Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.208124274C>ACA350092798CRYGDc.90G>T (p.Leu30Phe)
n.97+5049C>A
2g.208124274C=CA1323928946CRYGDc.90G= (p.Leu30=)
n.97+5049C=
2g.208124274C>GCA350092799CRYGDc.90G>C (p.Leu30Phe)
n.97+5049C>G
2g.208124274C>TCA430964659CRYGDc.90G>A (p.Leu30=)
n.97+5049C>T
dbSNP
2g.208124275A>CCA350092800CRYGDc.89T>G (p.Leu30Trp)
n.97+5050A>C
2g.208124275A>GCA350092801CRYGDc.89T>C (p.Leu30Ser)
n.97+5050A>G
2g.208124275A>TCA350092802CRYGDc.89T>A (p.Leu30Ter)
n.97+5050A>T
2g.208124276A>CCA350092803CRYGDc.88T>G (p.Leu30Val)
n.97+5051A>C
2g.208124276A>GCA430964660CRYGDc.88T>C (p.Leu30=)
n.97+5051A>G
gnomAD v4
2g.208124276A>TCA350092804CRYGDc.88T>A (p.Leu30Met)
n.97+5051A>T
2g.208124277G>ACA430964661CRYGDc.87C>T (p.Tyr29=)
n.97+5052G>A
gnomAD v4
2g.208124277G>CCA350092805CRYGDc.87C>G (p.Tyr29Ter)
n.97+5052G>C
2g.208124277G>TCA350092806CRYGDc.87C>A (p.Tyr29Ter)
n.97+5052G>T
2g.208124278_208124294delCA2662867811CRYGDc.71_87del (p.Pro24LeufsTer18)
n.97+5053_97+5069del
gnomAD v4
2g.208124278T>ACA350092809CRYGDc.86A>T (p.Tyr29Phe)
n.97+5053T>A
dbSNP gnomAD v2
2g.208124278T>CCA350092808CRYGDc.86A>G (p.Tyr29Cys)
n.97+5053T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124278T>GCA350092807CRYGDc.86A>C (p.Tyr29Ser)
n.97+5053T>G
2g.208124278T=CA1323928947CRYGDc.86A= (p.Tyr29=)
n.97+5053T=
2g.208124279A>CCA350092810CRYGDc.85T>G (p.Tyr29Asp)
n.97+5054A>C
2g.208124279A>GCA350092812CRYGDc.85T>C (p.Tyr29His)
n.97+5054A>G
gnomAD v4
2g.208124279A>TCA350092811CRYGDc.85T>A (p.Tyr29Asn)
n.97+5054A>T
2g.208124280G>ACA430964662CRYGDc.84C>T (p.Pro28=)
n.97+5055G>A
gnomAD v4
2g.208124280G>CCA430964663CRYGDc.84C>G (p.Pro28=)
n.97+5055G>C
2g.208124280G>TCA430964664CRYGDc.84C>A (p.Pro28=)
n.97+5055G>T
2g.208124281G>ACA350092813CRYGDc.83C>T (p.Pro28Leu)
n.97+5056G>A
dbSNP gnomAD v4
2g.208124281G>CCA350092815CRYGDc.83C>G (p.Pro28Arg)
n.97+5056G>C
2g.208124281G=CA1323928948CRYGDc.83C= (p.Pro28=)
n.97+5056G=
2g.208124281G>TCA350092814CRYGDc.83C>A (p.Pro28His)
n.97+5056G>T
2g.208124282G>ACA350092816CRYGDc.82C>T (p.Pro28Ser)
n.97+5057G>A
COSMIC
2g.208124282G>CCA350092817CRYGDc.82C>G (p.Pro28Ala)
n.97+5057G>C
2g.208124282G=CA1323928949CRYGDc.82C= (p.Pro28=)
n.97+5057G=
2g.208124282G>TCA350092818CRYGDc.82C>A (p.Pro28Thr)
n.97+5057G>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208124283C>ACA350092819CRYGDc.81G>T (p.Gln27His)
n.97+5058C>A
2g.208124283C=CA1323928950CRYGDc.81G= (p.Gln27=)
n.97+5058C=
2g.208124283C>GCA350092820CRYGDc.81G>C (p.Gln27His)
n.97+5058C>G
2g.208124283C>TCA2077737CRYGDc.81G>A (p.Gln27=)
n.97+5058C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124284T>ACA350092824CRYGDc.80A>T (p.Gln27Leu)
n.97+5059T>A
2g.208124284T>CCA350092826CRYGDc.80A>G (p.Gln27Arg)
n.97+5059T>C
2g.208124284T>GCA350092827CRYGDc.80A>C (p.Gln27Pro)
n.97+5059T>G
2g.208124285G>ACA350092830CRYGDc.79C>T (p.Gln27Ter)
n.97+5060G>A
2g.208124285G>CCA350092832CRYGDc.79C>G (p.Gln27Glu)
n.97+5060G>C
2g.208124285G>TCA350092834CRYGDc.79C>A (p.Gln27Lys)
n.97+5060G>T
gnomAD v4
2g.208124286C>ACA430964665CRYGDc.78G>T (p.Leu26=)
n.97+5061C>A
gnomAD v4
2g.208124286C>GCA430964666CRYGDc.78G>C (p.Leu26=)
n.97+5061C>G
2g.208124286C>TCA430964667CRYGDc.78G>A (p.Leu26=)
n.97+5061C>T
2g.208124287A=CA1323928951CRYGDc.77T= (p.Leu26=)
n.97+5062A=
2g.208124287A>CCA350092843CRYGDc.77T>G (p.Leu26Arg)
n.97+5062A>C
2g.208124287A>GCA350092838CRYGDc.77T>C (p.Leu26Pro)
n.97+5062A>G
2g.208124287A>TCA350092840CRYGDc.77T>A (p.Leu26Gln)
n.97+5062A>T
2g.208124288G>ACA430964668CRYGDc.76C>T (p.Leu26=)
n.97+5063G>A
2g.208124288G>CCA350092845CRYGDc.76C>G (p.Leu26Val)
n.97+5063G>C
2g.208124288G>TCA350092848CRYGDc.76C>A (p.Leu26Met)
n.97+5063G>T
2g.208124288_208124289insACCGCA539389074CRYGDc.76_77insGGTC (p.Leu26ArgfsTer23)
n.97+5063_97+5064insACCG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124289G>ACA64607838CRYGDc.75C>T (p.Asn25=)
n.97+5064G>A
dbSNP gnomAD v4
2g.208124289G>CCA350092850CRYGDc.75C>G (p.Asn25Lys)
n.97+5064G>C
2g.208124289G=CA1323928952CRYGDc.75C= (p.Asn25=)
n.97+5064G=
2g.208124289G>TCA350092853CRYGDc.75C>A (p.Asn25Lys)
n.97+5064G>T
2g.208124290T>ACA350092856CRYGDc.74A>T (p.Asn25Ile)
n.97+5065T>A
gnomAD v4
2g.208124290T>CCA350092857CRYGDc.74A>G (p.Asn25Ser)
n.97+5065T>C
dbSNP gnomAD v4
2g.208124290T>GCA350092859CRYGDc.74A>C (p.Asn25Thr)
n.97+5065T>G
2g.208124290T=CA1323928953CRYGDc.74A= (p.Asn25=)
n.97+5065T=
2g.208124290_208124294delinsTTGGGCA1323928954CRYGDc.70_74delinsCCCAA (p.Pro24=)
n.97+5065_97+5069delinsTTGGG
2g.208124291T>ACA350092862CRYGDc.73A>T (p.Asn25Tyr)
n.97+5066T>A
2g.208124291T>CCA350092864CRYGDc.73A>G (p.Asn25Asp)
n.97+5066T>C
dbSNP gnomAD v4
2g.208124291T>GCA350092866CRYGDc.73A>C (p.Asn25His)
n.97+5066T>G
2g.208124291T=CA1323928955CRYGDc.73A= (p.Asn25=)
n.97+5066T=
2g.208124291_208124294delCA539074509CRYGDc.70_73del (p.Pro24ThrfsTer6)
n.97+5066_97+5069del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124292G>ACA430964669CRYGDc.72C>T (p.Pro24=)
n.97+5067G>A
2g.208124292G>CCA430964670CRYGDc.72C>G (p.Pro24=)
n.97+5067G>C
2g.208124292G>TCA430964671CRYGDc.72C>A (p.Pro24=)
n.97+5067G>T
2g.208124295dupCA2662867812CRYGDc.72dup (p.Asn25GlnfsTer23)
n.97+5070dup
gnomAD v4
2g.208124293G>ACA350092874CRYGDc.71C>T (p.Pro24Leu)
n.97+5068G>A
2g.208124293G>CCA350092872CRYGDc.71C>G (p.Pro24Arg)
n.97+5068G>C
gnomAD v4
2g.208124293G>TCA350092870CRYGDc.71C>A (p.Pro24His)
n.97+5068G>T
gnomAD v4
2g.208124294G>ACA214966CRYGDc.70C>T (p.Pro24Ser)
n.97+5069G>A
ClinVar dbSNP
2g.208124294G>CCA350092877CRYGDc.70C>G (p.Pro24Ala)
n.97+5069G>C
2g.208124294G=CA1323928956CRYGDc.70C= (p.Pro24=)
n.97+5069G=
2g.208124294G>TCA214963CRYGDc.70C>A (p.Pro24Thr)
n.97+5069G>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208124294_208124296delinsGGTCA1323928957CRYGDc.68_70delinsACC (p.His23=)
n.97+5069_97+5071delinsGGT
2g.208124295G>ACA2077739CRYGDc.69C>T (p.His23=)
n.97+5070G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124295G>CCA350092884CRYGDc.69C>G (p.His23Gln)
n.97+5070G>C
2g.208124295G=CA1323928958CRYGDc.69C= (p.His23=)
n.97+5070G=
2g.208124295G>TCA350092885CRYGDc.69C>A (p.His23Gln)
n.97+5070G>T
2g.208124296_208124297delCA2077738CRYGDc.68_69del (p.His23ProfsTer24)
n.97+5071_97+5072del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124296T>ACA350092889CRYGDc.68A>T (p.His23Leu)
n.97+5071T>A
2g.208124296T>CCA350092892CRYGDc.68A>G (p.His23Arg)
n.97+5071T>C
2g.208124296T>GCA350092894CRYGDc.68A>C (p.His23Pro)
n.97+5071T>G
gnomAD v4
2g.208124297G>ACA350092897CRYGDc.67C>T (p.His23Tyr)
n.97+5072G>A
gnomAD v4
2g.208124297G>CCA350092898CRYGDc.67C>G (p.His23Asp)
n.97+5072G>C
2g.208124297G>TCA350092900CRYGDc.67C>A (p.His23Asn)
n.97+5072G>T
2g.208124298G>ACA430964672CRYGDc.66C>T (p.Asp22=)
n.97+5073G>A
2g.208124298G>CCA350092903CRYGDc.66C>G (p.Asp22Glu)
n.97+5073G>C
2g.208124298G>TCA350092905CRYGDc.66C>A (p.Asp22Glu)
n.97+5073G>T
2g.208124299T>ACA350092907CRYGDc.65A>T (p.Asp22Val)
n.97+5074T>A
2g.208124299T>CCA350092909CRYGDc.65A>G (p.Asp22Gly)
n.97+5074T>C
2g.208124299T>GCA350092911CRYGDc.65A>C (p.Asp22Ala)
n.97+5074T>G
2g.208124300C>ACA350092914CRYGDc.64G>T (p.Asp22Tyr)
