Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.208129509C>ACA350096641CRYGCc.184G>T (p.Glu62Ter)
n.98-7547C>A
c.55G>T (p.Glu19Ter)
2g.208129509C=CA1323931403CRYGCc.184G= (p.Glu62=)
n.98-7547C=
c.55G= (p.Glu19=)
2g.208129509C>GCA350096645CRYGCc.184G>C (p.Glu62Gln)
n.98-7547C>G
c.55G>C (p.Glu19Gln)
2g.208129509C>TCA350096649CRYGCc.184G>A (p.Glu62Lys)
n.98-7547C>T
c.55G>A (p.Glu19Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208129510C>ACA431116166CRYGCc.183G>T (p.Gly61=)
n.98-7546C>A
c.54G>T (p.Gly18=)
2g.208129510C=CA1323931404CRYGCc.183G= (p.Gly61=)
n.98-7546C=
c.54G= (p.Gly18=)
2g.208129510C>GCA431116167CRYGCc.183G>C (p.Gly61=)
n.98-7546C>G
c.54G>C (p.Gly18=)
2g.208129510C>TCA431116168CRYGCc.183G>A (p.Gly61=)
n.98-7546C>T
c.54G>A (p.Gly18=)
dbSNP
2g.208129511C>ACA350096655CRYGCc.182G>T (p.Gly61Val)
n.98-7545C>A
c.53G>T (p.Gly18Val)
2g.208129511C>GCA350096659CRYGCc.182G>C (p.Gly61Ala)
n.98-7545C>G
c.53G>C (p.Gly18Ala)
2g.208129511C>TCA350096662CRYGCc.182G>A (p.Gly61Glu)
n.98-7545C>T
c.53G>A (p.Gly18Glu)
gnomAD v4
2g.208129512C>ACA350096677CRYGCc.181G>T (p.Gly61Trp)
n.98-7544C>A
c.52G>T (p.Gly18Trp)
2g.208129512C=CA1323931405CRYGCc.181G= (p.Gly61=)
n.98-7544C=
c.52G= (p.Gly18=)
2g.208129512C>GCA350096671CRYGCc.181G>C (p.Gly61Arg)
n.98-7544C>G
c.52G>C (p.Gly18Arg)
2g.208129512C>TCA2077927CRYGCc.181G>A (p.Gly61Arg)
n.98-7544C>T
c.52G>A (p.Gly18Arg)
dbSNP ExAC gnomAD v2
2g.208129513T>ACA431116170CRYGCc.180A>T (p.Arg60=)
n.98-7543T>A
c.51A>T (p.Arg17=)
2g.208129513T>CCA431116171CRYGCc.180A>G (p.Arg60=)
n.98-7543T>C
c.51A>G (p.Arg17=)
2g.208129513T>GCA431116172CRYGCc.180A>C (p.Arg60=)
n.98-7543T>G
c.51A>C (p.Arg17=)
gnomAD v4
2g.208129514delCA2586971172CRYGCc.179del (p.Arg60GlnfsTer?)
n.98-7542del
c.50del (p.Arg17GlnfsTer?)
2g.208129514C>ACA350096682CRYGCc.179G>T (p.Arg60Leu)
n.98-7542C>A
c.50G>T (p.Arg17Leu)
2g.208129514C=CA1323931406CRYGCc.179G= (p.Arg60=)
n.98-7542C=
c.50G= (p.Arg17=)
2g.208129514C>GCA350096691CRYGCc.179G>C (p.Arg60Pro)
n.98-7542C>G
c.50G>C (p.Arg17Pro)
2g.208129514C>TCA2077928CRYGCc.179G>A (p.Arg60Gln)
n.98-7542C>T
c.50G>A (p.Arg17Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129515G>ACA2077929CRYGCc.178C>T (p.Arg60Ter)
n.98-7541G>A
c.49C>T (p.Arg17Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208129515G>CCA350096704CRYGCc.178C>G (p.Arg60Gly)
n.98-7541G>C
c.49C>G (p.Arg17Gly)
2g.208129515G=CA1323931407CRYGCc.178C= (p.Arg60=)
n.98-7541G=
c.49C= (p.Arg17=)
2g.208129515G>TCA2077930CRYGCc.178C>A (p.Arg60=)
n.98-7541G>T
c.49C>A (p.Arg17=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129516C>ACA431116175CRYGCc.177G>T (p.Arg59=)
n.98-7540C>A
c.48G>T (p.Arg16=)
2g.208129516C>GCA431116176CRYGCc.177G>C (p.Arg59=)
n.98-7540C>G
c.48G>C (p.Arg16=)
2g.208129516C>TCA431116177CRYGCc.177G>A (p.Arg59=)
n.98-7540C>T
c.48G>A (p.Arg16=)
2g.208129517C>ACA350096706CRYGCc.176G>T (p.Arg59Leu)
n.98-7539C>A
c.47G>T (p.Arg16Leu)
2g.208129517C=CA1323931408CRYGCc.176G= (p.Arg59=)
n.98-7539C=
