Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208129482C>A | CA350096267 | CRYGC | c.211G>T (p.Gly71Cys) n.98-7574C>A c.82G>T (p.Gly28Cys) | |
2 | g.208129482C>G | CA350096269 | CRYGC | c.211G>C (p.Gly71Arg) n.98-7574C>G c.82G>C (p.Gly28Arg) | |
2 | g.208129482C>T | CA350096274 | CRYGC | c.211G>A (p.Gly71Ser) n.98-7574C>T c.82G>A (p.Gly28Ser) | |
2 | g.208129483C>A | CA350096302 | CRYGC | c.210G>T (p.Met70Ile) n.98-7573C>A c.81G>T (p.Met27Ile) | |
2 | g.208129483C= | CA1323931392 | CRYGC | c.210G= (p.Met70=) n.98-7573C= c.81G= (p.Met27=) | |
2 | g.208129483C>G | CA350096289 | CRYGC | c.210G>C (p.Met70Ile) n.98-7573C>G c.81G>C (p.Met27Ile) | |
2 | g.208129483C>T | CA350096292 | CRYGC | c.210G>A (p.Met70Ile) n.98-7573C>T c.81G>A (p.Met27Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129484_208129486dup | CA2662869236 | CRYGC | c.208_210dup (p.Met70_Gly71insMet) n.98-7572_98-7570dup c.79_81dup (p.Met27_Gly28insMet) | gnomAD v4 |
2 | g.208129484_208129492del | CA2662869237 | CRYGC | c.202_210del (p.Gln68_Met70del) n.98-7572_98-7564del c.73_81del (p.Gln25_Met27del) | gnomAD v4 |
2 | g.208129484A>C | CA350096305 | CRYGC | c.209T>G (p.Met70Arg) n.98-7572A>C c.80T>G (p.Met27Arg) | gnomAD v4 |
2 | g.208129484A>G | CA350096317 | CRYGC | c.209T>C (p.Met70Thr) n.98-7572A>G c.80T>C (p.Met27Thr) | |
2 | g.208129484A>T | CA350096320 | CRYGC | c.209T>A (p.Met70Lys) n.98-7572A>T c.80T>A (p.Met27Lys) | |
2 | g.208129485T>A | CA350096326 | CRYGC | c.208A>T (p.Met70Leu) n.98-7571T>A c.79A>T (p.Met27Leu) | |
2 | g.208129485T>C | CA350096336 | CRYGC | c.208A>G (p.Met70Val) n.98-7571T>C c.79A>G (p.Met27Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129485T>G | CA350096342 | CRYGC | c.208A>C (p.Met70Leu) n.98-7571T>G c.79A>C (p.Met27Leu) | gnomAD v4 |
2 | g.208129485T= | CA1323931393 | CRYGC | c.208A= (p.Met70=) n.98-7571T= c.79A= (p.Met27=) | |
2 | g.208129486C>A | CA350096348 | CRYGC | c.207G>T (p.Trp69Cys) n.98-7570C>A c.78G>T (p.Trp26Cys) | |
2 | g.208129486C= | CA1323931394 | CRYGC | c.207G= (p.Trp69=) n.98-7570C= c.78G= (p.Trp26=) | |
2 | g.208129486C>G | CA64611382 | CRYGC | c.207G>C (p.Trp69Cys) n.98-7570C>G c.78G>C (p.Trp26Cys) | dbSNP gnomAD v4 |
2 | g.208129486C>T | CA350096350 | CRYGC | c.207G>A (p.Trp69Ter) n.98-7570C>T c.78G>A (p.Trp26Ter) | |
2 | g.208129487C>A | CA350096354 | CRYGC | c.206G>T (p.Trp69Leu) n.98-7569C>A c.77G>T (p.Trp26Leu) | |
2 | g.208129487C>G | CA350096359 | CRYGC | c.206G>C (p.Trp69Ser) n.98-7569C>G c.77G>C (p.Trp26Ser) | |
2 | g.208129487C>T | CA350096371 | CRYGC | c.206G>A (p.Trp69Ter) n.98-7569C>T c.77G>A (p.Trp26Ter) | |
2 | g.208129488A= | CA1323931395 | CRYGC | c.205T= (p.Trp69=) n.98-7568A= c.76T= (p.Trp26=) | |
2 | g.208129488A>C | CA350096375 | CRYGC | c.205T>G (p.Trp69Gly) n.98-7568A>C c.76T>G (p.Trp26Gly) | dbSNP |
2 | g.208129488A>G | CA350096389 | CRYGC | c.205T>C (p.Trp69Arg) n.98-7568A>G c.76T>C (p.Trp26Arg) | gnomAD v4 |
2 | g.208129488A>T | CA2077923 | CRYGC | c.205T>A (p.Trp69Arg) n.98-7568A>T c.76T>A (p.Trp26Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129488_208129490del | CA2662869238 | CRYGC | c.203_205del (p.Gln68_Trp69delinsArg) n.98-7568_98-7566del c.74_76del (p.Gln25_Trp26delinsArg) | gnomAD v4 |
2 | g.208129489T>A | CA350096422 | CRYGC | c.204A>T (p.Gln68His) n.98-7567T>A c.75A>T (p.Gln25His) | |
2 | g.208129489T>C | CA431116143 | CRYGC | c.204A>G (p.Gln68=) n.98-7567T>C c.75A>G (p.Gln25=) | |
2 | g.208129489T>G | CA350096431 | CRYGC | c.204A>C (p.Gln68His) n.98-7567T>G c.75A>C (p.Gln25His) | |
2 | g.208129490T>A | CA350096432 | CRYGC | c.203A>T (p.Gln68Leu) n.98-7566T>A c.74A>T (p.Gln25Leu) | |
2 | g.208129490T>C | CA350096433 | CRYGC | c.203A>G (p.Gln68Arg) n.98-7566T>C c.74A>G (p.Gln25Arg) | |
2 | g.208129490T>G | CA350096436 | CRYGC | c.203A>C (p.Gln68Pro) n.98-7566T>G c.74A>C (p.Gln25Pro) | |
2 | g.208129491G>A | CA350096442 | CRYGC | c.202C>T (p.Gln68Ter) n.98-7565G>A c.73C>T (p.Gln25Ter) | |
2 | g.208129491G>C | CA350096444 | CRYGC | c.202C>G (p.Gln68Glu) n.98-7565G>C c.73C>G (p.Gln25Glu) | |
2 | g.208129491G>T | CA350096448 | CRYGC | c.202C>A (p.Gln68Lys) n.98-7565G>T c.73C>A (p.Gln25Lys) | gnomAD v4 |
2 | g.208129492C>A | CA350096453 | CRYGC | c.201G>T (p.Gln67His) n.98-7564C>A c.72G>T (p.Gln24His) | |
2 | g.208129492C>G | CA350096456 | CRYGC | c.201G>C (p.Gln67His) n.98-7564C>G c.72G>C (p.Gln24His) | |
2 | g.208129492C>T | CA431116147 | CRYGC | c.201G>A (p.Gln67=) n.98-7564C>T c.72G>A (p.Gln24=) | |
2 | g.208129493T>A | CA350096465 | CRYGC | c.200A>T (p.Gln67Leu) n.98-7563T>A c.71A>T (p.Gln24Leu) | |
2 | g.208129493T>C | CA350096470 | CRYGC | c.200A>G (p.Gln67Arg) n.98-7563T>C c.71A>G (p.Gln24Arg) | |
2 | g.208129493T>G | CA350096484 | CRYGC | c.200A>C (p.Gln67Pro) n.98-7563T>G c.71A>C (p.Gln24Pro) | |
2 | g.208129494G>A | CA350096493 | CRYGC | c.199C>T (p.Gln67Ter) n.98-7562G>A c.70C>T (p.Gln24Ter) | |
