Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208129406_208129408delinsACTCA1323931352CRYGCc.252+33_252+35delinsAGT (n.252+33_252+35delinsAGT)
n.98-7650_98-7648delinsACT
c.123+33_123+35delinsAGT (n.123+33_123+35delinsAGT)
2g.208129409_208129410delCA539074885CRYGCc.252+33_252+34del (n.252+33_252+34del)
n.98-7647_98-7646del
c.123+33_123+34del (n.123+33_123+34del)
dbSNP gnomAD v2 gnomAD v4
2g.208129408T>CCA64611274CRYGCc.252+33A>G (n.252+33A>G)
n.98-7648T>C
c.123+33A>G (n.123+33A>G)
dbSNP gnomAD v3 gnomAD v4
2g.208129408T>GCA2077902CRYGCc.252+33A>C (n.252+33A>C)
n.98-7648T>G
c.123+33A>C (n.123+33A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129408T=CA1323931353CRYGCc.252+33A= (n.252+33A=)
n.98-7648T=
c.123+33A= (n.123+33A=)
2g.208129410T>ACA64611277CRYGCc.252+31A>T (n.252+31A>T)
n.98-7646T>A
c.123+31A>T (n.123+31A>T)
dbSNP
2g.208129410T>CCA539074886CRYGCc.252+31A>G (n.252+31A>G)
n.98-7646T>C
c.123+31A>G (n.123+31A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129410T=CA1323931354CRYGCc.252+31A= (n.252+31A=)
n.98-7646T=
c.123+31A= (n.123+31A=)
2g.208129411G>ACA763929108CRYGCc.252+30C>T (n.252+30C>T)
n.98-7645G>A
c.123+30C>T (n.123+30C>T)
dbSNP
2g.208129411G=CA1323931355CRYGCc.252+30C= (n.252+30C=)
n.98-7645G=
c.123+30C= (n.123+30C=)
2g.208129413C>ACA2077904CRYGCc.252+28G>T (n.252+28G>T)
n.98-7643C>A
c.123+28G>T (n.123+28G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129413C=CA1323931356CRYGCc.252+28G= (n.252+28G=)
n.98-7643C=
c.123+28G= (n.123+28G=)
2g.208129413C>TCA2077903CRYGCc.252+28G>A (n.252+28G>A)
n.98-7643C>T
c.123+28G>A (n.123+28G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129414G>ACA2077905CRYGCc.252+27C>T (n.252+27C>T)
n.98-7642G>A
c.123+27C>T (n.123+27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129414G=CA1323931357CRYGCc.252+27C= (n.252+27C=)
n.98-7642G=
c.123+27C= (n.123+27C=)
2g.208129414G>TCA2662869226CRYGCc.252+27C>A (n.252+27C>A)
n.98-7642G>T
c.123+27C>A (n.123+27C>A)
gnomAD v4
2g.208129415G>ACA539388964CRYGCc.252+26C>T (n.252+26C>T)
n.98-7641G>A
c.123+26C>T (n.123+26C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129415G>CCA539388965CRYGCc.252+26C>G (n.252+26C>G)
n.98-7641G>C
c.123+26C>G (n.123+26C>G)
dbSNP gnomAD v2
2g.208129415G=CA1323931358CRYGCc.252+26C= (n.252+26C=)
n.98-7641G=
c.123+26C= (n.123+26C=)
2g.208129415G>TCA2077906CRYGCc.252+26C>A (n.252+26C>A)
n.98-7641G>T
c.123+26C>A (n.123+26C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129417A>GCA2662869228CRYGCc.252+24T>C (n.252+24T>C)
n.98-7639A>G
c.123+24T>C (n.123+24T>C)
gnomAD v4
2g.208129418T>CCA2662869229CRYGCc.252+23A>G (n.252+23A>G)
n.98-7638T>C
c.123+23A>G (n.123+23A>G)
gnomAD v4
2g.208129420A>CCA2662869230CRYGCc.252+21T>G (n.252+21T>G)
n.98-7636A>C
c.123+21T>G (n.123+21T>G)
gnomAD v4
2g.208129421T>CCA2662869231CRYGCc.252+20A>G (n.252+20A>G)
n.98-7635T>C
c.123+20A>G (n.123+20A>G)
gnomAD v4
2g.208129425A=CA1323931359CRYGCc.252+16T= (n.252+16T=)
n.98-7631A=
c.123+16T= (n.123+16T=)
2g.208129425A>CCA2077907CRYGCc.252+16T>G (n.252+16T>G)
n.98-7631A>C
c.123+16T>G (n.123+16T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129426A=CA1323931360CRYGCc.252+15T= (n.252+15T=)
n.98-7630A=
c.123+15T= (n.123+15T=)
2g.208129426A>GCA2077908CRYGCc.252+15T>C (n.252+15T>C)
n.98-7630A>G
c.123+15T>C (n.123+15T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129427T>CCA2077909CRYGCc.252+14A>G (n.252+14A>G)
n.98-7629T>C
c.123+14A>G (n.123+14A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129427T=CA1323931361CRYGCc.252+14A= (n.252+14A=)
n.98-7629T=
c.123+14A= (n.123+14A=)
2g.208129428C>GCA2662869232CRYGCc.252+13G>C (n.252+13G>C)
n.98-7628C>G
c.123+13G>C (n.123+13G>C)
