T c.596A>T (p.Asn199Ile) c.269A>T (p.Asn90Ile) | |
5 | g.149978249T>A | CA361705324 | SLC26A2 | n.829T>A c.597T>A (p.Asn199Lys) c.270T>A (p.Asn90Lys) | |
5 | g.149978249T>C | CA447402145 | SLC26A2 | n.829T>C c.597T>C (p.Asn199=) c.270T>C (p.Asn90=) | COSMIC |
5 | g.149978249T>G | CA361705325 | SLC26A2 | n.829T>G c.597T>G (p.Asn199Lys) c.270T>G (p.Asn90Lys) | |
5 | g.149978250G>A | CA361705326 | SLC26A2 | n.830G>A c.598G>A (p.Gly200Arg) c.271G>A (p.Gly91Arg) | |
5 | g.149978250G>C | CA361705327 | SLC26A2 | n.830G>C c.598G>C (p.Gly200Arg) c.271G>C (p.Gly91Arg) | |
5 | g.149978250G>T | CA361705328 | SLC26A2 | n.830G>T c.598G>T (p.Gly200Trp) c.271G>T (p.Gly91Trp) | |
5 | g.149978251G>A | CA361705329 | SLC26A2 | n.831G>A c.599G>A (p.Gly200Glu) c.272G>A (p.Gly91Glu) | dbSNP |
5 | g.149978251G>C | CA361705330 | SLC26A2 | n.831G>C c.599G>C (p.Gly200Ala) c.272G>C (p.Gly91Ala) | |
5 | g.149978251G= | CA1590737473 | SLC26A2 | n.831G= c.599G= (p.Gly200=) c.272G= (p.Gly91=) | |
5 | g.149978251G>T | CA3505281 | SLC26A2 | n.831G>T c.599G>T (p.Gly200Val) c.272G>T (p.Gly91Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978252G>A | CA447402147 | SLC26A2 | n.832G>A c.600G>A (p.Gly200=) c.273G>A (p.Gly91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978252G>C | CA447402148 | SLC26A2 | n.832G>C c.600G>C (p.Gly200=) c.273G>C (p.Gly91=) | |
5 | g.149978252G= | CA1590737474 | SLC26A2 | n.832G= c.600G= (p.Gly200=) c.273G= (p.Gly91=) | |
5 | g.149978252G>T | CA447402149 | SLC26A2 | n.832G>T c.600G>T (p.Gly200=) c.273G>T (p.Gly91=) | |
5 | g.149978253A= | CA1590737475 | SLC26A2 | n.833A= c.601A= (p.Ser201=) c.274A= (p.Ser92=) | |
5 | g.149978253A>C | CA361705331 | SLC26A2 | n.833A>C c.601A>C (p.Ser201Arg) c.274A>C (p.Ser92Arg) | |
5 | g.149978253A>G | CA361705332 | SLC26A2 | n.833A>G c.601A>G (p.Ser201Gly) c.274A>G (p.Ser92Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978253A>T | CA361705333 | SLC26A2 | n.833A>T c.601A>T (p.Ser201Cys) c.274A>T (p.Ser92Cys) | |
5 | g.149978254G>A | CA361705336 | SLC26A2 | n.834G>A c.602G>A (p.Ser201Asn) c.275G>A (p.Ser92Asn) | |
5 | g.149978254G>C | CA361705334 | SLC26A2 | n.834G>C c.602G>C (p.Ser201Thr) c.275G>C (p.Ser92Thr) | |
5 | g.149978254G>T | CA361705335 | SLC26A2 | n.834G>T c.602G>T (p.Ser201Ile) c.275G>T (p.Ser92Ile) | |
5 | g.149978255C>A | CA361705337 | SLC26A2 | n.835C>A c.603C>A (p.Ser201Arg) c.276C>A (p.Ser92Arg) | |
5 | g.149978255C>G | CA361705338 | SLC26A2 | n.835C>G c.603C>G (p.Ser201Arg) c.276C>G (p.Ser92Arg) | |
5 | g.149978255C>T | CA447402153 | SLC26A2 | n.835C>T c.603C>T (p.Ser201=) c.276C>T (p.Ser92=) | |
5 | g.149978256A>C | CA361705339 | SLC26A2 | n.836A>C c.604A>C (p.Thr202Pro) c.277A>C (p.Thr93Pro) | |
5 | g.149978256A>G | CA361705340 | SLC26A2 | n.836A>G c.604A>G (p.Thr202Ala) c.277A>G (p.Thr93Ala) | |
5 | g.149978256A>T | CA361705341 | SLC26A2 | n.836A>T c.604A>T (p.Thr202Ser) c.277A>T (p.Thr93Ser) | |