c.47G= (p.Arg16=)
2g.208129517C>GCA350096712CRYGCc.176G>C (p.Arg59Pro)
n.98-7539C>G
c.47G>C (p.Arg16Pro)
2g.208129517C>TCA2077931CRYGCc.176G>A (p.Arg59Gln)
n.98-7539C>T
c.47G>A (p.Arg16Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129518G>ACA350096722CRYGCc.175C>T (p.Arg59Trp)
n.98-7538G>A
c.46C>T (p.Arg16Trp)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208129518G>CCA350096727CRYGCc.175C>G (p.Arg59Gly)
n.98-7538G>C
c.46C>G (p.Arg16Gly)
2g.208129518G=CA1323931409CRYGCc.175C= (p.Arg59=)
n.98-7538G=
c.46C= (p.Arg16=)
2g.208129518G>TCA431116181CRYGCc.175C>A (p.Arg59=)
n.98-7538G>T
c.46C>A (p.Arg16=)
2g.208129519C>ACA431116182CRYGCc.174G>T (p.Leu58=)
n.98-7537C>A
c.45G>T (p.Leu15=)
2g.208129519C>GCA431116183CRYGCc.174G>C (p.Leu58=)
n.98-7537C>G
c.45G>C (p.Leu15=)
2g.208129519C>TCA431116184CRYGCc.174G>A (p.Leu58=)
n.98-7537C>T
c.45G>A (p.Leu15=)
2g.208129520A>CCA350096736CRYGCc.173T>G (p.Leu58Arg)
n.98-7536A>C
c.44T>G (p.Leu15Arg)
2g.208129520A>GCA350096740CRYGCc.173T>C (p.Leu58Pro)
n.98-7536A>G
c.44T>C (p.Leu15Pro)
2g.208129520A>TCA350096747CRYGCc.173T>A (p.Leu58Gln)
n.98-7536A>T
c.44T>A (p.Leu15Gln)
2g.208129521G>ACA431116186CRYGCc.172C>T (p.Leu58=)
n.98-7535G>A
c.43C>T (p.Leu15=)
2g.208129521G>CCA350096752CRYGCc.172C>G (p.Leu58Val)
n.98-7535G>C
c.43C>G (p.Leu15Val)
gnomAD v4
2g.208129521G>TCA350096757CRYGCc.172C>A (p.Leu58Met)
n.98-7535G>T
c.43C>A (p.Leu15Met)
2g.208129522C>ACA350096770CRYGCc.171G>T (p.Leu57Phe)
n.98-7534C>A
c.42G>T (p.Leu14Phe)
2g.208129522C>GCA350096763CRYGCc.171G>C (p.Leu57Phe)
n.98-7534C>G
c.42G>C (p.Leu14Phe)
gnomAD v4
2g.208129522C>TCA431116187CRYGCc.171G>A (p.Leu57=)
n.98-7534C>T
c.42G>A (p.Leu14=)
2g.208129523A>CCA350096774CRYGCc.170T>G (p.Leu57Trp)
n.98-7533A>C
c.41T>G (p.Leu14Trp)
2g.208129523A>GCA350096778CRYGCc.170T>C (p.Leu57Ser)
n.98-7533A>G
c.41T>C (p.Leu14Ser)
2g.208129523A>TCA350096796CRYGCc.170T>A (p.Leu57Ter)
n.98-7533A>T
c.41T>A (p.Leu14Ter)
2g.208129524A=CA1323931410CRYGCc.169T= (p.Leu57=)
n.98-7532A=
c.40T= (p.Leu14=)
2g.208129524A>CCA350096805CRYGCc.169T>G (p.Leu57Val)
n.98-7532A>C
c.40T>G (p.Leu14Val)
dbSNP gnomAD v2 gnomAD v4
2g.208129524A>GCA431116188CRYGCc.169T>C (p.Leu57=)
n.98-7532A>G
c.40T>C (p.Leu14=)
2g.208129524A>TCA350096808CRYGCc.169T>A (p.Leu57Met)
n.98-7532A>T
c.40T>A (p.Leu14Met)
2g.208129525G>ACA2077932CRYGCc.168C>T (p.Tyr56=)
n.98-7531G>A
c.39C>T (p.Tyr13=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129525G>CCA350096816CRYGCc.168C>G (p.Tyr56Ter)
n.98-7531G>C
c.39C>G (p.Tyr13Ter)
2g.208129525G=CA1323931411CRYGCc.168C= (p.Tyr56=)
n.98-7531G=
c.39C= (p.Tyr13=)
2g.208129525G>TCA350096820CRYGCc.168C>A (p.Tyr56Ter)
n.98-7531G>T
c.39C>A (p.Tyr13Ter)
2g.208129526T>ACA64611445CRYGCc.167A>T (p.Tyr56Phe)
n.98-7530T>A
c.38A>T (p.Tyr13Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129526T>CCA350096831CRYGCc.167A>G (p.Tyr56Cys)
n.98-7530T>C
c.38A>G (p.Tyr13Cys)
dbSNP gnomAD v2 gnomAD v4
2g.208129526T>GCA350096834CRYGCc.167A>C (p.Tyr56Ser)
n.98-7530T>G
c.38A>C (p.Tyr13Ser)
dbSNP
2g.208129526T=CA1323931412CRYGCc.167A= (p.Tyr56=)
n.98-7530T=
c.38A= (p.Tyr13=)
2g.208129527A>CCA350096864CRYGCc.166T>G (p.Tyr56Asp)
n.98-7529A>C
c.37T>G (p.Tyr13Asp)
2g.208129527A>GCA350096865CRYGCc.166T>C (p.Tyr56His)
n.98-7529A>G
c.37T>C (p.Tyr13His)
2g.208129527A>TCA350096855CRYGCc.166T>A (p.Tyr56Asn)
n.98-7529A>T
c.37T>A (p.Tyr13Asn)
2g.208129528T>ACA350096866CRYGCc.165A>T (p.Gln55His)
n.98-7528T>A
c.36A>T (p.Gln12His)
dbSNP gnomAD v2 gnomAD v4
2g.208129528T>CCA431116191CRYGCc.165A>G (p.Gln55=)
n.98-7528T>C
c.36A>G (p.Gln12=)
dbSNP gnomAD v3 gnomAD v4
2g.208129528T>GCA350096868CRYGCc.165A>C (p.Gln55His)
n.98-7528T>G
c.36A>C (p.Gln12His)
2g.208129528T=CA1323931413CRYGCc.165A= (p.Gln55=)
n.98-7528T=
c.36A= (p.Gln12=)
2g.208129529T>ACA350096873CRYGCc.164A>T (p.Gln55Leu)
n.98-7527T>A
c.35A>T (p.Gln12Leu)
2g.208129529T>CCA2077933CRYGCc.164A>G (p.Gln55Arg)
n.98-7527T>C
c.35A>G (p.Gln12Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129529T>GCA350096880CRYGCc.164A>C (p.Gln55Pro)
n.98-7527T>G
c.35A>C (p.Gln12Pro)
dbSNP gnomAD v2 gnomAD v4
2g.208129529T=CA1323931414CRYGCc.164A= (p.Gln55=)
n.98-7527T=
c.35A= (p.Gln12=)
2g.208129530G>ACA350096893CRYGCc.163C>T (p.Gln55Ter)
n.98-7526G>A
c.34C>T (p.Gln12Ter)
dbSNP gnomAD v3 gnomAD v4
2g.208129530G>CCA350096890CRYGCc.163C>G (p.Gln55Glu)
n.98-7526G>C
c.34C>G (p.Gln12Glu)
2g.208129530G=CA1323931415CRYGCc.163C= (p.Gln55=)
n.98-7526G=
c.34C= (p.Gln12=)
2g.208129530G>TCA350096892CRYGCc.163C>A (p.Gln55Lys)
n.98-7526G>T
c.34C>A (p.Gln12Lys)
2g.208129531T>ACA350096896CRYGCc.162A>T (p.Gln54His)
n.98-7525T>A
c.33A>T (p.Gln11His)
2g.208129531T>CCA431116195CRYGCc.162A>G (p.Gln54=)
n.98-7525T>C
c.33A>G (p.Gln11=)
2g.208129531T>GCA350096898CRYGCc.162A>C (p.Gln54His)
n.98-7525T>G
c.33A>C (p.Gln11His)
2g.208129532T>ACA350096902CRYGCc.161A>T (p.Gln54Leu)
n.98-7524T>A
c.32A>T (p.Gln11Leu)
2g.208129532T>CCA350096911CRYGCc.161A>G (p.Gln54Arg)
n.98-7524T>C
c.32A>G (p.Gln11Arg)
2g.208129532T>GCA350096915CRYGCc.161A>C (p.Gln54Pro)
n.98-7524T>G
c.32A>C (p.Gln11Pro)
2g.208129533G>ACA350096921CRYGCc.160C>T (p.Gln54Ter)
n.98-7523G>A
c.31C>T (p.Gln11Ter)
COSMIC
2g.208129533G>CCA350096928CRYGCc.160C>G (p.Gln54Glu)
n.98-7523G>C
c.31C>G (p.Gln11Glu)
2g.208129533G>TCA350096924CRYGCc.160C>A (p.Gln54Lys)
n.98-7523G>T
c.31C>A (p.Gln11Lys)
2g.208129534A=CA1323931416CRYGCc.159T= (p.Gly53=)
n.98-7522A=
c.30T= (p.Gly10=)
2g.208129534A>CCA431116199CRYGCc.159T>G (p.Gly53=)
n.98-7522A>C
c.30T>G (p.Gly10=)
2g.208129534A>GCA431116200CRYGCc.159T>C (p.Gly53=)
n.98-7522A>G
c.30T>C (p.Gly10=)
gnomAD v4
2g.208129534A>TCA2077934CRYGCc.159T>A (p.Gly53=)
n.98-7522A>T
c.30T>A (p.Gly10=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129535C>ACA350096947CRYGCc.158G>T (p.Gly53Val)
n.98-7521C>A
c.29G>T (p.Gly10Val)
2g.208129535C>GCA350096962CRYGCc.158G>C (p.Gly53Ala)
n.98-7521C>G
c.29G>C (p.Gly10Ala)
2g.208129535C>TCA350096970CRYGCc.158G>A (p.Gly53Asp)
n.98-7521C>T
c.29G>A (p.Gly10Asp)