gnomAD v4
2g.208129429T>CCA1323931362CRYGCc.252+12A>G (n.252+12A>G)
n.98-7627T>C
c.123+12A>G (n.123+12A>G)
dbSNP
2g.208129429T=CA1323931363CRYGCc.252+12A= (n.252+12A=)
n.98-7627T=
c.123+12A= (n.123+12A=)
2g.208129435dupCA2843123370CRYGCc.252+9dup (n.252+9dup)
n.98-7621dup
c.123+9dup (n.123+9dup)
2g.208129433A=CA1323931364CRYGCc.252+8T= (n.252+8T=)
n.98-7623A=
c.123+8T= (n.123+8T=)
2g.208129433A>CCA2662869233CRYGCc.252+8T>G (n.252+8T>G)
n.98-7623A>C
c.123+8T>G (n.123+8T>G)
gnomAD v4
2g.208129433A>GCA539388966CRYGCc.252+8T>C (n.252+8T>C)
n.98-7623A>G
c.123+8T>C (n.123+8T>C)
dbSNP gnomAD v2 gnomAD v4
2g.208129435A>CCA2577225926CRYGCc.252+6T>G (n.252+6T>G)
n.98-7621A>C
c.123+6T>G (n.123+6T>G)
2g.208129436C=CA1323931365CRYGCc.252+5G= (n.252+5G=)
n.98-7620C=
c.123+5G= (n.123+5G=)
2g.208129436C>GCA1323931366CRYGCc.252+5G>C (n.252+5G>C)
n.98-7620C>G
c.123+5G>C (n.123+5G>C)
dbSNP
2g.208129436C>TCA539388967CRYGCc.252+5G>A (n.252+5G>A)
n.98-7620C>T
c.123+5G>A (n.123+5G>A)
dbSNP gnomAD v2 gnomAD v4
2g.208129439A=CA1323931367CRYGCc.252+2T= (n.252+2T=)
n.98-7617A=
c.123+2T= (n.123+2T=)
2g.208129439A>CCA350095949CRYGCc.252+2T>G (n.252+2T>G)
n.98-7617A>C
c.123+2T>G (n.123+2T>G)
2g.208129439A>GCA350095950CRYGCc.252+2T>C (n.252+2T>C)
n.98-7617A>G
c.123+2T>C (n.123+2T>C)
dbSNP gnomAD v4
2g.208129439A>TCA350095951CRYGCc.252+2T>A (n.252+2T>A)
n.98-7617A>T
c.123+2T>A (n.123+2T>A)
2g.208129440C>ACA350095954CRYGCc.252+1G>T (n.252+1G>T)
n.98-7616C>A
c.123+1G>T (n.123+1G>T)
2g.208129440C>GCA350095957CRYGCc.252+1G>C (n.252+1G>C)
n.98-7616C>G
c.123+1G>C (n.123+1G>C)
2g.208129440C>TCA350095958CRYGCc.252+1G>A (n.252+1G>A)
n.98-7616C>T
c.123+1G>A (n.123+1G>A)
2g.208129441T>ACA350095962CRYGCc.252A>T (p.Gln84His)
n.98-7615T>A
c.123A>T (p.Gln41His)
dbSNP gnomAD v3 gnomAD v4
2g.208129441T>CCA431116053CRYGCc.252A>G (p.Gln84=)
n.98-7615T>C
c.123A>G (p.Gln41=)
gnomAD v4
2g.208129441T>GCA350095964CRYGCc.252A>C (p.Gln84His)
n.98-7615T>G
c.123A>C (p.Gln41His)
2g.208129442T>ACA350095969CRYGCc.251A>T (p.Gln84Leu)
n.98-7614T>A
c.122A>T (p.Gln41Leu)
2g.208129442T>CCA350095972CRYGCc.251A>G (p.Gln84Arg)
n.98-7614T>C
c.122A>G (p.Gln41Arg)
COSMIC
2g.208129442T>GCA350095974CRYGCc.251A>C (p.Gln84Pro)
n.98-7614T>G
c.122A>C (p.Gln41Pro)
2g.208129443G>ACA350095977CRYGCc.250C>T (p.Gln84Ter)
n.98-7613G>A
c.121C>T (p.Gln41Ter)
gnomAD v4
2g.208129443G>CCA350095978CRYGCc.250C>G (p.Gln84Glu)
n.98-7613G>C
c.121C>G (p.Gln41Glu)
dbSNP gnomAD v4
2g.208129443G=CA1323931368CRYGCc.250C= (p.Gln84=)
n.98-7613G=
c.121C= (p.Gln41=)
2g.208129443G>TCA350095979CRYGCc.250C>A (p.Gln84Lys)
n.98-7613G>T
c.121C>A (p.Gln41Lys)
gnomAD v4
2g.208129447dupCA2838755435CRYGCc.250dup (p.Gln84ProfsTer24)
n.98-7609dup
c.121dup (p.Gln41ProfsTer24)
2g.208129447delCA431116055CRYGCc.250del (p.Gln84LysfsTer19)
n.98-7609del
c.121del (p.Gln41LysfsTer19)
2g.208129444G>ACA431116057CRYGCc.249C>T (p.Pro83=)
n.98-7612G>A
c.120C>T (p.Pro40=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129444G>CCA431116059CRYGCc.249C>G (p.Pro83=)
n.98-7612G>C
c.120C>G (p.Pro40=)
dbSNP
2g.208129444G=CA1323931369CRYGCc.249C= (p.Pro83=)
n.98-7612G=
c.120C= (p.Pro40=)
2g.208129444G>TCA431116060CRYGCc.249C>A (p.Pro83=)
n.98-7612G>T
c.120C>A (p.Pro40=)
2g.208129445G>ACA2077910CRYGCc.248C>T (p.Pro83Leu)
n.98-7611G>A
c.119C>T (p.Pro40Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129445G>CCA350095983CRYGCc.248C>G (p.Pro83Arg)
n.98-7611G>C
c.119C>G (p.Pro40Arg)
2g.208129445G=CA1323931370CRYGCc.248C= (p.Pro83=)
n.98-7611G=
c.119C= (p.Pro40=)
2g.208129445G>TCA350095988CRYGCc.248C>A (p.Pro83His)
n.98-7611G>T
c.119C>A (p.Pro40His)
2g.208129446G>ACA350095994CRYGCc.247C>T (p.Pro83Ser)
