Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.6718324T>A | CA403645183 | C3 | n.417A>T c.233A>T (p.Lys78Met) c.356A>T (p.Lys119Met) | |
19 | g.6718324T>C | CA403645184 | C3 | n.417A>G c.233A>G (p.Lys78Arg) c.356A>G (p.Lys119Arg) | |
19 | g.6718324T>G | CA403645185 | C3 | n.417A>C c.233A>C (p.Lys78Thr) c.356A>C (p.Lys119Thr) | |
19 | g.6718325T>A | CA403645186 | C3 | n.416A>T c.232A>T (p.Lys78Ter) c.355A>T (p.Lys119Ter) | |
19 | g.6718325T>C | CA403645187 | C3 | n.416A>G c.232A>G (p.Lys78Glu) c.355A>G (p.Lys119Glu) | |
19 | g.6718325T>G | CA403645188 | C3 | n.416A>C c.232A>C (p.Lys78Gln) c.355A>C (p.Lys119Gln) | |
19 | g.6718326C>A | CA403645190 | C3 | n.415G>T c.231G>T (p.Glu77Asp) c.354G>T (p.Glu118Asp) | |
19 | g.6718326C>G | CA403645189 | C3 | n.415G>C c.231G>C (p.Glu77Asp) c.354G>C (p.Glu118Asp) | |
19 | g.6718326C>T | CA505125177 | C3 | n.415G>A c.231G>A (p.Glu77=) c.354G>A (p.Glu118=) | gnomAD v4 |
19 | g.6718327T>A | CA403645191 | C3 | n.414A>T c.230A>T (p.Glu77Val) c.353A>T (p.Glu118Val) | |
19 | g.6718327T>C | CA403645192 | C3 | n.414A>G c.230A>G (p.Glu77Gly) c.353A>G (p.Glu118Gly) | |
19 | g.6718327T>G | CA403645193 | C3 | n.414A>C c.230A>C (p.Glu77Ala) c.353A>C (p.Glu118Ala) | |
19 | g.6718328C>A | CA403645194 | C3 | n.413G>T c.229G>T (p.Glu77Ter) c.352G>T (p.Glu118Ter) | |
19 | g.6718328C>G | CA403645195 | C3 | n.413G>C c.229G>C (p.Glu77Gln) c.352G>C (p.Glu118Gln) | |
19 | g.6718328C>T | CA403645196 | C3 | n.413G>A c.229G>A (p.Glu77Lys) c.352G>A (p.Glu118Lys) | |
19 | g.6718329C>A | CA505125179 | C3 | n.412G>T c.228G>T (p.Val76=) c.351G>T (p.Val117=) | |
19 | g.6718329C>G | CA505125180 | C3 | n.412G>C c.228G>C (p.Val76=) c.351G>C (p.Val117=) | |
19 | g.6718329C>T | CA505125178 | C3 | n.412G>A c.228G>A (p.Val76=) c.351G>A (p.Val117=) | gnomAD v4 |
19 | g.6718330A>C | CA403645197 | C3 | n.411T>G c.227T>G (p.Val76Gly) c.350T>G (p.Val117Gly) | |
19 | g.6718330A>G | CA403645199 | C3 | n.411T>C c.227T>C (p.Val76Ala) c.350T>C (p.Val117Ala) | |
19 | g.6718330A>T | CA403645198 | C3 | n.411T>A c.227T>A (p.Val76Glu) c.350T>A (p.Val117Glu) | |
19 | g.6718331C>A | CA403645200 | C3 | n.410G>T c.226G>T (p.Val76Leu) c.349G>T (p.Val117Leu) | |
19 | g.6718331C>G | CA403645201 | C3 | n.410G>C c.226G>C (p.Val76Leu) c.349G>C (p.Val117Leu) | |
19 | g.6718331C>T | CA403645202 | C3 | n.410G>A c.226G>A (p.Val76Met) c.349G>A (p.Val117Met) | |
19 | g.6718332C>A | CA505125183 | C3 | n.409G>T c.225G>T (p.Val75=) c.348G>T (p.Val116=) | gnomAD v4 |