2 | g.208129494G>C | CA350096492 | CRYGC | c.199C>G (p.Gln67Glu) n.98-7562G>C c.70C>G (p.Gln24Glu) | |
2 | g.208129494G>T | CA350096489 | CRYGC | c.199C>A (p.Gln67Lys) n.98-7562G>T c.70C>A (p.Gln24Lys) | gnomAD v4 |
2 | g.208129495G>A | CA431116150 | CRYGC | c.198C>T (p.Tyr66=) n.98-7561G>A c.69C>T (p.Tyr23=) | |
2 | g.208129495G>C | CA350096494 | CRYGC | c.198C>G (p.Tyr66Ter) n.98-7561G>C c.69C>G (p.Tyr23Ter) | |
2 | g.208129495G>T | CA350096496 | CRYGC | c.198C>A (p.Tyr66Ter) n.98-7561G>T c.69C>A (p.Tyr23Ter) | |
2 | g.208129496T>A | CA350096501 | CRYGC | c.197A>T (p.Tyr66Phe) n.98-7560T>A c.68A>T (p.Tyr23Phe) | |
2 | g.208129496T>C | CA350096504 | CRYGC | c.197A>G (p.Tyr66Cys) n.98-7560T>C c.68A>G (p.Tyr23Cys) | |
2 | g.208129496T>G | CA350096505 | CRYGC | c.197A>C (p.Tyr66Ser) n.98-7560T>G c.68A>C (p.Tyr23Ser) | |
2 | g.208129497A>C | CA350096506 | CRYGC | c.196T>G (p.Tyr66Asp) n.98-7559A>C c.67T>G (p.Tyr23Asp) | |
2 | g.208129497A>G | CA350096508 | CRYGC | c.196T>C (p.Tyr66His) n.98-7559A>G c.67T>C (p.Tyr23His) | gnomAD v4 |
2 | g.208129497A>T | CA350096511 | CRYGC | c.196T>A (p.Tyr66Asn) n.98-7559A>T c.67T>A (p.Tyr23Asn) | |
2 | g.208129498G>A | CA431116151 | CRYGC | c.195C>T (p.Asp65=) n.98-7558G>A c.66C>T (p.Asp22=) | |
2 | g.208129498G>C | CA350096519 | CRYGC | c.195C>G (p.Asp65Glu) n.98-7558G>C c.66C>G (p.Asp22Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129498G= | CA1323931396 | CRYGC | c.195C= (p.Asp65=) n.98-7558G= c.66C= (p.Asp22=) | |
2 | g.208129498G>T | CA350096521 | CRYGC | c.195C>A (p.Asp65Glu) n.98-7558G>T c.66C>A (p.Asp22Glu) | |
2 | g.208129499T>A | CA350096525 | CRYGC | c.194A>T (p.Asp65Val) n.98-7557T>A c.65A>T (p.Asp22Val) | |
2 | g.208129499T>C | CA350096528 | CRYGC | c.194A>G (p.Asp65Gly) n.98-7557T>C c.65A>G (p.Asp22Gly) | dbSNP gnomAD v4 |
2 | g.208129499T>G | CA350096531 | CRYGC | c.194A>C (p.Asp65Ala) n.98-7557T>G c.65A>C (p.Asp22Ala) | |
2 | g.208129499T= | CA1323931397 | CRYGC | c.194A= (p.Asp65=) n.98-7557T= c.65A= (p.Asp22=) | |
2 | g.208129500del | CA645372108 | CRYGC | c.193del (p.Asp65ThrfsTer?) n.98-7556del c.64del (p.Asp22ThrfsTer?) | |
2 | g.208129500C>A | CA350096540 | CRYGC | c.193G>T (p.Asp65Tyr) n.98-7556C>A c.64G>T (p.Asp22Tyr) | |
2 | g.208129500C= | CA1323931398 | CRYGC | c.193G= (p.Asp65=) n.98-7556C= c.64G= (p.Asp22=) | |
2 | g.208129500C>G | CA350096547 | CRYGC | c.193G>C (p.Asp65His) n.98-7556C>G c.64G>C (p.Asp22His) | dbSNP |
2 | g.208129500C>T | CA2077924 | CRYGC | c.193G>A (p.Asp65Asn) n.98-7556C>T c.64G>A (p.Asp22Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129501G>A | CA2077925 | CRYGC | c.192C>T (p.Pro64=) n.98-7555G>A c.63C>T (p.Pro21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129501G>C | CA431116155 | CRYGC | c.192C>G (p.Pro64=) n.98-7555G>C c.63C>G (p.Pro21=) | |
2 | g.208129501G= | CA1323931399 | CRYGC | c.192C= (p.Pro64=) n.98-7555G= c.63C= (p.Pro21=) | |
2 | g.208129501G>T | CA431116156 | CRYGC | c.192C>A (p.Pro64=) n.98-7555G>T c.63C>A (p.Pro21=) | |
2 | g.208129504del | CA2586971171 | CRYGC | c.192del (p.Asp65ThrfsTer?) n.98-7552del c.63del (p.Asp22ThrfsTer?) | |
2 | g.208129502G>A | CA350096556 | CRYGC | c.191C>T (p.Pro64Leu) n.98-7554G>A c.62C>T (p.Pro21Leu) | |
2 | g.208129502G>C | CA350096558 | CRYGC | c.191C>G (p.Pro64Arg) n.98-7554G>C c.62C>G (p.Pro21Arg) | |
2 | g.208129502G>T | CA350096559 | CRYGC | c.191C>A (p.Pro64His) n.98-7554G>T c.62C>A (p.Pro21His) | |
2 | g.208129503G>A | CA350096560 | CRYGC | c.190C>T (p.Pro64Ser) n.98-7553G>A c.61C>T (p.Pro21Ser) | dbSNP gnomAD v4 |
2 | g.208129503G>C | CA350096561 | CRYGC | c.190C>G (p.Pro64Ala) n.98-7553G>C c.61C>G (p.Pro21Ala) | |
2 | g.208129503G= | CA1323931400 | CRYGC | c.190C= (p.Pro64=) n.98-7553G= c.61C= (p.Pro21=) | |
2 | g.208129503G>T | CA2077926 | CRYGC | c.190C>A (p.Pro64Thr) n.98-7553G>T c.61C>A (p.Pro21Thr) | dbSNP ExAC COSMIC |
2 | g.208129504G>A | CA431116158 | CRYGC | c.189C>T (p.Tyr63=) n.98-7552G>A c.60C>T (p.Tyr20=) | |
2 | g.208129504G>C | CA350096564 | CRYGC | c.189C>G (p.Tyr63Ter) n.98-7552G>C c.60C>G (p.Tyr20Ter) | |
2 | g.208129504G>T | CA350096567 | CRYGC | c.189C>A (p.Tyr63Ter) n.98-7552G>T c.60C>A (p.Tyr20Ter) | |
2 | g.208129505T>A | CA350096573 | CRYGC | c.188A>T (p.Tyr63Phe) n.98-7551T>A c.59A>T (p.Tyr20Phe) | |
2 | g.208129505T>C | CA350096584 | CRYGC | c.188A>G (p.Tyr63Cys) n.98-7551T>C c.59A>G (p.Tyr20Cys) | |
2 | g.208129505T>G | CA350096587 | CRYGC | c.188A>C (p.Tyr63Ser) n.98-7551T>G c.59A>C (p.Tyr20Ser) | dbSNP |
2 | g.208129505T= | CA1323931401 | CRYGC | c.188A= (p.Tyr63=) n.98-7551T= c.59A= (p.Tyr20=) | |
2 | g.208129506A= | CA1323931402 | CRYGC | c.187T= (p.Tyr63=) n.98-7550A= c.58T= (p.Tyr20=) | |
2 | g.208129506A>C | CA350096622 | CRYGC | c.187T>G (p.Tyr63Asp) n.98-7550A>C c.58T>G (p.Tyr20Asp) | dbSNP |
2 | g.208129506A>G | CA350096605 | CRYGC | c.187T>C (p.Tyr63His) n.98-7550A>G c.58T>C (p.Tyr20His) | |
