Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19962679_19962821del | CA1024175389 | COMT | c.153_289+6del c.3_139+6del n.1_137+6del n.349_491del c.267_403+6del c.564_700+6del | gnomAD v3 gnomAD v4 |
22 | g.19962745G>A | CA10104488 | COMT | c.219G>A (p.Gln73=) c.69G>A (p.Gln23=) n.67G>A n.415G>A c.333G>A (p.Gln111=) c.630G>A (p.Gln210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.19962745G>C | CA410688825 | COMT | c.219G>C (p.Gln73His) c.69G>C (p.Gln23His) n.67G>C n.415G>C c.333G>C (p.Gln111His) c.630G>C (p.Gln210His) | gnomAD v4 |
22 | g.19962745G= | CA2396125270 | COMT | c.219G= (p.Gln73=) c.69G= (p.Gln23=) n.67G= n.415G= c.333G= (p.Gln111=) c.630G= (p.Gln210=) | |
22 | g.19962745G>T | CA410688827 | COMT | c.219G>T (p.Gln73His) c.69G>T (p.Gln23His) n.67G>T n.415G>T c.333G>T (p.Gln111His) c.630G>T (p.Gln210His) | |
22 | g.19962746A>C | CA410688830 | COMT | c.220A>C (p.Ser74Arg) c.70A>C (p.Ser24Arg) n.68A>C n.416A>C c.334A>C (p.Ser112Arg) c.631A>C (p.Ser211Arg) | |
22 | g.19962746A>G | CA410688832 | COMT | c.220A>G (p.Ser74Gly) c.70A>G (p.Ser24Gly) n.68A>G n.416A>G c.334A>G (p.Ser112Gly) c.631A>G (p.Ser211Gly) | |
22 | g.19962746A>T | CA410688834 | COMT | c.220A>T (p.Ser74Cys) c.70A>T (p.Ser24Cys) n.68A>T n.416A>T c.334A>T (p.Ser112Cys) c.631A>T (p.Ser211Cys) | |
22 | g.19962747G>A | CA410688836 | COMT | c.221G>A (p.Ser74Asn) c.71G>A (p.Ser24Asn) n.69G>A n.417G>A c.335G>A (p.Ser112Asn) c.632G>A (p.Ser211Asn) | |
22 | g.19962747G>C | CA410688838 | COMT | c.221G>C (p.Ser74Thr) c.71G>C (p.Ser24Thr) n.69G>C n.417G>C c.335G>C (p.Ser112Thr) c.632G>C (p.Ser211Thr) | |
22 | g.19962747G>T | CA410688840 | COMT | c.221G>T (p.Ser74Ile) c.71G>T (p.Ser24Ile) n.69G>T n.417G>T c.335G>T (p.Ser112Ile) c.632G>T (p.Ser211Ile) | gnomAD v4 |
22 | g.19962748C>A | CA410688842 | COMT | c.222C>A (p.Ser74Arg) c.72C>A (p.Ser24Arg) n.70C>A n.418C>A c.336C>A (p.Ser112Arg) c.633C>A (p.Ser211Arg) | gnomAD v4 |
22 | g.19962748C= | CA2396125271 | COMT | c.222C= (p.Ser74=) c.72C= (p.Ser24=) n.70C= n.418C= c.336C= (p.Ser112=) c.633C= (p.Ser211=) | |
22 | g.19962748C>G | CA410688844 | COMT | c.222C>G (p.Ser74Arg) c.72C>G (p.Ser24Arg) n.70C>G n.418C>G c.336C>G (p.Ser112Arg) c.633C>G (p.Ser211Arg) | |
22 | g.19962748C>T | CA513688117 | COMT | c.222C>T (p.Ser74=) c.72C>T (p.Ser24=) n.70C>T n.418C>T c.336C>T (p.Ser112=) c.633C>T (p.Ser211=) | dbSNP gnomAD v4 |