19 | g.6718332C>G | CA505125181 | C3 | n.409G>C c.225G>C (p.Val75=) c.348G>C (p.Val116=) | |
19 | g.6718332C>T | CA505125182 | C3 | n.409G>A c.225G>A (p.Val75=) c.348G>A (p.Val116=) | |
19 | g.6718333A>C | CA403645203 | C3 | n.408T>G c.224T>G (p.Val75Gly) c.347T>G (p.Val116Gly) | |
19 | g.6718333A>G | CA403645204 | C3 | n.408T>C c.224T>C (p.Val75Ala) c.347T>C (p.Val116Ala) | gnomAD v4 |
19 | g.6718333A>T | CA403645205 | C3 | n.408T>A c.224T>A (p.Val75Glu) c.347T>A (p.Val116Glu) | |
19 | g.6718334C>A | CA403645206 | C3 | n.407G>T c.223G>T (p.Val75Leu) c.346G>T (p.Val116Leu) | |
19 | g.6718334C>G | CA403645207 | C3 | n.407G>C c.223G>C (p.Val75Leu) c.346G>C (p.Val116Leu) | |
19 | g.6718334C>T | CA403645208 | C3 | n.407G>A c.223G>A (p.Val75Met) c.346G>A (p.Val116Met) | ClinVar |
19 | g.6718335T>A | CA403645209 | C3 | n.406A>T c.222A>T (p.Gln74His) c.345A>T (p.Gln115His) | gnomAD v4 |
19 | g.6718335T>C | CA505125184 | C3 | n.406A>G c.222A>G (p.Gln74=) c.345A>G (p.Gln115=) | |
19 | g.6718335T>G | CA403645210 | C3 | n.406A>C c.222A>C (p.Gln74His) c.345A>C (p.Gln115His) | |
19 | g.6718336T>A | CA403645213 | C3 | n.405A>T c.221A>T (p.Gln74Leu) c.344A>T (p.Gln115Leu) | |
19 | g.6718336T>C | CA403645212 | C3 | n.405A>G c.221A>G (p.Gln74Arg) c.344A>G (p.Gln115Arg) | |
19 | g.6718336T>G | CA403645211 | C3 | n.405A>C c.221A>C (p.Gln74Pro) c.344A>C (p.Gln115Pro) | |
19 | g.6718337G>A | CA403645214 | C3 | n.404C>T c.220C>T (p.Gln74Ter) c.343C>T (p.Gln115Ter) | |
19 | g.6718337G>C | CA403645216 | C3 | n.404C>G c.220C>G (p.Gln74Glu) c.343C>G (p.Gln115Glu) | |
19 | g.6718337G= | CA2320570628 | C3 | n.404C= c.220C= (p.Gln74=) c.343C= (p.Gln115=) | |
19 | g.6718337G>T | CA403645215 | C3 | n.404C>A c.220C>A (p.Gln74Lys) c.343C>A (p.Gln115Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6718338G>A | CA505125185 | C3 | n.403C>T c.219C>T (p.Thr73=) c.342C>T (p.Thr114=) | dbSNP gnomAD v4 |
19 | g.6718338G>C | CA505125186 | C3 | n.403C>G c.219C>G (p.Thr73=) c.342C>G (p.Thr114=) | gnomAD v4 |
19 | g.6718338G= | CA2320570629 | C3 | n.403C= c.219C= (p.Thr73=) c.342C= (p.Thr114=) | |
19 | g.6718338G>T | CA505125187 | C3 | n.403C>A c.219C>A (p.Thr73=) c.342C>A (p.Thr114=) | |
19 | g.6718339G>A | CA9129842 | C3 | n.402C>T c.218C>T (p.Thr73Ile) c.341C>T (p.Thr114Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6718339G>C | CA403645217 | C3 | n.402C>G c.218C>G (p.Thr73Ser) c.341C>G (p.Thr114Ser) | |
19 | g.6718339G= | CA2320570630 | C3 | n.402C= c.218C= (p.Thr73=) c.341C= (p.Thr114=) |