n.98-7610G>A
c.118C>T (p.Pro40Ser)
2g.208129446G>CCA350095996CRYGCc.247C>G (p.Pro83Ala)
n.98-7610G>C
c.118C>G (p.Pro40Ala)
2g.208129446G>TCA350096000CRYGCc.247C>A (p.Pro83Thr)
n.98-7610G>T
c.118C>A (p.Pro40Thr)
2g.208129447G>ACA64611323CRYGCc.246C>T (p.Ile82=)
n.98-7609G>A
c.117C>T (p.Ile39=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208129447G>CCA2077911CRYGCc.246C>G (p.Ile82Met)
n.98-7609G>C
c.117C>G (p.Ile39Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129447G=CA1323931371CRYGCc.246C= (p.Ile82=)
n.98-7609G=
c.117C= (p.Ile39=)
2g.208129447G>TCA431116067CRYGCc.246C>A (p.Ile82=)
n.98-7609G>T
c.117C>A (p.Ile39=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129447_208129448delinsGACA1323931372CRYGCc.245_246delinsTC (p.Ile82=)
n.98-7609_98-7608delinsGA
c.116_117delinsTC (p.Ile39=)
2g.208129448delCA539388968CRYGCc.245del (p.Ile82ThrfsTer21)
n.98-7608del
c.116del (p.Ile39ThrfsTer21)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129448A>CCA350096018CRYGCc.245T>G (p.Ile82Ser)
n.98-7608A>C
c.116T>G (p.Ile39Ser)
2g.208129448A>GCA350096011CRYGCc.245T>C (p.Ile82Thr)
n.98-7608A>G
c.116T>C (p.Ile39Thr)
2g.208129448A>TCA350096014CRYGCc.245T>A (p.Ile82Asn)
n.98-7608A>T
c.116T>A (p.Ile39Asn)
2g.208129449T>ACA350096024CRYGCc.244A>T (p.Ile82Phe)
n.98-7607T>A
c.115A>T (p.Ile39Phe)
2g.208129449T>CCA350096027CRYGCc.244A>G (p.Ile82Val)
n.98-7607T>C
c.115A>G (p.Ile39Val)
dbSNP
2g.208129449T>GCA350096037CRYGCc.244A>C (p.Ile82Leu)
n.98-7607T>G
c.115A>C (p.Ile39Leu)
gnomAD v4
2g.208129449T=CA1323931373CRYGCc.244A= (p.Ile82=)
n.98-7607T=
c.115A= (p.Ile39=)
2g.208129450G>ACA431116071CRYGCc.243C>T (p.Leu81=)
n.98-7606G>A
c.114C>T (p.Leu38=)
gnomAD v4
2g.208129450G>CCA431116073CRYGCc.243C>G (p.Leu81=)
n.98-7606G>C
c.114C>G (p.Leu38=)
2g.208129450G>TCA431116074CRYGCc.243C>A (p.Leu81=)
n.98-7606G>T
c.114C>A (p.Leu38=)
2g.208129451A=CA1323931374CRYGCc.242T= (p.Leu81=)
n.98-7605A=
c.113T= (p.Leu38=)
2g.208129451A>CCA350096051CRYGCc.242T>G (p.Leu81Arg)
n.98-7605A>C
c.113T>G (p.Leu38Arg)
2g.208129451A>GCA350096046CRYGCc.242T>C (p.Leu81Pro)
n.98-7605A>G
c.113T>C (p.Leu38Pro)
2g.208129451A>TCA64611327CRYGCc.242T>A (p.Leu81His)
n.98-7605A>T
c.113T>A (p.Leu38His)
dbSNP
2g.208129452G>ACA350096052CRYGCc.241C>T (p.Leu81Phe)
n.98-7604G>A
c.112C>T (p.Leu38Phe)
2g.208129452G>CCA350096056CRYGCc.241C>G (p.Leu81Val)
n.98-7604G>C
c.112C>G (p.Leu38Val)
2g.208129452G>TCA350096059CRYGCc.241C>A (p.Leu81Ile)
n.98-7604G>T
c.112C>A (p.Leu38Ile)
2g.208129453A=CA1323931375CRYGCc.240T= (p.Cys80=)
n.98-7603A=
c.111T= (p.Cys37=)
2g.208129453A>CCA350096062CRYGCc.240T>G (p.Cys80Trp)
n.98-7603A>C
c.111T>G (p.Cys37Trp)
2g.208129453A>GCA2077912CRYGCc.240T>C (p.Cys80=)
n.98-7603A>G
c.111T>C (p.Cys37=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129453A>TCA350096065CRYGCc.240T>A (p.Cys80Ter)
n.98-7603A>T
c.111T>A (p.Cys37Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129454C>ACA350096070CRYGCc.239G>T (p.Cys80Phe)
n.98-7602C>A
c.110G>T (p.Cys37Phe)
2g.208129454C=CA1323931376CRYGCc.239G= (p.Cys80=)
n.98-7602C=
c.110G= (p.Cys37=)
2g.208129454C>GCA2077913CRYGCc.239G>C (p.Cys80Ser)
n.98-7602C>G
c.110G>C (p.Cys37Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129454C>TCA350096073CRYGCc.239G>A (p.Cys80Tyr)
n.98-7602C>T
c.110G>A (p.Cys37Tyr)
2g.208129455A=CA1323931377CRYGCc.238T= (p.Cys80=)
n.98-7601A=
c.109T= (p.Cys37=)
2g.208129455A>CCA2077914CRYGCc.238T>G (p.Cys80Gly)
n.98-7601A>C
c.109T>G (p.Cys37Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129455A>GCA350096084CRYGCc.238T>C (p.Cys80Arg)
n.98-7601A>G
c.109T>C (p.Cys37Arg)
2g.208129455A>TCA350096086CRYGCc.238T>A (p.Cys80Ser)
n.98-7601A>T
c.109T>A (p.Cys37Ser)