5 | g.149978257C>A | CA361705342 | SLC26A2 | n.837C>A c.605C>A (p.Thr202Lys) c.278C>A (p.Thr93Lys) | |
5 | g.149978257C>G | CA361705343 | SLC26A2 | n.837C>G c.605C>G (p.Thr202Arg) c.278C>G (p.Thr93Arg) | |
5 | g.149978257C>T | CA361705344 | SLC26A2 | n.837C>T c.605C>T (p.Thr202Ile) c.278C>T (p.Thr93Ile) | dbSNP |
5 | g.149978258A= | CA1590737476 | SLC26A2 | n.838A= c.606A= (p.Thr202=) c.279A= (p.Thr93=) | |
5 | g.149978258A>C | CA447402158 | SLC26A2 | n.838A>C c.606A>C (p.Thr202=) c.279A>C (p.Thr93=) | |
5 | g.149978258A>G | CA447402160 | SLC26A2 | n.838A>G c.606A>G (p.Thr202=) c.279A>G (p.Thr93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978258A>T | CA447402162 | SLC26A2 | n.838A>T c.606A>T (p.Thr202=) c.279A>T (p.Thr93=) | |
5 | g.149978259T>A | CA361705345 | SLC26A2 | n.839T>A c.607T>A (p.Leu203Ile) c.280T>A (p.Leu94Ile) | |
5 | g.149978259T>C | CA447402163 | SLC26A2 | n.839T>C c.607T>C (p.Leu203=) c.280T>C (p.Leu94=) | |
5 | g.149978259T>G | CA361705346 | SLC26A2 | n.839T>G c.607T>G (p.Leu203Val) c.280T>G (p.Leu94Val) | |
5 | g.149978260T>A | CA361705348 | SLC26A2 | n.840T>A c.608T>A (p.Leu203Ter) c.281T>A (p.Leu94Ter) | |
5 | g.149978260T>C | CA361705349 | SLC26A2 | n.840T>C c.608T>C (p.Leu203Ser) c.281T>C (p.Leu94Ser) | gnomAD v4 |
5 | g.149978260T>G | CA361705347 | SLC26A2 | n.840T>G c.608T>G (p.Leu203Ter) c.281T>G (p.Leu94Ter) | |
5 | g.149978261A>C | CA361705350 | SLC26A2 | n.841A>C c.609A>C (p.Leu203Phe) c.282A>C (p.Leu94Phe) | |
5 | g.149978261A>G | CA447402167 | SLC26A2 | n.841A>G c.609A>G (p.Leu203=) c.282A>G (p.Leu94=) | |
5 | g.149978261A>T | CA361705351 | SLC26A2 | n.841A>T c.609A>T (p.Leu203Phe) c.282A>T (p.Leu94Phe) | |
5 | g.149978262T>A | CA361705352 | SLC26A2 | n.842T>A c.610T>A (p.Leu204Ile) c.283T>A (p.Leu95Ile) | |
5 | g.149978262T>C | CA447402168 | SLC26A2 | n.842T>C c.610T>C (p.Leu204=) c.283T>C (p.Leu95=) | |
5 | g.149978262T>G | CA361705353 | SLC26A2 | n.842T>G c.610T>G (p.Leu204Val) c.283T>G (p.Leu95Val) | ClinVar |
5 | g.149978263T>A | CA361705354 | SLC26A2 | n.843T>A c.611T>A (p.Leu204Ter) c.284T>A (p.Leu95Ter) | |
5 | g.149978263T>C | CA361705355 | SLC26A2 | n.843T>C c.611T>C (p.Leu204Ser) c.284T>C (p.Leu95Ser) | |
5 | g.149978263T>G | CA361705356 | SLC26A2 | n.843T>G c.611T>G (p.Leu204Ter) c.284T>G (p.Leu95Ter) | ClinVar dbSNP |
5 | g.149978263T= | CA1590737477 | SLC26A2 | n.843T= c.611T= (p.Leu204=) c.284T= (p.Leu95=) | |
5 | g.149978264A>C | CA361705357 | SLC26A2 | n.844A>C c.612A>C (p.Leu204Phe) c.285A>C (p.Leu95Phe) | |
5 | g.149978264A>G | CA447402170 | SLC26A2 | n.844A>G c.612A>G (p.Leu204=) c.285A>G (p.Leu95=) | |
5 | g.149978264A>T | CA361705358 | SLC26A2 | n.844A>T c.612A>T (p.Leu204Phe) c.285A>T (p.Leu95Phe) | |
5 | g.149978266del | CA2675943469 | SLC26A2 | n.846del c.614del (p.Asn205IlefsTer21) c.287del (p.Asn96IlefsTer21) | gnomAD v4 |
