Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663390C>ACA416026340CAMTA1c.843C>A (p.Ala281=)
c.*694C>A (n.*694C>A)
c.753C>A (p.Ala251=)
c.771C>A (p.Ala257=)
c.*612C>A (n.*612C>A)
c.831C>A (p.Ala277=)
1g.7663390C>GCA416026341CAMTA1c.843C>G (p.Ala281=)
c.*694C>G (n.*694C>G)
c.753C>G (p.Ala251=)
c.771C>G (p.Ala257=)
c.*612C>G (n.*612C>G)
c.831C>G (p.Ala277=)
1g.7663390C>TCA416026342CAMTA1c.843C>T (p.Ala281=)
c.*694C>T (n.*694C>T)
c.753C>T (p.Ala251=)
c.771C>T (p.Ala257=)
c.*612C>T (n.*612C>T)
c.831C>T (p.Ala277=)
1g.7663391A>CCA338121462CAMTA1c.844A>C (p.Lys282Gln)
c.*695A>C (n.*695A>C)
c.754A>C (p.Lys252Gln)
c.772A>C (p.Lys258Gln)
c.*613A>C (n.*613A>C)
c.832A>C (p.Lys278Gln)
1g.7663391A>GCA338121465CAMTA1c.844A>G (p.Lys282Glu)
c.*695A>G (n.*695A>G)
c.754A>G (p.Lys252Glu)
c.772A>G (p.Lys258Glu)
c.*613A>G (n.*613A>G)
c.832A>G (p.Lys278Glu)
1g.7663391A>TCA338121476CAMTA1c.844A>T (p.Lys282Ter)
c.*695A>T (n.*695A>T)
c.754A>T (p.Lys252Ter)
c.772A>T (p.Lys258Ter)
c.*613A>T (n.*613A>T)
c.832A>T (p.Lys278Ter)
1g.7663392A>CCA338121492CAMTA1c.845A>C (p.Lys282Thr)
c.*696A>C (n.*696A>C)
c.755A>C (p.Lys252Thr)
c.773A>C (p.Lys258Thr)
c.*614A>C (n.*614A>C)
c.833A>C (p.Lys278Thr)
1g.7663392A>GCA338121489CAMTA1c.845A>G (p.Lys282Arg)
c.*696A>G (n.*696A>G)
c.755A>G (p.Lys252Arg)
c.773A>G (p.Lys258Arg)
c.*614A>G (n.*614A>G)
c.833A>G (p.Lys278Arg)
1g.7663392A>TCA338121479CAMTA1c.845A>T (p.Lys282Ile)
c.*696A>T (n.*696A>T)
c.755A>T (p.Lys252Ile)
c.773A>T (p.Lys258Ile)
c.*614A>T (n.*614A>T)
c.833A>T (p.Lys278Ile)
1g.7663393A>CCA338121496CAMTA1c.846A>C (p.Lys282Asn)
c.*697A>C (n.*697A>C)
c.756A>C (p.Lys252Asn)
c.774A>C (p.Lys258Asn)
c.*615A>C (n.*615A>C)
c.834A>C (p.Lys278Asn)
1g.7663393A>GCA416026343CAMTA1c.846A>G (p.Lys282=)
c.*697A>G (n.*697A>G)
c.756A>G (p.Lys252=)
c.774A>G (p.Lys258=)
c.*615A>G (n.*615A>G)
c.834A>G (p.Lys278=)
1g.7663393A>TCA338121495CAMTA1c.846A>T (p.Lys282Asn)
c.*697A>T (n.*697A>T)
c.756A>T (p.Lys252Asn)
c.774A>T (p.Lys258Asn)
c.*615A>T (n.*615A>T)
c.834A>T (p.Lys278Asn)
1g.7663394C>ACA338121499CAMTA1c.847C>A (p.His283Asn)
c.*698C>A (n.*698C>A)
c.757C>A (p.His253Asn)
c.775C>A (p.His259Asn)
c.*616C>A (n.*616C>A)
c.835C>A (p.His279Asn)
dbSNP gnomAD v3 gnomAD v4
1g.7663394C=CA1152023599CAMTA1c.847C= (p.His283=)
c.*698C= (n.*698C=)
c.757C= (p.His253=)
c.775C= (p.His259=)
c.*616C= (n.*616C=)
c.835C= (p.His279=)
1g.7663394C>GCA338121503CAMTA1c.847C>G (p.His283Asp)
c.*698C>G (n.*698C>G)
c.757C>G (p.His253Asp)
c.775C>G (p.His259Asp)
c.*616C>G (n.*616C>G)
c.835C>G (p.His279Asp)
1g.7663394C>TCA338121505CAMTA1c.847C>T (p.His283Tyr)
c.*698C>T (n.*698C>T)
c.757C>T (p.His253Tyr)
c.775C>T (p.His259Tyr)
c.*616C>T (n.*616C>T)
c.835C>T (p.His279Tyr)
gnomAD v4
1g.7663395A>CCA338121513CAMTA1c.848A>C (p.His283Pro)
c.*699A>C (n.*699A>C)
c.758A>C (p.His253Pro)
c.776A>C (p.His259Pro)
c.*617A>C (n.*617A>C)
c.836A>C (p.His279Pro)
1g.7663395A>GCA338121515CAMTA1c.848A>G (p.His283Arg)
c.*699A>G (n.*699A>G)
c.758A>G (p.His253Arg)
c.776A>G (p.His259Arg)
c.*617A>G (n.*617A>G)
c.836A>G (p.His279Arg)
1g.7663395A>TCA338121518CAMTA1c.848A>T (p.His283Leu)
c.*699A>T (n.*699A>T)
c.758A>T (p.His253Leu)
c.776A>T (p.His259Leu)
c.*617A>T (n.*617A>T)
c.836A>T (p.His279Leu)
1g.7663396C>ACA338121521CAMTA1c.849C>A (p.His283Gln)
c.*700C>A (n.*700C>A)
c.759C>A (p.His253Gln)
c.777C>A (p.His259Gln)
c.*618C>A (n.*618C>A)
c.837C>A (p.His279Gln)
gnomAD v4
1g.7663396C>GCA338121523CAMTA1c.849C>G (p.His283Gln)
c.*700C>G (n.*700C>G)
c.759C>G (p.His253Gln)
c.777C>G (p.His259Gln)
c.*618C>G (n.*618C>G)
c.837C>G (p.His279Gln)
1g.7663396C>TCA416026344CAMTA1c.849C>T (p.His283=)
c.*700C>T (n.*700C>T)
c.759C>T (p.His253=)
c.777C>T (p.His259=)
c.*618C>T (n.*618C>T)
c.837C>T (p.His279=)
1g.7663397C>ACA338121526CAMTA1c.850C>A (p.Arg284Ser)
c.*701C>A (n.*701C>A)
c.760C>A (p.Arg254Ser)
c.778C>A (p.Arg260Ser)
c.*619C>A (n.*619C>A)
c.838C>A (p.Arg280Ser)
gnomAD v4
1g.7663397C=CA1152023600CAMTA1c.850C= (p.Arg284=)
c.*701C= (n.*701C=)
c.760C= (p.Arg254=)
c.778C= (p.Arg260=)
c.*619C= (n.*619C=)
c.838C= (p.Arg280=)
1g.7663397C>GCA338121528CAMTA1c.850C>G (p.Arg284Gly)
c.*701C>G (n.*701C>G)
c.760C>G (p.Arg254Gly)
c.778C>G (p.Arg260Gly)
c.*619C>G (n.*619C>G)
c.838C>G (p.Arg280Gly)
dbSNP gnomAD v4
1g.7663397C>TCA338121530CAMTA1c.850C>T (p.Arg284Cys)
c.*701C>T (n.*701C>T)
c.760C>T (p.Arg254Cys)
c.778C>T (p.Arg260Cys)
c.*619C>T (n.*619C>T)
c.838C>T (p.Arg280Cys)
dbSNP gnomAD v2 gnomAD v4
1g.7663398G>ACA566311CAMTA1c.851G>A (p.Arg284His)
c.*702G>A (n.*702G>A)
c.761G>A (p.Arg254His)
c.779G>A (p.Arg260His)
c.*620G>A (n.*620G>A)
c.839G>A (p.Arg280His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663398G>CCA338121536CAMTA1c.851G>C (p.Arg284Pro)
c.*702G>C (n.*702G>C)
c.761G>C (p.Arg254Pro)
c.779G>C (p.Arg260Pro)
c.*620G>C (n.*620G>C)
c.839G>C (p.Arg280Pro)
1g.7663398G=CA1152023601CAMTA1c.851G= (p.Arg284=)
c.*702G= (n.*702G=)
c.761G= (p.Arg254=)
c.779G= (p.Arg260=)
c.*620G= (n.*620G=)
c.839G= (p.Arg280=)
1g.7663398G>TCA566310CAMTA1c.851G>T (p.Arg284Leu)
c.*702G>T (n.*702G>T)
c.761G>T (p.Arg254Leu)
c.779G>T (p.Arg260Leu)
c.*620G>T (n.*620G>T)
c.839G>T (p.Arg280Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663399C>ACA416026347CAMTA1c.852C>A (p.Arg284=)
c.*703C>A (n.*703C>A)
c.762C>A (p.Arg254=)
c.780C>A (p.Arg260=)
c.*621C>A (n.*621C>A)
c.840C>A (p.Arg280=)
1g.7663399C>GCA416026346CAMTA1c.852C>G (p.Arg284=)
c.*703C>G (n.*703C>G)
c.762C>G (p.Arg254=)
c.780C>G (p.Arg260=)
c.*621C>G (n.*621C>G)
c.840C>G (p.Arg280=)
1g.7663399C>TCA416026345CAMTA1c.852C>T (p.Arg284=)
c.*703C>T (n.*703C>T)
c.762C>T (p.Arg254=)
c.780C>T (p.Arg260=)
c.*621C>T (n.*621C>T)
c.840C>T (p.Arg280=)
COSMIC
1g.7663400A>CCA338121538CAMTA1c.853A>C (p.Ile285Leu)
c.*704A>C (n.*704A>C)
c.763A>C (p.Ile255Leu)
c.781A>C (p.Ile261Leu)
c.*622A>C (n.*622A>C)
c.841A>C (p.Ile281Leu)
1g.7663400A>GCA338121539CAMTA1c.853A>G (p.Ile285Val)
c.*704A>G (n.*704A>G)
c.763A>G (p.Ile255Val)
c.781A>G (p.Ile261Val)
c.*622A>G (n.*622A>G)
c.841A>G (p.Ile281Val)
1g.7663400A>TCA338121541CAMTA1c.853A>T (p.Ile285Phe)
c.*704A>T (n.*704A>T)
c.763A>T (p.Ile255Phe)
c.781A>T (p.Ile261Phe)
c.*622A>T (n.*622A>T)
c.841A>T (p.Ile281Phe)
1g.7663401T>ACA338121545CAMTA1c.854T>A (p.Ile285Asn)
c.*705T>A (n.*705T>A)
c.764T>A (p.Ile255Asn)
c.782T>A (p.Ile261Asn)
c.*623T>A (n.*623T>A)
c.842T>A (p.Ile281Asn)
1g.7663401T>CCA338121547CAMTA1c.854T>C (p.Ile285Thr)
c.*705T>C (n.*705T>C)
c.764T>C (p.Ile255Thr)
c.782T>C (p.Ile261Thr)
c.*623T>C (n.*623T>C)
c.842T>C (p.Ile281Thr)
1g.7663401T>GCA338121555CAMTA1c.854T>G (p.Ile285Ser)
c.*705T>G (n.*705T>G)
c.764T>G (p.Ile255Ser)
c.782T>G (p.Ile261Ser)
c.*623T>G (n.*623T>G)
c.842T>G (p.Ile281Ser)
1g.7663402C>ACA416026348CAMTA1c.855C>A (p.Ile285=)
c.*706C>A (n.*706C>A)
c.765C>A (p.Ile255=)
c.783C>A (p.Ile261=)
c.*624C>A (n.*624C>A)
c.843C>A (p.Ile281=)
1g.7663402C>GCA338121558CAMTA1c.855C>G (p.Ile285Met)
c.*706C>G (n.*706C>G)
c.765C>G (p.Ile255Met)
c.783C>G (p.Ile261Met)
c.*624C>G (n.*624C>G)
c.843C>G (p.Ile281Met)
1g.7663402C>TCA416026349CAMTA1c.855C>T (p.Ile285=)
c.*706C>T (n.*706C>T)
c.765C>T (p.Ile255=)
c.783C>T (p.Ile261=)
c.*624C>T (n.*624C>T)
c.843C>T (p.Ile281=)
1g.7663403A>CCA338121561CAMTA1c.856A>C (p.Ile286Leu)
c.*707A>C (n.*707A>C)
c.766A>C (p.Ile256Leu)
c.784A>C (p.Ile262Leu)
c.*625A>C (n.*625A>C)
c.844A>C (p.Ile282Leu)
1g.7663403A>GCA338121562CAMTA1c.856A>G (p.Ile286Val)
c.*707A>G (n.*707A>G)
c.766A>G (p.Ile256Val)
c.784A>G (p.Ile262Val)
c.*625A>G (n.*625A>G)
c.844A>G (p.Ile282Val)
1g.7663403A>TCA338121563CAMTA1c.856A>T (p.Ile286Phe)
c.*707A>T (n.*707A>T)
c.766A>T (p.Ile256Phe)
