Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101753363A>GCA2620425957GNPTABc.3602+9T>C (n.3602+9T>C)
c.500+9T>C (n.500+9T>C)
c.3521+9T>C (n.3521+9T>C)
c.3386+9T>C (n.3386+9T>C)
c.2375+9T>C (n.2375+9T>C)
 gnomAD v4
12g.101753364G>ACA2581100832GNPTABc.3602+8C>T (n.3602+8C>T)
c.500+8C>T (n.500+8C>T)
c.3521+8C>T (n.3521+8C>T)
c.3386+8C>T (n.3386+8C>T)
c.2375+8C>T (n.2375+8C>T)
12g.101753364G>CCA2581100831GNPTABc.3602+8C>G (n.3602+8C>G)
c.500+8C>G (n.500+8C>G)
c.3521+8C>G (n.3521+8C>G)
c.3386+8C>G (n.3386+8C>G)
c.2375+8C>G (n.2375+8C>G)
12g.101753364G=CA2058950528GNPTABc.3602+8C= (n.3602+8C=)
c.500+8C= (n.500+8C=)
c.3521+8C= (n.3521+8C=)
c.3386+8C= (n.3386+8C=)
c.2375+8C= (n.2375+8C=)
12g.101753364G>TCA149259GNPTABc.3602+8C>A (n.3602+8C>A)
c.500+8C>A (n.500+8C>A)
c.3521+8C>A (n.3521+8C>A)
c.3386+8C>A (n.3386+8C>A)
c.2375+8C>A (n.2375+8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753365A>TCA2620425961GNPTABc.3602+7T>A (n.3602+7T>A)
c.500+7T>A (n.500+7T>A)
c.3521+7T>A (n.3521+7T>A)
c.3386+7T>A (n.3386+7T>A)
c.2375+7T>A (n.2375+7T>A)
 gnomAD v4
12g.101753367T>ACA2575264811GNPTABc.3602+5A>T (n.3602+5A>T)
c.500+5A>T (n.500+5A>T)
c.3521+5A>T (n.3521+5A>T)
c.3386+5A>T (n.3386+5A>T)
c.2375+5A>T (n.2375+5A>T)
12g.101753368T>CCA682777129GNPTABc.3602+4A>G (n.3602+4A>G)
c.500+4A>G (n.500+4A>G)
c.3521+4A>G (n.3521+4A>G)
c.3386+4A>G (n.3386+4A>G)
c.2375+4A>G (n.2375+4A>G)
 dbSNP
12g.101753368T=CA2058950529GNPTABc.3602+4A= (n.3602+4A=)
c.500+4A= (n.500+4A=)
c.3521+4A= (n.3521+4A=)
c.3386+4A= (n.3386+4A=)
c.2375+4A= (n.2375+4A=)
12g.101753370A=CA2058950530GNPTABc.3602+2T= (n.3602+2T=)
c.500+2T= (n.500+2T=)
c.3521+2T= (n.3521+2T=)
c.3386+2T= (n.3386+2T=)
c.2375+2T= (n.2375+2T=)
12g.101753370A>CCA386292101GNPTABc.3602+2T>G (n.3602+2T>G)
c.500+2T>G (n.500+2T>G)
c.3521+2T>G (n.3521+2T>G)
c.3386+2T>G (n.3386+2T>G)
c.2375+2T>G (n.2375+2T>G)
12g.101753370A>GCA386292103GNPTABc.3602+2T>C (n.3602+2T>C)
c.500+2T>C (n.500+2T>C)
c.3521+2T>C (n.3521+2T>C)
c.3386+2T>C (n.3386+2T>C)
c.2375+2T>C (n.2375+2T>C)
 gnomAD v4
12g.101753370A>TCA386292102GNPTABc.3602+2T>A (n.3602+2T>A)
c.500+2T>A (n.500+2T>A)
c.3521+2T>A (n.3521+2T>A)
c.3386+2T>A (n.3386+2T>A)
c.2375+2T>A (n.2375+2T>A)
 ClinVar dbSNP
12g.101753371C>ACA386292104GNPTABc.3602+1G>T (n.3602+1G>T)
c.500+1G>T (n.500+1G>T)
c.3521+1G>T (n.3521+1G>T)
c.3386+1G>T (n.3386+1G>T)
c.2375+1G>T (n.2375+1G>T)
12g.101753371C>GCA386292105GNPTABc.3602+1G>C (n.3602+1G>C)
c.500+1G>C (n.500+1G>C)
c.3521+1G>C (n.3521+1G>C)
c.3386+1G>C (n.3386+1G>C)
c.2375+1G>C (n.2375+1G>C)
12g.101753371C>TCA386292106GNPTABc.3602+1G>A (n.3602+1G>A)
c.500+1G>A (n.500+1G>A)
c.3521+1G>A (n.3521+1G>A)
c.3386+1G>A (n.3386+1G>A)
c.2375+1G>A (n.2375+1G>A)
12g.101753372C>ACA386292107GNPTABc.3602G>T (p.Trp1201Leu)
c.500G>T (n.500G>T)
c.3521G>T (p.Trp1174Leu)
c.3386G>T (p.Trp1129Leu)
c.2375G>T (p.Trp792Leu)
12g.101753372C=CA2058950531GNPTABc.3602G= (p.Trp1201=)
c.500G= (n.500G=)
c.3521G= (p.Trp1174=)
c.3386G= (p.Trp1129=)
c.2375G= (p.Trp792=)
12g.101753372C>GCA386292108GNPTABc.3602G>C (p.Trp1201Ser)
c.500G>C (n.500G>C)
c.3521G>C (p.Trp1174Ser)
c.3386G>C (p.Trp1129Ser)
c.2375G>C (p.Trp792Ser)
12g.101753372C>TCA386292109GNPTABc.3602G>A (p.Trp1201Ter)
c.500G>A (n.500G>A)
c.3521G>A (p.Trp1174Ter)
c.3386G>A (p.Trp1129Ter)
c.2375G>A (p.Trp792Ter)
 ClinVar dbSNP gnomAD v4
12g.101753373A>CCA386292110GNPTABc.3601T>G (p.Trp1201Gly)
c.499T>G (n.499T>G)
c.3520T>G (p.Trp1174Gly)
c.3385T>G (p.Trp1129Gly)
c.2374T>G (p.Trp792Gly)
12g.101753373A>GCA386292111GNPTABc.3601T>C (p.Trp1201Arg)
c.499T>C (n.499T>C)
c.3520T>C (p.Trp1174Arg)
c.3385T>C (p.Trp1129Arg)
c.2374T>C (p.Trp792Arg)
12g.101753373A>TCA386292112GNPTABc.3601T>A (p.Trp1201Arg)
c.499T>A (n.499T>A)
c.3520T>A (p.Trp1174Arg)
c.3385T>A (p.Trp1129Arg)
c.2374T>A (p.Trp792Arg)
12g.101753374T>ACA386292113GNPTABc.3600A>T (p.Glu1200Asp)
c.498A>T (n.498A>T)
c.3519A>T (p.Glu1173Asp)
c.3384A>T (p.Glu1128Asp)
c.2373A>T (p.Glu791Asp)
12g.101753374T>CCA481317510GNPTABc.3600A>G (p.Glu1200=)
c.498A>G (n.498A>G)
c.3519A>G (p.Glu1173=)
c.3384A>G (p.Glu1128=)
c.2373A>G (p.Glu791=)
12g.101753374T>GCA386292114GNPTABc.3600A>C (p.Glu1200Asp)
c.498A>C (n.498A>C)
c.3519A>C (p.Glu1173Asp)
c.3384A>C (p.Glu1128Asp)
c.2373A>C (p.Glu791Asp)
12g.101753375T>ACA386292117GNPTABc.3599A>T (p.Glu1200Val)
c.497A>T (n.497A>T)
c.3518A>T (p.Glu1173Val)
c.3383A>T (p.Glu1128Val)
c.2372A>T (p.Glu791Val)
12g.101753375T>CCA386292116GNPTABc.3599A>G (p.Glu1200Gly)
c.497A>G (n.497A>G)
c.3518A>G (p.Glu1173Gly)
c.3383A>G (p.Glu1128Gly)
c.2372A>G (p.Glu791Gly)
12g.101753375T>GCA386292115GNPTABc.3599A>C (p.Glu1200Ala)
c.497A>C (n.497A>C)
c.3518A>C (p.Glu1173Ala)
c.3383A>C (p.Glu1128Ala)
c.2372A>C (p.Glu791Ala)
12g.101753376C>ACA386292118GNPTABc.3598G>T (p.Glu1200Ter)
c.496G>T (n.496G>T)
c.3517G>T (p.Glu1173Ter)
c.3382G>T (p.Glu1128Ter)
c.2371G>T (p.Glu791Ter)
 ClinVar
12g.101753376C=CA2058950532GNPTABc.3598G= (p.Glu1200=)
c.496G= (n.496G=)
c.3517G= (p.Glu1173=)
c.3382G= (p.Glu1128=)
c.2371G= (p.Glu791=)
12g.101753376C>GCA386292119GNPTABc.3598G>C (p.Glu1200Gln)
c.496G>C (n.496G>C)
c.3517G>C (p.Glu1173Gln)
c.3382G>C (p.Glu1128Gln)
c.2371G>C (p.Glu791Gln)
12g.101753376C>TCA149257GNPTABc.3598G>A (p.Glu1200Lys)
c.496G>A (n.496G>A)
c.3517G>A (p.Glu1173Lys)
c.3382G>A (p.Glu1128Lys)
c.2371G>A (p.Glu791Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753377C>ACA386292120GNPTABc.3597G>T (p.Gln1199His)
c.495G>T (n.495G>T)
c.3516G>T (p.Gln1172His)
c.3381G>T (p.Gln1127His)
c.2370G>T (p.Gln790His)
12g.101753377C=CA2058950533GNPTABc.3597G= (p.Gln1199=)
c.495G= (n.495G=)
c.3516G= (p.Gln1172=)
c.3381G= (p.Gln1127=)
c.2370G= (p.Gln790=)
12g.101753377C>GCA386292121GNPTABc.3597G>C (p.Gln1199His)
c.495G>C (n.495G>C)
c.3516G>C (p.Gln1172His)
c.3381G>C (p.Gln1127His)
c.2370G>C (p.Gln790His)
 dbSNP gnomAD v3 gnomAD v4
12g.101753377C>TCA6746113GNPTABc.3597G>A (p.Gln1199=)
c.495G>A (n.495G>A)
c.3516G>A (p.Gln1172=)
c.3381G>A (p.Gln1127=)
c.2370G>A (p.Gln790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753378T>ACA386292122GNPTABc.3596A>T (p.Gln1199Leu)
c.494A>T (n.494A>T)
c.3515A>T (p.Gln1172Leu)
c.3380A>T (p.Gln1127Leu)
c.2369A>T (p.Gln790Leu)
12g.101753378T>CCA386292123GNPTABc.3596A>G (p.Gln1199Arg)
c.494A>G (n.494A>G)
c.3515A>G (p.Gln1172Arg)
c.3380A>G (p.Gln1127Arg)
c.2369A>G (p.Gln790Arg)
12g.101753378T>GCA386292124GNPTABc.3596A>C (p.Gln1199Pro)
c.494A>C (n.494A>C)
c.3515A>C (p.Gln1172Pro)
c.3380A>C (p.Gln1127Pro)
c.2369A>C (p.Gln790Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.101753378T=CA2058950534GNPTABc.3596A= (p.Gln1199=)
c.494A= (n.494A=)
c.3515A= (p.Gln1172=)
c.3380A= (p.Gln1127=)
c.2369A= (p.Gln790=)
12g.101753379G>ACA386292125GNPTABc.3595C>T (p.Gln1199Ter)
c.493C>T (n.493C>T)
c.3514C>T (p.Gln1172Ter)
c.3379C>T (p.Gln1127Ter)
c.2368C>T (p.Gln790Ter)
 ClinVar
12g.101753379G>CCA386292127GNPTABc.3595C>G (p.Gln1199Glu)
c.493C>G (n.493C>G)
