Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208124095C=CA1323928844CRYGDc.252+17G= (n.252+17G=)
n.97+4870C=
2g.208124095C>TCA2077686CRYGDc.252+17G>A (n.252+17G>A)
n.97+4870C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124096T>CCA2662867579CRYGDc.252+16A>G (n.252+16A>G)
n.97+4871T>C
gnomAD v4
2g.208124098G>ACA2077688CRYGDc.252+14C>T (n.252+14C>T)
n.97+4873G>A
dbSNP ExAC gnomAD v2
2g.208124098G>CCA2662867582CRYGDc.252+14C>G (n.252+14C>G)
n.97+4873G>C
gnomAD v4
2g.208124098G=CA1323928845CRYGDc.252+14C= (n.252+14C=)
n.97+4873G=
2g.208124098G>TCA2077687CRYGDc.252+14C>A (n.252+14C>A)
n.97+4873G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124099A=CA1323928846CRYGDc.252+13T= (n.252+13T=)
n.97+4874A=
2g.208124099A>CCA763924305CRYGDc.252+13T>G (n.252+13T>G)
n.97+4874A>C
dbSNP
2g.208124105_208124121dupCA2077689CRYGDc.248_252+12dup
n.97+4880_97+4896dup
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124101G>CCA2662867585CRYGDc.252+11C>G (n.252+11C>G)
n.97+4876G>C
gnomAD v4
2g.208124101G>TCA2662867586CRYGDc.252+11C>A (n.252+11C>A)
n.97+4876G>T
gnomAD v4
2g.208124102A=CA1323928847CRYGDc.252+10T= (n.252+10T=)
n.97+4877A=
2g.208124102A>GCA2662867587CRYGDc.252+10T>C (n.252+10T>C)
n.97+4877A>G
gnomAD v4
2g.208124102A>TCA2077690CRYGDc.252+10T>A (n.252+10T>A)
n.97+4877A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124103T>CCA2077691CRYGDc.252+9A>G (n.252+9A>G)
n.97+4878T>C
dbSNP ExAC gnomAD v2
2g.208124103T>GCA1323928849CRYGDc.252+9A>C (n.252+9A>C)
n.97+4878T>G
dbSNP gnomAD v4
2g.208124103T=CA1323928848CRYGDc.252+9A= (n.252+9A=)
n.97+4878T=
2g.208124104G>ACA2662867596CRYGDc.252+8C>T (n.252+8C>T)
n.97+4879G>A
gnomAD v4
2g.208124105T>ACA2662867598CRYGDc.252+7A>T (n.252+7A>T)
n.97+4880T>A
gnomAD v4
2g.208124105T>CCA2077692CRYGDc.252+7A>G (n.252+7A>G)
n.97+4880T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124105T=CA1323928850CRYGDc.252+7A= (n.252+7A=)
n.97+4880T=
2g.208124107C=CA1323928852CRYGDc.252+5G= (n.252+5G=)
n.97+4882C=
2g.208124107C>GCA539389069CRYGDc.252+5G>C (n.252+5G>C)
n.97+4882C>G
dbSNP gnomAD v2 gnomAD v4
2g.208124107C>TCA1323928851CRYGDc.252+5G>A (n.252+5G>A)
n.97+4882C>T
dbSNP gnomAD v4
2g.208124108T>CCA430964564CRYGDc.252+4A>G (n.252+4A>G)
n.97+4883T>C
2g.208124109C=CA1323928853CRYGDc.252+3G= (n.252+3G=)
n.97+4884C=
2g.208124109C>TCA763924326CRYGDc.252+3G>A (n.252+3G>A)
n.97+4884C>T
dbSNP gnomAD v3 gnomAD v4
2g.208124110A>CCA350092449CRYGDc.252+2T>G (n.252+2T>G)
n.97+4885A>C
2g.208124110A>GCA350092450CRYGDc.252+2T>C (n.252+2T>C)
n.97+4885A>G
2g.208124110A>TCA350092448CRYGDc.252+2T>A (n.252+2T>A)
n.97+4885A>T
2g.208124111C>ACA2077693CRYGDc.252+1G>T (n.252+1G>T)
n.97+4886C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124111C=CA1323928854CRYGDc.252+1G= (n.252+1G=)
n.97+4886C=
2g.208124111C>GCA350092451CRYGDc.252+1G>C (n.252+1G>C)
n.97+4886C>G
gnomAD v4
2g.208124111C>TCA64607654CRYGDc.252+1G>A (n.252+1G>A)
n.97+4886C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124112G>ACA430964565CRYGDc.252C>T (p.His84=)
n.97+4887G>A
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208124112G>CCA350092452CRYGDc.252C>G (p.His84Gln)
n.97+4887G>C
ClinVar dbSNP
2g.208124112G=CA1323928855CRYGDc.252C= (p.His84=)
n.97+4887G=
2g.208124112G>TCA2077694CRYGDc.252C>A (p.His84Gln)
n.97+4887G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124113T>ACA350092454CRYGDc.251A>T (p.His84Leu)
n.97+4888T>A
2g.208124113T>CCA2077695CRYGDc.251A>G (p.His84Arg)
n.97+4888T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124113T>GCA350092453CRYGDc.251A>C (p.His84Pro)
n.97+4888T>G
2g.208124113T=CA1323928856CRYGDc.251A= (p.His84=)
n.97+4888T=
2g.208124113_208124115delinsTGGCA1323928857CRYGDc.249_251delinsCCA (p.Pro83=)
n.97+4888_97+4890delinsTGG
2g.208124114G>ACA2077696CRYGDc.250C>T (p.His84Tyr)
n.97+4889G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124114G>CCA2077697CRYGDc.250C>G (p.His84Asp)
n.97+4889G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124114G=CA1323928859CRYGDc.250C= (p.His84=)
n.97+4889G=
2g.208124114G>TCA350092455CRYGDc.250C>A (p.His84Asn)
n.97+4889G>T
gnomAD v4
2g.208124118delCA1323928858CRYGDc.250del (p.His84ThrfsTer19)
n.97+4893del
dbSNP
2g.208124117_208124118delCA763924346CRYGDc.249_250del (p.His84LeufsTer10)
n.97+4892_97+4893del
dbSNP gnomAD v3 gnomAD v4
2g.208124115G>ACA430964566CRYGDc.249C>T (p.Pro83=)
n.97+4890G>A
2g.208124115G>CCA430964567CRYGDc.249C>G (p.Pro83=)
n.97+4890G>C
2g.208124115G>TCA430964568CRYGDc.249C>A (p.Pro83=)
n.97+4890G>T
2g.208124116G>ACA350092456CRYGDc.248C>T (p.Pro83Leu)
n.97+4891G>A
dbSNP gnomAD v3 gnomAD v4
2g.208124116G>CCA350092457CRYGDc.248C>G (p.Pro83Arg)
n.97+4891G>C
gnomAD v4
2g.208124116G=CA1323928860CRYGDc.248C= (p.Pro83=)
n.97+4891G=
2g.208124116G>TCA350092458CRYGDc.248C>A (p.Pro83His)
n.97+4891G>T
2g.208124117G>ACA350092459CRYGDc.247C>T (p.Pro83Ser)
n.97+4892G>A
2g.208124117G>CCA350092461CRYGDc.247C>G (p.Pro83Ala)
n.97+4892G>C
2g.208124117G>TCA350092460CRYGDc.247C>A (p.Pro83Thr)
n.97+4892G>T
gnomAD v4
2g.208124118G>ACA430964570CRYGDc.246C>T (p.Ile82=)
n.97+4893G>A
dbSNP COSMIC
2g.208124118G>CCA350092462CRYGDc.246C>G (p.Ile82Met)
n.97+4893G>C
2g.208124118G=CA1323928861CRYGDc.246C= (p.Ile82=)
n.97+4893G=
2g.208124118G>TCA430964569CRYGDc.246C>A (p.Ile82=)
n.97+4893G>T
2g.208124118_208124119delinsGACA1323928862CRYGDc.245_246delinsTC (p.Ile82=)
n.97+4893_97+4894delinsGA
2g.208124119delCA2077698CRYGDc.245del (p.Ile82ThrfsTer21)
n.97+4894del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124119A>CCA350092463CRYGDc.245T>G (p.Ile82Ser)
n.97+4894A>C
2g.208124119A>GCA350092464CRYGDc.245T>C (p.Ile82Thr)
n.97+4894A>G
gnomAD v4
2g.208124119A>TCA350092465CRYGDc.245T>A (p.Ile82Asn)
n.97+4894A>T
gnomAD v4
2g.208124120delCA350092469CRYGDc.244del (p.Ile82SerfsTer21)
n.97+4895del
2g.208124120T>ACA350092466CRYGDc.244A>T (p.Ile82Phe)
n.97+4895T>A
2g.208124120T>CCA350092467CRYGDc.244A>G (p.Ile82Val)
n.97+4895T>C
2g.208124120T>GCA350092468CRYGDc.244A>C (p.Ile82Leu)
n.97+4895T>G
dbSNP
2g.208124120T=CA1323928863CRYGDc.244A= (p.Ile82=)
n.97+4895T=
2g.208124121G>ACA430964571CRYGDc.243C>T (p.Leu81=)
n.97+4896G>A
gnomAD v4
2g.208124121G>CCA430964572CRYGDc.243C>G (p.Leu81=)
n.97+4896G>C
2g.208124121G>TCA430964573CRYGDc.243C>A (p.Leu81=)
n.97+4896G>T
2g.208124122A>CCA350092470CRYGDc.242T>G (p.Leu81Arg)
n.97+4897A>C
2g.208124122A>GCA350092471CRYGDc.242T>C (p.Leu81Pro)
n.97+4897A>G
gnomAD v4
2g.208124122A>TCA350092472CRYGDc.242T>A (p.Leu81His)
n.97+4897A>T
2g.208124123G>ACA350092473CRYGDc.241C>T (p.Leu81Phe)
n.97+4898G>A
2g.208124123G>CCA2077699CRYGDc.241C>G (p.Leu81Val)
n.97+4898G>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124123G=CA1323928864CRYGDc.241C= (p.Leu81=)
n.97+4898G=
2g.208124123G>TCA350092474CRYGDc.241C>A (p.Leu81Ile)
n.97+4898G>T
2g.208124124G>ACA2077700CRYGDc.240C>T (p.Arg80=)
n.97+4899G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124124G>CCA430964574CRYGDc.240C>G (p.Arg80=)
n.97+4899G>C
2g.208124124G=CA1323928865CRYGDc.240C= (p.Arg80=)
n.97+4899G=
2g.208124124G>TCA430964575CRYGDc.240C>A (p.Arg80=)
n.97+4899G>T
2g.208124125delCA2701438391CRYGDc.239del (p.Arg80ProfsTer23)
n.97+4900del
dbSNP
2g.208124125C>ACA350092475CRYGDc.239G>T (p.Arg80Leu)
n.97+4900C>A
dbSNP gnomAD v2 gnomAD v4
2g.208124125C=CA1323928866CRYGDc.239G= (p.Arg80=)
n.97+4900C=
2g.208124125C>GCA350092476CRYGDc.239G>C (p.Arg80Pro)
n.97+4900C>G
2g.208124125C>TCA350092477CRYGDc.239G>A (p.Arg80His)
n.97+4900C>T
dbSNP gnomAD v2 gnomAD v4
2g.208124126G>ACA2077701CRYGDc.238C>T (p.Arg80Cys)
n.97+4901G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124126G>CCA350092478CRYGDc.238C>G (p.Arg80Gly)
n.97+4901G>C
2g.208124126G=CA1323928867CRYGDc.238C= (p.Arg80=)
n.97+4901G=
2g.208124126G>TCA350092479CRYGDc.238C>A (p.Arg80Ser)
n.97+4901G>T
2g.208124127G>ACA430964576CRYGDc.237C>T (p.Cys79=)
n.97+4902G>A
2g.208124127G>CCA350092481CRYGDc.237C>G (p.Cys79Trp)
n.97+4902G>C
2g.208124127G>TCA350092480CRYGDc.237C>A (p.Cys79Ter)
n.97+4902G>T
gnomAD v4
2g.208124128C>ACA350092482CRYGDc.236G>T (p.Cys79Phe)
n.97+4903C>A
2g.208124128C>GCA350092483CRYGDc.236G>C (p.Cys79Ser)
n.97+4903C>G
2g.208124128C>TCA350092484CRYGDc.236G>A (p.Cys79Tyr)
n.97+4903C>T
ClinVar
2g.208124129A>CCA350092485CRYGDc.235T>G (p.Cys79Gly)
n.97+4904A>C
2g.208124129A>GCA350092486CRYGDc.235T>C (p.Cys79Arg)
n.97+4904A>G
2g.208124129A>TCA350092487CRYGDc.235T>A (p.Cys79Ser)
n.97+4904A>T
2g.208124130G>ACA430964577CRYGDc.234C>T (p.Ser78=)
n.97+4905G>A
dbSNP gnomAD v4
2g.208124130G>CCA430964578CRYGDc.234C>G (p.Ser78=)
n.97+4905G>C
gnomAD v4
2g.208124130G=CA1323928868CRYGDc.234C= (p.Ser78=)
n.97+4905G=
2g.208124130G>TCA430964579CRYGDc.234C>A (p.Ser78=)
n.97+4905G>T
2g.208124131G>ACA350092488CRYGDc.233C>T (p.Ser78Phe)
n.97+4906G>A
ClinVar dbSNP
2g.208124131G>CCA350092490CRYGDc.233C>G (p.Ser78Cys)
n.97+4906G>C
2g.208124131G>TCA350092489CRYGDc.233C>A (p.Ser78Tyr)
n.97+4906G>T
2g.208124132A>CCA350092491CRYGDc.232T>G (p.Ser78Ala)
n.97+4907A>C
2g.208124132A>GCA350092492CRYGDc.232T>C (p.Ser78Pro)
n.97+4907A>G
2g.208124132A>TCA350092493CRYGDc.232T>A (p.Ser78Thr)
n.97+4907A>T
2g.208124133G>ACA430964580CRYGDc.231C>T (p.Arg77=)
n.97+4908G>A
2g.208124133G>CCA430964581CRYGDc.231C>G (p.Arg77=)
n.97+4908G>C
2g.208124133G>TCA430964582CRYGDc.231C>A (p.Arg77=)
n.97+4908G>T
2g.208124134C>ACA350092494CRYGDc.230G>T (p.Arg77Leu)
n.97+4909C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124134C=CA1323928869CRYGDc.230G= (p.Arg77=)
n.97+4909C=
2g.208124134C>GCA350092495CRYGDc.230G>C (p.Arg77Pro)
n.97+4909C>G
2g.208124134C>TCA350092496CRYGDc.230G>A (p.Arg77His)
n.97+4909C>T
gnomAD v4
2g.208124135G>ACA2077702CRYGDc.229C>T (p.Arg77Cys)
n.97+4910G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124135G>CCA350092497CRYGDc.229C>G (p.Arg77Gly)
n.97+4910G>C
2g.208124135G=CA1323928870CRYGDc.229C= (p.Arg77=)
n.97+4910G=
2g.208124135G>TCA350092498CRYGDc.229C>A (p.Arg77Ser)
n.97+4910G>T
dbSNP
2g.208124136G>ACA430964583CRYGDc.228C>T (p.Val76=)
n.97+4911G>A
2g.208124136G>CCA430964584CRYGDc.228C>G (p.Val76=)
n.97+4911G>C
2g.208124136G>TCA430964585CRYGDc.228C>A (p.Val76=)
n.97+4911G>T
2g.208124137A=CA1323928871CRYGDc.227T= (p.Val76=)
n.97+4912A=
2g.208124137A>CCA350092499CRYGDc.227T>G (p.Val76Gly)
n.97+4912A>C
dbSNP
2g.208124137A>GCA350092500CRYGDc.227T>C (p.Val76Ala)
n.97+4912A>G
gnomAD v4
2g.208124137A>TCA350092501CRYGDc.227T>A (p.Val76Asp)
n.97+4912A>T
2g.208124138C>ACA350092504CRYGDc.226G>T (p.Val76Phe)
n.97+4913C>A
2g.208124138C>GCA350092502CRYGDc.226G>C (p.Val76Leu)
n.97+4913C>G
2g.208124138C>TCA350092503CRYGDc.226G>A (p.Val76Ile)
n.97+4913C>T
2g.208124139C>ACA430964588CRYGDc.225G>T (p.Ser75=)
n.97+4914C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124139C=CA1323928872CRYGDc.225G= (p.Ser75=)
n.97+4914C=
2g.208124139C>GCA430964587CRYGDc.225G>C (p.Ser75=)
n.97+4914C>G
gnomAD v4
2g.208124139C>TCA430964586CRYGDc.225G>A (p.Ser75=)
n.97+4914C>T
gnomAD v4
2g.208124140G>ACA350092505CRYGDc.224C>T (p.Ser75Leu)
n.97+4915G>A
2g.208124140G>CCA350092506CRYGDc.224C>G (p.Ser75Trp)
n.97+4915G>C
dbSNP gnomAD v4
2g.208124140G=CA1323928873CRYGDc.224C= (p.Ser75=)
n.97+4915G=
2g.208124140G>TCA350092507CRYGDc.224C>A (p.Ser75Ter)
n.97+4915G>T
gnomAD v4
2g.208124141A>CCA350092508CRYGDc.223T>G (p.Ser75Ala)
n.97+4916A>C
gnomAD v4
2g.208124141A>GCA350092509CRYGDc.223T>C (p.Ser75Pro)
n.97+4916A>G
ClinVar
2g.208124141A>TCA350092510CRYGDc.223T>A (p.Ser75Thr)
n.97+4916A>T
2g.208124142G>ACA430964589CRYGDc.222C>T (p.Asp74=)
n.97+4917G>A
2g.208124142G>CCA350092511CRYGDc.222C>G (p.Asp74Glu)
n.97+4917G>C
dbSNP
2g.208124142G=CA1323928874CRYGDc.222C= (p.Asp74=)
n.97+4917G=
2g.208124142G>TCA350092512CRYGDc.222C>A (p.Asp74Glu)
n.97+4917G>T
2g.208124143T>ACA350092513CRYGDc.221A>T (p.Asp74Val)
n.97+4918T>A
2g.208124143T>CCA350092514CRYGDc.221A>G (p.Asp74Gly)
n.97+4918T>C
2g.208124143T>GCA350092515CRYGDc.221A>C (p.Asp74Ala)
n.97+4918T>G
2g.208124144C>ACA2077703CRYGDc.220G>T (p.Asp74Tyr)
n.97+4919C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208124144C=CA1323928875CRYGDc.220G= (p.Asp74=)
n.97+4919C=
2g.208124144C>GCA350092516CRYGDc.220G>C (p.Asp74His)
n.97+4919C>G
2g.208124144C>TCA350092517CRYGDc.220G>A (p.Asp74Asn)
n.97+4919C>T
gnomAD v4 COSMIC
2g.208124145G>ACA430964590CRYGDc.219C>T (p.Ser73=)
n.97+4920G>A
2g.208124145G>CCA2077704CRYGDc.219C>G (p.Ser73Arg)
n.97+4920G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124145G=CA1323928876CRYGDc.219C= (p.Ser73=)
n.97+4920G=
2g.208124145G>TCA350092518CRYGDc.219C>A (p.Ser73Arg)
n.97+4920G>T
dbSNP gnomAD v2
2g.208124146C>ACA350092519CRYGDc.218G>T (p.Ser73Ile)
n.97+4921C>A
2g.208124146C>GCA350092520CRYGDc.218G>C (p.Ser73Thr)
n.97+4921C>G
2g.208124146C>TCA350092521CRYGDc.218G>A (p.Ser73Asn)
n.97+4921C>T
2g.208124147T>ACA350092522CRYGDc.217A>T (p.Ser73Cys)
n.97+4922T>A
2g.208124147T>CCA350092523CRYGDc.217A>G (p.Ser73Gly)
n.97+4922T>C
2g.208124147T>GCA350092524CRYGDc.217A>C (p.Ser73Arg)
n.97+4922T>G
2g.208124148G>ACA430964591CRYGDc.216C>T (p.Leu72=)
n.97+4923G>A
gnomAD v4
2g.208124148G>CCA430964592CRYGDc.216C>G (p.Leu72=)
n.97+4923G>C
2g.208124148G>TCA430964593CRYGDc.216C>A (p.Leu72=)
n.97+4923G>T
gnomAD v4
2g.208124149A>CCA350092525CRYGDc.215T>G (p.Leu72Arg)
n.97+4924A>C
2g.208124149A>GCA350092526CRYGDc.215T>C (p.Leu72Pro)
n.97+4924A>G
dbSNP
2g.208124149A>TCA350092527CRYGDc.215T>A (p.Leu72His)
n.97+4924A>T
2g.208124150G>ACA350092528CRYGDc.214C>T (p.Leu72Phe)
n.97+4925G>A
2g.208124150G>CCA350092529CRYGDc.214C>G (p.Leu72Val)
n.97+4925G>C
2g.208124150G>TCA350092530CRYGDc.214C>A (p.Leu72Ile)
n.97+4925G>T
2g.208124150_208124166delCA2662867688CRYGDc.198_214del (p.Gln68ArgfsTer21)
n.97+4925_97+4941del
gnomAD v4
2g.208124151G>ACA430964594CRYGDc.213C>T (p.Gly71=)
n.97+4926G>A
2g.208124151G>CCA430964596CRYGDc.213C>G (p.Gly71=)
n.97+4926G>C
2g.208124151G=CA1323928877CRYGDc.213C= (p.Gly71=)
n.97+4926G=
2g.208124151G>TCA430964595CRYGDc.213C>A (p.Gly71=)
n.97+4926G>T
2g.208124152C>ACA350092531CRYGDc.212G>T (p.Gly71Val)
n.97+4927C>A
2g.208124152C>GCA350092533CRYGDc.212G>C (p.Gly71Ala)
n.97+4927C>G
2g.208124152C>TCA350092532CRYGDc.212G>A (p.Gly71Asp)
n.97+4927C>T
2g.208124154dupCA539389070CRYGDc.212dup (p.Leu72ProfsTer23)
n.97+4929dup
dbSNP gnomAD v2 gnomAD v4
2g.208124153C>ACA350092534CRYGDc.211G>T (p.Gly71Cys)
n.97+4928C>A
2g.208124153C>GCA350092536CRYGDc.211G>C (p.Gly71Arg)
n.97+4928C>G
gnomAD v4
2g.208124153C>TCA350092535CRYGDc.211G>A (p.Gly71Ser)
n.97+4928C>T
2g.208124154C>ACA350092537CRYGDc.210G>T (p.Met70Ile)
n.97+4929C>A
2g.208124154C>GCA350092538CRYGDc.210G>C (p.Met70Ile)
n.97+4929C>G
2g.208124154C>TCA350092539CRYGDc.210G>A (p.Met70Ile)
n.97+4929C>T
2g.208124155A=CA1323928878CRYGDc.209T= (p.Met70=)
n.97+4930A=
2g.208124155A>CCA350092540CRYGDc.209T>G (p.Met70Arg)
n.97+4930A>C
2g.208124155A>GCA2077705CRYGDc.209T>C (p.Met70Thr)
n.97+4930A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124155A>TCA350092541CRYGDc.209T>A (p.Met70Lys)
n.97+4930A>T
2g.208124156T>ACA350092542CRYGDc.208A>T (p.Met70Leu)
n.97+4931T>A
2g.208124156T>CCA350092543CRYGDc.208A>G (p.Met70Val)
n.97+4931T>C
2g.208124156T>GCA350092544CRYGDc.208A>C (p.Met70Leu)
n.97+4931T>G
2g.208124157C>ACA350092545CRYGDc.207G>T (p.Trp69Cys)
n.97+4932C>A
2g.208124157C>GCA350092546CRYGDc.207G>C (p.Trp69Cys)
n.97+4932C>G
2g.208124157C>TCA350092547CRYGDc.207G>A (p.Trp69Ter)
n.97+4932C>T
gnomAD v4
2g.208124158C>ACA350092549CRYGDc.206G>T (p.Trp69Leu)
n.97+4933C>A
2g.208124158C=CA1323928879CRYGDc.206G= (p.Trp69=)
n.97+4933C=
2g.208124158C>GCA350092548CRYGDc.206G>C (p.Trp69Ser)
n.97+4933C>G
2g.208124158C>TCA64607685CRYGDc.206G>A (p.Trp69Ter)
n.97+4933C>T
dbSNP gnomAD v4
2g.208124159A=CA1323928880CRYGDc.205T= (p.Trp69=)
n.97+4934A=
2g.208124159A>CCA350092550CRYGDc.205T>G (p.Trp69Gly)
n.97+4934A>C
2g.208124159A>GCA350092551CRYGDc.205T>C (p.Trp69Arg)
n.97+4934A>G
dbSNP gnomAD v2 gnomAD v4
2g.208124159A>TCA350092552CRYGDc.205T>A (p.Trp69Arg)
n.97+4934A>T
2g.208124160C>ACA350092553CRYGDc.204G>T (p.Gln68His)
n.97+4935C>A
2g.208124160C=CA1323928881CRYGDc.204G= (p.Gln68=)
n.97+4935C=
2g.208124160C>GCA350092554CRYGDc.204G>C (p.Gln68His)
n.97+4935C>G
2g.208124160C>TCA430964598CRYGDc.204G>A (p.Gln68=)
n.97+4935C>T
dbSNP gnomAD v2 gnomAD v4
2g.208124161T>ACA350092555CRYGDc.203A>T (p.Gln68Leu)
n.97+4936T>A
2g.208124161T>CCA350092556CRYGDc.203A>G (p.Gln68Arg)
n.97+4936T>C
gnomAD v4
2g.208124161T>GCA64607688CRYGDc.203A>C (p.Gln68Pro)
n.97+4936T>G
dbSNP gnomAD v3 gnomAD v4
2g.208124161T=CA1323928882CRYGDc.203A= (p.Gln68=)
n.97+4936T=
2g.208124162G>ACA350092557CRYGDc.202C>T (p.Gln68Ter)
n.97+4937G>A
2g.208124162G>CCA350092558CRYGDc.202C>G (p.Gln68Glu)
n.97+4937G>C
2g.208124162G>TCA350092559CRYGDc.202C>A (p.Gln68Lys)
n.97+4937G>T
2g.208124163C>ACA350092560CRYGDc.201G>T (p.Gln67His)
n.97+4938C>A
gnomAD v4
2g.208124163C=CA1323928883CRYGDc.201G= (p.Gln67=)
n.97+4938C=
2g.208124163C>GCA350092561CRYGDc.201G>C (p.Gln67His)
n.97+4938C>G
dbSNP
2g.208124163C>TCA430964599CRYGDc.201G>A (p.Gln67=)
n.97+4938C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208124164T>ACA350092562CRYGDc.200A>T (p.Gln67Leu)
n.97+4939T>A
2g.208124164T>CCA350092563CRYGDc.200A>G (p.Gln67Arg)
n.97+4939T>C
dbSNP
2g.208124164T>GCA350092564CRYGDc.200A>C (p.Gln67Pro)
n.97+4939T>G
2g.208124164T=CA1323928884CRYGDc.200A= (p.Gln67=)
n.97+4939T=
2g.208124165G>ACA2077706CRYGDc.199C>T (p.Gln67Ter)
n.97+4940G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208124165G>CCA350092565CRYGDc.199C>G (p.Gln67Glu)
n.97+4940G>C
2g.208124165G=CA1323928885CRYGDc.199C= (p.Gln67=)
n.97+4940G=
2g.208124165G>TCA350092566CRYGDc.199C>A (p.Gln67Lys)
n.97+4940G>T
2g.208124166G>ACA430964600CRYGDc.198C>T (p.His66=)
n.97+4941G>A
2g.208124166G>CCA350092567CRYGDc.198C>G (p.His66Gln)
n.97+4941G>C
gnomAD v4
2g.208124166G>TCA350092568CRYGDc.198C>A (p.His66Gln)
n.97+4941G>T
2g.208124167T>ACA350092569CRYGDc.197A>T (p.His66Leu)
n.97+4942T>A
2g.208124167T>CCA350092570CRYGDc.197A>G (p.His66Arg)
n.97+4942T>C
2g.208124167T>GCA350092571CRYGDc.197A>C (p.His66Pro)
n.97+4942T>G
dbSNP gnomAD v3 gnomAD v4
2g.208124167T=CA1323928886CRYGDc.197A= (p.His66=)
n.97+4942T=
2g.208124168G>ACA350092572CRYGDc.196C>T (p.His66Tyr)
n.97+4943G>A
2g.208124168G>CCA350092573CRYGDc.196C>G (p.His66Asp)
n.97+4943G>C
2g.208124168G>TCA350092574CRYGDc.196C>A (p.His66Asn)
n.97+4943G>T
2g.208124169G>ACA430964601CRYGDc.195C>T (p.Asp65=)
n.97+4944G>A
2g.208124169G>CCA350092575CRYGDc.195C>G (p.Asp65Glu)
n.97+4944G>C
2g.208124169G>TCA350092576CRYGDc.195C>A (p.Asp65Glu)
n.97+4944G>T
2g.208124170T>ACA350092577CRYGDc.194A>T (p.Asp65Val)
n.97+4945T>A
2g.208124170T>CCA350092578CRYGDc.194A>G (p.Asp65Gly)
n.97+4945T>C
2g.208124170T>GCA350092579CRYGDc.194A>C (p.Asp65Ala)
n.97+4945T>G
2g.208124171C>ACA350092580CRYGDc.193G>T (p.Asp65Tyr)
n.97+4946C>A
gnomAD v4
2g.208124171C>GCA350092581CRYGDc.193G>C (p.Asp65His)
n.97+4946C>G
2g.208124171C>TCA350092582CRYGDc.193G>A (p.Asp65Asn)
n.97+4946C>T
ClinVar gnomAD v4 COSMIC
2g.208124172G>ACA430964602CRYGDc.192C>T (p.Ala64=)
n.97+4947G>A
2g.208124172G>CCA2077707CRYGDc.192C>G (p.Ala64=)
n.97+4947G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208124172G=CA1323928887CRYGDc.192C= (p.Ala64=)
n.97+4947G=
2g.208124172G>TCA2077708CRYGDc.192C>A (p.Ala64=)
n.97+4947G>T
dbSNP ExAC gnomAD v2 gnomAD v4
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

Number of alleles fetched