Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19964181T>ACA410689657COMTc.497T>A (p.Val166Asp)
c.347T>A (p.Val116Asp)
c.611T>A (p.Val204Asp)
c.908T>A (p.Val303Asp)
c.555T>A (p.Gly185=)
n.75T>A
n.235T>A
22g.19964181T>CCA410689658COMTc.497T>C (p.Val166Ala)
c.347T>C (p.Val116Ala)
c.611T>C (p.Val204Ala)
c.908T>C (p.Val303Ala)
c.555T>C (p.Gly185=)
n.75T>C
n.235T>C
gnomAD
22g.19964181T>GCA410689659COMTc.497T>G (p.Val166Gly)
c.347T>G (p.Val116Gly)
c.611T>G (p.Val204Gly)
c.908T>G (p.Val303Gly)
c.555T>G (p.Gly185=)
n.75T>G
n.235T>G
22g.19964182T>ACA513688279COMTc.498T>A (p.Val166=)
c.348T>A (p.Val116=)
c.612T>A (p.Val204=)
c.909T>A (p.Val303=)
c.556T>A (p.Trp186Arg)
n.76T>A
n.236T>A
22g.19964182T>CCA513688272COMTc.498T>C (p.Val166=)
c.348T>C (p.Val116=)
c.612T>C (p.Val204=)
c.909T>C (p.Val303=)
c.556T>C (p.Trp186Arg)
n.76T>C
n.236T>C
22g.19964182T>GCA513688268COMTc.498T>G (p.Val166=)
c.348T>G (p.Val116=)
c.612T>G (p.Val204=)
c.909T>G (p.Val303=)
c.556T>G (p.Trp186Gly)
n.76T>G
n.236T>G
22g.19964183G>ACA410689660COMTc.499G>A (p.Gly167Arg)
c.349G>A (p.Gly117Arg)
c.613G>A (p.Gly205Arg)
c.910G>A (p.Gly304Arg)
c.557G>A (p.Trp186Ter)
n.77G>A
n.237G>A
22g.19964183G>CCA410689661COMTc.499G>C (p.Gly167Arg)
c.349G>C (p.Gly117Arg)
c.613G>C (p.Gly205Arg)
c.910G>C (p.Gly304Arg)
c.557G>C (p.Trp186Ser)
n.77G>C
n.237G>C
22g.19964183G>TCA410689662COMTc.499G>T (p.Gly167Ter)
c.349G>T (p.Gly117Ter)
c.613G>T (p.Gly205Ter)
c.910G>T (p.Gly304Ter)
c.557G>T (p.Trp186Leu)
n.77G>T
n.237G>T
22g.19964184G>ACA410689664COMTc.500G>A (p.Gly167Glu)
c.350G>A (p.Gly117Glu)
c.614G>A (p.Gly205Glu)
c.911G>A (p.Gly304Glu)
c.558G>A (p.Trp186Ter)
n.78G>A
n.238G>A
gnomAD
22g.19964184G>CCA410689665COMTc.500G>C (p.Gly167Ala)
c.350G>C (p.Gly117Ala)
c.614G>C (p.Gly205Ala)
c.911G>C (p.Gly304Ala)
c.558G>C (p.Trp186Cys)
n.78G>C
n.238G>C
22g.19964184G>TCA410689663COMTc.500G>T (p.Gly167Val)
c.350G>T (p.Gly117Val)
c.614G>T (p.Gly205Val)
c.911G>T (p.Gly304Val)
c.558G>T (p.Trp186Cys)
n.78G>T
n.238G>T
22g.19964185A>CCA10104632COMTc.501A>C (p.Gly167=)
c.351A>C (p.Gly117=)
c.615A>C (p.Gly205=)
c.912A>C (p.Gly304=)
c.559A>C (p.Ser187Arg)
n.79A>C
n.239A>C
dbSNP ExAC gnomAD
22g.19964185A>GCA513688288COMTc.501A>G (p.Gly167=)
c.351A>G (p.Gly117=)
c.615A>G (p.Gly205=)
c.912A>G (p.Gly304=)
c.559A>G (p.Ser187Gly)
n.79A>G
n.239A>G
22g.19964185A>TCA513688284COMTc.501A>T (p.Gly167=)
c.351A>T (p.Gly117=)
c.615A>T (p.Gly205=)
c.912A>T (p.Gly304=)
c.559A>T (p.Ser187Cys)
n.79A>T
n.239A>T
22g.19964186G>ACA410689666COMTc.502G>A (p.Ala168Thr)
c.352G>A (p.Ala118Thr)
c.616G>A (p.Ala206Thr)
c.913G>A (p.Ala305Thr)
c.560G>A (p.Ser187Asn)
n.80G>A
n.240G>A
22g.19964186G>CCA410689667COMTc.502G>C (p.Ala168Pro)
c.352G>C (p.Ala118Pro)
c.616G>C (p.Ala206Pro)
c.913G>C (p.Ala305Pro)
c.560G>C (p.Ser187Thr)
n.80G>C
n.240G>C
22g.19964186G>TCA410689668COMTc.502G>T (p.Ala168Ser)
c.352G>T (p.Ala118Ser)
c.616G>T (p.Ala206Ser)
c.913G>T (p.Ala305Ser)
c.560G>T (p.Ser187Ile)
n.80G>T
n.240G>T
22g.19964187C>ACA410689669COMTc.503C>A (p.Ala168Glu)
c.353C>A (p.Ala118Glu)
c.617C>A (p.Ala206Glu)
c.914C>A (p.Ala305Glu)
c.561C>A (p.Ser187Arg)
n.81C>A
n.241C>A
22g.19964187C>GCA410689670COMTc.503C>G (p.Ala168Gly)
c.353C>G (p.Ala118Gly)
c.617C>G (p.Ala206Gly)
c.914C>G (p.Ala305Gly)
c.561C>G (p.Ser187Arg)
n.81C>G
n.241C>G
22g.19964187C>TCA10104633COMTc.503C>T (p.Ala168Val)
c.353C>T (p.Ala118Val)
c.617C>T (p.Ala206Val)
c.914C>T (p.Ala305Val)
c.561C>T (p.Ser187=)
n.81C>T
n.241C>T
ClinVar dbSNP ExAC gnomAD
22g.19964188G>ACA10104634COMTc.504G>A (p.Ala168=)
c.354G>A (p.Ala118=)
c.618G>A (p.Ala206=)
c.915G>A (p.Ala305=)
c.562G>A (p.Val188Ile)
n.82G>A
n.242G>A
ClinVar dbSNP ExAC gnomAD
22g.19964188G>CCA513688293COMTc.504G>C (p.Ala168=)
c.354G>C (p.Ala118=)
c.618G>C (p.Ala206=)
c.915G>C (p.Ala305=)
c.562G>C (p.Val188Leu)
n.82G>C
n.242G>C
22g.19964188G>TCA513688291COMTc.504G>T (p.Ala168=)
c.354G>T (p.Ala118=)
c.618G>T (p.Ala206=)
c.915G>T (p.Ala305=)
c.562G>T (p.Val188Phe)
n.82G>T
n.242G>T
22g.19964189T>ACA410689671COMTc.505T>A (p.Ser169Thr)
c.355T>A (p.Ser119Thr)
c.619T>A (p.Ser207Thr)
c.916T>A (p.Ser306Thr)
c.563T>A (p.Val188Asp)
n.83T>A
n.243T>A
22g.19964189T>CCA410689672COMTc.505T>C (p.Ser169Pro)
c.355T>C (p.Ser119Pro)
c.619T>C (p.Ser207Pro)
c.916T>C (p.Ser306Pro)
c.563T>C (p.Val188Ala)
n.83T>C
n.243T>C
22g.19964189T>GCA10104635COMTc.505T>G (p.Ser169Ala)
c.355T>G (p.Ser119Ala)
c.619T>G (p.Ser207Ala)
c.916T>G (p.Ser306Ala)
c.563T>G (p.Val188Gly)
n.83T>G
n.243T>G
dbSNP ExAC gnomAD
22g.19964190C>ACA410689673COMTc.506C>A (p.Ser169Tyr)
c.356C>A (p.Ser119Tyr)
c.620C>A (p.Ser207Tyr)
c.917C>A (p.Ser306Tyr)
c.564C>A (p.Val188=)
n.84C>A
n.244C>A
22g.19964190C>GCA410689674COMTc.506C>G (p.Ser169Cys)
c.356C>G (p.Ser119Cys)
c.620C>G (p.Ser207Cys)
c.917C>G (p.Ser306Cys)
c.564C>G (p.Val188=)
n.84C>G
n.244C>G
22g.19964190C>TCA410689675COMTc.506C>T (p.Ser169Phe)
c.356C>T (p.Ser119Phe)
c.620C>T (p.Ser207Phe)
c.917C>T (p.Ser306Phe)
c.564C>T (p.Val188=)
n.84C>T
n.244C>T
22g.19964191C>ACA513688301COMTc.507C>A (p.Ser169=)
c.357C>A (p.Ser119=)
c.621C>A (p.Ser207=)
c.918C>A (p.Ser306=)
c.565C>A (p.Pro189Thr)
n.85C>A
n.245C>A
22g.19964191C>GCA513688299COMTc.507C>G (p.Ser169=)
c.357C>G (p.Ser119=)
c.621C>G (p.Ser207=)
c.918C>G (p.Ser306=)
c.565C>G (p.Pro189Ala)
n.85C>G
n.245C>G
22g.19964191C>TCA513688298COMTc.507C>T (p.Ser169=)
c.357C>T (p.Ser119=)
c.621C>T (p.Ser207=)
c.918C>T (p.Ser306=)
c.565C>T (p.Pro189Ser)
n.85C>T
n.245C>T
22g.19964192C>ACA410689676COMTc.508C>A (p.Gln170Lys)
c.358C>A (p.Gln120Lys)
c.622C>A (p.Gln208Lys)
c.919C>A (p.Gln307Lys)
c.566C>A (p.Pro189Gln)
n.86C>A
n.246C>A
22g.19964192C>GCA410689678COMTc.508C>G (p.Gln170Glu)
c.358C>G (p.Gln120Glu)
c.622C>G (p.Gln208Glu)
c.919C>G (p.Gln307Glu)
c.566C>G (p.Pro189Arg)
n.86C>G
n.246C>G
gnomAD
22g.19964192C>TCA410689677COMTc.508C>T (p.Gln170Ter)
c.358C>T (p.Gln120Ter)
c.622C>T (p.Gln208Ter)
c.919C>T (p.Gln307Ter)
c.566C>T (p.Pro189Leu)
n.86C>T
n.246C>T
22g.19964193A>CCA410689679COMTc.509A>C (p.Gln170Pro)
c.359A>C (p.Gln120Pro)
c.623A>C (p.Gln208Pro)
c.920A>C (p.Gln307Pro)
c.567A>C (p.Pro189=)
n.87A>C
n.247A>C
22g.19964193A>GCA410689680COMTc.509A>G (p.Gln170Arg)
c.359A>G (p.Gln120Arg)
c.623A>G (p.Gln208Arg)
c.920A>G (p.Gln307Arg)
c.567A>G (p.Pro189=)
n.87A>G
n.247A>G
22g.19964193A>TCA410689681COMTc.509A>T (p.Gln170Leu)
c.359A>T (p.Gln120Leu)
c.623A>T (p.Gln208Leu)
c.920A>T (p.Gln307Leu)
c.567A>T (p.Pro189=)
n.87A>T
n.247A>T
22g.19964194G>ACA10104636COMTc.510G>A (p.Gln170=)
c.360G>A (p.Gln120=)
c.624G>A (p.Gln208=)
c.921G>A (p.Gln307=)
c.568G>A (p.Gly190Arg)
n.88G>A
n.248G>A
ClinVar dbSNP ExAC gnomAD
22g.19964194G>CCA410689682COMTc.510G>C (p.Gln170His)
c.360G>C (p.Gln120His)
c.624G>C (p.Gln208His)
c.921G>C (p.Gln307His)
c.568G>C (p.Gly190Arg)
n.88G>C
n.248G>C
22g.19964194G>TCA410689683COMTc.510G>T (p.Gln170His)
c.360G>T (p.Gln120His)
c.624G>T (p.Gln208His)
c.921G>T (p.Gln307His)
c.568G>T (p.Gly190Ter)
n.88G>T
n.248G>T
22g.19964195G>ACA10104637COMTc.511G>A (p.Asp171Asn)
c.361G>A (p.Asp121Asn)
c.625G>A (p.Asp209Asn)
c.922G>A (p.Asp308Asn)
c.569G>A (p.Gly190Glu)
n.89G>A
n.249G>A
dbSNP ExAC gnomAD COSMIC
22g.19964195G>CCA410689684COMTc.511G>C (p.Asp171His)
c.361G>C (p.Asp121His)
c.625G>C (p.Asp209His)
c.922G>C (p.Asp308His)
c.569G>C (p.Gly190Ala)
n.89G>C
n.249G>C
22g.19964195G>TCA410689685COMTc.511G>T (p.Asp171Tyr)
c.361G>T (p.Asp121Tyr)
c.625G>T (p.Asp209Tyr)
c.922G>T (p.Asp308Tyr)
c.569G>T (p.Gly190Val)
n.89G>T
n.249G>T
22g.19964196A>CCA410689686COMTc.512A>C (p.Asp171Ala)
c.362A>C (p.Asp121Ala)
c.626A>C (p.Asp209Ala)
c.923A>C (p.Asp308Ala)
c.570A>C (p.Gly190=)
n.90A>C
n.250A>C
22g.19964196A>GCA410689687COMTc.512A>G (p.Asp171Gly)
c.362A>G (p.Asp121Gly)
c.626A>G (p.Asp209Gly)
c.923A>G (p.Asp308Gly)
c.570A>G (p.Gly190=)
n.90A>G
n.250A>G
22g.19964196A>TCA410689688COMTc.512A>T (p.Asp171Val)
c.362A>T (p.Asp121Val)
c.626A>T (p.Asp209Val)
c.923A>T (p.Asp308Val)
c.570A>T (p.Gly190=)
n.90A>T
n.250A>T
22g.19964197C>ACA410689690COMTc.513C>A (p.Asp171Glu)
c.363C>A (p.Asp121Glu)
c.627C>A (p.Asp209Glu)
c.924C>A (p.Asp308Glu)
c.571C>A (p.His191Asn)
n.91C>A
n.251C>A
22g.19964197C>GCA410689689COMTc.513C>G (p.Asp171Glu)
c.363C>G (p.Asp121Glu)
c.627C>G (p.Asp209Glu)
c.924C>G (p.Asp308Glu)
c.571C>G (p.His191Asp)
n.91C>G
n.251C>G

Number of alleles fetched