2 | g.208129506A>T | CA350096618 | CRYGC | c.187T>A (p.Tyr63Asn) n.98-7550A>T c.58T>A (p.Tyr20Asn) | |
2 | g.208129507C>A | CA350096627 | CRYGC | c.186G>T (p.Glu62Asp) n.98-7549C>A c.57G>T (p.Glu19Asp) | |
2 | g.208129507C>G | CA350096628 | CRYGC | c.186G>C (p.Glu62Asp) n.98-7549C>G c.57G>C (p.Glu19Asp) | |
2 | g.208129507C>T | CA431116162 | CRYGC | c.186G>A (p.Glu62=) n.98-7549C>T c.57G>A (p.Glu19=) | gnomAD v4 |
2 | g.208129508T>A | CA350096629 | CRYGC | c.185A>T (p.Glu62Val) n.98-7548T>A c.56A>T (p.Glu19Val) | COSMIC |
2 | g.208129508T>C | CA350096632 | CRYGC | c.185A>G (p.Glu62Gly) n.98-7548T>C c.56A>G (p.Glu19Gly) | gnomAD v4 |
2 | g.208129508T>G | CA350096635 | CRYGC | c.185A>C (p.Glu62Ala) n.98-7548T>G c.56A>C (p.Glu19Ala) | |
2 | g.208129509C>A | CA350096641 | CRYGC | c.184G>T (p.Glu62Ter) n.98-7547C>A c.55G>T (p.Glu19Ter) | |
2 | g.208129509C= | CA1323931403 | CRYGC | c.184G= (p.Glu62=) n.98-7547C= c.55G= (p.Glu19=) | |
2 | g.208129509C>G | CA350096645 | CRYGC | c.184G>C (p.Glu62Gln) n.98-7547C>G c.55G>C (p.Glu19Gln) | |
2 | g.208129509C>T | CA350096649 | CRYGC | c.184G>A (p.Glu62Lys) n.98-7547C>T c.55G>A (p.Glu19Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208129510C>A | CA431116166 | CRYGC | c.183G>T (p.Gly61=) n.98-7546C>A c.54G>T (p.Gly18=) | |
2 | g.208129510C= | CA1323931404 | CRYGC | c.183G= (p.Gly61=) n.98-7546C= c.54G= (p.Gly18=) | |
2 | g.208129510C>G | CA431116167 | CRYGC | c.183G>C (p.Gly61=) n.98-7546C>G c.54G>C (p.Gly18=) | |
2 | g.208129510C>T | CA431116168 | CRYGC | c.183G>A (p.Gly61=) n.98-7546C>T c.54G>A (p.Gly18=) | dbSNP |
2 | g.208129511C>A | CA350096655 | CRYGC | c.182G>T (p.Gly61Val) n.98-7545C>A c.53G>T (p.Gly18Val) | |
2 | g.208129511C>G | CA350096659 | CRYGC | c.182G>C (p.Gly61Ala) n.98-7545C>G c.53G>C (p.Gly18Ala) | |
2 | g.208129511C>T | CA350096662 | CRYGC | c.182G>A (p.Gly61Glu) n.98-7545C>T c.53G>A (p.Gly18Glu) | gnomAD v4 |
2 | g.208129512C>A | CA350096677 | CRYGC | c.181G>T (p.Gly61Trp) n.98-7544C>A c.52G>T (p.Gly18Trp) | |
2 | g.208129512C= | CA1323931405 | CRYGC | c.181G= (p.Gly61=) n.98-7544C= c.52G= (p.Gly18=) | |
2 | g.208129512C>G | CA350096671 | CRYGC | c.181G>C (p.Gly61Arg) n.98-7544C>G c.52G>C (p.Gly18Arg) | |
2 | g.208129512C>T | CA2077927 | CRYGC | c.181G>A (p.Gly61Arg) n.98-7544C>T c.52G>A (p.Gly18Arg) | dbSNP ExAC gnomAD v2 |
2 | g.208129513T>A | CA431116170 | CRYGC | c.180A>T (p.Arg60=) n.98-7543T>A c.51A>T (p.Arg17=) | |
2 | g.208129513T>C | CA431116171 | CRYGC | c.180A>G (p.Arg60=) n.98-7543T>C c.51A>G (p.Arg17=) | |
2 | g.208129513T>G | CA431116172 | CRYGC | c.180A>C (p.Arg60=) n.98-7543T>G c.51A>C (p.Arg17=) | gnomAD v4 |
2 | g.208129514del | CA2586971172 | CRYGC | c.179del (p.Arg60GlnfsTer?) n.98-7542del c.50del (p.Arg17GlnfsTer?) | |
2 | g.208129514C>A | CA350096682 | CRYGC | c.179G>T (p.Arg60Leu) n.98-7542C>A c.50G>T (p.Arg17Leu) | |
2 | g.208129514C= | CA1323931406 | CRYGC | c.179G= (p.Arg60=) n.98-7542C= c.50G= (p.Arg17=) | |
2 | g.208129514C>G | CA350096691 | CRYGC | c.179G>C (p.Arg60Pro) n.98-7542C>G c.50G>C (p.Arg17Pro) | |
2 | g.208129514C>T | CA2077928 | CRYGC | c.179G>A (p.Arg60Gln) n.98-7542C>T c.50G>A (p.Arg17Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129515G>A | CA2077929 | CRYGC | c.178C>T (p.Arg60Ter) n.98-7541G>A c.49C>T (p.Arg17Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208129515G>C | CA350096704 | CRYGC | c.178C>G (p.Arg60Gly) n.98-7541G>C c.49C>G (p.Arg17Gly) | |
2 | g.208129515G= | CA1323931407 | CRYGC | c.178C= (p.Arg60=) n.98-7541G= c.49C= (p.Arg17=) | |
2 | g.208129515G>T | CA2077930 | CRYGC | c.178C>A (p.Arg60=) n.98-7541G>T c.49C>A (p.Arg17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129516C>A | CA431116175 | CRYGC | c.177G>T (p.Arg59=) n.98-7540C>A c.48G>T (p.Arg16=) | |
2 | g.208129516C>G | CA431116176 | CRYGC | c.177G>C (p.Arg59=) n.98-7540C>G c.48G>C (p.Arg16=) | |
2 | g.208129516C>T | CA431116177 | CRYGC | c.177G>A (p.Arg59=) n.98-7540C>T c.48G>A (p.Arg16=) | |
2 | g.208129517C>A | CA350096706 | CRYGC | c.176G>T (p.Arg59Leu) n.98-7539C>A c.47G>T (p.Arg16Leu) | |
2 | g.208129517C= | CA1323931408 | CRYGC | c.176G= (p.Arg59=) n.98-7539C= c.47G= (p.Arg16=) | |
2 | g.208129517C>G | CA350096712 | CRYGC | c.176G>C (p.Arg59Pro) n.98-7539C>G c.47G>C (p.Arg16Pro) | |
2 | g.208129517C>T | CA2077931 | CRYGC | c.176G>A (p.Arg59Gln) n.98-7539C>T c.47G>A (p.Arg16Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129518G>A | CA350096722 | CRYGC | c.175C>T (p.Arg59Trp) n.98-7538G>A c.46C>T (p.Arg16Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208129518G>C | CA350096727 | CRYGC | c.175C>G (p.Arg59Gly) n.98-7538G>C c.46C>G (p.Arg16Gly) | |
2 | g.208129518G= | CA1323931409 | CRYGC | c.175C= (p.Arg59=) n.98-7538G= c.46C= (p.Arg16=) | |
2 | g.208129518G>T | CA431116181 | CRYGC | c.175C>A (p.Arg59=) n.98-7538G>T c.46C>A (p.Arg16=) | |
2 | g.208129519C>A | CA431116182 | CRYGC | c.174G>T (p.Leu58=) n.98-7537C>A c.45G>T (p.Leu15=) | |
