Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.73415045G>ACA127968ALBc.1069G>A (p.Glu357Lys)
c.724G>A (p.Glu242Lys)
c.493G>A (p.Glu165Lys)
c.*348G>A (p.=)
n.389G>A
c.619G>A (p.Glu207Lys)
n.72G>A
n.755G>A
n.602G>A
c.491-61G>A (p.=)
c.487-57G>A (p.=)
ClinVar dbSNP
4g.73415045G>CCA357241062ALBc.1069G>C (p.Glu357Gln)
c.724G>C (p.Glu242Gln)
c.493G>C (p.Glu165Gln)
c.*348G>C (p.=)
n.389G>C
c.619G>C (p.Glu207Gln)
n.72G>C
n.755G>C
n.602G>C
c.491-61G>C (p.=)
c.487-57G>C (p.=)
COSMIC
4g.73415045G>TCA357241063ALBc.1069G>T (p.Glu357Ter)
c.724G>T (p.Glu242Ter)
c.493G>T (p.Glu165Ter)
c.*348G>T (p.=)
n.389G>T
c.619G>T (p.Glu207Ter)
n.72G>T
n.755G>T
n.602G>T
c.491-61G>T (p.=)
c.487-57G>T (p.=)
4g.73415046A>CCA357241066ALBc.1070A>C (p.Glu357Ala)
c.725A>C (p.Glu242Ala)
c.494A>C (p.Glu165Ala)
c.*349A>C (p.=)
n.390A>C
c.620A>C (p.Glu207Ala)
n.73A>C
n.756A>C
n.603A>C
c.491-60A>C (p.=)
c.487-56A>C (p.=)
4g.73415046A>GCA357241067ALBc.1070A>G (p.Glu357Gly)
c.725A>G (p.Glu242Gly)
c.494A>G (p.Glu165Gly)
c.*349A>G (p.=)
n.390A>G
c.620A>G (p.Glu207Gly)
n.73A>G
n.756A>G
n.603A>G
c.491-60A>G (p.=)
c.487-56A>G (p.=)
4g.73415046A>TCA357241068ALBc.1070A>T (p.Glu357Val)
c.725A>T (p.Glu242Val)
c.494A>T (p.Glu165Val)
c.*349A>T (p.=)
n.390A>T
c.620A>T (p.Glu207Val)
n.73A>T
n.756A>T
n.603A>T
c.491-60A>T (p.=)
c.487-56A>T (p.=)
4g.73415047A>CCA357241070ALBc.1071A>C (p.Glu357Asp)
c.726A>C (p.Glu242Asp)
c.495A>C (p.Glu165Asp)
c.*350A>C (p.=)
n.391A>C
c.621A>C (p.Glu207Asp)
n.74A>C
n.757A>C
n.604A>C
c.491-59A>C (p.=)
c.487-55A>C (p.=)
4g.73415047A>GCA439800258ALBc.1071A>G (p.Glu357=)
c.726A>G (p.Glu242=)
c.495A>G (p.Glu165=)
c.*350A>G (p.=)
n.391A>G
c.621A>G (p.Glu207=)
n.74A>G
n.757A>G
n.604A>G
c.491-59A>G (p.=)
c.487-55A>G (p.=)
4g.73415047A>TCA357241071ALBc.1071A>T (p.Glu357Asp)
c.726A>T (p.Glu242Asp)
c.495A>T (p.Glu165Asp)
c.*350A>T (p.=)
n.391A>T
c.621A>T (p.Glu207Asp)
n.74A>T
n.757A>T
n.604A>T
c.491-59A>T (p.=)
c.487-55A>T (p.=)
4g.73415048T>ACA357241073ALBc.1072T>A (p.Tyr358Asn)
c.727T>A (p.Tyr243Asn)
c.496T>A (p.Tyr166Asn)
c.*351T>A (p.=)
n.392T>A
c.622T>A (p.Tyr208Asn)
n.75T>A
n.758T>A
n.605T>A