22 | g.19962749G>A | CA322120820 | COMT | c.223G>A (p.Val75Met) c.73G>A (p.Val25Met) n.71G>A n.419G>A c.337G>A (p.Val113Met) c.634G>A (p.Val212Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962749G>C | CA410688847 | COMT | c.223G>C (p.Val75Leu) c.73G>C (p.Val25Leu) n.71G>C n.419G>C c.337G>C (p.Val113Leu) c.634G>C (p.Val212Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962749G= | CA2396125272 | COMT | c.223G= (p.Val75=) c.73G= (p.Val25=) n.71G= n.419G= c.337G= (p.Val113=) c.634G= (p.Val212=) | |
22 | g.19962749G>T | CA410688848 | COMT | c.223G>T (p.Val75Leu) c.73G>T (p.Val25Leu) n.71G>T n.419G>T c.337G>T (p.Val113Leu) c.634G>T (p.Val212Leu) | |
22 | g.19962750T>A | CA410688850 | COMT | c.224T>A (p.Val75Glu) c.74T>A (p.Val25Glu) n.72T>A n.420T>A c.338T>A (p.Val113Glu) c.635T>A (p.Val212Glu) | |
22 | g.19962750T>C | CA10104489 | COMT | c.224T>C (p.Val75Ala) c.74T>C (p.Val25Ala) n.72T>C n.420T>C c.338T>C (p.Val113Ala) c.635T>C (p.Val212Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962750T>G | CA410688849 | COMT | c.224T>G (p.Val75Gly) c.74T>G (p.Val25Gly) n.72T>G n.420T>G c.338T>G (p.Val113Gly) c.635T>G (p.Val212Gly) | |
22 | g.19962750T= | CA2396125273 | COMT | c.224T= (p.Val75=) c.74T= (p.Val25=) n.72T= n.420T= c.338T= (p.Val113=) c.635T= (p.Val212=) | |
22 | g.19962751G>A | CA513688129 | COMT | c.225G>A (p.Val75=) c.75G>A (p.Val25=) n.73G>A n.421G>A c.339G>A (p.Val113=) c.636G>A (p.Val212=) | |
22 | g.19962751G>C | CA513688128 | COMT | c.225G>C (p.Val75=) c.75G>C (p.Val25=) n.73G>C n.421G>C c.339G>C (p.Val113=) c.636G>C (p.Val212=) | |
22 | g.19962751G>T | CA513688127 | COMT | c.225G>T (p.Val75=) c.75G>T (p.Val25=) n.73G>T n.421G>T c.339G>T (p.Val113=) c.636G>T (p.Val212=) | |
22 | g.19962752C>A | CA410688852 | COMT | c.226C>A (p.Leu76Met) c.76C>A (p.Leu26Met) n.74C>A n.422C>A c.340C>A (p.Leu114Met) c.637C>A (p.Leu213Met) | |
22 | g.19962752C>G | CA410688853 | COMT | c.226C>G (p.Leu76Val) c.76C>G (p.Leu26Val) n.74C>G n.422C>G c.340C>G (p.Leu114Val) c.637C>G (p.Leu213Val) | |
22 | g.19962752C>T | CA513688133 | COMT | c.226C>T (p.Leu76=) c.76C>T (p.Leu26=) n.74C>T n.422C>T c.340C>T (p.Leu114=) c.637C>T (p.Leu213=) | |
22 | g.19962753T>A | CA10104490 | COMT | c.227T>A (p.Leu76Gln) c.77T>A (p.Leu26Gln) n.75T>A n.423T>A c.341T>A (p.Leu114Gln) c.638T>A (p.Leu213Gln) | dbSNP ExAC gnomAD v2 |
22 | g.19962753T>C | CA410688857 | COMT | c.227T>C (p.Leu76Pro) c.77T>C (p.Leu26Pro) n.75T>C n.423T>C c.341T>C (p.Leu114Pro) c.638T>C (p.Leu213Pro) | |
22 | g.19962753T>G | CA410688860 | COMT | c.227T>G (p.Leu76Arg) c.77T>G (p.Leu26Arg) n.75T>G n.423T>G c.341T>G (p.Leu114Arg) c.638T>G (p.Leu213Arg) | |
22 | g.19962753T= | CA2396125274 | COMT | c.227T= (p.Leu76=) c.77T= (p.Leu26=) n.75T= n.423T= c.341T= (p.Leu114=) c.638T= (p.Leu213=) | |
