Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208124173G>ACA350092583CRYGDc.191C>T (p.Ala64Val)
n.97+4948G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124173G>CCA350092584CRYGDc.191C>G (p.Ala64Gly)
n.97+4948G>C
2g.208124173G=CA1323928888CRYGDc.191C= (p.Ala64=)
n.97+4948G=
2g.208124173G>TCA350092585CRYGDc.191C>A (p.Ala64Asp)
n.97+4948G>T
2g.208124174C>ACA350092588CRYGDc.190G>T (p.Ala64Ser)
n.97+4949C>A
2g.208124174C=CA1323928889CRYGDc.190G= (p.Ala64=)
n.97+4949C=
2g.208124174C>GCA350092587CRYGDc.190G>C (p.Ala64Pro)
n.97+4949C>G
dbSNP
2g.208124174C>TCA350092586CRYGDc.190G>A (p.Ala64Thr)
n.97+4949C>T
dbSNP gnomAD v4
2g.208124175A=CA1323928890CRYGDc.189T= (p.Tyr63=)
n.97+4950A=
2g.208124175A>CCA350092589CRYGDc.189T>G (p.Tyr63Ter)
n.97+4950A>C
2g.208124175A>GCA2077709CRYGDc.189T>C (p.Tyr63=)
n.97+4950A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124175A>TCA350092590CRYGDc.189T>A (p.Tyr63Ter)
n.97+4950A>T
2g.208124176T>ACA350092591CRYGDc.188A>T (p.Tyr63Phe)
n.97+4951T>A
2g.208124176T>CCA2077710CRYGDc.188A>G (p.Tyr63Cys)
n.97+4951T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124176T>GCA350092592CRYGDc.188A>C (p.Tyr63Ser)
n.97+4951T>G
2g.208124176T=CA1323928891CRYGDc.188A= (p.Tyr63=)
n.97+4951T=
2g.208124177A=CA1323928892CRYGDc.187T= (p.Tyr63=)
n.97+4952A=
2g.208124177A>CCA350092593CRYGDc.187T>G (p.Tyr63Asp)
n.97+4952A>C
2g.208124177A>GCA350092595CRYGDc.187T>C (p.Tyr63His)
n.97+4952A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124177A>TCA350092594CRYGDc.187T>A (p.Tyr63Asn)
n.97+4952A>T
2g.208124178G>ACA430964603CRYGDc.186C>T (p.Asp62=)
n.97+4953G>A
2g.208124178G>CCA350092596CRYGDc.186C>G (p.Asp62Glu)
n.97+4953G>C
dbSNP
2g.208124178G=CA1323928893CRYGDc.186C= (p.Asp62=)
n.97+4953G=
2g.208124178G>TCA350092597CRYGDc.186C>A (p.Asp62Glu)
n.97+4953G>T
2g.208124179T>ACA350092598CRYGDc.185A>T (p.Asp62Val)
n.97+4954T>A
2g.208124179T>CCA350092599CRYGDc.185A>G (p.Asp62Gly)
n.97+4954T>C
dbSNP gnomAD v4
2g.208124179T>GCA350092600CRYGDc.185A>C (p.Asp62Ala)
n.97+4954T>G
2g.208124179T=CA1323928894CRYGDc.185A= (p.Asp62=)
n.97+4954T=
2g.208124180C>ACA350092601CRYGDc.184G>T (p.Asp62Tyr)
n.97+4955C>A
gnomAD v4
2g.208124180C=CA1323928895CRYGDc.184G= (p.Asp62=)
n.97+4955C=
2g.208124180C>GCA350092602CRYGDc.184G>C (p.Asp62His)
n.97+4955C>G
gnomAD v4
2g.208124180C>TCA2077711CRYGDc.184G>A (p.Asp62Asn)
n.97+4955C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124181G>ACA430964606CRYGDc.183C>T (p.Gly61=)
n.97+4956G>A
gnomAD v4
2g.208124181G>CCA430964605CRYGDc.183C>G (p.Gly61=)
n.97+4956G>C
gnomAD v4
2g.208124181G>TCA430964604CRYGDc.183C>A (p.Gly61=)
n.97+4956G>T
2g.208124182C>ACA350092603CRYGDc.182G>T (p.Gly61Val)
n.97+4957C>A
2g.208124182C>GCA350092604CRYGDc.182G>C (p.Gly61Ala)
n.97+4957C>G
2g.208124182C>TCA350092605CRYGDc.182G>A (p.Gly61Asp)
n.97+4957C>T
2g.208124183C>ACA2077712CRYGDc.181G>T (p.Gly61Cys)
n.97+4958C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124183C=CA1323928896CRYGDc.181G= (p.Gly61=)
n.97+4958C=
2g.208124183C>GCA350092606CRYGDc.181G>C (p.Gly61Arg)
n.97+4958C>G