2 | g.208129519C>G | CA431116183 | CRYGC | c.174G>C (p.Leu58=) n.98-7537C>G c.45G>C (p.Leu15=) | |
2 | g.208129519C>T | CA431116184 | CRYGC | c.174G>A (p.Leu58=) n.98-7537C>T c.45G>A (p.Leu15=) | |
2 | g.208129520A>C | CA350096736 | CRYGC | c.173T>G (p.Leu58Arg) n.98-7536A>C c.44T>G (p.Leu15Arg) | |
2 | g.208129520A>G | CA350096740 | CRYGC | c.173T>C (p.Leu58Pro) n.98-7536A>G c.44T>C (p.Leu15Pro) | |
2 | g.208129520A>T | CA350096747 | CRYGC | c.173T>A (p.Leu58Gln) n.98-7536A>T c.44T>A (p.Leu15Gln) | |
2 | g.208129521G>A | CA431116186 | CRYGC | c.172C>T (p.Leu58=) n.98-7535G>A c.43C>T (p.Leu15=) | |
2 | g.208129521G>C | CA350096752 | CRYGC | c.172C>G (p.Leu58Val) n.98-7535G>C c.43C>G (p.Leu15Val) | gnomAD v4 |
2 | g.208129521G>T | CA350096757 | CRYGC | c.172C>A (p.Leu58Met) n.98-7535G>T c.43C>A (p.Leu15Met) | |
2 | g.208129522C>A | CA350096770 | CRYGC | c.171G>T (p.Leu57Phe) n.98-7534C>A c.42G>T (p.Leu14Phe) | |
2 | g.208129522C>G | CA350096763 | CRYGC | c.171G>C (p.Leu57Phe) n.98-7534C>G c.42G>C (p.Leu14Phe) | gnomAD v4 |
2 | g.208129522C>T | CA431116187 | CRYGC | c.171G>A (p.Leu57=) n.98-7534C>T c.42G>A (p.Leu14=) | |
2 | g.208129523A>C | CA350096774 | CRYGC | c.170T>G (p.Leu57Trp) n.98-7533A>C c.41T>G (p.Leu14Trp) | |
2 | g.208129523A>G | CA350096778 | CRYGC | c.170T>C (p.Leu57Ser) n.98-7533A>G c.41T>C (p.Leu14Ser) | |
2 | g.208129523A>T | CA350096796 | CRYGC | c.170T>A (p.Leu57Ter) n.98-7533A>T c.41T>A (p.Leu14Ter) | |
2 | g.208129524A= | CA1323931410 | CRYGC | c.169T= (p.Leu57=) n.98-7532A= c.40T= (p.Leu14=) | |
2 | g.208129524A>C | CA350096805 | CRYGC | c.169T>G (p.Leu57Val) n.98-7532A>C c.40T>G (p.Leu14Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129524A>G | CA431116188 | CRYGC | c.169T>C (p.Leu57=) n.98-7532A>G c.40T>C (p.Leu14=) | |
2 | g.208129524A>T | CA350096808 | CRYGC | c.169T>A (p.Leu57Met) n.98-7532A>T c.40T>A (p.Leu14Met) | |
2 | g.208129525G>A | CA2077932 | CRYGC | c.168C>T (p.Tyr56=) n.98-7531G>A c.39C>T (p.Tyr13=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129525G>C | CA350096816 | CRYGC | c.168C>G (p.Tyr56Ter) n.98-7531G>C c.39C>G (p.Tyr13Ter) | |
2 | g.208129525G= | CA1323931411 | CRYGC | c.168C= (p.Tyr56=) n.98-7531G= c.39C= (p.Tyr13=) | |
2 | g.208129525G>T | CA350096820 | CRYGC | c.168C>A (p.Tyr56Ter) n.98-7531G>T c.39C>A (p.Tyr13Ter) | |
2 | g.208129526T>A | CA64611445 | CRYGC | c.167A>T (p.Tyr56Phe) n.98-7530T>A c.38A>T (p.Tyr13Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129526T>C | CA350096831 | CRYGC | c.167A>G (p.Tyr56Cys) n.98-7530T>C c.38A>G (p.Tyr13Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129526T>G | CA350096834 | CRYGC | c.167A>C (p.Tyr56Ser) n.98-7530T>G c.38A>C (p.Tyr13Ser) | dbSNP |
2 | g.208129526T= | CA1323931412 | CRYGC | c.167A= (p.Tyr56=) n.98-7530T= c.38A= (p.Tyr13=) | |
2 | g.208129527A>C | CA350096864 | CRYGC | c.166T>G (p.Tyr56Asp) n.98-7529A>C c.37T>G (p.Tyr13Asp) | |
2 | g.208129527A>G | CA350096865 | CRYGC | c.166T>C (p.Tyr56His) n.98-7529A>G c.37T>C (p.Tyr13His) | |
2 | g.208129527A>T | CA350096855 | CRYGC | c.166T>A (p.Tyr56Asn) n.98-7529A>T c.37T>A (p.Tyr13Asn) | |
2 | g.208129528T>A | CA350096866 | CRYGC | c.165A>T (p.Gln55His) n.98-7528T>A c.36A>T (p.Gln12His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129528T>C | CA431116191 | CRYGC | c.165A>G (p.Gln55=) n.98-7528T>C c.36A>G (p.Gln12=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129528T>G | CA350096868 | CRYGC | c.165A>C (p.Gln55His) n.98-7528T>G c.36A>C (p.Gln12His) | |
2 | g.208129528T= | CA1323931413 | CRYGC | c.165A= (p.Gln55=) n.98-7528T= c.36A= (p.Gln12=) | |
2 | g.208129529T>A | CA350096873 | CRYGC | c.164A>T (p.Gln55Leu) n.98-7527T>A c.35A>T (p.Gln12Leu) | |
2 | g.208129529T>C | CA2077933 | CRYGC | c.164A>G (p.Gln55Arg) n.98-7527T>C c.35A>G (p.Gln12Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129529T>G | CA350096880 | CRYGC | c.164A>C (p.Gln55Pro) n.98-7527T>G c.35A>C (p.Gln12Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129529T= | CA1323931414 | CRYGC | c.164A= (p.Gln55=) n.98-7527T= c.35A= (p.Gln12=) | |
2 | g.208129530G>A | CA350096893 | CRYGC | c.163C>T (p.Gln55Ter) n.98-7526G>A c.34C>T (p.Gln12Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129530G>C | CA350096890 | CRYGC | c.163C>G (p.Gln55Glu) n.98-7526G>C c.34C>G (p.Gln12Glu) | |
2 | g.208129530G= | CA1323931415 | CRYGC | c.163C= (p.Gln55=) n.98-7526G= c.34C= (p.Gln12=) | |
2 | g.208129530G>T | CA350096892 | CRYGC | c.163C>A (p.Gln55Lys) n.98-7526G>T c.34C>A (p.Gln12Lys) | |
2 | g.208129531T>A | CA350096896 | CRYGC | c.162A>T (p.Gln54His) n.98-7525T>A c.33A>T (p.Gln11His) | |
2 | g.208129531T>C | CA431116195 | CRYGC | c.162A>G (p.Gln54=) n.98-7525T>C c.33A>G (p.Gln11=) | |
2 | g.208129531T>G | CA350096898 | CRYGC | c.162A>C (p.Gln54His) n.98-7525T>G c.33A>C (p.Gln11His) | |
2 | g.208129532T>A | CA350096902 | CRYGC | c.161A>T (p.Gln54Leu) n.98-7524T>A c.32A>T (p.Gln11Leu) | |