5 | g.149978265_149978269del | CA2675943470 | SLC26A2 | n.845_849del c.613_617del (p.Asn205TyrfsTer7) c.286_290del (p.Asn96TyrfsTer7) | ClinVar gnomAD v4 |
5 | g.149978265A>C | CA361705359 | SLC26A2 | n.845A>C c.613A>C (p.Asn205His) c.286A>C (p.Asn96His) | |
5 | g.149978265A>G | CA361705360 | SLC26A2 | n.845A>G c.613A>G (p.Asn205Asp) c.286A>G (p.Asn96Asp) | |
5 | g.149978265A>T | CA361705361 | SLC26A2 | n.845A>T c.613A>T (p.Asn205Tyr) c.286A>T (p.Asn96Tyr) | |
5 | g.149978266A>C | CA361705364 | SLC26A2 | n.846A>C c.614A>C (p.Asn205Thr) c.287A>C (p.Asn96Thr) | |
5 | g.149978266A>G | CA361705362 | SLC26A2 | n.846A>G c.614A>G (p.Asn205Ser) c.287A>G (p.Asn96Ser) | |
5 | g.149978266A>T | CA361705363 | SLC26A2 | n.846A>T c.614A>T (p.Asn205Ile) c.287A>T (p.Asn96Ile) | |
5 | g.149978267T>A | CA361705365 | SLC26A2 | n.847T>A c.615T>A (p.Asn205Lys) c.288T>A (p.Asn96Lys) | |
5 | g.149978267T>C | CA447402176 | SLC26A2 | n.847T>C c.615T>C (p.Asn205=) c.288T>C (p.Asn96=) | |
5 | g.149978267T>G | CA361705366 | SLC26A2 | n.847T>G c.615T>G (p.Asn205Lys) c.288T>G (p.Asn96Lys) | |
5 | g.149978268C>A | CA361705367 | SLC26A2 | n.848C>A c.616C>A (p.His206Asn) c.289C>A (p.His97Asn) | |
5 | g.149978268C>G | CA361705368 | SLC26A2 | n.848C>G c.616C>G (p.His206Asp) c.289C>G (p.His97Asp) | |
5 | g.149978268C>T | CA361705369 | SLC26A2 | n.848C>T c.616C>T (p.His206Tyr) c.289C>T (p.His97Tyr) | |
5 | g.149978269A= | CA1590737478 | SLC26A2 | n.849A= c.617A= (p.His206=) c.290A= (p.His97=) | |
5 | g.149978269A>C | CA361705370 | SLC26A2 | n.849A>C c.617A>C (p.His206Pro) c.290A>C (p.His97Pro) | |
5 | g.149978269A>G | CA3505282 | SLC26A2 | n.849A>G c.617A>G (p.His206Arg) c.290A>G (p.His97Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978269A>T | CA361705371 | SLC26A2 | n.849A>T c.617A>T (p.His206Leu) c.290A>T (p.His97Leu) | gnomAD v4 |
5 | g.149978270T>A | CA361705372 | SLC26A2 | n.850T>A c.618T>A (p.His206Gln) c.291T>A (p.His97Gln) | |
5 | g.149978270T>C | CA447402182 | SLC26A2 | n.850T>C c.618T>C (p.His206=) c.291T>C (p.His97=) | |
5 | g.149978270T>G | CA3505283 | SLC26A2 | n.850T>G c.618T>G (p.His206Gln) c.291T>G (p.His97Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978270T= | CA1590737479 | SLC26A2 | n.850T= c.618T= (p.His206=) c.291T= (p.His97=) | |
5 | g.149978271A>C | CA361705373 | SLC26A2 | n.851A>C c.619A>C (p.Thr207Pro) c.292A>C (p.Thr98Pro) | |
5 | g.149978271A>G | CA361705374 | SLC26A2 | n.851A>G c.619A>G (p.Thr207Ala) c.292A>G (p.Thr98Ala) | |
5 | g.149978271A>T | CA361705375 | SLC26A2 | n.851A>T c.619A>T (p.Thr207Ser) c.292A>T (p.Thr98Ser) | |
5 | g.149978272C>A | CA361705378 | SLC26A2 | n.852C>A c.620C>A (p.Thr207Lys) c.293C>A (p.Thr98Lys) | |
5 | g.149978272C>G | CA361705377 | SLC26A2 | n.852C>G c.620C>G (p.Thr207Arg) c.293C>G (p.Thr98Arg) | |
5 | g.149978272C>T | CA361705376 | SLC26A2 | n.852C>T c.620C>T (p.Thr207Ile) c.293C>T (p.Thr98Ile) | |