c.3514C>G (p.Gln1172Glu)
c.3379C>G (p.Gln1127Glu)
c.2368C>G (p.Gln790Glu)
12g.101753379G>TCA386292128GNPTABc.3595C>A (p.Gln1199Lys)
c.493C>A (n.493C>A)
c.3514C>A (p.Gln1172Lys)
c.3379C>A (p.Gln1127Lys)
c.2368C>A (p.Gln790Lys)
12g.101753380C>ACA481317511GNPTABc.3594G>T (p.Leu1198=)
c.492G>T (n.492G>T)
c.3513G>T (p.Leu1171=)
c.3378G>T (p.Leu1126=)
c.2367G>T (p.Leu789=)
12g.101753380C=CA2058950535GNPTABc.3594G= (p.Leu1198=)
c.492G= (n.492G=)
c.3513G= (p.Leu1171=)
c.3378G= (p.Leu1126=)
c.2367G= (p.Leu789=)
12g.101753380C>GCA481317512GNPTABc.3594G>C (p.Leu1198=)
c.492G>C (n.492G>C)
c.3513G>C (p.Leu1171=)
c.3378G>C (p.Leu1126=)
c.2367G>C (p.Leu789=)
 dbSNP gnomAD v3 gnomAD v4
12g.101753380C>TCA481317513GNPTABc.3594G>A (p.Leu1198=)
c.492G>A (n.492G>A)
c.3513G>A (p.Leu1171=)
c.3378G>A (p.Leu1126=)
c.2367G>A (p.Leu789=)
12g.101753381A>CCA386292131GNPTABc.3593T>G (p.Leu1198Arg)
c.491T>G (n.491T>G)
c.3512T>G (p.Leu1171Arg)
c.3377T>G (p.Leu1126Arg)
c.2366T>G (p.Leu789Arg)
12g.101753381A>GCA386292130GNPTABc.3593T>C (p.Leu1198Pro)
c.491T>C (n.491T>C)
c.3512T>C (p.Leu1171Pro)
c.3377T>C (p.Leu1126Pro)
c.2366T>C (p.Leu789Pro)
12g.101753381A>TCA386292129GNPTABc.3593T>A (p.Leu1198Gln)
c.491T>A (n.491T>A)
c.3512T>A (p.Leu1171Gln)
c.3377T>A (p.Leu1126Gln)
c.2366T>A (p.Leu789Gln)
12g.101753382G>ACA481317514GNPTABc.3592C>T (p.Leu1198=)
c.490C>T (n.490C>T)
c.3511C>T (p.Leu1171=)
c.3376C>T (p.Leu1126=)
c.2365C>T (p.Leu789=)
12g.101753382G>CCA386292132GNPTABc.3592C>G (p.Leu1198Val)
c.490C>G (n.490C>G)
c.3511C>G (p.Leu1171Val)
c.3376C>G (p.Leu1126Val)
c.2365C>G (p.Leu789Val)
12g.101753382G>TCA386292133GNPTABc.3592C>A (p.Leu1198Met)
c.490C>A (n.490C>A)
c.3511C>A (p.Leu1171Met)
c.3376C>A (p.Leu1126Met)
c.2365C>A (p.Leu789Met)
12g.101753383C>ACA386292134GNPTABc.3591G>T (p.Glu1197Asp)
c.489G>T (n.489G>T)
c.3510G>T (p.Glu1170Asp)
c.3375G>T (p.Glu1125Asp)
c.2364G>T (p.Glu788Asp)
12g.101753383C=CA2058950536GNPTABc.3591G= (p.Glu1197=)
c.489G= (n.489G=)
c.3510G= (p.Glu1170=)
c.3375G= (p.Glu1125=)
c.2364G= (p.Glu788=)
12g.101753383C>GCA386292135GNPTABc.3591G>C (p.Glu1197Asp)
c.489G>C (n.489G>C)
c.3510G>C (p.Glu1170Asp)
c.3375G>C (p.Glu1125Asp)
c.2364G>C (p.Glu788Asp)
 gnomAD v4
12g.101753383C>TCA6746114GNPTABc.3591G>A (p.Glu1197=)
c.489G>A (n.489G>A)
c.3510G>A (p.Glu1170=)
c.3375G>A (p.Glu1125=)
c.2364G>A (p.Glu788=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753384T>ACA386292136GNPTABc.3590A>T (p.Glu1197Val)
c.488A>T (n.488A>T)
c.3509A>T (p.Glu1170Val)
c.3374A>T (p.Glu1125Val)
c.2363A>T (p.Glu788Val)
12g.101753384T>CCA386292137GNPTABc.3590A>G (p.Glu1197Gly)
c.488A>G (n.488A>G)
c.3509A>G (p.Glu1170Gly)
c.3374A>G (p.Glu1125Gly)
c.2363A>G (p.Glu788Gly)
 COSMIC
12g.101753384T>GCA386292138GNPTABc.3590A>C (p.Glu1197Ala)
c.488A>C (n.488A>C)
c.3509A>C (p.Glu1170Ala)
c.3374A>C (p.Glu1125Ala)
c.2363A>C (p.Glu788Ala)
 dbSNP
12g.101753384T=CA2058950537GNPTABc.3590A= (p.Glu1197=)
c.488A= (n.488A=)
c.3509A= (p.Glu1170=)
c.3374A= (p.Glu1125=)
c.2363A= (p.Glu788=)
12g.101753385C>ACA386292139GNPTABc.3589G>T (p.Glu1197Ter)
c.487G>T (n.487G>T)
c.3508G>T (p.Glu1170Ter)
c.3373G>T (p.Glu1125Ter)
c.2362G>T (p.Glu788Ter)
 gnomAD v4
12g.101753385C>GCA386292140GNPTABc.3589G>C (p.Glu1197Gln)
c.487G>C (n.487G>C)
c.3508G>C (p.Glu1170Gln)
c.3373G>C (p.Glu1125Gln)
c.2362G>C (p.Glu788Gln)
12g.101753385C>TCA386292141GNPTABc.3589G>A (p.Glu1197Lys)
c.487G>A (n.487G>A)
c.3508G>A (p.Glu1170Lys)
c.3373G>A (p.Glu1125Lys)
c.2362G>A (p.Glu788Lys)
 COSMIC
12g.101753386A>CCA386292142GNPTABc.3588T>G (p.His1196Gln)
c.486T>G (n.486T>G)
c.3507T>G (p.His1169Gln)
c.3372T>G (p.His1124Gln)
c.2361T>G (p.His787Gln)
12g.101753386A>GCA481317520GNPTABc.3588T>C (p.His1196=)
c.486T>C (n.486T>C)
c.3507T>C (p.His1169=)
c.3372T>C (p.His1124=)
c.2361T>C (p.His787=)
 ClinVar dbSNP
12g.101753386A>TCA386292143GNPTABc.3588T>A (p.His1196Gln)
c.486T>A (n.486T>A)
c.3507T>A (p.His1169Gln)
c.3372T>A (p.His1124Gln)
c.2361T>A (p.His787Gln)
12g.101753387T>ACA386292146GNPTABc.3587A>T (p.His1196Leu)
c.485A>T (n.485A>T)
c.3506A>T (p.His1169Leu)
c.3371A>T (p.His1124Leu)
c.2360A>T (p.His787Leu)
12g.101753387T>CCA386292144GNPTABc.3587A>G (p.His1196Arg)
c.485A>G (n.485A>G)
c.3506A>G (p.His1169Arg)
c.3371A>G (p.His1124Arg)
c.2360A>G (p.His787Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753387T>GCA386292145GNPTABc.3587A>C (p.His1196Pro)
c.485A>C (n.485A>C)
c.3506A>C (p.His1169Pro)
c.3371A>C (p.His1124Pro)
c.2360A>C (p.His787Pro)
12g.101753388delCA2620426001GNPTABc.3586del (p.His1196MetfsTer13)
c.484del (n.484del)
c.3505del (p.His1169MetfsTer13)
c.3370del (p.His1124MetfsTer13)
c.2359del (p.His787MetfsTer13)
 gnomAD v4
12g.101753388G>ACA242447578GNPTABc.3586C>T (p.His1196Tyr)
c.484C>T (n.484C>T)
c.3505C>T (p.His1169Tyr)
c.3370C>T (p.His1124Tyr)
c.2359C>T (p.His787Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753388G>CCA386292147GNPTABc.3586C>G (p.His1196Asp)
c.484C>G (n.484C>G)
c.3505C>G (p.His1169Asp)
c.3370C>G (p.His1124Asp)
c.2359C>G (p.His787Asp)
12g.101753388G=CA2058950538GNPTABc.3586C= (p.His1196=)
c.484C= (n.484C=)
c.3505C= (p.His1169=)
c.3370C= (p.His1124=)
c.2359C= (p.His787=)
12g.101753388G>TCA386292148GNPTABc.3586C>A (p.His1196Asn)
c.484C>A (n.484C>A)
c.3505C>A (p.His1169Asn)
c.3370C>A (p.His1124Asn)
c.2359C>A (p.His787Asn)
12g.101753389C>ACA386292149GNPTABc.3585G>T (p.Met1195Ile)
c.483G>T (n.483G>T)
c.3504G>T (p.Met1168Ile)
c.3369G>T (p.Met1123Ile)
c.2358G>T (p.Met786Ile)
 gnomAD v4
12g.101753389C=CA2058950539GNPTABc.3585G= (p.Met1195=)
c.483G= (n.483G=)
c.3504G= (p.Met1168=)
c.3369G= (p.Met1123=)
c.2358G= (p.Met786=)
12g.101753389C>GCA386292150GNPTABc.3585G>C (p.Met1195Ile)
c.483G>C (n.483G>C)
c.3504G>C (p.Met1168Ile)
c.3369G>C (p.Met1123Ile)
c.2358G>C (p.Met786Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753389C>TCA6746115GNPTABc.3585G>A (p.Met1195Ile)
c.483G>A (n.483G>A)
c.3504G>A (p.Met1168Ile)
c.3369G>A (p.Met1123Ile)
c.2358G>A (p.Met786Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753390A>CCA386292153GNPTABc.3584T>G (p.Met1195Arg)
c.482T>G (n.482T>G)
c.3503T>G (p.Met1168Arg)
c.3368T>G (p.Met1123Arg)
c.2357T>G (p.Met786Arg)
12g.101753390A>GCA386292155GNPTABc.3584T>C (p.Met1195Thr)
c.482T>C (n.482T>C)
c.3503T>C (p.Met1168Thr)
c.3368T>C (p.Met1123Thr)
c.2357T>C (p.Met786Thr)
12g.101753390A>TCA386292156GNPTABc.3584T>A (p.Met1195Lys)
c.482T>A (n.482T>A)
c.3503T>A (p.Met1168Lys)
c.3368T>A (p.Met1123Lys)
c.2357T>A (p.Met786Lys)
12g.101753391T>ACA386292160GNPTABc.3583A>T (p.Met1195Leu)
c.481A>T (n.481A>T)
c.3502A>T (p.Met1168Leu)
c.3367A>T (p.Met1123Leu)
c.2356A>T (p.Met786Leu)
12g.101753391T>CCA386292161GNPTABc.3583A>G (p.Met1195Val)
c.481A>G (n.481A>G)
c.3502A>G (p.Met1168Val)
c.3367A>G (p.Met1123Val)
c.2356A>G (p.Met786Val)
12g.101753391T>GCA386292163GNPTABc.3583A>C (p.Met1195Leu)
c.481A>C (n.481A>C)
c.3502A>C (p.Met1168Leu)
c.3367A>C (p.Met1123Leu)
c.2356A>C (p.Met786Leu)