2 | g.208129532T>C | CA350096911 | CRYGC | c.161A>G (p.Gln54Arg) n.98-7524T>C c.32A>G (p.Gln11Arg) | |
2 | g.208129532T>G | CA350096915 | CRYGC | c.161A>C (p.Gln54Pro) n.98-7524T>G c.32A>C (p.Gln11Pro) | |
2 | g.208129533G>A | CA350096921 | CRYGC | c.160C>T (p.Gln54Ter) n.98-7523G>A c.31C>T (p.Gln11Ter) | COSMIC |
2 | g.208129533G>C | CA350096928 | CRYGC | c.160C>G (p.Gln54Glu) n.98-7523G>C c.31C>G (p.Gln11Glu) | |
2 | g.208129533G>T | CA350096924 | CRYGC | c.160C>A (p.Gln54Lys) n.98-7523G>T c.31C>A (p.Gln11Lys) | |
2 | g.208129534A= | CA1323931416 | CRYGC | c.159T= (p.Gly53=) n.98-7522A= c.30T= (p.Gly10=) | |
2 | g.208129534A>C | CA431116199 | CRYGC | c.159T>G (p.Gly53=) n.98-7522A>C c.30T>G (p.Gly10=) | |
2 | g.208129534A>G | CA431116200 | CRYGC | c.159T>C (p.Gly53=) n.98-7522A>G c.30T>C (p.Gly10=) | gnomAD v4 |
2 | g.208129534A>T | CA2077934 | CRYGC | c.159T>A (p.Gly53=) n.98-7522A>T c.30T>A (p.Gly10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129535C>A | CA350096947 | CRYGC | c.158G>T (p.Gly53Val) n.98-7521C>A c.29G>T (p.Gly10Val) | |
2 | g.208129535C>G | CA350096962 | CRYGC | c.158G>C (p.Gly53Ala) n.98-7521C>G c.29G>C (p.Gly10Ala) | |
2 | g.208129535C>T | CA350096970 | CRYGC | c.158G>A (p.Gly53Asp) n.98-7521C>T c.29G>A (p.Gly10Asp) | |
2 | g.208129536C>A | CA350096975 | CRYGC | c.157G>T (p.Gly53Cys) n.98-7520C>A c.28G>T (p.Gly10Cys) | |
2 | g.208129536C= | CA1323931417 | CRYGC | c.157G= (p.Gly53=) n.98-7520C= c.28G= (p.Gly10=) | |
2 | g.208129536C>G | CA350096979 | CRYGC | c.157G>C (p.Gly53Arg) n.98-7520C>G c.28G>C (p.Gly10Arg) | |
2 | g.208129536C>T | CA350096982 | CRYGC | c.157G>A (p.Gly53Ser) n.98-7520C>T c.28G>A (p.Gly10Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129537T>A | CA350096985 | CRYGC | c.156A>T (p.Gln52His) n.98-7519T>A c.27A>T (p.Gln9His) | gnomAD v4 |
2 | g.208129537T>C | CA431116202 | CRYGC | c.156A>G (p.Gln52=) n.98-7519T>C c.27A>G (p.Gln9=) | |
2 | g.208129537T>G | CA350096988 | CRYGC | c.156A>C (p.Gln52His) n.98-7519T>G c.27A>C (p.Gln9His) | |
2 | g.208129538T>A | CA350096996 | CRYGC | c.155A>T (p.Gln52Leu) n.98-7518T>A c.26A>T (p.Gln9Leu) | |
2 | g.208129538T>C | CA350096998 | CRYGC | c.155A>G (p.Gln52Arg) n.98-7518T>C c.26A>G (p.Gln9Arg) | dbSNP |
2 | g.208129538T>G | CA350097010 | CRYGC | c.155A>C (p.Gln52Pro) n.98-7518T>G c.26A>C (p.Gln9Pro) | ClinVar dbSNP |
2 | g.208129538T= | CA1323931418 | CRYGC | c.155A= (p.Gln52=) n.98-7518T= c.26A= (p.Gln9=) | |
2 | g.208129539G>A | CA350097012 | CRYGC | c.154C>T (p.Gln52Ter) n.98-7517G>A c.25C>T (p.Gln9Ter) | gnomAD v4 |
2 | g.208129539G>C | CA350097017 | CRYGC | c.154C>G (p.Gln52Glu) n.98-7517G>C c.25C>G (p.Gln9Glu) | |
2 | g.208129539G= | CA1323931419 | CRYGC | c.154C= (p.Gln52=) n.98-7517G= c.25C= (p.Gln9=) | |
2 | g.208129539G>T | CA350097011 | CRYGC | c.154C>A (p.Gln52Lys) n.98-7517G>T c.25C>A (p.Gln9Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129540G>A | CA431116203 | CRYGC | c.153C>T (p.Tyr51=) n.98-7516G>A c.24C>T (p.Tyr8=) | |
2 | g.208129540G>C | CA350097019 | CRYGC | c.153C>G (p.Tyr51Ter) n.98-7516G>C c.24C>G (p.Tyr8Ter) | |
2 | g.208129540G>T | CA350097018 | CRYGC | c.153C>A (p.Tyr51Ter) n.98-7516G>T c.24C>A (p.Tyr8Ter) | |
2 | g.208129541T>A | CA350097021 | CRYGC | c.152A>T (p.Tyr51Phe) n.98-7515T>A c.23A>T (p.Tyr8Phe) | |
2 | g.208129541T>C | CA2077935 | CRYGC | c.152A>G (p.Tyr51Cys) n.98-7515T>C c.23A>G (p.Tyr8Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129541T>G | CA350097027 | CRYGC | c.152A>C (p.Tyr51Ser) n.98-7515T>G c.23A>C (p.Tyr8Ser) | |
2 | g.208129541T= | CA1323931420 | CRYGC | c.152A= (p.Tyr51=) n.98-7515T= c.23A= (p.Tyr8=) | |
2 | g.208129542A>C | CA350097043 | CRYGC | c.151T>G (p.Tyr51Asp) n.98-7514A>C c.22T>G (p.Tyr8Asp) | |
2 | g.208129542A>G | CA350097045 | CRYGC | c.151T>C (p.Tyr51His) n.98-7514A>G c.22T>C (p.Tyr8His) | |
2 | g.208129542A>T | CA350097048 | CRYGC | c.151T>A (p.Tyr51Asn) n.98-7514A>T c.22T>A (p.Tyr8Asn) | |
2 | g.208129543G>A | CA431116207 | CRYGC | c.150C>T (p.Asn50=) n.98-7513G>A c.21C>T (p.Asn7=) | gnomAD v4 |
2 | g.208129543G>C | CA350097050 | CRYGC | c.150C>G (p.Asn50Lys) n.98-7513G>C c.21C>G (p.Asn7Lys) | |
2 | g.208129543G>T | CA350097052 | CRYGC | c.150C>A (p.Asn50Lys) n.98-7513G>T c.21C>A (p.Asn7Lys) | |
2 | g.208129544T>A | CA350097055 | CRYGC | c.149A>T (p.Asn50Ile) n.98-7512T>A c.20A>T (p.Asn7Ile) | gnomAD v4 |
2 | g.208129544T>C | CA2077936 | CRYGC | c.149A>G (p.Asn50Ser) n.98-7512T>C c.20A>G (p.Asn7Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129544T>G | CA350097061 | CRYGC | c.149A>C (p.Asn50Thr) n.98-7512T>G c.20A>C (p.Asn7Thr) | |
2 | g.208129544T= | CA1323931421 | CRYGC | c.149A= (p.Asn50=) n.98-7512T= c.20A= (p.Asn7=) | |
2 | g.208129545T>A | CA350097074 | CRYGC | c.148A>T (p.Asn50Tyr) n.98-7511T>A c.19A>T (p.Asn7Tyr) | |
2 | g.208129545T>C | CA350097069 | CRYGC | c.148A>G (p.Asn50Asp) n.98-7511T>C c.19A>G (p.Asn7Asp) | |
