Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149978184C>A | CA447402055 | SLC26A2 | n.764C>A c.532C>A (p.Arg178=) c.205C>A (p.Arg69=) | |
5 | g.149978184C= | CA1590737440 | SLC26A2 | n.764C= c.532C= (p.Arg178=) c.205C= (p.Arg69=) | |
5 | g.149978184C>G | CA361705187 | SLC26A2 | n.764C>G c.532C>G (p.Arg178Gly) c.205C>G (p.Arg69Gly) | |
5 | g.149978184C>T | CA259839 | SLC26A2 | n.764C>T c.532C>T (p.Arg178Ter) c.205C>T (p.Arg69Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978185G>A | CA3505268 | SLC26A2 | n.765G>A c.533G>A (p.Arg178Gln) c.206G>A (p.Arg69Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978185G>C | CA361705188 | SLC26A2 | n.765G>C c.533G>C (p.Arg178Pro) c.206G>C (p.Arg69Pro) | |
5 | g.149978185G= | CA1590737441 | SLC26A2 | n.765G= c.533G= (p.Arg178=) c.206G= (p.Arg69=) | |
5 | g.149978185G>T | CA361705189 | SLC26A2 | n.765G>T c.533G>T (p.Arg178Leu) c.206G>T (p.Arg69Leu) | gnomAD v4 |
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.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 |