12g.101753392A>CCA386292167GNPTABc.3582T>G (p.His1194Gln)
c.480T>G (n.480T>G)
c.3501T>G (p.His1167Gln)
c.3366T>G (p.His1122Gln)
c.2355T>G (p.His785Gln)
12g.101753392A>GCA481317526GNPTABc.3582T>C (p.His1194=)
c.480T>C (n.480T>C)
c.3501T>C (p.His1167=)
c.3366T>C (p.His1122=)
c.2355T>C (p.His785=)
12g.101753392A>TCA386292165GNPTABc.3582T>A (p.His1194Gln)
c.480T>A (n.480T>A)
c.3501T>A (p.His1167Gln)
c.3366T>A (p.His1122Gln)
c.2355T>A (p.His785Gln)
12g.101753393T>ACA386292169GNPTABc.3581A>T (p.His1194Leu)
c.479A>T (n.479A>T)
c.3500A>T (p.His1167Leu)
c.3365A>T (p.His1122Leu)
c.2354A>T (p.His785Leu)
12g.101753393T>CCA386292173GNPTABc.3581A>G (p.His1194Arg)
c.479A>G (n.479A>G)
c.3500A>G (p.His1167Arg)
c.3365A>G (p.His1122Arg)
c.2354A>G (p.His785Arg)
 gnomAD v4
12g.101753393T>GCA386292171GNPTABc.3581A>C (p.His1194Pro)
c.479A>C (n.479A>C)
c.3500A>C (p.His1167Pro)
c.3365A>C (p.His1122Pro)
c.2354A>C (p.His785Pro)
12g.101753394G>ACA386292174GNPTABc.3580C>T (p.His1194Tyr)
c.478C>T (n.478C>T)
c.3499C>T (p.His1167Tyr)
c.3364C>T (p.His1122Tyr)
c.2353C>T (p.His785Tyr)
 COSMIC
12g.101753394G>CCA386292176GNPTABc.3580C>G (p.His1194Asp)
c.478C>G (n.478C>G)
c.3499C>G (p.His1167Asp)
c.3364C>G (p.His1122Asp)
c.2353C>G (p.His785Asp)
12g.101753394G>TCA386292178GNPTABc.3580C>A (p.His1194Asn)
c.478C>A (n.478C>A)
c.3499C>A (p.His1167Asn)
c.3364C>A (p.His1122Asn)
c.2353C>A (p.His785Asn)
12g.101753395A>CCA481317528GNPTABc.3579T>G (p.Leu1193=)
c.477T>G (n.477T>G)
c.3498T>G (p.Leu1166=)
c.3363T>G (p.Leu1121=)
c.2352T>G (p.Leu784=)
12g.101753395A>GCA481317529GNPTABc.3579T>C (p.Leu1193=)
c.477T>C (n.477T>C)
c.3498T>C (p.Leu1166=)
c.3363T>C (p.Leu1121=)
c.2352T>C (p.Leu784=)
12g.101753395A>TCA481317530GNPTABc.3579T>A (p.Leu1193=)
c.477T>A (n.477T>A)
c.3498T>A (p.Leu1166=)
c.3363T>A (p.Leu1121=)
c.2352T>A (p.Leu784=)
12g.101753396A>CCA386292180GNPTABc.3578T>G (p.Leu1193Arg)
c.476T>G (n.476T>G)
c.3497T>G (p.Leu1166Arg)
c.3362T>G (p.Leu1121Arg)
c.2351T>G (p.Leu784Arg)
12g.101753396A>GCA386292182GNPTABc.3578T>C (p.Leu1193Pro)
c.476T>C (n.476T>C)
c.3497T>C (p.Leu1166Pro)
c.3362T>C (p.Leu1121Pro)
c.2351T>C (p.Leu784Pro)
12g.101753396A>TCA386292184GNPTABc.3578T>A (p.Leu1193His)
c.476T>A (n.476T>A)
c.3497T>A (p.Leu1166His)
c.3362T>A (p.Leu1121His)
c.2351T>A (p.Leu784His)
12g.101753397G>ACA386292188GNPTABc.3577C>T (p.Leu1193Phe)
c.475C>T (n.475C>T)
c.3496C>T (p.Leu1166Phe)
c.3361C>T (p.Leu1121Phe)
c.2350C>T (p.Leu784Phe)
 gnomAD v4
12g.101753397G>CCA386292186GNPTABc.3577C>G (p.Leu1193Val)
c.475C>G (n.475C>G)
c.3496C>G (p.Leu1166Val)
c.3361C>G (p.Leu1121Val)
c.2350C>G (p.Leu784Val)
12g.101753397G>TCA386292187GNPTABc.3577C>A (p.Leu1193Ile)
c.475C>A (n.475C>A)
c.3496C>A (p.Leu1166Ile)
c.3361C>A (p.Leu1121Ile)
c.2350C>A (p.Leu784Ile)
12g.101753398G>ACA481317531GNPTABc.3576C>T (p.Phe1192=)
c.474C>T (n.474C>T)
c.3495C>T (p.Phe1165=)
c.3360C>T (p.Phe1120=)
c.2349C>T (p.Phe783=)
 gnomAD v4
12g.101753398G>CCA386292190GNPTABc.3576C>G (p.Phe1192Leu)
c.474C>G (n.474C>G)
c.3495C>G (p.Phe1165Leu)
c.3360C>G (p.Phe1120Leu)
c.2349C>G (p.Phe783Leu)
12g.101753398G>TCA386292191GNPTABc.3576C>A (p.Phe1192Leu)
c.474C>A (n.474C>A)
c.3495C>A (p.Phe1165Leu)
c.3360C>A (p.Phe1120Leu)
c.2349C>A (p.Phe783Leu)
 COSMIC
12g.101753399A=CA2058950540GNPTABc.3575T= (p.Phe1192=)
c.473T= (n.473T=)
c.3494T= (p.Phe1165=)
c.3359T= (p.Phe1120=)
c.2348T= (p.Phe783=)
12g.101753399A>CCA386292193GNPTABc.3575T>G (p.Phe1192Cys)
c.473T>G (n.473T>G)
c.3494T>G (p.Phe1165Cys)
c.3359T>G (p.Phe1120Cys)
c.2348T>G (p.Phe783Cys)
12g.101753399A>GCA16609422GNPTABc.3575T>C (p.Phe1192Ser)
c.473T>C (n.473T>C)
c.3494T>C (p.Phe1165Ser)
c.3359T>C (p.Phe1120Ser)
c.2348T>C (p.Phe783Ser)
 ClinVar dbSNP
12g.101753399A>TCA386292195GNPTABc.3575T>A (p.Phe1192Tyr)
c.473T>A (n.473T>A)
c.3494T>A (p.Phe1165Tyr)
c.3359T>A (p.Phe1120Tyr)
c.2348T>A (p.Phe783Tyr)
 gnomAD v4
12g.101753400A>CCA386292200GNPTABc.3574T>G (p.Phe1192Val)
c.472T>G (n.472T>G)
c.3493T>G (p.Phe1165Val)
c.3358T>G (p.Phe1120Val)
c.2347T>G (p.Phe783Val)
12g.101753400A>GCA386292196GNPTABc.3574T>C (p.Phe1192Leu)
c.472T>C (n.472T>C)
c.3493T>C (p.Phe1165Leu)
c.3358T>C (p.Phe1120Leu)
c.2347T>C (p.Phe783Leu)
 gnomAD v4
12g.101753400A>TCA386292198GNPTABc.3574T>A (p.Phe1192Ile)
c.472T>A (n.472T>A)
c.3493T>A (p.Phe1165Ile)
c.3358T>A (p.Phe1120Ile)
c.2347T>A (p.Phe783Ile)
12g.101753401A=CA2058950541GNPTABc.3573T= (p.Arg1191=)
c.471T= (n.471T=)
c.3492T= (p.Arg1164=)
c.3357T= (p.Arg1119=)
c.2346T= (p.Arg782=)
12g.101753401A>CCA481317535GNPTABc.3573T>G (p.Arg1191=)
c.471T>G (n.471T>G)
c.3492T>G (p.Arg1164=)
c.3357T>G (p.Arg1119=)
c.2346T>G (p.Arg782=)
12g.101753401A>GCA481317536GNPTABc.3573T>C (p.Arg1191=)
c.471T>C (n.471T>C)
c.3492T>C (p.Arg1164=)
c.3357T>C (p.Arg1119=)
c.2346T>C (p.Arg782=)
12g.101753401A>TCA6746116GNPTABc.3573T>A (p.Arg1191=)
c.471T>A (n.471T>A)
c.3492T>A (p.Arg1164=)
c.3357T>A (p.Arg1119=)
c.2346T>A (p.Arg782=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753402C>ACA386292204GNPTABc.3572G>T (p.Arg1191Leu)
c.470G>T (n.470G>T)
c.3491G>T (p.Arg1164Leu)
c.3356G>T (p.Arg1119Leu)
c.2345G>T (p.Arg782Leu)
12g.101753402C=CA2058950542GNPTABc.3572G= (p.Arg1191=)
c.470G= (n.470G=)
c.3491G= (p.Arg1164=)
c.3356G= (p.Arg1119=)
c.2345G= (p.Arg782=)
12g.101753402C>GCA386292206GNPTABc.3572G>C (p.Arg1191Pro)
c.470G>C (n.470G>C)
c.3491G>C (p.Arg1164Pro)
c.3356G>C (p.Arg1119Pro)
c.2345G>C (p.Arg782Pro)
12g.101753402C>TCA6746117GNPTABc.3572G>A (p.Arg1191His)
c.470G>A (n.470G>A)
c.3491G>A (p.Arg1164His)
c.3356G>A (p.Arg1119His)
c.2345G>A (p.Arg782His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753403G>ACA386292209GNPTABc.3571C>T (p.Arg1191Cys)
c.469C>T (n.469C>T)
c.3490C>T (p.Arg1164Cys)
c.3355C>T (p.Arg1119Cys)
c.2344C>T (p.Arg782Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753403G>CCA386292211GNPTABc.3571C>G (p.Arg1191Gly)
c.469C>G (n.469C>G)
c.3490C>G (p.Arg1164Gly)
c.3355C>G (p.Arg1119Gly)
c.2344C>G (p.Arg782Gly)
12g.101753403G=CA2058950543GNPTABc.3571C= (p.Arg1191=)
c.469C= (n.469C=)
c.3490C= (p.Arg1164=)
c.3355C= (p.Arg1119=)
c.2344C= (p.Arg782=)
12g.101753403G>TCA386292212GNPTABc.3571C>A (p.Arg1191Ser)
c.469C>A (n.469C>A)
c.3490C>A (p.Arg1164Ser)
c.3355C>A (p.Arg1119Ser)
c.2344C>A (p.Arg782Ser)
12g.101753404G>ACA481317541GNPTABc.3570C>T (p.Asn1190=)
c.468C>T (n.468C>T)
c.3489C>T (p.Asn1163=)
c.3354C>T (p.Asn1118=)
c.2343C>T (p.Asn781=)
12g.101753404G>CCA386292215GNPTABc.3570C>G (p.Asn1190Lys)
c.468C>G (n.468C>G)
c.3489C>G (p.Asn1163Lys)
c.3354C>G (p.Asn1118Lys)
c.2343C>G (p.Asn781Lys)
12g.101753404G=CA2058950544GNPTABc.3570C= (p.Asn1190=)
c.468C= (n.468C=)
c.3489C= (p.Asn1163=)
c.3354C= (p.Asn1118=)
c.2343C= (p.Asn781=)
12g.101753404G>TCA386292217GNPTABc.3570C>A (p.Asn1190Lys)
c.468C>A (n.468C>A)
c.3489C>A (p.Asn1163Lys)
c.3354C>A (p.Asn1118Lys)
c.2343C>A (p.Asn781Lys)
 ClinVar gnomAD v4
12g.101753405T>ACA386292219GNPTABc.3569A>T (p.Asn1190Ile)
c.467A>T (n.467A>T)
c.3488A>T (p.Asn1163Ile)