c.784A>T (p.Ile262Phe)
c.*625A>T (n.*625A>T)
c.844A>T (p.Ile282Phe)
1g.7663404T>ACA338121564CAMTA1c.857T>A (p.Ile286Asn)
c.*708T>A (n.*708T>A)
c.767T>A (p.Ile256Asn)
c.785T>A (p.Ile262Asn)
c.*626T>A (n.*626T>A)
c.845T>A (p.Ile282Asn)
gnomAD v4
1g.7663404T>CCA338121565CAMTA1c.857T>C (p.Ile286Thr)
c.*708T>C (n.*708T>C)
c.767T>C (p.Ile256Thr)
c.785T>C (p.Ile262Thr)
c.*626T>C (n.*626T>C)
c.845T>C (p.Ile282Thr)
gnomAD v4
1g.7663404T>GCA338121568CAMTA1c.857T>G (p.Ile286Ser)
c.*708T>G (n.*708T>G)
c.767T>G (p.Ile256Ser)
c.785T>G (p.Ile262Ser)
c.*626T>G (n.*626T>G)
c.845T>G (p.Ile282Ser)
1g.7663405C>ACA416026350CAMTA1c.858C>A (p.Ile286=)
c.*709C>A (n.*709C>A)
c.768C>A (p.Ile256=)
c.786C>A (p.Ile262=)
c.*627C>A (n.*627C>A)
c.846C>A (p.Ile282=)
gnomAD v4 COSMIC
1g.7663405C>GCA338121569CAMTA1c.858C>G (p.Ile286Met)
c.*709C>G (n.*709C>G)
c.768C>G (p.Ile256Met)
c.786C>G (p.Ile262Met)
c.*627C>G (n.*627C>G)
c.846C>G (p.Ile282Met)
1g.7663405C>TCA416026351CAMTA1c.858C>T (p.Ile286=)
c.*709C>T (n.*709C>T)
c.768C>T (p.Ile256=)
c.786C>T (p.Ile262=)
c.*627C>T (n.*627C>T)
c.846C>T (p.Ile282=)
COSMIC
1g.7663406T>ACA338121573CAMTA1c.859T>A (p.Ser287Thr)
c.*710T>A (n.*710T>A)
c.769T>A (p.Ser257Thr)
c.787T>A (p.Ser263Thr)
c.*628T>A (n.*628T>A)
c.847T>A (p.Ser283Thr)
1g.7663406T>CCA338121577CAMTA1c.859T>C (p.Ser287Pro)
c.*710T>C (n.*710T>C)
c.769T>C (p.Ser257Pro)
c.787T>C (p.Ser263Pro)
c.*628T>C (n.*628T>C)
c.847T>C (p.Ser283Pro)
gnomAD v4
1g.7663406T>GCA338121571CAMTA1c.859T>G (p.Ser287Ala)
c.*710T>G (n.*710T>G)
c.769T>G (p.Ser257Ala)
c.787T>G (p.Ser263Ala)
c.*628T>G (n.*628T>G)
c.847T>G (p.Ser283Ala)
1g.7663407C>ACA338121579CAMTA1c.860C>A (p.Ser287Ter)
c.*711C>A (n.*711C>A)
c.770C>A (p.Ser257Ter)
c.788C>A (p.Ser263Ter)
c.*629C>A (n.*629C>A)
c.848C>A (p.Ser283Ter)
1g.7663407C=CA1152023602CAMTA1c.860C= (p.Ser287=)
c.*711C= (n.*711C=)
c.770C= (p.Ser257=)
c.788C= (p.Ser263=)
c.*629C= (n.*629C=)
c.848C= (p.Ser283=)
1g.7663407C>GCA338121585CAMTA1c.860C>G (p.Ser287Trp)
c.*711C>G (n.*711C>G)
c.770C>G (p.Ser257Trp)
c.788C>G (p.Ser263Trp)
c.*629C>G (n.*629C>G)
c.848C>G (p.Ser283Trp)
COSMIC COSMIC
1g.7663407C>TCA338121582CAMTA1c.860C>T (p.Ser287Leu)
c.*711C>T (n.*711C>T)
c.770C>T (p.Ser257Leu)
c.788C>T (p.Ser263Leu)
c.*629C>T (n.*629C>T)
c.848C>T (p.Ser283Leu)
dbSNP gnomAD v4 COSMIC
1g.7663408G>ACA566312CAMTA1c.861G>A (p.Ser287=)
c.*712G>A (n.*712G>A)
c.771G>A (p.Ser257=)
c.789G>A (p.Ser263=)
c.*630G>A (n.*630G>A)
c.849G>A (p.Ser283=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663408G>CCA416026352CAMTA1c.861G>C (p.Ser287=)
c.*712G>C (n.*712G>C)
c.771G>C (p.Ser257=)
c.789G>C (p.Ser263=)
c.*630G>C (n.*630G>C)
c.849G>C (p.Ser283=)
dbSNP
1g.7663408G=CA1152023603CAMTA1c.861G= (p.Ser287=)
c.*712G= (n.*712G=)
c.771G= (p.Ser257=)
c.789G= (p.Ser263=)
c.*630G= (n.*630G=)
c.849G= (p.Ser283=)
1g.7663408G>TCA416026353CAMTA1c.861G>T (p.Ser287=)
c.*712G>T (n.*712G>T)
c.771G>T (p.Ser257=)
c.789G>T (p.Ser263=)
c.*630G>T (n.*630G>T)
c.849G>T (p.Ser283=)
gnomAD v4
1g.7663409C>ACA338121590CAMTA1c.862C>A (p.Pro288Thr)
c.*713C>A (n.*713C>A)
c.772C>A (p.Pro258Thr)
c.790C>A (p.Pro264Thr)
c.*631C>A (n.*631C>A)
c.850C>A (p.Pro284Thr)
gnomAD v4
1g.7663409C>GCA338121593CAMTA1c.862C>G (p.Pro288Ala)
c.*713C>G (n.*713C>G)
c.772C>G (p.Pro258Ala)
c.790C>G (p.Pro264Ala)
c.*631C>G (n.*631C>G)
c.850C>G (p.Pro284Ala)
1g.7663409C>TCA338121602CAMTA1c.862C>T (p.Pro288Ser)
c.*713C>T (n.*713C>T)
c.772C>T (p.Pro258Ser)
c.790C>T (p.Pro264Ser)
c.*631C>T (n.*631C>T)
c.850C>T (p.Pro284Ser)
1g.7663410C>ACA338121606CAMTA1c.863C>A (p.Pro288His)
c.*714C>A (n.*714C>A)
c.773C>A (p.Pro258His)
c.791C>A (p.Pro264His)
c.*632C>A (n.*632C>A)
c.851C>A (p.Pro284His)
gnomAD v4
1g.7663410C>GCA338121614CAMTA1c.863C>G (p.Pro288Arg)
c.*714C>G (n.*714C>G)
c.773C>G (p.Pro258Arg)
c.791C>G (p.Pro264Arg)
c.*632C>G (n.*632C>G)
c.851C>G (p.Pro284Arg)
1g.7663410C>TCA338121615CAMTA1c.863C>T (p.Pro288Leu)
c.*714C>T (n.*714C>T)
c.773C>T (p.Pro258Leu)
c.791C>T (p.Pro264Leu)
c.*632C>T (n.*632C>T)
c.851C>T (p.Pro284Leu)
1g.7663411C>ACA416026354CAMTA1c.864C>A (p.Pro288=)
c.*715C>A (n.*715C>A)
c.774C>A (p.Pro258=)
c.792C>A (p.Pro264=)
c.*633C>A (n.*633C>A)
c.852C>A (p.Pro284=)
1g.7663411C=CA1152023604CAMTA1c.864C= (p.Pro288=)
c.*715C= (n.*715C=)
c.774C= (p.Pro258=)
c.792C= (p.Pro264=)
c.*633C= (n.*633C=)
c.852C= (p.Pro284=)
1g.7663411C>GCA416026355CAMTA1c.864C>G (p.Pro288=)
c.*715C>G (n.*715C>G)
c.774C>G (p.Pro258=)
c.792C>G (p.Pro264=)
c.*633C>G (n.*633C>G)
c.852C>G (p.Pro284=)
1g.7663411C>TCA416026356CAMTA1c.864C>T (p.Pro288=)
c.*715C>T (n.*715C>T)
c.774C>T (p.Pro258=)
c.792C>T (p.Pro264=)
c.*633C>T (n.*633C>T)
c.852C>T (p.Pro284=)
dbSNP gnomAD v2 gnomAD v4
1g.7663412A>CCA338121616CAMTA1c.865A>C (p.Lys289Gln)
c.*716A>C (n.*716A>C)
c.775A>C (p.Lys259Gln)
c.793A>C (p.Lys265Gln)
c.*634A>C (n.*634A>C)
c.853A>C (p.Lys285Gln)
1g.7663412A>GCA338121617CAMTA1c.865A>G (p.Lys289Glu)
c.*716A>G (n.*716A>G)
c.775A>G (p.Lys259Glu)
c.793A>G (p.Lys265Glu)
c.*634A>G (n.*634A>G)
c.853A>G (p.Lys285Glu)
1g.7663412A>TCA338121618CAMTA1c.865A>T (p.Lys289Ter)
c.*716A>T (n.*716A>T)
c.775A>T (p.Lys259Ter)
c.793A>T (p.Lys265Ter)
c.*634A>T (n.*634A>T)
c.853A>T (p.Lys285Ter)
1g.7663413delCA2643031703CAMTA1c.866del (p.Lys289ArgfsTer?)
c.*717del (n.*717del)
c.776del (p.Lys259ArgfsTer?)
c.794del (p.Lys265ArgfsTer?)
c.*635del (n.*635del)
c.854del (p.Lys285ArgfsTer?)
gnomAD v4
1g.7663413A>CCA338121625CAMTA1c.866A>C (p.Lys289Thr)
c.*717A>C (n.*717A>C)
c.776A>C (p.Lys259Thr)
c.794A>C (p.Lys265Thr)
c.*635A>C (n.*635A>C)
c.854A>C (p.Lys285Thr)
1g.7663413A>GCA338121623CAMTA1c.866A>G (p.Lys289Arg)
c.*717A>G (n.*717A>G)
c.776A>G (p.Lys259Arg)
c.794A>G (p.Lys265Arg)
c.*635A>G (n.*635A>G)
c.854A>G (p.Lys285Arg)
1g.7663413A>TCA338121621CAMTA1c.866A>T (p.Lys289Met)
c.*717A>T (n.*717A>T)
c.776A>T (p.Lys259Met)
c.794A>T (p.Lys265Met)
c.*635A>T (n.*635A>T)
c.854A>T (p.Lys285Met)
1g.7663414G>ACA17243836CAMTA1c.867G>A (p.Lys289=)
c.*718G>A (n.*718G>A)
c.777G>A (p.Lys259=)
c.795G>A (p.Lys265=)
c.*636G>A (n.*636G>A)
c.855G>A (p.Lys285=)
dbSNP
1g.7663414G>CCA338121629CAMTA1c.867G>C (p.Lys289Asn)
c.*718G>C (n.*718G>C)
c.777G>C (p.Lys259Asn)
c.795G>C (p.Lys265Asn)
c.*636G>C (n.*636G>C)
c.855G>C (p.Lys285Asn)
gnomAD v4
1g.7663414G=CA1152023605CAMTA1c.867G= (p.Lys289=)
c.*718G= (n.*718G=)
c.777G= (p.Lys259=)
c.795G= (p.Lys265=)
c.*636G= (n.*636G=)
c.855G= (p.Lys285=)
1g.7663414G>TCA338121631CAMTA1c.867G>T (p.Lys289Asn)
c.*718G>T (n.*718G>T)
c.777G>T (p.Lys259Asn)
c.795G>T (p.Lys265Asn)
c.*636G>T (n.*636G>T)
c.855G>T (p.Lys285Asn)
gnomAD v4
1g.7663415G>ACA338121635CAMTA1c.868G>A (p.Val290Met)
c.*719G>A (n.*719G>A)
c.778G>A (p.Val260Met)
c.796G>A (p.Val266Met)
c.*637G>A (n.*637G>A)
c.856G>A (p.Val286Met)
1g.7663415G>CCA338121639CAMTA1c.868G>C (p.Val290Leu)
c.*719G>C (n.*719G>C)
c.778G>C (p.Val260Leu)
c.796G>C (p.Val266Leu)
c.*637G>C (n.*637G>C)
c.856G>C (p.Val286Leu)
1g.7663415G>TCA338121644CAMTA1c.868G>T (p.Val290Leu)
c.*719G>T (n.*719G>T)
c.778G>T (p.Val260Leu)
c.796G>T (p.Val266Leu)
c.*637G>T (n.*637G>T)
c.856G>T (p.Val286Leu)
1g.7663416T>ACA338121647CAMTA1c.869T>A (p.Val290Glu)
c.*720T>A (n.*720T>A)
c.779T>A (p.Val260Glu)
c.797T>A (p.Val266Glu)
c.*638T>A (n.*638T>A)
c.857T>A (p.Val286Glu)
1g.7663416T>CCA338121650CAMTA1c.869T>C (p.Val290Ala)
c.*720T>C (n.*720T>C)
c.779T>C (p.Val260Ala)
c.797T>C (p.Val266Ala)
c.*638T>C (n.*638T>C)
c.857T>C (p.Val286Ala)
1g.7663416T>GCA338121653CAMTA1c.869T>G (p.Val290Gly)
c.*720T>G (n.*720T>G)
c.779T>G (p.Val260Gly)
c.797T>G (p.Val266Gly)
c.*638T>G (n.*638T>G)
c.857T>G (p.Val286Gly)