2g.208124183C>TCA2077713CRYGDc.181G>A (p.Gly61Ser)
n.97+4958C>T
dbSNP ExAC gnomAD v2
2g.208124184G>ACA2077714CRYGDc.180C>T (p.Arg60=)
n.97+4959G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124184G>CCA430964607CRYGDc.180C>G (p.Arg60=)
n.97+4959G>C
2g.208124184G=CA1323928897CRYGDc.180C= (p.Arg60=)
n.97+4959G=
2g.208124184G>TCA430964608CRYGDc.180C>A (p.Arg60=)
n.97+4959G>T
2g.208124185C>ACA350092607CRYGDc.179G>T (p.Arg60Leu)
n.97+4960C>A
2g.208124185C=CA1323928898CRYGDc.179G= (p.Arg60=)
n.97+4960C=
2g.208124185C>GCA350092608CRYGDc.179G>C (p.Arg60Pro)
n.97+4960C>G
2g.208124185C>TCA64607724CRYGDc.179G>A (p.Arg60His)
n.97+4960C>T
dbSNP
2g.208124186G>ACA350092609CRYGDc.178C>T (p.Arg60Cys)
n.97+4961G>A
gnomAD v4
2g.208124186G>CCA350092610CRYGDc.178C>G (p.Arg60Gly)
n.97+4961G>C
2g.208124186G>TCA350092611CRYGDc.178C>A (p.Arg60Ser)
n.97+4961G>T
2g.208124187G>ACA430964609CRYGDc.177C>T (p.Arg59=)
n.97+4962G>A
dbSNP COSMIC
2g.208124187G>CCA430964611CRYGDc.177C>G (p.Arg59=)
n.97+4962G>C
2g.208124187G=CA1323928899CRYGDc.177C= (p.Arg59=)
n.97+4962G=
2g.208124187G>TCA430964610CRYGDc.177C>A (p.Arg59=)
n.97+4962G>T
2g.208124188C>ACA350092612CRYGDc.176G>T (p.Arg59Leu)
n.97+4963C>A
2g.208124188C=CA1323928900CRYGDc.176G= (p.Arg59=)
n.97+4963C=
2g.208124188C>GCA350092613CRYGDc.176G>C (p.Arg59Pro)
n.97+4963C>G
2g.208124188C>TCA214961CRYGDc.176G>A (p.Arg59His)
n.97+4963C>T
ClinVar dbSNP
2g.208124189G>ACA2077715CRYGDc.175C>T (p.Arg59Cys)
n.97+4964G>A
dbSNP ExAC gnomAD v4
2g.208124189G>CCA350092614CRYGDc.175C>G (p.Arg59Gly)
n.97+4964G>C
gnomAD v4
2g.208124189G=CA1323928901CRYGDc.175C= (p.Arg59=)
n.97+4964G=
2g.208124189G>TCA350092615CRYGDc.175C>A (p.Arg59Ser)
n.97+4964G>T
gnomAD v4
2g.208124190C>ACA430964612CRYGDc.174G>T (p.Leu58=)
n.97+4965C>A
2g.208124190C>GCA430964613CRYGDc.174G>C (p.Leu58=)
n.97+4965C>G
2g.208124190C>TCA430964614CRYGDc.174G>A (p.Leu58=)
n.97+4965C>T
2g.208124191A=CA1323928902CRYGDc.173T= (p.Leu58=)
n.97+4966A=
2g.208124191A>CCA2077716CRYGDc.173T>G (p.Leu58Arg)
n.97+4966A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124191A>GCA350092617CRYGDc.173T>C (p.Leu58Pro)
n.97+4966A>G
2g.208124191A>TCA350092616CRYGDc.173T>A (p.Leu58Gln)
n.97+4966A>T
2g.208124192G>ACA430964615CRYGDc.172C>T (p.Leu58=)
n.97+4967G>A
COSMIC
2g.208124192G>CCA350092618CRYGDc.172C>G (p.Leu58Val)
n.97+4967G>C
2g.208124192G>TCA350092619CRYGDc.172C>A (p.Leu58Met)
n.97+4967G>T
2g.208124193G>ACA430964616CRYGDc.171C>T (p.Phe57=)
n.97+4968G>A
dbSNP
2g.208124193G>CCA350092620CRYGDc.171C>G (p.Phe57Leu)
n.97+4968G>C
dbSNP gnomAD v3 gnomAD v4
2g.208124193G=CA1323928903CRYGDc.171C= (p.Phe57=)
n.97+4968G=
2g.208124193G>TCA350092621CRYGDc.171C>A (p.Phe57Leu)
n.97+4968G>T
gnomAD v4
2g.208124194A>CCA350092622CRYGDc.170T>G (p.Phe57Cys)
n.97+4969A>C
2g.208124194A>GCA350092623CRYGDc.170T>C (p.Phe57Ser)
n.97+4969A>G
gnomAD v4
2g.208124194A>TCA350092624CRYGDc.170T>A (p.Phe57Tyr)
n.97+4969A>T
gnomAD v4
2g.208124195A>CCA350092625CRYGDc.169T>G (p.Phe57Val)
n.97+4970A>C
2g.208124195A>GCA350092626CRYGDc.169T>C (p.Phe57Leu)
n.97+4970A>G
gnomAD v4