2 | g.208129545T>G | CA350097066 | CRYGC | c.148A>C (p.Asn50His) n.98-7511T>G c.19A>C (p.Asn7His) | |
2 | g.208129546G>A | CA431116212 | CRYGC | c.147C>T (p.Pro49=) n.98-7510G>A c.18C>T (p.Pro6=) | |
2 | g.208129546G>C | CA431116213 | CRYGC | c.147C>G (p.Pro49=) n.98-7510G>C c.18C>G (p.Pro6=) | gnomAD v4 |
2 | g.208129546G>T | CA431116214 | CRYGC | c.147C>A (p.Pro49=) n.98-7510G>T c.18C>A (p.Pro6=) | COSMIC |
2 | g.208129547G>A | CA350097078 | CRYGC | c.146C>T (p.Pro49Leu) n.98-7509G>A c.17C>T (p.Pro6Leu) | |
2 | g.208129547G>C | CA350097081 | CRYGC | c.146C>G (p.Pro49Arg) n.98-7509G>C c.17C>G (p.Pro6Arg) | gnomAD v4 |
2 | g.208129547G>T | CA350097084 | CRYGC | c.146C>A (p.Pro49His) n.98-7509G>T c.17C>A (p.Pro6His) | |
2 | g.208129548G>A | CA350097087 | CRYGC | c.145C>T (p.Pro49Ser) n.98-7508G>A c.16C>T (p.Pro6Ser) | |
2 | g.208129548G>C | CA350097090 | CRYGC | c.145C>G (p.Pro49Ala) n.98-7508G>C c.16C>G (p.Pro6Ala) | |
2 | g.208129548G= | CA1323931422 | CRYGC | c.145C= (p.Pro49=) n.98-7508G= c.16C= (p.Pro6=) | |
2 | g.208129548G>T | CA350097093 | CRYGC | c.145C>A (p.Pro49Thr) n.98-7508G>T c.16C>A (p.Pro6Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129549A= | CA1323931423 | CRYGC | c.144T= (p.Arg48=) n.98-7507A= c.15T= (p.Arg5=) | |
2 | g.208129549A>C | CA431116221 | CRYGC | c.144T>G (p.Arg48=) n.98-7507A>C c.15T>G (p.Arg5=) | |
2 | g.208129549A>G | CA2077937 | CRYGC | c.144T>C (p.Arg48=) n.98-7507A>G c.15T>C (p.Arg5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129549A>T | CA431116218 | CRYGC | c.144T>A (p.Arg48=) n.98-7507A>T c.15T>A (p.Arg5=) | dbSNP |
2 | g.208129550C>A | CA350097101 | CRYGC | c.143G>T (p.Arg48Leu) n.98-7506C>A c.14G>T (p.Arg5Leu) | |
2 | g.208129550C= | CA1323931424 | CRYGC | c.143G= (p.Arg48=) n.98-7506C= c.14G= (p.Arg5=) | |
2 | g.208129550C>G | CA350097104 | CRYGC | c.143G>C (p.Arg48Pro) n.98-7506C>G c.14G>C (p.Arg5Pro) | |
2 | g.208129550C>T | CA2077938 | CRYGC | c.143G>A (p.Arg48His) n.98-7506C>T c.14G>A (p.Arg5His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129551G>A | CA2077939 | CRYGC | c.142C>T (p.Arg48Cys) n.98-7505G>A c.13C>T (p.Arg5Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208129551G>C | CA350097120 | CRYGC | c.142C>G (p.Arg48Gly) n.98-7505G>C c.13C>G (p.Arg5Gly) | |
2 | g.208129551G= | CA1323931425 | CRYGC | c.142C= (p.Arg48=) n.98-7505G= c.13C= (p.Arg5=) | |
2 | g.208129551G>T | CA350097125 | CRYGC | c.142C>A (p.Arg48Ser) n.98-7505G>T c.13C>A (p.Arg5Ser) | dbSNP COSMIC |
2 | g.208129552C>A | CA350097132 | CRYGC | c.141G>T (p.Glu47Asp) n.98-7504C>A c.12G>T (p.Glu4Asp) | |
2 | g.208129552C= | CA1323931426 | CRYGC | c.141G= (p.Glu47=) n.98-7504C= c.12G= (p.Glu4=) | |
2 | g.208129552C>G | CA350097129 | CRYGC | c.141G>C (p.Glu47Asp) n.98-7504C>G c.12G>C (p.Glu4Asp) | |
2 | g.208129552C>T | CA431116225 | CRYGC | c.141G>A (p.Glu47=) n.98-7504C>T c.12G>A (p.Glu4=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129553T>A | CA350097135 | CRYGC | c.140A>T (p.Glu47Val) n.98-7503T>A c.11A>T (p.Glu4Val) | |
2 | g.208129553T>C | CA350097137 | CRYGC | c.140A>G (p.Glu47Gly) n.98-7503T>C c.11A>G (p.Glu4Gly) | |
2 | g.208129553T>G | CA350097136 | CRYGC | c.140A>C (p.Glu47Ala) n.98-7503T>G c.11A>C (p.Glu4Ala) | |
2 | g.208129554C>A | CA350097139 | CRYGC | c.139G>T (p.Glu47Ter) n.98-7502C>A c.10G>T (p.Glu4Ter) | |
2 | g.208129554C>G | CA350097141 | CRYGC | c.139G>C (p.Glu47Gln) n.98-7502C>G c.10G>C (p.Glu4Gln) | gnomAD v4 |
2 | g.208129554C>T | CA350097151 | CRYGC | c.139G>A (p.Glu47Lys) n.98-7502C>T c.10G>A (p.Glu4Lys) | |
2 | g.208129555A>C | CA350097152 | CRYGC | c.138T>G (p.Tyr46Ter) n.98-7501A>C c.9T>G (p.Tyr3Ter) | |
2 | g.208129555A>G | CA431116229 | CRYGC | c.138T>C (p.Tyr46=) n.98-7501A>G c.9T>C (p.Tyr3=) | gnomAD v4 |
2 | g.208129555A>T | CA350097154 | CRYGC | c.138T>A (p.Tyr46Ter) n.98-7501A>T c.9T>A (p.Tyr3Ter) | |
2 | g.208129556T>A | CA350097156 | CRYGC | c.137A>T (p.Tyr46Phe) n.98-7500T>A c.8A>T (p.Tyr3Phe) | |
2 | g.208129556T>C | CA2077940 | CRYGC | c.137A>G (p.Tyr46Cys) n.98-7500T>C c.8A>G (p.Tyr3Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129556T>G | CA350097160 | CRYGC | c.137A>C (p.Tyr46Ser) n.98-7500T>G c.8A>C (p.Tyr3Ser) | |
2 | g.208129556T= | CA1323931427 | CRYGC | c.137A= (p.Tyr46=) n.98-7500T= c.8A= (p.Tyr3=) | |
2 | g.208129557A= | CA1323931428 | CRYGC | c.136T= (p.Tyr46=) n.98-7499A= c.7T= (p.Tyr3=) | |
2 | g.208129557A>C | CA350097163 | CRYGC | c.136T>G (p.Tyr46Asp) n.98-7499A>C c.7T>G (p.Tyr3Asp) | |
2 | g.208129557A>G | CA350097164 | CRYGC | c.136T>C (p.Tyr46His) n.98-7499A>G c.7T>C (p.Tyr3His) | dbSNP gnomAD v2 |
2 | g.208129557A>T | CA350097166 | CRYGC | c.136T>A (p.Tyr46Asn) n.98-7499A>T c.7T>A (p.Tyr3Asn) | |
2 | g.208129558G>A | CA431116231 | CRYGC | c.135C>T (p.Leu45=) n.98-7498G>A c.6C>T (p.Leu2=) | gnomAD v4 |
2 | g.208129558G>C | CA431116232 | CRYGC | c.135C>G (p.Leu45=) n.98-7498G>C c.6C>G (p.Leu2=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208129558G= | CA1323931429 | CRYGC | c.135C= (p.Leu45=) n.98-7498G= c.6C= (p.Leu2=) | |
2 | g.208129558G>T | CA431116233 | CRYGC | c.135C>A (p.Leu45=) n.98-7498G>T c.6C>A (p.Leu2=) | |
2 | g.208129559A>C | CA350097171 | CRYGC | c.134T>G (p.Leu45Arg) n.98-7497A>C c.5T>G (p.Leu2Arg) | |
2 | g.208129559A>G | CA350097170 | CRYGC | c.134T>C (p.Leu45Pro) n.98-7497A>G c.5T>C (p.Leu2Pro) | |
2 | g.208129559A>T | CA350097168 | CRYGC | c.134T>A (p.Leu45His) n.98-7497A>T c.5T>A (p.Leu2His) | |
2 | g.208129563_208129569del | CA2662869241 | CRYGC | c.128_134del (p.Trp43SerfsTer?) n.98-7493_98-7487del c.-2_5del | gnomAD v4 |
2 | g.208129560G>A | CA350097175 | CRYGC | c.133C>T (p.Leu45Phe) n.98-7496G>A c.4C>T (p.Leu2Phe) | gnomAD v4 |
2 | g.208129560G>C | CA350097177 | CRYGC | c.133C>G (p.Leu45Val) n.98-7496G>C c.4C>G (p.Leu2Val) | |
2 | g.208129560G= | CA1323931430 | CRYGC | c.133C= (p.Leu45=) n.98-7496G= c.4C= (p.Leu2=) | |
2 | g.208129560G>T | CA350097180 | CRYGC | c.133C>A (p.Leu45Ile) n.98-7496G>T c.4C>A (p.Leu2Ile) | dbSNP gnomAD v4 |
2 | g.208129561C>A | CA350097183 | CRYGC | c.132G>T (p.Met44Ile) n.98-7495C>A c.3G>T (p.Met1Ile) | |
2 | g.208129561C>G | CA350097185 | CRYGC | c.132G>C (p.Met44Ile) n.98-7495C>G c.3G>C (p.Met1Ile) | |
2 | g.208129561C>T | CA350097186 | CRYGC | c.132G>A (p.Met44Ile) n.98-7495C>T c.3G>A (p.Met1Ile) | |
2 | g.208129562A= | CA1323931431 | CRYGC | c.131T= (p.Met44=) n.98-7494A= c.2T= (p.Met1=) | |
2 | g.208129562A>C | CA350097189 | CRYGC | c.131T>G (p.Met44Arg) n.98-7494A>C c.2T>G (p.Met1Arg) | |
2 | g.208129562A>G | CA2077941 | CRYGC | c.131T>C (p.Met44Thr) n.98-7494A>G c.2T>C (p.Met1Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129562A>T | CA350097192 | CRYGC | c.131T>A (p.Met44Lys) n.98-7494A>T c.2T>A (p.Met1Lys) | |
2 | g.208129563del | CA2586971173 | CRYGC | c.130del (p.Met44CysfsTer?) n.98-7493del c.1del (p.Met1CysfsTer?) | |
2 | g.208129563T>A | CA350097195 | CRYGC | c.130A>T (p.Met44Leu) n.98-7493T>A c.1A>T (p.Met1Leu) | |
2 | g.208129563T>C | CA350097197 | CRYGC | c.130A>G (p.Met44Val) n.98-7493T>C c.1A>G (p.Met1Val) | dbSNP |
2 | g.208129563T>G | CA350097200 | CRYGC | c.130A>C (p.Met44Leu) n.98-7493T>G c.1A>C (p.Met1Leu) | |
2 | g.208129563T= | CA1323931432 | CRYGC | c.130A= (p.Met44=) n.98-7493T= c.1A= (p.Met1=) | |
2 | g.208129564C>A | CA350097210 | CRYGC | c.129G>T (p.Trp43Cys) n.98-7492C>A c.-1G>T (n.-1G>T) | |
2 | g.208129564C>G | CA350097207 | CRYGC | c.129G>C (p.Trp43Cys) n.98-7492C>G c.-1G>C (n.-1G>C) | |
2 | g.208129564C>T | CA350097204 | CRYGC | c.129G>A (p.Trp43Ter) n.98-7492C>T c.-1G>A (n.-1G>A) | |
2 | g.208129565C>A | CA350097213 | CRYGC | c.128G>T (p.Trp43Leu) n.98-7491C>A c.-2G>T (n.-2G>T) | |
2 | g.208129565C= | CA1323931433 | CRYGC | c.128G= (p.Trp43=) n.98-7491C= c.-2G= (n.-2G=) | |
2 | g.208129565C>G | CA350097215 | CRYGC | c.128G>C (p.Trp43Ser) n.98-7491C>G c.-2G>C (n.-2G>C) | |
2 | g.208129565C>T | CA350097214 | CRYGC | c.128G>A (p.Trp43Ter) n.98-7491C>T c.-2G>A (n.-2G>A) | dbSNP |
2 | g.208129566A>C | CA350097218 | CRYGC | c.127T>G (p.Trp43Gly) n.98-7490A>C c.-3T>G (n.-3T>G) | |
2 | g.208129566A>G | CA350097231 | CRYGC | c.127T>C (p.Trp43Arg) n.98-7490A>G c.-3T>C (n.-3T>C) | |
2 | g.208129566A>T | CA350097222 | CRYGC | c.127T>A (p.Trp43Arg) n.98-7490A>T c.-3T>A (n.-3T>A) | |
2 | g.208129567G>A | CA431116237 | CRYGC | c.126C>T (p.Cys42=) n.98-7489G>A c.-4C>T (n.-4C>T) | dbSNP gnomAD v2 |
2 | g.208129567G>C | CA2077942 | CRYGC | c.126C>G (p.Cys42Trp) n.98-7489G>C c.-4C>G (n.-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129567G= | CA1323931434 | CRYGC | c.126C= (p.Cys42=) n.98-7489G= c.-4C= (n.-4C=) | |
2 | g.208129567G>T | CA350097237 | CRYGC | c.126C>A (p.Cys42Ter) n.98-7489G>T c.-4C>A (n.-4C>A) | |
2 | g.208129568C>A | CA350097240 | CRYGC | c.125G>T (p.Cys42Phe) n.98-7488C>A c.-5G>T (n.-5G>T) | |
2 | g.208129568C= | CA1323931435 | CRYGC | c.125G= (p.Cys42=) n.98-7488C= c.-5G= (n.-5G=) | |
2 | g.208129568C>G | CA350097242 | CRYGC | c.125G>C (p.Cys42Ser) n.98-7488C>G c.-5G>C (n.-5G>C) | |
2 | g.208129568C>T | CA350097244 | CRYGC | c.125G>A (p.Cys42Tyr) n.98-7488C>T c.-5G>A (n.-5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129569del | CA2586971174 | CRYGC | c.124del (p.Cys42AlafsTer?) n.98-7487del c.-6del (n.-6del) | |
2 | g.208129569A= | CA1323931436 | CRYGC | c.124T= (p.Cys42=) n.98-7487A= c.-6T= (n.-6T=) | |
2 | g.208129569A>C | CA350097247 | CRYGC | c.124T>G (p.Cys42Gly) n.98-7487A>C c.-6T>G (n.-6T>G) | |
2 | g.208129569A>G | CA2077943 | CRYGC | c.124T>C (p.Cys42Arg) n.98-7487A>G c.-6T>C (n.-6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129569A>T | CA350097250 | CRYGC | c.124T>A (p.Cys42Ser) n.98-7487A>T c.-6T>A (n.-6T>A) | |
2 | g.208129570G>A | CA2077944 | CRYGC | c.123C>T (p.Gly41=) n.98-7486G>A c.-7C>T (n.-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129570G>C | CA431116238 | CRYGC | c.123C>G (p.Gly41=) n.98-7486G>C c.-7C>G (n.-7C>G) | |
2 | g.208129570G= | CA1323931437 | CRYGC | c.123C= (p.Gly41=) n.98-7486G= c.-7C= (n.-7C=) | |
2 | g.208129570G>T | CA431116239 | CRYGC | c.123C>A (p.Gly41=) n.98-7486G>T c.-7C>A (n.-7C>A) | |
2 | g.208129570_208129574dup | CA1139657648 | CRYGC | c.119_123dup (p.Cys42AlafsTer?) n.98-7486_98-7482dup c.-11_-7dup (n.-11_-7dup) | ClinVar dbSNP |
2 | g.208129571C>A | CA350097261 | CRYGC | c.122G>T (p.Gly41Val) n.98-7485C>A c.-8G>T (n.-8G>T) | |
2 | g.208129571C>G | CA350097267 | CRYGC | c.122G>C (p.Gly41Ala) n.98-7485C>G c.-8G>C (n.-8G>C) | |
2 | g.208129571C>T | CA350097269 | CRYGC | c.122G>A (p.Gly41Asp) n.98-7485C>T c.-8G>A (n.-8G>A) | |
2 | g.208129572C>A | CA350097273 | CRYGC | c.121G>T (p.Gly41Cys) n.98-7484C>A c.-9G>T (n.-9G>T) | |
2 | g.208129572C= | CA1323931438 | CRYGC | c.121G= (p.Gly41=) n.98-7484C= c.-9G= (n.-9G=) | |
2 | g.208129572C>G | CA350097271 | CRYGC | c.121G>C (p.Gly41Arg) n.98-7484C>G c.-9G>C (n.-9G>C) | |
2 | g.208129572C>T | CA2077945 | CRYGC | c.121G>A (p.Gly41Ser) n.98-7484C>T c.-9G>A (n.-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129573G>A | CA2077946 | CRYGC | c.120C>T (p.Ser40=) n.98-7483G>A c.-10C>T (n.-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129573G>C | CA350097279 | CRYGC | c.120C>G (p.Ser40Arg) n.98-7483G>C c.-10C>G (n.-10C>G) | |
2 | g.208129573G= | CA1323931439 | CRYGC | c.120C= (p.Ser40=) n.98-7483G= c.-10C= (n.-10C=) | |
2 | g.208129573G>T | CA2077947 | CRYGC | c.120C>A (p.Ser40Arg) n.98-7483G>T c.-10C>A (n.-10C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129574C>A | CA350097284 | CRYGC | c.119G>T (p.Ser40Ile) n.98-7482C>A c.-11G>T (n.-11G>T) | |
2 | g.208129574C= | CA1323931440 | CRYGC | c.119G= (p.Ser40=) n.98-7482C= c.-11G= (n.-11G=) | |
2 | g.208129574C>G | CA350097285 | CRYGC | c.119G>C (p.Ser40Thr) n.98-7482C>G c.-11G>C (n.-11G>C) | |
2 | g.208129574C>T | CA350097287 | CRYGC | c.119G>A (p.Ser40Asn) n.98-7482C>T c.-11G>A (n.-11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129575T>A | CA350097289 | CRYGC | c.118A>T (p.Ser40Cys) n.98-7481T>A c.-12A>T (n.-12A>T) | |
2 | g.208129575T>C | CA350097291 | CRYGC | c.118A>G (p.Ser40Gly) n.98-7481T>C c.-12A>G (n.-12A>G) | dbSNP |
2 | g.208129575T>G | CA350097293 | CRYGC | c.118A>C (p.Ser40Arg) n.98-7481T>G c.-12A>C (n.-12A>C) | |
2 | g.208129575T= | CA1323931441 | CRYGC | c.118A= (p.Ser40=) n.98-7481T= c.-12A= (n.-12A=) | |
2 | g.208129576C>A | CA350097296 | CRYGC | c.117G>T (p.Glu39Asp) n.98-7480C>A c.-13G>T (n.-13G>T) | |
2 | g.208129576C= | CA1323931442 | CRYGC | c.117G= (p.Glu39=) n.98-7480C= c.-13G= (n.-13G=) | |
2 | g.208129576C>G | CA350097298 | CRYGC | c.117G>C (p.Glu39Asp) n.98-7480C>G c.-13G>C (n.-13G>C) | |
2 | g.208129576C>T | CA64611606 | CRYGC | c.117G>A (p.Glu39=) n.98-7480C>T c.-13G>A (n.-13G>A) | dbSNP |
2 | g.208129577T>A | CA350097301 | CRYGC | c.116A>T (p.Glu39Val) n.98-7479T>A c.-14A>T (n.-14A>T) | |
2 | g.208129577T>C | CA350097300 | CRYGC | c.116A>G (p.Glu39Gly) n.98-7479T>C c.-14A>G (n.-14A>G) | dbSNP |
2 | g.208129577T>G | CA350097299 | CRYGC | c.116A>C (p.Glu39Ala) n.98-7479T>G c.-14A>C (n.-14A>C) | |
2 | g.208129577T= | CA1323931443 | CRYGC | c.116A= (p.Glu39=) n.98-7479T= c.-14A= (n.-14A=) | |
2 | g.208129578C>A | CA350097306 | CRYGC | c.115G>T (p.Glu39Ter) n.98-7478C>A c.-15G>T (n.-15G>T) | |
2 | g.208129578C>G | CA350097302 | CRYGC | c.115G>C (p.Glu39Gln) n.98-7478C>G c.-15G>C (n.-15G>C) | |
2 | g.208129578C>T | CA350097304 | CRYGC | c.115G>A (p.Glu39Lys) n.98-7478C>T c.-15G>A (n.-15G>A) | gnomAD v4 |
2 | g.208129579C>A | CA431116240 | CRYGC | c.114G>T (p.Val38=) n.98-7477C>A c.-16G>T (n.-16G>T) | |
2 | g.208129579C>G | CA431116241 | CRYGC | c.114G>C (p.Val38=) n.98-7477C>G c.-16G>C (n.-16G>C) | |
2 | g.208129579C>T | CA431116242 | CRYGC | c.114G>A (p.Val38=) n.98-7477C>T c.-16G>A (n.-16G>A) | gnomAD v4 COSMIC |
2 | g.208129580A>C | CA350097308 | CRYGC | c.113T>G (p.Val38Gly) n.98-7476A>C c.-17T>G (n.-17T>G) | |
2 | g.208129580A>G | CA350097310 | CRYGC | c.113T>C (p.Val38Ala) n.98-7476A>G c.-17T>C (n.-17T>C) | gnomAD v4 |
2 | g.208129580A>T | CA350097311 | CRYGC | c.113T>A (p.Val38Glu) n.98-7476A>T c.-17T>A (n.-17T>A) | gnomAD v4 |
2 | g.208129581C>A | CA350097316 | CRYGC | c.112G>T (p.Val38Leu) n.98-7475C>A c.-18G>T (n.-18G>T) | |
2 | g.208129581C>G | CA350097315 | CRYGC | c.112G>C (p.Val38Leu) n.98-7475C>G c.-18G>C (n.-18G>C) | |
2 | g.208129581C>T | CA350097313 | CRYGC | c.112G>A (p.Val38Met) n.98-7475C>T c.-18G>A (n.-18G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129582C>A | CA431116243 | CRYGC | c.111G>T (p.Arg37=) n.98-7474C>A c.-19G>T (n.-19G>T) | gnomAD v4 |
2 | g.208129582C>G | CA431116245 | CRYGC | c.111G>C (p.Arg37=) n.98-7474C>G c.-19G>C (n.-19G>C) | |
2 | g.208129582C>T | CA431116244 | CRYGC | c.111G>A (p.Arg37=) n.98-7474C>T c.-19G>A (n.-19G>A) |