1g.7663417G>ACA416026357CAMTA1c.870G>A (p.Val290=)
c.*721G>A (n.*721G>A)
c.780G>A (p.Val260=)
c.798G>A (p.Val266=)
c.*639G>A (n.*639G>A)
c.858G>A (p.Val286=)
gnomAD v4
1g.7663417G>CCA416026359CAMTA1c.870G>C (p.Val290=)
c.*721G>C (n.*721G>C)
c.780G>C (p.Val260=)
c.798G>C (p.Val266=)
c.*639G>C (n.*639G>C)
c.858G>C (p.Val286=)
1g.7663417G>TCA416026358CAMTA1c.870G>T (p.Val290=)
c.*721G>T (n.*721G>T)
c.780G>T (p.Val260=)
c.798G>T (p.Val266=)
c.*639G>T (n.*639G>T)
c.858G>T (p.Val286=)
1g.7663418G>ACA338121656CAMTA1c.871G>A (p.Glu291Lys)
c.*722G>A (n.*722G>A)
c.781G>A (p.Glu261Lys)
c.799G>A (p.Glu267Lys)
c.*640G>A (n.*640G>A)
c.859G>A (p.Glu287Lys)
1g.7663418G>CCA338121660CAMTA1c.871G>C (p.Glu291Gln)
c.*722G>C (n.*722G>C)
c.781G>C (p.Glu261Gln)
c.799G>C (p.Glu267Gln)
c.*640G>C (n.*640G>C)
c.859G>C (p.Glu287Gln)
1g.7663418G>TCA338121662CAMTA1c.871G>T (p.Glu291Ter)
c.*722G>T (n.*722G>T)
c.781G>T (p.Glu261Ter)
c.799G>T (p.Glu267Ter)
c.*640G>T (n.*640G>T)
c.859G>T (p.Glu287Ter)
1g.7663419A=CA1152023606CAMTA1c.872A= (p.Glu291=)
c.*723A= (n.*723A=)
c.782A= (p.Glu261=)
c.800A= (p.Glu267=)
c.*641A= (n.*641A=)
c.860A= (p.Glu287=)
1g.7663419A>CCA338121668CAMTA1c.872A>C (p.Glu291Ala)
c.*723A>C (n.*723A>C)
c.782A>C (p.Glu261Ala)
c.800A>C (p.Glu267Ala)
c.*641A>C (n.*641A>C)
c.860A>C (p.Glu287Ala)
1g.7663419A>GCA338121669CAMTA1c.872A>G (p.Glu291Gly)
c.*723A>G (n.*723A>G)
c.782A>G (p.Glu261Gly)
c.800A>G (p.Glu267Gly)
c.*641A>G (n.*641A>G)
c.860A>G (p.Glu287Gly)
dbSNP gnomAD v2 gnomAD v4
1g.7663419A>TCA338121666CAMTA1c.872A>T (p.Glu291Val)
c.*723A>T (n.*723A>T)
c.782A>T (p.Glu261Val)
c.800A>T (p.Glu267Val)
c.*641A>T (n.*641A>T)
c.860A>T (p.Glu287Val)
1g.7663420G>ACA17243839CAMTA1c.873G>A (p.Glu291=)
c.*724G>A (n.*724G>A)
c.783G>A (p.Glu261=)
c.801G>A (p.Glu267=)
c.*642G>A (n.*642G>A)
c.861G>A (p.Glu287=)
dbSNP gnomAD v4
1g.7663420G>CCA338121671CAMTA1c.873G>C (p.Glu291Asp)
c.*724G>C (n.*724G>C)
c.783G>C (p.Glu261Asp)
c.801G>C (p.Glu267Asp)
c.*642G>C (n.*642G>C)
c.861G>C (p.Glu287Asp)
1g.7663420G=CA1152023607CAMTA1c.873G= (p.Glu291=)
c.*724G= (n.*724G=)
c.783G= (p.Glu261=)
c.801G= (p.Glu267=)
c.*642G= (n.*642G=)
c.861G= (p.Glu287=)
1g.7663420G>TCA338121673CAMTA1c.873G>T (p.Glu291Asp)
c.*724G>T (n.*724G>T)
c.783G>T (p.Glu261Asp)
c.801G>T (p.Glu267Asp)
c.*642G>T (n.*642G>T)
c.861G>T (p.Glu287Asp)
1g.7663421C>ACA338121675CAMTA1c.874C>A (p.Pro292Thr)
c.*725C>A (n.*725C>A)
c.784C>A (p.Pro262Thr)
c.802C>A (p.Pro268Thr)
c.*643C>A (n.*643C>A)
c.862C>A (p.Pro288Thr)
gnomAD v4
1g.7663421C>GCA338121678CAMTA1c.874C>G (p.Pro292Ala)
c.*725C>G (n.*725C>G)
c.784C>G (p.Pro262Ala)
c.802C>G (p.Pro268Ala)
c.*643C>G (n.*643C>G)
c.862C>G (p.Pro288Ala)
1g.7663421C>TCA338121679CAMTA1c.874C>T (p.Pro292Ser)
c.*725C>T (n.*725C>T)
c.784C>T (p.Pro262Ser)
c.802C>T (p.Pro268Ser)
c.*643C>T (n.*643C>T)
c.862C>T (p.Pro288Ser)
gnomAD v4
1g.7663422C>ACA338121681CAMTA1c.875C>A (p.Pro292Gln)
c.*726C>A (n.*726C>A)
c.785C>A (p.Pro262Gln)
c.803C>A (p.Pro268Gln)
c.*644C>A (n.*644C>A)
c.863C>A (p.Pro288Gln)
gnomAD v4
1g.7663422C=CA1152023608CAMTA1c.875C= (p.Pro292=)
c.*726C= (n.*726C=)
c.785C= (p.Pro262=)
c.803C= (p.Pro268=)
c.*644C= (n.*644C=)
c.863C= (p.Pro288=)
1g.7663422C>GCA338121684CAMTA1c.875C>G (p.Pro292Arg)
c.*726C>G (n.*726C>G)
c.785C>G (p.Pro262Arg)
c.803C>G (p.Pro268Arg)
c.*644C>G (n.*644C>G)
c.863C>G (p.Pro288Arg)
1g.7663422C>TCA566313CAMTA1c.875C>T (p.Pro292Leu)
c.*726C>T (n.*726C>T)
c.785C>T (p.Pro262Leu)
c.803C>T (p.Pro268Leu)
c.*644C>T (n.*644C>T)
c.863C>T (p.Pro288Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663423A>CCA416026360CAMTA1c.876A>C (p.Pro292=)
c.*727A>C (n.*727A>C)
c.786A>C (p.Pro262=)
c.804A>C (p.Pro268=)
c.*645A>C (n.*645A>C)
c.864A>C (p.Pro288=)
1g.7663423A>GCA416026362CAMTA1c.876A>G (p.Pro292=)
c.*727A>G (n.*727A>G)
c.786A>G (p.Pro262=)
c.804A>G (p.Pro268=)
c.*645A>G (n.*645A>G)
c.864A>G (p.Pro288=)
1g.7663423A>TCA416026361CAMTA1c.876A>T (p.Pro292=)
c.*727A>T (n.*727A>T)
c.786A>T (p.Pro262=)
c.804A>T (p.Pro268=)
c.*645A>T (n.*645A>T)
c.864A>T (p.Pro288=)
1g.7663424C>ACA416026363CAMTA1c.877C>A (p.Arg293=)
c.*728C>A (n.*728C>A)
c.787C>A (p.Arg263=)
c.805C>A (p.Arg269=)
c.*646C>A (n.*646C>A)
c.865C>A (p.Arg289=)
gnomAD v4
1g.7663424C=CA1152023609CAMTA1c.877C= (p.Arg293=)
c.*728C= (n.*728C=)
c.787C= (p.Arg263=)
c.805C= (p.Arg269=)
c.*646C= (n.*646C=)
c.865C= (p.Arg289=)
1g.7663424C>GCA338121690CAMTA1c.877C>G (p.Arg293Gly)
c.*728C>G (n.*728C>G)
c.787C>G (p.Arg263Gly)
c.805C>G (p.Arg269Gly)
c.*646C>G (n.*646C>G)
c.865C>G (p.Arg289Gly)
1g.7663424C>TCA338121691CAMTA1c.877C>T (p.Arg293Trp)
c.*728C>T (n.*728C>T)
c.787C>T (p.Arg263Trp)
c.805C>T (p.Arg269Trp)
c.*646C>T (n.*646C>T)
c.865C>T (p.Arg289Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.7663425G>ACA566314CAMTA1c.878G>A (p.Arg293Gln)
c.*729G>A (n.*729G>A)
c.788G>A (p.Arg263Gln)
c.806G>A (p.Arg269Gln)
c.*647G>A (n.*647G>A)
c.866G>A (p.Arg289Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663425G>CCA338121698CAMTA1c.878G>C (p.Arg293Pro)
c.*729G>C (n.*729G>C)
c.788G>C (p.Arg263Pro)
c.806G>C (p.Arg269Pro)
c.*647G>C (n.*647G>C)
c.866G>C (p.Arg289Pro)
1g.7663425G=CA1152023610CAMTA1c.878G= (p.Arg293=)
c.*729G= (n.*729G=)
c.788G= (p.Arg263=)
c.806G= (p.Arg269=)
c.*647G= (n.*647G=)
c.866G= (p.Arg289=)
1g.7663425G>TCA338121701CAMTA1c.878G>T (p.Arg293Leu)
c.*729G>T (n.*729G>T)
c.788G>T (p.Arg263Leu)
c.806G>T (p.Arg269Leu)
c.*647G>T (n.*647G>T)
c.866G>T (p.Arg289Leu)
gnomAD v4
1g.7663426G>ACA416026364CAMTA1c.879G>A (p.Arg293=)
c.*730G>A (n.*730G>A)
c.789G>A (p.Arg263=)
c.807G>A (p.Arg269=)
c.*648G>A (n.*648G>A)
c.867G>A (p.Arg289=)
1g.7663426G>CCA416026365CAMTA1c.879G>C (p.Arg293=)
c.*730G>C (n.*730G>C)
c.789G>C (p.Arg263=)
c.807G>C (p.Arg269=)
c.*648G>C (n.*648G>C)
c.867G>C (p.Arg289=)
1g.7663426G>TCA416026366CAMTA1c.879G>T (p.Arg293=)
c.*730G>T (n.*730G>T)
c.789G>T (p.Arg263=)
c.807G>T (p.Arg269=)
c.*648G>T (n.*648G>T)
c.867G>T (p.Arg289=)
gnomAD v4
1g.7663427A>CCA338121708CAMTA1c.880A>C (p.Thr294Pro)
c.*731A>C (n.*731A>C)
c.790A>C (p.Thr264Pro)
c.808A>C (p.Thr270Pro)
c.*649A>C (n.*649A>C)
c.868A>C (p.Thr290Pro)
1g.7663427A>GCA338121706CAMTA1c.880A>G (p.Thr294Ala)
c.*731A>G (n.*731A>G)
c.790A>G (p.Thr264Ala)
c.808A>G (p.Thr270Ala)
c.*649A>G (n.*649A>G)
c.868A>G (p.Thr290Ala)
gnomAD v4
1g.7663427A>TCA338121704CAMTA1c.880A>T (p.Thr294Ser)
c.*731A>T (n.*731A>T)
c.790A>T (p.Thr264Ser)
c.808A>T (p.Thr270Ser)
c.*649A>T (n.*649A>T)
c.868A>T (p.Thr290Ser)
1g.7663428C>ACA338121712CAMTA1c.881C>A (p.Thr294Lys)
c.*732C>A (n.*732C>A)
c.791C>A (p.Thr264Lys)
c.809C>A (p.Thr270Lys)
c.*650C>A (n.*650C>A)
c.869C>A (p.Thr290Lys)
gnomAD v4
1g.7663428C=CA1152023612CAMTA1c.881C= (p.Thr294=)
c.*732C= (n.*732C=)
c.791C= (p.Thr264=)
c.809C= (p.Thr270=)
c.*650C= (n.*650C=)
c.869C= (p.Thr290=)
1g.7663428C>GCA338121714CAMTA1c.881C>G (p.Thr294Arg)
c.*732C>G (n.*732C>G)
c.791C>G (p.Thr264Arg)
c.809C>G (p.Thr270Arg)
c.*650C>G (n.*650C>G)
c.869C>G (p.Thr290Arg)
dbSNP gnomAD v3 gnomAD v4
1g.7663428C>TCA338121719CAMTA1c.881C>T (p.Thr294Ile)
c.*732C>T (n.*732C>T)
c.791C>T (p.Thr264Ile)
c.809C>T (p.Thr270Ile)
c.*650C>T (n.*650C>T)
c.869C>T (p.Thr290Ile)
1g.7663428_7663429delinsCACA1152023611CAMTA1c.881_882delinsCA (p.Thr294=)
c.*732_*733delinsCA (n.*732_*733delinsCA)
c.791_792delinsCA (p.Thr264=)
c.809_810delinsCA (p.Thr270=)
c.*650_*651delinsCA (n.*650_*651delinsCA)
c.869_870delinsCA (p.Thr290=)
1g.7663429delCA10602797CAMTA1c.882del (p.Tyr297ThrfsTer?)
c.*733del (n.*733del)
c.792del (p.Tyr267ThrfsTer?)
c.810del (p.Tyr273ThrfsTer?)
c.*651del (n.*651del)
c.870del (p.Tyr293ThrfsTer?)