2g.208124195A>TCA350092627CRYGDc.169T>A (p.Phe57Ile)
n.97+4970A>T
2g.208124196G>ACA430964617CRYGDc.168C>T (p.Tyr56=)
n.97+4971G>A
2g.208124196G>CCA2077717CRYGDc.168C>G (p.Tyr56Ter)
n.97+4971G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124196G=CA1323928904CRYGDc.168C= (p.Tyr56=)
n.97+4971G=
2g.208124196G>TCA350092628CRYGDc.168C>A (p.Tyr56Ter)
n.97+4971G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124197T>ACA350092629CRYGDc.167A>T (p.Tyr56Phe)
n.97+4972T>A
2g.208124197T>CCA350092631CRYGDc.167A>G (p.Tyr56Cys)
n.97+4972T>C
2g.208124197T>GCA350092630CRYGDc.167A>C (p.Tyr56Ser)
n.97+4972T>G
2g.208124198_208124200dupCA2077718CRYGDc.165_167dup (p.Tyr56Ter)
n.97+4973_97+4975dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124198A>CCA350092632CRYGDc.166T>G (p.Tyr56Asp)
n.97+4973A>C
2g.208124198A>GCA350092633CRYGDc.166T>C (p.Tyr56His)
n.97+4973A>G
2g.208124198A>TCA350092634CRYGDc.166T>A (p.Tyr56Asn)
n.97+4973A>T
2g.208124199C>ACA350092635CRYGDc.165G>T (p.Gln55His)
n.97+4974C>A
2g.208124199C>GCA350092636CRYGDc.165G>C (p.Gln55His)
n.97+4974C>G
gnomAD v4
2g.208124199C>TCA430964618CRYGDc.165G>A (p.Gln55=)
n.97+4974C>T
2g.208124200T>ACA350092637CRYGDc.164A>T (p.Gln55Leu)
n.97+4975T>A
2g.208124200T>CCA2077719CRYGDc.164A>G (p.Gln55Arg)
n.97+4975T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124200T>GCA350092638CRYGDc.164A>C (p.Gln55Pro)
n.97+4975T>G
2g.208124200T=CA1323928905CRYGDc.164A= (p.Gln55=)
n.97+4975T=
2g.208124201G>ACA350092639CRYGDc.163C>T (p.Gln55Ter)
n.97+4976G>A
2g.208124201G>CCA350092640CRYGDc.163C>G (p.Gln55Glu)
n.97+4976G>C
gnomAD v4
2g.208124201G>TCA350092641CRYGDc.163C>A (p.Gln55Lys)
n.97+4976G>T
2g.208124203_208124205delCA2697550357CRYGDc.161_163del (p.Leu54del)
n.97+4978_97+4980del
ClinVar
2g.208124202G>ACA430964621CRYGDc.162C>T (p.Leu54=)
n.97+4977G>A
2g.208124202G>CCA430964619CRYGDc.162C>G (p.Leu54=)
n.97+4977G>C
2g.208124202G>TCA430964620CRYGDc.162C>A (p.Leu54=)
n.97+4977G>T
2g.208124203delCA2662867757CRYGDc.161del (p.Leu54ProfsTer?)
n.97+4978del
gnomAD v4
2g.208124203A>CCA350092644CRYGDc.161T>G (p.Leu54Arg)
n.97+4978A>C
2g.208124203A>GCA350092643CRYGDc.161T>C (p.Leu54Pro)
n.97+4978A>G
gnomAD v4
2g.208124203A>TCA350092642CRYGDc.161T>A (p.Leu54His)
n.97+4978A>T
2g.208124204G>ACA350092645CRYGDc.160C>T (p.Leu54Phe)
n.97+4979G>A
2g.208124204G>CCA350092647CRYGDc.160C>G (p.Leu54Val)
n.97+4979G>C
2g.208124204G>TCA350092646CRYGDc.160C>A (p.Leu54Ile)
n.97+4979G>T
2g.208124205G>ACA430964622CRYGDc.159C>T (p.Gly53=)
n.97+4980G>A
dbSNP gnomAD v3 gnomAD v4
2g.208124205G>CCA430964623CRYGDc.159C>G (p.Gly53=)
n.97+4980G>C
2g.208124205G=CA1323928906CRYGDc.159C= (p.Gly53=)
n.97+4980G=
2g.208124205G>TCA430964624CRYGDc.159C>A (p.Gly53=)
n.97+4980G>T
2g.208124206C>ACA350092648CRYGDc.158G>T (p.Gly53Val)
n.97+4981C>A
2g.208124206C=CA1323928907CRYGDc.158G= (p.Gly53=)
n.97+4981C=
2g.208124206C>GCA350092649CRYGDc.158G>C (p.Gly53Ala)
n.97+4981C>G
dbSNP gnomAD v3 gnomAD v4
2g.208124206C>TCA350092650CRYGDc.158G>A (p.Gly53Asp)
n.97+4981C>T
dbSNP gnomAD v2 gnomAD v4
2g.208124208dupCA763924614CRYGDc.158dup (p.Leu54ProfsTer?)