c.491-58T>A (p.=)
c.487-54T>A (p.=)
4g.73415048T>CCA357241075ALBc.1072T>C (p.Tyr358His)
c.727T>C (p.Tyr243His)
c.496T>C (p.Tyr166His)
c.*351T>C (p.=)
n.392T>C
c.622T>C (p.Tyr208His)
n.75T>C
n.758T>C
n.605T>C
c.491-58T>C (p.=)
c.487-54T>C (p.=)
4g.73415048T>GCA357241076ALBc.1072T>G (p.Tyr358Asp)
c.727T>G (p.Tyr243Asp)
c.496T>G (p.Tyr166Asp)
c.*351T>G (p.=)
n.392T>G
c.622T>G (p.Tyr208Asp)
n.75T>G
n.758T>G
n.605T>G
c.491-58T>G (p.=)
c.487-54T>G (p.=)
4g.73415049A>CCA357241080ALBc.1073A>C (p.Tyr358Ser)
c.728A>C (p.Tyr243Ser)
c.497A>C (p.Tyr166Ser)
c.*352A>C (p.=)
n.393A>C
c.623A>C (p.Tyr208Ser)
n.76A>C
n.759A>C
n.606A>C
c.491-57A>C (p.=)
c.487-53A>C (p.=)
4g.73415049A>GCA2959543ALBc.1073A>G (p.Tyr358Cys)
c.728A>G (p.Tyr243Cys)
c.497A>G (p.Tyr166Cys)
c.*352A>G (p.=)
n.393A>G
c.623A>G (p.Tyr208Cys)
n.76A>G
n.759A>G
n.606A>G
c.491-57A>G (p.=)
c.487-53A>G (p.=)
ClinVar dbSNP ExAC gnomAD
4g.73415049A>TCA357241078ALBc.1073A>T (p.Tyr358Phe)
c.728A>T (p.Tyr243Phe)
c.497A>T (p.Tyr166Phe)
c.*352A>T (p.=)
n.393A>T
c.623A>T (p.Tyr208Phe)
n.76A>T
n.759A>T
n.606A>T
c.491-57A>T (p.=)
c.487-53A>T (p.=)
4g.73415050T>ACA357241082ALBc.1074T>A (p.Tyr358Ter)
c.729T>A (p.Tyr243Ter)
c.498T>A (p.Tyr166Ter)
c.*353T>A (p.=)
n.394T>A
c.624T>A (p.Tyr208Ter)
n.77T>A
n.760T>A
n.607T>A
c.491-56T>A (p.=)
c.487-52T>A (p.=)
4g.73415050T>CCA99707143ALBc.1074T>C (p.Tyr358=)
c.729T>C (p.Tyr243=)
c.498T>C (p.Tyr166=)
c.*353T>C (p.=)
n.394T>C
c.624T>C (p.Tyr208=)
n.77T>C
n.760T>C
n.607T>C
c.491-56T>C (p.=)
c.487-52T>C (p.=)
dbSNP COSMIC
4g.73415050T>GCA357241084ALBc.1074T>G (p.Tyr358Ter)
c.729T>G (p.Tyr243Ter)
c.498T>G (p.Tyr166Ter)
c.*353T>G (p.=)
n.394T>G
c.624T>G (p.Tyr208Ter)
n.77T>G
n.760T>G
n.607T>G
c.491-56T>G (p.=)
c.487-52T>G (p.=)
4g.73415051G>ACA357241085ALBc.1075G>A (p.Ala359Thr)
c.730G>A (p.Ala244Thr)
c.499G>A (p.Ala167Thr)
c.*354G>A (p.=)
n.395G>A
c.625G>A (p.Ala209Thr)
n.78G>A
n.761G>A
n.608G>A
c.491-55G>A (p.=)
c.487-51G>A (p.=)
4g.73415051G>CCA357241086ALBc.1075G>C (p.Ala359Pro)
c.730G>C (p.Ala244Pro)
c.499G>C (p.Ala167Pro)
c.*354G>C (p.=)
n.395G>C
c.625G>C (p.Ala209Pro)
n.78G>C
n.761G>C
n.608G>C