ClinVar dbSNP gnomAD v4
1g.7663429A=CA1152023613CAMTA1c.882A= (p.Thr294=)
c.*733A= (n.*733A=)
c.792A= (p.Thr264=)
c.810A= (p.Thr270=)
c.*651A= (n.*651A=)
c.870A= (p.Thr290=)
1g.7663429A>CCA416026367CAMTA1c.882A>C (p.Thr294=)
c.*733A>C (n.*733A>C)
c.792A>C (p.Thr264=)
c.810A>C (p.Thr270=)
c.*651A>C (n.*651A>C)
c.870A>C (p.Thr290=)
gnomAD v4
1g.7663429A>GCA416026368CAMTA1c.882A>G (p.Thr294=)
c.*733A>G (n.*733A>G)
c.792A>G (p.Thr264=)
c.810A>G (p.Thr270=)
c.*651A>G (n.*651A>G)
c.870A>G (p.Thr290=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.7663429A>TCA416026369CAMTA1c.882A>T (p.Thr294=)
c.*733A>T (n.*733A>T)
c.792A>T (p.Thr264=)
c.810A>T (p.Thr270=)
c.*651A>T (n.*651A>T)
c.870A>T (p.Thr290=)
1g.7663429_7663430insCGCA16617188CAMTA1c.882_883insCG (p.Gly295ArgfsTer?)
c.*733_*734insCG (n.*733_*734insCG)
c.792_793insCG (p.Gly265ArgfsTer?)
c.810_811insCG (p.Gly271ArgfsTer?)
c.*651_*652insCG (n.*651_*652insCG)
c.870_871insCG (p.Gly291ArgfsTer?)
ClinVar dbSNP
1g.7663430G>ACA338121732CAMTA1c.883G>A (p.Gly295Arg)
c.*734G>A (n.*734G>A)
c.793G>A (p.Gly265Arg)
c.811G>A (p.Gly271Arg)
c.*652G>A (n.*652G>A)
c.871G>A (p.Gly291Arg)
ClinVar gnomAD v4
1g.7663430G>CCA17243861CAMTA1c.883G>C (p.Gly295Arg)
c.*734G>C (n.*734G>C)
c.793G>C (p.Gly265Arg)
c.811G>C (p.Gly271Arg)
c.*652G>C (n.*652G>C)
c.871G>C (p.Gly291Arg)
ClinVar dbSNP gnomAD v4
1g.7663430G=CA1152023614CAMTA1c.883G= (p.Gly295=)
c.*734G= (n.*734G=)
c.793G= (p.Gly265=)
c.811G= (p.Gly271=)
c.*652G= (n.*652G=)
c.871G= (p.Gly291=)
1g.7663430G>TCA338121737CAMTA1c.883G>T (p.Gly295Trp)
c.*734G>T (n.*734G>T)
c.793G>T (p.Gly265Trp)
c.811G>T (p.Gly271Trp)
c.*652G>T (n.*652G>T)
c.871G>T (p.Gly291Trp)
1g.7663435dupCA2643031704CAMTA1c.888dup (p.Tyr297ValfsTer11)
c.*739dup (n.*739dup)
c.798dup (p.Tyr267ValfsTer11)
c.816dup (p.Tyr273ValfsTer11)
c.*657dup (n.*657dup)
c.876dup (p.Tyr293ValfsTer11)
gnomAD v4
1g.7663435delCA416026370CAMTA1c.888del (p.Tyr297ThrfsTer?)
c.*739del (n.*739del)
c.798del (p.Tyr267ThrfsTer?)
c.816del (p.Tyr273ThrfsTer?)
c.*657del (n.*657del)
c.876del (p.Tyr293ThrfsTer?)
gnomAD v4 COSMIC
1g.7663431G>ACA17243868CAMTA1c.884G>A (p.Gly295Glu)
c.*735G>A (n.*735G>A)
c.794G>A (p.Gly265Glu)
c.812G>A (p.Gly271Glu)
c.*653G>A (n.*653G>A)
c.872G>A (p.Gly291Glu)
ClinVar dbSNP gnomAD v4
1g.7663431G>CCA566315CAMTA1c.884G>C (p.Gly295Ala)
c.*735G>C (n.*735G>C)
c.794G>C (p.Gly265Ala)
c.812G>C (p.Gly271Ala)
c.*653G>C (n.*653G>C)
c.872G>C (p.Gly291Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663431G=CA1152023615CAMTA1c.884G= (p.Gly295=)
c.*735G= (n.*735G=)
c.794G= (p.Gly265=)
c.812G= (p.Gly271=)
c.*653G= (n.*653G=)
c.872G= (p.Gly291=)
1g.7663431G>TCA338121745CAMTA1c.884G>T (p.Gly295Val)
c.*735G>T (n.*735G>T)
c.794G>T (p.Gly265Val)
c.812G>T (p.Gly271Val)
c.*653G>T (n.*653G>T)
c.872G>T (p.Gly291Val)
dbSNP gnomAD v4
1g.7663432G>ACA416026371CAMTA1c.885G>A (p.Gly295=)
c.*736G>A (n.*736G>A)
c.795G>A (p.Gly265=)
c.813G>A (p.Gly271=)
c.*654G>A (n.*654G>A)
c.873G>A (p.Gly291=)
gnomAD v4
1g.7663432G>CCA416026372CAMTA1c.885G>C (p.Gly295=)
c.*736G>C (n.*736G>C)
c.795G>C (p.Gly265=)
c.813G>C (p.Gly271=)
c.*654G>C (n.*654G>C)
c.873G>C (p.Gly291=)
1g.7663432G=CA1152023616CAMTA1c.885G= (p.Gly295=)
c.*736G= (n.*736G=)
c.795G= (p.Gly265=)
c.813G= (p.Gly271=)
c.*654G= (n.*654G=)
c.873G= (p.Gly291=)
1g.7663432G>TCA416026373CAMTA1c.885G>T (p.Gly295=)
c.*736G>T (n.*736G>T)
c.795G>T (p.Gly265=)
c.813G>T (p.Gly271=)
c.*654G>T (n.*654G>T)
c.873G>T (p.Gly291=)
dbSNP gnomAD v4
1g.7663433G>ACA338121750CAMTA1c.886G>A (p.Gly296Arg)
c.*737G>A (n.*737G>A)
c.796G>A (p.Gly266Arg)
c.814G>A (p.Gly272Arg)
c.*655G>A (n.*655G>A)
c.874G>A (p.Gly292Arg)
dbSNP gnomAD v3 gnomAD v4
1g.7663433G>CCA338121752CAMTA1c.886G>C (p.Gly296Arg)
c.*737G>C (n.*737G>C)
c.796G>C (p.Gly266Arg)
c.814G>C (p.Gly272Arg)
c.*655G>C (n.*655G>C)
c.874G>C (p.Gly292Arg)
1g.7663433G=CA1152023617CAMTA1c.886G= (p.Gly296=)
c.*737G= (n.*737G=)
c.796G= (p.Gly266=)
c.814G= (p.Gly272=)
c.*655G= (n.*655G=)
c.874G= (p.Gly292=)
1g.7663433G>TCA338121754CAMTA1c.886G>T (p.Gly296Trp)
c.*737G>T (n.*737G>T)
c.796G>T (p.Gly266Trp)
c.814G>T (p.Gly272Trp)
c.*655G>T (n.*655G>T)
c.874G>T (p.Gly292Trp)
dbSNP gnomAD v4
1g.7663434G>ACA338121760CAMTA1c.887G>A (p.Gly296Glu)
c.*738G>A (n.*738G>A)
c.797G>A (p.Gly266Glu)
c.815G>A (p.Gly272Glu)
c.*656G>A (n.*656G>A)
c.875G>A (p.Gly292Glu)
gnomAD v4 COSMIC COSMIC
1g.7663434G>CCA566316CAMTA1c.887G>C (p.Gly296Ala)
c.*738G>C (n.*738G>C)
c.797G>C (p.Gly266Ala)
c.815G>C (p.Gly272Ala)
c.*656G>C (n.*656G>C)
c.875G>C (p.Gly292Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663434G=CA1152023618CAMTA1c.887G= (p.Gly296=)
c.*738G= (n.*738G=)
c.797G= (p.Gly266=)
c.815G= (p.Gly272=)
c.*656G= (n.*656G=)
c.875G= (p.Gly292=)
1g.7663434G>TCA338121758CAMTA1c.887G>T (p.Gly296Val)
c.*738G>T (n.*738G>T)
c.797G>T (p.Gly266Val)
c.815G>T (p.Gly272Val)
c.*656G>T (n.*656G>T)
c.875G>T (p.Gly292Val)
gnomAD v4
1g.7663435G>ACA566317CAMTA1c.888G>A (p.Gly296=)
c.*739G>A (n.*739G>A)
c.798G>A (p.Gly266=)
c.816G>A (p.Gly272=)
c.*657G>A (n.*657G>A)
c.876G>A (p.Gly292=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663435G>CCA416026374CAMTA1c.888G>C (p.Gly296=)
c.*739G>C (n.*739G>C)
c.798G>C (p.Gly266=)
c.816G>C (p.Gly272=)
c.*657G>C (n.*657G>C)
c.876G>C (p.Gly292=)
gnomAD v4
1g.7663435G=CA1152023619CAMTA1c.888G= (p.Gly296=)
c.*739G= (n.*739G=)
c.798G= (p.Gly266=)
c.816G= (p.Gly272=)
c.*657G= (n.*657G=)
c.876G= (p.Gly292=)
1g.7663435G>TCA416026375CAMTA1c.888G>T (p.Gly296=)
c.*739G>T (n.*739G>T)
c.798G>T (p.Gly266=)
c.816G>T (p.Gly272=)
c.*657G>T (n.*657G>T)
c.876G>T (p.Gly292=)
gnomAD v4
1g.7663436T>ACA338121768CAMTA1c.889T>A (p.Tyr297Asn)
c.*740T>A (n.*740T>A)
c.799T>A (p.Tyr267Asn)
c.817T>A (p.Tyr273Asn)
c.*658T>A (n.*658T>A)
c.877T>A (p.Tyr293Asn)
1g.7663436T>CCA338121772CAMTA1c.889T>C (p.Tyr297His)
c.*740T>C (n.*740T>C)
c.799T>C (p.Tyr267His)
c.817T>C (p.Tyr273His)
c.*658T>C (n.*658T>C)
c.877T>C (p.Tyr293His)
gnomAD v4
1g.7663436T>GCA338121770CAMTA1c.889T>G (p.Tyr297Asp)
c.*740T>G (n.*740T>G)
c.799T>G (p.Tyr267Asp)
c.817T>G (p.Tyr273Asp)
c.*658T>G (n.*658T>G)
c.877T>G (p.Tyr293Asp)
1g.7663437A=CA1152023620CAMTA1c.890A= (p.Tyr297=)
c.*741A= (n.*741A=)
c.800A= (p.Tyr267=)
c.818A= (p.Tyr273=)
c.*659A= (n.*659A=)
c.878A= (p.Tyr293=)
1g.7663437A>CCA338121774CAMTA1c.890A>C (p.Tyr297Ser)
c.*741A>C (n.*741A>C)
c.800A>C (p.Tyr267Ser)
c.818A>C (p.Tyr273Ser)
c.*659A>C (n.*659A>C)
c.878A>C (p.Tyr293Ser)
1g.7663437A>GCA566318CAMTA1c.890A>G (p.Tyr297Cys)
c.*741A>G (n.*741A>G)
c.800A>G (p.Tyr267Cys)
c.818A>G (p.Tyr273Cys)
c.*659A>G (n.*659A>G)
c.878A>G (p.Tyr293Cys)
dbSNP ExAC
1g.7663437A>TCA338121776CAMTA1c.890A>T (p.Tyr297Phe)
c.*741A>T (n.*741A>T)
c.800A>T (p.Tyr267Phe)
c.818A>T (p.Tyr273Phe)
c.*659A>T (n.*659A>T)
c.878A>T (p.Tyr293Phe)
1g.7663438C>ACA338121781CAMTA1c.891C>A (p.Tyr297Ter)
c.*742C>A (n.*742C>A)
c.801C>A (p.Tyr267Ter)
c.819C>A (p.Tyr273Ter)
c.*660C>A (n.*660C>A)
c.879C>A (p.Tyr293Ter)
gnomAD v4
1g.7663438C=CA1152023621CAMTA1c.891C= (p.Tyr297=)
c.*742C= (n.*742C=)
c.801C= (p.Tyr267=)
c.819C= (p.Tyr273=)
c.*660C= (n.*660C=)
c.879C= (p.Tyr293=)
1g.7663438C>GCA566319CAMTA1c.891C>G (p.Tyr297Ter)
c.*742C>G (n.*742C>G)
c.801C>G (p.Tyr267Ter)
c.819C>G (p.Tyr273Ter)
c.*660C>G (n.*660C>G)
c.879C>G (p.Tyr293Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663438C>TCA566320CAMTA1c.891C>T (p.Tyr297=)
c.*742C>T (n.*742C>T)
c.801C>T (p.Tyr267=)
c.819C>T (p.Tyr273=)
c.*660C>T (n.*660C>T)
c.879C>T (p.Tyr293=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663439G>ACA566321CAMTA1c.892G>A (p.Gly298Arg)
c.*743G>A (n.*743G>A)
c.802G>A (p.Gly268Arg)
c.820G>A (p.Gly274Arg)
c.*661G>A (n.*661G>A)
c.880G>A (p.Gly294Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663439G>CCA338121783CAMTA1c.892G>C (p.Gly298Arg)
c.*743G>C (n.*743G>C)
c.802G>C (p.Gly268Arg)
c.820G>C (p.Gly274Arg)
c.*661G>C (n.*661G>C)
c.880G>C (p.Gly294Arg)
1g.7663439G=CA1152023622CAMTA1c.892G= (p.Gly298=)
c.*743G= (n.*743G=)
c.802G= (p.Gly268=)
c.820G= (p.Gly274=)
c.*661G= (n.*661G=)
c.880G= (p.Gly294=)
1g.7663439G>TCA338121784CAMTA1c.892G>T (p.Gly298Trp)
c.*743G>T (n.*743G>T)
c.802G>T (p.Gly268Trp)
c.820G>T (p.Gly274Trp)
c.*661G>T (n.*661G>T)
c.880G>T (p.Gly294Trp)
gnomAD v4
1g.7663440G>ACA16603758CAMTA1c.893G>A (p.Gly298Glu)
c.*744G>A (n.*744G>A)
c.803G>A (p.Gly268Glu)
c.821G>A (p.Gly274Glu)
c.*662G>A (n.*662G>A)
c.881G>A (p.Gly294Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663440G>CCA338121788CAMTA1c.893G>C (p.Gly298Ala)
c.*744G>C (n.*744G>C)
c.803G>C (p.Gly268Ala)
c.821G>C (p.Gly274Ala)
c.*662G>C (n.*662G>C)
c.881G>C (p.Gly294Ala)
1g.7663440G=CA1152023623CAMTA1c.893G= (p.Gly298=)
c.*744G= (n.*744G=)
c.803G= (p.Gly268=)
c.821G= (p.Gly274=)
c.*662G= (n.*662G=)
c.881G= (p.Gly294=)
1g.7663440G>TCA338121791CAMTA1c.893G>T (p.Gly298Val)
c.*744G>T (n.*744G>T)
c.803G>T (p.Gly268Val)
c.821G>T (p.Gly274Val)
c.*662G>T (n.*662G>T)
c.881G>T (p.Gly294Val)
dbSNP gnomAD v2 gnomAD v4
1g.7663441G>ACA566322CAMTA1c.894G>A (p.Gly298=)
c.*745G>A (n.*745G>A)
c.804G>A (p.Gly268=)
c.822G>A (p.Gly274=)
c.*663G>A (n.*663G>A)
c.882G>A (p.Gly294=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663441G>CCA416026377CAMTA1c.894G>C (p.Gly298=)
c.*745G>C (n.*745G>C)
c.804G>C (p.Gly268=)
c.822G>C (p.Gly274=)
c.*663G>C (n.*663G>C)
c.882G>C (p.Gly294=)
COSMIC
1g.7663441G=CA1152023624CAMTA1c.894G= (p.Gly298=)
c.*745G= (n.*745G=)
c.804G= (p.Gly268=)
c.822G= (p.Gly274=)
c.*663G= (n.*663G=)
c.882G= (p.Gly294=)
1g.7663441G>TCA416026376CAMTA1c.894G>T (p.Gly298=)
c.*745G>T (n.*745G>T)
c.804G>T (p.Gly268=)
c.822G>T (p.Gly274=)
c.*663G>T (n.*663G>T)
c.882G>T (p.Gly294=)
dbSNP gnomAD v2 gnomAD v4
1g.7663442A>CCA338121794CAMTA1c.895A>C (p.Ser299Arg)
c.*746A>C (n.*746A>C)
c.805A>C (p.Ser269Arg)
c.823A>C (p.Ser275Arg)
c.*664A>C (n.*664A>C)
c.883A>C (p.Ser295Arg)
1g.7663442A>GCA338121797CAMTA1c.895A>G (p.Ser299Gly)
c.*746A>G (n.*746A>G)
c.805A>G (p.Ser269Gly)
c.823A>G (p.Ser275Gly)
c.*664A>G (n.*664A>G)
c.883A>G (p.Ser295Gly)
gnomAD v4
1g.7663442A>TCA338121799CAMTA1c.895A>T (p.Ser299Cys)
c.*746A>T (n.*746A>T)
c.805A>T (p.Ser269Cys)
c.823A>T (p.Ser275Cys)
c.*664A>T (n.*664A>T)
c.883A>T (p.Ser295Cys)
1g.7663443G>ACA338121802CAMTA1c.896G>A (p.Ser299Asn)
c.*747G>A (n.*747G>A)
c.806G>A (p.Ser269Asn)
c.824G>A (p.Ser275Asn)
c.*665G>A (n.*665G>A)
c.884G>A (p.Ser295Asn)
gnomAD v4
1g.7663443G>CCA338121805CAMTA1c.896G>C (p.Ser299Thr)
c.*747G>C (n.*747G>C)
c.806G>C (p.Ser269Thr)
c.824G>C (p.Ser275Thr)
c.*665G>C (n.*665G>C)
c.884G>C (p.Ser295Thr)
1g.7663443G=CA1152023625CAMTA1c.896G= (p.Ser299=)
c.*747G= (n.*747G=)
c.806G= (p.Ser269=)
c.824G= (p.Ser275=)
c.*665G= (n.*665G=)
c.884G= (p.Ser295=)
1g.7663443G>TCA338121807CAMTA1c.896G>T (p.Ser299Ile)
c.*747G>T (n.*747G>T)
c.806G>T (p.Ser269Ile)
c.824G>T (p.Ser275Ile)
c.*665G>T (n.*665G>T)
c.884G>T (p.Ser295Ile)
dbSNP gnomAD v2 gnomAD v4
1g.7663444C>ACA338121809CAMTA1c.897C>A (p.Ser299Arg)
c.*748C>A (n.*748C>A)
c.807C>A (p.Ser269Arg)
c.825C>A (p.Ser275Arg)
c.*666C>A (n.*666C>A)
c.885C>A (p.Ser295Arg)
gnomAD v4
1g.7663444C=CA1152023626CAMTA1c.897C= (p.Ser299=)
c.*748C= (n.*748C=)
c.807C= (p.Ser269=)
c.825C= (p.Ser275=)
c.*666C= (n.*666C=)
c.885C= (p.Ser295=)
1g.7663444C>GCA338121810CAMTA1c.897C>G (p.Ser299Arg)
c.*748C>G (n.*748C>G)
c.807C>G (p.Ser269Arg)
c.825C>G (p.Ser275Arg)
c.*666C>G (n.*666C>G)
c.885C>G (p.Ser295Arg)
1g.7663444C>TCA416026378CAMTA1c.897C>T (p.Ser299=)
c.*748C>T (n.*748C>T)
c.807C>T (p.Ser269=)
c.825C>T (p.Ser275=)
c.*666C>T (n.*666C>T)
c.885C>T (p.Ser295=)
dbSNP gnomAD v2 gnomAD v4
1g.7663445C>ACA338121814CAMTA1c.898C>A (p.His300Asn)
c.*749C>A (n.*749C>A)
c.808C>A (p.His270Asn)
c.826C>A (p.His276Asn)
c.*667C>A (n.*667C>A)
c.886C>A (p.His296Asn)
1g.7663445C>GCA338121817CAMTA1c.898C>G (p.His300Asp)
c.*749C>G (n.*749C>G)
c.808C>G (p.His270Asp)
c.826C>G (p.His276Asp)
c.*667C>G (n.*667C>G)
c.886C>G (p.His296Asp)
1g.7663445C>TCA338121821CAMTA1c.898C>T (p.His300Tyr)
c.*749C>T (n.*749C>T)
c.808C>T (p.His270Tyr)
c.826C>T (p.His276Tyr)
c.*667C>T (n.*667C>T)
c.886C>T (p.His296Tyr)
gnomAD v4
1g.7663446A>CCA338121823CAMTA1c.899A>C (p.His300Pro)
c.*750A>C (n.*750A>C)
c.809A>C (p.His270Pro)
c.827A>C (p.His276Pro)
c.*668A>C (n.*668A>C)
c.887A>C (p.His296Pro)
1g.7663446A>GCA338121824CAMTA1c.899A>G (p.His300Arg)
c.*750A>G (n.*750A>G)
c.809A>G (p.His270Arg)
c.827A>G (p.His276Arg)
c.*668A>G (n.*668A>G)
c.887A>G (p.His296Arg)
1g.7663446A>TCA338121825CAMTA1c.899A>T (p.His300Leu)
c.*750A>T (n.*750A>T)
c.809A>T (p.His270Leu)
c.827A>T (p.His276Leu)
c.*668A>T (n.*668A>T)
c.887A>T (p.His296Leu)
gnomAD v4
1g.7663447C>ACA338121826CAMTA1c.900C>A (p.His300Gln)
c.*751C>A (n.*751C>A)
c.810C>A (p.His270Gln)
c.828C>A (p.His276Gln)
c.*669C>A (n.*669C>A)
c.888C>A (p.His296Gln)
gnomAD v4
1g.7663447C>GCA338121827CAMTA1c.900C>G (p.His300Gln)
c.*751C>G (n.*751C>G)
c.810C>G (p.His270Gln)
c.828C>G (p.His276Gln)
c.*669C>G (n.*669C>G)
c.888C>G (p.His296Gln)
1g.7663447C>TCA416026379CAMTA1c.900C>T (p.His300=)
c.*751C>T (n.*751C>T)
c.810C>T (p.His270=)
c.828C>T (p.His276=)
c.*669C>T (n.*669C>T)
c.888C>T (p.His296=)
1g.7663448T>ACA338121828CAMTA1c.901T>A (p.Ser301Thr)
c.*752T>A (n.*752T>A)
c.811T>A (p.Ser271Thr)
c.829T>A (p.Ser277Thr)
c.*670T>A (n.*670T>A)
c.889T>A (p.Ser297Thr)
1g.7663448T>CCA338121829CAMTA1c.901T>C (p.Ser301Pro)
c.*752T>C (n.*752T>C)
c.811T>C (p.Ser271Pro)
c.829T>C (p.Ser277Pro)
c.*670T>C (n.*670T>C)
c.889T>C (p.Ser297Pro)
1g.7663448T>GCA338121833CAMTA1c.901T>G (p.Ser301Ala)
c.*752T>G (n.*752T>G)
c.811T>G (p.Ser271Ala)
c.829T>G (p.Ser277Ala)
c.*670T>G (n.*670T>G)
c.889T>G (p.Ser297Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663448T=CA1152023627CAMTA1c.901T= (p.Ser301=)
c.*752T= (n.*752T=)
c.811T= (p.Ser271=)
c.829T= (p.Ser277=)
c.*670T= (n.*670T=)
c.889T= (p.Ser297=)
1g.7663449C>ACA338121840CAMTA1c.902C>A (p.Ser301Ter)
c.*753C>A (n.*753C>A)
c.812C>A (p.Ser271Ter)
c.830C>A (p.Ser277Ter)
c.*671C>A (n.*671C>A)
c.890C>A (p.Ser297Ter)
gnomAD v4
1g.7663449C=CA1148233100CAMTA1c.902C= (p.Ser301=)
c.*753C= (n.*753C=)
c.812C= (p.Ser271=)
c.830C= (p.Ser277=)
c.*671C= (n.*671C=)
c.890C= (p.Ser297=)
1g.7663449C>GCA566323CAMTA1c.902C>G (p.Ser301Trp)
c.*753C>G (n.*753C>G)
c.812C>G (p.Ser271Trp)
c.830C>G (p.Ser277Trp)
c.*671C>G (n.*671C>G)
c.890C>G (p.Ser297Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663449C>TCA338121841CAMTA1c.902C>T (p.Ser301Leu)
c.*753C>T (n.*753C>T)
c.812C>T (p.Ser271Leu)
c.830C>T (p.Ser277Leu)
c.*671C>T (n.*671C>T)
c.890C>T (p.Ser297Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663450G>ACA566325CAMTA1c.903G>A (p.Ser301=)
c.*754G>A (n.*754G>A)
c.813G>A (p.Ser271=)
c.831G>A (p.Ser277=)
c.*672G>A (n.*672G>A)
c.891G>A (p.Ser297=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663450G>CCA566324CAMTA1c.903G>C (p.Ser301=)
c.*754G>C (n.*754G>C)
c.813G>C (p.Ser271=)
c.831G>C (p.Ser277=)
c.*672G>C (n.*672G>C)
c.891G>C (p.Ser297=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663450G=CA1144105843CAMTA1c.903G= (p.Ser301=)
c.*754G= (n.*754G=)
c.813G= (p.Ser271=)
c.831G= (p.Ser277=)
c.*672G= (n.*672G=)
c.891G= (p.Ser297=)
1g.7663450G>TCA416026380CAMTA1c.903G>T (p.Ser301=)
c.*754G>T (n.*754G>T)
c.813G>T (p.Ser271=)
c.831G>T (p.Ser277=)
c.*672G>T (n.*672G>T)
c.891G>T (p.Ser297=)
gnomAD v4
1g.7663451G>ACA338121844CAMTA1c.904G>A (p.Glu302Lys)
c.*755G>A (n.*755G>A)
c.814G>A (p.Glu272Lys)
c.832G>A (p.Glu278Lys)
c.*673G>A (n.*673G>A)
c.892G>A (p.Glu298Lys)
1g.7663451G>CCA338121847CAMTA1c.904G>C (p.Glu302Gln)
c.*755G>C (n.*755G>C)
c.814G>C (p.Glu272Gln)
c.832G>C (p.Glu278Gln)
c.*673G>C (n.*673G>C)
c.892G>C (p.Glu298Gln)
1g.7663451G>TCA338121849CAMTA1c.904G>T (p.Glu302Ter)
c.*755G>T (n.*755G>T)
c.814G>T (p.Glu272Ter)
c.832G>T (p.Glu278Ter)
c.*673G>T (n.*673G>T)
c.892G>T (p.Glu298Ter)
1g.7663452A>CCA338121852CAMTA1c.905A>C (p.Glu302Ala)
c.*756A>C (n.*756A>C)
c.815A>C (p.Glu272Ala)
c.833A>C (p.Glu278Ala)
c.*674A>C (n.*674A>C)
c.893A>C (p.Glu298Ala)
1g.7663452A>GCA338121855CAMTA1c.905A>G (p.Glu302Gly)
c.*756A>G (n.*756A>G)
c.815A>G (p.Glu272Gly)
c.833A>G (p.Glu278Gly)
c.*674A>G (n.*674A>G)
c.893A>G (p.Glu298Gly)
gnomAD v4
1g.7663452A>TCA338121857CAMTA1c.905A>T (p.Glu302Val)
c.*756A>T (n.*756A>T)
c.815A>T (p.Glu272Val)
c.833A>T (p.Glu278Val)
c.*674A>T (n.*674A>T)
c.893A>T (p.Glu298Val)
1g.7663453G>ACA416026381CAMTA1c.906G>A (p.Glu302=)
c.*757G>A (n.*757G>A)
c.816G>A (p.Glu272=)
c.834G>A (p.Glu278=)
c.*675G>A (n.*675G>A)
c.894G>A (p.Glu298=)
gnomAD v4
1g.7663453G>CCA338121872CAMTA1c.906G>C (p.Glu302Asp)
c.*757G>C (n.*757G>C)
c.816G>C (p.Glu272Asp)
c.834G>C (p.Glu278Asp)
c.*675G>C (n.*675G>C)
c.894G>C (p.Glu298Asp)
1g.7663453G>TCA338121860CAMTA1c.906G>T (p.Glu302Asp)
c.*757G>T (n.*757G>T)
c.816G>T (p.Glu272Asp)
c.834G>T (p.Glu278Asp)
c.*675G>T (n.*675G>T)
c.894G>T (p.Glu298Asp)
1g.7663454G>ACA338121876CAMTA1c.907G>A (p.Val303Met)
c.*758G>A (n.*758G>A)
c.817G>A (p.Val273Met)
c.835G>A (p.Val279Met)
c.*676G>A (n.*676G>A)
c.895G>A (p.Val299Met)
gnomAD v4
1g.7663454G>CCA338121878CAMTA1c.907G>C (p.Val303Leu)
c.*758G>C (n.*758G>C)
c.817G>C (p.Val273Leu)
c.835G>C (p.Val279Leu)
c.*676G>C (n.*676G>C)
c.895G>C (p.Val299Leu)
1g.7663454G>TCA338121885CAMTA1c.907G>T (p.Val303Leu)
c.*758G>T (n.*758G>T)
c.817G>T (p.Val273Leu)
c.835G>T (p.Val279Leu)
c.*676G>T (n.*676G>T)
c.895G>T (p.Val299Leu)
1g.7663455T>ACA338121889CAMTA1c.908T>A (p.Val303Glu)
c.*759T>A (n.*759T>A)
c.818T>A (p.Val273Glu)
c.836T>A (p.Val279Glu)
c.*677T>A (n.*677T>A)
c.896T>A (p.Val299Glu)
1g.7663455T>CCA338121893CAMTA1c.908T>C (p.Val303Ala)
c.*759T>C (n.*759T>C)
c.818T>C (p.Val273Ala)
c.836T>C (p.Val279Ala)
c.*677T>C (n.*677T>C)
c.896T>C (p.Val299Ala)
gnomAD v4
1g.7663455T>GCA338121896CAMTA1c.908T>G (p.Val303Gly)
c.*759T>G (n.*759T>G)
c.818T>G (p.Val273Gly)
c.836T>G (p.Val279Gly)
c.*677T>G (n.*677T>G)
c.896T>G (p.Val299Gly)
dbSNP
1g.7663455T=CA1152023628CAMTA1c.908T= (p.Val303=)
c.*759T= (n.*759T=)
c.818T= (p.Val273=)
c.836T= (p.Val279=)
c.*677T= (n.*677T=)
c.896T= (p.Val299=)
1g.7663456G>ACA416026382CAMTA1c.909G>A (p.Val303=)
c.*760G>A (n.*760G>A)
c.819G>A (p.Val273=)
c.837G>A (p.Val279=)
c.*678G>A (n.*678G>A)
c.897G>A (p.Val299=)
dbSNP gnomAD v2 gnomAD v4
1g.7663456G>CCA416026383CAMTA1c.909G>C (p.Val303=)
c.*760G>C (n.*760G>C)
c.819G>C (p.Val273=)
c.837G>C (p.Val279=)
c.*678G>C (n.*678G>C)
c.897G>C (p.Val299=)
1g.7663456G=CA1152023629CAMTA1c.909G= (p.Val303=)
c.*760G= (n.*760G=)
c.819G= (p.Val273=)
c.837G= (p.Val279=)
c.*678G= (n.*678G=)
c.897G= (p.Val299=)
1g.7663456G>TCA416026384CAMTA1c.909G>T (p.Val303=)
c.*760G>T (n.*760G>T)
c.819G>T (p.Val273=)
c.837G>T (p.Val279=)
c.*678G>T (n.*678G>T)
c.897G>T (p.Val299=)
1g.7663457C>ACA338121905CAMTA1c.910C>A (p.Gln304Lys)
c.*761C>A (n.*761C>A)
c.820C>A (p.Gln274Lys)
c.838C>A (p.Gln280Lys)
c.*679C>A (n.*679C>A)
c.898C>A (p.Gln300Lys)
gnomAD v4
1g.7663457C=CA1152023630CAMTA1c.910C= (p.Gln304=)
c.*761C= (n.*761C=)
c.820C= (p.Gln274=)
c.838C= (p.Gln280=)
c.*679C= (n.*679C=)
c.898C= (p.Gln300=)
1g.7663457C>GCA338121900CAMTA1c.910C>G (p.Gln304Glu)
c.*761C>G (n.*761C>G)
c.820C>G (p.Gln274Glu)
c.838C>G (p.Gln280Glu)
c.*679C>G (n.*679C>G)
c.898C>G (p.Gln300Glu)
1g.7663457C>TCA17243904CAMTA1c.910C>T (p.Gln304Ter)
c.*761C>T (n.*761C>T)
c.820C>T (p.Gln274Ter)
c.838C>T (p.Gln280Ter)
c.*679C>T (n.*679C>T)
c.898C>T (p.Gln300Ter)
dbSNP gnomAD v4
1g.7663458A=CA1149061314CAMTA1c.911A= (p.Gln304=)
c.*762A= (n.*762A=)
c.821A= (p.Gln274=)
c.839A= (p.Gln280=)
c.*680A= (n.*680A=)
c.899A= (p.Gln300=)
1g.7663458A>CCA566326CAMTA1c.911A>C (p.Gln304Pro)
c.*762A>C (n.*762A>C)
c.821A>C (p.Gln274Pro)
c.839A>C (p.Gln280Pro)
c.*680A>C (n.*680A>C)
c.899A>C (p.Gln300Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663458A>GCA338121910CAMTA1c.911A>G (p.Gln304Arg)
c.*762A>G (n.*762A>G)
c.821A>G (p.Gln274Arg)
c.839A>G (p.Gln280Arg)
c.*680A>G (n.*680A>G)
c.899A>G (p.Gln300Arg)
1g.7663458A>TCA338121912CAMTA1c.911A>T (p.Gln304Leu)
c.*762A>T (n.*762A>T)
c.821A>T (p.Gln274Leu)
c.839A>T (p.Gln280Leu)
c.*680A>T (n.*680A>T)
c.899A>T (p.Gln300Leu)
1g.7663459G>ACA17243911CAMTA1c.912G>A (p.Gln304=)
c.*763G>A (n.*763G>A)
c.822G>A (p.Gln274=)
c.840G>A (p.Gln280=)
c.*681G>A (n.*681G>A)
c.900G>A (p.Gln300=)
dbSNP gnomAD v4
1g.7663459G>CCA338121913CAMTA1c.912G>C (p.Gln304His)
c.*763G>C (n.*763G>C)
c.822G>C (p.Gln274His)
c.840G>C (p.Gln280His)
c.*681G>C (n.*681G>C)
c.900G>C (p.Gln300His)
1g.7663459G=CA1152023631CAMTA1c.912G= (p.Gln304=)
c.*763G= (n.*763G=)
c.822G= (p.Gln274=)
c.840G= (p.Gln280=)
c.*681G= (n.*681G=)
c.900G= (p.Gln300=)
1g.7663459G>TCA338121914CAMTA1c.912G>T (p.Gln304His)
c.*763G>T (n.*763G>T)
c.822G>T (p.Gln274His)
c.840G>T (p.Gln280His)
c.*681G>T (n.*681G>T)
c.900G>T (p.Gln300His)
1g.7663460C>ACA338121915CAMTA1c.913C>A (p.His305Asn)
c.*764C>A (n.*764C>A)
c.823C>A (p.His275Asn)
c.841C>A (p.His281Asn)
c.*682C>A (n.*682C>A)
c.901C>A (p.His301Asn)
gnomAD v4
1g.7663460C>GCA338121917CAMTA1c.913C>G (p.His305Asp)
c.*764C>G (n.*764C>G)
c.823C>G (p.His275Asp)
c.841C>G (p.His281Asp)
c.*682C>G (n.*682C>G)
c.901C>G (p.His301Asp)
1g.7663460C>TCA338121916CAMTA1c.913C>T (p.His305Tyr)
c.*764C>T (n.*764C>T)
c.823C>T (p.His275Tyr)
c.841C>T (p.His281Tyr)
c.*682C>T (n.*682C>T)
c.901C>T (p.His301Tyr)
gnomAD v4
1g.7663461A>CCA338121919CAMTA1c.914A>C (p.His305Pro)
c.*765A>C (n.*765A>C)
c.824A>C (p.His275Pro)
c.842A>C (p.His281Pro)
c.*683A>C (n.*683A>C)
c.902A>C (p.His301Pro)
1g.7663461A>GCA338121921CAMTA1c.914A>G (p.His305Arg)
c.*765A>G (n.*765A>G)
c.824A>G (p.His275Arg)
c.842A>G (p.His281Arg)
c.*683A>G (n.*683A>G)
c.902A>G (p.His301Arg)
1g.7663461A>TCA338121924CAMTA1c.914A>T (p.His305Leu)
c.*765A>T (n.*765A>T)
c.824A>T (p.His275Leu)
c.842A>T (p.His281Leu)
c.*683A>T (n.*683A>T)
c.902A>T (p.His301Leu)
1g.7663462C>ACA338121928CAMTA1c.915C>A (p.His305Gln)
c.*766C>A (n.*766C>A)
c.825C>A (p.His275Gln)
c.843C>A (p.His281Gln)
c.*684C>A (n.*684C>A)
c.903C>A (p.His301Gln)
gnomAD v4
1g.7663462C>GCA338121931CAMTA1c.915C>G (p.His305Gln)
c.*766C>G (n.*766C>G)
c.825C>G (p.His275Gln)
c.843C>G (p.His281Gln)
c.*684C>G (n.*684C>G)
c.903C>G (p.His301Gln)
1g.7663462C>TCA416026385CAMTA1c.915C>T (p.His305=)
c.*766C>T (n.*766C>T)
c.825C>T (p.His275=)
c.843C>T (p.His281=)
c.*684C>T (n.*684C>T)
c.903C>T (p.His301=)
1g.7663463A>CCA338121933CAMTA1c.916A>C (p.Asn306His)
c.*767A>C (n.*767A>C)
c.826A>C (p.Asn276His)
c.844A>C (p.Asn282His)
c.*685A>C (n.*685A>C)
c.904A>C (p.Asn302His)
1g.7663463A>GCA338121945CAMTA1c.916A>G (p.Asn306Asp)
c.*767A>G (n.*767A>G)
c.826A>G (p.Asn276Asp)
c.844A>G (p.Asn282Asp)
c.*685A>G (n.*685A>G)
c.904A>G (p.Asn302Asp)
1g.7663463A>TCA338121948CAMTA1c.916A>T (p.Asn306Tyr)
c.*767A>T (n.*767A>T)
c.826A>T (p.Asn276Tyr)
c.844A>T (p.Asn282Tyr)
c.*685A>T (n.*685A>T)
c.904A>T (p.Asn302Tyr)
1g.7663464A=CA1152023632CAMTA1c.917A= (p.Asn306=)
c.*768A= (n.*768A=)
c.827A= (p.Asn276=)
c.845A= (p.Asn282=)
c.*686A= (n.*686A=)
c.905A= (p.Asn302=)
1g.7663464A>CCA338121952CAMTA1c.917A>C (p.Asn306Thr)
c.*768A>C (n.*768A>C)
c.827A>C (p.Asn276Thr)
c.845A>C (p.Asn282Thr)
c.*686A>C (n.*686A>C)
c.905A>C (p.Asn302Thr)
1g.7663464A>GCA338121955CAMTA1c.917A>G (p.Asn306Ser)
c.*768A>G (n.*768A>G)
c.827A>G (p.Asn276Ser)
c.845A>G (p.Asn282Ser)
c.*686A>G (n.*686A>G)
c.905A>G (p.Asn302Ser)
dbSNP gnomAD v2 gnomAD v4
1g.7663464A>TCA338121966CAMTA1c.917A>T (p.Asn306Ile)
c.*768A>T (n.*768A>T)
c.827A>T (p.Asn276Ile)
c.845A>T (p.Asn282Ile)
c.*686A>T (n.*686A>T)
c.905A>T (p.Asn302Ile)
1g.7663465T>ACA338121967CAMTA1c.918T>A (p.Asn306Lys)
c.*769T>A (n.*769T>A)
c.828T>A (p.Asn276Lys)
c.846T>A (p.Asn282Lys)
c.*687T>A (n.*687T>A)
