Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208129406_208129408delinsACT | CA1323931352 | CRYGC | c.252+33_252+35delinsAGT (n.252+33_252+35delinsAGT) n.98-7650_98-7648delinsACT c.123+33_123+35delinsAGT (n.123+33_123+35delinsAGT) | |
2 | g.208129409_208129410del | CA539074885 | CRYGC | c.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 |
2 | g.208129408T>C | CA64611274 | CRYGC | c.252+33A>G (n.252+33A>G) n.98-7648T>C c.123+33A>G (n.123+33A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129408T>G | CA2077902 | CRYGC | c.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 |
2 | g.208129408T= | CA1323931353 | CRYGC | c.252+33A= (n.252+33A=) n.98-7648T= c.123+33A= (n.123+33A=) | |
2 | g.208129410T>A | CA64611277 | CRYGC | c.252+31A>T (n.252+31A>T) n.98-7646T>A c.123+31A>T (n.123+31A>T) | dbSNP |
2 | g.208129410T>C | CA539074886 | CRYGC | c.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 |
2 | g.208129410T= | CA1323931354 | CRYGC | c.252+31A= (n.252+31A=) n.98-7646T= c.123+31A= (n.123+31A=) | |
2 | g.208129411G>A | CA763929108 | CRYGC | c.252+30C>T (n.252+30C>T) n.98-7645G>A c.123+30C>T (n.123+30C>T) | dbSNP |
2 | g.208129411G= | CA1323931355 | CRYGC | c.252+30C= (n.252+30C=) n.98-7645G= c.123+30C= (n.123+30C=) | |
2 | g.208129413C>A | CA2077904 | CRYGC | c.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 |
2 | g.208129413C= | CA1323931356 | CRYGC | c.252+28G= (n.252+28G=) n.98-7643C= c.123+28G= (n.123+28G=) | |
2 | g.208129413C>T | CA2077903 | CRYGC | c.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 |
2 | g.208129414G>A | CA2077905 | CRYGC | c.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 |
2 | g.208129414G= | CA1323931357 | CRYGC | c.252+27C= (n.252+27C=) n.98-7642G= c.123+27C= (n.123+27C=) | |
2 | g.208129414G>T | CA2662869226 | CRYGC | c.252+27C>A (n.252+27C>A) n.98-7642G>T c.123+27C>A (n.123+27C>A) | gnomAD v4 |
2 | g.208129415G>A | CA539388964 | CRYGC | c.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 |
2 | g.208129415G>C | CA539388965 | CRYGC | c.252+26C>G (n.252+26C>G) n.98-7641G>C c.123+26C>G (n.123+26C>G) | dbSNP gnomAD v2 |
2 | g.208129415G= | CA1323931358 | CRYGC | c.252+26C= (n.252+26C=) n.98-7641G= c.123+26C= (n.123+26C=) | |
2 | g.208129415G>T | CA2077906 | CRYGC | c.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 |
2 | g.208129417A>G | CA2662869228 | CRYGC | c.252+24T>C (n.252+24T>C) n.98-7639A>G c.123+24T>C (n.123+24T>C) | gnomAD v4 |
2 | g.208129418T>C | CA2662869229 | CRYGC | c.252+23A>G (n.252+23A>G) n.98-7638T>C c.123+23A>G (n.123+23A>G) | gnomAD v4 |
2 | g.208129420A>C | CA2662869230 | CRYGC | c.252+21T>G (n.252+21T>G) n.98-7636A>C c.123+21T>G (n.123+21T>G) | gnomAD v4 |
2 | g.208129421T>C | CA2662869231 | CRYGC | c.252+20A>G (n.252+20A>G) n.98-7635T>C c.123+20A>G (n.123+20A>G) | gnomAD v4 |