5 | g.149978273A>C | CA447402189 | SLC26A2 | n.853A>C c.621A>C (p.Thr207=) c.294A>C (p.Thr98=) | |
5 | g.149978273A>G | CA447402192 | SLC26A2 | n.853A>G c.621A>G (p.Thr207=) c.294A>G (p.Thr98=) | |
5 | g.149978273A>T | CA447402194 | SLC26A2 | n.853A>T c.621A>T (p.Thr207=) c.294A>T (p.Thr98=) | |
5 | g.149978274T>A | CA361705380 | SLC26A2 | n.854T>A c.622T>A (p.Ser208Thr) c.295T>A (p.Ser99Thr) | |
5 | g.149978274T>C | CA361705379 | SLC26A2 | n.854T>C c.622T>C (p.Ser208Pro) c.295T>C (p.Ser99Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978274T>G | CA361705381 | SLC26A2 | n.854T>G c.622T>G (p.Ser208Ala) c.295T>G (p.Ser99Ala) | |
5 | g.149978274T= | CA1590737480 | SLC26A2 | n.854T= c.622T= (p.Ser208=) c.295T= (p.Ser99=) | |
5 | g.149978275C>A | CA361705382 | SLC26A2 | n.855C>A c.623C>A (p.Ser208Ter) c.296C>A (p.Ser99Ter) | |
5 | g.149978275C>G | CA361705383 | SLC26A2 | n.855C>G c.623C>G (p.Ser208Ter) c.296C>G (p.Ser99Ter) | |
5 | g.149978275C>T | CA361705384 | SLC26A2 | n.855C>T c.623C>T (p.Ser208Leu) c.296C>T (p.Ser99Leu) | dbSNP gnomAD v4 COSMIC |
5 | g.149978276A>C | CA447402201 | SLC26A2 | n.856A>C c.624A>C (p.Ser208=) c.297A>C (p.Ser99=) | |
5 | g.149978276A>G | CA447402206 | SLC26A2 | n.856A>G c.624A>G (p.Ser208=) c.297A>G (p.Ser99=) | |
5 | g.149978276A>T | CA447402207 | SLC26A2 | n.856A>T c.624A>T (p.Ser208=) c.297A>T (p.Ser99=) | |
5 | g.149978277G>A | CA361705385 | SLC26A2 | n.857G>A c.625G>A (p.Asp209Asn) c.298G>A (p.Asp100Asn) | |
5 | g.149978277G>C | CA361705386 | SLC26A2 | n.857G>C c.625G>C (p.Asp209His) c.298G>C (p.Asp100His) | |
5 | g.149978277G>T | CA361705387 | SLC26A2 | n.857G>T c.625G>T (p.Asp209Tyr) c.298G>T (p.Asp100Tyr) | |
5 | g.149978278A>C | CA361705388 | SLC26A2 | n.858A>C c.626A>C (p.Asp209Ala) c.299A>C (p.Asp100Ala) | |
5 | g.149978278A>G | CA361705389 | SLC26A2 | n.858A>G c.626A>G (p.Asp209Gly) c.299A>G (p.Asp100Gly) | gnomAD v4 |
5 | g.149978278A>T | CA361705390 | SLC26A2 | n.858A>T c.626A>T (p.Asp209Val) c.299A>T (p.Asp100Val) | |
5 | g.149978279C>A | CA3505284 | SLC26A2 | n.859C>A c.627C>A (p.Asp209Glu) c.300C>A (p.Asp100Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978279C= | CA1590737481 | SLC26A2 | n.859C= c.627C= (p.Asp209=) c.300C= (p.Asp100=) | |
5 | g.149978279C>G | CA361705391 | SLC26A2 | n.859C>G c.627C>G (p.Asp209Glu) c.300C>G (p.Asp100Glu) | |
5 | g.149978279C>T | CA447402213 | SLC26A2 | n.859C>T c.627C>T (p.Asp209=) c.300C>T (p.Asp100=) | ClinVar gnomAD v4 |
5 | g.149978280A= | CA1590737482 | SLC26A2 | n.860A= c.628A= (p.Arg210=) c.301A= (p.Arg101=) | |
5 | g.149978280A>C | CA447402214 | SLC26A2 | n.860A>C c.628A>C (p.Arg210=) c.301A>C (p.Arg101=) | |
5 | g.149978280A>G | CA361705392 | SLC26A2 | n.860A>G c.628A>G (p.Arg210Gly) c.301A>G (p.Arg101Gly) | |
5 | g.149978280A>T | CA361705393 | SLC26A2 | n.860A>T c.628A>T (p.Arg210Trp) c.301A>T (p.Arg101Trp) | |