n.97+4983dup
dbSNP
2g.208124207C>ACA350092651CRYGDc.157G>T (p.Gly53Cys)
n.97+4982C>A
2g.208124207C>GCA350092652CRYGDc.157G>C (p.Gly53Arg)
n.97+4982C>G
2g.208124207C>TCA350092653CRYGDc.157G>A (p.Gly53Ser)
n.97+4982C>T
2g.208124208C>ACA430964626CRYGDc.156G>T (p.Ser52=)
n.97+4983C>A
2g.208124208C=CA1323928908CRYGDc.156G= (p.Ser52=)
n.97+4983C=
2g.208124208C>GCA430964625CRYGDc.156G>C (p.Ser52=)
n.97+4983C>G
dbSNP gnomAD v2 gnomAD v4
2g.208124208C>TCA2077720CRYGDc.156G>A (p.Ser52=)
n.97+4983C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124209G>ACA350092654CRYGDc.155C>T (p.Ser52Leu)
n.97+4984G>A
gnomAD v4
2g.208124209G>CCA2077721CRYGDc.155C>G (p.Ser52Trp)
n.97+4984G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124209G=CA1323928909CRYGDc.155C= (p.Ser52=)
n.97+4984G=
2g.208124209G>TCA350092655CRYGDc.155C>A (p.Ser52Ter)
n.97+4984G>T
2g.208124210A>CCA350092656CRYGDc.154T>G (p.Ser52Ala)
n.97+4985A>C
gnomAD v4
2g.208124210A>GCA350092657CRYGDc.154T>C (p.Ser52Pro)
n.97+4985A>G
ClinVar
2g.208124210A>TCA350092658CRYGDc.154T>A (p.Ser52Thr)
n.97+4985A>T
2g.208124211G>ACA2077722CRYGDc.153C>T (p.Tyr51=)
n.97+4986G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124211G>CCA350092660CRYGDc.153C>G (p.Tyr51Ter)
n.97+4986G>C
gnomAD v4 COSMIC
2g.208124211G=CA1323928910CRYGDc.153C= (p.Tyr51=)
n.97+4986G=
2g.208124211G>TCA350092659CRYGDc.153C>A (p.Tyr51Ter)
n.97+4986G>T
2g.208124212T>ACA350092661CRYGDc.152A>T (p.Tyr51Phe)
n.97+4987T>A
2g.208124212T>CCA350092662CRYGDc.152A>G (p.Tyr51Cys)
n.97+4987T>C
2g.208124212T>GCA350092663CRYGDc.152A>C (p.Tyr51Ser)
n.97+4987T>G
dbSNP
2g.208124212T=CA1323928911CRYGDc.152A= (p.Tyr51=)
n.97+4987T=
2g.208124212dupCA2077723CRYGDc.152dup (p.Tyr51Ter)
n.97+4987dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124213A>CCA350092664CRYGDc.151T>G (p.Tyr51Asp)
n.97+4988A>C
2g.208124213A>GCA350092665CRYGDc.151T>C (p.Tyr51His)
n.97+4988A>G
2g.208124213A>TCA350092666CRYGDc.151T>A (p.Tyr51Asn)
n.97+4988A>T
2g.208124214G>ACA430964628CRYGDc.150C>T (p.Asn50=)
n.97+4989G>A
2g.208124214G>CCA350092667CRYGDc.150C>G (p.Asn50Lys)
n.97+4989G>C
gnomAD v4
2g.208124214G=CA1323928912CRYGDc.150C= (p.Asn50=)
n.97+4989G=
2g.208124214G>TCA2077724CRYGDc.150C>A (p.Asn50Lys)
n.97+4989G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124215T>ACA350092670CRYGDc.149A>T (p.Asn50Ile)
n.97+4990T>A
2g.208124215T>CCA350092669CRYGDc.149A>G (p.Asn50Ser)
n.97+4990T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124215T>GCA350092668CRYGDc.149A>C (p.Asn50Thr)
n.97+4990T>G
2g.208124215T=CA1323928913CRYGDc.149A= (p.Asn50=)
n.97+4990T=
2g.208124216T>ACA350092671CRYGDc.148A>T (p.Asn50Tyr)
n.97+4991T>A
2g.208124216T>CCA350092672CRYGDc.148A>G (p.Asn50Asp)
n.97+4991T>C
dbSNP
2g.208124216T>GCA350092673CRYGDc.148A>C (p.Asn50His)
n.97+4991T>G
2g.208124216T=CA1323928914CRYGDc.148A= (p.Asn50=)
n.97+4991T=
2g.208124217G>ACA430964629CRYGDc.147C>T (p.Pro49=)
n.97+4992G>A
2g.208124217G>CCA430964630CRYGDc.147C>G (p.Pro49=)
n.97+4992G>C
dbSNP gnomAD v3 gnomAD v4
2g.208124217G=CA1323928915CRYGDc.147C= (p.Pro49=)
n.97+4992G=
2g.208124217G>TCA430964631CRYGDc.147C>A (p.Pro49=)
n.97+4992G>T
gnomAD v4
2g.208124218G>ACA350092674CRYGDc.146C>T (p.Pro49Leu)
n.97+4993G>A
2g.208124218G>CCA350092675CRYGDc.146C>G (p.Pro49Arg)
n.97+4993G>C
gnomAD v4
2g.208124218G>TCA350092676CRYGDc.146C>A (p.Pro49His)
n.97+4993G>T
2g.208124219G>ACA350092679CRYGDc.145C>T (p.Pro49Ser)
n.97+4994G>A
2g.208124219G>CCA350092677CRYGDc.145C>G (p.Pro49Ala)
n.97+4994G>C
2g.208124219G>TCA350092678CRYGDc.145C>A (p.Pro49Thr)
n.97+4994G>T
2g.208124220C>ACA350092680CRYGDc.144G>T (p.Gln48His)
n.97+4995C>A
2g.208124220C>GCA350092681CRYGDc.144G>C (p.Gln48His)
n.97+4995C>G
2g.208124220C>TCA430964632CRYGDc.144G>A (p.Gln48=)
n.97+4995C>T
gnomAD v4
2g.208124220_208124221delinsCTCA1323928916CRYGDc.143_144delinsAG (p.Gln48=)
n.97+4995_97+4996delinsCT
2g.208124221delCA539389073CRYGDc.143del (p.Gln48ArgfsTer?)