c.906T>A (p.Asn302Lys)
1g.7663465T>CCA416026386CAMTA1c.918T>C (p.Asn306=)
c.*769T>C (n.*769T>C)
c.828T>C (p.Asn276=)
c.846T>C (p.Asn282=)
c.*687T>C (n.*687T>C)
c.906T>C (p.Asn302=)
1g.7663465T>GCA338121968CAMTA1c.918T>G (p.Asn306Lys)
c.*769T>G (n.*769T>G)
c.828T>G (p.Asn276Lys)
c.846T>G (p.Asn282Lys)
c.*687T>G (n.*687T>G)
c.906T>G (p.Asn302Lys)
1g.7663466G>ACA338121974CAMTA1c.919G>A (p.Asp307Asn)
c.*770G>A (n.*770G>A)
c.829G>A (p.Asp277Asn)
c.847G>A (p.Asp283Asn)
c.*688G>A (n.*688G>A)
c.907G>A (p.Asp303Asn)
gnomAD v4
1g.7663466G>CCA338121971CAMTA1c.919G>C (p.Asp307His)
c.*770G>C (n.*770G>C)
c.829G>C (p.Asp277His)
c.847G>C (p.Asp283His)
c.*688G>C (n.*688G>C)
c.907G>C (p.Asp303His)
1g.7663466G=CA1152023633CAMTA1c.919G= (p.Asp307=)
c.*770G= (n.*770G=)
c.829G= (p.Asp277=)
c.847G= (p.Asp283=)
c.*688G= (n.*688G=)
c.907G= (p.Asp303=)
1g.7663466G>TCA566327CAMTA1c.919G>T (p.Asp307Tyr)
c.*770G>T (n.*770G>T)
c.829G>T (p.Asp277Tyr)
c.847G>T (p.Asp283Tyr)
c.*688G>T (n.*688G>T)
c.907G>T (p.Asp303Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663467A>CCA338121987CAMTA1c.920A>C (p.Asp307Ala)
c.*771A>C (n.*771A>C)
c.830A>C (p.Asp277Ala)
c.848A>C (p.Asp283Ala)
c.*689A>C (n.*689A>C)
c.908A>C (p.Asp303Ala)
1g.7663467A>GCA338121988CAMTA1c.920A>G (p.Asp307Gly)
c.*771A>G (n.*771A>G)
c.830A>G (p.Asp277Gly)
c.848A>G (p.Asp283Gly)
c.*689A>G (n.*689A>G)
c.908A>G (p.Asp303Gly)
gnomAD v4
1g.7663467A>TCA338121995CAMTA1c.920A>T (p.Asp307Val)
c.*771A>T (n.*771A>T)
c.830A>T (p.Asp277Val)
c.848A>T (p.Asp283Val)
c.*689A>T (n.*689A>T)
c.908A>T (p.Asp303Val)
1g.7663468C>ACA338122001CAMTA1c.921C>A (p.Asp307Glu)
c.*772C>A (n.*772C>A)
c.831C>A (p.Asp277Glu)
c.849C>A (p.Asp283Glu)
c.*690C>A (n.*690C>A)
c.909C>A (p.Asp303Glu)
gnomAD v4
1g.7663468C=CA1152023634CAMTA1c.921C= (p.Asp307=)
c.*772C= (n.*772C=)
c.831C= (p.Asp277=)
c.849C= (p.Asp283=)
c.*690C= (n.*690C=)
c.909C= (p.Asp303=)
1g.7663468C>GCA338122005CAMTA1c.921C>G (p.Asp307Glu)
c.*772C>G (n.*772C>G)
c.831C>G (p.Asp277Glu)
c.849C>G (p.Asp283Glu)
c.*690C>G (n.*690C>G)
c.909C>G (p.Asp303Glu)
1g.7663468C>TCA416026387CAMTA1c.921C>T (p.Asp307=)
c.*772C>T (n.*772C>T)
c.831C>T (p.Asp277=)
c.849C>T (p.Asp283=)
c.*690C>T (n.*690C>T)
c.909C>T (p.Asp303=)
dbSNP gnomAD v2 gnomAD v4
1g.7663469G>ACA566328CAMTA1c.922G>A (p.Val308Met)
c.*773G>A (n.*773G>A)
c.832G>A (p.Val278Met)
c.850G>A (p.Val284Met)
c.*691G>A (n.*691G>A)
c.910G>A (p.Val304Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663469G>CCA338122018CAMTA1c.922G>C (p.Val308Leu)
c.*773G>C (n.*773G>C)
c.832G>C (p.Val278Leu)
c.850G>C (p.Val284Leu)
c.*691G>C (n.*691G>C)
c.910G>C (p.Val304Leu)
1g.7663469G=CA1152023635CAMTA1c.922G= (p.Val308=)
c.*773G= (n.*773G=)
c.832G= (p.Val278=)
c.850G= (p.Val284=)
c.*691G= (n.*691G=)
c.910G= (p.Val304=)
1g.7663469G>TCA338122022CAMTA1c.922G>T (p.Val308Leu)
c.*773G>T (n.*773G>T)
c.832G>T (p.Val278Leu)
c.850G>T (p.Val284Leu)
c.*691G>T (n.*691G>T)
c.910G>T (p.Val304Leu)
1g.7663470T>ACA338122025CAMTA1c.923T>A (p.Val308Glu)
c.*774T>A (n.*774T>A)
c.833T>A (p.Val278Glu)
c.851T>A (p.Val284Glu)
c.*692T>A (n.*692T>A)
c.911T>A (p.Val304Glu)
1g.7663470T>CCA338122031CAMTA1c.923T>C (p.Val308Ala)
c.*774T>C (n.*774T>C)
c.833T>C (p.Val278Ala)
c.851T>C (p.Val284Ala)
c.*692T>C (n.*692T>C)
c.911T>C (p.Val304Ala)
1g.7663470T>GCA338122033CAMTA1c.923T>G (p.Val308Gly)
c.*774T>G (n.*774T>G)
c.833T>G (p.Val278Gly)
c.851T>G (p.Val284Gly)
c.*692T>G (n.*692T>G)
c.911T>G (p.Val304Gly)
1g.7663471G>ACA416026389CAMTA1c.924G>A (p.Val308=)
c.*775G>A (n.*775G>A)
c.834G>A (p.Val278=)
c.852G>A (p.Val284=)
c.*693G>A (n.*693G>A)
c.912G>A (p.Val304=)
gnomAD v4
1g.7663471G>CCA416026390CAMTA1c.924G>C (p.Val308=)
c.*775G>C (n.*775G>C)
c.834G>C (p.Val278=)
c.852G>C (p.Val284=)
c.*693G>C (n.*693G>C)
c.912G>C (p.Val304=)
1g.7663471G>TCA416026388CAMTA1c.924G>T (p.Val308=)
c.*775G>T (n.*775G>T)
c.834G>T (p.Val278=)
c.852G>T (p.Val284=)
c.*693G>T (n.*693G>T)
c.912G>T (p.Val304=)
1g.7663472T>ACA338122036CAMTA1c.925T>A (p.Ser309Thr)
c.*776T>A (n.*776T>A)
c.835T>A (p.Ser279Thr)
c.853T>A (p.Ser285Thr)
c.*694T>A (n.*694T>A)
c.913T>A (p.Ser305Thr)
1g.7663472T>CCA338122037CAMTA1c.925T>C (p.Ser309Pro)
c.*776T>C (n.*776T>C)
c.835T>C (p.Ser279Pro)
c.853T>C (p.Ser285Pro)
c.*694T>C (n.*694T>C)
c.913T>C (p.Ser305Pro)
1g.7663472T>GCA338122040CAMTA1c.925T>G (p.Ser309Ala)
c.*776T>G (n.*776T>G)
c.835T>G (p.Ser279Ala)
c.853T>G (p.Ser285Ala)
c.*694T>G (n.*694T>G)
c.913T>G (p.Ser305Ala)
1g.7663473C>ACA338122044CAMTA1c.926C>A (p.Ser309Ter)
c.*777C>A (n.*777C>A)
c.836C>A (p.Ser279Ter)
c.854C>A (p.Ser285Ter)
c.*695C>A (n.*695C>A)
c.914C>A (p.Ser305Ter)
ClinVar gnomAD v4
1g.7663473C=CA1152023636CAMTA1c.926C= (p.Ser309=)
c.*777C= (n.*777C=)
c.836C= (p.Ser279=)
c.854C= (p.Ser285=)
c.*695C= (n.*695C=)
c.914C= (p.Ser305=)
1g.7663473C>GCA338122053CAMTA1c.926C>G (p.Ser309Trp)
c.*777C>G (n.*777C>G)
c.836C>G (p.Ser279Trp)
c.854C>G (p.Ser285Trp)
c.*695C>G (n.*695C>G)
c.914C>G (p.Ser305Trp)
1g.7663473C>TCA338122042CAMTA1c.926C>T (p.Ser309Leu)
c.*777C>T (n.*777C>T)
c.836C>T (p.Ser279Leu)
c.854C>T (p.Ser285Leu)
c.*695C>T (n.*695C>T)
c.914C>T (p.Ser305Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663474G>ACA566329CAMTA1c.927G>A (p.Ser309=)
c.*778G>A (n.*778G>A)
c.837G>A (p.Ser279=)
c.855G>A (p.Ser285=)
c.*696G>A (n.*696G>A)
c.915G>A (p.Ser305=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663474G>CCA416026391CAMTA1c.927G>C (p.Ser309=)
c.*778G>C (n.*778G>C)
c.837G>C (p.Ser279=)
c.855G>C (p.Ser285=)
c.*696G>C (n.*696G>C)
c.915G>C (p.Ser305=)
dbSNP
1g.7663474G=CA1139990299CAMTA1c.927G= (p.Ser309=)
c.*778G= (n.*778G=)
c.837G= (p.Ser279=)
c.855G= (p.Ser285=)
c.*696G= (n.*696G=)
c.915G= (p.Ser305=)
1g.7663474G>TCA416026392CAMTA1c.927G>T (p.Ser309=)
c.*778G>T (n.*778G>T)
c.837G>T (p.Ser279=)
c.855G>T (p.Ser285=)
c.*696G>T (n.*696G>T)
c.915G>T (p.Ser305=)
gnomAD v4
1g.7663475G>ACA338122067CAMTA1c.928G>A (p.Glu310Lys)
c.*779G>A (n.*779G>A)
c.838G>A (p.Glu280Lys)
c.856G>A (p.Glu286Lys)
c.*697G>A (n.*697G>A)
c.916G>A (p.Glu306Lys)
1g.7663475G>CCA338122069CAMTA1c.928G>C (p.Glu310Gln)
c.*779G>C (n.*779G>C)
c.838G>C (p.Glu280Gln)
c.856G>C (p.Glu286Gln)
c.*697G>C (n.*697G>C)
c.916G>C (p.Glu306Gln)
COSMIC
1g.7663475G>TCA338122077CAMTA1c.928G>T (p.Glu310Ter)
c.*779G>T (n.*779G>T)
c.838G>T (p.Glu280Ter)
c.856G>T (p.Glu286Ter)
c.*697G>T (n.*697G>T)
c.916G>T (p.Glu306Ter)
1g.7663476A>CCA338122080CAMTA1c.929A>C (p.Glu310Ala)
c.*780A>C (n.*780A>C)
c.839A>C (p.Glu280Ala)
c.857A>C (p.Glu286Ala)
c.*698A>C (n.*698A>C)
c.917A>C (p.Glu306Ala)
1g.7663476A>GCA338122081CAMTA1c.929A>G (p.Glu310Gly)
c.*780A>G (n.*780A>G)
c.839A>G (p.Glu280Gly)
c.857A>G (p.Glu286Gly)
c.*698A>G (n.*698A>G)
c.917A>G (p.Glu306Gly)
gnomAD v4
1g.7663476A>TCA338122082CAMTA1c.929A>T (p.Glu310Val)
c.*780A>T (n.*780A>T)
c.839A>T (p.Glu280Val)
c.857A>T (p.Glu286Val)
c.*698A>T (n.*698A>T)
c.917A>T (p.Glu306Val)
1g.7663477G>ACA416026393CAMTA1c.930G>A (p.Glu310=)
c.*781G>A (n.*781G>A)
c.840G>A (p.Glu280=)
c.858G>A (p.Glu286=)
c.*699G>A (n.*699G>A)
c.918G>A (p.Glu306=)
gnomAD v4
1g.7663477G>CCA338122083CAMTA1c.930G>C (p.Glu310Asp)
c.*781G>C (n.*781G>C)
c.840G>C (p.Glu280Asp)
c.858G>C (p.Glu286Asp)
c.*699G>C (n.*699G>C)
c.918G>C (p.Glu306Asp)
1g.7663477G>TCA338122084CAMTA1c.930G>T (p.Glu310Asp)
c.*781G>T (n.*781G>T)
c.840G>T (p.Glu280Asp)
c.858G>T (p.Glu286Asp)
c.*699G>T (n.*699G>T)
c.918G>T (p.Glu306Asp)
gnomAD v4 COSMIC
1g.7663478G>ACA566330CAMTA1c.931G>A (p.Gly311Ser)
c.*782G>A (n.*782G>A)
c.841G>A (p.Gly281Ser)
c.859G>A (p.Gly287Ser)
c.*700G>A (n.*700G>A)
c.919G>A (p.Gly307Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663478G>CCA338122087CAMTA1c.931G>C (p.Gly311Arg)
c.*782G>C (n.*782G>C)
c.841G>C (p.Gly281Arg)
c.859G>C (p.Gly287Arg)
c.*700G>C (n.*700G>C)
c.919G>C (p.Gly307Arg)
1g.7663478G=CA1152023637CAMTA1c.931G= (p.Gly311=)
c.*782G= (n.*782G=)
c.841G= (p.Gly281=)
c.859G= (p.Gly287=)
c.*700G= (n.*700G=)
c.919G= (p.Gly307=)
1g.7663478G>TCA338122088CAMTA1c.931G>T (p.Gly311Cys)
c.*782G>T (n.*782G>T)
c.841G>T (p.Gly281Cys)
c.859G>T (p.Gly287Cys)
c.*700G>T (n.*700G>T)
c.919G>T (p.Gly307Cys)
1g.7663479G>ACA338122096CAMTA1c.932G>A (p.Gly311Asp)
c.*783G>A (n.*783G>A)
c.842G>A (p.Gly281Asp)
c.860G>A (p.Gly287Asp)
c.*701G>A (n.*701G>A)
c.920G>A (p.Gly307Asp)
gnomAD v4
1g.7663479G>CCA338122095CAMTA1c.932G>C (p.Gly311Ala)
c.*783G>C (n.*783G>C)
c.842G>C (p.Gly281Ala)
c.860G>C (p.Gly287Ala)
c.*701G>C (n.*701G>C)
c.920G>C (p.Gly307Ala)
1g.7663479G>TCA338122093CAMTA1c.932G>T (p.Gly311Val)
c.*783G>T (n.*783G>T)
c.842G>T (p.Gly281Val)
c.860G>T (p.Gly287Val)
c.*701G>T (n.*701G>T)
c.920G>T (p.Gly307Val)
1g.7663480C>ACA416026394CAMTA1c.933C>A (p.Gly311=)
c.*784C>A (n.*784C>A)
c.843C>A (p.Gly281=)
c.861C>A (p.Gly287=)
c.*702C>A (n.*702C>A)
c.921C>A (p.Gly307=)
gnomAD v4
1g.7663480C=CA1143650342CAMTA1c.933C= (p.Gly311=)
c.*784C= (n.*784C=)
c.843C= (p.Gly281=)
c.861C= (p.Gly287=)
c.*702C= (n.*702C=)
c.921C= (p.Gly307=)
1g.7663480C>GCA416026395CAMTA1c.933C>G (p.Gly311=)
c.*784C>G (n.*784C>G)
c.843C>G (p.Gly281=)
c.861C>G (p.Gly287=)
c.*702C>G (n.*702C>G)
c.921C>G (p.Gly307=)
dbSNP gnomAD v2 gnomAD v4
1g.7663480C>TCA17243920CAMTA1c.933C>T (p.Gly311=)
c.*784C>T (n.*784C>T)
c.843C>T (p.Gly281=)
c.861C>T (p.Gly287=)
c.*702C>T (n.*702C>T)
c.921C>T (p.Gly307=)
dbSNP
1g.7663481_7663486dupCA2643031705CAMTA1c.934_939dup (p.His313_Glu314insLysHis)
c.*785_*790dup (n.*785_*790dup)
c.844_849dup (p.His283_Glu284insLysHis)
c.862_867dup (p.His289_Glu290insLysHis)
c.*703_*708dup (n.*703_*708dup)
c.922_927dup (p.His309_Glu310insLysHis)
gnomAD v4
1g.7663481A>CCA338122105CAMTA1c.934A>C (p.Lys312Gln)
c.*785A>C (n.*785A>C)
c.844A>C (p.Lys282Gln)
c.862A>C (p.Lys288Gln)
c.*703A>C (n.*703A>C)
c.922A>C (p.Lys308Gln)
1g.7663481A>GCA338122119CAMTA1c.934A>G (p.Lys312Glu)
c.*785A>G (n.*785A>G)
c.844A>G (p.Lys282Glu)
c.862A>G (p.Lys288Glu)
c.*703A>G (n.*703A>G)
c.922A>G (p.Lys308Glu)
gnomAD v4
1g.7663481A>TCA338122122CAMTA1c.934A>T (p.Lys312Ter)
c.*785A>T (n.*785A>T)
c.844A>T (p.Lys282Ter)
c.862A>T (p.Lys288Ter)
c.*703A>T (n.*703A>T)
c.922A>T (p.Lys308Ter)
1g.7663482A=CA1152023638CAMTA1c.935A= (p.Lys312=)
c.*786A= (n.*786A=)
c.845A= (p.Lys282=)
c.863A= (p.Lys288=)
c.*704A= (n.*704A=)
c.923A= (p.Lys308=)
1g.7663482A>CCA566332CAMTA1c.935A>C (p.Lys312Thr)
c.*786A>C (n.*786A>C)
c.845A>C (p.Lys282Thr)
c.863A>C (p.Lys288Thr)
c.*704A>C (n.*704A>C)
c.923A>C (p.Lys308Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663482A>GCA566331CAMTA1c.935A>G (p.Lys312Arg)
c.*786A>G (n.*786A>G)
c.845A>G (p.Lys282Arg)
c.863A>G (p.Lys288Arg)
c.*704A>G (n.*704A>G)
c.923A>G (p.Lys308Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663482A>TCA338122143CAMTA1c.935A>T (p.Lys312Met)
c.*786A>T (n.*786A>T)
c.845A>T (p.Lys282Met)
c.863A>T (p.Lys288Met)
c.*704A>T (n.*704A>T)
c.923A>T (p.Lys308Met)
1g.7663483G>ACA416026396CAMTA1c.936G>A (p.Lys312=)
c.*787G>A (n.*787G>A)
c.846G>A (p.Lys282=)
c.864G>A (p.Lys288=)
c.*705G>A (n.*705G>A)
c.924G>A (p.Lys308=)
dbSNP gnomAD v2 gnomAD v4
1g.7663483G>CCA338122148CAMTA1c.936G>C (p.Lys312Asn)
c.*787G>C (n.*787G>C)
c.846G>C (p.Lys282Asn)
c.864G>C (p.Lys288Asn)
c.*705G>C (n.*705G>C)
c.924G>C (p.Lys308Asn)
1g.7663483G=CA1152023639CAMTA1c.936G= (p.Lys312=)
c.*787G= (n.*787G=)
c.846G= (p.Lys282=)
c.864G= (p.Lys288=)
c.*705G= (n.*705G=)
c.924G= (p.Lys308=)
1g.7663483G>TCA338122153CAMTA1c.936G>T (p.Lys312Asn)
c.*787G>T (n.*787G>T)
c.846G>T (p.Lys282Asn)
c.864G>T (p.Lys288Asn)
c.*705G>T (n.*705G>T)
c.924G>T (p.Lys308Asn)
gnomAD v4
1g.7663484C>ACA338122156CAMTA1c.937C>A (p.His313Asn)
c.*788C>A (n.*788C>A)
c.847C>A (p.His283Asn)
c.865C>A (p.His289Asn)
c.*706C>A (n.*706C>A)
c.925C>A (p.His309Asn)
gnomAD v4
1g.7663484C>GCA338122159CAMTA1c.937C>G (p.His313Asp)
c.*788C>G (n.*788C>G)
c.847C>G (p.His283Asp)
c.865C>G (p.His289Asp)
c.*706C>G (n.*706C>G)
c.925C>G (p.His309Asp)
1g.7663484C>TCA338122170CAMTA1c.937C>T (p.His313Tyr)
c.*788C>T (n.*788C>T)
c.847C>T (p.His283Tyr)
c.865C>T (p.His289Tyr)
c.*706C>T (n.*706C>T)
c.925C>T (p.His309Tyr)
1g.7663485A=CA1152023640CAMTA1c.938A= (p.His313=)
c.*789A= (n.*789A=)
c.848A= (p.His283=)
c.866A= (p.His289=)
c.*707A= (n.*707A=)
c.926A= (p.His309=)
1g.7663485A>CCA338122174CAMTA1c.938A>C (p.His313Pro)
c.*789A>C (n.*789A>C)
c.848A>C (p.His283Pro)
c.866A>C (p.His289Pro)
c.*707A>C (n.*707A>C)
c.926A>C (p.His309Pro)
1g.7663485A>GCA566333CAMTA1c.938A>G (p.His313Arg)
c.*789A>G (n.*789A>G)
c.848A>G (p.His283Arg)
c.866A>G (p.His289Arg)
c.*707A>G (n.*707A>G)
c.926A>G (p.His309Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.7663485A>TCA338122180CAMTA1c.938A>T (p.His313Leu)
c.*789A>T (n.*789A>T)
c.848A>T (p.His283Leu)
c.866A>T (p.His289Leu)
c.*707A>T (n.*707A>T)
c.926A>T (p.His309Leu)
1g.7663486C>ACA338122185CAMTA1c.939C>A (p.His313Gln)
c.*790C>A (n.*790C>A)
c.849C>A (p.His283Gln)
c.867C>A (p.His289Gln)
c.*708C>A (n.*708C>A)
c.927C>A (p.His309Gln)
gnomAD v4
1g.7663486C=CA1143922104CAMTA1c.939C= (p.His313=)
c.*790C= (n.*790C=)
c.849C= (p.His283=)
c.867C= (p.His289=)
c.*708C= (n.*708C=)
c.927C= (p.His309=)
1g.7663486C>GCA338122191CAMTA1c.939C>G (p.His313Gln)
c.*790C>G (n.*790C>G)
c.849C>G (p.His283Gln)
c.867C>G (p.His289Gln)
c.*708C>G (n.*708C>G)
c.927C>G (p.His309Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7663486C>TCA566334CAMTA1c.939C>T (p.His313=)
c.*790C>T (n.*790C>T)
c.849C>T (p.His283=)
c.867C>T (p.His289=)
c.*708C>T (n.*708C>T)
c.927C>T (p.His309=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663487G>ACA566335CAMTA1c.940G>A (p.Glu314Lys)
c.*791G>A (n.*791G>A)
c.850G>A (p.Glu284Lys)
c.868G>A (p.Glu290Lys)
c.*709G>A (n.*709G>A)
c.928G>A (p.Glu310Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663487G>CCA338122194CAMTA1c.940G>C (p.Glu314Gln)
c.*791G>C (n.*791G>C)
c.850G>C (p.Glu284Gln)
c.868G>C (p.Glu290Gln)
c.*709G>C (n.*709G>C)
c.928G>C (p.Glu310Gln)
1g.7663487G=CA1152023641CAMTA1c.940G= (p.Glu314=)
c.*791G= (n.*791G=)
c.850G= (p.Glu284=)
c.868G= (p.Glu290=)
c.*709G= (n.*709G=)
c.928G= (p.Glu310=)
1g.7663487G>TCA338122195CAMTA1c.940G>T (p.Glu314Ter)
c.*791G>T (n.*791G>T)
c.850G>T (p.Glu284Ter)
c.868G>T (p.Glu290Ter)
c.*709G>T (n.*709G>T)
c.928G>T (p.Glu310Ter)
COSMIC
1g.7663488A>CCA338122198CAMTA1c.941A>C (p.Glu314Ala)
c.*792A>C (n.*792A>C)
c.851A>C (p.Glu284Ala)
c.869A>C (p.Glu290Ala)
c.*710A>C (n.*710A>C)
c.929A>C (p.Glu310Ala)
1g.7663488A>GCA338122199CAMTA1c.941A>G (p.Glu314Gly)
c.*792A>G (n.*792A>G)
c.851A>G (p.Glu284Gly)
c.869A>G (p.Glu290Gly)
c.*710A>G (n.*710A>G)
c.929A>G (p.Glu310Gly)
1g.7663488A>TCA338122200CAMTA1c.941A>T (p.Glu314Val)
c.*792A>T (n.*792A>T)
c.851A>T (p.Glu284Val)
c.869A>T (p.Glu290Val)
c.*710A>T (n.*710A>T)
c.929A>T (p.Glu310Val)
1g.7663489G>ACA416026397CAMTA1c.942G>A (p.Glu314=)
c.*793G>A (n.*793G>A)
c.852G>A (p.Glu284=)
c.870G>A (p.Glu290=)
c.*711G>A (n.*711G>A)
c.930G>A (p.Glu310=)
1g.7663489G>CCA338122201CAMTA1c.942G>C (p.Glu314Asp)
c.*793G>C (n.*793G>C)
c.852G>C (p.Glu284Asp)
c.870G>C (p.Glu290Asp)
c.*711G>C (n.*711G>C)
c.930G>C (p.Glu310Asp)
1g.7663489G>TCA338122204CAMTA1c.942G>T (p.Glu314Asp)
c.*793G>T (n.*793G>T)
c.852G>T (p.Glu284Asp)
c.870G>T (p.Glu290Asp)
c.*711G>T (n.*711G>T)
c.930G>T (p.Glu310Asp)
1g.7663490C>ACA338122213CAMTA1c.943C>A (p.His315Asn)
c.*794C>A (n.*794C>A)
c.853C>A (p.His285Asn)
c.871C>A (p.His291Asn)
c.*712C>A (n.*712C>A)
c.931C>A (p.His311Asn)
gnomAD v4
1g.7663490C>GCA338122217CAMTA1c.943C>G (p.His315Asp)
c.*794C>G (n.*794C>G)
c.853C>G (p.His285Asp)
c.871C>G (p.His291Asp)
c.*712C>G (n.*712C>G)
c.931C>G (p.His311Asp)
1g.7663490C>TCA338122216CAMTA1c.943C>T (p.His315Tyr)
c.*794C>T (n.*794C>T)
c.853C>T (p.His285Tyr)
c.871C>T (p.His291Tyr)
c.*712C>T (n.*712C>T)
c.931C>T (p.His311Tyr)

Number of alleles fetched