2g.208129536C>ACA350096975CRYGCc.157G>T (p.Gly53Cys)
n.98-7520C>A
c.28G>T (p.Gly10Cys)
2g.208129536C=CA1323931417CRYGCc.157G= (p.Gly53=)
n.98-7520C=
c.28G= (p.Gly10=)
2g.208129536C>GCA350096979CRYGCc.157G>C (p.Gly53Arg)
n.98-7520C>G
c.28G>C (p.Gly10Arg)
2g.208129536C>TCA350096982CRYGCc.157G>A (p.Gly53Ser)
n.98-7520C>T
c.28G>A (p.Gly10Ser)
dbSNP gnomAD v2 gnomAD v4
2g.208129537T>ACA350096985CRYGCc.156A>T (p.Gln52His)
n.98-7519T>A
c.27A>T (p.Gln9His)
gnomAD v4
2g.208129537T>CCA431116202CRYGCc.156A>G (p.Gln52=)
n.98-7519T>C
c.27A>G (p.Gln9=)
2g.208129537T>GCA350096988CRYGCc.156A>C (p.Gln52His)
n.98-7519T>G
c.27A>C (p.Gln9His)
2g.208129538T>ACA350096996CRYGCc.155A>T (p.Gln52Leu)
n.98-7518T>A
c.26A>T (p.Gln9Leu)
2g.208129538T>CCA350096998CRYGCc.155A>G (p.Gln52Arg)
n.98-7518T>C
c.26A>G (p.Gln9Arg)
dbSNP
2g.208129538T>GCA350097010CRYGCc.155A>C (p.Gln52Pro)
n.98-7518T>G
c.26A>C (p.Gln9Pro)
ClinVar dbSNP
2g.208129538T=CA1323931418CRYGCc.155A= (p.Gln52=)
n.98-7518T=
c.26A= (p.Gln9=)
2g.208129539G>ACA350097012CRYGCc.154C>T (p.Gln52Ter)
n.98-7517G>A
c.25C>T (p.Gln9Ter)
gnomAD v4
2g.208129539G>CCA350097017CRYGCc.154C>G (p.Gln52Glu)
n.98-7517G>C
c.25C>G (p.Gln9Glu)
2g.208129539G=CA1323931419CRYGCc.154C= (p.Gln52=)
n.98-7517G=
c.25C= (p.Gln9=)
2g.208129539G>TCA350097011CRYGCc.154C>A (p.Gln52Lys)
n.98-7517G>T
c.25C>A (p.Gln9Lys)
dbSNP gnomAD v2 gnomAD v4
2g.208129540G>ACA431116203CRYGCc.153C>T (p.Tyr51=)
n.98-7516G>A
c.24C>T (p.Tyr8=)
2g.208129540G>CCA350097019CRYGCc.153C>G (p.Tyr51Ter)
n.98-7516G>C
c.24C>G (p.Tyr8Ter)
2g.208129540G>TCA350097018CRYGCc.153C>A (p.Tyr51Ter)
n.98-7516G>T
c.24C>A (p.Tyr8Ter)
2g.208129541T>ACA350097021CRYGCc.152A>T (p.Tyr51Phe)
n.98-7515T>A
c.23A>T (p.Tyr8Phe)
2g.208129541T>CCA2077935CRYGCc.152A>G (p.Tyr51Cys)
n.98-7515T>C
c.23A>G (p.Tyr8Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129541T>GCA350097027CRYGCc.152A>C (p.Tyr51Ser)
n.98-7515T>G
c.23A>C (p.Tyr8Ser)
2g.208129541T=CA1323931420CRYGCc.152A= (p.Tyr51=)
n.98-7515T=
c.23A= (p.Tyr8=)
2g.208129542A>CCA350097043CRYGCc.151T>G (p.Tyr51Asp)
n.98-7514A>C
c.22T>G (p.Tyr8Asp)
2g.208129542A>GCA350097045CRYGCc.151T>C (p.Tyr51His)
n.98-7514A>G
c.22T>C (p.Tyr8His)
2g.208129542A>TCA350097048CRYGCc.151T>A (p.Tyr51Asn)
n.98-7514A>T
c.22T>A (p.Tyr8Asn)
2g.208129543G>ACA431116207CRYGCc.150C>T (p.Asn50=)
n.98-7513G>A
c.21C>T (p.Asn7=)
gnomAD v4
2g.208129543G>CCA350097050CRYGCc.150C>G (p.Asn50Lys)
n.98-7513G>C
c.21C>G (p.Asn7Lys)
2g.208129543G>TCA350097052CRYGCc.150C>A (p.Asn50Lys)
n.98-7513G>T
c.21C>A (p.Asn7Lys)
2g.208129544T>ACA350097055CRYGCc.149A>T (p.Asn50Ile)
n.98-7512T>A
c.20A>T (p.Asn7Ile)
gnomAD v4
2g.208129544T>CCA2077936CRYGCc.149A>G (p.Asn50Ser)
n.98-7512T>C
c.20A>G (p.Asn7Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129544T>GCA350097061CRYGCc.149A>C (p.Asn50Thr)
n.98-7512T>G
c.20A>C (p.Asn7Thr)
2g.208129544T=CA1323931421CRYGCc.149A= (p.Asn50=)
n.98-7512T=
c.20A= (p.Asn7=)
2g.208129545T>ACA350097074CRYGCc.148A>T (p.Asn50Tyr)
n.98-7511T>A
c.19A>T (p.Asn7Tyr)
2g.208129545T>CCA350097069CRYGCc.148A>G (p.Asn50Asp)
n.98-7511T>C
c.19A>G (p.Asn7Asp)
2g.208129545T>GCA350097066CRYGCc.148A>C (p.Asn50His)
n.98-7511T>G
c.19A>C (p.Asn7His)
2g.208129546G>ACA431116212CRYGCc.147C>T (p.Pro49=)
n.98-7510G>A
c.18C>T (p.Pro6=)
2g.208129546G>CCA431116213CRYGCc.147C>G (p.Pro49=)
n.98-7510G>C
c.18C>G (p.Pro6=)
gnomAD v4
2g.208129546G>TCA431116214CRYGCc.147C>A (p.Pro49=)
n.98-7510G>T
c.18C>A (p.Pro6=)
COSMIC
2g.208129547G>ACA350097078CRYGCc.146C>T (p.Pro49Leu)
n.98-7509G>A
c.17C>T (p.Pro6Leu)
2g.208129547G>CCA350097081CRYGCc.146C>G (p.Pro49Arg)
n.98-7509G>C
c.17C>G (p.Pro6Arg)
gnomAD v4
2g.208129547G>TCA350097084CRYGCc.146C>A (p.Pro49His)
n.98-7509G>T
c.17C>A (p.Pro6His)
2g.208129548G>ACA350097087CRYGCc.145C>T (p.Pro49Ser)
n.98-7508G>A
c.16C>T (p.Pro6Ser)
2g.208129548G>CCA350097090CRYGCc.145C>G (p.Pro49Ala)
n.98-7508G>C
c.16C>G (p.Pro6Ala)
2g.208129548G=CA1323931422CRYGCc.145C= (p.Pro49=)
n.98-7508G=
c.16C= (p.Pro6=)
2g.208129548G>TCA350097093CRYGCc.145C>A (p.Pro49Thr)
n.98-7508G>T
c.16C>A (p.Pro6Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.208129549A=CA1323931423CRYGCc.144T= (p.Arg48=)
n.98-7507A=
c.15T= (p.Arg5=)
2g.208129549A>CCA431116221CRYGCc.144T>G (p.Arg48=)
n.98-7507A>C
c.15T>G (p.Arg5=)
2g.208129549A>GCA2077937CRYGCc.144T>C (p.Arg48=)
n.98-7507A>G
c.15T>C (p.Arg5=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129549A>TCA431116218CRYGCc.144T>A (p.Arg48=)
n.98-7507A>T
c.15T>A (p.Arg5=)
dbSNP
2g.208129550C>ACA350097101CRYGCc.143G>T (p.Arg48Leu)
n.98-7506C>A
c.14G>T (p.Arg5Leu)
2g.208129550C=CA1323931424CRYGCc.143G= (p.Arg48=)
n.98-7506C=
c.14G= (p.Arg5=)
2g.208129550C>GCA350097104CRYGCc.143G>C (p.Arg48Pro)
n.98-7506C>G
c.14G>C (p.Arg5Pro)
2g.208129550C>TCA2077938CRYGCc.143G>A (p.Arg48His)
n.98-7506C>T
c.14G>A (p.Arg5His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129551G>ACA2077939CRYGCc.142C>T (p.Arg48Cys)
n.98-7505G>A
c.13C>T (p.Arg5Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208129551G>CCA350097120CRYGCc.142C>G (p.Arg48Gly)
n.98-7505G>C
c.13C>G (p.Arg5Gly)
2g.208129551G=CA1323931425CRYGCc.142C= (p.Arg48=)
n.98-7505G=
c.13C= (p.Arg5=)
2g.208129551G>TCA350097125CRYGCc.142C>A (p.Arg48Ser)
n.98-7505G>T
c.13C>A (p.Arg5Ser)
dbSNP COSMIC
2g.208129552C>ACA350097132CRYGCc.141G>T (p.Glu47Asp)
n.98-7504C>A
c.12G>T (p.Glu4Asp)
2g.208129552C=CA1323931426CRYGCc.141G= (p.Glu47=)
n.98-7504C=
c.12G= (p.Glu4=)
2g.208129552C>GCA350097129CRYGCc.141G>C (p.Glu47Asp)
n.98-7504C>G
c.12G>C (p.Glu4Asp)
2g.208129552C>TCA431116225CRYGCc.141G>A (p.Glu47=)
n.98-7504C>T
c.12G>A (p.Glu4=)
dbSNP gnomAD v3 gnomAD v4
2g.208129553T>ACA350097135CRYGCc.140A>T (p.Glu47Val)
n.98-7503T>A
c.11A>T (p.Glu4Val)
2g.208129553T>CCA350097137CRYGCc.140A>G (p.Glu47Gly)
n.98-7503T>C
c.11A>G (p.Glu4Gly)
2g.208129553T>GCA350097136CRYGCc.140A>C (p.Glu47Ala)
n.98-7503T>G
c.11A>C (p.Glu4Ala)
2g.208129554C>ACA350097139CRYGCc.139G>T (p.Glu47Ter)
n.98-7502C>A
c.10G>T (p.Glu4Ter)
2g.208129554C>GCA350097141CRYGCc.139G>C (p.Glu47Gln)
n.98-7502C>G
c.10G>C (p.Glu4Gln)
gnomAD v4
2g.208129554C>TCA350097151CRYGCc.139G>A (p.Glu47Lys)
n.98-7502C>T
c.10G>A (p.Glu4Lys)
2g.208129555A>CCA350097152CRYGCc.138T>G (p.Tyr46Ter)
n.98-7501A>C
c.9T>G (p.Tyr3Ter)
2g.208129555A>GCA431116229CRYGCc.138T>C (p.Tyr46=)
n.98-7501A>G
c.9T>C (p.Tyr3=)
gnomAD v4
2g.208129555A>TCA350097154CRYGCc.138T>A (p.Tyr46Ter)
n.98-7501A>T
c.9T>A (p.Tyr3Ter)
2g.208129556T>ACA350097156CRYGCc.137A>T (p.Tyr46Phe)
n.98-7500T>A
c.8A>T (p.Tyr3Phe)
2g.208129556T>CCA2077940CRYGCc.137A>G (p.Tyr46Cys)
n.98-7500T>C
c.8A>G (p.Tyr3Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129556T>GCA350097160CRYGCc.137A>C (p.Tyr46Ser)
n.98-7500T>G
c.8A>C (p.Tyr3Ser)
2g.208129556T=CA1323931427CRYGCc.137A= (p.Tyr46=)
n.98-7500T=
c.8A= (p.Tyr3=)
2g.208129557A=CA1323931428CRYGCc.136T= (p.Tyr46=)
n.98-7499A=
c.7T= (p.Tyr3=)
2g.208129557A>CCA350097163CRYGCc.136T>G (p.Tyr46Asp)
n.98-7499A>C
c.7T>G (p.Tyr3Asp)
2g.208129557A>GCA350097164CRYGCc.136T>C (p.Tyr46His)
n.98-7499A>G
c.7T>C (p.Tyr3His)
dbSNP gnomAD v2
2g.208129557A>TCA350097166CRYGCc.136T>A (p.Tyr46Asn)
n.98-7499A>T
c.7T>A (p.Tyr3Asn)
2g.208129558G>ACA431116231CRYGCc.135C>T (p.Leu45=)
n.98-7498G>A
c.6C>T (p.Leu2=)
gnomAD v4
2g.208129558G>CCA431116232CRYGCc.135C>G (p.Leu45=)
n.98-7498G>C
c.6C>G (p.Leu2=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208129558G=CA1323931429CRYGCc.135C= (p.Leu45=)
n.98-7498G=
c.6C= (p.Leu2=)
2g.208129558G>TCA431116233CRYGCc.135C>A (p.Leu45=)
n.98-7498G>T
c.6C>A (p.Leu2=)
2g.208129559A>CCA350097171CRYGCc.134T>G (p.Leu45Arg)
n.98-7497A>C
c.5T>G (p.Leu2Arg)
2g.208129559A>GCA350097170CRYGCc.134T>C (p.Leu45Pro)
n.98-7497A>G
c.5T>C (p.Leu2Pro)
2g.208129559A>TCA350097168CRYGCc.134T>A (p.Leu45His)
n.98-7497A>T
c.5T>A (p.Leu2His)
2g.208129563_208129569delCA2662869241CRYGCc.128_134del (p.Trp43SerfsTer?)
n.98-7493_98-7487del
c.-2_5del
gnomAD v4
2g.208129560G>ACA350097175CRYGCc.133C>T (p.Leu45Phe)
n.98-7496G>A
c.4C>T (p.Leu2Phe)
gnomAD v4
2g.208129560G>CCA350097177CRYGCc.133C>G (p.Leu45Val)
n.98-7496G>C
c.4C>G (p.Leu2Val)
2g.208129560G=CA1323931430CRYGCc.133C= (p.Leu45=)
n.98-7496G=
c.4C= (p.Leu2=)
2g.208129560G>TCA350097180CRYGCc.133C>A (p.Leu45Ile)
n.98-7496G>T
c.4C>A (p.Leu2Ile)
dbSNP gnomAD v4
2g.208129561C>ACA350097183CRYGCc.132G>T (p.Met44Ile)
n.98-7495C>A
c.3G>T (p.Met1Ile)
2g.208129561C>GCA350097185CRYGCc.132G>C (p.Met44Ile)
n.98-7495C>G
c.3G>C (p.Met1Ile)
2g.208129561C>TCA350097186CRYGCc.132G>A (p.Met44Ile)
n.98-7495C>T
c.3G>A (p.Met1Ile)
2g.208129562A=CA1323931431CRYGCc.131T= (p.Met44=)
n.98-7494A=
c.2T= (p.Met1=)
2g.208129562A>CCA350097189CRYGCc.131T>G (p.Met44Arg)
n.98-7494A>C
c.2T>G (p.Met1Arg)
2g.208129562A>GCA2077941CRYGCc.131T>C (p.Met44Thr)
n.98-7494A>G
c.2T>C (p.Met1Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129562A>TCA350097192CRYGCc.131T>A (p.Met44Lys)
n.98-7494A>T
c.2T>A (p.Met1Lys)
2g.208129563delCA2586971173CRYGCc.130del (p.Met44CysfsTer?)
n.98-7493del
c.1del (p.Met1CysfsTer?)