2g.208129456A=CA1323931378CRYGCc.237T= (p.Cys79=)
n.98-7600A=
c.108T= (p.Cys36=)
2g.208129456A>CCA350096087CRYGCc.237T>G (p.Cys79Trp)
n.98-7600A>C
c.108T>G (p.Cys36Trp)
2g.208129456A>GCA431116083CRYGCc.237T>C (p.Cys79=)
n.98-7600A>G
c.108T>C (p.Cys36=)
dbSNP gnomAD v2 gnomAD v4
2g.208129456A>TCA2077915CRYGCc.237T>A (p.Cys79Ter)
n.98-7600A>T
c.108T>A (p.Cys36Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129457C>ACA350096089CRYGCc.236G>T (p.Cys79Phe)
n.98-7599C>A
c.107G>T (p.Cys36Phe)
2g.208129457C>GCA350096092CRYGCc.236G>C (p.Cys79Ser)
n.98-7599C>G
c.107G>C (p.Cys36Ser)
2g.208129457C>TCA350096094CRYGCc.236G>A (p.Cys79Tyr)
n.98-7599C>T
c.107G>A (p.Cys36Tyr)
2g.208129458A>CCA350096096CRYGCc.235T>G (p.Cys79Gly)
n.98-7598A>C
c.106T>G (p.Cys36Gly)
2g.208129458A>GCA350096099CRYGCc.235T>C (p.Cys79Arg)
n.98-7598A>G
c.106T>C (p.Cys36Arg)
2g.208129458A>TCA350096101CRYGCc.235T>A (p.Cys79Ser)
n.98-7598A>T
c.106T>A (p.Cys36Ser)
gnomAD v4
2g.208129459G>ACA431116089CRYGCc.234C>T (p.Ser78=)
n.98-7597G>A
c.105C>T (p.Ser35=)
gnomAD v4
2g.208129459G>CCA431116088CRYGCc.234C>G (p.Ser78=)
n.98-7597G>C
c.105C>G (p.Ser35=)
2g.208129459G>TCA431116087CRYGCc.234C>A (p.Ser78=)
n.98-7597G>T
c.105C>A (p.Ser35=)
2g.208129460G>ACA64611339CRYGCc.233C>T (p.Ser78Phe)
n.98-7596G>A
c.104C>T (p.Ser35Phe)
dbSNP
2g.208129460G>CCA350096108CRYGCc.233C>G (p.Ser78Cys)
n.98-7596G>C
c.104C>G (p.Ser35Cys)
2g.208129460G=CA1323931379CRYGCc.233C= (p.Ser78=)
n.98-7596G=
c.104C= (p.Ser35=)
2g.208129460G>TCA350096107CRYGCc.233C>A (p.Ser78Tyr)
n.98-7596G>T
c.104C>A (p.Ser35Tyr)
2g.208129461A>CCA350096109CRYGCc.232T>G (p.Ser78Ala)
n.98-7595A>C
c.103T>G (p.Ser35Ala)
2g.208129461A>GCA350096112CRYGCc.232T>C (p.Ser78Pro)
n.98-7595A>G
c.103T>C (p.Ser35Pro)
2g.208129461A>TCA350096110CRYGCc.232T>A (p.Ser78Thr)
n.98-7595A>T
c.103T>A (p.Ser35Thr)
2g.208129462G>ACA2077916CRYGCc.231C>T (p.Arg77=)
n.98-7594G>A
c.102C>T (p.Arg34=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129462G>CCA431116093CRYGCc.231C>G (p.Arg77=)
n.98-7594G>C
c.102C>G (p.Arg34=)
2g.208129462G=CA1323931380CRYGCc.231C= (p.Arg77=)
n.98-7594G=
c.102C= (p.Arg34=)
2g.208129462G>TCA431116094CRYGCc.231C>A (p.Arg77=)
n.98-7594G>T
c.102C>A (p.Arg34=)
2g.208129464_208129481delCA431116096CRYGCc.214_231del (p.Leu72_Arg77del)
n.98-7592_98-7575del
c.85_102del (p.Leu29_Arg34del)
2g.208129463C>ACA2077918CRYGCc.230G>T (p.Arg77Leu)
n.98-7593C>A
c.101G>T (p.Arg34Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129463C=CA1323931381CRYGCc.230G= (p.Arg77=)
n.98-7593C=
c.101G= (p.Arg34=)
2g.208129463C>GCA350096120CRYGCc.230G>C (p.Arg77Pro)
n.98-7593C>G
c.101G>C (p.Arg34Pro)
gnomAD v4
2g.208129463C>TCA2077917CRYGCc.230G>A (p.Arg77His)
n.98-7593C>T
c.101G>A (p.Arg34His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208129464G>ACA2077919CRYGCc.229C>T (p.Arg77Cys)
n.98-7592G>A
c.100C>T (p.Arg34Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.208129464G>CCA350096133CRYGCc.229C>G (p.Arg77Gly)
n.98-7592G>C
c.100C>G (p.Arg34Gly)
dbSNP gnomAD v3 gnomAD v4
2g.208129464G=CA1323931382CRYGCc.229C= (p.Arg77=)
n.98-7592G=
c.100C= (p.Arg34=)
2g.208129464G>TCA350096138CRYGCc.229C>A (p.Arg77Ser)
n.98-7592G>T
c.100C>A (p.Arg34Ser)
dbSNP
2g.208129465G>ACA431116103CRYGCc.228C>T (p.Ile76=)
n.98-7591G>A
c.99C>T (p.Ile33=)
2g.208129465G>CCA350096146CRYGCc.228C>G (p.Ile76Met)
n.98-7591G>C
c.99C>G (p.Ile33Met)
2g.208129465G>TCA431116104CRYGCc.228C>A (p.Ile76=)
n.98-7591G>T
c.99C>A (p.Ile33=)
2g.208129466A>CCA350096149CRYGCc.227T>G (p.Ile76Ser)
n.98-7590A>C
c.98T>G (p.Ile33Ser)
2g.208129466A>GCA350096151CRYGCc.227T>C (p.Ile76Thr)
n.98-7590A>G
c.98T>C (p.Ile33Thr)
COSMIC
2g.208129466A>TCA350096155CRYGCc.227T>A (p.Ile76Asn)