c.3353A>T (p.Asn1118Ile)
c.2342A>T (p.Asn781Ile)
12g.101753405T>CCA386292221GNPTABc.3569A>G (p.Asn1190Ser)
c.467A>G (n.467A>G)
c.3488A>G (p.Asn1163Ser)
c.3353A>G (p.Asn1118Ser)
c.2342A>G (p.Asn781Ser)
12g.101753405T>GCA386292223GNPTABc.3569A>C (p.Asn1190Thr)
c.467A>C (n.467A>C)
c.3488A>C (p.Asn1163Thr)
c.3353A>C (p.Asn1118Thr)
c.2342A>C (p.Asn781Thr)
12g.101753407dupCA343080GNPTABc.3569dup (p.Asn1190LysfsTer8)
c.467dup (n.467dup)
c.3488dup (p.Asn1163LysfsTer8)
c.3353dup (p.Asn1118LysfsTer8)
c.2342dup (p.Asn781LysfsTer8)
 ClinVar dbSNP
12g.101753407delCA2740092543GNPTABc.3569del (p.Asn1190ThrfsTer19)
c.467del (n.467del)
c.3488del (p.Asn1163ThrfsTer19)
c.3353del (p.Asn1118ThrfsTer19)
c.2342del (p.Asn781ThrfsTer19)
 ClinVar
12g.101753406T>ACA386292225GNPTABc.3568A>T (p.Asn1190Tyr)
c.466A>T (n.466A>T)
c.3487A>T (p.Asn1163Tyr)
c.3352A>T (p.Asn1118Tyr)
c.2341A>T (p.Asn781Tyr)
12g.101753406T>CCA386292229GNPTABc.3568A>G (p.Asn1190Asp)
c.466A>G (n.466A>G)
c.3487A>G (p.Asn1163Asp)
c.3352A>G (p.Asn1118Asp)
c.2341A>G (p.Asn781Asp)
 dbSNP
12g.101753406T>GCA386292227GNPTABc.3568A>C (p.Asn1190His)
c.466A>C (n.466A>C)
c.3487A>C (p.Asn1163His)
c.3352A>C (p.Asn1118His)
c.2341A>C (p.Asn781His)
12g.101753406T=CA2058950545GNPTABc.3568A= (p.Asn1190=)
c.466A= (n.466A=)
c.3487A= (p.Asn1163=)
c.3352A= (p.Asn1118=)
c.2341A= (p.Asn781=)
12g.101753407T>ACA481317545GNPTABc.3567A>T (p.Arg1189=)
c.465A>T (n.465A>T)
c.3486A>T (p.Arg1162=)
c.3351A>T (p.Arg1117=)
c.2340A>T (p.Arg780=)
12g.101753407T>CCA481317546GNPTABc.3567A>G (p.Arg1189=)
c.465A>G (n.465A>G)
c.3486A>G (p.Arg1162=)
c.3351A>G (p.Arg1117=)
c.2340A>G (p.Arg780=)
12g.101753407T>GCA481317547GNPTABc.3567A>C (p.Arg1189=)
c.465A>C (n.465A>C)
c.3486A>C (p.Arg1162=)
c.3351A>C (p.Arg1117=)
c.2340A>C (p.Arg780=)
12g.101753408C>ACA386292231GNPTABc.3566G>T (p.Arg1189Leu)
c.464G>T (n.464G>T)
c.3485G>T (p.Arg1162Leu)
c.3350G>T (p.Arg1117Leu)
c.2339G>T (p.Arg780Leu)
12g.101753408C=CA2058950546GNPTABc.3566G= (p.Arg1189=)
c.464G= (n.464G=)
c.3485G= (p.Arg1162=)
c.3350G= (p.Arg1117=)
c.2339G= (p.Arg780=)
12g.101753408C>GCA386292233GNPTABc.3566G>C (p.Arg1189Pro)
c.464G>C (n.464G>C)
c.3485G>C (p.Arg1162Pro)
c.3350G>C (p.Arg1117Pro)
c.2339G>C (p.Arg780Pro)
12g.101753408C>TCA6746118GNPTABc.3566G>A (p.Arg1189Gln)
c.464G>A (n.464G>A)
c.3485G>A (p.Arg1162Gln)
c.3350G>A (p.Arg1117Gln)
c.2339G>A (p.Arg780Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.101753408_101753409insTCA2695217189GNPTABc.3565_3566insA (p.Arg1189GlnfsTer9)
c.463_464insA (n.463_464insA)
c.3484_3485insA (p.Arg1162GlnfsTer9)
c.3349_3350insA (p.Arg1117GlnfsTer9)
c.2338_2339insA (p.Arg780GlnfsTer9)
12g.101753409G>ACA340009GNPTABc.3565C>T (p.Arg1189Ter)
c.463C>T (n.463C>T)
c.3484C>T (p.Arg1162Ter)
c.3349C>T (p.Arg1117Ter)
c.2338C>T (p.Arg780Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753409G>CCA386292237GNPTABc.3565C>G (p.Arg1189Gly)
c.463C>G (n.463C>G)
c.3484C>G (p.Arg1162Gly)
c.3349C>G (p.Arg1117Gly)
c.2338C>G (p.Arg780Gly)
 dbSNP gnomAD v4
12g.101753409G=CA2058950547GNPTABc.3565C= (p.Arg1189=)
c.463C= (n.463C=)
c.3484C= (p.Arg1162=)
c.3349C= (p.Arg1117=)
c.2338C= (p.Arg780=)
12g.101753409G>TCA481317550GNPTABc.3565C>A (p.Arg1189=)
c.463C>A (n.463C>A)
c.3484C>A (p.Arg1162=)
c.3349C>A (p.Arg1117=)
c.2338C>A (p.Arg780=)
12g.101753410A>CCA386292240GNPTABc.3564T>G (p.Tyr1188Ter)
c.462T>G (n.462T>G)
c.3483T>G (p.Tyr1161Ter)
c.3348T>G (p.Tyr1116Ter)
c.2337T>G (p.Tyr779Ter)
12g.101753410A>GCA481317552GNPTABc.3564T>C (p.Tyr1188=)
c.462T>C (n.462T>C)
c.3483T>C (p.Tyr1161=)
c.3348T>C (p.Tyr1116=)
c.2337T>C (p.Tyr779=)
12g.101753410A>TCA386292241GNPTABc.3564T>A (p.Tyr1188Ter)
c.462T>A (n.462T>A)
c.3483T>A (p.Tyr1161Ter)
c.3348T>A (p.Tyr1116Ter)
c.2337T>A (p.Tyr779Ter)
12g.101753411T>ACA386292244GNPTABc.3563A>T (p.Tyr1188Phe)
c.461A>T (n.461A>T)
c.3482A>T (p.Tyr1161Phe)
c.3347A>T (p.Tyr1116Phe)
c.2336A>T (p.Tyr779Phe)
12g.101753411T>CCA386292245GNPTABc.3563A>G (p.Tyr1188Cys)
c.461A>G (n.461A>G)
c.3482A>G (p.Tyr1161Cys)
c.3347A>G (p.Tyr1116Cys)
c.2336A>G (p.Tyr779Cys)
12g.101753411T>GCA386292247GNPTABc.3563A>C (p.Tyr1188Ser)
c.461A>C (n.461A>C)
c.3482A>C (p.Tyr1161Ser)
c.3347A>C (p.Tyr1116Ser)
c.2336A>C (p.Tyr779Ser)
12g.101753412A=CA2058950549GNPTABc.3562T= (p.Tyr1188=)
c.460T= (n.460T=)
c.3481T= (p.Tyr1161=)
c.3346T= (p.Tyr1116=)
c.2335T= (p.Tyr779=)
12g.101753412A>CCA242447649GNPTABc.3562T>G (p.Tyr1188Asp)
c.460T>G (n.460T>G)
c.3481T>G (p.Tyr1161Asp)
c.3346T>G (p.Tyr1116Asp)
c.2335T>G (p.Tyr779Asp)
 dbSNP
12g.101753412A>GCA386292250GNPTABc.3562T>C (p.Tyr1188His)
c.460T>C (n.460T>C)
c.3481T>C (p.Tyr1161His)
c.3346T>C (p.Tyr1116His)
c.2335T>C (p.Tyr779His)
12g.101753412A>TCA386292252GNPTABc.3562T>A (p.Tyr1188Asn)
c.460T>A (n.460T>A)
c.3481T>A (p.Tyr1161Asn)
c.3346T>A (p.Tyr1116Asn)
c.2335T>A (p.Tyr779Asn)
12g.101753412_101753414delinsACTCA2058950548GNPTABc.3560_3562delinsAGT (p.Glu1187=)
c.458_460delinsAGT (n.458_460delinsAGT)
c.3479_3481delinsAGT (p.Glu1160=)
c.3344_3346delinsAGT (p.Glu1115=)
c.2333_2335delinsAGT (p.Glu778=)
12g.101753413C>ACA386292254GNPTABc.3561G>T (p.Glu1187Asp)
c.459G>T (n.459G>T)
c.3480G>T (p.Glu1160Asp)
c.3345G>T (p.Glu1115Asp)
c.2334G>T (p.Glu778Asp)
12g.101753413C>GCA386292257GNPTABc.3561G>C (p.Glu1187Asp)
c.459G>C (n.459G>C)
c.3480G>C (p.Glu1160Asp)
c.3345G>C (p.Glu1115Asp)
c.2334G>C (p.Glu778Asp)
12g.101753413C>TCA481317554GNPTABc.3561G>A (p.Glu1187=)
c.459G>A (n.459G>A)
c.3480G>A (p.Glu1160=)
c.3345G>A (p.Glu1115=)
c.2334G>A (p.Glu778=)
12g.101753417_101753418delCA275054GNPTABc.3560_3561del (p.Glu1187ValfsTer10)
c.458_459del (n.458_459del)
c.3479_3480del (p.Glu1160ValfsTer10)
c.3344_3345del (p.Glu1115ValfsTer10)
c.2333_2334del (p.Glu778ValfsTer10)
 ClinVar dbSNP ExAC gnomAD v4
12g.101753414T>ACA386292260GNPTABc.3560A>T (p.Glu1187Val)
c.458A>T (n.458A>T)
c.3479A>T (p.Glu1160Val)
c.3344A>T (p.Glu1115Val)
c.2333A>T (p.Glu778Val)
 dbSNP
12g.101753414T>CCA386292262GNPTABc.3560A>G (p.Glu1187Gly)
c.458A>G (n.458A>G)
c.3479A>G (p.Glu1160Gly)
c.3344A>G (p.Glu1115Gly)
c.2333A>G (p.Glu778Gly)
 gnomAD v4
12g.101753414T>GCA386292264GNPTABc.3560A>C (p.Glu1187Ala)
c.458A>C (n.458A>C)
c.3479A>C (p.Glu1160Ala)
c.3344A>C (p.Glu1115Ala)
c.2333A>C (p.Glu778Ala)
12g.101753414T=CA2058950550GNPTABc.3560A= (p.Glu1187=)
c.458A= (n.458A=)
c.3479A= (p.Glu1160=)
c.3344A= (p.Glu1115=)
c.2333A= (p.Glu778=)
12g.101753415C>ACA386292266GNPTABc.3559G>T (p.Glu1187Ter)
c.457G>T (n.457G>T)
c.3478G>T (p.Glu1160Ter)
c.3343G>T (p.Glu1115Ter)
c.2332G>T (p.Glu778Ter)
12g.101753415C>GCA386292267GNPTABc.3559G>C (p.Glu1187Gln)
c.457G>C (n.457G>C)
c.3478G>C (p.Glu1160Gln)
c.3343G>C (p.Glu1115Gln)
c.2332G>C (p.Glu778Gln)
12g.101753415C>TCA386292269GNPTABc.3559G>A (p.Glu1187Lys)
c.457G>A (n.457G>A)
c.3478G>A (p.Glu1160Lys)
c.3343G>A (p.Glu1115Lys)
c.2332G>A (p.Glu778Lys)
12g.101753416T>ACA386292271GNPTABc.3558A>T (p.Arg1186Ser)
c.456A>T (n.456A>T)
c.3477A>T (p.Arg1159Ser)
c.3342A>T (p.Arg1114Ser)
c.2331A>T (p.Arg777Ser)
12g.101753416T>CCA481317562GNPTABc.3558A>G (p.Arg1186=)
c.456A>G (n.456A>G)
c.3477A>G (p.Arg1159=)
c.3342A>G (p.Arg1114=)
c.2331A>G (p.Arg777=)
 ClinVar dbSNP
12g.101753416T>GCA386292273GNPTABc.3558A>C (p.Arg1186Ser)
c.456A>C (n.456A>C)
c.3477A>C (p.Arg1159Ser)
c.3342A>C (p.Arg1114Ser)
c.2331A>C (p.Arg777Ser)
12g.101753417C>ACA386292276GNPTABc.3557G>T (p.Arg1186Ile)
c.455G>T (n.455G>T)
c.3476G>T (p.Arg1159Ile)
c.3341G>T (p.Arg1114Ile)
c.2330G>T (p.Arg777Ile)
12g.101753417C>GCA386292278GNPTABc.3557G>C (p.Arg1186Thr)
c.455G>C (n.455G>C)
c.3476G>C (p.Arg1159Thr)
c.3341G>C (p.Arg1114Thr)
c.2330G>C (p.Arg777Thr)
12g.101753417C>TCA386292279GNPTABc.3557G>A (p.Arg1186Lys)
c.455G>A (n.455G>A)
c.3476G>A (p.Arg1159Lys)
c.3341G>A (p.Arg1114Lys)
c.2330G>A (p.Arg777Lys)
12g.101753418T>ACA386292280GNPTABc.3556A>T (p.Arg1186Ter)
c.454A>T (n.454A>T)
c.3475A>T (p.Arg1159Ter)
c.3340A>T (p.Arg1114Ter)
c.2329A>T (p.Arg777Ter)
12g.101753418T>CCA386292281GNPTABc.3556A>G (p.Arg1186Gly)
c.454A>G (n.454A>G)
c.3475A>G (p.Arg1159Gly)
c.3340A>G (p.Arg1114Gly)
c.2329A>G (p.Arg777Gly)
12g.101753418T>GCA481317566GNPTABc.3556A>C (p.Arg1186=)
c.454A>C (n.454A>C)
c.3475A>C (p.Arg1159=)
c.3340A>C (p.Arg1114=)
c.2329A>C (p.Arg777=)
12g.101753419T>ACA481317567GNPTABc.3555A>T (p.Pro1185=)
c.453A>T (n.453A>T)
c.3474A>T (p.Pro1158=)
c.3339A>T (p.Pro1113=)
c.2328A>T (p.Pro776=)
12g.101753419T>CCA6746119GNPTABc.3555A>G (p.Pro1185=)
c.453A>G (n.453A>G)
c.3474A>G (p.Pro1158=)
c.3339A>G (p.Pro1113=)
c.2328A>G (p.Pro776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753419T>GCA481317569GNPTABc.3555A>C (p.Pro1185=)
c.453A>C (n.453A>C)
c.3474A>C (p.Pro1158=)
c.3339A>C (p.Pro1113=)
c.2328A>C (p.Pro776=)
12g.101753419T=CA2058950551GNPTABc.3555A= (p.Pro1185=)
c.453A= (n.453A=)
c.3474A= (p.Pro1158=)
c.3339A= (p.Pro1113=)
c.2328A= (p.Pro776=)
12g.101753420G>ACA386292291GNPTABc.3554C>T (p.Pro1185Leu)
c.452C>T (n.452C>T)
c.3473C>T (p.Pro1158Leu)
c.3338C>T (p.Pro1113Leu)
c.2327C>T (p.Pro776Leu)
 dbSNP gnomAD v4
12g.101753420G>CCA386292284GNPTABc.3554C>G (p.Pro1185Arg)
c.452C>G (n.452C>G)
c.3473C>G (p.Pro1158Arg)
c.3338C>G (p.Pro1113Arg)
c.2327C>G (p.Pro776Arg)
12g.101753420G=CA2058950552GNPTABc.3554C= (p.Pro1185=)
c.452C= (n.452C=)
c.3473C= (p.Pro1158=)
c.3338C= (p.Pro1113=)
c.2327C= (p.Pro776=)
12g.101753420G>TCA386292286GNPTABc.3554C>A (p.Pro1185Gln)
c.452C>A (n.452C>A)
c.3473C>A (p.Pro1158Gln)
c.3338C>A (p.Pro1113Gln)
c.2327C>A (p.Pro776Gln)
12g.101753421G>ACA386292294GNPTABc.3553C>T (p.Pro1185Ser)
c.451C>T (n.451C>T)
c.3472C>T (p.Pro1158Ser)
c.3337C>T (p.Pro1113Ser)
c.2326C>T (p.Pro776Ser)
12g.101753421G>CCA386292296GNPTABc.3553C>G (p.Pro1185Ala)
c.451C>G (n.451C>G)
c.3472C>G (p.Pro1158Ala)
c.3337C>G (p.Pro1113Ala)
c.2326C>G (p.Pro776Ala)
12g.101753421G>TCA386292298GNPTABc.3553C>A (p.Pro1185Thr)
c.451C>A (n.451C>A)
c.3472C>A (p.Pro1158Thr)
c.3337C>A (p.Pro1113Thr)
c.2326C>A (p.Pro776Thr)
 gnomAD v4
12g.101753422delCA2620426039GNPTABc.3552del (p.Pro1185GlnfsTer24)
c.450del (n.450del)
c.3471del (p.Pro1158GlnfsTer24)
c.3336del (p.Pro1113GlnfsTer24)
c.2325del (p.Pro776GlnfsTer24)
 ClinVar gnomAD v4
12g.101753422C>ACA481317571GNPTABc.3552G>T (p.Leu1184=)
c.450G>T (n.450G>T)
c.3471G>T (p.Leu1157=)
c.3336G>T (p.Leu1112=)
c.2325G>T (p.Leu775=)
12g.101753422C=CA2058950553GNPTABc.3552G= (p.Leu1184=)
c.450G= (n.450G=)
c.3471G= (p.Leu1157=)
c.3336G= (p.Leu1112=)
c.2325G= (p.Leu775=)
12g.101753422C>GCA481317572GNPTABc.3552G>C (p.Leu1184=)
c.450G>C (n.450G>C)
c.3471G>C (p.Leu1157=)
c.3336G>C (p.Leu1112=)
c.2325G>C (p.Leu775=)
 dbSNP
12g.101753422C>TCA6746120GNPTABc.3552G>A (p.Leu1184=)
c.450G>A (n.450G>A)
c.3471G>A (p.Leu1157=)
c.3336G>A (p.Leu1112=)
c.2325G>A (p.Leu775=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753423A>CCA386292301GNPTABc.3551T>G (p.Leu1184Arg)
c.449T>G (n.449T>G)
c.3470T>G (p.Leu1157Arg)
c.3335T>G (p.Leu1112Arg)
c.2324T>G (p.Leu775Arg)
12g.101753423A>GCA386292304GNPTABc.3551T>C (p.Leu1184Pro)
c.449T>C (n.449T>C)
c.3470T>C (p.Leu1157Pro)
c.3335T>C (p.Leu1112Pro)
c.2324T>C (p.Leu775Pro)
12g.101753423A>TCA386292305GNPTABc.3551T>A (p.Leu1184Gln)
c.449T>A (n.449T>A)
c.3470T>A (p.Leu1157Gln)
c.3335T>A (p.Leu1112Gln)
c.2324T>A (p.Leu775Gln)
12g.101753424G>ACA481317575GNPTABc.3550C>T (p.Leu1184=)
c.448C>T (n.448C>T)
c.3469C>T (p.Leu1157=)
c.3334C>T (p.Leu1112=)
c.2323C>T (p.Leu775=)
12g.101753424G>CCA386292307GNPTABc.3550C>G (p.Leu1184Val)
c.448C>G (n.448C>G)
c.3469C>G (p.Leu1157Val)
c.3334C>G (p.Leu1112Val)
c.2323C>G (p.Leu775Val)
12g.101753424G>TCA386292309GNPTABc.3550C>A (p.Leu1184Met)
c.448C>A (n.448C>A)
c.3469C>A (p.Leu1157Met)
c.3334C>A (p.Leu1112Met)
c.2323C>A (p.Leu775Met)
12g.101753425T>ACA386292311GNPTABc.3549A>T (p.Glu1183Asp)
c.447A>T (n.447A>T)
c.3468A>T (p.Glu1156Asp)
c.3333A>T (p.Glu1111Asp)
c.2322A>T (p.Glu774Asp)
12g.101753425T>CCA481317579GNPTABc.3549A>G (p.Glu1183=)
c.447A>G (n.447A>G)
c.3468A>G (p.Glu1156=)
c.3333A>G (p.Glu1111=)
c.2322A>G (p.Glu774=)
 dbSNP
12g.101753425T>GCA386292313GNPTABc.3549A>C (p.Glu1183Asp)
c.447A>C (n.447A>C)
c.3468A>C (p.Glu1156Asp)
c.3333A>C (p.Glu1111Asp)
c.2322A>C (p.Glu774Asp)
12g.101753426T>ACA386292315GNPTABc.3548A>T (p.Glu1183Val)
c.446A>T (n.446A>T)
c.3467A>T (p.Glu1156Val)
c.3332A>T (p.Glu1111Val)
c.2321A>T (p.Glu774Val)
12g.101753426T>CCA386292320GNPTABc.3548A>G (p.Glu1183Gly)
c.446A>G (n.446A>G)
c.3467A>G (p.Glu1156Gly)
c.3332A>G (p.Glu1111Gly)
c.2321A>G (p.Glu774Gly)
12g.101753426T>GCA386292318GNPTABc.3548A>C (p.Glu1183Ala)
c.446A>C (n.446A>C)
c.3467A>C (p.Glu1156Ala)
c.3332A>C (p.Glu1111Ala)
c.2321A>C (p.Glu774Ala)
12g.101753427C>ACA386292322GNPTABc.3547G>T (p.Glu1183Ter)
c.445G>T (n.445G>T)
c.3466G>T (p.Glu1156Ter)
c.3331G>T (p.Glu1111Ter)
c.2320G>T (p.Glu774Ter)
12g.101753427C>GCA386292324GNPTABc.3547G>C (p.Glu1183Gln)
c.445G>C (n.445G>C)
c.3466G>C (p.Glu1156Gln)
c.3331G>C (p.Glu1111Gln)
c.2320G>C (p.Glu774Gln)
12g.101753427C>TCA386292326GNPTABc.3547G>A (p.Glu1183Lys)
c.445G>A (n.445G>A)
c.3466G>A (p.Glu1156Lys)
c.3331G>A (p.Glu1111Lys)
c.2320G>A (p.Glu774Lys)
12g.101753428A>CCA386292329GNPTABc.3546T>G (p.Phe1182Leu)
c.444T>G (n.444T>G)
c.3465T>G (p.Phe1155Leu)
c.3330T>G (p.Phe1110Leu)
c.2319T>G (p.Phe773Leu)
12g.101753428A>GCA481317582GNPTABc.3546T>C (p.Phe1182=)
c.444T>C (n.444T>C)
c.3465T>C (p.Phe1155=)
c.3330T>C (p.Phe1110=)
c.2319T>C (p.Phe773=)
12g.101753428A>TCA386292330GNPTABc.3546T>A (p.Phe1182Leu)
c.444T>A (n.444T>A)
c.3465T>A (p.Phe1155Leu)
c.3330T>A (p.Phe1110Leu)
c.2319T>A (p.Phe773Leu)
12g.101753429A>CCA386292331GNPTABc.3545T>G (p.Phe1182Cys)
c.443T>G (n.443T>G)
c.3464T>G (p.Phe1155Cys)
c.3329T>G (p.Phe1110Cys)
c.2318T>G (p.Phe773Cys)
12g.101753429A>GCA386292333GNPTABc.3545T>C (p.Phe1182Ser)
c.443T>C (n.443T>C)
c.3464T>C (p.Phe1155Ser)
c.3329T>C (p.Phe1110Ser)
c.2318T>C (p.Phe773Ser)
12g.101753429A>TCA386292335GNPTABc.3545T>A (p.Phe1182Tyr)
c.443T>A (n.443T>A)
c.3464T>A (p.Phe1155Tyr)
c.3329T>A (p.Phe1110Tyr)
c.2318T>A (p.Phe773Tyr)
12g.101753430A>CCA386292337GNPTABc.3544T>G (p.Phe1182Val)
c.442T>G (n.442T>G)
c.3463T>G (p.Phe1155Val)
c.3328T>G (p.Phe1110Val)
c.2317T>G (p.Phe773Val)
12g.101753430A>GCA386292339GNPTABc.3544T>C (p.Phe1182Leu)
c.442T>C (n.442T>C)
c.3463T>C (p.Phe1155Leu)
c.3328T>C (p.Phe1110Leu)
c.2317T>C (p.Phe773Leu)
12g.101753430A>TCA386292341GNPTABc.3544T>A (p.Phe1182Ile)
c.442T>A (n.442T>A)
c.3463T>A (p.Phe1155Ile)
c.3328T>A (p.Phe1110Ile)
c.2317T>A (p.Phe773Ile)
12g.101753430_101753431delinsATCA2058950554GNPTABc.3543_3544delinsAT (p.Gln1181=)
c.441_442delinsAT (n.441_442delinsAT)
c.3462_3463delinsAT (p.Gln1154=)
c.3327_3328delinsAT (p.Gln1109=)
c.2316_2317delinsAT (p.Gln772=)
12g.101753431T>ACA386292345GNPTABc.3543A>T (p.Gln1181His)
c.441A>T (n.441A>T)
c.3462A>T (p.Gln1154His)
c.3327A>T (p.Gln1109His)
c.2316A>T (p.Gln772His)
12g.101753431T>CCA481317589GNPTABc.3543A>G (p.Gln1181=)
c.441A>G (n.441A>G)
c.3462A>G (p.Gln1154=)
c.3327A>G (p.Gln1109=)
c.2316A>G (p.Gln772=)
 dbSNP
12g.101753431T>GCA386292343GNPTABc.3543A>C (p.Gln1181His)
c.441A>C (n.441A>C)
c.3462A>C (p.Gln1154His)
c.3327A>C (p.Gln1109His)
c.2316A>C (p.Gln772His)
12g.101753431T=CA2058950556GNPTABc.3543A= (p.Gln1181=)
c.441A= (n.441A=)
c.3462A= (p.Gln1154=)
c.3327A= (p.Gln1109=)
c.2316A= (p.Gln772=)
12g.101753432delCA2058950555GNPTABc.3543del (p.Gln1181HisfsTer28)
c.441del (n.441del)
c.3462del (p.Gln1154HisfsTer28)
c.3327del (p.Gln1109HisfsTer28)
c.2316del (p.Gln772HisfsTer28)
 dbSNP
12g.101753432T>ACA386292348GNPTABc.3542A>T (p.Gln1181Leu)
c.440A>T (n.440A>T)
c.3461A>T (p.Gln1154Leu)
c.3326A>T (p.Gln1109Leu)
c.2315A>T (p.Gln772Leu)
12g.101753432T>CCA386292349GNPTABc.3542A>G (p.Gln1181Arg)
c.440A>G (n.440A>G)
c.3461A>G (p.Gln1154Arg)
c.3326A>G (p.Gln1109Arg)
c.2315A>G (p.Gln772Arg)
12g.101753432T>GCA386292351GNPTABc.3542A>C (p.Gln1181Pro)
c.440A>C (n.440A>C)
c.3461A>C (p.Gln1154Pro)
c.3326A>C (p.Gln1109Pro)
c.2315A>C (p.Gln772Pro)
12g.101753433G>ACA386292354GNPTABc.3541C>T (p.Gln1181Ter)
c.439C>T (n.439C>T)
c.3460C>T (p.Gln1154Ter)
c.3325C>T (p.Gln1109Ter)
c.2314C>T (p.Gln772Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753433G>CCA386292355GNPTABc.3541C>G (p.Gln1181Glu)
c.439C>G (n.439C>G)
c.3460C>G (p.Gln1154Glu)
c.3325C>G (p.Gln1109Glu)
c.2314C>G (p.Gln772Glu)
12g.101753433G=CA2058950557GNPTABc.3541C= (p.Gln1181=)
c.439C= (n.439C=)
c.3460C= (p.Gln1154=)
c.3325C= (p.Gln1109=)
c.2314C= (p.Gln772=)
12g.101753433G>TCA386292357GNPTABc.3541C>A (p.Gln1181Lys)
c.439C>A (n.439C>A)
c.3460C>A (p.Gln1154Lys)
c.3325C>A (p.Gln1109Lys)
c.2314C>A (p.Gln772Lys)
12g.101753434G>ACA481317592GNPTABc.3540C>T (p.Ser1180=)
c.438C>T (n.438C>T)
c.3459C>T (p.Ser1153=)
c.3324C>T (p.Ser1108=)
c.2313C>T (p.Ser771=)
 ClinVar dbSNP gnomAD v4
12g.101753434G>CCA6746121GNPTABc.3540C>G (p.Ser1180=)
c.438C>G (n.438C>G)
c.3459C>G (p.Ser1153=)
c.3324C>G (p.Ser1108=)
c.2313C>G (p.Ser771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753434G=CA2058950558GNPTABc.3540C= (p.Ser1180=)
c.438C= (n.438C=)
c.3459C= (p.Ser1153=)
c.3324C= (p.Ser1108=)
c.2313C= (p.Ser771=)
12g.101753434G>TCA481317594GNPTABc.3540C>A (p.Ser1180=)
c.438C>A (n.438C>A)
c.3459C>A (p.Ser1153=)
c.3324C>A (p.Ser1108=)
c.2313C>A (p.Ser771=)
12g.101753435G>ACA16609423GNPTABc.3539C>T (p.Ser1180Phe)
c.437C>T (n.437C>T)
c.3458C>T (p.Ser1153Phe)
c.3323C>T (p.Ser1108Phe)
c.2312C>T (p.Ser771Phe)
 ClinVar dbSNP
12g.101753435G>CCA386292361GNPTABc.3539C>G (p.Ser1180Cys)
c.437C>G (n.437C>G)
c.3458C>G (p.Ser1153Cys)
c.3323C>G (p.Ser1108Cys)
c.2312C>G (p.Ser771Cys)
12g.101753435G=CA2058950559GNPTABc.3539C= (p.Ser1180=)
c.437C= (n.437C=)
c.3458C= (p.Ser1153=)
c.3323C= (p.Ser1108=)
c.2312C= (p.Ser771=)
12g.101753435G>TCA386292362GNPTABc.3539C>A (p.Ser1180Tyr)
c.437C>A (n.437C>A)
c.3458C>A (p.Ser1153Tyr)
c.3323C>A (p.Ser1108Tyr)
c.2312C>A (p.Ser771Tyr)
12g.101753436A>CCA386292364GNPTABc.3538T>G (p.Ser1180Ala)
c.436T>G (n.436T>G)
c.3457T>G (p.Ser1153Ala)
c.3322T>G (p.Ser1108Ala)
c.2311T>G (p.Ser771Ala)
12g.101753436A>GCA386292366GNPTABc.3538T>C (p.Ser1180Pro)
c.436T>C (n.436T>C)
c.3457T>C (p.Ser1153Pro)
c.3322T>C (p.Ser1108Pro)
c.2311T>C (p.Ser771Pro)
12g.101753436A>TCA386292368GNPTABc.3538T>A (p.Ser1180Thr)
c.436T>A (n.436T>A)
c.3457T>A (p.Ser1153Thr)
c.3322T>A (p.Ser1108Thr)
c.2311T>A (p.Ser771Thr)
12g.101753437A>CCA481317598GNPTABc.3537T>G (p.Pro1179=)
c.435T>G (n.435T>G)
c.3456T>G (p.Pro1152=)
c.3321T>G (p.Pro1107=)
c.2310T>G (p.Pro770=)
12g.101753437A>GCA481317600GNPTABc.3537T>C (p.Pro1179=)
c.435T>C (n.435T>C)
c.3456T>C (p.Pro1152=)
c.3321T>C (p.Pro1107=)
c.2310T>C (p.Pro770=)
12g.101753437A>TCA481317601GNPTABc.3537T>A (p.Pro1179=)
c.435T>A (n.435T>A)
c.3456T>A (p.Pro1152=)
c.3321T>A (p.Pro1107=)
c.2310T>A (p.Pro770=)
12g.101753438G>ACA386292373GNPTABc.3536C>T (p.Pro1179Leu)
c.434C>T (n.434C>T)
c.3455C>T (p.Pro1152Leu)
c.3320C>T (p.Pro1107Leu)
c.2309C>T (p.Pro770Leu)
12g.101753438G>CCA386292375GNPTABc.3536C>G (p.Pro1179Arg)
c.434C>G (n.434C>G)
c.3455C>G (p.Pro1152Arg)
c.3320C>G (p.Pro1107Arg)
c.2309C>G (p.Pro770Arg)
12g.101753438G>TCA386292371GNPTABc.3536C>A (p.Pro1179His)
c.434C>A (n.434C>A)
c.3455C>A (p.Pro1152His)
c.3320C>A (p.Pro1107His)
c.2309C>A (p.Pro770His)
12g.101753439G>ACA386292377GNPTABc.3535C>T (p.Pro1179Ser)
c.433C>T (n.433C>T)
c.3454C>T (p.Pro1152Ser)
c.3319C>T (p.Pro1107Ser)
c.2308C>T (p.Pro770Ser)
12g.101753439G>CCA386292379GNPTABc.3535C>G (p.Pro1179Ala)
c.433C>G (n.433C>G)
c.3454C>G (p.Pro1152Ala)
c.3319C>G (p.Pro1107Ala)
c.2308C>G (p.Pro770Ala)
12g.101753439G>TCA386292381GNPTABc.3535C>A (p.Pro1179Thr)
c.433C>A (n.433C>A)
c.3454C>A (p.Pro1152Thr)
c.3319C>A (p.Pro1107Thr)
c.2308C>A (p.Pro770Thr)
 gnomAD v4
12g.101753440T>ACA481317607GNPTABc.3534A>T (p.Ile1178=)
c.432A>T (n.432A>T)
c.3453A>T (p.Ile1151=)
c.3318A>T (p.Ile1106=)
c.2307A>T (p.Ile769=)
12g.101753440T>CCA6746122GNPTABc.3534A>G (p.Ile1178Met)
c.432A>G (n.432A>G)
c.3453A>G (p.Ile1151Met)
c.3318A>G (p.Ile1106Met)
c.2307A>G (p.Ile769Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753440T>GCA481317608GNPTABc.3534A>C (p.Ile1178=)
c.432A>C (n.432A>C)
c.3453A>C (p.Ile1151=)
c.3318A>C (p.Ile1106=)
c.2307A>C (p.Ile769=)
12g.101753440T=CA2058950560GNPTABc.3534A= (p.Ile1178=)
c.432A= (n.432A=)
c.3453A= (p.Ile1151=)
c.3318A= (p.Ile1106=)
c.2307A= (p.Ile769=)
12g.101753441A>CCA386292389GNPTABc.3533T>G (p.Ile1178Arg)
c.431T>G (n.431T>G)
c.3452T>G (p.Ile1151Arg)
c.3317T>G (p.Ile1106Arg)
c.2306T>G (p.Ile769Arg)
12g.101753441A>GCA386292387GNPTABc.3533T>C (p.Ile1178Thr)
c.431T>C (n.431T>C)
c.3452T>C (p.Ile1151Thr)
c.3317T>C (p.Ile1106Thr)
c.2306T>C (p.Ile769Thr)
 gnomAD v4
12g.101753441A>TCA386292385GNPTABc.3533T>A (p.Ile1178Lys)
c.431T>A (n.431T>A)
c.3452T>A (p.Ile1151Lys)
c.3317T>A (p.Ile1106Lys)
c.2306T>A (p.Ile769Lys)
12g.101753442delCA2575264832GNPTABc.3532del (p.Ile1178TyrfsTer?)
c.430del (n.430del)
c.3451del (p.Ile1151TyrfsTer?)
c.3316del (p.Ile1106TyrfsTer?)
c.2305del (p.Ile769TyrfsTer?)
 gnomAD v4
12g.101753442T>ACA386292391GNPTABc.3532A>T (p.Ile1178Leu)
c.430A>T (n.430A>T)
c.3451A>T (p.Ile1151Leu)
c.3316A>T (p.Ile1106Leu)
c.2305A>T (p.Ile769Leu)
12g.101753442T>CCA386292392GNPTABc.3532A>G (p.Ile1178Val)
c.430A>G (n.430A>G)
c.3451A>G (p.Ile1151Val)
c.3316A>G (p.Ile1106Val)
c.2305A>G (p.Ile769Val)
 gnomAD v4
12g.101753442T>GCA6746123GNPTABc.3532A>C (p.Ile1178Leu)
c.430A>C (n.430A>C)
c.3451A>C (p.Ile1151Leu)
c.3316A>C (p.Ile1106Leu)
c.2305A>C (p.Ile769Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753442T=CA2058950561GNPTABc.3532A= (p.Ile1178=)
c.430A= (n.430A=)
c.3451A= (p.Ile1151=)
c.3316A= (p.Ile1106=)
c.2305A= (p.Ile769=)
12g.101753443G>ACA481317612GNPTABc.3531C>T (p.Pro1177=)
c.429C>T (n.429C>T)
c.3450C>T (p.Pro1150=)
c.3315C>T (p.Pro1105=)
c.2304C>T (p.Pro768=)
 dbSNP gnomAD v2 gnomAD v4
12g.101753443G>CCA481317614GNPTABc.3531C>G (p.Pro1177=)
c.429C>G (n.429C>G)
c.3450C>G (p.Pro1150=)
c.3315C>G (p.Pro1105=)
c.2304C>G (p.Pro768=)
 ClinVar
12g.101753443G=CA2058950562GNPTABc.3531C= (p.Pro1177=)
c.429C= (n.429C=)
c.3450C= (p.Pro1150=)
c.3315C= (p.Pro1105=)
c.2304C= (p.Pro768=)
12g.101753443G>TCA481317615GNPTABc.3531C>A (p.Pro1177=)
c.429C>A (n.429C>A)
c.3450C>A (p.Pro1150=)
c.3315C>A (p.Pro1105=)
c.2304C>A (p.Pro768=)
12g.101753444G>ACA386292396GNPTABc.3530C>T (p.Pro1177Leu)
c.428C>T (n.428C>T)
c.3449C>T (p.Pro1150Leu)
c.3314C>T (p.Pro1105Leu)
c.2303C>T (p.Pro768Leu)
 gnomAD v4
12g.101753444G>CCA386292398GNPTABc.3530C>G (p.Pro1177Arg)
c.428C>G (n.428C>G)
c.3449C>G (p.Pro1150Arg)
c.3314C>G (p.Pro1105Arg)
c.2303C>G (p.Pro768Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753444G=CA2058950564GNPTABc.3530C= (p.Pro1177=)
c.428C= (n.428C=)
c.3449C= (p.Pro1150=)
c.3314C= (p.Pro1105=)
c.2303C= (p.Pro768=)
12g.101753444G>TCA386292400GNPTABc.3530C>A (p.Pro1177His)
c.428C>A (n.428C>A)
c.3449C>A (p.Pro1150His)
c.3314C>A (p.Pro1105His)
c.2303C>A (p.Pro768His)
12g.101753444_101753451delinsGGGAACATCA2058950563GNPTABc.3523_3530delinsATGTTCCC (p.Met1175=)
c.421_428delinsATGTTCCC (n.421_428delinsATGTTCCC)
c.3442_3449delinsATGTTCCC (p.Met1148=)
c.3307_3314delinsATGTTCCC (p.Met1103=)
c.2296_2303delinsATGTTCCC (p.Met766=)
12g.101753445G>ACA386292406GNPTABc.3529C>T (p.Pro1177Ser)
c.427C>T (n.427C>T)
c.3448C>T (p.Pro1150Ser)
c.3313C>T (p.Pro1105Ser)
c.2302C>T (p.Pro768Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753445G>CCA386292404GNPTABc.3529C>G (p.Pro1177Ala)
c.427C>G (n.427C>G)
c.3448C>G (p.Pro1150Ala)
c.3313C>G (p.Pro1105Ala)
c.2302C>G (p.Pro768Ala)
12g.101753445G=CA2058950565GNPTABc.3529C= (p.Pro1177=)
c.427C= (n.427C=)
c.3448C= (p.Pro1150=)
c.3313C= (p.Pro1105=)
c.2302C= (p.Pro768=)
12g.101753445G>TCA242447726GNPTABc.3529C>A (p.Pro1177Thr)
c.427C>A (n.427C>A)
c.3448C>A (p.Pro1150Thr)
c.3313C>A (p.Pro1105Thr)
c.2302C>A (p.Pro768Thr)
 dbSNP gnomAD v2
12g.101753448_101753454delCA343404GNPTABc.3523_3529del (p.Met1175ProfsTer?)
c.421_427del (n.421_427del)
c.3442_3448del (p.Met1148ProfsTer?)
c.3307_3313del (p.Met1103ProfsTer?)
c.2296_2302del (p.Met766ProfsTer?)
 ClinVar dbSNP
12g.101753446G>ACA481317620GNPTABc.3528C>T (p.Phe1176=)
c.426C>T (n.426C>T)
c.3447C>T (p.Phe1149=)
c.3312C>T (p.Phe1104=)
c.2301C>T (p.Phe767=)
 gnomAD v4
12g.101753446G>CCA6746125GNPTABc.3528C>G (p.Phe1176Leu)
c.426C>G (n.426C>G)
c.3447C>G (p.Phe1149Leu)
c.3312C>G (p.Phe1104Leu)
c.2301C>G (p.Phe767Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753446G=CA2058950566GNPTABc.3528C= (p.Phe1176=)
c.426C= (n.426C=)
c.3447C= (p.Phe1149=)
c.3312C= (p.Phe1104=)
c.2301C= (p.Phe767=)
12g.101753446G>TCA6746124GNPTABc.3528C>A (p.Phe1176Leu)
c.426C>A (n.426C>A)
c.3447C>A (p.Phe1149Leu)
c.3312C>A (p.Phe1104Leu)
c.2301C>A (p.Phe767Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753447A>CCA386292412GNPTABc.3527T>G (p.Phe1176Cys)
c.425T>G (n.425T>G)
c.3446T>G (p.Phe1149Cys)
c.3311T>G (p.Phe1104Cys)
c.2300T>G (p.Phe767Cys)
12g.101753447A>GCA386292414GNPTABc.3527T>C (p.Phe1176Ser)
c.425T>C (n.425T>C)
c.3446T>C (p.Phe1149Ser)
c.3311T>C (p.Phe1104Ser)
c.2300T>C (p.Phe767Ser)
12g.101753447A>TCA386292416GNPTABc.3527T>A (p.Phe1176Tyr)
c.425T>A (n.425T>A)
c.3446T>A (p.Phe1149Tyr)
c.3311T>A (p.Phe1104Tyr)
c.2300T>A (p.Phe767Tyr)
12g.101753448A>CCA386292419GNPTABc.3526T>G (p.Phe1176Val)
c.424T>G (n.424T>G)
c.3445T>G (p.Phe1149Val)
c.3310T>G (p.Phe1104Val)
c.2299T>G (p.Phe767Val)
12g.101753448A>GCA386292421GNPTABc.3526T>C (p.Phe1176Leu)
c.424T>C (n.424T>C)
c.3445T>C (p.Phe1149Leu)
c.3310T>C (p.Phe1104Leu)
c.2299T>C (p.Phe767Leu)
12g.101753448A>TCA386292423GNPTABc.3526T>A (p.Phe1176Ile)
c.424T>A (n.424T>A)
c.3445T>A (p.Phe1149Ile)
c.3310T>A (p.Phe1104Ile)
c.2299T>A (p.Phe767Ile)
12g.101753449C>ACA6746126GNPTABc.3525G>T (p.Met1175Ile)
c.423G>T (n.423G>T)
c.3444G>T (p.Met1148Ile)
c.3309G>T (p.Met1103Ile)
c.2298G>T (p.Met766Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753449C=CA2058950567GNPTABc.3525G= (p.Met1175=)
c.423G= (n.423G=)
c.3444G= (p.Met1148=)
c.3309G= (p.Met1103=)
c.2298G= (p.Met766=)
12g.101753449C>GCA386292426GNPTABc.3525G>C (p.Met1175Ile)
c.423G>C (n.423G>C)
c.3444G>C (p.Met1148Ile)
c.3309G>C (p.Met1103Ile)
c.2298G>C (p.Met766Ile)
12g.101753449C>TCA386292428GNPTABc.3525G>A (p.Met1175Ile)
c.423G>A (n.423G>A)
c.3444G>A (p.Met1148Ile)
c.3309G>A (p.Met1103Ile)
c.2298G>A (p.Met766Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.101753450A=CA2058950568GNPTABc.3524T= (p.Met1175=)
c.422T= (n.422T=)
c.3443T= (p.Met1148=)
c.3308T= (p.Met1103=)
c.2297T= (p.Met766=)
12g.101753450A>CCA6746128GNPTABc.3524T>G (p.Met1175Arg)
c.422T>G (n.422T>G)
c.3443T>G (p.Met1148Arg)
c.3308T>G (p.Met1103Arg)
c.2297T>G (p.Met766Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753450A>GCA6746127GNPTABc.3524T>C (p.Met1175Thr)
c.422T>C (n.422T>C)
c.3443T>C (p.Met1148Thr)
c.3308T>C (p.Met1103Thr)
c.2297T>C (p.Met766Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753450A>TCA386292432GNPTABc.3524T>A (p.Met1175Lys)
c.422T>A (n.422T>A)
c.3443T>A (p.Met1148Lys)
c.3308T>A (p.Met1103Lys)
c.2297T>A (p.Met766Lys)
12g.101753451T>ACA386292438GNPTABc.3523A>T (p.Met1175Leu)
c.421A>T (n.421A>T)
c.3442A>T (p.Met1148Leu)
c.3307A>T (p.Met1103Leu)
c.2296A>T (p.Met766Leu)
12g.101753451T>CCA386292436GNPTABc.3523A>G (p.Met1175Val)
c.421A>G (n.421A>G)
c.3442A>G (p.Met1148Val)
c.3307A>G (p.Met1103Val)
c.2296A>G (p.Met766Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753451T>GCA386292433GNPTABc.3523A>C (p.Met1175Leu)
c.421A>C (n.421A>C)
c.3442A>C (p.Met1148Leu)
c.3307A>C (p.Met1103Leu)
c.2296A>C (p.Met766Leu)
12g.101753451T=CA2058950569GNPTABc.3523A= (p.Met1175=)
c.421A= (n.421A=)
c.3442A= (p.Met1148=)
c.3307A= (p.Met1103=)
c.2296A= (p.Met766=)
12g.101753452G>ACA481317626GNPTABc.3522C>T (p.Ser1174=)
c.420C>T (n.420C>T)
c.3441C>T (p.Ser1147=)
c.3306C>T (p.Ser1102=)
c.2295C>T (p.Ser765=)
12g.101753452G>CCA481317627GNPTABc.3522C>G (p.Ser1174=)
c.420C>G (n.420C>G)
c.3441C>G (p.Ser1147=)
c.3306C>G (p.Ser1102=)
c.2295C>G (p.Ser765=)
12g.101753452G>TCA481317628GNPTABc.3522C>A (p.Ser1174=)
c.420C>A (n.420C>A)
c.3441C>A (p.Ser1147=)
c.3306C>A (p.Ser1102=)
c.2295C>A (p.Ser765=)
12g.101753453G>ACA386292440GNPTABc.3521C>T (p.Ser1174Phe)
c.419C>T (n.419C>T)
c.3440C>T (p.Ser1147Phe)
c.3305C>T (p.Ser1102Phe)
c.2294C>T (p.Ser765Phe)
12g.101753453G>CCA386292441GNPTABc.3521C>G (p.Ser1174Cys)
c.419C>G (n.419C>G)
c.3440C>G (p.Ser1147Cys)
c.3305C>G (p.Ser1102Cys)
c.2294C>G (p.Ser765Cys)
12g.101753453G>TCA386292443GNPTABc.3521C>A (p.Ser1174Tyr)
c.419C>A (n.419C>A)
c.3440C>A (p.Ser1147Tyr)
c.3305C>A (p.Ser1102Tyr)
c.2294C>A (p.Ser765Tyr)
12g.101753454A>CCA386292445GNPTABc.3520T>G (p.Ser1174Ala)
c.418T>G (n.418T>G)
c.3439T>G (p.Ser1147Ala)
c.3304T>G (p.Ser1102Ala)
c.2293T>G (p.Ser765Ala)
12g.101753454A>GCA386292447GNPTABc.3520T>C (p.Ser1174Pro)
c.418T>C (n.418T>C)
c.3439T>C (p.Ser1147Pro)
c.3304T>C (p.Ser1102Pro)
c.2293T>C (p.Ser765Pro)
12g.101753454A>TCA386292450GNPTABc.3520T>A (p.Ser1174Thr)
c.418T>A (n.418T>A)
c.3439T>A (p.Ser1147Thr)
c.3304T>A (p.Ser1102Thr)
c.2293T>A (p.Ser765Thr)
12g.101753455T>ACA386292452GNPTABc.3519A>T (p.Glu1173Asp)
c.417A>T (n.417A>T)
c.3438A>T (p.Glu1146Asp)
c.3303A>T (p.Glu1101Asp)
c.2292A>T (p.Glu764Asp)
12g.101753455T>CCA481317637GNPTABc.3519A>G (p.Glu1173=)
c.417A>G (n.417A>G)
c.3438A>G (p.Glu1146=)
c.3303A>G (p.Glu1101=)
c.2292A>G (p.Glu764=)
12g.101753455T>GCA386292454GNPTABc.3519A>C (p.Glu1173Asp)
c.417A>C (n.417A>C)
c.3438A>C (p.Glu1146Asp)
c.3303A>C (p.Glu1101Asp)
c.2292A>C (p.Glu764Asp)
12g.101753456T>ACA386292456GNPTABc.3518A>T (p.Glu1173Val)
c.416A>T (n.416A>T)
c.3437A>T (p.Glu1146Val)
c.3302A>T (p.Glu1101Val)
c.2291A>T (p.Glu764Val)
12g.101753456T>CCA6746129GNPTABc.3518A>G (p.Glu1173Gly)
c.416A>G (n.416A>G)
c.3437A>G (p.Glu1146Gly)
c.3302A>G (p.Glu1101Gly)
c.2291A>G (p.Glu764Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753456T>GCA386292462GNPTABc.3518A>C (p.Glu1173Ala)
c.416A>C (n.416A>C)
c.3437A>C (p.Glu1146Ala)
c.3302A>C (p.Glu1101Ala)
c.2291A>C (p.Glu764Ala)
12g.101753456T=CA2058950570GNPTABc.3518A= (p.Glu1173=)
c.416A= (n.416A=)
c.3437A= (p.Glu1146=)
c.3302A= (p.Glu1101=)
c.2291A= (p.Glu764=)
12g.101753457C>ACA386292464GNPTABc.3517G>T (p.Glu1173Ter)
c.415G>T (n.415G>T)
c.3436G>T (p.Glu1146Ter)
c.3301G>T (p.Glu1101Ter)
c.2290G>T (p.Glu764Ter)
12g.101753457C>GCA386292467GNPTABc.3517G>C (p.Glu1173Gln)
c.415G>C (n.415G>C)
c.3436G>C (p.Glu1146Gln)
c.3301G>C (p.Glu1101Gln)
c.2290G>C (p.Glu764Gln)
12g.101753457C>TCA386292468GNPTABc.3517G>A (p.Glu1173Lys)
c.415G>A (n.415G>A)
c.3436G>A (p.Glu1146Lys)
c.3301G>A (p.Glu1101Lys)
c.2290G>A (p.Glu764Lys)
12g.101753458A=CA2058950571GNPTABc.3516T= (p.Tyr1172=)
c.414T= (n.414T=)
c.3435T= (p.Tyr1145=)
c.3300T= (p.Tyr1100=)
c.2289T= (p.Tyr763=)
12g.101753458A>CCA386292473GNPTABc.3516T>G (p.Tyr1172Ter)
c.414T>G (n.414T>G)
c.3435T>G (p.Tyr1145Ter)
c.3300T>G (p.Tyr1100Ter)
c.2289T>G (p.Tyr763Ter)
12g.101753458A>GCA6746130GNPTABc.3516T>C (p.Tyr1172=)
c.414T>C (n.414T>C)
c.3435T>C (p.Tyr1145=)
c.3300T>C (p.Tyr1100=)
c.2289T>C (p.Tyr763=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753458A>TCA386292472GNPTABc.3516T>A (p.Tyr1172Ter)
c.414T>A (n.414T>A)
c.3435T>A (p.Tyr1145Ter)
c.3300T>A (p.Tyr1100Ter)
c.2289T>A (p.Tyr763Ter)
12g.101753459T>ACA6746132GNPTABc.3515A>T (p.Tyr1172Phe)
c.413A>T (n.413A>T)
c.3434A>T (p.Tyr1145Phe)
c.3299A>T (p.Tyr1100Phe)
c.2288A>T (p.Tyr763Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753459T>CCA6746131GNPTABc.3515A>G (p.Tyr1172Cys)
c.413A>G (n.413A>G)
c.3434A>G (p.Tyr1145Cys)
c.3299A>G (p.Tyr1100Cys)
c.2288A>G (p.Tyr763Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753459T>GCA386292479GNPTABc.3515A>C (p.Tyr1172Ser)
c.413A>C (n.413A>C)
c.3434A>C (p.Tyr1145Ser)
c.3299A>C (p.Tyr1100Ser)
c.2288A>C (p.Tyr763Ser)
12g.101753459T=CA2058950572GNPTABc.3515A= (p.Tyr1172=)
c.413A= (n.413A=)
c.3434A= (p.Tyr1145=)
c.3299A= (p.Tyr1100=)
c.2288A= (p.Tyr763=)
12g.101753460A=CA2058950573GNPTABc.3514T= (p.Tyr1172=)
c.412T= (n.412T=)
c.3433T= (p.Tyr1145=)
c.3298T= (p.Tyr1100=)
c.2287T= (p.Tyr763=)
12g.101753460A>CCA386292480GNPTABc.3514T>G (p.Tyr1172Asp)
c.412T>G (n.412T>G)
c.3433T>G (p.Tyr1145Asp)
c.3298T>G (p.Tyr1100Asp)
c.2287T>G (p.Tyr763Asp)
12g.101753460A>GCA386292482GNPTABc.3514T>C (p.Tyr1172His)
c.412T>C (n.412T>C)
c.3433T>C (p.Tyr1145His)
c.3298T>C (p.Tyr1100His)
c.2287T>C (p.Tyr763His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753460A>TCA386292483GNPTABc.3514T>A (p.Tyr1172Asn)
c.412T>A (n.412T>A)
c.3433T>A (p.Tyr1145Asn)
c.3298T>A (p.Tyr1100Asn)
c.2287T>A (p.Tyr763Asn)
12g.101753461G>ACA481317645GNPTABc.3513C>T (p.Phe1171=)
c.411C>T (n.411C>T)
c.3432C>T (p.Phe1144=)
c.3297C>T (p.Phe1099=)
c.2286C>T (p.Phe762=)
12g.101753461G>CCA386292485GNPTABc.3513C>G (p.Phe1171Leu)
c.411C>G (n.411C>G)
c.3432C>G (p.Phe1144Leu)
c.3297C>G (p.Phe1099Leu)
c.2286C>G (p.Phe762Leu)
12g.101753461G>TCA386292484GNPTABc.3513C>A (p.Phe1171Leu)
c.411C>A (n.411C>A)
c.3432C>A (p.Phe1144Leu)
c.3297C>A (p.Phe1099Leu)
c.2286C>A (p.Phe762Leu)
12g.101753462A=CA2058950574GNPTABc.3512T= (p.Phe1171=)
c.410T= (n.410T=)
c.3431T= (p.Phe1144=)
c.3296T= (p.Phe1099=)
c.2285T= (p.Phe762=)
12g.101753462A>CCA386292488GNPTABc.3512T>G (p.Phe1171Cys)
c.410T>G (n.410T>G)
c.3431T>G (p.Phe1144Cys)
c.3296T>G (p.Phe1099Cys)
c.2285T>G (p.Phe762Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.101753462A>GCA386292490GNPTABc.3512T>C (p.Phe1171Ser)
c.410T>C (n.410T>C)
c.3431T>C (p.Phe1144Ser)
c.3296T>C (p.Phe1099Ser)
c.2285T>C (p.Phe762Ser)
12g.101753462A>TCA386292492GNPTABc.3512T>A (p.Phe1171Tyr)
c.410T>A (n.410T>A)
c.3431T>A (p.Phe1144Tyr)
c.3296T>A (p.Phe1099Tyr)
c.2285T>A (p.Phe762Tyr)
12g.101753463A=CA2058950575GNPTABc.3511T= (p.Phe1171=)
c.409T= (n.409T=)
c.3430T= (p.Phe1144=)
c.3295T= (p.Phe1099=)
c.2284T= (p.Phe762=)
12g.101753463A>CCA242447786GNPTABc.3511T>G (p.Phe1171Val)
c.409T>G (n.409T>G)
c.3430T>G (p.Phe1144Val)
c.3295T>G (p.Phe1099Val)
c.2284T>G (p.Phe762Val)
 dbSNP gnomAD v4
12g.101753463A>GCA6746133GNPTABc.3511T>C (p.Phe1171Leu)
c.409T>C (n.409T>C)
c.3430T>C (p.Phe1144Leu)
c.3295T>C (p.Phe1099Leu)
c.2284T>C (p.Phe762Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753463A>TCA386292496GNPTABc.3511T>A (p.Phe1171Ile)
c.409T>A (n.409T>A)
c.3430T>A (p.Phe1144Ile)
c.3295T>A (p.Phe1099Ile)
c.2284T>A (p.Phe762Ile)

Number of alleles fetched