2g.208129563T>ACA350097195CRYGCc.130A>T (p.Met44Leu)
n.98-7493T>A
c.1A>T (p.Met1Leu)
2g.208129563T>CCA350097197CRYGCc.130A>G (p.Met44Val)
n.98-7493T>C
c.1A>G (p.Met1Val)
dbSNP
2g.208129563T>GCA350097200CRYGCc.130A>C (p.Met44Leu)
n.98-7493T>G
c.1A>C (p.Met1Leu)
2g.208129563T=CA1323931432CRYGCc.130A= (p.Met44=)
n.98-7493T=
c.1A= (p.Met1=)
2g.208129564C>ACA350097210CRYGCc.129G>T (p.Trp43Cys)
n.98-7492C>A
c.-1G>T (n.-1G>T)
2g.208129564C>GCA350097207CRYGCc.129G>C (p.Trp43Cys)
n.98-7492C>G
c.-1G>C (n.-1G>C)
2g.208129564C>TCA350097204CRYGCc.129G>A (p.Trp43Ter)
n.98-7492C>T
c.-1G>A (n.-1G>A)
2g.208129565C>ACA350097213CRYGCc.128G>T (p.Trp43Leu)
n.98-7491C>A
c.-2G>T (n.-2G>T)
2g.208129565C=CA1323931433CRYGCc.128G= (p.Trp43=)
n.98-7491C=
c.-2G= (n.-2G=)
2g.208129565C>GCA350097215CRYGCc.128G>C (p.Trp43Ser)
n.98-7491C>G
c.-2G>C (n.-2G>C)
2g.208129565C>TCA350097214CRYGCc.128G>A (p.Trp43Ter)
n.98-7491C>T
c.-2G>A (n.-2G>A)
dbSNP
2g.208129566A>CCA350097218CRYGCc.127T>G (p.Trp43Gly)
n.98-7490A>C
c.-3T>G (n.-3T>G)
2g.208129566A>GCA350097231CRYGCc.127T>C (p.Trp43Arg)
n.98-7490A>G
c.-3T>C (n.-3T>C)
2g.208129566A>TCA350097222CRYGCc.127T>A (p.Trp43Arg)
n.98-7490A>T
c.-3T>A (n.-3T>A)
2g.208129567G>ACA431116237CRYGCc.126C>T (p.Cys42=)
n.98-7489G>A
c.-4C>T (n.-4C>T)
dbSNP gnomAD v2
2g.208129567G>CCA2077942CRYGCc.126C>G (p.Cys42Trp)
n.98-7489G>C
c.-4C>G (n.-4C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129567G=CA1323931434CRYGCc.126C= (p.Cys42=)
n.98-7489G=
c.-4C= (n.-4C=)
2g.208129567G>TCA350097237CRYGCc.126C>A (p.Cys42Ter)
n.98-7489G>T
c.-4C>A (n.-4C>A)
2g.208129568C>ACA350097240CRYGCc.125G>T (p.Cys42Phe)
n.98-7488C>A
c.-5G>T (n.-5G>T)
2g.208129568C=CA1323931435CRYGCc.125G= (p.Cys42=)
n.98-7488C=
c.-5G= (n.-5G=)
2g.208129568C>GCA350097242CRYGCc.125G>C (p.Cys42Ser)
n.98-7488C>G
c.-5G>C (n.-5G>C)
2g.208129568C>TCA350097244CRYGCc.125G>A (p.Cys42Tyr)
n.98-7488C>T
c.-5G>A (n.-5G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.208129569delCA2586971174CRYGCc.124del (p.Cys42AlafsTer?)
n.98-7487del
c.-6del (n.-6del)
2g.208129569A=CA1323931436CRYGCc.124T= (p.Cys42=)
n.98-7487A=
c.-6T= (n.-6T=)
2g.208129569A>CCA350097247CRYGCc.124T>G (p.Cys42Gly)
n.98-7487A>C
c.-6T>G (n.-6T>G)
2g.208129569A>GCA2077943CRYGCc.124T>C (p.Cys42Arg)
n.98-7487A>G
c.-6T>C (n.-6T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129569A>TCA350097250CRYGCc.124T>A (p.Cys42Ser)
n.98-7487A>T
c.-6T>A (n.-6T>A)
2g.208129570G>ACA2077944CRYGCc.123C>T (p.Gly41=)
n.98-7486G>A
c.-7C>T (n.-7C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129570G>CCA431116238CRYGCc.123C>G (p.Gly41=)
n.98-7486G>C
c.-7C>G (n.-7C>G)
2g.208129570G=CA1323931437CRYGCc.123C= (p.Gly41=)
n.98-7486G=
c.-7C= (n.-7C=)
2g.208129570G>TCA431116239CRYGCc.123C>A (p.Gly41=)
n.98-7486G>T
c.-7C>A (n.-7C>A)
2g.208129570_208129574dupCA1139657648CRYGCc.119_123dup (p.Cys42AlafsTer?)
n.98-7486_98-7482dup
c.-11_-7dup (n.-11_-7dup)
ClinVar dbSNP
2g.208129571C>ACA350097261CRYGCc.122G>T (p.Gly41Val)
n.98-7485C>A
c.-8G>T (n.-8G>T)
2g.208129571C>GCA350097267CRYGCc.122G>C (p.Gly41Ala)
n.98-7485C>G
c.-8G>C (n.-8G>C)
2g.208129571C>TCA350097269CRYGCc.122G>A (p.Gly41Asp)
n.98-7485C>T
c.-8G>A (n.-8G>A)
2g.208129572C>ACA350097273CRYGCc.121G>T (p.Gly41Cys)
n.98-7484C>A
c.-9G>T (n.-9G>T)
2g.208129572C=CA1323931438CRYGCc.121G= (p.Gly41=)
n.98-7484C=
c.-9G= (n.-9G=)
2g.208129572C>GCA350097271CRYGCc.121G>C (p.Gly41Arg)
n.98-7484C>G
c.-9G>C (n.-9G>C)
2g.208129572C>TCA2077945CRYGCc.121G>A (p.Gly41Ser)
n.98-7484C>T
c.-9G>A (n.-9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129573G>ACA2077946CRYGCc.120C>T (p.Ser40=)
