Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched