Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19962679_19962821delCA1024175389COMTc.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
22g.19962745G>ACA10104488COMTc.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
22g.19962745G>CCA410688825COMTc.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
22g.19962745G=CA2396125270COMTc.219G= (p.Gln73=)
c.69G= (p.Gln23=)
n.67G=
n.415G=
c.333G= (p.Gln111=)
c.630G= (p.Gln210=)
22g.19962745G>TCA410688827COMTc.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)
22g.19962746A>CCA410688830COMTc.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)
22g.19962746A>GCA410688832COMTc.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)
22g.19962746A>TCA410688834COMTc.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)
22g.19962747G>ACA410688836COMTc.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)
22g.19962747G>CCA410688838COMTc.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)
22g.19962747G>TCA410688840COMTc.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
22g.19962748C>ACA410688842COMTc.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
22g.19962748C=CA2396125271COMTc.222C= (p.Ser74=)
c.72C= (p.Ser24=)
n.70C=
n.418C=
c.336C= (p.Ser112=)
c.633C= (p.Ser211=)
22g.19962748C>GCA410688844COMTc.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)
22g.19962748C>TCA513688117COMTc.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
22g.19962749G>ACA322120820COMTc.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
22g.19962749G>CCA410688847COMTc.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
22g.19962749G=CA2396125272COMTc.223G= (p.Val75=)
c.73G= (p.Val25=)
n.71G=
n.419G=
c.337G= (p.Val113=)
c.634G= (p.Val212=)
22g.19962749G>TCA410688848COMTc.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)
22g.19962750T>ACA410688850COMTc.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)
22g.19962750T>CCA10104489COMTc.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
22g.19962750T>GCA410688849COMTc.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)
22g.19962750T=CA2396125273COMTc.224T= (p.Val75=)
c.74T= (p.Val25=)
n.72T=
n.420T=
c.338T= (p.Val113=)
c.635T= (p.Val212=)
22g.19962751G>ACA513688129COMTc.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=)
22g.19962751G>CCA513688128COMTc.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=)
22g.19962751G>TCA513688127COMTc.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=)
22g.19962752C>ACA410688852COMTc.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)
22g.19962752C>GCA410688853COMTc.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)
22g.19962752C>TCA513688133COMTc.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=)
22g.19962753T>ACA10104490COMTc.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
22g.19962753T>CCA410688857COMTc.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)
22g.19962753T>GCA410688860COMTc.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)
22g.19962753T=CA2396125274COMTc.227T= (p.Leu76=)
c.77T= (p.Leu26=)
n.75T=
n.423T=
c.341T= (p.Leu114=)
c.638T= (p.Leu213=)
22g.19962754G>ACA513688140COMTc.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
22g.19962754G>CCA513688139COMTc.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=)
22g.19962754G=CA2396125275COMTc.228G= (p.Leu76=)
c.78G= (p.Leu26=)
n.76G=
n.424G=
c.342G= (p.Leu114=)
c.639G= (p.Leu213=)
22g.19962754G>TCA513688138COMTc.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=)
22g.19962755G>ACA410688862COMTc.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
22g.19962755G>CCA410688864COMTc.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)
22g.19962755G=CA2396125276COMTc.229G= (p.Glu77=)
c.79G= (p.Glu27=)
n.77G=
n.425G=
c.343G= (p.Glu115=)
c.640G= (p.Glu214=)
22g.19962755G>TCA410688866COMTc.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)
22g.19962756A=CA2396125277COMTc.230A= (p.Glu77=)
c.80A= (p.Glu27=)
n.78A=
n.426A=
c.344A= (p.Glu115=)
c.641A= (p.Glu214=)
22g.19962756A>CCA410688869COMTc.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)
22g.19962756A>GCA410688870COMTc.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
22g.19962756A>TCA410688872COMTc.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)
22g.19962757G>ACA513688152COMTc.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
22g.19962757G>CCA410688873COMTc.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)
22g.19962757G=CA2396125278COMTc.231G= (p.Glu77=)
c.81G= (p.Glu27=)
n.79G=
n.427G=
c.345G= (p.Glu115=)
c.642G= (p.Glu214=)
22g.19962757G>TCA410688875COMTc.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)
22g.19962758G>ACA410688879COMTc.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

Number of alleles fetched