5 | g.149978280_149978281insCTGTT | CA563955679 | SLC26A2 | n.860_861insCTGTT c.628_629insCTGTT (p.Arg210ThrfsTer18) c.301_302insCTGTT (p.Arg101ThrfsTer18) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978281G>A | CA361705394 | SLC26A2 | n.861G>A c.629G>A (p.Arg210Lys) c.302G>A (p.Arg101Lys) | gnomAD v4 |
5 | g.149978281G>C | CA361705396 | SLC26A2 | n.861G>C c.629G>C (p.Arg210Thr) c.302G>C (p.Arg101Thr) | |
5 | g.149978281G>T | CA361705395 | SLC26A2 | n.861G>T c.629G>T (p.Arg210Met) c.302G>T (p.Arg101Met) | |
5 | g.149978282G>A | CA129082727 | SLC26A2 | n.862G>A c.630G>A (p.Arg210=) c.303G>A (p.Arg101=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978282G>C | CA361705397 | SLC26A2 | n.862G>C c.630G>C (p.Arg210Ser) c.303G>C (p.Arg101Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978282G= | CA1590737483 | SLC26A2 | n.862G= c.630G= (p.Arg210=) c.303G= (p.Arg101=) | |
5 | g.149978282G>T | CA361705398 | SLC26A2 | n.862G>T c.630G>T (p.Arg210Ser) c.303G>T (p.Arg101Ser) | |
5 | g.149978283A= | CA1590737484 | SLC26A2 | n.863A= c.631A= (p.Ile211=) c.304A= (p.Ile102=) | |
5 | g.149978283A>C | CA361705399 | SLC26A2 | n.863A>C c.631A>C (p.Ile211Leu) c.304A>C (p.Ile102Leu) | |
5 | g.149978283A>G | CA3505285 | SLC26A2 | n.863A>G c.631A>G (p.Ile211Val) c.304A>G (p.Ile102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978283A>T | CA129082731 | SLC26A2 | n.863A>T c.631A>T (p.Ile211Leu) c.304A>T (p.Ile102Leu) | dbSNP gnomAD v4 |
5 | g.149978284T>A | CA361705400 | SLC26A2 | n.864T>A c.632T>A (p.Ile211Lys) c.305T>A (p.Ile102Lys) | |
5 | g.149978284T>C | CA361705401 | SLC26A2 | n.864T>C c.632T>C (p.Ile211Thr) c.305T>C (p.Ile102Thr) | |
5 | g.149978284T>G | CA361705402 | SLC26A2 | n.864T>G c.632T>G (p.Ile211Arg) c.305T>G (p.Ile102Arg) | |
5 | g.149978285A= | CA1590737485 | SLC26A2 | n.865A= c.633A= (p.Ile211=) c.306A= (p.Ile102=) | |
5 | g.149978285A>C | CA447402228 | SLC26A2 | n.865A>C c.633A>C (p.Ile211=) c.306A>C (p.Ile102=) | |
5 | g.149978285A>G | CA361705403 | SLC26A2 | n.865A>G c.633A>G (p.Ile211Met) c.306A>G (p.Ile102Met) | |
5 | g.149978285A>T | CA447402230 | SLC26A2 | n.865A>T c.633A>T (p.Ile211=) c.306A>T (p.Ile102=) | |
5 | g.149978285_149978286insGCAAC | CA563955680 | SLC26A2 | n.865_866insGCAAC c.633_634insGCAAC (p.Cys212AlafsTer16) c.306_307insGCAAC (p.Cys103AlafsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978286T>A | CA361705405 | SLC26A2 | n.866T>A c.634T>A (p.Cys212Ser) c.307T>A (p.Cys103Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978286T>C | CA361705406 | SLC26A2 | n.866T>C c.634T>C (p.Cys212Arg) c.307T>C (p.Cys103Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978286T>G | CA361705404 | SLC26A2 | n.866T>G c.634T>G (p.Cys212Gly) c.307T>G (p.Cys103Gly) | |
5 | g.149978286T= | CA1590737486 | SLC26A2 | n.866T= c.634T= (p.Cys212=) c.307T= (p.Cys103=) |