22 | g.19962754G>A | CA513688140 | COMT | c.228G>A (p.Leu76=) c.78G>A (p.Leu26=) n.76G>A n.424G>A c.342G>A (p.Leu114=) c.639G>A (p.Leu213=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19962754G>C | CA513688139 | COMT | c.228G>C (p.Leu76=) c.78G>C (p.Leu26=) n.76G>C n.424G>C c.342G>C (p.Leu114=) c.639G>C (p.Leu213=) | |
22 | g.19962754G= | CA2396125275 | COMT | c.228G= (p.Leu76=) c.78G= (p.Leu26=) n.76G= n.424G= c.342G= (p.Leu114=) c.639G= (p.Leu213=) | |
22 | g.19962754G>T | CA513688138 | COMT | c.228G>T (p.Leu76=) c.78G>T (p.Leu26=) n.76G>T n.424G>T c.342G>T (p.Leu114=) c.639G>T (p.Leu213=) | |
22 | g.19962755G>A | CA410688862 | COMT | c.229G>A (p.Glu77Lys) c.79G>A (p.Glu27Lys) n.77G>A n.425G>A c.343G>A (p.Glu115Lys) c.640G>A (p.Glu214Lys) | dbSNP gnomAD v4 |
22 | g.19962755G>C | CA410688864 | COMT | c.229G>C (p.Glu77Gln) c.79G>C (p.Glu27Gln) n.77G>C n.425G>C c.343G>C (p.Glu115Gln) c.640G>C (p.Glu214Gln) | |
22 | g.19962755G= | CA2396125276 | COMT | c.229G= (p.Glu77=) c.79G= (p.Glu27=) n.77G= n.425G= c.343G= (p.Glu115=) c.640G= (p.Glu214=) | |
22 | g.19962755G>T | CA410688866 | COMT | c.229G>T (p.Glu77Ter) c.79G>T (p.Glu27Ter) n.77G>T n.425G>T c.343G>T (p.Glu115Ter) c.640G>T (p.Glu214Ter) | |
22 | g.19962756A= | CA2396125277 | COMT | c.230A= (p.Glu77=) c.80A= (p.Glu27=) n.78A= n.426A= c.344A= (p.Glu115=) c.641A= (p.Glu214=) | |
22 | g.19962756A>C | CA410688869 | COMT | c.230A>C (p.Glu77Ala) c.80A>C (p.Glu27Ala) n.78A>C n.426A>C c.344A>C (p.Glu115Ala) c.641A>C (p.Glu214Ala) | |
22 | g.19962756A>G | CA410688870 | COMT | c.230A>G (p.Glu77Gly) c.80A>G (p.Glu27Gly) n.78A>G n.426A>G c.344A>G (p.Glu115Gly) c.641A>G (p.Glu214Gly) | dbSNP gnomAD v4 |
22 | g.19962756A>T | CA410688872 | COMT | c.230A>T (p.Glu77Val) c.80A>T (p.Glu27Val) n.78A>T n.426A>T c.344A>T (p.Glu115Val) c.641A>T (p.Glu214Val) | |
22 | g.19962757G>A | CA513688152 | COMT | c.231G>A (p.Glu77=) c.81G>A (p.Glu27=) n.79G>A n.427G>A c.345G>A (p.Glu115=) c.642G>A (p.Glu214=) | ClinVar dbSNP |
22 | g.19962757G>C | CA410688873 | COMT | c.231G>C (p.Glu77Asp) c.81G>C (p.Glu27Asp) n.79G>C n.427G>C c.345G>C (p.Glu115Asp) c.642G>C (p.Glu214Asp) | |
22 | g.19962757G= | CA2396125278 | COMT | c.231G= (p.Glu77=) c.81G= (p.Glu27=) n.79G= n.427G= c.345G= (p.Glu115=) c.642G= (p.Glu214=) | |
22 | g.19962757G>T | CA410688875 | COMT | c.231G>T (p.Glu77Asp) c.81G>T (p.Glu27Asp) n.79G>T n.427G>T c.345G>T (p.Glu115Asp) c.642G>T (p.Glu214Asp) | |
22 | g.19962758G>A | CA410688879 | COMT | c.232G>A (p.Ala78Thr) c.82G>A (p.Ala28Thr) n.80G>A n.428G>A c.346G>A (p.Ala116Thr) c.643G>A (p.Ala215Thr) | dbSNP gnomAD v2 gnomAD v4 |