c.491-55G>C (p.=)
c.487-51G>C (p.=)
4g.73415051G>TCA357241088ALBc.1075G>T (p.Ala359Ser)
c.730G>T (p.Ala244Ser)
c.499G>T (p.Ala167Ser)
c.*354G>T (p.=)
n.395G>T
c.625G>T (p.Ala209Ser)
n.78G>T
n.761G>T
n.608G>T
c.491-55G>T (p.=)
c.487-51G>T (p.=)
4g.73415052C>ACA357241090ALBc.1076C>A (p.Ala359Glu)
c.731C>A (p.Ala244Glu)
c.500C>A (p.Ala167Glu)
c.*355C>A (p.=)
n.396C>A
c.626C>A (p.Ala209Glu)
n.79C>A
n.762C>A
n.609C>A
c.491-54C>A (p.=)
c.487-50C>A (p.=)
4g.73415052C>GCA357241091ALBc.1076C>G (p.Ala359Gly)
c.731C>G (p.Ala244Gly)
c.500C>G (p.Ala167Gly)
c.*355C>G (p.=)
n.396C>G
c.626C>G (p.Ala209Gly)
n.79C>G
n.762C>G
n.609C>G
c.491-54C>G (p.=)
c.487-50C>G (p.=)
4g.73415052C>TCA357241093ALBc.1076C>T (p.Ala359Val)
c.731C>T (p.Ala244Val)
c.500C>T (p.Ala167Val)
c.*355C>T (p.=)
n.396C>T
c.626C>T (p.Ala209Val)
n.79C>T
n.762C>T
n.609C>T
c.491-54C>T (p.=)
c.487-50C>T (p.=)
4g.73415053A>CCA439800261ALBc.1077A>C (p.Ala359=)
c.732A>C (p.Ala244=)
c.501A>C (p.Ala167=)
c.*356A>C (p.=)
n.397A>C
c.627A>C (p.Ala209=)
n.80A>C
n.763A>C
n.610A>C
c.491-53A>C (p.=)
c.487-49A>C (p.=)
4g.73415053A>GCA439800262ALBc.1077A>G (p.Ala359=)
c.732A>G (p.Ala244=)
c.501A>G (p.Ala167=)
c.*356A>G (p.=)
n.397A>G
c.627A>G (p.Ala209=)
n.80A>G
n.763A>G
n.610A>G
c.491-53A>G (p.=)
c.487-49A>G (p.=)
4g.73415053A>TCA439800263ALBc.1077A>T (p.Ala359=)
c.732A>T (p.Ala244=)
c.501A>T (p.Ala167=)
c.*356A>T (p.=)
n.397A>T
c.627A>T (p.Ala209=)
n.80A>T
n.763A>T
n.610A>T
c.491-53A>T (p.=)
c.487-49A>T (p.=)
4g.73415054A>CCA439800264ALBc.1078A>C (p.Arg360=)
c.733A>C (p.Arg245=)
c.502A>C (p.Arg168=)
c.*357A>C (p.=)
n.398A>C
c.628A>C (p.Arg210=)
n.81A>C
n.764A>C
n.611A>C
c.491-52A>C (p.=)
c.487-48A>C (p.=)
4g.73415054A>GCA357241095ALBc.1078A>G (p.Arg360Gly)
c.733A>G (p.Arg245Gly)
c.502A>G (p.Arg168Gly)
c.*357A>G (p.=)
n.398A>G
c.628A>G (p.Arg210Gly)
n.81A>G
n.764A>G
n.611A>G
c.491-52A>G (p.=)
c.487-48A>G (p.=)
4g.73415054A>TCA357241097ALBc.1078A>T (p.Arg360Ter)
c.733A>T (p.Arg245Ter)
c.502A>T (p.Arg168Ter)
c.*357A>T (p.=)
n.398A>T
c.628A>T (p.Arg210Ter)
n.81A>T
n.764A>T
n.611A>T
c.491-52A>T (p.=)
c.487-48A>T (p.=)
4g.73415055G>ACA2959544ALBc.1079G>A (p.Arg360Lys)
c.734G>A (p.Arg245Lys)
c.503G>A (p.Arg168Lys)
c.*358G>A (p.=)
n.399G>A
c.629G>A (p.Arg210Lys)
n.82G>A
n.765G>A
n.612G>A
c.491-51G>A (p.=)
c.487-47G>A (p.=)
dbSNP ExAC gnomAD
4g.73415055G>CCA357241101ALBc.1079G>C (p.Arg360Thr)
c.734G>C (p.Arg245Thr)
c.503G>C (p.Arg168Thr)
c.*358G>C (p.=)
n.399G>C
c.629G>C (p.Arg210Thr)
n.82G>C
n.765G>C
n.612G>C
c.491-51G>C (p.=)
c.487-47G>C (p.=)
4g.73415055G>TCA357241099ALBc.1079G>T (p.Arg360Ile)
c.734G>T (p.Arg245Ile)
c.503G>T (p.Arg168Ile)
c.*358G>T (p.=)
n.399G>T
c.629G>T (p.Arg210Ile)
n.82G>T
n.765G>T
n.612G>T
c.491-51G>T (p.=)
c.487-47G>T (p.=)
4g.73415056A>CCA357241102ALBc.1080A>C (p.Arg360Ser)
c.735A>C (p.Arg245Ser)
c.504A>C (p.Arg168Ser)
c.*359A>C (p.=)
n.400A>C
c.630A>C (p.Arg210Ser)
n.83A>C
n.766A>C
n.613A>C
c.491-50A>C (p.=)
c.487-46A>C (p.=)
4g.73415056A>GCA2959545ALBc.1080A>G (p.Arg360=)
c.735A>G (p.Arg245=)
c.504A>G (p.Arg168=)
c.*359A>G (p.=)
n.400A>G
c.630A>G (p.Arg210=)
n.83A>G
n.766A>G
n.613A>G
c.491-50A>G (p.=)
c.487-46A>G (p.=)
dbSNP ExAC gnomAD
4g.73415056A>TCA357241104ALBc.1080A>T (p.Arg360Ser)
c.735A>T (p.Arg245Ser)
c.504A>T (p.Arg168Ser)
c.*359A>T (p.=)
n.400A>T
c.630A>T (p.Arg210Ser)
n.83A>T
n.766A>T
n.613A>T
c.491-50A>T (p.=)
c.487-46A>T (p.=)
4g.73415057A>CCA439800265ALBc.1081A>C (p.Arg361=)
c.736A>C (p.Arg246=)
c.505A>C (p.Arg169=)
c.*360A>C (p.=)
n.401A>C
c.631A>C (p.Arg211=)
n.84A>C
n.767A>C
n.614A>C
c.491-49A>C (p.=)
c.487-45A>C (p.=)
gnomAD
4g.73415057A>GCA357241107ALBc.1081A>G (p.Arg361Gly)
c.736A>G (p.Arg246Gly)
c.505A>G (p.Arg169Gly)
c.*360A>G (p.=)
n.401A>G
c.631A>G (p.Arg211Gly)
n.84A>G
n.767A>G
n.614A>G
c.491-49A>G (p.=)
c.487-45A>G (p.=)
4g.73415057A>TCA357241109ALBc.1081A>T (p.Arg361Trp)
c.736A>T (p.Arg246Trp)
c.505A>T (p.Arg169Trp)
c.*360A>T (p.=)
n.401A>T
c.631A>T (p.Arg211Trp)
n.84A>T
n.767A>T
n.614A>T
c.491-49A>T (p.=)
c.487-45A>T (p.=)
4g.73415058G>ACA357241110ALBc.1082G>A (p.Arg361Lys)
c.737G>A (p.Arg246Lys)
c.506G>A (p.Arg169Lys)
c.*361G>A (p.=)
n.402G>A
c.632G>A (p.Arg211Lys)
n.85G>A
n.768G>A
n.615G>A
c.491-48G>A (p.=)
c.487-44G>A (p.=)