n.97+4996del
dbSNP gnomAD v2 gnomAD v4
2g.208124221T>ACA350092682CRYGDc.143A>T (p.Gln48Leu)
n.97+4996T>A
2g.208124221T>CCA350092683CRYGDc.143A>G (p.Gln48Arg)
n.97+4996T>C
gnomAD v4
2g.208124221T>GCA350092684CRYGDc.143A>C (p.Gln48Pro)
n.97+4996T>G
2g.208124222G>ACA350092685CRYGDc.142C>T (p.Gln48Ter)
n.97+4997G>A
2g.208124222G>CCA350092687CRYGDc.142C>G (p.Gln48Glu)
n.97+4997G>C
2g.208124222G>TCA350092686CRYGDc.142C>A (p.Gln48Lys)
n.97+4997G>T
2g.208124223C>ACA350092688CRYGDc.141G>T (p.Glu47Asp)
n.97+4998C>A
2g.208124223C=CA1323928917CRYGDc.141G= (p.Glu47=)
n.97+4998C=
2g.208124223C>GCA350092689CRYGDc.141G>C (p.Glu47Asp)
n.97+4998C>G
dbSNP
2g.208124223C>TCA430964633CRYGDc.141G>A (p.Glu47=)
n.97+4998C>T
2g.208124224T>ACA350092690CRYGDc.140A>T (p.Glu47Val)
n.97+4999T>A
2g.208124224T>CCA350092691CRYGDc.140A>G (p.Glu47Gly)
n.97+4999T>C
gnomAD v4
2g.208124224T>GCA350092692CRYGDc.140A>C (p.Glu47Ala)
n.97+4999T>G
2g.208124225C>ACA350092693CRYGDc.139G>T (p.Glu47Ter)
n.97+5000C>A
2g.208124225C=CA1323928918CRYGDc.139G= (p.Glu47=)
n.97+5000C=
2g.208124225C>GCA350092694CRYGDc.139G>C (p.Glu47Gln)
n.97+5000C>G
2g.208124225C>TCA350092695CRYGDc.139G>A (p.Glu47Lys)
n.97+5000C>T
dbSNP
2g.208124226A=CA1323928919CRYGDc.138T= (p.Tyr46=)
n.97+5001A=
2g.208124226A>CCA350092696CRYGDc.138T>G (p.Tyr46Ter)
n.97+5001A>C
2g.208124226A>GCA430964634CRYGDc.138T>C (p.Tyr46=)
n.97+5001A>G
dbSNP gnomAD v2 gnomAD v4
2g.208124226A>TCA350092697CRYGDc.138T>A (p.Tyr46Ter)
n.97+5001A>T
2g.208124227T>ACA350092699CRYGDc.137A>T (p.Tyr46Phe)
n.97+5002T>A
COSMIC
2g.208124227T>CCA2077725CRYGDc.137A>G (p.Tyr46Cys)
n.97+5002T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124227T>GCA350092698CRYGDc.137A>C (p.Tyr46Ser)
n.97+5002T>G
2g.208124227T=CA1323928920CRYGDc.137A= (p.Tyr46=)
n.97+5002T=
2g.208124228A>CCA350092700CRYGDc.136T>G (p.Tyr46Asp)
n.97+5003A>C
2g.208124228A>GCA350092702CRYGDc.136T>C (p.Tyr46His)
n.97+5003A>G
2g.208124228A>TCA350092701CRYGDc.136T>A (p.Tyr46Asn)
n.97+5003A>T
2g.208124229G>ACA430964635CRYGDc.135C>T (p.Leu45=)
n.97+5004G>A
2g.208124229G>CCA430964637CRYGDc.135C>G (p.Leu45=)
n.97+5004G>C
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208124229G=CA1323928921CRYGDc.135C= (p.Leu45=)
n.97+5004G=
2g.208124229G>TCA430964636CRYGDc.135C>A (p.Leu45=)
n.97+5004G>T
2g.208124230A=CA1323928922CRYGDc.134T= (p.Leu45=)
n.97+5005A=
2g.208124230A>CCA350092703CRYGDc.134T>G (p.Leu45Arg)
n.97+5005A>C
2g.208124230A>GCA236116CRYGDc.134T>C (p.Leu45Pro)
n.97+5005A>G
ClinVar dbSNP
2g.208124230A>TCA350092704CRYGDc.134T>A (p.Leu45His)
n.97+5005A>T
2g.208124231G>ACA350092705CRYGDc.133C>T (p.Leu45Phe)
n.97+5006G>A
2g.208124231G>CCA350092706CRYGDc.133C>G (p.Leu45Val)
n.97+5006G>C
2g.208124231G>TCA350092707CRYGDc.133C>A (p.Leu45Ile)
n.97+5006G>T
2g.208124232C>ACA350092708CRYGDc.132G>T (p.Met44Ile)
n.97+5007C>A
2g.208124232C=CA1323928923CRYGDc.132G= (p.Met44=)
n.97+5007C=
2g.208124232C>GCA350092709CRYGDc.132G>C (p.Met44Ile)
n.97+5007C>G
2g.208124232C>TCA2077726CRYGDc.132G>A (p.Met44Ile)
n.97+5007C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124233A=CA1323928924CRYGDc.131T= (p.Met44=)
n.97+5008A=
2g.208124233A>CCA350092710CRYGDc.131T>G (p.Met44Arg)
n.97+5008A>C
dbSNP gnomAD v4
2g.208124233A>GCA350092711CRYGDc.131T>C (p.Met44Thr)
n.97+5008A>G
2g.208124233A>TCA350092712CRYGDc.131T>A (p.Met44Lys)
n.97+5008A>T
2g.208124234T>ACA64607801CRYGDc.130A>T (p.Met44Leu)
n.97+5009T>A
dbSNP gnomAD v4
2g.208124234T>CCA2077727CRYGDc.130A>G (p.Met44Val)
n.97+5009T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124234T>GCA350092713CRYGDc.130A>C (p.Met44Leu)
n.97+5009T>G
dbSNP gnomAD v2 gnomAD v4
2g.208124234T=CA1323928925CRYGDc.130A= (p.Met44=)
n.97+5009T=
2g.208124235C>ACA350092714CRYGDc.129G>T (p.Trp43Cys)
n.97+5010C>A
dbSNP gnomAD v2 gnomAD v4
2g.208124235C=CA1323928926CRYGDc.129G= (p.Trp43=)
n.97+5010C=
2g.208124235C>GCA350092715CRYGDc.129G>C (p.Trp43Cys)
n.97+5010C>G
dbSNP gnomAD v2 gnomAD v4
2g.208124235C>TCA350092716CRYGDc.129G>A (p.Trp43Ter)
n.97+5010C>T
gnomAD v4
2g.208124236C>ACA350092717CRYGDc.128G>T (p.Trp43Leu)
n.97+5011C>A
2g.208124236C=CA1323928927CRYGDc.128G= (p.Trp43=)
n.97+5011C=
2g.208124236C>GCA350092718CRYGDc.128G>C (p.Trp43Ser)
n.97+5011C>G
2g.208124236C>TCA350092719CRYGDc.128G>A (p.Trp43Ter)
n.97+5011C>T
dbSNP gnomAD v3 gnomAD v4
2g.208124237A=CA1323928928CRYGDc.127T= (p.Trp43=)
n.97+5012A=
2g.208124237A>CCA2077728CRYGDc.127T>G (p.Trp43Gly)
n.97+5012A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124237A>GCA350092720CRYGDc.127T>C (p.Trp43Arg)
n.97+5012A>G
gnomAD v4
2g.208124237A>TCA350092721CRYGDc.127T>A (p.Trp43Arg)
n.97+5012A>T
2g.208124238G>ACA430964638CRYGDc.126C>T (p.Cys42=)
n.97+5013G>A
dbSNP gnomAD v2 gnomAD v4
2g.208124238G>CCA350092722CRYGDc.126C>G (p.Cys42Trp)
n.97+5013G>C
dbSNP gnomAD v4
2g.208124238G=CA1323928929CRYGDc.126C= (p.Cys42=)
n.97+5013G=
2g.208124238G>TCA350092723CRYGDc.126C>A (p.Cys42Ter)
n.97+5013G>T
2g.208124239C>ACA350092725CRYGDc.125G>T (p.Cys42Phe)
n.97+5014C>A
2g.208124239C>GCA350092726CRYGDc.125G>C (p.Cys42Ser)
n.97+5014C>G
gnomAD v4
2g.208124239C>TCA350092724CRYGDc.125G>A (p.Cys42Tyr)
n.97+5014C>T
gnomAD v4
2g.208124240A>CCA350092727CRYGDc.124T>G (p.Cys42Gly)
n.97+5015A>C
2g.208124240A>GCA350092728CRYGDc.124T>C (p.Cys42Arg)
n.97+5015A>G
2g.208124240A>TCA350092729CRYGDc.124T>A (p.Cys42Ser)
n.97+5015A>T
2g.208124241G>ACA430964639CRYGDc.123C>T (p.Gly41=)
n.97+5016G>A
2g.208124241G>CCA430964640CRYGDc.123C>G (p.Gly41=)
n.97+5016G>C
gnomAD v4
2g.208124241G>TCA430964641CRYGDc.123C>A (p.Gly41=)
n.97+5016G>T
2g.208124242C>ACA2077729CRYGDc.122G>T (p.Gly41Val)
n.97+5017C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124242C=CA1323928930CRYGDc.122G= (p.Gly41=)
n.97+5017C=
2g.208124242C>GCA350092730CRYGDc.122G>C (p.Gly41Ala)
n.97+5017C>G
2g.208124242C>TCA350092731CRYGDc.122G>A (p.Gly41Asp)
n.97+5017C>T
gnomAD v4
2g.208124243C>ACA350092732CRYGDc.121G>T (p.Gly41Cys)
n.97+5018C>A
2g.208124243C>GCA350092733CRYGDc.121G>C (p.Gly41Arg)
n.97+5018C>G
2g.208124243C>TCA350092734CRYGDc.121G>A (p.Gly41Ser)
n.97+5018C>T
gnomAD v4
2g.208124244G>ACA430964642CRYGDc.120C>T (p.Ser40=)
n.97+5019G>A
dbSNP gnomAD v2 gnomAD v4
2g.208124244G>CCA2077730CRYGDc.120C>G (p.Ser40Arg)
n.97+5019G>C
dbSNP ExAC gnomAD v3 gnomAD v4
2g.208124244G=CA1323928931CRYGDc.120C= (p.Ser40=)
n.97+5019G=
2g.208124244G>TCA2077731CRYGDc.120C>A (p.Ser40Arg)
n.97+5019G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124245C>ACA350092736CRYGDc.119G>T (p.Ser40Ile)
n.97+5020C>A
gnomAD v4
2g.208124245C>GCA350092737CRYGDc.119G>C (p.Ser40Thr)
n.97+5020C>G
2g.208124245C>TCA350092735CRYGDc.119G>A (p.Ser40Asn)
n.97+5020C>T
COSMIC
2g.208124246T>ACA350092738CRYGDc.118A>T (p.Ser40Cys)
n.97+5021T>A
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.208124246T>CCA350092739CRYGDc.118A>G (p.Ser40Gly)
n.97+5021T>C
dbSNP gnomAD v2 gnomAD v4
2g.208124246T>GCA350092740CRYGDc.118A>C (p.Ser40Arg)
n.97+5021T>G
2g.208124246T=CA1323928932CRYGDc.118A= (p.Ser40=)
n.97+5021T=
2g.208124247G>ACA430964643CRYGDc.117C>T (p.Asp39=)
n.97+5022G>A
2g.208124247G>CCA350092741CRYGDc.117C>G (p.Asp39Glu)
n.97+5022G>C
2g.208124247G>TCA350092742CRYGDc.117C>A (p.Asp39Glu)
n.97+5022G>T
2g.208124248T>ACA350092745CRYGDc.116A>T (p.Asp39Val)
n.97+5023T>A
2g.208124248T>CCA350092743CRYGDc.116A>G (p.Asp39Gly)
n.97+5023T>C
2g.208124248T>GCA350092744CRYGDc.116A>C (p.Asp39Ala)
n.97+5023T>G
2g.208124249C>ACA350092746CRYGDc.115G>T (p.Asp39Tyr)
n.97+5024C>A
2g.208124249C=CA1323928933CRYGDc.115G= (p.Asp39=)
n.97+5024C=
2g.208124249C>GCA2077732CRYGDc.115G>C (p.Asp39His)
n.97+5024C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124249C>TCA350092747CRYGDc.115G>A (p.Asp39Asn)
n.97+5024C>T
dbSNP gnomAD v2 gnomAD v4
2g.208124250_208124252delCA2754048738CRYGDc.113_115del (p.Val38del)
n.97+5025_97+5027del
2g.208124250C>ACA430964644CRYGDc.114G>T (p.Val38=)
n.97+5025C>A
2g.208124250C>GCA430964645CRYGDc.114G>C (p.Val38=)
n.97+5025C>G
2g.208124250C>TCA430964646CRYGDc.114G>A (p.Val38=)
n.97+5025C>T
2g.208124251A>CCA350092748CRYGDc.113T>G (p.Val38Gly)
n.97+5026A>C
2g.208124251A>GCA350092749CRYGDc.113T>C (p.Val38Ala)
n.97+5026A>G
2g.208124251A>TCA350092750CRYGDc.113T>A (p.Val38Glu)
n.97+5026A>T
2g.208124252C>ACA350092752CRYGDc.112G>T (p.Val38Leu)
n.97+5027C>A
2g.208124252C=CA1323928934CRYGDc.112G= (p.Val38=)
n.97+5027C=
2g.208124252C>GCA350092753CRYGDc.112G>C (p.Val38Leu)
n.97+5027C>G
2g.208124252C>TCA350092751CRYGDc.112G>A (p.Val38Met)
n.97+5027C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208124253G>ACA430964647CRYGDc.111C>T (p.Arg37=)
n.97+5028G>A
dbSNP gnomAD v3 gnomAD v4
2g.208124253G>CCA430964648CRYGDc.111C>G (p.Arg37=)
n.97+5028G>C
2g.208124253G=CA1323928935CRYGDc.111C= (p.Arg37=)
n.97+5028G=
2g.208124253G>TCA430964649CRYGDc.111C>A (p.Arg37=)
n.97+5028G>T
COSMIC
2g.208124254C>ACA350092756CRYGDc.110G>T (p.Arg37Leu)
n.97+5029C>A
dbSNP gnomAD v4
2g.208124254C=CA1323928936CRYGDc.110G= (p.Arg37=)
n.97+5029C=
2g.208124254C>GCA350092754CRYGDc.110G>C (p.Arg37Pro)
n.97+5029C>G
ClinVar
2g.208124254C>TCA350092755CRYGDc.110G>A (p.Arg37His)
n.97+5029C>T
gnomAD v4
2g.208124255G>ACA64607815CRYGDc.109C>T (p.Arg37Cys)
n.97+5030G>A
dbSNP gnomAD v4
2g.208124255G>CCA350092757CRYGDc.109C>G (p.Arg37Gly)
n.97+5030G>C
dbSNP
2g.208124255G=CA1323928937CRYGDc.109C= (p.Arg37=)
n.97+5030G=
2g.208124255G>TCA214962CRYGDc.109C>A (p.Arg37Ser)
n.97+5030G>T
ClinVar dbSNP
2g.208124256C>ACA430964650CRYGDc.108G>T (p.Ala36=)
n.97+5031C>A
dbSNP
2g.208124256C=CA1323928938CRYGDc.108G= (p.Ala36=)
n.97+5031C=
2g.208124256C>GCA430964651CRYGDc.108G>C (p.Ala36=)
n.97+5031C>G
2g.208124256C>TCA2077733CRYGDc.108G>A (p.Ala36=)
n.97+5031C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124257G>ACA2077734CRYGDc.107C>T (p.Ala36Val)
n.97+5032G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124257G>CCA350092758CRYGDc.107C>G (p.Ala36Gly)
n.97+5032G>C
2g.208124257G=CA1323928939CRYGDc.107C= (p.Ala36=)
n.97+5032G=
2g.208124257G>TCA350092759CRYGDc.107C>A (p.Ala36Glu)
n.97+5032G>T
dbSNP
2g.208124258C>ACA350092760CRYGDc.106G>T (p.Ala36Ser)
n.97+5033C>A
2g.208124258C>GCA350092761CRYGDc.106G>C (p.Ala36Pro)
n.97+5033C>G
2g.208124258C>TCA350092762CRYGDc.106G>A (p.Ala36Thr)
n.97+5033C>T
2g.208124259C>ACA430964652CRYGDc.105G>T (p.Ser35=)
n.97+5034C>A
2g.208124259C>GCA430964653CRYGDc.105G>C (p.Ser35=)
n.97+5034C>G
2g.208124259C>TCA430964654CRYGDc.105G>A (p.Ser35=)
n.97+5034C>T
2g.208124260G>ACA350092765CRYGDc.104C>T (p.Ser35Leu)
n.97+5035G>A
2g.208124260G>CCA350092763CRYGDc.104C>G (p.Ser35Trp)
n.97+5035G>C
gnomAD v4
2g.208124260G>TCA350092764CRYGDc.104C>A (p.Ser35Ter)
n.97+5035G>T
2g.208124261A>CCA350092766CRYGDc.103T>G (p.Ser35Ala)
n.97+5036A>C
2g.208124261A>GCA350092767CRYGDc.103T>C (p.Ser35Pro)
n.97+5036A>G
2g.208124261A>TCA350092768CRYGDc.103T>A (p.Ser35Thr)
n.97+5036A>T
2g.208124262G>ACA2077735CRYGDc.102C>T (p.Asn34=)
n.97+5037G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124262G>CCA350092769CRYGDc.102C>G (p.Asn34Lys)
n.97+5037G>C
2g.208124262G=CA1323928940CRYGDc.102C= (p.Asn34=)
n.97+5037G=
2g.208124262G>TCA350092770CRYGDc.102C>A (p.Asn34Lys)
n.97+5037G>T
2g.208124263T>ACA350092771CRYGDc.101A>T (p.Asn34Ile)
n.97+5038T>A
2g.208124263T>CCA350092772CRYGDc.101A>G (p.Asn34Ser)
n.97+5038T>C
2g.208124263T>GCA350092773CRYGDc.101A>C (p.Asn34Thr)
n.97+5038T>G
2g.208124264T>ACA350092774CRYGDc.100A>T (p.Asn34Tyr)
n.97+5039T>A
2g.208124264T>CCA350092775CRYGDc.100A>G (p.Asn34Asp)
n.97+5039T>C
2g.208124264T>GCA350092776CRYGDc.100A>C (p.Asn34His)
n.97+5039T>G
dbSNP gnomAD v2 gnomAD v4
2g.208124264T=CA1323928941CRYGDc.100A= (p.Asn34=)
n.97+5039T=
2g.208124265G>ACA2077736CRYGDc.99C>T (p.Cys33=)
n.97+5040G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124265G>CCA350092778CRYGDc.99C>G (p.Cys33Trp)
n.97+5040G>C
2g.208124265G=CA1323928942CRYGDc.99C= (p.Cys33=)
n.97+5040G=
2g.208124265G>TCA350092777CRYGDc.99C>A (p.Cys33Ter)
n.97+5040G>T
2g.208124266C>ACA350092779CRYGDc.98G>T (p.Cys33Phe)
n.97+5041C>A
2g.208124266C>GCA350092780CRYGDc.98G>C (p.Cys33Ser)
n.97+5041C>G
2g.208124266C>TCA350092781CRYGDc.98G>A (p.Cys33Tyr)
n.97+5041C>T
gnomAD v4
2g.208124267A>CCA350092782CRYGDc.97T>G (p.Cys33Gly)
n.97+5042A>C
2g.208124267A>GCA350092783CRYGDc.97T>C (p.Cys33Arg)
n.97+5042A>G
ClinVar dbSNP
2g.208124267A>TCA350092784CRYGDc.97T>A (p.Cys33Ser)
n.97+5042A>T
2g.208124268G>ACA430964655CRYGDc.96C>T (p.Arg32=)
n.97+5043G>A
2g.208124268G>CCA430964656CRYGDc.96C>G (p.Arg32=)
n.97+5043G>C
dbSNP gnomAD v2 gnomAD v4
2g.208124268G=CA1323928943CRYGDc.96C= (p.Arg32=)
n.97+5043G=
2g.208124268G>TCA430964657CRYGDc.96C>A (p.Arg32=)
n.97+5043G>T
2g.208124269C>ACA350092787CRYGDc.95G>T (p.Arg32Leu)
n.97+5044C>A
2g.208124269C=CA1323928944CRYGDc.95G= (p.Arg32=)
n.97+5044C=
2g.208124269C>GCA350092785CRYGDc.95G>C (p.Arg32Pro)
n.97+5044C>G
2g.208124269C>TCA350092786CRYGDc.95G>A (p.Arg32His)
n.97+5044C>T
dbSNP
2g.208124270G>ACA350092788CRYGDc.94C>T (p.Arg32Cys)
n.97+5045G>A
gnomAD v4 COSMIC
2g.208124270G>CCA350092789CRYGDc.94C>G (p.Arg32Gly)
n.97+5045G>C
2g.208124270G>TCA350092790CRYGDc.94C>A (p.Arg32Ser)
n.97+5045G>T
2g.208124271G>ACA430964658CRYGDc.93C>T (p.Ser31=)
n.97+5046G>A
gnomAD v4
2g.208124271G>CCA64607834CRYGDc.93C>G (p.Ser31Arg)
n.97+5046G>C
dbSNP
2g.208124271G=CA1323928945CRYGDc.93C= (p.Ser31=)
n.97+5046G=
2g.208124271G>TCA350092791CRYGDc.93C>A (p.Ser31Arg)
n.97+5046G>T
2g.208124272C>ACA350092792CRYGDc.92G>T (p.Ser31Ile)
n.97+5047C>A
COSMIC
2g.208124272C>GCA350092794CRYGDc.92G>C (p.Ser31Thr)
n.97+5047C>G
2g.208124272C>TCA350092793CRYGDc.92G>A (p.Ser31Asn)
n.97+5047C>T
2g.208124273T>ACA350092795CRYGDc.91A>T (p.Ser31Cys)
n.97+5048T>A
2g.208124273T>CCA350092796CRYGDc.91A>G (p.Ser31Gly)
n.97+5048T>C
2g.208124273T>GCA350092797CRYGDc.91A>C (p.Ser31Arg)
n.97+5048T>G

Number of alleles fetched