n.98-7483G>A
c.-10C>T (n.-10C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208129573G>CCA350097279CRYGCc.120C>G (p.Ser40Arg)
n.98-7483G>C
c.-10C>G (n.-10C>G)
2g.208129573G=CA1323931439CRYGCc.120C= (p.Ser40=)
n.98-7483G=
c.-10C= (n.-10C=)
2g.208129573G>TCA2077947CRYGCc.120C>A (p.Ser40Arg)
n.98-7483G>T
c.-10C>A (n.-10C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129574C>ACA350097284CRYGCc.119G>T (p.Ser40Ile)
n.98-7482C>A
c.-11G>T (n.-11G>T)
2g.208129574C=CA1323931440CRYGCc.119G= (p.Ser40=)
n.98-7482C=
c.-11G= (n.-11G=)
2g.208129574C>GCA350097285CRYGCc.119G>C (p.Ser40Thr)
n.98-7482C>G
c.-11G>C (n.-11G>C)
2g.208129574C>TCA350097287CRYGCc.119G>A (p.Ser40Asn)
n.98-7482C>T
c.-11G>A (n.-11G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208129575T>ACA350097289CRYGCc.118A>T (p.Ser40Cys)
n.98-7481T>A
c.-12A>T (n.-12A>T)
2g.208129575T>CCA350097291CRYGCc.118A>G (p.Ser40Gly)
n.98-7481T>C
c.-12A>G (n.-12A>G)
dbSNP
2g.208129575T>GCA350097293CRYGCc.118A>C (p.Ser40Arg)
n.98-7481T>G
c.-12A>C (n.-12A>C)
2g.208129575T=CA1323931441CRYGCc.118A= (p.Ser40=)
n.98-7481T=
c.-12A= (n.-12A=)
2g.208129576C>ACA350097296CRYGCc.117G>T (p.Glu39Asp)
n.98-7480C>A
c.-13G>T (n.-13G>T)
2g.208129576C=CA1323931442CRYGCc.117G= (p.Glu39=)
n.98-7480C=
c.-13G= (n.-13G=)
2g.208129576C>GCA350097298CRYGCc.117G>C (p.Glu39Asp)
n.98-7480C>G
c.-13G>C (n.-13G>C)
2g.208129576C>TCA64611606CRYGCc.117G>A (p.Glu39=)
n.98-7480C>T
c.-13G>A (n.-13G>A)
dbSNP
2g.208129577T>ACA350097301CRYGCc.116A>T (p.Glu39Val)
n.98-7479T>A
c.-14A>T (n.-14A>T)
2g.208129577T>CCA350097300CRYGCc.116A>G (p.Glu39Gly)
n.98-7479T>C
c.-14A>G (n.-14A>G)
dbSNP
2g.208129577T>GCA350097299CRYGCc.116A>C (p.Glu39Ala)
n.98-7479T>G
c.-14A>C (n.-14A>C)
2g.208129577T=CA1323931443CRYGCc.116A= (p.Glu39=)
n.98-7479T=
c.-14A= (n.-14A=)
2g.208129578C>ACA350097306CRYGCc.115G>T (p.Glu39Ter)
n.98-7478C>A
c.-15G>T (n.-15G>T)
2g.208129578C>GCA350097302CRYGCc.115G>C (p.Glu39Gln)
n.98-7478C>G
c.-15G>C (n.-15G>C)
2g.208129578C>TCA350097304CRYGCc.115G>A (p.Glu39Lys)
n.98-7478C>T
c.-15G>A (n.-15G>A)
gnomAD v4
2g.208129579C>ACA431116240CRYGCc.114G>T (p.Val38=)
n.98-7477C>A
c.-16G>T (n.-16G>T)
2g.208129579C>GCA431116241CRYGCc.114G>C (p.Val38=)
n.98-7477C>G
c.-16G>C (n.-16G>C)
2g.208129579C>TCA431116242CRYGCc.114G>A (p.Val38=)
n.98-7477C>T
c.-16G>A (n.-16G>A)
gnomAD v4 COSMIC
2g.208129580A>CCA350097308CRYGCc.113T>G (p.Val38Gly)
n.98-7476A>C
c.-17T>G (n.-17T>G)
2g.208129580A>GCA350097310CRYGCc.113T>C (p.Val38Ala)
n.98-7476A>G
c.-17T>C (n.-17T>C)
gnomAD v4
2g.208129580A>TCA350097311CRYGCc.113T>A (p.Val38Glu)
n.98-7476A>T
c.-17T>A (n.-17T>A)
gnomAD v4
2g.208129581C>ACA350097316CRYGCc.112G>T (p.Val38Leu)
n.98-7475C>A
c.-18G>T (n.-18G>T)
2g.208129581C>GCA350097315CRYGCc.112G>C (p.Val38Leu)
n.98-7475C>G
c.-18G>C (n.-18G>C)
2g.208129581C>TCA350097313CRYGCc.112G>A (p.Val38Met)
n.98-7475C>T
c.-18G>A (n.-18G>A)
dbSNP gnomAD v3 gnomAD v4
2g.208129582C>ACA431116243CRYGCc.111G>T (p.Arg37=)
n.98-7474C>A
c.-19G>T (n.-19G>T)
gnomAD v4
2g.208129582C>GCA431116245CRYGCc.111G>C (p.Arg37=)
n.98-7474C>G
c.-19G>C (n.-19G>C)
2g.208129582C>TCA431116244CRYGCc.111G>A (p.Arg37=)
n.98-7474C>T
c.-19G>A (n.-19G>A)
2g.208129583C>ACA2077948CRYGCc.110G>T (p.Arg37Leu)
n.98-7473C>A
c.-20G>T (n.-20G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208129583C=CA1323931444CRYGCc.110G= (p.Arg37=)
n.98-7473C=
c.-20G= (n.-20G=)
2g.208129583C>GCA350097317CRYGCc.110G>C (p.Arg37Pro)
n.98-7473C>G
c.-20G>C (n.-20G>C)
2g.208129583C>TCA2077949CRYGCc.110G>A (p.Arg37Gln)
n.98-7473C>T
c.-20G>A (n.-20G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched