Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232790817A=CA1335433313GIGYF2c.832A= (p.Ile278=)
c.178A= (p.Ile60=)
c.313A= (p.Ile105=)
c.88A= (p.Ile30=)
c.325A= (p.Ile109=)
c.814A= (p.Ile272=)
c.898A= (p.Ile300=)
c.661A= (p.Ile221=)
c.107+71A= (n.107+71A=)
n.945A=
2g.232790817A>CCA351011104GIGYF2c.832A>C (p.Ile278Leu)
c.178A>C (p.Ile60Leu)
c.313A>C (p.Ile105Leu)
c.88A>C (p.Ile30Leu)
c.325A>C (p.Ile109Leu)
c.814A>C (p.Ile272Leu)
c.898A>C (p.Ile300Leu)
c.661A>C (p.Ile221Leu)
c.107+71A>C (n.107+71A>C)
n.945A>C
2g.232790817A>GCA251595GIGYF2c.832A>G (p.Ile278Val)
c.178A>G (p.Ile60Val)
c.313A>G (p.Ile105Val)
c.88A>G (p.Ile30Val)
c.325A>G (p.Ile109Val)
c.814A>G (p.Ile272Val)
c.898A>G (p.Ile300Val)
c.661A>G (p.Ile221Val)
c.107+71A>G (n.107+71A>G)
n.945A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790817A>TCA351011107GIGYF2c.832A>T (p.Ile278Leu)
c.178A>T (p.Ile60Leu)
c.313A>T (p.Ile105Leu)
c.88A>T (p.Ile30Leu)
c.325A>T (p.Ile109Leu)
c.814A>T (p.Ile272Leu)
c.898A>T (p.Ile300Leu)
c.661A>T (p.Ile221Leu)
c.107+71A>T (n.107+71A>T)
n.945A>T
2g.232790818T>ACA351011108GIGYF2c.833T>A (p.Ile278Lys)
c.179T>A (p.Ile60Lys)
c.314T>A (p.Ile105Lys)
c.89T>A (p.Ile30Lys)
c.326T>A (p.Ile109Lys)
c.815T>A (p.Ile272Lys)
c.899T>A (p.Ile300Lys)
c.662T>A (p.Ile221Lys)
c.107+72T>A (n.107+72T>A)
n.946T>A
2g.232790818T>CCA351011112GIGYF2c.833T>C (p.Ile278Thr)
c.179T>C (p.Ile60Thr)
c.314T>C (p.Ile105Thr)
c.89T>C (p.Ile30Thr)
c.326T>C (p.Ile109Thr)
c.815T>C (p.Ile272Thr)
c.899T>C (p.Ile300Thr)
c.662T>C (p.Ile221Thr)
c.107+72T>C (n.107+72T>C)
n.946T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790818T>GCA351011110GIGYF2c.833T>G (p.Ile278Arg)
c.179T>G (p.Ile60Arg)
c.314T>G (p.Ile105Arg)
c.89T>G (p.Ile30Arg)
c.326T>G (p.Ile109Arg)
c.815T>G (p.Ile272Arg)
c.899T>G (p.Ile300Arg)
c.662T>G (p.Ile221Arg)
c.107+72T>G (n.107+72T>G)
n.946T>G
 gnomAD v4
2g.232790818T=CA1335433314GIGYF2c.833T= (p.Ile278=)
c.179T= (p.Ile60=)
c.314T= (p.Ile105=)
c.89T= (p.Ile30=)
c.326T= (p.Ile109=)
c.815T= (p.Ile272=)
c.899T= (p.Ile300=)
c.662T= (p.Ile221=)
c.107+72T= (n.107+72T=)
n.946T=
2g.232790819A>CCA431807856GIGYF2c.834A>C (p.Ile278=)
c.180A>C (p.Ile60=)
c.315A>C (p.Ile105=)
c.90A>C (p.Ile30=)
c.327A>C (p.Ile109=)
c.816A>C (p.Ile272=)
c.900A>C (p.Ile300=)
c.663A>C (p.Ile221=)
c.107+73A>C (n.107+73A>C)
n.947A>C
2g.232790819A>GCA351011114GIGYF2c.834A>G (p.Ile278Met)
c.180A>G (p.Ile60Met)
c.315A>G (p.Ile105Met)
c.90A>G (p.Ile30Met)
c.327A>G (p.Ile109Met)
c.816A>G (p.Ile272Met)
c.900A>G (p.Ile300Met)
c.663A>G (p.Ile221Met)
c.107+73A>G (n.107+73A>G)
n.947A>G
2g.232790819A>TCA431807857GIGYF2c.834A>T (p.Ile278=)
c.180A>T (p.Ile60=)
c.315A>T (p.Ile105=)
c.90A>T (p.Ile30=)
c.327A>T (p.Ile109=)
c.816A>T (p.Ile272=)
c.900A>T (p.Ile300=)
c.663A>T (p.Ile221=)
c.107+73A>T (n.107+73A>T)
n.947A>T
2g.232790820G>ACA351011116GIGYF2c.835G>A (p.Asp279Asn)
c.181G>A (p.Asp61Asn)
c.316G>A (p.Asp106Asn)
c.91G>A (p.Asp31Asn)
c.328G>A (p.Asp110Asn)
c.817G>A (p.Asp273Asn)
c.901G>A (p.Asp301Asn)
c.664G>A (p.Asp222Asn)
c.107+74G>A (n.107+74G>A)
n.948G>A
 gnomAD v4
2g.232790820G>CCA351011119GIGYF2c.835G>C (p.Asp279His)
c.181G>C (p.Asp61His)
c.316G>C (p.Asp106His)
c.91G>C (p.Asp31His)
c.328G>C (p.Asp110His)
c.817G>C (p.Asp273His)
c.901G>C (p.Asp301His)
c.664G>C (p.Asp222His)
c.107+74G>C (n.107+74G>C)
n.948G>C
2g.232790820G>TCA351011121GIGYF2c.835G>T (p.Asp279Tyr)
c.181G>T (p.Asp61Tyr)
c.316G>T (p.Asp106Tyr)
c.91G>T (p.Asp31Tyr)
c.328G>T (p.Asp110Tyr)
c.817G>T (p.Asp273Tyr)
c.901G>T (p.Asp301Tyr)
c.664G>T (p.Asp222Tyr)
c.107+74G>T (n.107+74G>T)
n.948G>T
2g.232790821A=CA1335433315GIGYF2c.836A= (p.Asp279=)
c.182A= (p.Asp61=)
c.317A= (p.Asp106=)
c.92A= (p.Asp31=)
c.329A= (p.Asp110=)
c.818A= (p.Asp273=)
c.902A= (p.Asp301=)
c.665A= (p.Asp222=)
c.107+75A= (n.107+75A=)
n.949A=
2g.232790821A>CCA351011126GIGYF2c.836A>C (p.Asp279Ala)
c.182A>C (p.Asp61Ala)
c.317A>C (p.Asp106Ala)
c.92A>C (p.Asp31Ala)
c.329A>C (p.Asp110Ala)
c.818A>C (p.Asp273Ala)
c.902A>C (p.Asp301Ala)
c.665A>C (p.Asp222Ala)
c.107+75A>C (n.107+75A>C)
n.949A>C
2g.232790821A>GCA2170207GIGYF2c.836A>G (p.Asp279Gly)
c.182A>G (p.Asp61Gly)
c.317A>G (p.Asp106Gly)
c.92A>G (p.Asp31Gly)
c.329A>G (p.Asp110Gly)
c.818A>G (p.Asp273Gly)
c.902A>G (p.Asp301Gly)
c.665A>G (p.Asp222Gly)
c.107+75A>G (n.107+75A>G)
n.949A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790821A>TCA351011125GIGYF2c.836A>T (p.Asp279Val)
c.182A>T (p.Asp61Val)
c.317A>T (p.Asp106Val)
c.92A>T (p.Asp31Val)
c.329A>T (p.Asp110Val)
c.818A>T (p.Asp273Val)
c.902A>T (p.Asp301Val)
c.665A>T (p.Asp222Val)
c.107+75A>T (n.107+75A>T)
n.949A>T
2g.232790822T>ACA351011129GIGYF2c.837T>A (p.Asp279Glu)
c.183T>A (p.Asp61Glu)
c.318T>A (p.Asp106Glu)
c.93T>A (p.Asp31Glu)
c.330T>A (p.Asp110Glu)
c.819T>A (p.Asp273Glu)
c.903T>A (p.Asp301Glu)
c.666T>A (p.Asp222Glu)
c.107+76T>A (n.107+76T>A)
n.950T>A
2g.232790822T>CCA431807864GIGYF2c.837T>C (p.Asp279=)
c.183T>C (p.Asp61=)
c.318T>C (p.Asp106=)
c.93T>C (p.Asp31=)
c.330T>C (p.Asp110=)
c.819T>C (p.Asp273=)
c.903T>C (p.Asp301=)
c.666T>C (p.Asp222=)
c.107+76T>C (n.107+76T>C)
n.950T>C
2g.232790822T>GCA351011130GIGYF2c.837T>G (p.Asp279Glu)
c.183T>G (p.Asp61Glu)
c.318T>G (p.Asp106Glu)
c.93T>G (p.Asp31Glu)
c.330T>G (p.Asp110Glu)
c.819T>G (p.Asp273Glu)
c.903T>G (p.Asp301Glu)
c.666T>G (p.Asp222Glu)
c.107+76T>G (n.107+76T>G)
n.950T>G
2g.232790823G>ACA351011132GIGYF2c.838G>A (p.Asp280Asn)
c.184G>A (p.Asp62Asn)
c.319G>A (p.Asp107Asn)
c.94G>A (p.Asp32Asn)
c.331G>A (p.Asp111Asn)
c.820G>A (p.Asp274Asn)
c.904G>A (p.Asp302Asn)
c.667G>A (p.Asp223Asn)
c.107+77G>A (n.107+77G>A)
n.951G>A
2g.232790823G>CCA351011134GIGYF2c.838G>C (p.Asp280His)
c.184G>C (p.Asp62His)
c.319G>C (p.Asp107His)
c.94G>C (p.Asp32His)
c.331G>C (p.Asp111His)
c.820G>C (p.Asp274His)
c.904G>C (p.Asp302His)
c.667G>C (p.Asp223His)
c.107+77G>C (n.107+77G>C)
n.951G>C
 dbSNP
2g.232790823G=CA1335433316GIGYF2c.838G= (p.Asp280=)
c.184G= (p.Asp62=)
c.319G= (p.Asp107=)
c.94G= (p.Asp32=)
c.331G= (p.Asp111=)
c.820G= (p.Asp274=)
c.904G= (p.Asp302=)
c.667G= (p.Asp223=)
c.107+77G= (n.107+77G=)
n.951G=
2g.232790823G>TCA351011135GIGYF2c.838G>T (p.Asp280Tyr)
c.184G>T (p.Asp62Tyr)
c.319G>T (p.Asp107Tyr)
c.94G>T (p.Asp32Tyr)
c.331G>T (p.Asp111Tyr)
c.820G>T (p.Asp274Tyr)
c.904G>T (p.Asp302Tyr)
c.667G>T (p.Asp223Tyr)
c.107+77G>T (n.107+77G>T)
n.951G>T
2g.232790824A>CCA351011138GIGYF2c.839A>C (p.Asp280Ala)
c.185A>C (p.Asp62Ala)
c.320A>C (p.Asp107Ala)
c.95A>C (p.Asp32Ala)
c.332A>C (p.Asp111Ala)
c.821A>C (p.Asp274Ala)
c.905A>C (p.Asp302Ala)
c.668A>C (p.Asp223Ala)
c.107+78A>C (n.107+78A>C)
n.952A>C
2g.232790824A>GCA351011139GIGYF2c.839A>G (p.Asp280Gly)
c.185A>G (p.Asp62Gly)
c.320A>G (p.Asp107Gly)
c.95A>G (p.Asp32Gly)
c.332A>G (p.Asp111Gly)
c.821A>G (p.Asp274Gly)
c.905A>G (p.Asp302Gly)
c.668A>G (p.Asp223Gly)
c.107+78A>G (n.107+78A>G)
n.952A>G
 gnomAD v4
2g.232790824A>TCA351011142GIGYF2c.839A>T (p.Asp280Val)
c.185A>T (p.Asp62Val)
c.320A>T (p.Asp107Val)
c.95A>T (p.Asp32Val)
c.332A>T (p.Asp111Val)
c.821A>T (p.Asp274Val)
c.905A>T (p.Asp302Val)
c.668A>T (p.Asp223Val)
c.107+78A>T (n.107+78A>T)
n.952A>T
2g.232790825T>ACA351011144GIGYF2c.840T>A (p.Asp280Glu)
c.186T>A (p.Asp62Glu)
c.321T>A (p.Asp107Glu)
c.96T>A (p.Asp32Glu)
c.333T>A (p.Asp111Glu)
c.822T>A (p.Asp274Glu)
c.906T>A (p.Asp302Glu)
c.669T>A (p.Asp223Glu)
c.107+79T>A (n.107+79T>A)
n.953T>A
2g.232790825T>CCA431807873GIGYF2c.840T>C (p.Asp280=)
c.186T>C (p.Asp62=)
c.321T>C (p.Asp107=)
c.96T>C (p.Asp32=)
c.333T>C (p.Asp111=)
c.822T>C (p.Asp274=)
c.906T>C (p.Asp302=)
c.669T>C (p.Asp223=)
c.107+79T>C (n.107+79T>C)
n.953T>C
 gnomAD v4
2g.232790825T>GCA351011146GIGYF2c.840T>G (p.Asp280Glu)
c.186T>G (p.Asp62Glu)
c.321T>G (p.Asp107Glu)
c.96T>G (p.Asp32Glu)
c.333T>G (p.Asp111Glu)
c.822T>G (p.Asp274Glu)
c.906T>G (p.Asp302Glu)
c.669T>G (p.Asp223Glu)
c.107+79T>G (n.107+79T>G)
n.953T>G
2g.232790826G>ACA351011148GIGYF2c.841G>A (p.Asp281Asn)
c.187G>A (p.Asp63Asn)
c.322G>A (p.Asp108Asn)
c.97G>A (p.Asp33Asn)
c.334G>A (p.Asp112Asn)
c.823G>A (p.Asp275Asn)
c.907G>A (p.Asp303Asn)
c.670G>A (p.Asp224Asn)
c.107+80G>A (n.107+80G>A)
n.954G>A
2g.232790826G>CCA351011149GIGYF2c.841G>C (p.Asp281His)
c.187G>C (p.Asp63His)
c.322G>C (p.Asp108His)
c.97G>C (p.Asp33His)
c.334G>C (p.Asp112His)
c.823G>C (p.Asp275His)
c.907G>C (p.Asp303His)
c.670G>C (p.Asp224His)
c.107+80G>C (n.107+80G>C)
n.954G>C
2g.232790826G>TCA351011151GIGYF2c.841G>T (p.Asp281Tyr)
c.187G>T (p.Asp63Tyr)
c.322G>T (p.Asp108Tyr)
c.97G>T (p.Asp33Tyr)
c.334G>T (p.Asp112Tyr)
c.823G>T (p.Asp275Tyr)
c.907G>T (p.Asp303Tyr)
c.670G>T (p.Asp224Tyr)
c.107+80G>T (n.107+80G>T)
n.954G>T
2g.232790827A=CA1335433317GIGYF2c.842A= (p.Asp281=)
c.188A= (p.Asp63=)
c.323A= (p.Asp108=)
c.98A= (p.Asp33=)
c.335A= (p.Asp112=)
c.824A= (p.Asp275=)
c.908A= (p.Asp303=)
c.671A= (p.Asp224=)
c.107+81A= (n.107+81A=)
n.955A=
2g.232790827A>CCA351011153GIGYF2c.842A>C (p.Asp281Ala)
c.188A>C (p.Asp63Ala)
c.323A>C (p.Asp108Ala)
c.98A>C (p.Asp33Ala)
c.335A>C (p.Asp112Ala)
c.824A>C (p.Asp275Ala)
c.908A>C (p.Asp303Ala)
c.671A>C (p.Asp224Ala)
c.107+81A>C (n.107+81A>C)
n.955A>C
2g.232790827A>GCA351011157GIGYF2c.842A>G (p.Asp281Gly)
c.188A>G (p.Asp63Gly)
c.323A>G (p.Asp108Gly)
c.98A>G (p.Asp33Gly)
c.335A>G (p.Asp112Gly)
c.824A>G (p.Asp275Gly)
c.908A>G (p.Asp303Gly)
c.671A>G (p.Asp224Gly)
c.107+81A>G (n.107+81A>G)
n.955A>G
 dbSNP gnomAD v2 gnomAD v4
2g.232790827A>TCA351011155GIGYF2c.842A>T (p.Asp281Val)
c.188A>T (p.Asp63Val)
c.323A>T (p.Asp108Val)
c.98A>T (p.Asp33Val)
c.335A>T (p.Asp112Val)
c.824A>T (p.Asp275Val)
c.908A>T (p.Asp303Val)
c.671A>T (p.Asp224Val)
c.107+81A>T (n.107+81A>T)
n.955A>T
2g.232790828C>ACA351011160GIGYF2c.843C>A (p.Asp281Glu)
c.189C>A (p.Asp63Glu)
c.324C>A (p.Asp108Glu)
c.99C>A (p.Asp33Glu)
c.336C>A (p.Asp112Glu)
c.825C>A (p.Asp275Glu)
c.909C>A (p.Asp303Glu)
c.672C>A (p.Asp224Glu)
c.107+82C>A (n.107+82C>A)
n.956C>A
2g.232790828C=CA1335433318GIGYF2c.843C= (p.Asp281=)
c.189C= (p.Asp63=)
c.324C= (p.Asp108=)
c.99C= (p.Asp33=)
c.336C= (p.Asp112=)
c.825C= (p.Asp275=)
c.909C= (p.Asp303=)
c.672C= (p.Asp224=)
c.107+82C= (n.107+82C=)
n.956C=
2g.232790828C>GCA351011162GIGYF2c.843C>G (p.Asp281Glu)
c.189C>G (p.Asp63Glu)
c.324C>G (p.Asp108Glu)
c.99C>G (p.Asp33Glu)
c.336C>G (p.Asp112Glu)
c.825C>G (p.Asp275Glu)
c.909C>G (p.Asp303Glu)
c.672C>G (p.Asp224Glu)
c.107+82C>G (n.107+82C>G)
n.956C>G
2g.232790828C>TCA431807882GIGYF2c.843C>T (p.Asp281=)
c.189C>T (p.Asp63=)
c.324C>T (p.Asp108=)
c.99C>T (p.Asp33=)
c.336C>T (p.Asp112=)
c.825C>T (p.Asp275=)
c.909C>T (p.Asp303=)
c.672C>T (p.Asp224=)
c.107+82C>T (n.107+82C>T)
n.956C>T
 dbSNP gnomAD v4
2g.232790829A=CA1335433319GIGYF2c.844A= (p.Arg282=)
c.190A= (p.Arg64=)
c.325A= (p.Arg109=)
c.100A= (p.Arg34=)
c.337A= (p.Arg113=)
c.826A= (p.Arg276=)
c.910A= (p.Arg304=)
c.673A= (p.Arg225=)
c.107+83A= (n.107+83A=)
n.957A=
2g.232790829A>CCA431807885GIGYF2c.844A>C (p.Arg282=)
c.190A>C (p.Arg64=)
c.325A>C (p.Arg109=)
c.100A>C (p.Arg34=)
c.337A>C (p.Arg113=)
c.826A>C (p.Arg276=)
c.910A>C (p.Arg304=)
c.673A>C (p.Arg225=)
c.107+83A>C (n.107+83A>C)
n.957A>C
2g.232790829A>GCA351011164GIGYF2c.844A>G (p.Arg282Gly)
c.190A>G (p.Arg64Gly)
c.325A>G (p.Arg109Gly)
c.100A>G (p.Arg34Gly)
c.337A>G (p.Arg113Gly)
c.826A>G (p.Arg276Gly)
c.910A>G (p.Arg304Gly)
c.673A>G (p.Arg225Gly)
c.107+83A>G (n.107+83A>G)
n.957A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790829A>TCA351011166GIGYF2c.844A>T (p.Arg282Trp)
c.190A>T (p.Arg64Trp)
c.325A>T (p.Arg109Trp)
c.100A>T (p.Arg34Trp)
c.337A>T (p.Arg113Trp)
c.826A>T (p.Arg276Trp)
c.910A>T (p.Arg304Trp)
c.673A>T (p.Arg225Trp)
c.107+83A>T (n.107+83A>T)
n.957A>T
2g.232790830G>ACA351011168GIGYF2c.845G>A (p.Arg282Lys)
c.191G>A (p.Arg64Lys)
c.326G>A (p.Arg109Lys)
c.101G>A (p.Arg34Lys)
c.338G>A (p.Arg113Lys)
c.827G>A (p.Arg276Lys)
c.911G>A (p.Arg304Lys)
c.674G>A (p.Arg225Lys)
c.107+84G>A (n.107+84G>A)
n.958G>A
2g.232790830G>CCA351011170GIGYF2c.845G>C (p.Arg282Thr)
c.191G>C (p.Arg64Thr)
c.326G>C (p.Arg109Thr)
c.101G>C (p.Arg34Thr)
c.338G>C (p.Arg113Thr)
c.827G>C (p.Arg276Thr)
c.911G>C (p.Arg304Thr)
c.674G>C (p.Arg225Thr)
c.107+84G>C (n.107+84G>C)
n.958G>C
2g.232790830G=CA1335433320GIGYF2c.845G= (p.Arg282=)
c.191G= (p.Arg64=)
c.326G= (p.Arg109=)
c.101G= (p.Arg34=)
c.338G= (p.Arg113=)
c.827G= (p.Arg276=)
c.911G= (p.Arg304=)
c.674G= (p.Arg225=)
c.107+84G= (n.107+84G=)
n.958G=
2g.232790830G>TCA351011172GIGYF2c.845G>T (p.Arg282Met)
c.191G>T (p.Arg64Met)
c.326G>T (p.Arg109Met)
c.101G>T (p.Arg34Met)
c.338G>T (p.Arg113Met)
c.827G>T (p.Arg276Met)
c.911G>T (p.Arg304Met)
c.674G>T (p.Arg225Met)
c.107+84G>T (n.107+84G>T)
n.958G>T
2g.232790830_232790831insTATTTGAATAAGAAAATCACA431807891GIGYF2c.845_846insTATTTGAATAAGAAAATCA (p.Arg282SerfsTer3)
c.191_192insTATTTGAATAAGAAAATCA (p.Arg64SerfsTer3)
c.326_327insTATTTGAATAAGAAAATCA (p.Arg109SerfsTer3)
c.101_102insTATTTGAATAAGAAAATCA (p.Arg34SerfsTer3)
c.338_339insTATTTGAATAAGAAAATCA (p.Arg113SerfsTer3)
c.827_828insTATTTGAATAAGAAAATCA (p.Arg276SerfsTer3)
c.911_912insTATTTGAATAAGAAAATCA (p.Arg304SerfsTer3)
c.674_675insTATTTGAATAAGAAAATCA (p.Arg225SerfsTer3)
c.107+84_107+85insTATTTGAATAAGAAAATCA (n.107+84_107+85insTATTTGAATAAGAAAATCA)
n.958_959insTATTTGAATAAGAAAATCA
 dbSNP
2g.232790831G>ACA431807893GIGYF2c.846G>A (p.Arg282=)
c.192G>A (p.Arg64=)
c.327G>A (p.Arg109=)
c.102G>A (p.Arg34=)
c.339G>A (p.Arg113=)
c.828G>A (p.Arg276=)
c.912G>A (p.Arg304=)
c.675G>A (p.Arg225=)
c.107+85G>A (n.107+85G>A)
n.959G>A
 gnomAD v4
2g.232790831G>CCA351011174GIGYF2c.846G>C (p.Arg282Ser)
c.192G>C (p.Arg64Ser)
c.327G>C (p.Arg109Ser)
c.102G>C (p.Arg34Ser)
c.339G>C (p.Arg113Ser)
c.828G>C (p.Arg276Ser)
c.912G>C (p.Arg304Ser)
c.675G>C (p.Arg225Ser)
c.107+85G>C (n.107+85G>C)
n.959G>C
2g.232790831G>TCA351011175GIGYF2c.846G>T (p.Arg282Ser)
c.192G>T (p.Arg64Ser)
c.327G>T (p.Arg109Ser)
c.102G>T (p.Arg34Ser)
c.339G>T (p.Arg113Ser)
c.828G>T (p.Arg276Ser)
c.912G>T (p.Arg304Ser)
c.675G>T (p.Arg225Ser)
c.107+85G>T (n.107+85G>T)
n.959G>T
2g.232790832G>ACA351011178GIGYF2c.847G>A (p.Asp283Asn)
c.193G>A (p.Asp65Asn)
c.328G>A (p.Asp110Asn)
c.103G>A (p.Asp35Asn)
c.340G>A (p.Asp114Asn)
c.829G>A (p.Asp277Asn)
c.913G>A (p.Asp305Asn)
c.676G>A (p.Asp226Asn)
c.107+86G>A (n.107+86G>A)
n.960G>A
 dbSNP gnomAD v2
2g.232790832G>CCA351011179GIGYF2c.847G>C (p.Asp283His)
c.193G>C (p.Asp65His)
c.328G>C (p.Asp110His)
c.103G>C (p.Asp35His)
c.340G>C (p.Asp114His)
c.829G>C (p.Asp277His)
c.913G>C (p.Asp305His)
c.676G>C (p.Asp226His)
c.107+86G>C (n.107+86G>C)
n.960G>C
 dbSNP
2g.232790832G=CA1335433321GIGYF2c.847G= (p.Asp283=)
c.193G= (p.Asp65=)
c.328G= (p.Asp110=)
c.103G= (p.Asp35=)
c.340G= (p.Asp114=)
c.829G= (p.Asp277=)
c.913G= (p.Asp305=)
c.676G= (p.Asp226=)
c.107+86G= (n.107+86G=)
n.960G=
2g.232790832G>TCA351011182GIGYF2c.847G>T (p.Asp283Tyr)
c.193G>T (p.Asp65Tyr)
c.328G>T (p.Asp110Tyr)
c.103G>T (p.Asp35Tyr)
c.340G>T (p.Asp114Tyr)
c.829G>T (p.Asp277Tyr)
c.913G>T (p.Asp305Tyr)
c.676G>T (p.Asp226Tyr)
c.107+86G>T (n.107+86G>T)
n.960G>T
 dbSNP
2g.232790833A=CA1335433322GIGYF2c.848A= (p.Asp283=)
c.194A= (p.Asp65=)
c.329A= (p.Asp110=)
c.104A= (p.Asp35=)
c.341A= (p.Asp114=)
c.830A= (p.Asp277=)
c.914A= (p.Asp305=)
c.677A= (p.Asp226=)
c.107+87A= (n.107+87A=)
n.961A=
2g.232790833A>CCA2170208GIGYF2c.848A>C (p.Asp283Ala)
c.194A>C (p.Asp65Ala)
c.329A>C (p.Asp110Ala)
c.104A>C (p.Asp35Ala)
c.341A>C (p.Asp114Ala)
c.830A>C (p.Asp277Ala)
c.914A>C (p.Asp305Ala)
c.677A>C (p.Asp226Ala)
c.107+87A>C (n.107+87A>C)
n.961A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790833A>GCA2170209GIGYF2c.848A>G (p.Asp283Gly)
c.194A>G (p.Asp65Gly)
c.329A>G (p.Asp110Gly)
c.104A>G (p.Asp35Gly)
c.341A>G (p.Asp114Gly)
c.830A>G (p.Asp277Gly)
c.914A>G (p.Asp305Gly)
c.677A>G (p.Asp226Gly)
c.107+87A>G (n.107+87A>G)
n.961A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790833A>TCA351011185GIGYF2c.848A>T (p.Asp283Val)
c.194A>T (p.Asp65Val)
c.329A>T (p.Asp110Val)
c.104A>T (p.Asp35Val)
c.341A>T (p.Asp114Val)
c.830A>T (p.Asp277Val)
c.914A>T (p.Asp305Val)
c.677A>T (p.Asp226Val)
c.107+87A>T (n.107+87A>T)
n.961A>T
2g.232790833dupCA431807904GIGYF2c.848dup (p.Asp283GlufsTer2)
c.194dup (p.Asp65GlufsTer2)
c.329dup (p.Asp110GlufsTer2)
c.104dup (p.Asp35GlufsTer2)
c.341dup (p.Asp114GlufsTer2)
c.830dup (p.Asp277GlufsTer2)
c.914dup (p.Asp305GlufsTer2)
c.677dup (p.Asp226GlufsTer2)
c.107+87dup (n.107+87dup)
n.961dup
 dbSNP
2g.232790834T>ACA351011188GIGYF2c.849T>A (p.Asp283Glu)
c.195T>A (p.Asp65Glu)
c.330T>A (p.Asp110Glu)
c.105T>A (p.Asp35Glu)
c.342T>A (p.Asp114Glu)
c.831T>A (p.Asp277Glu)
c.915T>A (p.Asp305Glu)
c.678T>A (p.Asp226Glu)
c.107+88T>A (n.107+88T>A)
n.962T>A
2g.232790834T>CCA431807908GIGYF2c.849T>C (p.Asp283=)
c.195T>C (p.Asp65=)
c.330T>C (p.Asp110=)
c.105T>C (p.Asp35=)
c.342T>C (p.Asp114=)
c.831T>C (p.Asp277=)
c.915T>C (p.Asp305=)
c.678T>C (p.Asp226=)
c.107+88T>C (n.107+88T>C)
n.962T>C
2g.232790834T>GCA351011190GIGYF2c.849T>G (p.Asp283Glu)
c.195T>G (p.Asp65Glu)
c.330T>G (p.Asp110Glu)
c.105T>G (p.Asp35Glu)
c.342T>G (p.Asp114Glu)
c.831T>G (p.Asp277Glu)
c.915T>G (p.Asp305Glu)
c.678T>G (p.Asp226Glu)
c.107+88T>G (n.107+88T>G)
n.962T>G
2g.232790835A=CA1335433323GIGYF2c.850A= (p.Ser284=)
c.196A= (p.Ser66=)
c.331A= (p.Ser111=)
c.106A= (p.Ser36=)
c.343A= (p.Ser115=)
c.832A= (p.Ser278=)
c.916A= (p.Ser306=)
c.679A= (p.Ser227=)
c.107+89A= (n.107+89A=)
n.963A=
2g.232790835A>CCA351011193GIGYF2c.850A>C (p.Ser284Arg)
c.196A>C (p.Ser66Arg)
c.331A>C (p.Ser111Arg)
c.106A>C (p.Ser36Arg)
c.343A>C (p.Ser115Arg)
c.832A>C (p.Ser278Arg)
c.916A>C (p.Ser306Arg)
c.679A>C (p.Ser227Arg)
c.107+89A>C (n.107+89A>C)
n.963A>C
2g.232790835A>GCA2170210GIGYF2c.850A>G (p.Ser284Gly)
c.196A>G (p.Ser66Gly)
c.331A>G (p.Ser111Gly)
c.106A>G (p.Ser36Gly)
c.343A>G (p.Ser115Gly)
c.832A>G (p.Ser278Gly)
c.916A>G (p.Ser306Gly)
c.679A>G (p.Ser227Gly)
c.107+89A>G (n.107+89A>G)
n.963A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790835A>TCA351011197GIGYF2c.850A>T (p.Ser284Cys)
c.196A>T (p.Ser66Cys)
c.331A>T (p.Ser111Cys)
c.106A>T (p.Ser36Cys)
c.343A>T (p.Ser115Cys)
c.832A>T (p.Ser278Cys)
c.916A>T (p.Ser306Cys)
c.679A>T (p.Ser227Cys)
c.107+89A>T (n.107+89A>T)
n.963A>T
2g.232790836G>ACA351011199GIGYF2c.851G>A (p.Ser284Asn)
c.197G>A (p.Ser66Asn)
c.332G>A (p.Ser111Asn)
c.107G>A (p.Ser36Asn)
c.344G>A (p.Ser115Asn)
c.833G>A (p.Ser278Asn)
c.917G>A (p.Ser306Asn)
c.680G>A (p.Ser227Asn)
c.107+90G>A (n.107+90G>A)
n.964G>A
2g.232790836G>CCA2170211GIGYF2c.851G>C (p.Ser284Thr)
c.197G>C (p.Ser66Thr)
c.332G>C (p.Ser111Thr)
c.107G>C (p.Ser36Thr)
c.344G>C (p.Ser115Thr)
c.833G>C (p.Ser278Thr)
c.917G>C (p.Ser306Thr)
c.680G>C (p.Ser227Thr)
c.107+90G>C (n.107+90G>C)
n.964G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790836G=CA1335433324GIGYF2c.851G= (p.Ser284=)
c.197G= (p.Ser66=)
c.332G= (p.Ser111=)
c.107G= (p.Ser36=)
c.344G= (p.Ser115=)
c.833G= (p.Ser278=)
c.917G= (p.Ser306=)
c.680G= (p.Ser227=)
c.107+90G= (n.107+90G=)
n.964G=
2g.232790836G>TCA351011201GIGYF2c.851G>T (p.Ser284Ile)
c.197G>T (p.Ser66Ile)
c.332G>T (p.Ser111Ile)
c.107G>T (p.Ser36Ile)
c.344G>T (p.Ser115Ile)
c.833G>T (p.Ser278Ile)
c.917G>T (p.Ser306Ile)
c.680G>T (p.Ser227Ile)
c.107+90G>T (n.107+90G>T)
n.964G>T
2g.232790837C>ACA351011204GIGYF2c.852C>A (p.Ser284Arg)
c.198C>A (p.Ser66Arg)
c.333C>A (p.Ser111Arg)
c.108C>A (p.Ser36Arg)
c.345C>A (p.Ser115Arg)
c.834C>A (p.Ser278Arg)
c.918C>A (p.Ser306Arg)
c.681C>A (p.Ser227Arg)
c.107+91C>A (n.107+91C>A)
n.965C>A
2g.232790837C>GCA351011206GIGYF2c.852C>G (p.Ser284Arg)
c.198C>G (p.Ser66Arg)
c.333C>G (p.Ser111Arg)
c.108C>G (p.Ser36Arg)
c.345C>G (p.Ser115Arg)
c.834C>G (p.Ser278Arg)
c.918C>G (p.Ser306Arg)
c.681C>G (p.Ser227Arg)
c.107+91C>G (n.107+91C>G)
n.965C>G
2g.232790837C>TCA431807918GIGYF2c.852C>T (p.Ser284=)
c.198C>T (p.Ser66=)
c.333C>T (p.Ser111=)
c.108C>T (p.Ser36=)
c.345C>T (p.Ser115=)
c.834C>T (p.Ser278=)
c.918C>T (p.Ser306=)
c.681C>T (p.Ser227=)
c.107+91C>T (n.107+91C>T)
n.965C>T
2g.232790838T>ACA351011208GIGYF2c.853T>A (p.Leu285Met)
c.199T>A (p.Leu67Met)
c.334T>A (p.Leu112Met)
c.109T>A (p.Leu37Met)
c.346T>A (p.Leu116Met)
c.835T>A (p.Leu279Met)
c.919T>A (p.Leu307Met)
c.682T>A (p.Leu228Met)
c.107+92T>A (n.107+92T>A)
n.966T>A
2g.232790838T>CCA431807922GIGYF2c.853T>C (p.Leu285=)
c.199T>C (p.Leu67=)
c.334T>C (p.Leu112=)
c.109T>C (p.Leu37=)
c.346T>C (p.Leu116=)
c.835T>C (p.Leu279=)
c.919T>C (p.Leu307=)
c.682T>C (p.Leu228=)
c.107+92T>C (n.107+92T>C)
n.966T>C
2g.232790838T>GCA66994374GIGYF2c.853T>G (p.Leu285Val)
c.199T>G (p.Leu67Val)
c.334T>G (p.Leu112Val)
c.109T>G (p.Leu37Val)
c.346T>G (p.Leu116Val)
c.835T>G (p.Leu279Val)
c.919T>G (p.Leu307Val)
c.682T>G (p.Leu228Val)
c.107+92T>G (n.107+92T>G)
n.966T>G
 dbSNP
2g.232790838T=CA1335433325GIGYF2c.853T= (p.Leu285=)
c.199T= (p.Leu67=)
c.334T= (p.Leu112=)
c.109T= (p.Leu37=)
c.346T= (p.Leu116=)
c.835T= (p.Leu279=)
c.919T= (p.Leu307=)
c.682T= (p.Leu228=)
c.107+92T= (n.107+92T=)
n.966T=
2g.232790839T>ACA351011215GIGYF2c.854T>A (p.Leu285Ter)
c.200T>A (p.Leu67Ter)
c.335T>A (p.Leu112Ter)
c.110T>A (p.Leu37Ter)
c.347T>A (p.Leu116Ter)
c.836T>A (p.Leu279Ter)
c.920T>A (p.Leu307Ter)
c.683T>A (p.Leu228Ter)
c.107+93T>A (n.107+93T>A)
n.967T>A
2g.232790839T>CCA351011217GIGYF2c.854T>C (p.Leu285Ser)
c.200T>C (p.Leu67Ser)
c.335T>C (p.Leu112Ser)
c.110T>C (p.Leu37Ser)
c.347T>C (p.Leu116Ser)
c.836T>C (p.Leu279Ser)
c.920T>C (p.Leu307Ser)
c.683T>C (p.Leu228Ser)
c.107+93T>C (n.107+93T>C)
n.967T>C
2g.232790839T>GCA351011213GIGYF2c.854T>G (p.Leu285Trp)
c.200T>G (p.Leu67Trp)
c.335T>G (p.Leu112Trp)
c.110T>G (p.Leu37Trp)
c.347T>G (p.Leu116Trp)
c.836T>G (p.Leu279Trp)
c.920T>G (p.Leu307Trp)
c.683T>G (p.Leu228Trp)
c.107+93T>G (n.107+93T>G)
n.967T>G
2g.232790840G>ACA431807928GIGYF2c.855G>A (p.Leu285=)
c.201G>A (p.Leu67=)
c.336G>A (p.Leu112=)
c.111G>A (p.Leu37=)
c.348G>A (p.Leu116=)
c.837G>A (p.Leu279=)
c.921G>A (p.Leu307=)
c.684G>A (p.Leu228=)
c.107+94G>A (n.107+94G>A)
n.968G>A
 gnomAD v4
2g.232790840G>CCA351011220GIGYF2c.855G>C (p.Leu285Phe)
c.201G>C (p.Leu67Phe)
c.336G>C (p.Leu112Phe)
c.111G>C (p.Leu37Phe)
c.348G>C (p.Leu116Phe)
c.837G>C (p.Leu279Phe)
c.921G>C (p.Leu307Phe)
c.684G>C (p.Leu228Phe)
c.107+94G>C (n.107+94G>C)
n.968G>C
2g.232790840G>TCA351011221GIGYF2c.855G>T (p.Leu285Phe)
c.201G>T (p.Leu67Phe)
c.336G>T (p.Leu112Phe)
c.111G>T (p.Leu37Phe)
c.348G>T (p.Leu116Phe)
c.837G>T (p.Leu279Phe)
c.921G>T (p.Leu307Phe)
c.684G>T (p.Leu228Phe)
c.107+94G>T (n.107+94G>T)
n.968G>T
2g.232790841C>ACA351011223GIGYF2c.856C>A (p.Pro286Thr)
c.202C>A (p.Pro68Thr)
c.337C>A (p.Pro113Thr)
c.112C>A (p.Pro38Thr)
c.349C>A (p.Pro117Thr)
c.838C>A (p.Pro280Thr)
c.922C>A (p.Pro308Thr)
c.685C>A (p.Pro229Thr)
c.107+95C>A (n.107+95C>A)
n.969C>A
2g.232790841C>GCA351011224GIGYF2c.856C>G (p.Pro286Ala)
c.202C>G (p.Pro68Ala)
c.337C>G (p.Pro113Ala)
c.112C>G (p.Pro38Ala)
c.349C>G (p.Pro117Ala)
c.838C>G (p.Pro280Ala)
c.922C>G (p.Pro308Ala)
c.685C>G (p.Pro229Ala)
c.107+95C>G (n.107+95C>G)
n.969C>G
2g.232790841C>TCA351011225GIGYF2c.856C>T (p.Pro286Ser)
c.202C>T (p.Pro68Ser)
c.337C>T (p.Pro113Ser)
c.112C>T (p.Pro38Ser)
c.349C>T (p.Pro117Ser)
c.838C>T (p.Pro280Ser)
c.922C>T (p.Pro308Ser)
c.685C>T (p.Pro229Ser)
c.107+95C>T (n.107+95C>T)
n.969C>T
 COSMIC COSMIC COSMIC
2g.232790842C>ACA351011226GIGYF2c.857C>A (p.Pro286His)
c.203C>A (p.Pro68His)
c.338C>A (p.Pro113His)
c.113C>A (p.Pro38His)
c.350C>A (p.Pro117His)
c.839C>A (p.Pro280His)
c.923C>A (p.Pro308His)
c.686C>A (p.Pro229His)
c.107+96C>A (n.107+96C>A)
n.970C>A
2g.232790842C>GCA351011228GIGYF2c.857C>G (p.Pro286Arg)
c.203C>G (p.Pro68Arg)
c.338C>G (p.Pro113Arg)
c.113C>G (p.Pro38Arg)
c.350C>G (p.Pro117Arg)
c.839C>G (p.Pro280Arg)
c.923C>G (p.Pro308Arg)
c.686C>G (p.Pro229Arg)
c.107+96C>G (n.107+96C>G)
n.970C>G
2g.232790842C>TCA351011230GIGYF2c.857C>T (p.Pro286Leu)
c.203C>T (p.Pro68Leu)
c.338C>T (p.Pro113Leu)
c.113C>T (p.Pro38Leu)
c.350C>T (p.Pro117Leu)
c.839C>T (p.Pro280Leu)
c.923C>T (p.Pro308Leu)
c.686C>T (p.Pro229Leu)
c.107+96C>T (n.107+96C>T)
n.970C>T
2g.232790843C>ACA431807937GIGYF2c.858C>A (p.Pro286=)
c.204C>A (p.Pro68=)
c.339C>A (p.Pro113=)
c.114C>A (p.Pro38=)
c.351C>A (p.Pro117=)
c.840C>A (p.Pro280=)
c.924C>A (p.Pro308=)
c.687C>A (p.Pro229=)
c.107+97C>A (n.107+97C>A)
n.971C>A
2g.232790843C=CA1335433326GIGYF2c.858C= (p.Pro286=)
c.204C= (p.Pro68=)
c.339C= (p.Pro113=)
c.114C= (p.Pro38=)
c.351C= (p.Pro117=)
c.840C= (p.Pro280=)
c.924C= (p.Pro308=)
c.687C= (p.Pro229=)
c.107+97C= (n.107+97C=)
n.971C=
2g.232790843C>GCA431807939GIGYF2c.858C>G (p.Pro286=)
c.204C>G (p.Pro68=)
c.339C>G (p.Pro113=)
c.114C>G (p.Pro38=)
c.351C>G (p.Pro117=)
c.840C>G (p.Pro280=)
c.924C>G (p.Pro308=)
c.687C>G (p.Pro229=)
c.107+97C>G (n.107+97C>G)
n.971C>G
2g.232790843C>TCA2170212GIGYF2c.858C>T (p.Pro286=)
c.204C>T (p.Pro68=)
c.339C>T (p.Pro113=)
c.114C>T (p.Pro38=)
c.351C>T (p.Pro117=)
c.840C>T (p.Pro280=)
c.924C>T (p.Pro308=)
c.687C>T (p.Pro229=)
c.107+97C>T (n.107+97C>T)
n.971C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790844G>ACA351011233GIGYF2c.859G>A (p.Glu287Lys)
c.205G>A (p.Glu69Lys)
c.340G>A (p.Glu114Lys)
c.115G>A (p.Glu39Lys)
c.352G>A (p.Glu118Lys)
c.841G>A (p.Glu281Lys)
c.925G>A (p.Glu309Lys)
c.688G>A (p.Glu230Lys)
c.107+98G>A (n.107+98G>A)
n.972G>A
 dbSNP gnomAD v2 gnomAD v4
2g.232790844G>CCA351011234GIGYF2c.859G>C (p.Glu287Gln)
c.205G>C (p.Glu69Gln)
c.340G>C (p.Glu114Gln)
c.115G>C (p.Glu39Gln)
c.352G>C (p.Glu118Gln)
c.841G>C (p.Glu281Gln)
c.925G>C (p.Glu309Gln)
c.688G>C (p.Glu230Gln)
c.107+98G>C (n.107+98G>C)
n.972G>C
2g.232790844G=CA1335433327GIGYF2c.859G= (p.Glu287=)
c.205G= (p.Glu69=)
c.340G= (p.Glu114=)
c.115G= (p.Glu39=)
c.352G= (p.Glu118=)
c.841G= (p.Glu281=)
c.925G= (p.Glu309=)
c.688G= (p.Glu230=)
c.107+98G= (n.107+98G=)
n.972G=
2g.232790844G>TCA351011236GIGYF2c.859G>T (p.Glu287Ter)
c.205G>T (p.Glu69Ter)
c.340G>T (p.Glu114Ter)
c.115G>T (p.Glu39Ter)
c.352G>T (p.Glu118Ter)
c.841G>T (p.Glu281Ter)
c.925G>T (p.Glu309Ter)
c.688G>T (p.Glu230Ter)
c.107+98G>T (n.107+98G>T)
n.972G>T
2g.232790845A>CCA351011238GIGYF2c.860A>C (p.Glu287Ala)
c.206A>C (p.Glu69Ala)
c.341A>C (p.Glu114Ala)
c.116A>C (p.Glu39Ala)
c.353A>C (p.Glu118Ala)
c.842A>C (p.Glu281Ala)
c.926A>C (p.Glu309Ala)
c.689A>C (p.Glu230Ala)
c.107+99A>C (n.107+99A>C)
n.973A>C
2g.232790845A>GCA351011240GIGYF2c.860A>G (p.Glu287Gly)
c.206A>G (p.Glu69Gly)
c.341A>G (p.Glu114Gly)
c.116A>G (p.Glu39Gly)
c.353A>G (p.Glu118Gly)
c.842A>G (p.Glu281Gly)
c.926A>G (p.Glu309Gly)
c.689A>G (p.Glu230Gly)
c.107+99A>G (n.107+99A>G)
n.973A>G
2g.232790845A>TCA351011242GIGYF2c.860A>T (p.Glu287Val)
c.206A>T (p.Glu69Val)
c.341A>T (p.Glu114Val)
c.116A>T (p.Glu39Val)
c.353A>T (p.Glu118Val)
c.842A>T (p.Glu281Val)
c.926A>T (p.Glu309Val)
c.689A>T (p.Glu230Val)
c.107+99A>T (n.107+99A>T)
n.973A>T
2g.232790846A>CCA351011243GIGYF2c.861A>C (p.Glu287Asp)
c.207A>C (p.Glu69Asp)
c.342A>C (p.Glu114Asp)
c.117A>C (p.Glu39Asp)
c.354A>C (p.Glu118Asp)
c.843A>C (p.Glu281Asp)
c.927A>C (p.Glu309Asp)
c.690A>C (p.Glu230Asp)
c.107+100A>C (n.107+100A>C)
n.974A>C
2g.232790846A>GCA431807947GIGYF2c.861A>G (p.Glu287=)
c.207A>G (p.Glu69=)
c.342A>G (p.Glu114=)
c.117A>G (p.Glu39=)
c.354A>G (p.Glu118=)
c.843A>G (p.Glu281=)
c.927A>G (p.Glu309=)
c.690A>G (p.Glu230=)
c.107+100A>G (n.107+100A>G)
n.974A>G
2g.232790846A>TCA351011244GIGYF2c.861A>T (p.Glu287Asp)
c.207A>T (p.Glu69Asp)
c.342A>T (p.Glu114Asp)
c.117A>T (p.Glu39Asp)
c.354A>T (p.Glu118Asp)
c.843A>T (p.Glu281Asp)
c.927A>T (p.Glu309Asp)
c.690A>T (p.Glu230Asp)
c.107+100A>T (n.107+100A>T)
n.974A>T
2g.232790847T>ACA351011246GIGYF2c.862T>A (p.Trp288Arg)
c.208T>A (p.Trp70Arg)
c.343T>A (p.Trp115Arg)
c.118T>A (p.Trp40Arg)
c.355T>A (p.Trp119Arg)
c.844T>A (p.Trp282Arg)
c.928T>A (p.Trp310Arg)
c.691T>A (p.Trp231Arg)
c.107+101T>A (n.107+101T>A)
n.975T>A
2g.232790847T>CCA351011248GIGYF2c.862T>C (p.Trp288Arg)
c.208T>C (p.Trp70Arg)
c.343T>C (p.Trp115Arg)
c.118T>C (p.Trp40Arg)
c.355T>C (p.Trp119Arg)
c.844T>C (p.Trp282Arg)
c.928T>C (p.Trp310Arg)
c.691T>C (p.Trp231Arg)
c.107+101T>C (n.107+101T>C)
n.975T>C
 dbSNP
2g.232790847T>GCA351011250GIGYF2c.862T>G (p.Trp288Gly)
c.208T>G (p.Trp70Gly)
c.343T>G (p.Trp115Gly)
c.118T>G (p.Trp40Gly)
c.355T>G (p.Trp119Gly)
c.844T>G (p.Trp282Gly)
c.928T>G (p.Trp310Gly)
c.691T>G (p.Trp231Gly)
c.107+101T>G (n.107+101T>G)
n.975T>G
2g.232790847T=CA1335433328GIGYF2c.862T= (p.Trp288=)
c.208T= (p.Trp70=)
c.343T= (p.Trp115=)
c.118T= (p.Trp40=)
c.355T= (p.Trp119=)
c.844T= (p.Trp282=)
c.928T= (p.Trp310=)
c.691T= (p.Trp231=)
c.107+101T= (n.107+101T=)
n.975T=
2g.232790848G>ACA351011252GIGYF2c.863G>A (p.Trp288Ter)
c.209G>A (p.Trp70Ter)
c.344G>A (p.Trp115Ter)
c.119G>A (p.Trp40Ter)
c.356G>A (p.Trp119Ter)
c.845G>A (p.Trp282Ter)
c.929G>A (p.Trp310Ter)
c.692G>A (p.Trp231Ter)
c.107+102G>A (n.107+102G>A)
n.976G>A
2g.232790848G>CCA351011254GIGYF2c.863G>C (p.Trp288Ser)
c.209G>C (p.Trp70Ser)
c.344G>C (p.Trp115Ser)
c.119G>C (p.Trp40Ser)
c.356G>C (p.Trp119Ser)
c.845G>C (p.Trp282Ser)
c.929G>C (p.Trp310Ser)
c.692G>C (p.Trp231Ser)
c.107+102G>C (n.107+102G>C)
n.976G>C
 gnomAD v4
2g.232790848G>TCA351011256GIGYF2c.863G>T (p.Trp288Leu)
c.209G>T (p.Trp70Leu)
c.344G>T (p.Trp115Leu)
c.119G>T (p.Trp40Leu)
c.356G>T (p.Trp119Leu)
c.845G>T (p.Trp282Leu)
c.929G>T (p.Trp310Leu)
c.692G>T (p.Trp231Leu)
c.107+102G>T (n.107+102G>T)
n.976G>T
2g.232790849G>ACA351011258GIGYF2c.864G>A (p.Trp288Ter)
c.210G>A (p.Trp70Ter)
c.345G>A (p.Trp115Ter)
c.120G>A (p.Trp40Ter)
c.357G>A (p.Trp119Ter)
c.846G>A (p.Trp282Ter)
c.930G>A (p.Trp310Ter)
c.693G>A (p.Trp231Ter)
c.107+103G>A (n.107+103G>A)
n.977G>A
2g.232790849G>CCA351011260GIGYF2c.864G>C (p.Trp288Cys)
c.210G>C (p.Trp70Cys)
c.345G>C (p.Trp115Cys)
c.120G>C (p.Trp40Cys)
c.357G>C (p.Trp119Cys)
c.846G>C (p.Trp282Cys)
c.930G>C (p.Trp310Cys)
c.693G>C (p.Trp231Cys)
c.107+103G>C (n.107+103G>C)
n.977G>C
2g.232790849G>TCA351011262GIGYF2c.864G>T (p.Trp288Cys)
c.210G>T (p.Trp70Cys)
c.345G>T (p.Trp115Cys)
c.120G>T (p.Trp40Cys)
c.357G>T (p.Trp119Cys)
c.846G>T (p.Trp282Cys)
c.930G>T (p.Trp310Cys)
c.693G>T (p.Trp231Cys)
c.107+103G>T (n.107+103G>T)
n.977G>T
2g.232790850T>ACA351011264GIGYF2c.865T>A (p.Cys289Ser)
c.211T>A (p.Cys71Ser)
c.346T>A (p.Cys116Ser)
c.121T>A (p.Cys41Ser)
c.358T>A (p.Cys120Ser)
c.847T>A (p.Cys283Ser)
c.931T>A (p.Cys311Ser)
c.694T>A (p.Cys232Ser)
c.358T>A
c.107+104T>A (n.107+104T>A)
n.978T>A
2g.232790850T>CCA351011266GIGYF2c.865T>C (p.Cys289Arg)
c.211T>C (p.Cys71Arg)
c.346T>C (p.Cys116Arg)
c.121T>C (p.Cys41Arg)
c.358T>C (p.Cys120Arg)
c.847T>C (p.Cys283Arg)
c.931T>C (p.Cys311Arg)
c.694T>C (p.Cys232Arg)
c.358T>C
c.107+104T>C (n.107+104T>C)
n.978T>C
 gnomAD v4
2g.232790850T>GCA351011268GIGYF2c.865T>G (p.Cys289Gly)
c.211T>G (p.Cys71Gly)
c.346T>G (p.Cys116Gly)
c.121T>G (p.Cys41Gly)
c.358T>G (p.Cys120Gly)
c.847T>G (p.Cys283Gly)
c.931T>G (p.Cys311Gly)
c.694T>G (p.Cys232Gly)
c.358T>G
c.107+104T>G (n.107+104T>G)
n.978T>G
2g.232790851G>ACA351011275GIGYF2c.866G>A (p.Cys289Tyr)
c.212G>A (p.Cys71Tyr)
c.347G>A (p.Cys116Tyr)
c.122G>A (p.Cys41Tyr)
c.359G>A (p.Cys120Tyr)
c.848G>A (p.Cys283Tyr)
c.932G>A (p.Cys311Tyr)
c.695G>A (p.Cys232Tyr)
c.107+105G>A (n.107+105G>A)
n.979G>A
2g.232790851G>CCA351011273GIGYF2c.866G>C (p.Cys289Ser)
c.212G>C (p.Cys71Ser)
c.347G>C (p.Cys116Ser)
c.122G>C (p.Cys41Ser)
c.359G>C (p.Cys120Ser)
c.848G>C (p.Cys283Ser)
c.932G>C (p.Cys311Ser)
c.695G>C (p.Cys232Ser)
c.107+105G>C (n.107+105G>C)
n.979G>C
2g.232790851G>TCA351011271GIGYF2c.866G>T (p.Cys289Phe)
c.212G>T (p.Cys71Phe)
c.347G>T (p.Cys116Phe)
c.122G>T (p.Cys41Phe)
c.359G>T (p.Cys120Phe)
c.848G>T (p.Cys283Phe)
c.932G>T (p.Cys311Phe)
c.695G>T (p.Cys232Phe)
c.107+105G>T (n.107+105G>T)
n.979G>T
2g.232790852C>ACA351011280GIGYF2c.867C>A (p.Cys289Ter)
c.213C>A (p.Cys71Ter)
c.348C>A (p.Cys116Ter)
c.123C>A (p.Cys41Ter)
c.360C>A (p.Cys120Ter)
c.849C>A (p.Cys283Ter)
c.933C>A (p.Cys311Ter)
c.696C>A (p.Cys232Ter)
c.107+106C>A (n.107+106C>A)
n.980C>A
2g.232790852C>GCA351011277GIGYF2c.867C>G (p.Cys289Trp)
c.213C>G (p.Cys71Trp)
c.348C>G (p.Cys116Trp)
c.123C>G (p.Cys41Trp)
c.360C>G (p.Cys120Trp)
c.849C>G (p.Cys283Trp)
c.933C>G (p.Cys311Trp)
c.696C>G (p.Cys232Trp)
c.107+106C>G (n.107+106C>G)
n.980C>G
2g.232790852C>TCA431807977GIGYF2c.867C>T (p.Cys289=)
c.213C>T (p.Cys71=)
c.348C>T (p.Cys116=)
c.123C>T (p.Cys41=)
c.360C>T (p.Cys120=)
c.849C>T (p.Cys283=)
c.933C>T (p.Cys311=)
c.696C>T (p.Cys232=)
c.107+106C>T (n.107+106C>T)
n.980C>T
2g.232790853T>ACA351011282GIGYF2c.868T>A (p.Leu290Ile)
c.214T>A (p.Leu72Ile)
c.349T>A (p.Leu117Ile)
c.124T>A (p.Leu42Ile)
c.361T>A (p.Leu121Ile)
c.850T>A (p.Leu284Ile)
c.934T>A (p.Leu312Ile)
c.697T>A (p.Leu233Ile)
c.107+107T>A (n.107+107T>A)
n.981T>A
2g.232790853T>CCA431807980GIGYF2c.868T>C (p.Leu290=)
c.214T>C (p.Leu72=)
c.349T>C (p.Leu117=)
c.124T>C (p.Leu42=)
c.361T>C (p.Leu121=)
c.850T>C (p.Leu284=)
c.934T>C (p.Leu312=)
c.697T>C (p.Leu233=)
c.107+107T>C (n.107+107T>C)
n.981T>C
2g.232790853T>GCA351011284GIGYF2c.868T>G (p.Leu290Val)
c.214T>G (p.Leu72Val)
c.349T>G (p.Leu117Val)
c.124T>G (p.Leu42Val)
c.361T>G (p.Leu121Val)
c.850T>G (p.Leu284Val)
c.934T>G (p.Leu312Val)
c.697T>G (p.Leu233Val)
c.107+107T>G (n.107+107T>G)
n.981T>G
2g.232790854T>ACA351011287GIGYF2c.869T>A (p.Leu290Ter)
c.215T>A (p.Leu72Ter)
c.350T>A (p.Leu117Ter)
c.125T>A (p.Leu42Ter)
c.362T>A (p.Leu121Ter)
c.851T>A (p.Leu284Ter)
c.935T>A (p.Leu312Ter)
c.698T>A (p.Leu233Ter)
c.107+108T>A (n.107+108T>A)
n.982T>A
2g.232790854T>CCA351011289GIGYF2c.869T>C (p.Leu290Ser)
c.215T>C (p.Leu72Ser)
c.350T>C (p.Leu117Ser)
c.125T>C (p.Leu42Ser)
c.362T>C (p.Leu121Ser)
c.851T>C (p.Leu284Ser)
c.935T>C (p.Leu312Ser)
c.698T>C (p.Leu233Ser)
c.107+108T>C (n.107+108T>C)
n.982T>C
2g.232790854T>GCA351011291GIGYF2c.869T>G (p.Leu290Ter)
c.215T>G (p.Leu72Ter)
c.350T>G (p.Leu117Ter)
c.125T>G (p.Leu42Ter)
c.362T>G (p.Leu121Ter)
c.851T>G (p.Leu284Ter)
c.935T>G (p.Leu312Ter)
c.698T>G (p.Leu233Ter)
c.107+108T>G (n.107+108T>G)
n.982T>G
2g.232790855A>CCA351011293GIGYF2c.870A>C (p.Leu290Phe)
c.216A>C (p.Leu72Phe)
c.351A>C (p.Leu117Phe)
c.126A>C (p.Leu42Phe)
c.363A>C (p.Leu121Phe)
c.852A>C (p.Leu284Phe)
c.936A>C (p.Leu312Phe)
c.699A>C (p.Leu233Phe)
c.107+109A>C (n.107+109A>C)
n.983A>C
 gnomAD v4
2g.232790855A>GCA431807985GIGYF2c.870A>G (p.Leu290=)
c.216A>G (p.Leu72=)
c.351A>G (p.Leu117=)
c.126A>G (p.Leu42=)
c.363A>G (p.Leu121=)
c.852A>G (p.Leu284=)
c.936A>G (p.Leu312=)
c.699A>G (p.Leu233=)
c.107+109A>G (n.107+109A>G)
n.983A>G
2g.232790855A>TCA351011294GIGYF2c.870A>T (p.Leu290Phe)
c.216A>T (p.Leu72Phe)
c.351A>T (p.Leu117Phe)
c.126A>T (p.Leu42Phe)
c.363A>T (p.Leu121Phe)
c.852A>T (p.Leu284Phe)
c.936A>T (p.Leu312Phe)
c.699A>T (p.Leu233Phe)
c.107+109A>T (n.107+109A>T)
n.983A>T
2g.232790856G>ACA351011296GIGYF2c.871G>A (p.Glu291Lys)
c.217G>A (p.Glu73Lys)
c.352G>A (p.Glu118Lys)
c.127G>A (p.Glu43Lys)
c.364G>A (p.Glu122Lys)
c.853G>A (p.Glu285Lys)
c.937G>A (p.Glu313Lys)
c.700G>A (p.Glu234Lys)
c.107+110G>A (n.107+110G>A)
n.984G>A
2g.232790856G>CCA351011299GIGYF2c.871G>C (p.Glu291Gln)
c.217G>C (p.Glu73Gln)
c.352G>C (p.Glu118Gln)
c.127G>C (p.Glu43Gln)
c.364G>C (p.Glu122Gln)
c.853G>C (p.Glu285Gln)
c.937G>C (p.Glu313Gln)
c.700G>C (p.Glu234Gln)
c.107+110G>C (n.107+110G>C)
n.984G>C
2g.232790856G>TCA351011301GIGYF2c.871G>T (p.Glu291Ter)
c.217G>T (p.Glu73Ter)
c.352G>T (p.Glu118Ter)
c.127G>T (p.Glu43Ter)
c.364G>T (p.Glu122Ter)
c.853G>T (p.Glu285Ter)
c.937G>T (p.Glu313Ter)
c.700G>T (p.Glu234Ter)
c.107+110G>T (n.107+110G>T)
n.984G>T
2g.232790857A>CCA351011303GIGYF2c.872A>C (p.Glu291Ala)
c.218A>C (p.Glu73Ala)
c.353A>C (p.Glu118Ala)
c.128A>C (p.Glu43Ala)
c.365A>C (p.Glu122Ala)
c.854A>C (p.Glu285Ala)
c.938A>C (p.Glu313Ala)
c.701A>C (p.Glu234Ala)
c.107+111A>C (n.107+111A>C)
n.985A>C
2g.232790857A>GCA351011305GIGYF2c.872A>G (p.Glu291Gly)
c.218A>G (p.Glu73Gly)
c.353A>G (p.Glu118Gly)
c.128A>G (p.Glu43Gly)
c.365A>G (p.Glu122Gly)
c.854A>G (p.Glu285Gly)
c.938A>G (p.Glu313Gly)
c.701A>G (p.Glu234Gly)
c.107+111A>G (n.107+111A>G)
n.985A>G
2g.232790857A>TCA351011307GIGYF2c.872A>T (p.Glu291Val)
c.218A>T (p.Glu73Val)
c.353A>T (p.Glu118Val)
c.128A>T (p.Glu43Val)
c.365A>T (p.Glu122Val)
c.854A>T (p.Glu285Val)
c.938A>T (p.Glu313Val)
c.701A>T (p.Glu234Val)
c.107+111A>T (n.107+111A>T)
n.985A>T
2g.232790858G>ACA431807999GIGYF2c.873G>A (p.Glu291=)
c.219G>A (p.Glu73=)
c.354G>A (p.Glu118=)
c.129G>A (p.Glu43=)
c.366G>A (p.Glu122=)
c.855G>A (p.Glu285=)
c.939G>A (p.Glu313=)
c.702G>A (p.Glu234=)
c.107+112G>A (n.107+112G>A)
n.986G>A
2g.232790858G>CCA351011309GIGYF2c.873G>C (p.Glu291Asp)
c.219G>C (p.Glu73Asp)
c.354G>C (p.Glu118Asp)
c.129G>C (p.Glu43Asp)
c.366G>C (p.Glu122Asp)
c.855G>C (p.Glu285Asp)
c.939G>C (p.Glu313Asp)
c.702G>C (p.Glu234Asp)
c.107+112G>C (n.107+112G>C)
n.986G>C
2g.232790858G>TCA351011311GIGYF2c.873G>T (p.Glu291Asp)
c.219G>T (p.Glu73Asp)
c.354G>T (p.Glu118Asp)
c.129G>T (p.Glu43Asp)
c.366G>T (p.Glu122Asp)
c.855G>T (p.Glu285Asp)
c.939G>T (p.Glu313Asp)
c.702G>T (p.Glu234Asp)
c.107+112G>T (n.107+112G>T)
n.986G>T
2g.232790859G>ACA351011313GIGYF2c.874G>A (p.Asp292Asn)
c.220G>A (p.Asp74Asn)
c.355G>A (p.Asp119Asn)
c.130G>A (p.Asp44Asn)
c.367G>A (p.Asp123Asn)
c.856G>A (p.Asp286Asn)
c.940G>A (p.Asp314Asn)
c.703G>A (p.Asp235Asn)
c.107+113G>A (n.107+113G>A)
n.987G>A
 dbSNP
2g.232790859G>CCA351011315GIGYF2c.874G>C (p.Asp292His)
c.220G>C (p.Asp74His)
c.355G>C (p.Asp119His)
c.130G>C (p.Asp44His)
c.367G>C (p.Asp123His)
c.856G>C (p.Asp286His)
c.940G>C (p.Asp314His)
c.703G>C (p.Asp235His)
c.107+113G>C (n.107+113G>C)
n.987G>C
2g.232790859G=CA1335433329GIGYF2c.874G= (p.Asp292=)
c.220G= (p.Asp74=)
c.355G= (p.Asp119=)
c.130G= (p.Asp44=)
c.367G= (p.Asp123=)
c.856G= (p.Asp286=)
c.940G= (p.Asp314=)
c.703G= (p.Asp235=)
c.107+113G= (n.107+113G=)
n.987G=
2g.232790859G>TCA351011317GIGYF2c.874G>T (p.Asp292Tyr)
c.220G>T (p.Asp74Tyr)
c.355G>T (p.Asp119Tyr)
c.130G>T (p.Asp44Tyr)
c.367G>T (p.Asp123Tyr)
c.856G>T (p.Asp286Tyr)
c.940G>T (p.Asp314Tyr)
c.703G>T (p.Asp235Tyr)
c.107+113G>T (n.107+113G>T)
n.987G>T
2g.232790860A>CCA351011319GIGYF2c.875A>C (p.Asp292Ala)
c.221A>C (p.Asp74Ala)
c.356A>C (p.Asp119Ala)
c.131A>C (p.Asp44Ala)
c.368A>C (p.Asp123Ala)
c.857A>C (p.Asp286Ala)
c.941A>C (p.Asp314Ala)
c.704A>C (p.Asp235Ala)
c.107+114A>C (n.107+114A>C)
n.988A>C
2g.232790860A>GCA351011321GIGYF2c.875A>G (p.Asp292Gly)
c.221A>G (p.Asp74Gly)
c.356A>G (p.Asp119Gly)
c.131A>G (p.Asp44Gly)
c.368A>G (p.Asp123Gly)
c.857A>G (p.Asp286Gly)
c.941A>G (p.Asp314Gly)
c.704A>G (p.Asp235Gly)
c.107+114A>G (n.107+114A>G)
n.988A>G
2g.232790860A>TCA351011323GIGYF2c.875A>T (p.Asp292Val)
c.221A>T (p.Asp74Val)
c.356A>T (p.Asp119Val)
c.131A>T (p.Asp44Val)
c.368A>T (p.Asp123Val)
c.857A>T (p.Asp286Val)
c.941A>T (p.Asp314Val)
c.704A>T (p.Asp235Val)
c.107+114A>T (n.107+114A>T)
n.988A>T
 gnomAD v4
2g.232790861T>ACA351011325GIGYF2c.876T>A (p.Asp292Glu)
c.222T>A (p.Asp74Glu)
c.357T>A (p.Asp119Glu)
c.132T>A (p.Asp44Glu)
c.369T>A (p.Asp123Glu)
c.858T>A (p.Asp286Glu)
c.942T>A (p.Asp314Glu)
c.705T>A (p.Asp235Glu)
c.107+115T>A (n.107+115T>A)
n.989T>A
2g.232790861T>CCA66994375GIGYF2c.876T>C (p.Asp292=)
c.222T>C (p.Asp74=)
c.357T>C (p.Asp119=)
c.132T>C (p.Asp44=)
c.369T>C (p.Asp123=)
c.858T>C (p.Asp286=)
c.942T>C (p.Asp314=)
c.705T>C (p.Asp235=)
c.107+115T>C (n.107+115T>C)
n.989T>C
 dbSNP
2g.232790861T>GCA351011329GIGYF2c.876T>G (p.Asp292Glu)
c.222T>G (p.Asp74Glu)
c.357T>G (p.Asp119Glu)
c.132T>G (p.Asp44Glu)
c.369T>G (p.Asp123Glu)
c.858T>G (p.Asp286Glu)
c.942T>G (p.Asp314Glu)
c.705T>G (p.Asp235Glu)
c.107+115T>G (n.107+115T>G)
n.989T>G
2g.232790861T=CA1335433330GIGYF2c.876T= (p.Asp292=)
c.222T= (p.Asp74=)
c.357T= (p.Asp119=)
c.132T= (p.Asp44=)
c.369T= (p.Asp123=)
c.858T= (p.Asp286=)
c.942T= (p.Asp314=)
c.705T= (p.Asp235=)
c.107+115T= (n.107+115T=)
n.989T=
2g.232790862G>ACA351011330GIGYF2c.877G>A (p.Ala293Thr)
c.223G>A (p.Ala75Thr)
c.358G>A (p.Ala120Thr)
c.133G>A (p.Ala45Thr)
c.370G>A (p.Ala124Thr)
c.859G>A (p.Ala287Thr)
c.943G>A (p.Ala315Thr)
c.706G>A (p.Ala236Thr)
c.107+116G>A (n.107+116G>A)
n.990G>A
2g.232790862G>CCA351011332GIGYF2c.877G>C (p.Ala293Pro)
c.223G>C (p.Ala75Pro)
c.358G>C (p.Ala120Pro)
c.133G>C (p.Ala45Pro)
c.370G>C (p.Ala124Pro)
c.859G>C (p.Ala287Pro)
c.943G>C (p.Ala315Pro)
c.706G>C (p.Ala236Pro)
c.107+116G>C (n.107+116G>C)
n.990G>C
2g.232790862G>TCA351011334GIGYF2c.877G>T (p.Ala293Ser)
c.223G>T (p.Ala75Ser)
c.358G>T (p.Ala120Ser)
c.133G>T (p.Ala45Ser)
c.370G>T (p.Ala124Ser)
c.859G>T (p.Ala287Ser)
c.943G>T (p.Ala315Ser)
c.706G>T (p.Ala236Ser)
c.107+116G>T (n.107+116G>T)
n.990G>T
2g.232790863C>ACA351011338GIGYF2c.878C>A (p.Ala293Asp)
c.224C>A (p.Ala75Asp)
c.359C>A (p.Ala120Asp)
c.134C>A (p.Ala45Asp)
c.371C>A (p.Ala124Asp)
c.860C>A (p.Ala287Asp)
c.944C>A (p.Ala315Asp)
c.707C>A (p.Ala236Asp)
c.107+117C>A (n.107+117C>A)
n.991C>A
2g.232790863C>GCA351011340GIGYF2c.878C>G (p.Ala293Gly)
c.224C>G (p.Ala75Gly)
c.359C>G (p.Ala120Gly)
c.134C>G (p.Ala45Gly)
c.371C>G (p.Ala124Gly)
c.860C>G (p.Ala287Gly)
c.944C>G (p.Ala315Gly)
c.707C>G (p.Ala236Gly)
c.107+117C>G (n.107+117C>G)
n.991C>G
2g.232790863C>TCA351011337GIGYF2c.878C>T (p.Ala293Val)
c.224C>T (p.Ala75Val)
c.359C>T (p.Ala120Val)
c.134C>T (p.Ala45Val)
c.371C>T (p.Ala124Val)
c.860C>T (p.Ala287Val)
c.944C>T (p.Ala315Val)
c.707C>T (p.Ala236Val)
c.107+117C>T (n.107+117C>T)
n.991C>T
2g.232790864T>ACA431808021GIGYF2c.879T>A (p.Ala293=)
c.225T>A (p.Ala75=)
c.360T>A (p.Ala120=)
c.135T>A (p.Ala45=)
c.372T>A (p.Ala124=)
c.861T>A (p.Ala287=)
c.945T>A (p.Ala315=)
c.708T>A (p.Ala236=)
c.107+118T>A (n.107+118T>A)
n.992T>A
2g.232790864T>CCA431808023GIGYF2c.879T>C (p.Ala293=)
c.225T>C (p.Ala75=)
c.360T>C (p.Ala120=)
c.135T>C (p.Ala45=)
c.372T>C (p.Ala124=)
c.861T>C (p.Ala287=)
c.945T>C (p.Ala315=)
c.708T>C (p.Ala236=)
c.107+118T>C (n.107+118T>C)
n.992T>C
 dbSNP gnomAD v3 gnomAD v4
2g.232790864T>GCA66994376GIGYF2c.879T>G (p.Ala293=)
c.225T>G (p.Ala75=)
c.360T>G (p.Ala120=)
c.135T>G (p.Ala45=)
c.372T>G (p.Ala124=)
c.861T>G (p.Ala287=)
c.945T>G (p.Ala315=)
c.708T>G (p.Ala236=)
c.107+118T>G (n.107+118T>G)
n.992T>G
 dbSNP
2g.232790864T=CA1335433331GIGYF2c.879T= (p.Ala293=)
c.225T= (p.Ala75=)
c.360T= (p.Ala120=)
c.135T= (p.Ala45=)
c.372T= (p.Ala124=)
c.861T= (p.Ala287=)
c.945T= (p.Ala315=)
c.708T= (p.Ala236=)
c.107+118T= (n.107+118T=)
n.992T=
2g.232790865G>ACA351011343GIGYF2c.880G>A (p.Glu294Lys)
c.226G>A (p.Glu76Lys)
c.361G>A (p.Glu121Lys)
c.136G>A (p.Glu46Lys)
c.373G>A (p.Glu125Lys)
c.862G>A (p.Glu288Lys)
c.946G>A (p.Glu316Lys)
c.709G>A (p.Glu237Lys)
c.107+119G>A (n.107+119G>A)
n.993G>A
2g.232790865G>CCA351011347GIGYF2c.880G>C (p.Glu294Gln)
c.226G>C (p.Glu76Gln)
c.361G>C (p.Glu121Gln)
c.136G>C (p.Glu46Gln)
c.373G>C (p.Glu125Gln)
c.862G>C (p.Glu288Gln)
c.946G>C (p.Glu316Gln)
c.709G>C (p.Glu237Gln)
c.107+119G>C (n.107+119G>C)
n.993G>C
2g.232790865G>TCA351011345GIGYF2c.880G>T (p.Glu294Ter)
c.226G>T (p.Glu76Ter)
c.361G>T (p.Glu121Ter)
c.136G>T (p.Glu46Ter)
c.373G>T (p.Glu125Ter)
c.862G>T (p.Glu288Ter)
c.946G>T (p.Glu316Ter)
c.709G>T (p.Glu237Ter)
c.107+119G>T (n.107+119G>T)
n.993G>T
2g.232790866A>CCA351011348GIGYF2c.881A>C (p.Glu294Ala)
c.227A>C (p.Glu76Ala)
c.362A>C (p.Glu121Ala)
c.137A>C (p.Glu46Ala)
c.374A>C (p.Glu125Ala)
c.863A>C (p.Glu288Ala)
c.947A>C (p.Glu316Ala)
c.710A>C (p.Glu237Ala)
c.107+120A>C (n.107+120A>C)
n.994A>C
2g.232790866A>GCA351011350GIGYF2c.881A>G (p.Glu294Gly)
c.227A>G (p.Glu76Gly)
c.362A>G (p.Glu121Gly)
c.137A>G (p.Glu46Gly)
c.374A>G (p.Glu125Gly)
c.863A>G (p.Glu288Gly)
c.947A>G (p.Glu316Gly)
c.710A>G (p.Glu237Gly)
c.107+120A>G (n.107+120A>G)
n.994A>G
2g.232790866A>TCA351011352GIGYF2c.881A>T (p.Glu294Val)
c.227A>T (p.Glu76Val)
c.362A>T (p.Glu121Val)
c.137A>T (p.Glu46Val)
c.374A>T (p.Glu125Val)
c.863A>T (p.Glu288Val)
c.947A>T (p.Glu316Val)
c.710A>T (p.Glu237Val)
c.107+120A>T (n.107+120A>T)
n.994A>T
2g.232790867A=CA1335433332GIGYF2c.882A= (p.Glu294=)
c.228A= (p.Glu76=)
c.363A= (p.Glu121=)
c.138A= (p.Glu46=)
c.375A= (p.Glu125=)
c.864A= (p.Glu288=)
c.948A= (p.Glu316=)
c.711A= (p.Glu237=)
c.107+121A= (n.107+121A=)
n.995A=
2g.232790867A>CCA351011354GIGYF2c.882A>C (p.Glu294Asp)
c.228A>C (p.Glu76Asp)
c.363A>C (p.Glu121Asp)
c.138A>C (p.Glu46Asp)
c.375A>C (p.Glu125Asp)
c.864A>C (p.Glu288Asp)
c.948A>C (p.Glu316Asp)
c.711A>C (p.Glu237Asp)
c.107+121A>C (n.107+121A>C)
n.995A>C
2g.232790867A>GCA2170213GIGYF2c.882A>G (p.Glu294=)
c.228A>G (p.Glu76=)
c.363A>G (p.Glu121=)
c.138A>G (p.Glu46=)
c.375A>G (p.Glu125=)
c.864A>G (p.Glu288=)
c.948A>G (p.Glu316=)
c.711A>G (p.Glu237=)
c.107+121A>G (n.107+121A>G)
n.995A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790867A>TCA351011358GIGYF2c.882A>T (p.Glu294Asp)
c.228A>T (p.Glu76Asp)
c.363A>T (p.Glu121Asp)
c.138A>T (p.Glu46Asp)
c.375A>T (p.Glu125Asp)
c.864A>T (p.Glu288Asp)
c.948A>T (p.Glu316Asp)
c.711A>T (p.Glu237Asp)
c.107+121A>T (n.107+121A>T)
n.995A>T
2g.232790868G>ACA351011359GIGYF2c.883G>A (p.Glu295Lys)
c.229G>A (p.Glu77Lys)
c.364G>A (p.Glu122Lys)
c.139G>A (p.Glu47Lys)
c.376G>A (p.Glu126Lys)
c.865G>A (p.Glu289Lys)
c.949G>A (p.Glu317Lys)
c.712G>A (p.Glu238Lys)
c.107+122G>A (n.107+122G>A)
n.996G>A
2g.232790868G>CCA2170214GIGYF2c.883G>C (p.Glu295Gln)
c.229G>C (p.Glu77Gln)
c.364G>C (p.Glu122Gln)
c.139G>C (p.Glu47Gln)
c.376G>C (p.Glu126Gln)
c.865G>C (p.Glu289Gln)
c.949G>C (p.Glu317Gln)
c.712G>C (p.Glu238Gln)
c.107+122G>C (n.107+122G>C)
n.996G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790868G=CA1335433333GIGYF2c.883G= (p.Glu295=)
c.229G= (p.Glu77=)
c.364G= (p.Glu122=)
c.139G= (p.Glu47=)
c.376G= (p.Glu126=)
c.865G= (p.Glu289=)
c.949G= (p.Glu317=)
c.712G= (p.Glu238=)
c.107+122G= (n.107+122G=)
n.996G=
2g.232790868G>TCA351011364GIGYF2c.883G>T (p.Glu295Ter)
c.229G>T (p.Glu77Ter)
c.364G>T (p.Glu122Ter)
c.139G>T (p.Glu47Ter)
c.376G>T (p.Glu126Ter)
c.865G>T (p.Glu289Ter)
c.949G>T (p.Glu317Ter)
c.712G>T (p.Glu238Ter)
c.107+122G>T (n.107+122G>T)
n.996G>T
2g.232790869A>CCA351011366GIGYF2c.884A>C (p.Glu295Ala)
c.230A>C (p.Glu77Ala)
c.365A>C (p.Glu122Ala)
c.140A>C (p.Glu47Ala)
c.377A>C (p.Glu126Ala)
c.866A>C (p.Glu289Ala)
c.950A>C (p.Glu317Ala)
c.713A>C (p.Glu238Ala)
c.107+123A>C (n.107+123A>C)
n.997A>C
2g.232790869A>GCA351011368GIGYF2c.884A>G (p.Glu295Gly)
c.230A>G (p.Glu77Gly)
c.365A>G (p.Glu122Gly)
c.140A>G (p.Glu47Gly)
c.377A>G (p.Glu126Gly)
c.866A>G (p.Glu289Gly)
c.950A>G (p.Glu317Gly)
c.713A>G (p.Glu238Gly)
c.107+123A>G (n.107+123A>G)
n.997A>G
2g.232790869A>TCA351011370GIGYF2c.884A>T (p.Glu295Val)
c.230A>T (p.Glu77Val)
c.365A>T (p.Glu122Val)
c.140A>T (p.Glu47Val)
c.377A>T (p.Glu126Val)
c.866A>T (p.Glu289Val)
c.950A>T (p.Glu317Val)
c.713A>T (p.Glu238Val)
c.107+123A>T (n.107+123A>T)
n.997A>T
2g.232790870A>CCA351011375GIGYF2c.885A>C (p.Glu295Asp)
c.231A>C (p.Glu77Asp)
c.366A>C (p.Glu122Asp)
c.141A>C (p.Glu47Asp)
c.378A>C (p.Glu126Asp)
c.867A>C (p.Glu289Asp)
c.951A>C (p.Glu317Asp)
c.714A>C (p.Glu238Asp)
c.107+124A>C (n.107+124A>C)
n.998A>C
2g.232790870A>GCA431808049GIGYF2c.885A>G (p.Glu295=)
c.231A>G (p.Glu77=)
c.366A>G (p.Glu122=)
c.141A>G (p.Glu47=)
c.378A>G (p.Glu126=)
c.867A>G (p.Glu289=)
c.951A>G (p.Glu317=)
c.714A>G (p.Glu238=)
c.107+124A>G (n.107+124A>G)
n.998A>G
 gnomAD v4
2g.232790870A>TCA351011374GIGYF2c.885A>T (p.Glu295Asp)
c.231A>T (p.Glu77Asp)
c.366A>T (p.Glu122Asp)
c.141A>T (p.Glu47Asp)
c.378A>T (p.Glu126Asp)
c.867A>T (p.Glu289Asp)
c.951A>T (p.Glu317Asp)
c.714A>T (p.Glu238Asp)
c.107+124A>T (n.107+124A>T)
n.998A>T
2g.232790871G>ACA351011378GIGYF2c.886G>A (p.Glu296Lys)
c.232G>A (p.Glu78Lys)
c.367G>A (p.Glu123Lys)
c.142G>A (p.Glu48Lys)
c.379G>A (p.Glu127Lys)
c.868G>A (p.Glu290Lys)
c.952G>A (p.Glu318Lys)
c.715G>A (p.Glu239Lys)
c.107+125G>A (n.107+125G>A)
n.999G>A
2g.232790871G>CCA351011380GIGYF2c.886G>C (p.Glu296Gln)
c.232G>C (p.Glu78Gln)
c.367G>C (p.Glu123Gln)
c.142G>C (p.Glu48Gln)
c.379G>C (p.Glu127Gln)
c.868G>C (p.Glu290Gln)
c.952G>C (p.Glu318Gln)
c.715G>C (p.Glu239Gln)
c.107+125G>C (n.107+125G>C)
n.999G>C
2g.232790871G=CA1335433334GIGYF2c.886G= (p.Glu296=)
c.232G= (p.Glu78=)
c.367G= (p.Glu123=)
c.142G= (p.Glu48=)
c.379G= (p.Glu127=)
c.868G= (p.Glu290=)
c.952G= (p.Glu318=)
c.715G= (p.Glu239=)
c.107+125G= (n.107+125G=)
n.999G=
2g.232790871G>TCA351011382GIGYF2c.886G>T (p.Glu296Ter)
c.232G>T (p.Glu78Ter)
c.367G>T (p.Glu123Ter)
c.142G>T (p.Glu48Ter)
c.379G>T (p.Glu127Ter)
c.868G>T (p.Glu290Ter)
c.952G>T (p.Glu318Ter)
c.715G>T (p.Glu239Ter)
c.107+125G>T (n.107+125G>T)
n.999G>T
2g.232790872A>CCA351011385GIGYF2c.887A>C (p.Glu296Ala)
c.233A>C (p.Glu78Ala)
c.368A>C (p.Glu123Ala)
c.143A>C (p.Glu48Ala)
c.380A>C (p.Glu127Ala)
c.869A>C (p.Glu290Ala)
c.953A>C (p.Glu318Ala)
c.716A>C (p.Glu239Ala)
c.107+126A>C (n.107+126A>C)
n.1000A>C
2g.232790872A>GCA351011387GIGYF2c.887A>G (p.Glu296Gly)
c.233A>G (p.Glu78Gly)
c.368A>G (p.Glu123Gly)
c.143A>G (p.Glu48Gly)
c.380A>G (p.Glu127Gly)
c.869A>G (p.Glu290Gly)
c.953A>G (p.Glu318Gly)
c.716A>G (p.Glu239Gly)
c.107+126A>G (n.107+126A>G)
n.1000A>G
2g.232790872A>TCA351011388GIGYF2c.887A>T (p.Glu296Val)
c.233A>T (p.Glu78Val)
c.368A>T (p.Glu123Val)
c.143A>T (p.Glu48Val)
c.380A>T (p.Glu127Val)
c.869A>T (p.Glu290Val)
c.953A>T (p.Glu318Val)
c.716A>T (p.Glu239Val)
c.107+126A>T (n.107+126A>T)
n.1000A>T
2g.232790874dupCA540310390GIGYF2c.889dup (p.Met297AsnfsTer5)
c.235dup (p.Met79AsnfsTer5)
c.370dup (p.Met124AsnfsTer5)
c.145dup (p.Met49AsnfsTer5)
c.382dup (p.Met128AsnfsTer5)
c.871dup (p.Met291AsnfsTer5)
c.955dup (p.Met319AsnfsTer5)
c.718dup (p.Met240AsnfsTer5)
c.107+128dup (n.107+128dup)
n.1002dup
 dbSNP gnomAD v2
2g.232790873A>CCA351011389GIGYF2c.888A>C (p.Glu296Asp)
c.234A>C (p.Glu78Asp)
c.369A>C (p.Glu123Asp)
c.144A>C (p.Glu48Asp)
c.381A>C (p.Glu127Asp)
c.870A>C (p.Glu290Asp)
c.954A>C (p.Glu318Asp)
c.717A>C (p.Glu239Asp)
c.107+127A>C (n.107+127A>C)
n.1001A>C
2g.232790873A>GCA431808057GIGYF2c.888A>G (p.Glu296=)
c.234A>G (p.Glu78=)
c.369A>G (p.Glu123=)
c.144A>G (p.Glu48=)
c.381A>G (p.Glu127=)
c.870A>G (p.Glu290=)
c.954A>G (p.Glu318=)
c.717A>G (p.Glu239=)
c.107+127A>G (n.107+127A>G)
n.1001A>G
2g.232790873A>TCA351011390GIGYF2c.888A>T (p.Glu296Asp)
c.234A>T (p.Glu78Asp)
c.369A>T (p.Glu123Asp)
c.144A>T (p.Glu48Asp)
c.381A>T (p.Glu127Asp)
c.870A>T (p.Glu290Asp)
c.954A>T (p.Glu318Asp)
c.717A>T (p.Glu239Asp)
c.107+127A>T (n.107+127A>T)
n.1001A>T
2g.232790874A>CCA351011391GIGYF2c.889A>C (p.Met297Leu)
c.235A>C (p.Met79Leu)
c.370A>C (p.Met124Leu)
c.145A>C (p.Met49Leu)
c.382A>C (p.Met128Leu)
c.871A>C (p.Met291Leu)
c.955A>C (p.Met319Leu)
c.718A>C (p.Met240Leu)
c.107+128A>C (n.107+128A>C)
n.1002A>C
2g.232790874A>GCA351011392GIGYF2c.889A>G (p.Met297Val)
c.235A>G (p.Met79Val)
c.370A>G (p.Met124Val)
c.145A>G (p.Met49Val)
c.382A>G (p.Met128Val)
c.871A>G (p.Met291Val)
c.955A>G (p.Met319Val)
c.718A>G (p.Met240Val)
c.107+128A>G (n.107+128A>G)
n.1002A>G
2g.232790874A>TCA351011393GIGYF2c.889A>T (p.Met297Leu)
c.235A>T (p.Met79Leu)
c.370A>T (p.Met124Leu)
c.145A>T (p.Met49Leu)
c.382A>T (p.Met128Leu)
c.871A>T (p.Met291Leu)
c.955A>T (p.Met319Leu)
c.718A>T (p.Met240Leu)
c.107+128A>T (n.107+128A>T)
n.1002A>T
2g.232790875T>ACA351011396GIGYF2c.890T>A (p.Met297Lys)
c.236T>A (p.Met79Lys)
c.371T>A (p.Met124Lys)
c.146T>A (p.Met49Lys)
c.383T>A (p.Met128Lys)
c.872T>A (p.Met291Lys)
c.956T>A (p.Met319Lys)
c.719T>A (p.Met240Lys)
c.107+129T>A (n.107+129T>A)
n.1003T>A
2g.232790875T>CCA351011395GIGYF2c.890T>C (p.Met297Thr)
c.236T>C (p.Met79Thr)
c.371T>C (p.Met124Thr)
c.146T>C (p.Met49Thr)
c.383T>C (p.Met128Thr)
c.872T>C (p.Met291Thr)
c.956T>C (p.Met319Thr)
c.719T>C (p.Met240Thr)
c.107+129T>C (n.107+129T>C)
n.1003T>C
 COSMIC COSMIC COSMIC
2g.232790875T>GCA351011394GIGYF2c.890T>G (p.Met297Arg)
c.236T>G (p.Met79Arg)
c.371T>G (p.Met124Arg)
c.146T>G (p.Met49Arg)
c.383T>G (p.Met128Arg)
c.872T>G (p.Met291Arg)
c.956T>G (p.Met319Arg)
c.719T>G (p.Met240Arg)
c.107+129T>G (n.107+129T>G)
n.1003T>G
2g.232790875T=CA1335433335GIGYF2c.890T= (p.Met297=)
c.236T= (p.Met79=)
c.371T= (p.Met124=)
c.146T= (p.Met49=)
c.383T= (p.Met128=)
c.872T= (p.Met291=)
c.956T= (p.Met319=)
c.719T= (p.Met240=)
c.107+129T= (n.107+129T=)
n.1003T=
2g.232790875_232790876insCACA913090032GIGYF2c.890_891insCA (p.Met297IlefsTer14)
c.236_237insCA (p.Met79IlefsTer14)
c.371_372insCA (p.Met124IlefsTer14)
c.146_147insCA (p.Met49IlefsTer14)
c.383_384insCA (p.Met128IlefsTer14)
c.872_873insCA (p.Met291IlefsTer14)
c.956_957insCA (p.Met319IlefsTer14)
c.719_720insCA (p.Met240IlefsTer14)
c.107+129_107+130insCA (n.107+129_107+130insCA)
n.1003_1004insCA
2g.232790875_232790876insCAGGAATAGAAAATAAACA540310391GIGYF2c.890_891insCAGGAATAGAAAATAAA (p.Met297IlefsTer6)
c.236_237insCAGGAATAGAAAATAAA (p.Met79IlefsTer6)
c.371_372insCAGGAATAGAAAATAAA (p.Met124IlefsTer6)
c.146_147insCAGGAATAGAAAATAAA (p.Met49IlefsTer6)
c.383_384insCAGGAATAGAAAATAAA (p.Met128IlefsTer6)
c.872_873insCAGGAATAGAAAATAAA (p.Met291IlefsTer6)
c.956_957insCAGGAATAGAAAATAAA (p.Met319IlefsTer6)
c.719_720insCAGGAATAGAAAATAAA (p.Met240IlefsTer6)
c.107+129_107+130insCAGGAATAGAAAATAAA (n.107+129_107+130insCAGGAATAGAAAATAAA)
n.1003_1004insCAGGAATAGAAAATAAA
 dbSNP gnomAD v2
2g.232790876G>ACA351011397GIGYF2c.891G>A (p.Met297Ile)
c.237G>A (p.Met79Ile)
c.372G>A (p.Met124Ile)
c.147G>A (p.Met49Ile)
c.384G>A (p.Met128Ile)
c.873G>A (p.Met291Ile)
c.957G>A (p.Met319Ile)
c.720G>A (p.Met240Ile)
c.107+130G>A (n.107+130G>A)
n.1004G>A
2g.232790876G>CCA351011398GIGYF2c.891G>C (p.Met297Ile)
c.237G>C (p.Met79Ile)
c.372G>C (p.Met124Ile)
c.147G>C (p.Met49Ile)
c.384G>C (p.Met128Ile)
c.873G>C (p.Met291Ile)
c.957G>C (p.Met319Ile)
c.720G>C (p.Met240Ile)
c.107+130G>C (n.107+130G>C)
n.1004G>C
2g.232790876G>TCA351011399GIGYF2c.891G>T (p.Met297Ile)
c.237G>T (p.Met79Ile)
c.372G>T (p.Met124Ile)
c.147G>T (p.Met49Ile)
c.384G>T (p.Met128Ile)
c.873G>T (p.Met291Ile)
c.957G>T (p.Met319Ile)
c.720G>T (p.Met240Ile)
c.107+130G>T (n.107+130G>T)
n.1004G>T
2g.232790877G>ACA351011400GIGYF2c.892G>A (p.Gly298Ser)
c.238G>A (p.Gly80Ser)
c.373G>A (p.Gly125Ser)
c.148G>A (p.Gly50Ser)
c.385G>A (p.Gly129Ser)
c.874G>A (p.Gly292Ser)
c.958G>A (p.Gly320Ser)
c.721G>A (p.Gly241Ser)
c.107+131G>A (n.107+131G>A)
n.1005G>A
2g.232790877G>CCA351011401GIGYF2c.892G>C (p.Gly298Arg)
c.238G>C (p.Gly80Arg)
c.373G>C (p.Gly125Arg)
c.148G>C (p.Gly50Arg)
c.385G>C (p.Gly129Arg)
c.874G>C (p.Gly292Arg)
c.958G>C (p.Gly320Arg)
c.721G>C (p.Gly241Arg)
c.107+131G>C (n.107+131G>C)
n.1005G>C
2g.232790877G>TCA351011402GIGYF2c.892G>T (p.Gly298Cys)
c.238G>T (p.Gly80Cys)
c.373G>T (p.Gly125Cys)
c.148G>T (p.Gly50Cys)
c.385G>T (p.Gly129Cys)
c.874G>T (p.Gly292Cys)
c.958G>T (p.Gly320Cys)
c.721G>T (p.Gly241Cys)
c.107+131G>T (n.107+131G>T)
n.1005G>T
2g.232790878G>ACA351011403GIGYF2c.893G>A (p.Gly298Asp)
c.239G>A (p.Gly80Asp)
c.374G>A (p.Gly125Asp)
c.149G>A (p.Gly50Asp)
c.386G>A (p.Gly129Asp)
c.875G>A (p.Gly292Asp)
c.959G>A (p.Gly320Asp)
c.722G>A (p.Gly241Asp)
c.107+132G>A (n.107+132G>A)
n.1006G>A
2g.232790878G>CCA351011404GIGYF2c.893G>C (p.Gly298Ala)
c.239G>C (p.Gly80Ala)
c.374G>C (p.Gly125Ala)
c.149G>C (p.Gly50Ala)
c.386G>C (p.Gly129Ala)
c.875G>C (p.Gly292Ala)
c.959G>C (p.Gly320Ala)
c.722G>C (p.Gly241Ala)
c.107+132G>C (n.107+132G>C)
n.1006G>C
2g.232790878G>TCA351011405GIGYF2c.893G>T (p.Gly298Val)
c.239G>T (p.Gly80Val)
c.374G>T (p.Gly125Val)
c.149G>T (p.Gly50Val)
c.386G>T (p.Gly129Val)
c.875G>T (p.Gly292Val)
c.959G>T (p.Gly320Val)
c.722G>T (p.Gly241Val)
c.107+132G>T (n.107+132G>T)
n.1006G>T
2g.232790879T>ACA431808077GIGYF2c.894T>A (p.Gly298=)
c.240T>A (p.Gly80=)
c.375T>A (p.Gly125=)
c.150T>A (p.Gly50=)
c.387T>A (p.Gly129=)
c.876T>A (p.Gly292=)
c.960T>A (p.Gly320=)
c.723T>A (p.Gly241=)
c.108-133T>A (n.108-133T>A)
n.1007T>A
2g.232790879T>CCA431808075GIGYF2c.894T>C (p.Gly298=)
c.240T>C (p.Gly80=)
c.375T>C (p.Gly125=)
c.150T>C (p.Gly50=)
c.387T>C (p.Gly129=)
c.876T>C (p.Gly292=)
c.960T>C (p.Gly320=)
c.723T>C (p.Gly241=)
c.108-133T>C (n.108-133T>C)
n.1007T>C
 dbSNP
2g.232790879T>GCA431808073GIGYF2c.894T>G (p.Gly298=)
c.240T>G (p.Gly80=)
c.375T>G (p.Gly125=)
c.150T>G (p.Gly50=)
c.387T>G (p.Gly129=)
c.876T>G (p.Gly292=)
c.960T>G (p.Gly320=)
c.723T>G (p.Gly241=)
c.108-133T>G (n.108-133T>G)
n.1007T>G
 dbSNP
2g.232790879T=CA1335433336GIGYF2c.894T= (p.Gly298=)
c.240T= (p.Gly80=)
c.375T= (p.Gly125=)
c.150T= (p.Gly50=)
c.387T= (p.Gly129=)
c.876T= (p.Gly292=)
c.960T= (p.Gly320=)
c.723T= (p.Gly241=)
c.108-133T= (n.108-133T=)
n.1007T=
2g.232790880A=CA1335433337GIGYF2c.895A= (p.Thr299=)
c.241A= (p.Thr81=)
c.376A= (p.Thr126=)
c.151A= (p.Thr51=)
c.388A= (p.Thr130=)
c.877A= (p.Thr293=)
c.961A= (p.Thr321=)
c.724A= (p.Thr242=)
c.108-132A= (n.108-132A=)
n.1008A=
2g.232790880A>CCA351011406GIGYF2c.895A>C (p.Thr299Pro)
c.241A>C (p.Thr81Pro)
c.376A>C (p.Thr126Pro)
c.151A>C (p.Thr51Pro)
c.388A>C (p.Thr130Pro)
c.877A>C (p.Thr293Pro)
c.961A>C (p.Thr321Pro)
c.724A>C (p.Thr242Pro)
c.108-132A>C (n.108-132A>C)
n.1008A>C
2g.232790880A>GCA66994377GIGYF2c.895A>G (p.Thr299Ala)
c.241A>G (p.Thr81Ala)
c.376A>G (p.Thr126Ala)
c.151A>G (p.Thr51Ala)
c.388A>G (p.Thr130Ala)
c.877A>G (p.Thr293Ala)
c.961A>G (p.Thr321Ala)
c.724A>G (p.Thr242Ala)
c.108-132A>G (n.108-132A>G)
n.1008A>G
 dbSNP
2g.232790880A>TCA351011407GIGYF2c.895A>T (p.Thr299Ser)
c.241A>T (p.Thr81Ser)
c.376A>T (p.Thr126Ser)
c.151A>T (p.Thr51Ser)
c.388A>T (p.Thr130Ser)
c.877A>T (p.Thr293Ser)
c.961A>T (p.Thr321Ser)
c.724A>T (p.Thr242Ser)
c.108-132A>T (n.108-132A>T)
n.1008A>T
2g.232790881C>ACA351011410GIGYF2c.896C>A (p.Thr299Lys)
c.242C>A (p.Thr81Lys)
c.377C>A (p.Thr126Lys)
c.152C>A (p.Thr51Lys)
c.389C>A (p.Thr130Lys)
c.878C>A (p.Thr293Lys)
c.962C>A (p.Thr321Lys)
c.725C>A (p.Thr242Lys)
c.108-131C>A (n.108-131C>A)
n.1009C>A
2g.232790881C>GCA351011408GIGYF2c.896C>G (p.Thr299Arg)
c.242C>G (p.Thr81Arg)
c.377C>G (p.Thr126Arg)
c.152C>G (p.Thr51Arg)
c.389C>G (p.Thr130Arg)
c.878C>G (p.Thr293Arg)
c.962C>G (p.Thr321Arg)
c.725C>G (p.Thr242Arg)
c.108-131C>G (n.108-131C>G)
n.1009C>G
2g.232790881C>TCA351011409GIGYF2c.896C>T (p.Thr299Ile)
c.242C>T (p.Thr81Ile)
c.377C>T (p.Thr126Ile)
c.152C>T (p.Thr51Ile)
c.389C>T (p.Thr130Ile)
c.878C>T (p.Thr293Ile)
c.962C>T (p.Thr321Ile)
c.725C>T (p.Thr242Ile)
c.108-131C>T (n.108-131C>T)
n.1009C>T
 gnomAD v4
2g.232790882A>CCA431808083GIGYF2c.897A>C (p.Thr299=)
c.243A>C (p.Thr81=)
c.378A>C (p.Thr126=)
c.153A>C (p.Thr51=)
c.390A>C (p.Thr130=)
c.879A>C (p.Thr293=)
c.963A>C (p.Thr321=)
c.726A>C (p.Thr242=)
c.108-130A>C (n.108-130A>C)
n.1010A>C
2g.232790882A>GCA431808086GIGYF2c.897A>G (p.Thr299=)
c.243A>G (p.Thr81=)
c.378A>G (p.Thr126=)
c.153A>G (p.Thr51=)
c.390A>G (p.Thr130=)
c.879A>G (p.Thr293=)
c.963A>G (p.Thr321=)
c.726A>G (p.Thr242=)
c.108-130A>G (n.108-130A>G)
n.1010A>G
2g.232790882A>TCA431808084GIGYF2c.897A>T (p.Thr299=)
c.243A>T (p.Thr81=)
c.378A>T (p.Thr126=)
c.153A>T (p.Thr51=)
c.390A>T (p.Thr130=)
c.879A>T (p.Thr293=)
c.963A>T (p.Thr321=)
c.726A>T (p.Thr242=)
c.108-130A>T (n.108-130A>T)
n.1010A>T
2g.232790883T>ACA351011411GIGYF2c.898T>A (p.Phe300Ile)
c.244T>A (p.Phe82Ile)
c.379T>A (p.Phe127Ile)
c.154T>A (p.Phe52Ile)
c.391T>A (p.Phe131Ile)
c.880T>A (p.Phe294Ile)
c.964T>A (p.Phe322Ile)
c.727T>A (p.Phe243Ile)
c.108-129T>A (n.108-129T>A)
n.1011T>A
2g.232790883T>CCA351011412GIGYF2c.898T>C (p.Phe300Leu)
c.244T>C (p.Phe82Leu)
c.379T>C (p.Phe127Leu)
c.154T>C (p.Phe52Leu)
c.391T>C (p.Phe131Leu)
c.880T>C (p.Phe294Leu)
c.964T>C (p.Phe322Leu)
c.727T>C (p.Phe243Leu)
c.108-129T>C (n.108-129T>C)
n.1011T>C
2g.232790883T>GCA351011413GIGYF2c.898T>G (p.Phe300Val)
c.244T>G (p.Phe82Val)
c.379T>G (p.Phe127Val)
c.154T>G (p.Phe52Val)
c.391T>G (p.Phe131Val)
c.880T>G (p.Phe294Val)
c.964T>G (p.Phe322Val)
c.727T>G (p.Phe243Val)
c.108-129T>G (n.108-129T>G)
n.1011T>G
2g.232790884T>ACA351011414GIGYF2c.899T>A (p.Phe300Tyr)
c.245T>A (p.Phe82Tyr)
c.380T>A (p.Phe127Tyr)
c.155T>A (p.Phe52Tyr)
c.392T>A (p.Phe131Tyr)
c.881T>A (p.Phe294Tyr)
c.965T>A (p.Phe322Tyr)
c.728T>A (p.Phe243Tyr)
c.108-128T>A (n.108-128T>A)
n.1012T>A
2g.232790884T>CCA351011415GIGYF2c.899T>C (p.Phe300Ser)
c.245T>C (p.Phe82Ser)
c.380T>C (p.Phe127Ser)
c.155T>C (p.Phe52Ser)
c.392T>C (p.Phe131Ser)
c.881T>C (p.Phe294Ser)
c.965T>C (p.Phe322Ser)
c.728T>C (p.Phe243Ser)
c.108-128T>C (n.108-128T>C)
n.1012T>C
2g.232790884T>GCA351011416GIGYF2c.899T>G (p.Phe300Cys)
c.245T>G (p.Phe82Cys)
c.380T>G (p.Phe127Cys)
c.155T>G (p.Phe52Cys)
c.392T>G (p.Phe131Cys)
c.881T>G (p.Phe294Cys)
c.965T>G (p.Phe322Cys)
c.728T>G (p.Phe243Cys)
c.108-128T>G (n.108-128T>G)
n.1012T>G
2g.232790885T>ACA351011417GIGYF2c.900T>A (p.Phe300Leu)
c.246T>A (p.Phe82Leu)
c.381T>A (p.Phe127Leu)
c.156T>A (p.Phe52Leu)
c.393T>A (p.Phe131Leu)
c.882T>A (p.Phe294Leu)
c.966T>A (p.Phe322Leu)
c.729T>A (p.Phe243Leu)
c.108-127T>A (n.108-127T>A)
n.1013T>A
2g.232790885T>CCA431808092GIGYF2c.900T>C (p.Phe300=)
c.246T>C (p.Phe82=)
c.381T>C (p.Phe127=)
c.156T>C (p.Phe52=)
c.393T>C (p.Phe131=)
c.882T>C (p.Phe294=)
c.966T>C (p.Phe322=)
c.729T>C (p.Phe243=)
c.108-127T>C (n.108-127T>C)
n.1013T>C
2g.232790885T>GCA351011418GIGYF2c.900T>G (p.Phe300Leu)
c.246T>G (p.Phe82Leu)
c.381T>G (p.Phe127Leu)
c.156T>G (p.Phe52Leu)
c.393T>G (p.Phe131Leu)
c.882T>G (p.Phe294Leu)
c.966T>G (p.Phe322Leu)
c.729T>G (p.Phe243Leu)
c.108-127T>G (n.108-127T>G)
n.1013T>G
2g.232790886G>ACA351011419GIGYF2c.901G>A (p.Asp301Asn)
c.247G>A (p.Asp83Asn)
c.382G>A (p.Asp128Asn)
c.157G>A (p.Asp53Asn)
c.394G>A (p.Asp132Asn)
c.883G>A (p.Asp295Asn)
c.967G>A (p.Asp323Asn)
c.730G>A (p.Asp244Asn)
c.108-126G>A (n.108-126G>A)
n.1014G>A
2g.232790886G>CCA351011420GIGYF2c.901G>C (p.Asp301His)
c.247G>C (p.Asp83His)
c.382G>C (p.Asp128His)
c.157G>C (p.Asp53His)
c.394G>C (p.Asp132His)
c.883G>C (p.Asp295His)
c.967G>C (p.Asp323His)
c.730G>C (p.Asp244His)
c.108-126G>C (n.108-126G>C)
n.1014G>C
2g.232790886G>TCA351011421GIGYF2c.901G>T (p.Asp301Tyr)
c.247G>T (p.Asp83Tyr)
c.382G>T (p.Asp128Tyr)
c.157G>T (p.Asp53Tyr)
c.394G>T (p.Asp132Tyr)
c.883G>T (p.Asp295Tyr)
c.967G>T (p.Asp323Tyr)
c.730G>T (p.Asp244Tyr)
c.108-126G>T (n.108-126G>T)
n.1014G>T
2g.232790887A>CCA351011424GIGYF2c.902A>C (p.Asp301Ala)
c.248A>C (p.Asp83Ala)
c.383A>C (p.Asp128Ala)
c.158A>C (p.Asp53Ala)
c.395A>C (p.Asp132Ala)
c.884A>C (p.Asp295Ala)
c.968A>C (p.Asp323Ala)
c.731A>C (p.Asp244Ala)
c.108-125A>C (n.108-125A>C)
n.1015A>C
2g.232790887A>GCA351011423GIGYF2c.902A>G (p.Asp301Gly)
c.248A>G (p.Asp83Gly)
c.383A>G (p.Asp128Gly)
c.158A>G (p.Asp53Gly)
c.395A>G (p.Asp132Gly)
c.884A>G (p.Asp295Gly)
c.968A>G (p.Asp323Gly)
c.731A>G (p.Asp244Gly)
c.108-125A>G (n.108-125A>G)
n.1015A>G
2g.232790887A>TCA351011422GIGYF2c.902A>T (p.Asp301Val)
c.248A>T (p.Asp83Val)
c.383A>T (p.Asp128Val)
c.158A>T (p.Asp53Val)
c.395A>T (p.Asp132Val)
c.884A>T (p.Asp295Val)
c.968A>T (p.Asp323Val)
c.731A>T (p.Asp244Val)
c.108-125A>T (n.108-125A>T)
n.1015A>T
2g.232790888C>ACA351011425GIGYF2c.903C>A (p.Asp301Glu)
c.249C>A (p.Asp83Glu)
c.384C>A (p.Asp128Glu)
c.159C>A (p.Asp53Glu)
c.396C>A (p.Asp132Glu)
c.885C>A (p.Asp295Glu)
c.969C>A (p.Asp323Glu)
c.732C>A (p.Asp244Glu)
c.108-124C>A (n.108-124C>A)
n.1016C>A
2g.232790888C>GCA351011426GIGYF2c.903C>G (p.Asp301Glu)
c.249C>G (p.Asp83Glu)
c.384C>G (p.Asp128Glu)
c.159C>G (p.Asp53Glu)
c.396C>G (p.Asp132Glu)
c.885C>G (p.Asp295Glu)
c.969C>G (p.Asp323Glu)
c.732C>G (p.Asp244Glu)
c.108-124C>G (n.108-124C>G)
n.1016C>G
2g.232790888C>TCA431808104GIGYF2c.903C>T (p.Asp301=)
c.249C>T (p.Asp83=)
c.384C>T (p.Asp128=)
c.159C>T (p.Asp53=)
c.396C>T (p.Asp132=)
c.885C>T (p.Asp295=)
c.969C>T (p.Asp323=)
c.732C>T (p.Asp244=)
c.108-124C>T (n.108-124C>T)
n.1016C>T
2g.232790889T>ACA351011427GIGYF2c.904T>A (p.Ser302Thr)
c.250T>A (p.Ser84Thr)
c.385T>A (p.Ser129Thr)
c.160T>A (p.Ser54Thr)
c.397T>A (p.Ser133Thr)
c.886T>A (p.Ser296Thr)
c.970T>A (p.Ser324Thr)
c.733T>A (p.Ser245Thr)
c.108-123T>A (n.108-123T>A)
n.1017T>A
2g.232790889T>CCA351011428GIGYF2c.904T>C (p.Ser302Pro)
c.250T>C (p.Ser84Pro)
c.385T>C (p.Ser129Pro)
c.160T>C (p.Ser54Pro)
c.397T>C (p.Ser133Pro)
c.886T>C (p.Ser296Pro)
c.970T>C (p.Ser324Pro)
c.733T>C (p.Ser245Pro)
c.108-123T>C (n.108-123T>C)
n.1017T>C
2g.232790889T>GCA351011429GIGYF2c.904T>G (p.Ser302Ala)
c.250T>G (p.Ser84Ala)
c.385T>G (p.Ser129Ala)
c.160T>G (p.Ser54Ala)
c.397T>G (p.Ser133Ala)
c.886T>G (p.Ser296Ala)
c.970T>G (p.Ser324Ala)
c.733T>G (p.Ser245Ala)
c.108-123T>G (n.108-123T>G)
n.1017T>G
2g.232790890C>ACA351011430GIGYF2c.905C>A (p.Ser302Ter)
c.251C>A (p.Ser84Ter)
c.386C>A (p.Ser129Ter)
c.161C>A (p.Ser54Ter)
c.398C>A (p.Ser133Ter)
c.887C>A (p.Ser296Ter)
c.971C>A (p.Ser324Ter)
c.734C>A (p.Ser245Ter)
c.108-122C>A (n.108-122C>A)
n.1018C>A
2g.232790890C>GCA351011431GIGYF2c.905C>G (p.Ser302Ter)
c.251C>G (p.Ser84Ter)
c.386C>G (p.Ser129Ter)
c.161C>G (p.Ser54Ter)
c.398C>G (p.Ser133Ter)
c.887C>G (p.Ser296Ter)
c.971C>G (p.Ser324Ter)
c.734C>G (p.Ser245Ter)
c.108-122C>G (n.108-122C>G)
n.1018C>G
2g.232790890C>TCA351011432GIGYF2c.905C>T (p.Ser302Leu)
c.251C>T (p.Ser84Leu)
c.386C>T (p.Ser129Leu)
c.161C>T (p.Ser54Leu)
c.398C>T (p.Ser133Leu)
c.887C>T (p.Ser296Leu)
c.971C>T (p.Ser324Leu)
c.734C>T (p.Ser245Leu)
c.108-122C>T (n.108-122C>T)
n.1018C>T
 gnomAD v4
2g.232790891A>CCA431808111GIGYF2c.906A>C (p.Ser302=)
c.252A>C (p.Ser84=)
c.387A>C (p.Ser129=)
c.162A>C (p.Ser54=)
c.399A>C (p.Ser133=)
c.888A>C (p.Ser296=)
c.972A>C (p.Ser324=)
c.735A>C (p.Ser245=)
c.108-121A>C (n.108-121A>C)
n.1019A>C
2g.232790891A>GCA431808112GIGYF2c.906A>G (p.Ser302=)
c.252A>G (p.Ser84=)
c.387A>G (p.Ser129=)
c.162A>G (p.Ser54=)
c.399A>G (p.Ser133=)
c.888A>G (p.Ser296=)
c.972A>G (p.Ser324=)
c.735A>G (p.Ser245=)
c.108-121A>G (n.108-121A>G)
n.1019A>G
2g.232790891A>TCA431808114GIGYF2c.906A>T (p.Ser302=)
c.252A>T (p.Ser84=)
c.387A>T (p.Ser129=)
c.162A>T (p.Ser54=)
c.399A>T (p.Ser133=)
c.888A>T (p.Ser296=)
c.972A>T (p.Ser324=)
c.735A>T (p.Ser245=)
c.108-121A>T (n.108-121A>T)
n.1019A>T
2g.232790892T>ACA2170215GIGYF2c.907T>A (p.Ser303Thr)
c.253T>A (p.Ser85Thr)
c.388T>A (p.Ser130Thr)
c.163T>A (p.Ser55Thr)
c.400T>A (p.Ser134Thr)
c.889T>A (p.Ser297Thr)
c.973T>A (p.Ser325Thr)
c.736T>A (p.Ser246Thr)
c.108-120T>A (n.108-120T>A)
n.1020T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790892T>CCA351011434GIGYF2c.907T>C (p.Ser303Pro)
c.253T>C (p.Ser85Pro)
c.388T>C (p.Ser130Pro)
c.163T>C (p.Ser55Pro)
c.400T>C (p.Ser134Pro)
c.889T>C (p.Ser297Pro)
c.973T>C (p.Ser325Pro)
c.736T>C (p.Ser246Pro)
c.108-120T>C (n.108-120T>C)
n.1020T>C
2g.232790892T>GCA351011433GIGYF2c.907T>G (p.Ser303Ala)
c.253T>G (p.Ser85Ala)
c.388T>G (p.Ser130Ala)
c.163T>G (p.Ser55Ala)
c.400T>G (p.Ser134Ala)
c.889T>G (p.Ser297Ala)
c.973T>G (p.Ser325Ala)
c.736T>G (p.Ser246Ala)
c.108-120T>G (n.108-120T>G)
n.1020T>G
2g.232790892T=CA1335433338GIGYF2c.907T= (p.Ser303=)
c.253T= (p.Ser85=)
c.388T= (p.Ser130=)
c.163T= (p.Ser55=)
c.400T= (p.Ser134=)
c.889T= (p.Ser297=)
c.973T= (p.Ser325=)
c.736T= (p.Ser246=)
c.108-120T= (n.108-120T=)
n.1020T=
2g.232790893C>ACA351011438GIGYF2c.908C>A (p.Ser303Tyr)
c.254C>A (p.Ser85Tyr)
c.389C>A (p.Ser130Tyr)
c.164C>A (p.Ser55Tyr)
c.401C>A (p.Ser134Tyr)
c.890C>A (p.Ser297Tyr)
c.974C>A (p.Ser325Tyr)
c.737C>A (p.Ser246Tyr)
c.108-119C>A (n.108-119C>A)
n.1021C>A
2g.232790893C=CA1335433339GIGYF2c.908C= (p.Ser303=)
c.254C= (p.Ser85=)
c.389C= (p.Ser130=)
c.164C= (p.Ser55=)
c.401C= (p.Ser134=)
c.890C= (p.Ser297=)
c.974C= (p.Ser325=)
c.737C= (p.Ser246=)
c.108-119C= (n.108-119C=)
n.1021C=
2g.232790893C>GCA2170216GIGYF2c.908C>G (p.Ser303Cys)
c.254C>G (p.Ser85Cys)
c.389C>G (p.Ser130Cys)
c.164C>G (p.Ser55Cys)
c.401C>G (p.Ser134Cys)
c.890C>G (p.Ser297Cys)
c.974C>G (p.Ser325Cys)
c.737C>G (p.Ser246Cys)
c.108-119C>G (n.108-119C>G)
n.1021C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790893C>TCA351011440GIGYF2c.908C>T (p.Ser303Phe)
c.254C>T (p.Ser85Phe)
c.389C>T (p.Ser130Phe)
c.164C>T (p.Ser55Phe)
c.401C>T (p.Ser134Phe)
c.890C>T (p.Ser297Phe)
c.974C>T (p.Ser325Phe)
c.737C>T (p.Ser246Phe)
c.108-119C>T (n.108-119C>T)
n.1021C>T
 dbSNP gnomAD v2 gnomAD v4
2g.232790894T>ACA431808122GIGYF2c.909T>A (p.Ser303=)
c.255T>A (p.Ser85=)
c.390T>A (p.Ser130=)
c.165T>A (p.Ser55=)
c.402T>A (p.Ser134=)
c.891T>A (p.Ser297=)
c.975T>A (p.Ser325=)
c.738T>A (p.Ser246=)
c.108-118T>A (n.108-118T>A)
n.1022T>A
2g.232790894T>CCA431808123GIGYF2c.909T>C (p.Ser303=)
c.255T>C (p.Ser85=)
c.390T>C (p.Ser130=)
c.165T>C (p.Ser55=)
c.402T>C (p.Ser134=)
c.891T>C (p.Ser297=)
c.975T>C (p.Ser325=)
c.738T>C (p.Ser246=)
c.108-118T>C (n.108-118T>C)
n.1022T>C
2g.232790894T>GCA431808125GIGYF2c.909T>G (p.Ser303=)
c.255T>G (p.Ser85=)
c.390T>G (p.Ser130=)
c.165T>G (p.Ser55=)
c.402T>G (p.Ser134=)
c.891T>G (p.Ser297=)
c.975T>G (p.Ser325=)
c.738T>G (p.Ser246=)
c.108-118T>G (n.108-118T>G)
n.1022T>G
2g.232790895G>ACA351011442GIGYF2c.910G>A (p.Gly304Arg)
c.256G>A (p.Gly86Arg)
c.391G>A (p.Gly131Arg)
c.166G>A (p.Gly56Arg)
c.403G>A (p.Gly135Arg)
c.892G>A (p.Gly298Arg)
c.976G>A (p.Gly326Arg)
c.739G>A (p.Gly247Arg)
c.108-117G>A (n.108-117G>A)
n.1023G>A
2g.232790895G>CCA351011444GIGYF2c.910G>C (p.Gly304Arg)
c.256G>C (p.Gly86Arg)
c.391G>C (p.Gly131Arg)
c.166G>C (p.Gly56Arg)
c.403G>C (p.Gly135Arg)
c.892G>C (p.Gly298Arg)
c.976G>C (p.Gly326Arg)
c.739G>C (p.Gly247Arg)
c.108-117G>C (n.108-117G>C)
n.1023G>C
2g.232790895G>TCA351011446GIGYF2c.910G>T (p.Gly304Ter)
c.256G>T (p.Gly86Ter)
c.391G>T (p.Gly131Ter)
c.166G>T (p.Gly56Ter)
c.403G>T (p.Gly135Ter)
c.892G>T (p.Gly298Ter)
c.976G>T (p.Gly326Ter)
c.739G>T (p.Gly247Ter)
c.108-117G>T (n.108-117G>T)
n.1023G>T
2g.232790896G>ACA351011450GIGYF2c.911G>A (p.Gly304Glu)
c.257G>A (p.Gly86Glu)
c.392G>A (p.Gly131Glu)
c.167G>A (p.Gly56Glu)
c.404G>A (p.Gly135Glu)
c.893G>A (p.Gly298Glu)
c.977G>A (p.Gly326Glu)
c.740G>A (p.Gly247Glu)
c.108-116G>A (n.108-116G>A)
n.1024G>A
2g.232790896G>CCA351011453GIGYF2c.911G>C (p.Gly304Ala)
c.257G>C (p.Gly86Ala)
c.392G>C (p.Gly131Ala)
c.167G>C (p.Gly56Ala)
c.404G>C (p.Gly135Ala)
c.893G>C (p.Gly298Ala)
c.977G>C (p.Gly326Ala)
c.740G>C (p.Gly247Ala)
c.108-116G>C (n.108-116G>C)
n.1024G>C
2g.232790896G>TCA351011451GIGYF2c.911G>T (p.Gly304Val)
c.257G>T (p.Gly86Val)
c.392G>T (p.Gly131Val)
c.167G>T (p.Gly56Val)
c.404G>T (p.Gly135Val)
c.893G>T (p.Gly298Val)
c.977G>T (p.Gly326Val)
c.740G>T (p.Gly247Val)
c.108-116G>T (n.108-116G>T)
n.1024G>T
2g.232790897A=CA1335433340GIGYF2c.912A= (p.Gly304=)
c.258A= (p.Gly86=)
c.393A= (p.Gly131=)
c.168A= (p.Gly56=)
c.405A= (p.Gly135=)
c.894A= (p.Gly298=)
c.978A= (p.Gly326=)
c.741A= (p.Gly247=)
c.108-115A= (n.108-115A=)
n.1025A=
2g.232790897A>CCA431808132GIGYF2c.912A>C (p.Gly304=)
c.258A>C (p.Gly86=)
c.393A>C (p.Gly131=)
c.168A>C (p.Gly56=)
c.405A>C (p.Gly135=)
c.894A>C (p.Gly298=)
c.978A>C (p.Gly326=)
c.741A>C (p.Gly247=)
c.108-115A>C (n.108-115A>C)
n.1025A>C
2g.232790897A>GCA431808134GIGYF2c.912A>G (p.Gly304=)
c.258A>G (p.Gly86=)
c.393A>G (p.Gly131=)
c.168A>G (p.Gly56=)
c.405A>G (p.Gly135=)
c.894A>G (p.Gly298=)
c.978A>G (p.Gly326=)
c.741A>G (p.Gly247=)
c.108-115A>G (n.108-115A>G)
n.1025A>G
 dbSNP gnomAD v2 gnomAD v4
2g.232790897A>TCA431808133GIGYF2c.912A>T (p.Gly304=)
c.258A>T (p.Gly86=)
c.393A>T (p.Gly131=)
c.168A>T (p.Gly56=)
c.405A>T (p.Gly135=)
c.894A>T (p.Gly298=)
c.978A>T (p.Gly326=)
c.741A>T (p.Gly247=)
c.108-115A>T (n.108-115A>T)
n.1025A>T
2g.232790898G>ACA351011456GIGYF2c.913G>A (p.Ala305Thr)
c.259G>A (p.Ala87Thr)
c.394G>A (p.Ala132Thr)
c.169G>A (p.Ala57Thr)
c.406G>A (p.Ala136Thr)
c.895G>A (p.Ala299Thr)
c.979G>A (p.Ala327Thr)
c.742G>A (p.Ala248Thr)
c.108-114G>A (n.108-114G>A)
n.1026G>A
2g.232790898G>CCA351011458GIGYF2c.913G>C (p.Ala305Pro)
c.259G>C (p.Ala87Pro)
c.394G>C (p.Ala132Pro)
c.169G>C (p.Ala57Pro)
c.406G>C (p.Ala136Pro)
c.895G>C (p.Ala299Pro)
c.979G>C (p.Ala327Pro)
c.742G>C (p.Ala248Pro)
c.108-114G>C (n.108-114G>C)
n.1026G>C
2g.232790898G>TCA351011460GIGYF2c.913G>T (p.Ala305Ser)
c.259G>T (p.Ala87Ser)
c.394G>T (p.Ala132Ser)
c.169G>T (p.Ala57Ser)
c.406G>T (p.Ala136Ser)
c.895G>T (p.Ala299Ser)
c.979G>T (p.Ala327Ser)
c.742G>T (p.Ala248Ser)
c.108-114G>T (n.108-114G>T)
n.1026G>T
2g.232790899C>ACA351011461GIGYF2c.914C>A (p.Ala305Glu)
c.260C>A (p.Ala87Glu)
c.395C>A (p.Ala132Glu)
c.170C>A (p.Ala57Glu)
c.407C>A (p.Ala136Glu)
c.896C>A (p.Ala299Glu)
c.980C>A (p.Ala327Glu)
c.743C>A (p.Ala248Glu)
c.108-113C>A (n.108-113C>A)
n.1027C>A
2g.232790899C>GCA351011464GIGYF2c.914C>G (p.Ala305Gly)
c.260C>G (p.Ala87Gly)
c.395C>G (p.Ala132Gly)
c.170C>G (p.Ala57Gly)
c.407C>G (p.Ala136Gly)
c.896C>G (p.Ala299Gly)
c.980C>G (p.Ala327Gly)
c.743C>G (p.Ala248Gly)
c.108-113C>G (n.108-113C>G)
n.1027C>G
2g.232790899C>TCA351011465GIGYF2c.914C>T (p.Ala305Val)
c.260C>T (p.Ala87Val)
c.395C>T (p.Ala132Val)
c.170C>T (p.Ala57Val)
c.407C>T (p.Ala136Val)
c.896C>T (p.Ala299Val)
c.980C>T (p.Ala327Val)
c.743C>T (p.Ala248Val)
c.108-113C>T (n.108-113C>T)
n.1027C>T
2g.232790900A=CA1335433341GIGYF2c.915A= (p.Ala305=)
c.261A= (p.Ala87=)
c.396A= (p.Ala132=)
c.171A= (p.Ala57=)
c.408A= (p.Ala136=)
c.897A= (p.Ala299=)
c.981A= (p.Ala327=)
c.744A= (p.Ala248=)
c.108-112A= (n.108-112A=)
n.1028A=
2g.232790900A>CCA431808139GIGYF2c.915A>C (p.Ala305=)
c.261A>C (p.Ala87=)
c.396A>C (p.Ala132=)
c.171A>C (p.Ala57=)
c.408A>C (p.Ala136=)
c.897A>C (p.Ala299=)
c.981A>C (p.Ala327=)
c.744A>C (p.Ala248=)
c.108-112A>C (n.108-112A>C)
n.1028A>C
2g.232790900A>GCA431808141GIGYF2c.915A>G (p.Ala305=)
c.261A>G (p.Ala87=)
c.396A>G (p.Ala132=)
c.171A>G (p.Ala57=)
c.408A>G (p.Ala136=)
c.897A>G (p.Ala299=)
c.981A>G (p.Ala327=)
c.744A>G (p.Ala248=)
c.108-112A>G (n.108-112A>G)
n.1028A>G
 dbSNP gnomAD v2 gnomAD v4
2g.232790900A>TCA431808143GIGYF2c.915A>T (p.Ala305=)
c.261A>T (p.Ala87=)
c.396A>T (p.Ala132=)
c.171A>T (p.Ala57=)
c.408A>T (p.Ala136=)
c.897A>T (p.Ala299=)
c.981A>T (p.Ala327=)
c.744A>T (p.Ala248=)
c.108-112A>T (n.108-112A>T)
n.1028A>T
 gnomAD v4
2g.232790901T>ACA351011467GIGYF2c.916T>A (p.Phe306Ile)
c.262T>A (p.Phe88Ile)
c.397T>A (p.Phe133Ile)
c.172T>A (p.Phe58Ile)
c.409T>A (p.Phe137Ile)
c.898T>A (p.Phe300Ile)
c.982T>A (p.Phe328Ile)
c.745T>A (p.Phe249Ile)
c.108-111T>A (n.108-111T>A)
n.1029T>A
2g.232790901T>CCA351011469GIGYF2c.916T>C (p.Phe306Leu)
c.262T>C (p.Phe88Leu)
c.397T>C (p.Phe133Leu)
c.172T>C (p.Phe58Leu)
c.409T>C (p.Phe137Leu)
c.898T>C (p.Phe300Leu)
c.982T>C (p.Phe328Leu)
c.745T>C (p.Phe249Leu)
c.108-111T>C (n.108-111T>C)
n.1029T>C
2g.232790901T>GCA351011471GIGYF2c.916T>G (p.Phe306Val)
c.262T>G (p.Phe88Val)
c.397T>G (p.Phe133Val)
c.172T>G (p.Phe58Val)
c.409T>G (p.Phe137Val)
c.898T>G (p.Phe300Val)
c.982T>G (p.Phe328Val)
c.745T>G (p.Phe249Val)
c.108-111T>G (n.108-111T>G)
n.1029T>G
2g.232790902T>ACA351011472GIGYF2c.917T>A (p.Phe306Tyr)
c.263T>A (p.Phe88Tyr)
c.398T>A (p.Phe133Tyr)
c.173T>A (p.Phe58Tyr)
c.410T>A (p.Phe137Tyr)
c.899T>A (p.Phe300Tyr)
c.983T>A (p.Phe328Tyr)
c.746T>A (p.Phe249Tyr)
c.108-110T>A (n.108-110T>A)
n.1030T>A
2g.232790902T>CCA351011474GIGYF2c.917T>C (p.Phe306Ser)
c.263T>C (p.Phe88Ser)
c.398T>C (p.Phe133Ser)
c.173T>C (p.Phe58Ser)
c.410T>C (p.Phe137Ser)
c.899T>C (p.Phe300Ser)
c.983T>C (p.Phe328Ser)
c.746T>C (p.Phe249Ser)
c.108-110T>C (n.108-110T>C)
n.1030T>C
2g.232790902T>GCA351011477GIGYF2c.917T>G (p.Phe306Cys)
c.263T>G (p.Phe88Cys)
c.398T>G (p.Phe133Cys)
c.173T>G (p.Phe58Cys)
c.410T>G (p.Phe137Cys)
c.899T>G (p.Phe300Cys)
c.983T>G (p.Phe328Cys)
c.746T>G (p.Phe249Cys)
c.108-110T>G (n.108-110T>G)
n.1030T>G
2g.232790903C>ACA351011479GIGYF2c.918C>A (p.Phe306Leu)
c.264C>A (p.Phe88Leu)
c.399C>A (p.Phe133Leu)
c.174C>A (p.Phe58Leu)
c.411C>A (p.Phe137Leu)
c.900C>A (p.Phe300Leu)
c.984C>A (p.Phe328Leu)
c.747C>A (p.Phe249Leu)
c.108-109C>A (n.108-109C>A)
n.1031C>A
2g.232790903C=CA1335433342GIGYF2c.918C= (p.Phe306=)
c.264C= (p.Phe88=)
c.399C= (p.Phe133=)
c.174C= (p.Phe58=)
c.411C= (p.Phe137=)
c.900C= (p.Phe300=)
c.984C= (p.Phe328=)
c.747C= (p.Phe249=)
c.108-109C= (n.108-109C=)
n.1031C=
2g.232790903C>GCA351011481GIGYF2c.918C>G (p.Phe306Leu)
c.264C>G (p.Phe88Leu)
c.399C>G (p.Phe133Leu)
c.174C>G (p.Phe58Leu)
c.411C>G (p.Phe137Leu)
c.900C>G (p.Phe300Leu)
c.984C>G (p.Phe328Leu)
c.747C>G (p.Phe249Leu)
c.108-109C>G (n.108-109C>G)
n.1031C>G
2g.232790903C>TCA431808153GIGYF2c.918C>T (p.Phe306=)
c.264C>T (p.Phe88=)
c.399C>T (p.Phe133=)
c.174C>T (p.Phe58=)
c.411C>T (p.Phe137=)
c.900C>T (p.Phe300=)
c.984C>T (p.Phe328=)
c.747C>T (p.Phe249=)
c.108-109C>T (n.108-109C>T)
n.1031C>T
 dbSNP gnomAD v3 gnomAD v4
2g.232790904C>ACA351011484GIGYF2c.919C>A (p.Leu307Ile)
c.265C>A (p.Leu89Ile)
c.400C>A (p.Leu134Ile)
c.175C>A (p.Leu59Ile)
c.412C>A (p.Leu138Ile)
c.901C>A (p.Leu301Ile)
c.985C>A (p.Leu329Ile)
c.748C>A (p.Leu250Ile)
c.108-108C>A (n.108-108C>A)
n.1032C>A
2g.232790904C=CA1335433343GIGYF2c.919C= (p.Leu307=)
c.265C= (p.Leu89=)
c.400C= (p.Leu134=)
c.175C= (p.Leu59=)
c.412C= (p.Leu138=)
c.901C= (p.Leu301=)
c.985C= (p.Leu329=)
c.748C= (p.Leu250=)
c.108-108C= (n.108-108C=)
n.1032C=
2g.232790904C>GCA351011487GIGYF2c.919C>G (p.Leu307Val)
c.265C>G (p.Leu89Val)
c.400C>G (p.Leu134Val)
c.175C>G (p.Leu59Val)
c.412C>G (p.Leu138Val)
c.901C>G (p.Leu301Val)
c.985C>G (p.Leu329Val)
c.748C>G (p.Leu250Val)
c.108-108C>G (n.108-108C>G)
n.1032C>G
2g.232790904C>TCA351011486GIGYF2c.919C>T (p.Leu307Phe)
c.265C>T (p.Leu89Phe)
c.400C>T (p.Leu134Phe)
c.175C>T (p.Leu59Phe)
c.412C>T (p.Leu138Phe)
c.901C>T (p.Leu301Phe)
c.985C>T (p.Leu329Phe)
c.748C>T (p.Leu250Phe)
c.108-108C>T (n.108-108C>T)
n.1032C>T
 dbSNP gnomAD v3 gnomAD v4
2g.232790905T>ACA351011489GIGYF2c.920T>A (p.Leu307His)
c.266T>A (p.Leu89His)
c.401T>A (p.Leu134His)
c.176T>A (p.Leu59His)
c.413T>A (p.Leu138His)
c.902T>A (p.Leu301His)
c.986T>A (p.Leu329His)
c.749T>A (p.Leu250His)
c.108-107T>A (n.108-107T>A)
n.1033T>A
2g.232790905T>CCA351011490GIGYF2c.920T>C (p.Leu307Pro)
c.266T>C (p.Leu89Pro)
c.401T>C (p.Leu134Pro)
c.176T>C (p.Leu59Pro)
c.413T>C (p.Leu138Pro)
c.902T>C (p.Leu301Pro)
c.986T>C (p.Leu329Pro)
c.749T>C (p.Leu250Pro)
c.108-107T>C (n.108-107T>C)
n.1033T>C
2g.232790905T>GCA2170217GIGYF2c.920T>G (p.Leu307Arg)
c.266T>G (p.Leu89Arg)
c.401T>G (p.Leu134Arg)
c.176T>G (p.Leu59Arg)
c.413T>G (p.Leu138Arg)
c.902T>G (p.Leu301Arg)
c.986T>G (p.Leu329Arg)
c.749T>G (p.Leu250Arg)
c.108-107T>G (n.108-107T>G)
n.1033T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790905T=CA1335433344GIGYF2c.920T= (p.Leu307=)
c.266T= (p.Leu89=)
c.401T= (p.Leu134=)
c.176T= (p.Leu59=)
c.413T= (p.Leu138=)
c.902T= (p.Leu301=)
c.986T= (p.Leu329=)
c.749T= (p.Leu250=)
c.108-107T= (n.108-107T=)
n.1033T=
2g.232790906T>ACA431808159GIGYF2c.921T>A (p.Leu307=)
c.267T>A (p.Leu89=)
c.402T>A (p.Leu134=)
c.177T>A (p.Leu59=)
c.414T>A (p.Leu138=)
c.903T>A (p.Leu301=)
c.987T>A (p.Leu329=)
c.750T>A (p.Leu250=)
c.108-106T>A (n.108-106T>A)
n.1034T>A
2g.232790906T>CCA431808160GIGYF2c.921T>C (p.Leu307=)
c.267T>C (p.Leu89=)
c.402T>C (p.Leu134=)
c.177T>C (p.Leu59=)
c.414T>C (p.Leu138=)
c.903T>C (p.Leu301=)
c.987T>C (p.Leu329=)
c.750T>C (p.Leu250=)
c.108-106T>C (n.108-106T>C)
n.1034T>C
2g.232790906T>GCA431808162GIGYF2c.921T>G (p.Leu307=)
c.267T>G (p.Leu89=)
c.402T>G (p.Leu134=)
c.177T>G (p.Leu59=)
c.414T>G (p.Leu138=)
c.903T>G (p.Leu301=)
c.987T>G (p.Leu329=)
c.750T>G (p.Leu250=)
c.108-106T>G (n.108-106T>G)
n.1034T>G
2g.232790907T>ACA351011494GIGYF2c.922T>A (p.Ser308Thr)
c.268T>A (p.Ser90Thr)
c.403T>A (p.Ser135Thr)
c.178T>A (p.Ser60Thr)
c.415T>A (p.Ser139Thr)
c.904T>A (p.Ser302Thr)
c.988T>A (p.Ser330Thr)
c.751T>A (p.Ser251Thr)
c.108-105T>A (n.108-105T>A)
n.1035T>A
2g.232790907T>CCA351011496GIGYF2c.922T>C (p.Ser308Pro)
c.268T>C (p.Ser90Pro)
c.403T>C (p.Ser135Pro)
c.178T>C (p.Ser60Pro)
c.415T>C (p.Ser139Pro)
c.904T>C (p.Ser302Pro)
c.988T>C (p.Ser330Pro)
c.751T>C (p.Ser251Pro)
c.108-105T>C (n.108-105T>C)
n.1035T>C
2g.232790907T>GCA351011498GIGYF2c.922T>G (p.Ser308Ala)
c.268T>G (p.Ser90Ala)
c.403T>G (p.Ser135Ala)
c.178T>G (p.Ser60Ala)
c.415T>G (p.Ser139Ala)
c.904T>G (p.Ser302Ala)
c.988T>G (p.Ser330Ala)
c.751T>G (p.Ser251Ala)
c.108-105T>G (n.108-105T>G)
n.1035T>G
2g.232790908C>ACA351011500GIGYF2c.923C>A (p.Ser308Tyr)
c.269C>A (p.Ser90Tyr)
c.404C>A (p.Ser135Tyr)
c.179C>A (p.Ser60Tyr)
c.416C>A (p.Ser139Tyr)
c.905C>A (p.Ser302Tyr)
c.989C>A (p.Ser330Tyr)
c.752C>A (p.Ser251Tyr)
c.108-104C>A (n.108-104C>A)
n.1036C>A
2g.232790908C>GCA351011502GIGYF2c.923C>G (p.Ser308Cys)
c.269C>G (p.Ser90Cys)
c.404C>G (p.Ser135Cys)
c.179C>G (p.Ser60Cys)
c.416C>G (p.Ser139Cys)
c.905C>G (p.Ser302Cys)
c.989C>G (p.Ser330Cys)
c.752C>G (p.Ser251Cys)
c.108-104C>G (n.108-104C>G)
n.1036C>G
2g.232790908C>TCA351011504GIGYF2c.923C>T (p.Ser308Phe)
c.269C>T (p.Ser90Phe)
c.404C>T (p.Ser135Phe)
c.179C>T (p.Ser60Phe)
c.416C>T (p.Ser139Phe)
c.905C>T (p.Ser302Phe)
c.989C>T (p.Ser330Phe)
c.752C>T (p.Ser251Phe)
c.108-104C>T (n.108-104C>T)
n.1036C>T
2g.232790909T>ACA431808168GIGYF2c.924T>A (p.Ser308=)
c.270T>A (p.Ser90=)
c.405T>A (p.Ser135=)
c.180T>A (p.Ser60=)
c.417T>A (p.Ser139=)
c.906T>A (p.Ser302=)
c.990T>A (p.Ser330=)
c.753T>A (p.Ser251=)
c.108-103T>A (n.108-103T>A)
n.1037T>A
2g.232790909T>CCA431808170GIGYF2c.924T>C (p.Ser308=)
c.270T>C (p.Ser90=)
c.405T>C (p.Ser135=)
c.180T>C (p.Ser60=)
c.417T>C (p.Ser139=)
c.906T>C (p.Ser302=)
c.990T>C (p.Ser330=)
c.753T>C (p.Ser251=)
c.108-103T>C (n.108-103T>C)
n.1037T>C
2g.232790909T>GCA431808173GIGYF2c.924T>G (p.Ser308=)
c.270T>G (p.Ser90=)
c.405T>G (p.Ser135=)
c.180T>G (p.Ser60=)
c.417T>G (p.Ser139=)
c.906T>G (p.Ser302=)
c.990T>G (p.Ser330=)
c.753T>G (p.Ser251=)
c.108-103T>G (n.108-103T>G)
n.1037T>G
2g.232790910C>ACA351011506GIGYF2c.925C>A (p.Leu309Ile)
c.271C>A (p.Leu91Ile)
c.406C>A (p.Leu136Ile)
c.181C>A (p.Leu61Ile)
c.418C>A (p.Leu140Ile)
c.907C>A (p.Leu303Ile)
c.991C>A (p.Leu331Ile)
c.754C>A (p.Leu252Ile)
c.108-102C>A (n.108-102C>A)
n.1038C>A
2g.232790910C>GCA351011508GIGYF2c.925C>G (p.Leu309Val)
c.271C>G (p.Leu91Val)
c.406C>G (p.Leu136Val)
c.181C>G (p.Leu61Val)
c.418C>G (p.Leu140Val)
c.907C>G (p.Leu303Val)
c.991C>G (p.Leu331Val)
c.754C>G (p.Leu252Val)
c.108-102C>G (n.108-102C>G)
n.1038C>G
 gnomAD v4
2g.232790910C>TCA431808177GIGYF2c.925C>T (p.Leu309=)
c.271C>T (p.Leu91=)
c.406C>T (p.Leu136=)
c.181C>T (p.Leu61=)
c.418C>T (p.Leu140=)
c.907C>T (p.Leu303=)
c.991C>T (p.Leu331=)
c.754C>T (p.Leu252=)
c.108-102C>T (n.108-102C>T)
n.1038C>T
2g.232790911T>ACA351011514GIGYF2c.926T>A (p.Leu309Gln)
c.272T>A (p.Leu91Gln)
c.407T>A (p.Leu136Gln)
c.182T>A (p.Leu61Gln)
c.419T>A (p.Leu140Gln)
c.908T>A (p.Leu303Gln)
c.992T>A (p.Leu331Gln)
c.755T>A (p.Leu252Gln)
c.108-101T>A (n.108-101T>A)
n.1039T>A
2g.232790911T>CCA351011512GIGYF2c.926T>C (p.Leu309Pro)
c.272T>C (p.Leu91Pro)
c.407T>C (p.Leu136Pro)
c.182T>C (p.Leu61Pro)
c.419T>C (p.Leu140Pro)
c.908T>C (p.Leu303Pro)
c.992T>C (p.Leu331Pro)
c.755T>C (p.Leu252Pro)
c.108-101T>C (n.108-101T>C)
n.1039T>C
2g.232790911T>GCA351011510GIGYF2c.926T>G (p.Leu309Arg)
c.272T>G (p.Leu91Arg)
c.407T>G (p.Leu136Arg)
c.182T>G (p.Leu61Arg)
c.419T>G (p.Leu140Arg)
c.908T>G (p.Leu303Arg)
c.992T>G (p.Leu331Arg)
c.755T>G (p.Leu252Arg)
c.108-101T>G (n.108-101T>G)
n.1039T>G
 dbSNP gnomAD v3 gnomAD v4
2g.232790911T=CA1335433345GIGYF2c.926T= (p.Leu309=)
c.272T= (p.Leu91=)
c.407T= (p.Leu136=)
c.182T= (p.Leu61=)
c.419T= (p.Leu140=)
c.908T= (p.Leu303=)
c.992T= (p.Leu331=)
c.755T= (p.Leu252=)
c.108-101T= (n.108-101T=)
n.1039T=
2g.232790912A=CA1335433346GIGYF2c.927A= (p.Leu309=)
c.273A= (p.Leu91=)
c.408A= (p.Leu136=)
c.183A= (p.Leu61=)
c.420A= (p.Leu140=)
c.909A= (p.Leu303=)
c.993A= (p.Leu331=)
c.756A= (p.Leu252=)
c.108-100A= (n.108-100A=)
n.1040A=
2g.232790912A>CCA431808180GIGYF2c.927A>C (p.Leu309=)
c.273A>C (p.Leu91=)
c.408A>C (p.Leu136=)
c.183A>C (p.Leu61=)
c.420A>C (p.Leu140=)
c.909A>C (p.Leu303=)
c.993A>C (p.Leu331=)
c.756A>C (p.Leu252=)
c.108-100A>C (n.108-100A>C)
n.1040A>C
2g.232790912A>GCA2170218GIGYF2c.927A>G (p.Leu309=)
c.273A>G (p.Leu91=)
c.408A>G (p.Leu136=)
c.183A>G (p.Leu61=)
c.420A>G (p.Leu140=)
c.909A>G (p.Leu303=)
c.993A>G (p.Leu331=)
c.756A>G (p.Leu252=)
c.108-100A>G (n.108-100A>G)
n.1040A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790912A>TCA431808183GIGYF2c.927A>T (p.Leu309=)
c.273A>T (p.Leu91=)
c.408A>T (p.Leu136=)
c.183A>T (p.Leu61=)
c.420A>T (p.Leu140=)
c.909A>T (p.Leu303=)
c.993A>T (p.Leu331=)
c.756A>T (p.Leu252=)
c.108-100A>T (n.108-100A>T)
n.1040A>T
2g.232790913A>CCA351011518GIGYF2c.928A>C (p.Lys310Gln)
c.274A>C (p.Lys92Gln)
c.409A>C (p.Lys137Gln)
c.184A>C (p.Lys62Gln)
c.421A>C (p.Lys141Gln)
c.910A>C (p.Lys304Gln)
c.994A>C (p.Lys332Gln)
c.757A>C (p.Lys253Gln)
c.108-99A>C (n.108-99A>C)
n.1041A>C
2g.232790913A>GCA351011519GIGYF2c.928A>G (p.Lys310Glu)
c.274A>G (p.Lys92Glu)
c.409A>G (p.Lys137Glu)
c.184A>G (p.Lys62Glu)
c.421A>G (p.Lys141Glu)
c.910A>G (p.Lys304Glu)
c.994A>G (p.Lys332Glu)
c.757A>G (p.Lys253Glu)
c.108-99A>G (n.108-99A>G)
n.1041A>G
2g.232790913A>TCA351011521GIGYF2c.928A>T (p.Lys310Ter)
c.274A>T (p.Lys92Ter)
c.409A>T (p.Lys137Ter)
c.184A>T (p.Lys62Ter)
c.421A>T (p.Lys141Ter)
c.910A>T (p.Lys304Ter)
c.994A>T (p.Lys332Ter)
c.757A>T (p.Lys253Ter)
c.108-99A>T (n.108-99A>T)
n.1041A>T
2g.232790914A>CCA351011523GIGYF2c.929A>C (p.Lys310Thr)
c.275A>C (p.Lys92Thr)
c.410A>C (p.Lys137Thr)
c.185A>C (p.Lys62Thr)
c.422A>C (p.Lys141Thr)
c.911A>C (p.Lys304Thr)
c.995A>C (p.Lys332Thr)
c.758A>C (p.Lys253Thr)
c.108-98A>C (n.108-98A>C)
n.1042A>C
2g.232790914A>GCA351011525GIGYF2c.929A>G (p.Lys310Arg)
c.275A>G (p.Lys92Arg)
c.410A>G (p.Lys137Arg)
c.185A>G (p.Lys62Arg)
c.422A>G (p.Lys141Arg)
c.911A>G (p.Lys304Arg)
c.995A>G (p.Lys332Arg)
c.758A>G (p.Lys253Arg)
c.108-98A>G (n.108-98A>G)
n.1042A>G
2g.232790914A>TCA351011527GIGYF2c.929A>T (p.Lys310Ile)
c.275A>T (p.Lys92Ile)
c.410A>T (p.Lys137Ile)
c.185A>T (p.Lys62Ile)
c.422A>T (p.Lys141Ile)
c.911A>T (p.Lys304Ile)
c.995A>T (p.Lys332Ile)
c.758A>T (p.Lys253Ile)
c.108-98A>T (n.108-98A>T)
n.1042A>T
2g.232790915A=CA1335433347GIGYF2c.930A= (p.Lys310=)
c.276A= (p.Lys92=)
c.411A= (p.Lys137=)
c.186A= (p.Lys62=)
c.423A= (p.Lys141=)
c.912A= (p.Lys304=)
c.996A= (p.Lys332=)
c.759A= (p.Lys253=)
c.108-97A= (n.108-97A=)
n.1043A=
2g.232790915A>CCA351011529GIGYF2c.930A>C (p.Lys310Asn)
c.276A>C (p.Lys92Asn)
c.411A>C (p.Lys137Asn)
c.186A>C (p.Lys62Asn)
c.423A>C (p.Lys141Asn)
c.912A>C (p.Lys304Asn)
c.996A>C (p.Lys332Asn)
c.759A>C (p.Lys253Asn)
c.108-97A>C (n.108-97A>C)
n.1043A>C
2g.232790915A>GCA431954226GIGYF2c.930A>G (p.Lys310=)
c.276A>G (p.Lys92=)
c.411A>G (p.Lys137=)
c.186A>G (p.Lys62=)
c.423A>G (p.Lys141=)
c.912A>G (p.Lys304=)
c.996A>G (p.Lys332=)
c.759A>G (p.Lys253=)
c.108-97A>G (n.108-97A>G)
n.1043A>G
 dbSNP gnomAD v3 gnomAD v4
2g.232790915A>TCA351011530GIGYF2c.930A>T (p.Lys310Asn)
c.276A>T (p.Lys92Asn)
c.411A>T (p.Lys137Asn)
c.186A>T (p.Lys62Asn)
c.423A>T (p.Lys141Asn)
c.912A>T (p.Lys304Asn)
c.996A>T (p.Lys332Asn)
c.759A>T (p.Lys253Asn)
c.108-97A>T (n.108-97A>T)
n.1043A>T
2g.232790916G>ACA351011532GIGYF2c.930+1G>A (n.930+1G>A)
c.276+1G>A (n.276+1G>A)
c.411+1G>A (n.411+1G>A)
c.186+1G>A (n.186+1G>A)
c.423+1G>A (n.423+1G>A)
c.912+1G>A (n.912+1G>A)
c.996+1G>A (n.996+1G>A)
c.759+1G>A (n.759+1G>A)
c.108-96G>A (n.108-96G>A)
n.1043+1G>A
2g.232790916G>CCA351011535GIGYF2c.930+1G>C (n.930+1G>C)
c.276+1G>C (n.276+1G>C)
c.411+1G>C (n.411+1G>C)
c.186+1G>C (n.186+1G>C)
c.423+1G>C (n.423+1G>C)
c.912+1G>C (n.912+1G>C)
c.996+1G>C (n.996+1G>C)
c.759+1G>C (n.759+1G>C)
c.108-96G>C (n.108-96G>C)
n.1043+1G>C
2g.232790916G>TCA351011537GIGYF2c.930+1G>T (n.930+1G>T)
c.276+1G>T (n.276+1G>T)
c.411+1G>T (n.411+1G>T)
c.186+1G>T (n.186+1G>T)
c.423+1G>T (n.423+1G>T)
c.912+1G>T (n.912+1G>T)
c.996+1G>T (n.996+1G>T)
c.759+1G>T (n.759+1G>T)
c.108-96G>T (n.108-96G>T)
n.1043+1G>T
2g.232790917T>ACA351011540GIGYF2c.930+2T>A (n.930+2T>A)
c.276+2T>A (n.276+2T>A)
c.411+2T>A (n.411+2T>A)
c.186+2T>A (n.186+2T>A)
c.423+2T>A (n.423+2T>A)
c.912+2T>A (n.912+2T>A)
c.996+2T>A (n.996+2T>A)
c.759+2T>A (n.759+2T>A)
c.108-95T>A (n.108-95T>A)
n.1043+2T>A
2g.232790917T>CCA351011544GIGYF2c.930+2T>C (n.930+2T>C)
c.276+2T>C (n.276+2T>C)
c.411+2T>C (n.411+2T>C)
c.186+2T>C (n.186+2T>C)
c.423+2T>C (n.423+2T>C)
c.912+2T>C (n.912+2T>C)
c.996+2T>C (n.996+2T>C)
c.759+2T>C (n.759+2T>C)
c.108-95T>C (n.108-95T>C)
n.1043+2T>C
2g.232790917T>GCA351011542GIGYF2c.930+2T>G (n.930+2T>G)
c.276+2T>G (n.276+2T>G)
c.411+2T>G (n.411+2T>G)
c.186+2T>G (n.186+2T>G)
c.423+2T>G (n.423+2T>G)
c.912+2T>G (n.912+2T>G)
c.996+2T>G (n.996+2T>G)
c.759+2T>G (n.759+2T>G)
c.108-95T>G (n.108-95T>G)
n.1043+2T>G

Number of alleles fetched