2 | g.208129425A= | CA1323931359 | CRYGC | c.252+16T= (n.252+16T=) n.98-7631A= c.123+16T= (n.123+16T=) | |
2 | g.208129425A>C | CA2077907 | CRYGC | c.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 |
2 | g.208129426A= | CA1323931360 | CRYGC | c.252+15T= (n.252+15T=) n.98-7630A= c.123+15T= (n.123+15T=) | |
2 | g.208129426A>G | CA2077908 | CRYGC | c.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 |
2 | g.208129427T>C | CA2077909 | CRYGC | c.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 |
2 | g.208129427T= | CA1323931361 | CRYGC | c.252+14A= (n.252+14A=) n.98-7629T= c.123+14A= (n.123+14A=) | |
2 | g.208129428C>G | CA2662869232 | CRYGC | c.252+13G>C (n.252+13G>C) n.98-7628C>G c.123+13G>C (n.123+13G>C) | gnomAD v4 |
2 | g.208129429T>C | CA1323931362 | CRYGC | c.252+12A>G (n.252+12A>G) n.98-7627T>C c.123+12A>G (n.123+12A>G) | dbSNP |
2 | g.208129429T= | CA1323931363 | CRYGC | c.252+12A= (n.252+12A=) n.98-7627T= c.123+12A= (n.123+12A=) | |
2 | g.208129435dup | CA2843123370 | CRYGC | c.252+9dup (n.252+9dup) n.98-7621dup c.123+9dup (n.123+9dup) | |
2 | g.208129433A= | CA1323931364 | CRYGC | c.252+8T= (n.252+8T=) n.98-7623A= c.123+8T= (n.123+8T=) | |
2 | g.208129433A>C | CA2662869233 | CRYGC | c.252+8T>G (n.252+8T>G) n.98-7623A>C c.123+8T>G (n.123+8T>G) | gnomAD v4 |
2 | g.208129433A>G | CA539388966 | CRYGC | c.252+8T>C (n.252+8T>C) n.98-7623A>G c.123+8T>C (n.123+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129435A>C | CA2577225926 | CRYGC | c.252+6T>G (n.252+6T>G) n.98-7621A>C c.123+6T>G (n.123+6T>G) | |
2 | g.208129436C= | CA1323931365 | CRYGC | c.252+5G= (n.252+5G=) n.98-7620C= c.123+5G= (n.123+5G=) | |
2 | g.208129436C>G | CA1323931366 | CRYGC | c.252+5G>C (n.252+5G>C) n.98-7620C>G c.123+5G>C (n.123+5G>C) | dbSNP |
2 | g.208129436C>T | CA539388967 | CRYGC | c.252+5G>A (n.252+5G>A) n.98-7620C>T c.123+5G>A (n.123+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129439A= | CA1323931367 | CRYGC | c.252+2T= (n.252+2T=) n.98-7617A= c.123+2T= (n.123+2T=) | |
2 | g.208129439A>C | CA350095949 | CRYGC | c.252+2T>G (n.252+2T>G) n.98-7617A>C c.123+2T>G (n.123+2T>G) | |
2 | g.208129439A>G | CA350095950 | CRYGC | c.252+2T>C (n.252+2T>C) n.98-7617A>G c.123+2T>C (n.123+2T>C) | dbSNP gnomAD v4 |
2 | g.208129439A>T | CA350095951 | CRYGC | c.252+2T>A (n.252+2T>A) n.98-7617A>T c.123+2T>A (n.123+2T>A) | |
2 | g.208129440C>A | CA350095954 | CRYGC | c.252+1G>T (n.252+1G>T) n.98-7616C>A c.123+1G>T (n.123+1G>T) | |
2 | g.208129440C>G | CA350095957 | CRYGC | c.252+1G>C (n.252+1G>C) n.98-7616C>G c.123+1G>C (n.123+1G>C) | |
2 | g.208129440C>T | CA350095958 | CRYGC | c.252+1G>A (n.252+1G>A) n.98-7616C>T c.123+1G>A (n.123+1G>A) | |
2 | g.208129441T>A | CA350095962 | CRYGC | c.252A>T (p.Gln84His) n.98-7615T>A c.123A>T (p.Gln41His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129441T>C | CA431116053 | CRYGC | c.252A>G (p.Gln84=) n.98-7615T>C c.123A>G (p.Gln41=) | gnomAD v4 |
2 | g.208129441T>G | CA350095964 | CRYGC | c.252A>C (p.Gln84His) n.98-7615T>G c.123A>C (p.Gln41His) | |
2 | g.208129442T>A | CA350095969 | CRYGC | c.251A>T (p.Gln84Leu) n.98-7614T>A c.122A>T (p.Gln41Leu) | |
2 | g.208129442T>C | CA350095972 | CRYGC | c.251A>G (p.Gln84Arg) n.98-7614T>C c.122A>G (p.Gln41Arg) | COSMIC |
2 | g.208129442T>G | CA350095974 | CRYGC | c.251A>C (p.Gln84Pro) n.98-7614T>G c.122A>C (p.Gln41Pro) | |
2 | g.208129443G>A | CA350095977 | CRYGC | c.250C>T (p.Gln84Ter) n.98-7613G>A c.121C>T (p.Gln41Ter) | gnomAD v4 |
2 | g.208129443G>C | CA350095978 | CRYGC | c.250C>G (p.Gln84Glu) n.98-7613G>C c.121C>G (p.Gln41Glu) | dbSNP gnomAD v4 |
2 | g.208129443G= | CA1323931368 | CRYGC | c.250C= (p.Gln84=) n.98-7613G= c.121C= (p.Gln41=) | |
2 | g.208129443G>T | CA350095979 | CRYGC | c.250C>A (p.Gln84Lys) n.98-7613G>T c.121C>A (p.Gln41Lys) | gnomAD v4 |
2 | g.208129447dup | CA2838755435 | CRYGC | c.250dup (p.Gln84ProfsTer24) n.98-7609dup c.121dup (p.Gln41ProfsTer24) | |
2 | g.208129447del | CA431116055 | CRYGC | c.250del (p.Gln84LysfsTer19) n.98-7609del c.121del (p.Gln41LysfsTer19) | |
2 | g.208129444G>A | CA431116057 | CRYGC | c.249C>T (p.Pro83=) n.98-7612G>A c.120C>T (p.Pro40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129444G>C | CA431116059 | CRYGC | c.249C>G (p.Pro83=) n.98-7612G>C c.120C>G (p.Pro40=) | dbSNP |
2 | g.208129444G= | CA1323931369 | CRYGC | c.249C= (p.Pro83=) n.98-7612G= c.120C= (p.Pro40=) | |
2 | g.208129444G>T | CA431116060 | CRYGC | c.249C>A (p.Pro83=) n.98-7612G>T c.120C>A (p.Pro40=) | |
2 | g.208129445G>A | CA2077910 | CRYGC | c.248C>T (p.Pro83Leu) n.98-7611G>A c.119C>T (p.Pro40Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129445G>C | CA350095983 | CRYGC | c.248C>G (p.Pro83Arg) n.98-7611G>C c.119C>G (p.Pro40Arg) | |
2 | g.208129445G= | CA1323931370 | CRYGC | c.248C= (p.Pro83=) n.98-7611G= c.119C= (p.Pro40=) | |
2 | g.208129445G>T | CA350095988 | CRYGC | c.248C>A (p.Pro83His) n.98-7611G>T c.119C>A (p.Pro40His) | |
2 | g.208129446G>A | CA350095994 | CRYGC | c.247C>T (p.Pro83Ser) n.98-7610G>A c.118C>T (p.Pro40Ser) | |
2 | g.208129446G>C | CA350095996 | CRYGC | c.247C>G (p.Pro83Ala) n.98-7610G>C c.118C>G (p.Pro40Ala) | |
2 | g.208129446G>T | CA350096000 | CRYGC | c.247C>A (p.Pro83Thr) n.98-7610G>T c.118C>A (p.Pro40Thr) | |
2 | g.208129447G>A | CA64611323 | CRYGC | c.246C>T (p.Ile82=) n.98-7609G>A c.117C>T (p.Ile39=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208129447G>C | CA2077911 | CRYGC | c.246C>G (p.Ile82Met) n.98-7609G>C c.117C>G (p.Ile39Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129447G= | CA1323931371 | CRYGC | c.246C= (p.Ile82=) n.98-7609G= c.117C= (p.Ile39=) | |
2 | g.208129447G>T | CA431116067 | CRYGC | c.246C>A (p.Ile82=) n.98-7609G>T c.117C>A (p.Ile39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129447_208129448delinsGA | CA1323931372 | CRYGC | c.245_246delinsTC (p.Ile82=) n.98-7609_98-7608delinsGA c.116_117delinsTC (p.Ile39=) | |
2 | g.208129448del | CA539388968 | CRYGC | c.245del (p.Ile82ThrfsTer21) n.98-7608del c.116del (p.Ile39ThrfsTer21) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129448A>C | CA350096018 | CRYGC | c.245T>G (p.Ile82Ser) n.98-7608A>C c.116T>G (p.Ile39Ser) | |
2 | g.208129448A>G | CA350096011 | CRYGC | c.245T>C (p.Ile82Thr) n.98-7608A>G c.116T>C (p.Ile39Thr) | |
2 | g.208129448A>T | CA350096014 | CRYGC | c.245T>A (p.Ile82Asn) n.98-7608A>T c.116T>A (p.Ile39Asn) | |
2 | g.208129449T>A | CA350096024 | CRYGC | c.244A>T (p.Ile82Phe) n.98-7607T>A c.115A>T (p.Ile39Phe) | |
2 | g.208129449T>C | CA350096027 | CRYGC | c.244A>G (p.Ile82Val) n.98-7607T>C c.115A>G (p.Ile39Val) | dbSNP |
2 | g.208129449T>G | CA350096037 | CRYGC | c.244A>C (p.Ile82Leu) n.98-7607T>G c.115A>C (p.Ile39Leu) | gnomAD v4 |
2 | g.208129449T= | CA1323931373 | CRYGC | c.244A= (p.Ile82=) n.98-7607T= c.115A= (p.Ile39=) | |
2 | g.208129450G>A | CA431116071 | CRYGC | c.243C>T (p.Leu81=) n.98-7606G>A c.114C>T (p.Leu38=) | gnomAD v4 |
2 | g.208129450G>C | CA431116073 | CRYGC | c.243C>G (p.Leu81=) n.98-7606G>C c.114C>G (p.Leu38=) | |
2 | g.208129450G>T | CA431116074 | CRYGC | c.243C>A (p.Leu81=) n.98-7606G>T c.114C>A (p.Leu38=) | |
2 | g.208129451A= | CA1323931374 | CRYGC | c.242T= (p.Leu81=) n.98-7605A= c.113T= (p.Leu38=) | |
2 | g.208129451A>C | CA350096051 | CRYGC | c.242T>G (p.Leu81Arg) n.98-7605A>C c.113T>G (p.Leu38Arg) | |
2 | g.208129451A>G | CA350096046 | CRYGC | c.242T>C (p.Leu81Pro) n.98-7605A>G c.113T>C (p.Leu38Pro) | |
2 | g.208129451A>T | CA64611327 | CRYGC | c.242T>A (p.Leu81His) n.98-7605A>T c.113T>A (p.Leu38His) | dbSNP |
2 | g.208129452G>A | CA350096052 | CRYGC | c.241C>T (p.Leu81Phe) n.98-7604G>A c.112C>T (p.Leu38Phe) | |
2 | g.208129452G>C | CA350096056 | CRYGC | c.241C>G (p.Leu81Val) n.98-7604G>C c.112C>G (p.Leu38Val) | |
2 | g.208129452G>T | CA350096059 | CRYGC | c.241C>A (p.Leu81Ile) n.98-7604G>T c.112C>A (p.Leu38Ile) | |
2 | g.208129453A= | CA1323931375 | CRYGC | c.240T= (p.Cys80=) n.98-7603A= c.111T= (p.Cys37=) | |
2 | g.208129453A>C | CA350096062 | CRYGC | c.240T>G (p.Cys80Trp) n.98-7603A>C c.111T>G (p.Cys37Trp) | |
2 | g.208129453A>G | CA2077912 | CRYGC | c.240T>C (p.Cys80=) n.98-7603A>G c.111T>C (p.Cys37=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129453A>T | CA350096065 | CRYGC | c.240T>A (p.Cys80Ter) n.98-7603A>T c.111T>A (p.Cys37Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129454C>A | CA350096070 | CRYGC | c.239G>T (p.Cys80Phe) n.98-7602C>A c.110G>T (p.Cys37Phe) | |
2 | g.208129454C= | CA1323931376 | CRYGC | c.239G= (p.Cys80=) n.98-7602C= c.110G= (p.Cys37=) | |
2 | g.208129454C>G | CA2077913 | CRYGC | c.239G>C (p.Cys80Ser) n.98-7602C>G c.110G>C (p.Cys37Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129454C>T | CA350096073 | CRYGC | c.239G>A (p.Cys80Tyr) n.98-7602C>T c.110G>A (p.Cys37Tyr) | |
2 | g.208129455A= | CA1323931377 | CRYGC | c.238T= (p.Cys80=) n.98-7601A= c.109T= (p.Cys37=) | |
2 | g.208129455A>C | CA2077914 | CRYGC | c.238T>G (p.Cys80Gly) n.98-7601A>C c.109T>G (p.Cys37Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208129455A>G | CA350096084 | CRYGC | c.238T>C (p.Cys80Arg) n.98-7601A>G c.109T>C (p.Cys37Arg) | |
2 | g.208129455A>T | CA350096086 | CRYGC | c.238T>A (p.Cys80Ser) n.98-7601A>T c.109T>A (p.Cys37Ser) | |
2 | g.208129456A= | CA1323931378 | CRYGC | c.237T= (p.Cys79=) n.98-7600A= c.108T= (p.Cys36=) | |
2 | g.208129456A>C | CA350096087 | CRYGC | c.237T>G (p.Cys79Trp) n.98-7600A>C c.108T>G (p.Cys36Trp) | |
2 | g.208129456A>G | CA431116083 | CRYGC | c.237T>C (p.Cys79=) n.98-7600A>G c.108T>C (p.Cys36=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208129456A>T | CA2077915 | CRYGC | c.237T>A (p.Cys79Ter) n.98-7600A>T c.108T>A (p.Cys36Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129457C>A | CA350096089 | CRYGC | c.236G>T (p.Cys79Phe) n.98-7599C>A c.107G>T (p.Cys36Phe) | |
2 | g.208129457C>G | CA350096092 | CRYGC | c.236G>C (p.Cys79Ser) n.98-7599C>G c.107G>C (p.Cys36Ser) | |
2 | g.208129457C>T | CA350096094 | CRYGC | c.236G>A (p.Cys79Tyr) n.98-7599C>T c.107G>A (p.Cys36Tyr) | |
2 | g.208129458A>C | CA350096096 | CRYGC | c.235T>G (p.Cys79Gly) n.98-7598A>C c.106T>G (p.Cys36Gly) | |
2 | g.208129458A>G | CA350096099 | CRYGC | c.235T>C (p.Cys79Arg) n.98-7598A>G c.106T>C (p.Cys36Arg) | |
2 | g.208129458A>T | CA350096101 | CRYGC | c.235T>A (p.Cys79Ser) n.98-7598A>T c.106T>A (p.Cys36Ser) | gnomAD v4 |
2 | g.208129459G>A | CA431116089 | CRYGC | c.234C>T (p.Ser78=) n.98-7597G>A c.105C>T (p.Ser35=) | gnomAD v4 |
2 | g.208129459G>C | CA431116088 | CRYGC | c.234C>G (p.Ser78=) n.98-7597G>C c.105C>G (p.Ser35=) | |
2 | g.208129459G>T | CA431116087 | CRYGC | c.234C>A (p.Ser78=) n.98-7597G>T c.105C>A (p.Ser35=) | |
2 | g.208129460G>A | CA64611339 | CRYGC | c.233C>T (p.Ser78Phe) n.98-7596G>A c.104C>T (p.Ser35Phe) | dbSNP |
2 | g.208129460G>C | CA350096108 | CRYGC | c.233C>G (p.Ser78Cys) n.98-7596G>C c.104C>G (p.Ser35Cys) | |
2 | g.208129460G= | CA1323931379 | CRYGC | c.233C= (p.Ser78=) n.98-7596G= c.104C= (p.Ser35=) | |
2 | g.208129460G>T | CA350096107 | CRYGC | c.233C>A (p.Ser78Tyr) n.98-7596G>T c.104C>A (p.Ser35Tyr) | |
2 | g.208129461A>C | CA350096109 | CRYGC | c.232T>G (p.Ser78Ala) n.98-7595A>C c.103T>G (p.Ser35Ala) | |
2 | g.208129461A>G | CA350096112 | CRYGC | c.232T>C (p.Ser78Pro) n.98-7595A>G c.103T>C (p.Ser35Pro) | |
2 | g.208129461A>T | CA350096110 | CRYGC | c.232T>A (p.Ser78Thr) n.98-7595A>T c.103T>A (p.Ser35Thr) | |
2 | g.208129462G>A | CA2077916 | CRYGC | c.231C>T (p.Arg77=) n.98-7594G>A c.102C>T (p.Arg34=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129462G>C | CA431116093 | CRYGC | c.231C>G (p.Arg77=) n.98-7594G>C c.102C>G (p.Arg34=) | |
2 | g.208129462G= | CA1323931380 | CRYGC | c.231C= (p.Arg77=) n.98-7594G= c.102C= (p.Arg34=) | |
2 | g.208129462G>T | CA431116094 | CRYGC | c.231C>A (p.Arg77=) n.98-7594G>T c.102C>A (p.Arg34=) | |
2 | g.208129464_208129481del | CA431116096 | CRYGC | c.214_231del (p.Leu72_Arg77del) n.98-7592_98-7575del c.85_102del (p.Leu29_Arg34del) | |
2 | g.208129463C>A | CA2077918 | CRYGC | c.230G>T (p.Arg77Leu) n.98-7593C>A c.101G>T (p.Arg34Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129463C= | CA1323931381 | CRYGC | c.230G= (p.Arg77=) n.98-7593C= c.101G= (p.Arg34=) | |
2 | g.208129463C>G | CA350096120 | CRYGC | c.230G>C (p.Arg77Pro) n.98-7593C>G c.101G>C (p.Arg34Pro) | gnomAD v4 |
2 | g.208129463C>T | CA2077917 | CRYGC | c.230G>A (p.Arg77His) n.98-7593C>T c.101G>A (p.Arg34His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208129464G>A | CA2077919 | CRYGC | c.229C>T (p.Arg77Cys) n.98-7592G>A c.100C>T (p.Arg34Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.208129464G>C | CA350096133 | CRYGC | c.229C>G (p.Arg77Gly) n.98-7592G>C c.100C>G (p.Arg34Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129464G= | CA1323931382 | CRYGC | c.229C= (p.Arg77=) n.98-7592G= c.100C= (p.Arg34=) | |
2 | g.208129464G>T | CA350096138 | CRYGC | c.229C>A (p.Arg77Ser) n.98-7592G>T c.100C>A (p.Arg34Ser) | dbSNP |
2 | g.208129465G>A | CA431116103 | CRYGC | c.228C>T (p.Ile76=) n.98-7591G>A c.99C>T (p.Ile33=) | |
2 | g.208129465G>C | CA350096146 | CRYGC | c.228C>G (p.Ile76Met) n.98-7591G>C c.99C>G (p.Ile33Met) | |
2 | g.208129465G>T | CA431116104 | CRYGC | c.228C>A (p.Ile76=) n.98-7591G>T c.99C>A (p.Ile33=) | |
2 | g.208129466A>C | CA350096149 | CRYGC | c.227T>G (p.Ile76Ser) n.98-7590A>C c.98T>G (p.Ile33Ser) | |
2 | g.208129466A>G | CA350096151 | CRYGC | c.227T>C (p.Ile76Thr) n.98-7590A>G c.98T>C (p.Ile33Thr) | COSMIC |
2 | g.208129466A>T | CA350096155 | CRYGC | c.227T>A (p.Ile76Asn) n.98-7590A>T c.98T>A (p.Ile33Asn) | |
2 | g.208129467T>A | CA350096161 | CRYGC | c.226A>T (p.Ile76Phe) n.98-7589T>A c.97A>T (p.Ile33Phe) | |
2 | g.208129467T>C | CA350096164 | CRYGC | c.226A>G (p.Ile76Val) n.98-7589T>C c.97A>G (p.Ile33Val) | |
2 | g.208129467T>G | CA350096166 | CRYGC | c.226A>C (p.Ile76Leu) n.98-7589T>G c.97A>C (p.Ile33Leu) | |
2 | g.208129468G>A | CA431116107 | CRYGC | c.225C>T (p.Ser75=) n.98-7588G>A c.96C>T (p.Ser32=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208129468G>C | CA431116109 | CRYGC | c.225C>G (p.Ser75=) n.98-7588G>C c.96C>G (p.Ser32=) | |
2 | g.208129468G= | CA1323931383 | CRYGC | c.225C= (p.Ser75=) n.98-7588G= c.96C= (p.Ser32=) | |
2 | g.208129468G>T | CA431116111 | CRYGC | c.225C>A (p.Ser75=) n.98-7588G>T c.96C>A (p.Ser32=) | gnomAD v4 |
2 | g.208129469G>A | CA350096167 | CRYGC | c.224C>T (p.Ser75Phe) n.98-7587G>A c.95C>T (p.Ser32Phe) | |
2 | g.208129469G>C | CA350096168 | CRYGC | c.224C>G (p.Ser75Cys) n.98-7587G>C c.95C>G (p.Ser32Cys) | gnomAD v4 |
2 | g.208129469G>T | CA350096169 | CRYGC | c.224C>A (p.Ser75Tyr) n.98-7587G>T c.95C>A (p.Ser32Tyr) | gnomAD v4 |
2 | g.208129470A>C | CA350096177 | CRYGC | c.223T>G (p.Ser75Ala) n.98-7586A>C c.94T>G (p.Ser32Ala) | |
2 | g.208129470A>G | CA350096175 | CRYGC | c.223T>C (p.Ser75Pro) n.98-7586A>G c.94T>C (p.Ser32Pro) | |
2 | g.208129470A>T | CA350096172 | CRYGC | c.223T>A (p.Ser75Thr) n.98-7586A>T c.94T>A (p.Ser32Thr) | |
2 | g.208129471G>A | CA431116115 | CRYGC | c.222C>T (p.Asp74=) n.98-7585G>A c.93C>T (p.Asp31=) | dbSNP |
2 | g.208129471G>C | CA350096180 | CRYGC | c.222C>G (p.Asp74Glu) n.98-7585G>C c.93C>G (p.Asp31Glu) | gnomAD v4 |
2 | g.208129471G= | CA1323931384 | CRYGC | c.222C= (p.Asp74=) n.98-7585G= c.93C= (p.Asp31=) | |
2 | g.208129471G>T | CA350096183 | CRYGC | c.222C>A (p.Asp74Glu) n.98-7585G>T c.93C>A (p.Asp31Glu) | |
2 | g.208129472T>A | CA350096186 | CRYGC | c.221A>T (p.Asp74Val) n.98-7584T>A c.92A>T (p.Asp31Val) | dbSNP |
2 | g.208129472T>C | CA350096188 | CRYGC | c.221A>G (p.Asp74Gly) n.98-7584T>C c.92A>G (p.Asp31Gly) | |
2 | g.208129472T>G | CA350096192 | CRYGC | c.221A>C (p.Asp74Ala) n.98-7584T>G c.92A>C (p.Asp31Ala) | |
2 | g.208129472T= | CA1323931385 | CRYGC | c.221A= (p.Asp74=) n.98-7584T= c.92A= (p.Asp31=) | |
2 | g.208129473C>A | CA350096195 | CRYGC | c.220G>T (p.Asp74Tyr) n.98-7583C>A c.91G>T (p.Asp31Tyr) | |
2 | g.208129473C= | CA1323931386 | CRYGC | c.220G= (p.Asp74=) n.98-7583C= c.91G= (p.Asp31=) | |
2 | g.208129473C>G | CA350096200 | CRYGC | c.220G>C (p.Asp74His) n.98-7583C>G c.91G>C (p.Asp31His) | |
2 | g.208129473C>T | CA2077920 | CRYGC | c.220G>A (p.Asp74Asn) n.98-7583C>T c.91G>A (p.Asp31Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129474G>A | CA2077921 | CRYGC | c.219C>T (p.Ser73=) n.98-7582G>A c.90C>T (p.Ser30=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129474G>C | CA350096210 | CRYGC | c.219C>G (p.Ser73Arg) n.98-7582G>C c.90C>G (p.Ser30Arg) | dbSNP |
2 | g.208129474G= | CA1323931387 | CRYGC | c.219C= (p.Ser73=) n.98-7582G= c.90C= (p.Ser30=) | |
2 | g.208129474G>T | CA350096216 | CRYGC | c.219C>A (p.Ser73Arg) n.98-7582G>T c.90C>A (p.Ser30Arg) | gnomAD v4 |
2 | g.208129475C>A | CA350096219 | CRYGC | c.218G>T (p.Ser73Ile) n.98-7581C>A c.89G>T (p.Ser30Ile) | |
2 | g.208129475C>G | CA350096223 | CRYGC | c.218G>C (p.Ser73Thr) n.98-7581C>G c.89G>C (p.Ser30Thr) | |
2 | g.208129475C>T | CA350096226 | CRYGC | c.218G>A (p.Ser73Asn) n.98-7581C>T c.89G>A (p.Ser30Asn) | gnomAD v4 |
2 | g.208129476T>A | CA350096238 | CRYGC | c.217A>T (p.Ser73Cys) n.98-7580T>A c.88A>T (p.Ser30Cys) | |
2 | g.208129476T>C | CA350096234 | CRYGC | c.217A>G (p.Ser73Gly) n.98-7580T>C c.88A>G (p.Ser30Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208129476T>G | CA64611366 | CRYGC | c.217A>C (p.Ser73Arg) n.98-7580T>G c.88A>C (p.Ser30Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208129476T= | CA1323931388 | CRYGC | c.217A= (p.Ser73=) n.98-7580T= c.88A= (p.Ser30=) | |
2 | g.208129477G>A | CA2077922 | CRYGC | c.216C>T (p.Leu72=) n.98-7579G>A c.87C>T (p.Leu29=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.208129477G>C | CA431116126 | CRYGC | c.216C>G (p.Leu72=) n.98-7579G>C c.87C>G (p.Leu29=) | |
2 | g.208129477G= | CA1323931389 | CRYGC | c.216C= (p.Leu72=) n.98-7579G= c.87C= (p.Leu29=) | |
2 | g.208129477G>T | CA431116125 | CRYGC | c.216C>A (p.Leu72=) n.98-7579G>T c.87C>A (p.Leu29=) | |
2 | g.208129478A>C | CA350096239 | CRYGC | c.215T>G (p.Leu72Arg) n.98-7578A>C c.86T>G (p.Leu29Arg) | |
2 | g.208129478A>G | CA350096243 | CRYGC | c.215T>C (p.Leu72Pro) n.98-7578A>G c.86T>C (p.Leu29Pro) | |
2 | g.208129478A>T | CA350096247 | CRYGC | c.215T>A (p.Leu72His) n.98-7578A>T c.86T>A (p.Leu29His) | |
2 | g.208129479G>A | CA350096251 | CRYGC | c.214C>T (p.Leu72Phe) n.98-7577G>A c.85C>T (p.Leu29Phe) | |
2 | g.208129479G>C | CA350096254 | CRYGC | c.214C>G (p.Leu72Val) n.98-7577G>C c.85C>G (p.Leu29Val) | dbSNP gnomAD v2 |
2 | g.208129479G= | CA1323931390 | CRYGC | c.214C= (p.Leu72=) n.98-7577G= c.85C= (p.Leu29=) | |
2 | g.208129479G>T | CA350096258 | CRYGC | c.214C>A (p.Leu72Ile) n.98-7577G>T c.85C>A (p.Leu29Ile) | |
2 | g.208129480G>A | CA431116130 | CRYGC | c.213C>T (p.Gly71=) n.98-7576G>A c.84C>T (p.Gly28=) | |
2 | g.208129480G>C | CA431116132 | CRYGC | c.213C>G (p.Gly71=) n.98-7576G>C c.84C>G (p.Gly28=) | |
2 | g.208129480G>T | CA431116133 | CRYGC | c.213C>A (p.Gly71=) n.98-7576G>T c.84C>A (p.Gly28=) | |
2 | g.208129481C>A | CA350096263 | CRYGC | c.212G>T (p.Gly71Val) n.98-7575C>A c.83G>T (p.Gly28Val) | ClinVar dbSNP COSMIC |
2 | g.208129481C= | CA1323931391 | CRYGC | c.212G= (p.Gly71=) n.98-7575C= c.83G= (p.Gly28=) | |
2 | g.208129481C>G | CA350096264 | CRYGC | c.212G>C (p.Gly71Ala) n.98-7575C>G c.83G>C (p.Gly28Ala) | |
2 | g.208129481C>T | CA350096265 | CRYGC | c.212G>A (p.Gly71Asp) n.98-7575C>T c.83G>A (p.Gly28Asp) | |
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) |