n.97+5075C>A
gnomAD v4
2g.208124300C=CA1323928959CRYGDc.64G= (p.Asp22=)
n.97+5075C=
2g.208124300C>GCA2077740CRYGDc.64G>C (p.Asp22His)
n.97+5075C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124300C>TCA350092918CRYGDc.64G>A (p.Asp22Asn)
n.97+5075C>T
gnomAD v4
2g.208124301G>ACA2077741CRYGDc.63C>T (p.Ser21=)
n.97+5076G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124301G>CCA64607860CRYGDc.63C>G (p.Ser21Arg)
n.97+5076G>C
dbSNP
2g.208124301G=CA1323928960CRYGDc.63C= (p.Ser21=)
n.97+5076G=
2g.208124301G>TCA350092924CRYGDc.63C>A (p.Ser21Arg)
n.97+5076G>T
2g.208124302C>ACA350092927CRYGDc.62G>T (p.Ser21Ile)
n.97+5077C>A
gnomAD v4
2g.208124302C=CA1323928961CRYGDc.62G= (p.Ser21=)
n.97+5077C=
2g.208124302C>GCA350092929CRYGDc.62G>C (p.Ser21Thr)
n.97+5077C>G
2g.208124302C>TCA350092931CRYGDc.62G>A (p.Ser21Asn)
n.97+5077C>T
dbSNP gnomAD v3 gnomAD v4
2g.208124303T>ACA350092938CRYGDc.61A>T (p.Ser21Cys)
n.97+5078T>A
2g.208124303T>CCA350092936CRYGDc.61A>G (p.Ser21Gly)
n.97+5078T>C
gnomAD v4
2g.208124303T>GCA350092934CRYGDc.61A>C (p.Ser21Arg)
n.97+5078T>G
2g.208124304G>ACA430964673CRYGDc.60C>T (p.Ser20=)
n.97+5079G>A
2g.208124304G>CCA350092942CRYGDc.60C>G (p.Ser20Arg)
n.97+5079G>C
gnomAD v4
2g.208124304G>TCA350092940CRYGDc.60C>A (p.Ser20Arg)
n.97+5079G>T
2g.208124305C>ACA350092950CRYGDc.59G>T (p.Ser20Ile)
n.97+5080C>A
2g.208124305C=CA1323928962CRYGDc.59G= (p.Ser20=)
n.97+5080C=
2g.208124305C>GCA350092946CRYGDc.59G>C (p.Ser20Thr)
n.97+5080C>G
dbSNP gnomAD v3 gnomAD v4
2g.208124305C>TCA350092947CRYGDc.59G>A (p.Ser20Asn)
n.97+5080C>T
2g.208124306T>ACA350092952CRYGDc.58A>T (p.Ser20Cys)
n.97+5081T>A
2g.208124306T>CCA350092955CRYGDc.58A>G (p.Ser20Gly)
n.97+5081T>C
2g.208124306T>GCA350092957CRYGDc.58A>C (p.Ser20Arg)
n.97+5081T>G
2g.208124307G>ACA430964674CRYGDc.57C>T (p.Cys19=)
n.97+5082G>A
gnomAD v4
2g.208124307G>CCA350092960CRYGDc.57C>G (p.Cys19Trp)
n.97+5082G>C
2g.208124307G>TCA350092962CRYGDc.57C>A (p.Cys19Ter)
n.97+5082G>T
gnomAD v4
2g.208124308C>ACA350092963CRYGDc.56G>T (p.Cys19Phe)
n.97+5083C>A
gnomAD v4
2g.208124308C>GCA350092965CRYGDc.56G>C (p.Cys19Ser)
n.97+5083C>G
2g.208124308C>TCA350092968CRYGDc.56G>A (p.Cys19Tyr)
n.97+5083C>T
gnomAD v4
2g.208124309A>CCA350092971CRYGDc.55T>G (p.Cys19Gly)
n.97+5084A>C
2g.208124309A>GCA350092973CRYGDc.55T>C (p.Cys19Arg)
n.97+5084A>G
2g.208124309A>TCA350092975CRYGDc.55T>A (p.Cys19Ser)
n.97+5084A>T
2g.208124310T>ACA350092980CRYGDc.54A>T (p.Glu18Asp)
n.97+5085T>A
2g.208124310T>CCA64607865CRYGDc.54A>G (p.Glu18=)
n.97+5085T>C
dbSNP
2g.208124310T>GCA350092978CRYGDc.54A>C (p.Glu18Asp)
n.97+5085T>G
2g.208124310T=CA1323928963CRYGDc.54A= (p.Glu18=)
n.97+5085T=
2g.208124311T>ACA350092984CRYGDc.53A>T (p.Glu18Val)
n.97+5086T>A
2g.208124311T>CCA350092986CRYGDc.53A>G (p.Glu18Gly)
n.97+5086T>C
gnomAD v4
2g.208124311T>GCA350092988CRYGDc.53A>C (p.Glu18Ala)
n.97+5086T>G
2g.208124312C>ACA350092991CRYGDc.52G>T (p.Glu18Ter)
n.97+5087C>A
2g.208124312C>GCA350092993CRYGDc.52G>C (p.Glu18Gln)
n.97+5087C>G
2g.208124312C>TCA350092996CRYGDc.52G>A (p.Glu18Lys)
n.97+5087C>T
2g.208124313A=CA1323928964CRYGDc.51T= (p.Tyr17=)
n.97+5088A=
2g.208124313A>CCA350092999CRYGDc.51T>G (p.Tyr17Ter)
n.97+5088A>C
ClinVar dbSNP gnomAD v4
2g.208124313A>GCA2077742CRYGDc.51T>C (p.Tyr17=)
n.97+5088A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124313A>TCA350093003CRYGDc.51T>A (p.Tyr17Ter)
n.97+5088A>T
dbSNP gnomAD v4
2g.208124314T>ACA350093005CRYGDc.50A>T (p.Tyr17Phe)
n.97+5089T>A
2g.208124314T>CCA350093008CRYGDc.50A>G (p.Tyr17Cys)
n.97+5089T>C
gnomAD v4
2g.208124314T>GCA350093009CRYGDc.50A>C (p.Tyr17Ser)
n.97+5089T>G
2g.208124315A>CCA350093016CRYGDc.49T>G (p.Tyr17Asp)
n.97+5090A>C
2g.208124315A>GCA350093014CRYGDc.49T>C (p.Tyr17His)
n.97+5090A>G
2g.208124315A>TCA350093012CRYGDc.49T>A (p.Tyr17Asn)
n.97+5090A>T
2g.208124316G>ACA430964675CRYGDc.48C>T (p.His16=)
n.97+5091G>A
2g.208124316G>CCA350093018CRYGDc.48C>G (p.His16Gln)
n.97+5091G>C
2g.208124316G>TCA350093021CRYGDc.48C>A (p.His16Gln)
n.97+5091G>T
2g.208124317T>ACA350093023CRYGDc.47A>T (p.His16Leu)
n.97+5092T>A
dbSNP gnomAD v4
2g.208124317T>CCA350093026CRYGDc.47A>G (p.His16Arg)
n.97+5092T>C
gnomAD v4
2g.208124317T>GCA350093028CRYGDc.47A>C (p.His16Pro)
n.97+5092T>G
COSMIC
2g.208124317T=CA1323928965CRYGDc.47A= (p.His16=)
n.97+5092T=
2g.208124318G>ACA350093031CRYGDc.46C>T (p.His16Tyr)
n.97+5093G>A
2g.208124318G>CCA350093033CRYGDc.46C>G (p.His16Asp)
n.97+5093G>C
2g.208124318G=CA1323928966CRYGDc.46C= (p.His16=)
n.97+5093G=
2g.208124318G>TCA350093034CRYGDc.46C>A (p.His16Asn)
n.97+5093G>T
dbSNP
2g.208124319G>ACA430964676CRYGDc.45C>T (p.Arg15=)
n.97+5094G>A
dbSNP gnomAD v3 gnomAD v4
2g.208124319G>CCA2077743CRYGDc.45C>G (p.Arg15=)
n.97+5094G>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124319G=CA1323928967CRYGDc.45C= (p.Arg15=)
n.97+5094G=
2g.208124319G>TCA430964677CRYGDc.45C>A (p.Arg15=)
n.97+5094G>T
2g.208124320C>ACA350093040CRYGDc.44G>T (p.Arg15Leu)
n.97+5095C>A
gnomAD v4
2g.208124320C=CA1323928968CRYGDc.44G= (p.Arg15=)
n.97+5095C=
2g.208124320C>GCA350093043CRYGDc.44G>C (p.Arg15Pro)
n.97+5095C>G
2g.208124320C>TCA2077744CRYGDc.44G>A (p.Arg15His)
n.97+5095C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124321G>ACA214960CRYGDc.43C>T (p.Arg15Cys)
n.97+5096G>A
ClinVar dbSNP
2g.208124321G>CCA350093051CRYGDc.43C>G (p.Arg15Gly)
n.97+5096G>C
2g.208124321G=CA1323928969CRYGDc.43C= (p.Arg15=)
n.97+5096G=
2g.208124321G>TCA350093046CRYGDc.43C>A (p.Arg15Ser)
n.97+5096G>T
2g.208124322G>ACA430964678CRYGDc.42C>T (p.Gly14=)
n.97+5097G>A
2g.208124322G>CCA430964679CRYGDc.42C>G (p.Gly14=)
n.97+5097G>C
gnomAD v4
2g.208124322G>TCA430964680CRYGDc.42C>A (p.Gly14=)
n.97+5097G>T
gnomAD v4
2g.208124323C>ACA350093054CRYGDc.41G>T (p.Gly14Val)
n.97+5098C>A
gnomAD v4
2g.208124323C=CA1323928970CRYGDc.41G= (p.Gly14=)
n.97+5098C=
2g.208124323C>GCA2077745CRYGDc.41G>C (p.Gly14Ala)
n.97+5098C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124323C>TCA350093057CRYGDc.41G>A (p.Gly14Asp)
n.97+5098C>T
2g.208124324C>ACA350093059CRYGDc.40G>T (p.Gly14Cys)
n.97+5099C>A
2g.208124324C>GCA350093062CRYGDc.40G>C (p.Gly14Arg)
n.97+5099C>G
2g.208124324C>TCA350093063CRYGDc.40G>A (p.Gly14Ser)
n.97+5099C>T
gnomAD v4
2g.208124325C>ACA350093066CRYGDc.39G>T (p.Gln13His)
n.97+5100C>A
2g.208124325C=CA1323928971CRYGDc.39G= (p.Gln13=)
n.97+5100C=
2g.208124325C>GCA350093068CRYGDc.39G>C (p.Gln13His)
n.97+5100C>G
2g.208124325C>TCA64607905CRYGDc.39G>A (p.Gln13=)
n.97+5100C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124326T>ACA350093071CRYGDc.38A>T (p.Gln13Leu)
n.97+5101T>A
dbSNP gnomAD v2 gnomAD v4
2g.208124326T>CCA350093074CRYGDc.38A>G (p.Gln13Arg)
n.97+5101T>C
gnomAD v4
2g.208124326T>GCA350093076CRYGDc.38A>C (p.Gln13Pro)
n.97+5101T>G
2g.208124326T=CA1323928972CRYGDc.38A= (p.Gln13=)
n.97+5101T=
2g.208124327G>ACA350093079CRYGDc.37C>T (p.Gln13Ter)
n.97+5102G>A
gnomAD v4
2g.208124327G>CCA350093081CRYGDc.37C>G (p.Gln13Glu)
n.97+5102G>C
2g.208124327G>TCA350093083CRYGDc.37C>A (p.Gln13Lys)
n.97+5102G>T
2g.208124328delCA539074510CRYGDc.37del (p.Gln13ArgfsTer18)
n.97+5103del
gnomAD v2

Number of alleles fetched