4g.73415058G>CCA357241112ALBc.1082G>C (p.Arg361Thr)
c.737G>C (p.Arg246Thr)
c.506G>C (p.Arg169Thr)
c.*361G>C (p.=)
n.402G>C
c.632G>C (p.Arg211Thr)
n.85G>C
n.768G>C
n.615G>C
c.491-48G>C (p.=)
c.487-44G>C (p.=)
4g.73415058G>TCA357241114ALBc.1082G>T (p.Arg361Met)
c.737G>T (p.Arg246Met)
c.506G>T (p.Arg169Met)
c.*361G>T (p.=)
n.402G>T
c.632G>T (p.Arg211Met)
n.85G>T
n.768G>T
n.615G>T
c.491-48G>T (p.=)
c.487-44G>T (p.=)
4g.73415059G>ACA439800266ALBc.1083G>A (p.Arg361=)
c.738G>A (p.Arg246=)
c.507G>A (p.Arg169=)
c.*362G>A (p.=)
n.403G>A
c.633G>A (p.Arg211=)
n.86G>A
n.769G>A
n.616G>A
c.491-47G>A (p.=)
c.487-43G>A (p.=)
4g.73415059G>CCA2959546ALBc.1083G>C (p.Arg361Ser)
c.738G>C (p.Arg246Ser)
c.507G>C (p.Arg169Ser)
c.*362G>C (p.=)
n.403G>C
c.633G>C (p.Arg211Ser)
n.86G>C
n.769G>C
n.616G>C
c.491-47G>C (p.=)
c.487-43G>C (p.=)
dbSNP ExAC gnomAD
4g.73415059G>TCA357241115ALBc.1083G>T (p.Arg361Ser)
c.738G>T (p.Arg246Ser)
c.507G>T (p.Arg169Ser)
c.*362G>T (p.=)
n.403G>T
c.633G>T (p.Arg211Ser)
n.86G>T
n.769G>T
n.616G>T
c.491-47G>T (p.=)
c.487-43G>T (p.=)
4g.73415060C>ACA357241116ALBc.1084C>A (p.His362Asn)
c.739C>A (p.His247Asn)
c.508C>A (p.His170Asn)
c.*363C>A (p.=)
n.404C>A
c.634C>A (p.His212Asn)
n.87C>A
n.770C>A
n.617C>A
c.491-46C>A (p.=)
c.487-42C>A (p.=)
4g.73415060C>GCA357241117ALBc.1084C>G (p.His362Asp)
c.739C>G (p.His247Asp)
c.508C>G (p.His170Asp)
c.*363C>G (p.=)
n.404C>G
c.634C>G (p.His212Asp)
n.87C>G
n.770C>G
n.617C>G
c.491-46C>G (p.=)
c.487-42C>G (p.=)
4g.73415060C>TCA357241118ALBc.1084C>T (p.His362Tyr)
c.739C>T (p.His247Tyr)
c.508C>T (p.His170Tyr)
c.*363C>T (p.=)
n.404C>T
c.634C>T (p.His212Tyr)
n.87C>T
n.770C>T
n.617C>T
c.491-46C>T (p.=)
c.487-42C>T (p.=)
COSMIC
4g.73415061A>CCA357241119ALBc.1085A>C (p.His362Pro)
c.740A>C (p.His247Pro)
c.509A>C (p.His170Pro)
c.*364A>C (p.=)
n.405A>C
c.635A>C (p.His212Pro)
n.88A>C
n.771A>C
n.618A>C
c.491-45A>C (p.=)
c.487-41A>C (p.=)
4g.73415061A>GCA357241120ALBc.1085A>G (p.His362Arg)
c.740A>G (p.His247Arg)
c.509A>G (p.His170Arg)
c.*364A>G (p.=)
n.405A>G
c.635A>G (p.His212Arg)
n.88A>G
n.771A>G
n.618A>G
c.491-45A>G (p.=)
c.487-41A>G (p.=)
gnomAD

Number of alleles fetched