n.98-7590A>T
c.98T>A (p.Ile33Asn)
2g.208129467T>ACA350096161CRYGCc.226A>T (p.Ile76Phe)
n.98-7589T>A
c.97A>T (p.Ile33Phe)
2g.208129467T>CCA350096164CRYGCc.226A>G (p.Ile76Val)
n.98-7589T>C
c.97A>G (p.Ile33Val)
2g.208129467T>GCA350096166CRYGCc.226A>C (p.Ile76Leu)
n.98-7589T>G
c.97A>C (p.Ile33Leu)
2g.208129468G>ACA431116107CRYGCc.225C>T (p.Ser75=)
n.98-7588G>A
c.96C>T (p.Ser32=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208129468G>CCA431116109CRYGCc.225C>G (p.Ser75=)
n.98-7588G>C
c.96C>G (p.Ser32=)
2g.208129468G=CA1323931383CRYGCc.225C= (p.Ser75=)
n.98-7588G=
c.96C= (p.Ser32=)
2g.208129468G>TCA431116111CRYGCc.225C>A (p.Ser75=)
n.98-7588G>T
c.96C>A (p.Ser32=)
gnomAD v4
2g.208129469G>ACA350096167CRYGCc.224C>T (p.Ser75Phe)
n.98-7587G>A
c.95C>T (p.Ser32Phe)
2g.208129469G>CCA350096168CRYGCc.224C>G (p.Ser75Cys)
n.98-7587G>C
c.95C>G (p.Ser32Cys)
gnomAD v4
2g.208129469G>TCA350096169CRYGCc.224C>A (p.Ser75Tyr)
n.98-7587G>T
c.95C>A (p.Ser32Tyr)
gnomAD v4
2g.208129470A>CCA350096177CRYGCc.223T>G (p.Ser75Ala)
n.98-7586A>C
c.94T>G (p.Ser32Ala)
2g.208129470A>GCA350096175CRYGCc.223T>C (p.Ser75Pro)
n.98-7586A>G
c.94T>C (p.Ser32Pro)
2g.208129470A>TCA350096172CRYGCc.223T>A (p.Ser75Thr)
n.98-7586A>T
c.94T>A (p.Ser32Thr)
2g.208129471G>ACA431116115CRYGCc.222C>T (p.Asp74=)
n.98-7585G>A
c.93C>T (p.Asp31=)
dbSNP
2g.208129471G>CCA350096180CRYGCc.222C>G (p.Asp74Glu)
n.98-7585G>C
c.93C>G (p.Asp31Glu)
gnomAD v4
2g.208129471G=CA1323931384CRYGCc.222C= (p.Asp74=)
n.98-7585G=
c.93C= (p.Asp31=)
2g.208129471G>TCA350096183CRYGCc.222C>A (p.Asp74Glu)
n.98-7585G>T
c.93C>A (p.Asp31Glu)
2g.208129472T>ACA350096186CRYGCc.221A>T (p.Asp74Val)
n.98-7584T>A
c.92A>T (p.Asp31Val)
dbSNP
2g.208129472T>CCA350096188CRYGCc.221A>G (p.Asp74Gly)
n.98-7584T>C
c.92A>G (p.Asp31Gly)
2g.208129472T>GCA350096192CRYGCc.221A>C (p.Asp74Ala)
n.98-7584T>G
c.92A>C (p.Asp31Ala)
2g.208129472T=CA1323931385CRYGCc.221A= (p.Asp74=)
n.98-7584T=
c.92A= (p.Asp31=)
2g.208129473C>ACA350096195CRYGCc.220G>T (p.Asp74Tyr)
n.98-7583C>A
c.91G>T (p.Asp31Tyr)
2g.208129473C=CA1323931386CRYGCc.220G= (p.Asp74=)
n.98-7583C=
c.91G= (p.Asp31=)
2g.208129473C>GCA350096200CRYGCc.220G>C (p.Asp74His)
n.98-7583C>G
c.91G>C (p.Asp31His)
2g.208129473C>TCA2077920CRYGCc.220G>A (p.Asp74Asn)
n.98-7583C>T
c.91G>A (p.Asp31Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129474G>ACA2077921CRYGCc.219C>T (p.Ser73=)
n.98-7582G>A
c.90C>T (p.Ser30=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129474G>CCA350096210CRYGCc.219C>G (p.Ser73Arg)
n.98-7582G>C
c.90C>G (p.Ser30Arg)
dbSNP
2g.208129474G=CA1323931387CRYGCc.219C= (p.Ser73=)
n.98-7582G=
c.90C= (p.Ser30=)
2g.208129474G>TCA350096216CRYGCc.219C>A (p.Ser73Arg)
n.98-7582G>T
c.90C>A (p.Ser30Arg)
gnomAD v4
2g.208129475C>ACA350096219CRYGCc.218G>T (p.Ser73Ile)
n.98-7581C>A
c.89G>T (p.Ser30Ile)
2g.208129475C>GCA350096223CRYGCc.218G>C (p.Ser73Thr)
n.98-7581C>G
c.89G>C (p.Ser30Thr)
2g.208129475C>TCA350096226CRYGCc.218G>A (p.Ser73Asn)
n.98-7581C>T
c.89G>A (p.Ser30Asn)
gnomAD v4
2g.208129476T>ACA350096238CRYGCc.217A>T (p.Ser73Cys)
n.98-7580T>A
c.88A>T (p.Ser30Cys)
2g.208129476T>CCA350096234CRYGCc.217A>G (p.Ser73Gly)
n.98-7580T>C
c.88A>G (p.Ser30Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129476T>GCA64611366CRYGCc.217A>C (p.Ser73Arg)
n.98-7580T>G
c.88A>C (p.Ser30Arg)
dbSNP gnomAD v3 gnomAD v4
2g.208129476T=CA1323931388CRYGCc.217A= (p.Ser73=)
n.98-7580T=
c.88A= (p.Ser30=)
2g.208129477G>ACA2077922CRYGCc.216C>T (p.Leu72=)
n.98-7579G>A
c.87C>T (p.Leu29=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.208129477G>CCA431116126CRYGCc.216C>G (p.Leu72=)
n.98-7579G>C
c.87C>G (p.Leu29=)
2g.208129477G=CA1323931389CRYGCc.216C= (p.Leu72=)
n.98-7579G=
c.87C= (p.Leu29=)
2g.208129477G>TCA431116125CRYGCc.216C>A (p.Leu72=)
n.98-7579G>T
c.87C>A (p.Leu29=)
2g.208129478A>CCA350096239CRYGCc.215T>G (p.Leu72Arg)
n.98-7578A>C
c.86T>G (p.Leu29Arg)
2g.208129478A>GCA350096243CRYGCc.215T>C (p.Leu72Pro)
n.98-7578A>G
c.86T>C (p.Leu29Pro)
2g.208129478A>TCA350096247CRYGCc.215T>A (p.Leu72His)
n.98-7578A>T
c.86T>A (p.Leu29His)
2g.208129479G>ACA350096251CRYGCc.214C>T (p.Leu72Phe)
n.98-7577G>A
c.85C>T (p.Leu29Phe)
2g.208129479G>CCA350096254CRYGCc.214C>G (p.Leu72Val)
n.98-7577G>C
c.85C>G (p.Leu29Val)
dbSNP gnomAD v2
2g.208129479G=CA1323931390CRYGCc.214C= (p.Leu72=)
n.98-7577G=
c.85C= (p.Leu29=)
2g.208129479G>TCA350096258CRYGCc.214C>A (p.Leu72Ile)
n.98-7577G>T
c.85C>A (p.Leu29Ile)
2g.208129480G>ACA431116130CRYGCc.213C>T (p.Gly71=)
n.98-7576G>A
c.84C>T (p.Gly28=)
2g.208129480G>CCA431116132CRYGCc.213C>G (p.Gly71=)
n.98-7576G>C
c.84C>G (p.Gly28=)
2g.208129480G>TCA431116133CRYGCc.213C>A (p.Gly71=)
n.98-7576G>T
c.84C>A (p.Gly28=)
2g.208129481C>ACA350096263CRYGCc.212G>T (p.Gly71Val)
n.98-7575C>A
c.83G>T (p.Gly28Val)
ClinVar dbSNP COSMIC
2g.208129481C=CA1323931391CRYGCc.212G= (p.Gly71=)
n.98-7575C=
c.83G= (p.Gly28=)
2g.208129481C>GCA350096264CRYGCc.212G>C (p.Gly71Ala)
n.98-7575C>G
c.83G>C (p.Gly28Ala)
2g.208129481C>TCA350096265CRYGCc.212G>A (p.Gly71Asp)
n.98-7575C>T
c.83G>A (p.Gly28Asp)
2g.208129482C>ACA350096267CRYGCc.211G>T (p.Gly71Cys)
n.98-7574C>A
c.82G>T (p.Gly28Cys)
2g.208129482C>GCA350096269CRYGCc.211G>C (p.Gly71Arg)
n.98-7574C>G
c.82G>C (p.Gly28Arg)
2g.208129482C>TCA350096274CRYGCc.211G>A (p.Gly71Ser)
n.98-7574C>T
c.82G>A (p.Gly28Ser)
2g.208129483C>ACA350096302CRYGCc.210G>T (p.Met70Ile)
n.98-7573C>A
c.81G>T (p.Met27Ile)
2g.208129483C=CA1323931392CRYGCc.210G= (p.Met70=)
n.98-7573C=
c.81G= (p.Met27=)
2g.208129483C>GCA350096289CRYGCc.210G>C (p.Met70Ile)
n.98-7573C>G
c.81G>C (p.Met27Ile)
2g.208129483C>TCA350096292CRYGCc.210G>A (p.Met70Ile)
n.98-7573C>T
c.81G>A (p.Met27Ile)
dbSNP gnomAD v2 gnomAD v4
2g.208129484_208129486dupCA2662869236CRYGCc.208_210dup (p.Met70_Gly71insMet)
n.98-7572_98-7570dup
c.79_81dup (p.Met27_Gly28insMet)
gnomAD v4
2g.208129484_208129492delCA2662869237CRYGCc.202_210del (p.Gln68_Met70del)
n.98-7572_98-7564del
c.73_81del (p.Gln25_Met27del)
gnomAD v4
2g.208129484A>CCA350096305CRYGCc.209T>G (p.Met70Arg)
n.98-7572A>C
c.80T>G (p.Met27Arg)
gnomAD v4
2g.208129484A>GCA350096317CRYGCc.209T>C (p.Met70Thr)
n.98-7572A>G
c.80T>C (p.Met27Thr)
2g.208129484A>TCA350096320CRYGCc.209T>A (p.Met70Lys)
n.98-7572A>T
c.80T>A (p.Met27Lys)
2g.208129485T>ACA350096326CRYGCc.208A>T (p.Met70Leu)
n.98-7571T>A
c.79A>T (p.Met27Leu)
2g.208129485T>CCA350096336CRYGCc.208A>G (p.Met70Val)
n.98-7571T>C
c.79A>G (p.Met27Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129485T>GCA350096342CRYGCc.208A>C (p.Met70Leu)
n.98-7571T>G
c.79A>C (p.Met27Leu)
gnomAD v4
2g.208129485T=CA1323931393CRYGCc.208A= (p.Met70=)
n.98-7571T=
c.79A= (p.Met27=)
2g.208129486C>ACA350096348CRYGCc.207G>T (p.Trp69Cys)
n.98-7570C>A
c.78G>T (p.Trp26Cys)
2g.208129486C=CA1323931394CRYGCc.207G= (p.Trp69=)
n.98-7570C=
c.78G= (p.Trp26=)
2g.208129486C>GCA64611382CRYGCc.207G>C (p.Trp69Cys)
n.98-7570C>G
c.78G>C (p.Trp26Cys)
dbSNP gnomAD v4
2g.208129486C>TCA350096350CRYGCc.207G>A (p.Trp69Ter)
n.98-7570C>T
c.78G>A (p.Trp26Ter)
2g.208129487C>ACA350096354CRYGCc.206G>T (p.Trp69Leu)
n.98-7569C>A
c.77G>T (p.Trp26Leu)
2g.208129487C>GCA350096359CRYGCc.206G>C (p.Trp69Ser)
n.98-7569C>G
c.77G>C (p.Trp26Ser)
2g.208129487C>TCA350096371CRYGCc.206G>A (p.Trp69Ter)
n.98-7569C>T
c.77G>A (p.Trp26Ter)
2g.208129488A=CA1323931395CRYGCc.205T= (p.Trp69=)
n.98-7568A=
c.76T= (p.Trp26=)
2g.208129488A>CCA350096375CRYGCc.205T>G (p.Trp69Gly)
n.98-7568A>C
c.76T>G (p.Trp26Gly)
dbSNP
2g.208129488A>GCA350096389CRYGCc.205T>C (p.Trp69Arg)
n.98-7568A>G
c.76T>C (p.Trp26Arg)
gnomAD v4
2g.208129488A>TCA2077923CRYGCc.205T>A (p.Trp69Arg)
n.98-7568A>T
c.76T>A (p.Trp26Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129488_208129490delCA2662869238CRYGCc.203_205del (p.Gln68_Trp69delinsArg)
n.98-7568_98-7566del
c.74_76del (p.Gln25_Trp26delinsArg)
gnomAD v4
2g.208129489T>ACA350096422CRYGCc.204A>T (p.Gln68His)
n.98-7567T>A
c.75A>T (p.Gln25His)
2g.208129489T>CCA431116143CRYGCc.204A>G (p.Gln68=)
n.98-7567T>C
c.75A>G (p.Gln25=)
2g.208129489T>GCA350096431CRYGCc.204A>C (p.Gln68His)
n.98-7567T>G
c.75A>C (p.Gln25His)
2g.208129490T>ACA350096432CRYGCc.203A>T (p.Gln68Leu)
n.98-7566T>A
c.74A>T (p.Gln25Leu)
2g.208129490T>CCA350096433CRYGCc.203A>G (p.Gln68Arg)
n.98-7566T>C
c.74A>G (p.Gln25Arg)
2g.208129490T>GCA350096436CRYGCc.203A>C (p.Gln68Pro)
n.98-7566T>G
c.74A>C (p.Gln25Pro)
2g.208129491G>ACA350096442CRYGCc.202C>T (p.Gln68Ter)
n.98-7565G>A
c.73C>T (p.Gln25Ter)
2g.208129491G>CCA350096444CRYGCc.202C>G (p.Gln68Glu)
n.98-7565G>C
c.73C>G (p.Gln25Glu)
2g.208129491G>TCA350096448CRYGCc.202C>A (p.Gln68Lys)
n.98-7565G>T
c.73C>A (p.Gln25Lys)
gnomAD v4
2g.208129492C>ACA350096453CRYGCc.201G>T (p.Gln67His)
n.98-7564C>A
c.72G>T (p.Gln24His)
2g.208129492C>GCA350096456CRYGCc.201G>C (p.Gln67His)
n.98-7564C>G
c.72G>C (p.Gln24His)
2g.208129492C>TCA431116147CRYGCc.201G>A (p.Gln67=)
n.98-7564C>T
c.72G>A (p.Gln24=)
2g.208129493T>ACA350096465CRYGCc.200A>T (p.Gln67Leu)
n.98-7563T>A
c.71A>T (p.Gln24Leu)
2g.208129493T>CCA350096470CRYGCc.200A>G (p.Gln67Arg)
n.98-7563T>C
c.71A>G (p.Gln24Arg)
2g.208129493T>GCA350096484CRYGCc.200A>C (p.Gln67Pro)
n.98-7563T>G
c.71A>C (p.Gln24Pro)
2g.208129494G>ACA350096493CRYGCc.199C>T (p.Gln67Ter)
n.98-7562G>A
c.70C>T (p.Gln24Ter)
2g.208129494G>CCA350096492CRYGCc.199C>G (p.Gln67Glu)
n.98-7562G>C
c.70C>G (p.Gln24Glu)
2g.208129494G>TCA350096489CRYGCc.199C>A (p.Gln67Lys)
n.98-7562G>T
c.70C>A (p.Gln24Lys)
gnomAD v4
2g.208129495G>ACA431116150CRYGCc.198C>T (p.Tyr66=)
n.98-7561G>A
c.69C>T (p.Tyr23=)
2g.208129495G>CCA350096494CRYGCc.198C>G (p.Tyr66Ter)
n.98-7561G>C
c.69C>G (p.Tyr23Ter)
2g.208129495G>TCA350096496CRYGCc.198C>A (p.Tyr66Ter)
n.98-7561G>T
c.69C>A (p.Tyr23Ter)
2g.208129496T>ACA350096501CRYGCc.197A>T (p.Tyr66Phe)
n.98-7560T>A
c.68A>T (p.Tyr23Phe)
2g.208129496T>CCA350096504CRYGCc.197A>G (p.Tyr66Cys)
n.98-7560T>C
c.68A>G (p.Tyr23Cys)
2g.208129496T>GCA350096505CRYGCc.197A>C (p.Tyr66Ser)
n.98-7560T>G
c.68A>C (p.Tyr23Ser)
2g.208129497A>CCA350096506CRYGCc.196T>G (p.Tyr66Asp)
n.98-7559A>C
c.67T>G (p.Tyr23Asp)
2g.208129497A>GCA350096508CRYGCc.196T>C (p.Tyr66His)
n.98-7559A>G
c.67T>C (p.Tyr23His)
gnomAD v4
2g.208129497A>TCA350096511CRYGCc.196T>A (p.Tyr66Asn)
n.98-7559A>T
c.67T>A (p.Tyr23Asn)
2g.208129498G>ACA431116151CRYGCc.195C>T (p.Asp65=)
n.98-7558G>A
c.66C>T (p.Asp22=)
2g.208129498G>CCA350096519CRYGCc.195C>G (p.Asp65Glu)
n.98-7558G>C
c.66C>G (p.Asp22Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129498G=CA1323931396CRYGCc.195C= (p.Asp65=)
n.98-7558G=
c.66C= (p.Asp22=)
2g.208129498G>TCA350096521CRYGCc.195C>A (p.Asp65Glu)
n.98-7558G>T
c.66C>A (p.Asp22Glu)
2g.208129499T>ACA350096525CRYGCc.194A>T (p.Asp65Val)
n.98-7557T>A
c.65A>T (p.Asp22Val)
2g.208129499T>CCA350096528CRYGCc.194A>G (p.Asp65Gly)
n.98-7557T>C
c.65A>G (p.Asp22Gly)
dbSNP gnomAD v4
2g.208129499T>GCA350096531CRYGCc.194A>C (p.Asp65Ala)
n.98-7557T>G
c.65A>C (p.Asp22Ala)
2g.208129499T=CA1323931397CRYGCc.194A= (p.Asp65=)
n.98-7557T=
c.65A= (p.Asp22=)
2g.208129500delCA645372108CRYGCc.193del (p.Asp65ThrfsTer?)
n.98-7556del
c.64del (p.Asp22ThrfsTer?)
2g.208129500C>ACA350096540CRYGCc.193G>T (p.Asp65Tyr)
n.98-7556C>A
c.64G>T (p.Asp22Tyr)
2g.208129500C=CA1323931398CRYGCc.193G= (p.Asp65=)
n.98-7556C=
c.64G= (p.Asp22=)
2g.208129500C>GCA350096547CRYGCc.193G>C (p.Asp65His)
n.98-7556C>G
c.64G>C (p.Asp22His)
dbSNP
2g.208129500C>TCA2077924CRYGCc.193G>A (p.Asp65Asn)
n.98-7556C>T
c.64G>A (p.Asp22Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129501G>ACA2077925CRYGCc.192C>T (p.Pro64=)
n.98-7555G>A
c.63C>T (p.Pro21=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129501G>CCA431116155CRYGCc.192C>G (p.Pro64=)
n.98-7555G>C
c.63C>G (p.Pro21=)
2g.208129501G=CA1323931399CRYGCc.192C= (p.Pro64=)
n.98-7555G=
c.63C= (p.Pro21=)
2g.208129501G>TCA431116156CRYGCc.192C>A (p.Pro64=)
n.98-7555G>T
c.63C>A (p.Pro21=)
2g.208129504delCA2586971171CRYGCc.192del (p.Asp65ThrfsTer?)
n.98-7552del
c.63del (p.Asp22ThrfsTer?)
2g.208129502G>ACA350096556CRYGCc.191C>T (p.Pro64Leu)
n.98-7554G>A
c.62C>T (p.Pro21Leu)
2g.208129502G>CCA350096558CRYGCc.191C>G (p.Pro64Arg)
n.98-7554G>C
c.62C>G (p.Pro21Arg)
2g.208129502G>TCA350096559CRYGCc.191C>A (p.Pro64His)
n.98-7554G>T
c.62C>A (p.Pro21His)
2g.208129503G>ACA350096560CRYGCc.190C>T (p.Pro64Ser)
n.98-7553G>A
c.61C>T (p.Pro21Ser)
dbSNP gnomAD v4
2g.208129503G>CCA350096561CRYGCc.190C>G (p.Pro64Ala)
n.98-7553G>C
c.61C>G (p.Pro21Ala)
2g.208129503G=CA1323931400CRYGCc.190C= (p.Pro64=)
n.98-7553G=
c.61C= (p.Pro21=)
2g.208129503G>TCA2077926CRYGCc.190C>A (p.Pro64Thr)
n.98-7553G>T
c.61C>A (p.Pro21Thr)
dbSNP ExAC COSMIC
2g.208129504G>ACA431116158CRYGCc.189C>T (p.Tyr63=)
n.98-7552G>A
c.60C>T (p.Tyr20=)
2g.208129504G>CCA350096564CRYGCc.189C>G (p.Tyr63Ter)
n.98-7552G>C
c.60C>G (p.Tyr20Ter)
2g.208129504G>TCA350096567CRYGCc.189C>A (p.Tyr63Ter)
n.98-7552G>T
c.60C>A (p.Tyr20Ter)
2g.208129505T>ACA350096573CRYGCc.188A>T (p.Tyr63Phe)
n.98-7551T>A
c.59A>T (p.Tyr20Phe)
2g.208129505T>CCA350096584CRYGCc.188A>G (p.Tyr63Cys)
n.98-7551T>C
c.59A>G (p.Tyr20Cys)
2g.208129505T>GCA350096587CRYGCc.188A>C (p.Tyr63Ser)
n.98-7551T>G
c.59A>C (p.Tyr20Ser)
dbSNP
2g.208129505T=CA1323931401CRYGCc.188A= (p.Tyr63=)
n.98-7551T=
c.59A= (p.Tyr20=)
2g.208129506A=CA1323931402CRYGCc.187T= (p.Tyr63=)
n.98-7550A=
c.58T= (p.Tyr20=)
2g.208129506A>CCA350096622CRYGCc.187T>G (p.Tyr63Asp)
n.98-7550A>C
c.58T>G (p.Tyr20Asp)
dbSNP
2g.208129506A>GCA350096605CRYGCc.187T>C (p.Tyr63His)
n.98-7550A>G
c.58T>C (p.Tyr20His)
2g.208129506A>TCA350096618CRYGCc.187T>A (p.Tyr63Asn)
n.98-7550A>T
c.58T>A (p.Tyr20Asn)
2g.208129507C>ACA350096627CRYGCc.186G>T (p.Glu62Asp)
n.98-7549C>A
c.57G>T (p.Glu19Asp)
2g.208129507C>GCA350096628CRYGCc.186G>C (p.Glu62Asp)
n.98-7549C>G
c.57G>C (p.Glu19Asp)
2g.208129507C>TCA431116162CRYGCc.186G>A (p.Glu62=)
n.98-7549C>T
c.57G>A (p.Glu19=)
gnomAD v4
2g.208129508T>ACA350096629CRYGCc.185A>T (p.Glu62Val)
n.98-7548T>A
c.56A>T (p.Glu19Val)
COSMIC
2g.208129508T>CCA350096632CRYGCc.185A>G (p.Glu62Gly)
n.98-7548T>C
c.56A>G (p.Glu19Gly)
gnomAD v4
2g.208129508T>GCA350096635CRYGCc.185A>C (p.Glu62Ala)
n.98-7548T>G
c.56A>C (p.Glu19Ala)

Number of alleles fetched