Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770400C=CA2058957966GNPTABc.1113+6G= (n.1113+6G=)
c.1032+6G= (n.1032+6G=)
c.897+6G= (n.897+6G=)
c.-115+6G= (n.-115+6G=)
12g.101770400C>TCA242462465GNPTABc.1113+6G>A (n.1113+6G>A)
c.1032+6G>A (n.1032+6G>A)
c.897+6G>A (n.897+6G>A)
c.-115+6G>A (n.-115+6G>A)
 dbSNP
12g.101770401T>ACA2620451921GNPTABc.1113+5A>T (n.1113+5A>T)
c.1032+5A>T (n.1032+5A>T)
c.897+5A>T (n.897+5A>T)
c.-115+5A>T (n.-115+5A>T)
 gnomAD v4
12g.101770401T>CCA2620451922GNPTABc.1113+5A>G (n.1113+5A>G)
c.1032+5A>G (n.1032+5A>G)
c.897+5A>G (n.897+5A>G)
c.-115+5A>G (n.-115+5A>G)
 gnomAD v4
12g.101770401T>GCA2741283239GNPTABc.1113+5A>C (n.1113+5A>C)
c.1032+5A>C (n.1032+5A>C)
c.897+5A>C (n.897+5A>C)
c.-115+5A>C (n.-115+5A>C)
12g.101770402G>ACA2058957968GNPTABc.1113+4C>T (n.1113+4C>T)
c.1032+4C>T (n.1032+4C>T)
c.897+4C>T (n.897+4C>T)
c.-115+4C>T (n.-115+4C>T)
 dbSNP gnomAD v4
12g.101770402G=CA2058957967GNPTABc.1113+4C= (n.1113+4C=)
c.1032+4C= (n.1032+4C=)
c.897+4C= (n.897+4C=)
c.-115+4C= (n.-115+4C=)
12g.101770402G>TCA2580085722GNPTABc.1113+4C>A (n.1113+4C>A)
c.1032+4C>A (n.1032+4C>A)
c.897+4C>A (n.897+4C>A)
c.-115+4C>A (n.-115+4C>A)
 ClinVar gnomAD v4
12g.101770403T>ACA2620451928GNPTABc.1113+3A>T (n.1113+3A>T)
c.1032+3A>T (n.1032+3A>T)
c.897+3A>T (n.897+3A>T)
c.-115+3A>T (n.-115+3A>T)
 gnomAD v4
12g.101770403T>CCA607597854GNPTABc.1113+3A>G (n.1113+3A>G)
c.1032+3A>G (n.1032+3A>G)
c.897+3A>G (n.897+3A>G)
c.-115+3A>G (n.-115+3A>G)
 ClinVar dbSNP gnomAD v2
12g.101770403T=CA2058957969GNPTABc.1113+3A= (n.1113+3A=)
c.1032+3A= (n.1032+3A=)
c.897+3A= (n.897+3A=)
c.-115+3A= (n.-115+3A=)
12g.101770404A>CCA386302903GNPTABc.1113+2T>G (n.1113+2T>G)
c.1032+2T>G (n.1032+2T>G)
c.897+2T>G (n.897+2T>G)
c.-115+2T>G (n.-115+2T>G)
12g.101770404A>GCA386302904GNPTABc.1113+2T>C (n.1113+2T>C)
c.1032+2T>C (n.1032+2T>C)
c.897+2T>C (n.897+2T>C)
c.-115+2T>C (n.-115+2T>C)
12g.101770404A>TCA386302905GNPTABc.1113+2T>A (n.1113+2T>A)
c.1032+2T>A (n.1032+2T>A)
c.897+2T>A (n.897+2T>A)
c.-115+2T>A (n.-115+2T>A)
12g.101770405C>ACA386302907GNPTABc.1113+1G>T (n.1113+1G>T)
c.1032+1G>T (n.1032+1G>T)
c.897+1G>T (n.897+1G>T)
c.-115+1G>T (n.-115+1G>T)
 ClinVar
12g.101770405C>GCA386302908GNPTABc.1113+1G>C (n.1113+1G>C)
c.1032+1G>C (n.1032+1G>C)
c.897+1G>C (n.897+1G>C)
c.-115+1G>C (n.-115+1G>C)
12g.101770405C>TCA386302906GNPTABc.1113+1G>A (n.1113+1G>A)
c.1032+1G>A (n.1032+1G>A)
c.897+1G>A (n.897+1G>A)
c.-115+1G>A (n.-115+1G>A)
 gnomAD v4
12g.101770406C>ACA386302909GNPTABc.1113G>T (p.Gln371His)
c.1032G>T (p.Gln344His)
c.897G>T (p.Gln299His)
c.-115G>T (n.-115G>T)
12g.101770406C>GCA386302910GNPTABc.1113G>C (p.Gln371His)
c.1032G>C (p.Gln344His)
c.897G>C (p.Gln299His)
c.-115G>C (n.-115G>C)
12g.101770406C>TCA481577240GNPTABc.1113G>A (p.Gln371=)
c.1032G>A (p.Gln344=)
c.897G>A (p.Gln299=)
c.-115G>A (n.-115G>A)
12g.101770407T>ACA386302911GNPTABc.1112A>T (p.Gln371Leu)
c.1031A>T (p.Gln344Leu)
c.896A>T (p.Gln299Leu)
c.-116A>T (n.-116A>T)
12g.101770407T>CCA386302912GNPTABc.1112A>G (p.Gln371Arg)
c.1031A>G (p.Gln344Arg)
c.896A>G (p.Gln299Arg)
c.-116A>G (n.-116A>G)
 dbSNP gnomAD v4
12g.101770407T>GCA386302913GNPTABc.1112A>C (p.Gln371Pro)
c.1031A>C (p.Gln344Pro)
c.896A>C (p.Gln299Pro)
c.-116A>C (n.-116A>C)
12g.101770407T=CA2058957970GNPTABc.1112A= (p.Gln371=)
c.1031A= (p.Gln344=)
c.896A= (p.Gln299=)
c.-116A= (n.-116A=)
12g.101770408G>ACA386302914GNPTABc.1111C>T (p.Gln371Ter)
c.1030C>T (p.Gln344Ter)
c.895C>T (p.Gln299Ter)
c.-117C>T (n.-117C>T)
12g.101770408G>CCA386302916GNPTABc.1111C>G (p.Gln371Glu)
c.1030C>G (p.Gln344Glu)
c.895C>G (p.Gln299Glu)
c.-117C>G (n.-117C>G)
12g.101770408G>TCA386302917GNPTABc.1111C>A (p.Gln371Lys)
c.1030C>A (p.Gln344Lys)
c.895C>A (p.Gln299Lys)
c.-117C>A (n.-117C>A)
12g.101770409G>ACA481577241GNPTABc.1110C>T (p.His370=)
c.1029C>T (p.His343=)
c.894C>T (p.His298=)
c.-118C>T (n.-118C>T)
 ClinVar dbSNP
12g.101770409G>CCA386302919GNPTABc.1110C>G (p.His370Gln)
c.1029C>G (p.His343Gln)
c.894C>G (p.His298Gln)
c.-118C>G (n.-118C>G)
 ClinVar dbSNP gnomAD v4
12g.101770409G=CA2058957971GNPTABc.1110C= (p.His370=)
c.1029C= (p.His343=)
c.894C= (p.His298=)
c.-118C= (n.-118C=)
12g.101770409G>TCA386302920GNPTABc.1110C>A (p.His370Gln)
c.1029C>A (p.His343Gln)
c.894C>A (p.His298Gln)
c.-118C>A (n.-118C>A)
 gnomAD v4
12g.101770410T>ACA386302922GNPTABc.1109A>T (p.His370Leu)
c.1028A>T (p.His343Leu)
c.893A>T (p.His298Leu)
c.-119A>T (n.-119A>T)
12g.101770410T>CCA386302923GNPTABc.1109A>G (p.His370Arg)
c.1028A>G (p.His343Arg)
c.893A>G (p.His298Arg)
c.-119A>G (n.-119A>G)
12g.101770410T>GCA386302925GNPTABc.1109A>C (p.His370Pro)
c.1028A>C (p.His343Pro)
c.893A>C (p.His298Pro)
c.-119A>C (n.-119A>C)
12g.101770410dupCA2620451939GNPTABc.1109dup (p.His370GlnfsTer15)
c.1028dup (p.His343GlnfsTer15)
c.893dup (p.His298GlnfsTer15)
c.-119dup (n.-119dup)
 gnomAD v4
12g.101770411G>ACA386302930GNPTABc.1108C>T (p.His370Tyr)
c.1027C>T (p.His343Tyr)
c.892C>T (p.His298Tyr)
c.-120C>T (n.-120C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101770411G>CCA386302928GNPTABc.1108C>G (p.His370Asp)
c.1027C>G (p.His343Asp)
c.892C>G (p.His298Asp)
c.-120C>G (n.-120C>G)
12g.101770411G=CA2058957972GNPTABc.1108C= (p.His370=)
c.1027C= (p.His343=)
c.892C= (p.His298=)
c.-120C= (n.-120C=)
12g.101770411G>TCA386302927GNPTABc.1108C>A (p.His370Asn)
c.1027C>A (p.His343Asn)
c.892C>A (p.His298Asn)
c.-120C>A (n.-120C>A)
12g.101770412T>ACA481577242GNPTABc.1107A>T (p.Thr369=)
c.1026A>T (p.Thr342=)
c.891A>T (p.Thr297=)
c.-121A>T (n.-121A>T)
12g.101770412T>CCA481577243GNPTABc.1107A>G (p.Thr369=)
c.1026A>G (p.Thr342=)
c.891A>G (p.Thr297=)
c.-121A>G (n.-121A>G)
12g.101770412T>GCA481577244GNPTABc.1107A>C (p.Thr369=)
c.1026A>C (p.Thr342=)
c.891A>C (p.Thr297=)
c.-121A>C (n.-121A>C)
12g.101770413G>ACA386302931GNPTABc.1106C>T (p.Thr369Ile)
c.1025C>T (p.Thr342Ile)
c.890C>T (p.Thr297Ile)
c.-122C>T (n.-122C>T)
 gnomAD v4
12g.101770413G>CCA386302933GNPTABc.1106C>G (p.Thr369Arg)
c.1025C>G (p.Thr342Arg)
c.890C>G (p.Thr297Arg)
c.-122C>G (n.-122C>G)
12g.101770413G>TCA386302934GNPTABc.1106C>A (p.Thr369Lys)
c.1025C>A (p.Thr342Lys)
c.890C>A (p.Thr297Lys)
c.-122C>A (n.-122C>A)
 gnomAD v4
12g.101770414T>ACA386302936GNPTABc.1105A>T (p.Thr369Ser)
c.1024A>T (p.Thr342Ser)
c.889A>T (p.Thr297Ser)
c.-123A>T (n.-123A>T)
12g.101770414T>CCA6746717GNPTABc.1105A>G (p.Thr369Ala)
c.1024A>G (p.Thr342Ala)
c.889A>G (p.Thr297Ala)
c.-123A>G (n.-123A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770414T>GCA386302938GNPTABc.1105A>C (p.Thr369Pro)
c.1024A>C (p.Thr342Pro)
c.889A>C (p.Thr297Pro)
c.-123A>C (n.-123A>C)
12g.101770414T=CA2058957973GNPTABc.1105A= (p.Thr369=)
c.1024A= (p.Thr342=)
c.889A= (p.Thr297=)
c.-123A= (n.-123A=)
12g.101770415T>ACA6746718GNPTABc.1104A>T (p.Val368=)
c.1023A>T (p.Val341=)
c.888A>T (p.Val296=)
c.-124A>T (n.-124A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770415T>CCA481577245GNPTABc.1104A>G (p.Val368=)
c.1023A>G (p.Val341=)
c.888A>G (p.Val296=)
c.-124A>G (n.-124A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770415T>GCA481577246GNPTABc.1104A>C (p.Val368=)
c.1023A>C (p.Val341=)
c.888A>C (p.Val296=)
c.-124A>C (n.-124A>C)
12g.101770415T=CA2058957974GNPTABc.1104A= (p.Val368=)
c.1023A= (p.Val341=)
c.888A= (p.Val296=)
c.-124A= (n.-124A=)
12g.101770416A>CCA386302940GNPTABc.1103T>G (p.Val368Gly)
c.1022T>G (p.Val341Gly)
c.887T>G (p.Val296Gly)
c.-125T>G (n.-125T>G)
12g.101770416A>GCA386302942GNPTABc.1103T>C (p.Val368Ala)
c.1022T>C (p.Val341Ala)
c.887T>C (p.Val296Ala)
c.-125T>C (n.-125T>C)
12g.101770416A>TCA386302943GNPTABc.1103T>A (p.Val368Glu)
c.1022T>A (p.Val341Glu)
c.887T>A (p.Val296Glu)
c.-125T>A (n.-125T>A)
12g.101770417C>ACA386302945GNPTABc.1102G>T (p.Val368Leu)
c.1021G>T (p.Val341Leu)
c.886G>T (p.Val296Leu)
c.-126G>T (n.-126G>T)
12g.101770417C>GCA386302946GNPTABc.1102G>C (p.Val368Leu)
c.1021G>C (p.Val341Leu)
c.886G>C (p.Val296Leu)
c.-126G>C (n.-126G>C)
12g.101770417C>TCA386302947GNPTABc.1102G>A (p.Val368Ile)
c.1021G>A (p.Val341Ile)
c.886G>A (p.Val296Ile)
c.-126G>A (n.-126G>A)
 gnomAD v4
12g.101770418T>ACA481577247GNPTABc.1101A>T (p.Ile367=)
c.1020A>T (p.Ile340=)
c.885A>T (p.Ile295=)
c.-127A>T (n.-127A>T)
12g.101770418T>CCA386302948GNPTABc.1101A>G (p.Ile367Met)
c.1020A>G (p.Ile340Met)
c.885A>G (p.Ile295Met)
c.-127A>G (n.-127A>G)
 gnomAD v4
12g.101770418T>GCA481577248GNPTABc.1101A>C (p.Ile367=)
c.1020A>C (p.Ile340=)
c.885A>C (p.Ile295=)
c.-127A>C (n.-127A>C)
12g.101770419A=CA2058957975GNPTABc.1100T= (p.Ile367=)
c.1019T= (p.Ile340=)
c.884T= (p.Ile295=)
c.-128T= (n.-128T=)
12g.101770419A>CCA386302951GNPTABc.1100T>G (p.Ile367Arg)
c.1019T>G (p.Ile340Arg)
c.884T>G (p.Ile295Arg)
c.-128T>G (n.-128T>G)
12g.101770419A>GCA386302952GNPTABc.1100T>C (p.Ile367Thr)
c.1019T>C (p.Ile340Thr)
c.884T>C (p.Ile295Thr)
c.-128T>C (n.-128T>C)
 dbSNP
12g.101770419A>TCA386302949GNPTABc.1100T>A (p.Ile367Lys)
c.1019T>A (p.Ile340Lys)
c.884T>A (p.Ile295Lys)
c.-128T>A (n.-128T>A)
12g.101770420T>ACA386302954GNPTABc.1099A>T (p.Ile367Leu)
c.1018A>T (p.Ile340Leu)
c.883A>T (p.Ile295Leu)
c.-129A>T (n.-129A>T)
12g.101770420T>CCA386302955GNPTABc.1099A>G (p.Ile367Val)
c.1018A>G (p.Ile340Val)
c.883A>G (p.Ile295Val)
c.-129A>G (n.-129A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770420T>GCA386302956GNPTABc.1099A>C (p.Ile367Leu)
c.1018A>C (p.Ile340Leu)
c.883A>C (p.Ile295Leu)
c.-129A>C (n.-129A>C)
12g.101770420T=CA2058957976GNPTABc.1099A= (p.Ile367=)
c.1018A= (p.Ile340=)
c.883A= (p.Ile295=)
c.-129A= (n.-129A=)
12g.101770421T>ACA481577251GNPTABc.1098A>T (p.Thr366=)
c.1017A>T (p.Thr339=)
c.882A>T (p.Thr294=)
c.-130A>T (n.-130A>T)
12g.101770421T>CCA481577250GNPTABc.1098A>G (p.Thr366=)
c.1017A>G (p.Thr339=)
c.882A>G (p.Thr294=)
c.-130A>G (n.-130A>G)
12g.101770421T>GCA481577249GNPTABc.1098A>C (p.Thr366=)
c.1017A>C (p.Thr339=)
c.882A>C (p.Thr294=)
c.-130A>C (n.-130A>C)
12g.101770422G>ACA386302958GNPTABc.1097C>T (p.Thr366Ile)
c.1016C>T (p.Thr339Ile)
c.881C>T (p.Thr294Ile)
c.-131C>T (n.-131C>T)
 gnomAD v4
12g.101770422G>CCA386302960GNPTABc.1097C>G (p.Thr366Arg)
c.1016C>G (p.Thr339Arg)
c.881C>G (p.Thr294Arg)
c.-131C>G (n.-131C>G)
12g.101770422G>TCA386302961GNPTABc.1097C>A (p.Thr366Lys)
c.1016C>A (p.Thr339Lys)
c.881C>A (p.Thr294Lys)
c.-131C>A (n.-131C>A)
12g.101770423T>ACA386302963GNPTABc.1096A>T (p.Thr366Ser)
c.1015A>T (p.Thr339Ser)
c.880A>T (p.Thr294Ser)
c.-132A>T (n.-132A>T)
12g.101770423T>CCA386302964GNPTABc.1096A>G (p.Thr366Ala)
c.1015A>G (p.Thr339Ala)
c.880A>G (p.Thr294Ala)
c.-132A>G (n.-132A>G)
12g.101770423T>GCA386302966GNPTABc.1096A>C (p.Thr366Pro)
c.1015A>C (p.Thr339Pro)
c.880A>C (p.Thr294Pro)
c.-132A>C (n.-132A>C)
 gnomAD v4
12g.101770424C>ACA481577252GNPTABc.1095G>T (p.Val365=)
c.1014G>T (p.Val338=)
c.879G>T (p.Val293=)
c.-133G>T (n.-133G>T)
12g.101770424C>GCA481577253GNPTABc.1095G>C (p.Val365=)
c.1014G>C (p.Val338=)
c.879G>C (p.Val293=)
c.-133G>C (n.-133G>C)
12g.101770424C>TCA481577254GNPTABc.1095G>A (p.Val365=)
c.1014G>A (p.Val338=)
c.879G>A (p.Val293=)
c.-133G>A (n.-133G>A)
12g.101770425A=CA2058957977GNPTABc.1094T= (p.Val365=)
c.1013T= (p.Val338=)
c.878T= (p.Val293=)
c.-134T= (n.-134T=)
12g.101770425A>CCA386302968GNPTABc.1094T>G (p.Val365Gly)
c.1013T>G (p.Val338Gly)
c.878T>G (p.Val293Gly)
c.-134T>G (n.-134T>G)
12g.101770425A>GCA386302969GNPTABc.1094T>C (p.Val365Ala)
c.1013T>C (p.Val338Ala)
c.878T>C (p.Val293Ala)
c.-134T>C (n.-134T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770425A>TCA386302971GNPTABc.1094T>A (p.Val365Glu)
c.1013T>A (p.Val338Glu)
c.878T>A (p.Val293Glu)
c.-134T>A (n.-134T>A)
12g.101770426C>ACA386302973GNPTABc.1093G>T (p.Val365Leu)
c.1012G>T (p.Val338Leu)
c.877G>T (p.Val293Leu)
c.-135G>T (n.-135G>T)
12g.101770426C=CA2058957978GNPTABc.1093G= (p.Val365=)
c.1012G= (p.Val338=)
c.877G= (p.Val293=)
c.-135G= (n.-135G=)
12g.101770426C>GCA242462473GNPTABc.1093G>C (p.Val365Leu)
c.1012G>C (p.Val338Leu)
c.877G>C (p.Val293Leu)
c.-135G>C (n.-135G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101770426C>TCA242462475GNPTABc.1093G>A (p.Val365Met)
c.1012G>A (p.Val338Met)
c.877G>A (p.Val293Met)
c.-135G>A (n.-135G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770427T>ACA481577255GNPTABc.1092A>T (p.Arg364=)
c.1011A>T (p.Arg337=)
c.876A>T (p.Arg292=)
c.-136A>T (n.-136A>T)
12g.101770427T>CCA481577256GNPTABc.1092A>G (p.Arg364=)
c.1011A>G (p.Arg337=)
c.876A>G (p.Arg292=)
c.-136A>G (n.-136A>G)
12g.101770427T>GCA481577257GNPTABc.1092A>C (p.Arg364=)
c.1011A>C (p.Arg337=)
c.876A>C (p.Arg292=)
c.-136A>C (n.-136A>C)
12g.101770428C>ACA386302975GNPTABc.1091G>T (p.Arg364Leu)
c.1010G>T (p.Arg337Leu)
c.875G>T (p.Arg292Leu)
c.-137G>T (n.-137G>T)
12g.101770428C=CA2058957979GNPTABc.1091G= (p.Arg364=)
c.1010G= (p.Arg337=)
c.875G= (p.Arg292=)
c.-137G= (n.-137G=)
12g.101770428C>GCA386302976GNPTABc.1091G>C (p.Arg364Pro)
c.1010G>C (p.Arg337Pro)
c.875G>C (p.Arg292Pro)
c.-137G>C (n.-137G>C)
 ClinVar dbSNP
12g.101770428C>TCA6746719GNPTABc.1091G>A (p.Arg364Gln)
c.1010G>A (p.Arg337Gln)
c.875G>A (p.Arg292Gln)
c.-137G>A (n.-137G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770429G>ACA343335GNPTABc.1090C>T (p.Arg364Ter)
c.1009C>T (p.Arg337Ter)
c.874C>T (p.Arg292Ter)
c.-138C>T (n.-138C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770429G>CCA386302978GNPTABc.1090C>G (p.Arg364Gly)
c.1009C>G (p.Arg337Gly)
c.874C>G (p.Arg292Gly)
c.-138C>G (n.-138C>G)
 gnomAD v4
12g.101770429G=CA2058957980GNPTABc.1090C= (p.Arg364=)
c.1009C= (p.Arg337=)
c.874C= (p.Arg292=)
c.-138C= (n.-138C=)
12g.101770429G>TCA481577258GNPTABc.1090C>A (p.Arg364=)
c.1009C>A (p.Arg337=)
c.874C>A (p.Arg292=)
c.-138C>A (n.-138C>A)
12g.101770430A>CCA481577259GNPTABc.1089T>G (p.Pro363=)
c.1008T>G (p.Pro336=)
c.873T>G (p.Pro291=)
c.-139T>G (n.-139T>G)
12g.101770430A>GCA481577260GNPTABc.1089T>C (p.Pro363=)
c.1008T>C (p.Pro336=)
c.873T>C (p.Pro291=)
c.-139T>C (n.-139T>C)
12g.101770430A>TCA481577261GNPTABc.1089T>A (p.Pro363=)
c.1008T>A (p.Pro336=)
c.873T>A (p.Pro291=)
c.-139T>A (n.-139T>A)
12g.101770431G>ACA386302980GNPTABc.1088C>T (p.Pro363Leu)
c.1007C>T (p.Pro336Leu)
c.872C>T (p.Pro291Leu)
c.-140C>T (n.-140C>T)
12g.101770431G>CCA386302982GNPTABc.1088C>G (p.Pro363Arg)
c.1007C>G (p.Pro336Arg)
c.872C>G (p.Pro291Arg)
c.-140C>G (n.-140C>G)
12g.101770431G>TCA386302983GNPTABc.1088C>A (p.Pro363His)
c.1007C>A (p.Pro336His)
c.872C>A (p.Pro291His)
c.-140C>A (n.-140C>A)
12g.101770432G>ACA386302985GNPTABc.1087C>T (p.Pro363Ser)
c.1006C>T (p.Pro336Ser)
c.871C>T (p.Pro291Ser)
c.-141C>T (n.-141C>T)
12g.101770432G>CCA386302986GNPTABc.1087C>G (p.Pro363Ala)
c.1006C>G (p.Pro336Ala)
c.871C>G (p.Pro291Ala)
c.-141C>G (n.-141C>G)
12g.101770432G=CA2058957981GNPTABc.1087C= (p.Pro363=)
c.1006C= (p.Pro336=)
c.871C= (p.Pro291=)
c.-141C= (n.-141C=)
12g.101770432G>TCA386302988GNPTABc.1087C>A (p.Pro363Thr)
c.1006C>A (p.Pro336Thr)
c.871C>A (p.Pro291Thr)
c.-141C>A (n.-141C>A)
 dbSNP
12g.101770433A=CA2058957982GNPTABc.1086T= (p.Asn362=)
c.1005T= (p.Asn335=)
c.870T= (p.Asn290=)
c.-142T= (n.-142T=)
12g.101770433A>CCA386302989GNPTABc.1086T>G (p.Asn362Lys)
c.1005T>G (p.Asn335Lys)
c.870T>G (p.Asn290Lys)
c.-142T>G (n.-142T>G)
12g.101770433A>GCA242462485GNPTABc.1086T>C (p.Asn362=)
c.1005T>C (p.Asn335=)
c.870T>C (p.Asn290=)
c.-142T>C (n.-142T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770433A>TCA386302991GNPTABc.1086T>A (p.Asn362Lys)
c.1005T>A (p.Asn335Lys)
c.870T>A (p.Asn290Lys)
c.-142T>A (n.-142T>A)
12g.101770434T>ACA386302994GNPTABc.1085A>T (p.Asn362Ile)
c.1004A>T (p.Asn335Ile)
c.869A>T (p.Asn290Ile)
c.-143A>T (n.-143A>T)
12g.101770434T>CCA6746720GNPTABc.1085A>G (p.Asn362Ser)
c.1004A>G (p.Asn335Ser)
c.869A>G (p.Asn290Ser)
c.-143A>G (n.-143A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770434T>GCA386302992GNPTABc.1085A>C (p.Asn362Thr)
c.1004A>C (p.Asn335Thr)
c.869A>C (p.Asn290Thr)
c.-143A>C (n.-143A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101770434T=CA2058957983GNPTABc.1085A= (p.Asn362=)
c.1004A= (p.Asn335=)
c.869A= (p.Asn290=)
c.-143A= (n.-143A=)
12g.101770435T>ACA386302997GNPTABc.1084A>T (p.Asn362Tyr)
c.1003A>T (p.Asn335Tyr)
c.868A>T (p.Asn290Tyr)
c.-144A>T (n.-144A>T)
12g.101770435T>CCA386302996GNPTABc.1084A>G (p.Asn362Asp)
c.1003A>G (p.Asn335Asp)
c.868A>G (p.Asn290Asp)
c.-144A>G (n.-144A>G)
12g.101770435T>GCA386302998GNPTABc.1084A>C (p.Asn362His)
c.1003A>C (p.Asn335His)
c.868A>C (p.Asn290His)
c.-144A>C (n.-144A>C)
12g.101770436G>ACA6746721GNPTABc.1083C>T (p.Asp361=)
c.1002C>T (p.Asp334=)
c.867C>T (p.Asp289=)
c.-145C>T (n.-145C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770436G>CCA386303003GNPTABc.1083C>G (p.Asp361Glu)
c.1002C>G (p.Asp334Glu)
c.867C>G (p.Asp289Glu)
c.-145C>G (n.-145C>G)
12g.101770436G=CA2058957984GNPTABc.1083C= (p.Asp361=)
c.1002C= (p.Asp334=)
c.867C= (p.Asp289=)
c.-145C= (n.-145C=)
12g.101770436G>TCA386303001GNPTABc.1083C>A (p.Asp361Glu)
c.1002C>A (p.Asp334Glu)
c.867C>A (p.Asp289Glu)
c.-145C>A (n.-145C>A)
12g.101770437T>ACA386303004GNPTABc.1082A>T (p.Asp361Val)
c.1001A>T (p.Asp334Val)
c.866A>T (p.Asp289Val)
c.-146A>T (n.-146A>T)
12g.101770437T>CCA386303005GNPTABc.1082A>G (p.Asp361Gly)
c.1001A>G (p.Asp334Gly)
c.866A>G (p.Asp289Gly)
c.-146A>G (n.-146A>G)
12g.101770437T>GCA386303007GNPTABc.1082A>C (p.Asp361Ala)
c.1001A>C (p.Asp334Ala)
c.866A>C (p.Asp289Ala)
c.-146A>C (n.-146A>C)
12g.101770438C>ACA386303008GNPTABc.1081G>T (p.Asp361Tyr)
c.1000G>T (p.Asp334Tyr)
c.865G>T (p.Asp289Tyr)
c.-147G>T (n.-147G>T)
12g.101770438C>GCA386303010GNPTABc.1081G>C (p.Asp361His)
c.1000G>C (p.Asp334His)
c.865G>C (p.Asp289His)
c.-147G>C (n.-147G>C)
12g.101770438C>TCA386303011GNPTABc.1081G>A (p.Asp361Asn)
c.1000G>A (p.Asp334Asn)
c.865G>A (p.Asp289Asn)
c.-147G>A (n.-147G>A)
 gnomAD v4
12g.101770439A>CCA481577262GNPTABc.1080T>G (p.Leu360=)
c.999T>G (p.Leu333=)
c.864T>G (p.Leu288=)
c.-148T>G (n.-148T>G)
12g.101770439A>GCA481577263GNPTABc.1080T>C (p.Leu360=)
c.999T>C (p.Leu333=)
c.864T>C (p.Leu288=)
c.-148T>C (n.-148T>C)
12g.101770439A>TCA481577264GNPTABc.1080T>A (p.Leu360=)
c.999T>A (p.Leu333=)
c.864T>A (p.Leu288=)
c.-148T>A (n.-148T>A)
12g.101770440A>CCA386303013GNPTABc.1079T>G (p.Leu360Arg)
c.998T>G (p.Leu333Arg)
c.863T>G (p.Leu288Arg)
c.-149T>G (n.-149T>G)
12g.101770440A>GCA386303014GNPTABc.1079T>C (p.Leu360Pro)
c.998T>C (p.Leu333Pro)
c.863T>C (p.Leu288Pro)
c.-149T>C (n.-149T>C)
12g.101770440A>TCA386303015GNPTABc.1079T>A (p.Leu360His)
c.998T>A (p.Leu333His)
c.863T>A (p.Leu288His)
c.-149T>A (n.-149T>A)
12g.101770441G>ACA6746722GNPTABc.1078C>T (p.Leu360Phe)
c.997C>T (p.Leu333Phe)
c.862C>T (p.Leu288Phe)
c.-150C>T (n.-150C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770441G>CCA386303018GNPTABc.1078C>G (p.Leu360Val)
c.997C>G (p.Leu333Val)
c.862C>G (p.Leu288Val)
c.-150C>G (n.-150C>G)
 dbSNP
12g.101770441G=CA2058957985GNPTABc.1078C= (p.Leu360=)
c.997C= (p.Leu333=)
c.862C= (p.Leu288=)
c.-150C= (n.-150C=)
12g.101770441G>TCA386303019GNPTABc.1078C>A (p.Leu360Ile)
c.997C>A (p.Leu333Ile)
c.862C>A (p.Leu288Ile)
c.-150C>A (n.-150C>A)
12g.101770442G>ACA481577265GNPTABc.1077C>T (p.Asn359=)
c.996C>T (p.Asn332=)
c.861C>T (p.Asn287=)
c.-151C>T (n.-151C>T)
12g.101770442G>CCA386303021GNPTABc.1077C>G (p.Asn359Lys)
c.996C>G (p.Asn332Lys)
c.861C>G (p.Asn287Lys)
c.-151C>G (n.-151C>G)
12g.101770442G=CA2058957986GNPTABc.1077C= (p.Asn359=)
c.996C= (p.Asn332=)
c.861C= (p.Asn287=)
c.-151C= (n.-151C=)
12g.101770442G>TCA386303020GNPTABc.1077C>A (p.Asn359Lys)
c.996C>A (p.Asn332Lys)
c.861C>A (p.Asn287Lys)
c.-151C>A (n.-151C>A)
 dbSNP
12g.101770443T>ACA386303023GNPTABc.1076A>T (p.Asn359Ile)
c.995A>T (p.Asn332Ile)
c.860A>T (p.Asn287Ile)
c.-152A>T (n.-152A>T)
12g.101770443T>CCA386303025GNPTABc.1076A>G (p.Asn359Ser)
c.995A>G (p.Asn332Ser)
c.860A>G (p.Asn287Ser)
c.-152A>G (n.-152A>G)
12g.101770443T>GCA386303027GNPTABc.1076A>C (p.Asn359Thr)
c.995A>C (p.Asn332Thr)
c.860A>C (p.Asn287Thr)
c.-152A>C (n.-152A>C)
12g.101770444T>ACA386303028GNPTABc.1075A>T (p.Asn359Tyr)
c.994A>T (p.Asn332Tyr)
c.859A>T (p.Asn287Tyr)
c.-153A>T (n.-153A>T)
12g.101770444T>CCA386303029GNPTABc.1075A>G (p.Asn359Asp)
c.994A>G (p.Asn332Asp)
c.859A>G (p.Asn287Asp)
c.-153A>G (n.-153A>G)
12g.101770444T>GCA386303030GNPTABc.1075A>C (p.Asn359His)
c.994A>C (p.Asn332His)
c.859A>C (p.Asn287His)
c.-153A>C (n.-153A>C)
12g.101770445C>ACA481577266GNPTABc.1074G>T (p.Leu358=)
c.993G>T (p.Leu331=)
c.858G>T (p.Leu286=)
c.-154G>T (n.-154G>T)
12g.101770445C>GCA481577267GNPTABc.1074G>C (p.Leu358=)
c.993G>C (p.Leu331=)
c.858G>C (p.Leu286=)
c.-154G>C (n.-154G>C)
12g.101770445C>TCA481577268GNPTABc.1074G>A (p.Leu358=)
c.993G>A (p.Leu331=)
c.858G>A (p.Leu286=)
c.-154G>A (n.-154G>A)
12g.101770446A>CCA386303035GNPTABc.1073T>G (p.Leu358Arg)
c.992T>G (p.Leu331Arg)
c.857T>G (p.Leu286Arg)
c.-155T>G (n.-155T>G)
12g.101770446A>GCA386303032GNPTABc.1073T>C (p.Leu358Pro)
c.992T>C (p.Leu331Pro)
c.857T>C (p.Leu286Pro)
c.-155T>C (n.-155T>C)
12g.101770446A>TCA386303034GNPTABc.1073T>A (p.Leu358Gln)
c.992T>A (p.Leu331Gln)
c.857T>A (p.Leu286Gln)
c.-155T>A (n.-155T>A)
12g.101770447G>ACA481577269GNPTABc.1072C>T (p.Leu358=)
c.991C>T (p.Leu331=)
c.856C>T (p.Leu286=)
c.-156C>T (n.-156C>T)
 ClinVar dbSNP
12g.101770447G>CCA386303037GNPTABc.1072C>G (p.Leu358Val)
c.991C>G (p.Leu331Val)
c.856C>G (p.Leu286Val)
c.-156C>G (n.-156C>G)
12g.101770447G>TCA386303039GNPTABc.1072C>A (p.Leu358Met)
c.991C>A (p.Leu331Met)
c.856C>A (p.Leu286Met)
c.-156C>A (n.-156C>A)
12g.101770448C>ACA386303040GNPTABc.1071G>T (p.Trp357Cys)
c.990G>T (p.Trp330Cys)
c.855G>T (p.Trp285Cys)
c.-157G>T (n.-157G>T)
12g.101770448C>GCA386303041GNPTABc.1071G>C (p.Trp357Cys)
c.990G>C (p.Trp330Cys)
c.855G>C (p.Trp285Cys)
c.-157G>C (n.-157G>C)
12g.101770448C>TCA386303042GNPTABc.1071G>A (p.Trp357Ter)
c.990G>A (p.Trp330Ter)
c.855G>A (p.Trp285Ter)
c.-157G>A (n.-157G>A)
 ClinVar dbSNP
12g.101770449C>ACA386303043GNPTABc.1070G>T (p.Trp357Leu)
c.989G>T (p.Trp330Leu)
c.854G>T (p.Trp285Leu)
c.-158G>T (n.-158G>T)
12g.101770449C>GCA386303047GNPTABc.1070G>C (p.Trp357Ser)
c.989G>C (p.Trp330Ser)
c.854G>C (p.Trp285Ser)
c.-158G>C (n.-158G>C)
12g.101770449C>TCA386303044GNPTABc.1070G>A (p.Trp357Ter)
c.989G>A (p.Trp330Ter)
c.854G>A (p.Trp285Ter)
c.-158G>A (n.-158G>A)
12g.101770450A>CCA386303048GNPTABc.1069T>G (p.Trp357Gly)
c.988T>G (p.Trp330Gly)
c.853T>G (p.Trp285Gly)
c.-159T>G (n.-159T>G)
12g.101770450A>GCA386303050GNPTABc.1069T>C (p.Trp357Arg)
c.988T>C (p.Trp330Arg)
c.853T>C (p.Trp285Arg)
c.-159T>C (n.-159T>C)
12g.101770450A>TCA386303051GNPTABc.1069T>A (p.Trp357Arg)
c.988T>A (p.Trp330Arg)
c.853T>A (p.Trp285Arg)
c.-159T>A (n.-159T>A)
12g.101770451G>ACA481577270GNPTABc.1068C>T (p.Ser356=)
c.987C>T (p.Ser329=)
c.852C>T (p.Ser284=)
c.-160C>T (n.-160C>T)
12g.101770451G>CCA481577271GNPTABc.1068C>G (p.Ser356=)
c.987C>G (p.Ser329=)
c.852C>G (p.Ser284=)
c.-160C>G (n.-160C>G)
12g.101770451G>TCA481577272GNPTABc.1068C>A (p.Ser356=)
c.987C>A (p.Ser329=)
c.852C>A (p.Ser284=)
c.-160C>A (n.-160C>A)
12g.101770452G>ACA386303053GNPTABc.1067C>T (p.Ser356Phe)
c.986C>T (p.Ser329Phe)
c.851C>T (p.Ser284Phe)
c.-161C>T (n.-161C>T)
12g.101770452G>CCA386303054GNPTABc.1067C>G (p.Ser356Cys)
c.986C>G (p.Ser329Cys)
c.851C>G (p.Ser284Cys)
c.-161C>G (n.-161C>G)
 gnomAD v4
12g.101770452G>TCA386303055GNPTABc.1067C>A (p.Ser356Tyr)
c.986C>A (p.Ser329Tyr)
c.851C>A (p.Ser284Tyr)
c.-161C>A (n.-161C>A)
12g.101770453A>CCA386303058GNPTABc.1066T>G (p.Ser356Ala)
c.985T>G (p.Ser329Ala)
c.850T>G (p.Ser284Ala)
c.-162T>G (n.-162T>G)
12g.101770453A>GCA386303059GNPTABc.1066T>C (p.Ser356Pro)
c.985T>C (p.Ser329Pro)
c.850T>C (p.Ser284Pro)
c.-162T>C (n.-162T>C)
12g.101770453A>TCA386303061GNPTABc.1066T>A (p.Ser356Thr)
c.985T>A (p.Ser329Thr)
c.850T>A (p.Ser284Thr)
c.-162T>A (n.-162T>A)
 gnomAD v4
12g.101770454T>ACA481577273GNPTABc.1065A>T (p.Pro355=)
c.984A>T (p.Pro328=)
c.849A>T (p.Pro283=)
c.-163A>T (n.-163A>T)
12g.101770454T>CCA481577274GNPTABc.1065A>G (p.Pro355=)
c.984A>G (p.Pro328=)
c.849A>G (p.Pro283=)
c.-163A>G (n.-163A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770454T>GCA481577275GNPTABc.1065A>C (p.Pro355=)
c.984A>C (p.Pro328=)
c.849A>C (p.Pro283=)
c.-163A>C (n.-163A>C)
12g.101770454T=CA2058957987GNPTABc.1065A= (p.Pro355=)
c.984A= (p.Pro328=)
c.849A= (p.Pro283=)
c.-163A= (n.-163A=)
12g.101770455G>ACA386303062GNPTABc.1064C>T (p.Pro355Leu)
c.983C>T (p.Pro328Leu)
c.848C>T (p.Pro283Leu)
c.-164C>T (n.-164C>T)
 gnomAD v4
12g.101770455G>CCA386303063GNPTABc.1064C>G (p.Pro355Arg)
c.983C>G (p.Pro328Arg)
c.848C>G (p.Pro283Arg)
c.-164C>G (n.-164C>G)
12g.101770455G>TCA386303065GNPTABc.1064C>A (p.Pro355Gln)
c.983C>A (p.Pro328Gln)
c.848C>A (p.Pro283Gln)
c.-164C>A (n.-164C>A)
12g.101770456G>ACA386303070GNPTABc.1063C>T (p.Pro355Ser)
c.982C>T (p.Pro328Ser)
c.847C>T (p.Pro283Ser)
c.-165C>T (n.-165C>T)
 gnomAD v4
12g.101770456G>CCA386303069GNPTABc.1063C>G (p.Pro355Ala)
c.982C>G (p.Pro328Ala)
c.847C>G (p.Pro283Ala)
c.-165C>G (n.-165C>G)
12g.101770456G>TCA386303067GNPTABc.1063C>A (p.Pro355Thr)
c.982C>A (p.Pro328Thr)
c.847C>A (p.Pro283Thr)
c.-165C>A (n.-165C>A)
12g.101770457A>CCA386303071GNPTABc.1062T>G (p.Ile354Met)
c.981T>G (p.Ile327Met)
c.846T>G (p.Ile282Met)
c.-166T>G (n.-166T>G)
12g.101770457A>GCA481577276GNPTABc.1062T>C (p.Ile354=)
c.981T>C (p.Ile327=)
c.846T>C (p.Ile282=)
c.-166T>C (n.-166T>C)
12g.101770457A>TCA481577277GNPTABc.1062T>A (p.Ile354=)
c.981T>A (p.Ile327=)
c.846T>A (p.Ile282=)
c.-166T>A (n.-166T>A)
12g.101770458A>CCA386303073GNPTABc.1061T>G (p.Ile354Ser)
c.980T>G (p.Ile327Ser)
c.845T>G (p.Ile282Ser)
c.-167T>G (n.-167T>G)
12g.101770458A>GCA386303075GNPTABc.1061T>C (p.Ile354Thr)
c.980T>C (p.Ile327Thr)
c.845T>C (p.Ile282Thr)
c.-167T>C (n.-167T>C)
12g.101770458A>TCA386303076GNPTABc.1061T>A (p.Ile354Asn)
c.980T>A (p.Ile327Asn)
c.845T>A (p.Ile282Asn)
c.-167T>A (n.-167T>A)
12g.101770459T>ACA386303078GNPTABc.1060A>T (p.Ile354Phe)
c.979A>T (p.Ile327Phe)
c.844A>T (p.Ile282Phe)
c.-168A>T (n.-168A>T)
12g.101770459T>CCA242462533GNPTABc.1060A>G (p.Ile354Val)
c.979A>G (p.Ile327Val)
c.844A>G (p.Ile282Val)
c.-168A>G (n.-168A>G)
 dbSNP gnomAD v4
12g.101770459T>GCA386303080GNPTABc.1060A>C (p.Ile354Leu)
c.979A>C (p.Ile327Leu)
c.844A>C (p.Ile282Leu)
c.-168A>C (n.-168A>C)
12g.101770459T=CA2058957988GNPTABc.1060A= (p.Ile354=)
c.979A= (p.Ile327=)
c.844A= (p.Ile282=)
c.-168A= (n.-168A=)
12g.101770460C>ACA386303082GNPTABc.1059G>T (p.Gln353His)
c.978G>T (p.Gln326His)
c.843G>T (p.Gln281His)
c.-169G>T (n.-169G>T)
12g.101770460C>GCA386303083GNPTABc.1059G>C (p.Gln353His)
c.978G>C (p.Gln326His)
c.843G>C (p.Gln281His)
c.-169G>C (n.-169G>C)
12g.101770460C>TCA481577278GNPTABc.1059G>A (p.Gln353=)
c.978G>A (p.Gln326=)
c.843G>A (p.Gln281=)
c.-169G>A (n.-169G>A)
12g.101770461T>ACA386303084GNPTABc.1058A>T (p.Gln353Leu)
c.977A>T (p.Gln326Leu)
c.842A>T (p.Gln281Leu)
c.-170A>T (n.-170A>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101770461T>CCA386303086GNPTABc.1058A>G (p.Gln353Arg)
c.977A>G (p.Gln326Arg)
c.842A>G (p.Gln281Arg)
c.-170A>G (n.-170A>G)
12g.101770461T>GCA386303088GNPTABc.1058A>C (p.Gln353Pro)
c.977A>C (p.Gln326Pro)
c.842A>C (p.Gln281Pro)
c.-170A>C (n.-170A>C)
12g.101770461T=CA2058957989GNPTABc.1058A= (p.Gln353=)
c.977A= (p.Gln326=)
c.842A= (p.Gln281=)
c.-170A= (n.-170A=)
12g.101770462G>ACA386303089GNPTABc.1057C>T (p.Gln353Ter)
c.976C>T (p.Gln326Ter)
c.841C>T (p.Gln281Ter)
c.-171C>T (n.-171C>T)
12g.101770462G>CCA386303092GNPTABc.1057C>G (p.Gln353Glu)
c.976C>G (p.Gln326Glu)
c.841C>G (p.Gln281Glu)
c.-171C>G (n.-171C>G)
12g.101770462G>TCA386303090GNPTABc.1057C>A (p.Gln353Lys)
c.976C>A (p.Gln326Lys)
c.841C>A (p.Gln281Lys)
c.-171C>A (n.-171C>A)
12g.101770463C>ACA481577279GNPTABc.1056G>T (p.Gly352=)
c.975G>T (p.Gly325=)
c.840G>T (p.Gly280=)
c.-172G>T (n.-172G>T)
 COSMIC
12g.101770463C>GCA481577280GNPTABc.1056G>C (p.Gly352=)
c.975G>C (p.Gly325=)
c.840G>C (p.Gly280=)
c.-172G>C (n.-172G>C)
12g.101770463C>TCA481577281GNPTABc.1056G>A (p.Gly352=)
c.975G>A (p.Gly325=)
c.840G>A (p.Gly280=)
c.-172G>A (n.-172G>A)
12g.101770464C>ACA386303093GNPTABc.1055G>T (p.Gly352Val)
c.974G>T (p.Gly325Val)
c.839G>T (p.Gly280Val)
c.-173G>T (n.-173G>T)
12g.101770464C>GCA386303097GNPTABc.1055G>C (p.Gly352Ala)
c.974G>C (p.Gly325Ala)
c.839G>C (p.Gly280Ala)
c.-173G>C (n.-173G>C)
12g.101770464C>TCA386303095GNPTABc.1055G>A (p.Gly352Glu)
c.974G>A (p.Gly325Glu)
c.839G>A (p.Gly280Glu)
c.-173G>A (n.-173G>A)
12g.101770465C>ACA386303098GNPTABc.1054G>T (p.Gly352Trp)
c.973G>T (p.Gly325Trp)
c.838G>T (p.Gly280Trp)
c.-174G>T (n.-174G>T)
12g.101770465C=CA2058957990GNPTABc.1054G= (p.Gly352=)
c.973G= (p.Gly325=)
c.838G= (p.Gly280=)
c.-174G= (n.-174G=)
12g.101770465C>GCA386303099GNPTABc.1054G>C (p.Gly352Arg)
c.973G>C (p.Gly325Arg)
c.838G>C (p.Gly280Arg)
c.-174G>C (n.-174G>C)
 gnomAD v4
12g.101770465C>TCA6746723GNPTABc.1054G>A (p.Gly352Arg)
c.973G>A (p.Gly325Arg)
c.838G>A (p.Gly280Arg)
c.-174G>A (n.-174G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770466G>ACA6746724GNPTABc.1053C>T (p.Asn351=)
c.972C>T (p.Asn324=)
c.837C>T (p.Asn279=)
c.-175C>T (n.-175C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770466G>CCA386303103GNPTABc.1053C>G (p.Asn351Lys)
c.972C>G (p.Asn324Lys)
c.837C>G (p.Asn279Lys)
c.-175C>G (n.-175C>G)
12g.101770466G=CA2058957991GNPTABc.1053C= (p.Asn351=)
c.972C= (p.Asn324=)
c.837C= (p.Asn279=)
c.-175C= (n.-175C=)
12g.101770466G>TCA386303104GNPTABc.1053C>A (p.Asn351Lys)
c.972C>A (p.Asn324Lys)
c.837C>A (p.Asn279Lys)
c.-175C>A (n.-175C>A)
12g.101770467T>ACA386303106GNPTABc.1052A>T (p.Asn351Ile)
c.971A>T (p.Asn324Ile)
c.836A>T (p.Asn279Ile)
c.-176A>T (n.-176A>T)
12g.101770467T>CCA6746725GNPTABc.1052A>G (p.Asn351Ser)
c.971A>G (p.Asn324Ser)
c.836A>G (p.Asn279Ser)
c.-176A>G (n.-176A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770467T>GCA386303108GNPTABc.1052A>C (p.Asn351Thr)
c.971A>C (p.Asn324Thr)
c.836A>C (p.Asn279Thr)
c.-176A>C (n.-176A>C)
12g.101770467T=CA2058957992GNPTABc.1052A= (p.Asn351=)
c.971A= (p.Asn324=)
c.836A= (p.Asn279=)
c.-176A= (n.-176A=)
12g.101770468dupCA2620452042GNPTABc.1052dup (p.Asn351LysfsTer11)
c.971dup (p.Asn324LysfsTer11)
c.836dup (p.Asn279LysfsTer11)
c.-176dup (n.-176dup)
 ClinVar gnomAD v4
12g.101770468T>ACA386303109GNPTABc.1051A>T (p.Asn351Tyr)
c.970A>T (p.Asn324Tyr)
c.835A>T (p.Asn279Tyr)
c.-177A>T (n.-177A>T)
12g.101770468T>CCA6746726GNPTABc.1051A>G (p.Asn351Asp)
c.970A>G (p.Asn324Asp)
c.835A>G (p.Asn279Asp)
c.-177A>G (n.-177A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770468T>GCA386303111GNPTABc.1051A>C (p.Asn351His)
c.970A>C (p.Asn324His)
c.835A>C (p.Asn279His)
c.-177A>C (n.-177A>C)
12g.101770468T=CA2058957993GNPTABc.1051A= (p.Asn351=)
c.970A= (p.Asn324=)
c.835A= (p.Asn279=)
c.-177A= (n.-177A=)
12g.101770469G>ACA481577283GNPTABc.1050C>T (p.Thr350=)
c.969C>T (p.Thr323=)
c.834C>T (p.Thr278=)
c.-178C>T (n.-178C>T)
 ClinVar
12g.101770469G>CCA481577284GNPTABc.1050C>G (p.Thr350=)
c.969C>G (p.Thr323=)
c.834C>G (p.Thr278=)
c.-178C>G (n.-178C>G)
12g.101770469G>TCA481577282GNPTABc.1050C>A (p.Thr350=)
c.969C>A (p.Thr323=)
c.834C>A (p.Thr278=)
c.-178C>A (n.-178C>A)
12g.101770470G>ACA386303116GNPTABc.1049C>T (p.Thr350Ile)
c.968C>T (p.Thr323Ile)
c.833C>T (p.Thr278Ile)
c.-179C>T (n.-179C>T)
12g.101770470G>CCA386303112GNPTABc.1049C>G (p.Thr350Ser)
c.968C>G (p.Thr323Ser)
c.833C>G (p.Thr278Ser)
c.-179C>G (n.-179C>G)
 gnomAD v4
12g.101770470G>TCA386303114GNPTABc.1049C>A (p.Thr350Asn)
c.968C>A (p.Thr323Asn)
c.833C>A (p.Thr278Asn)
c.-179C>A (n.-179C>A)
12g.101770471T>ACA386303118GNPTABc.1048A>T (p.Thr350Ser)
c.967A>T (p.Thr323Ser)
c.832A>T (p.Thr278Ser)
c.-180A>T (n.-180A>T)
12g.101770471T>CCA386303119GNPTABc.1048A>G (p.Thr350Ala)
c.967A>G (p.Thr323Ala)
c.832A>G (p.Thr278Ala)
c.-180A>G (n.-180A>G)
12g.101770471T>GCA386303120GNPTABc.1048A>C (p.Thr350Pro)
c.967A>C (p.Thr323Pro)
c.832A>C (p.Thr278Pro)
c.-180A>C (n.-180A>C)
12g.101770472G>ACA481577287GNPTABc.1047C>T (p.Val349=)
c.966C>T (p.Val322=)
c.831C>T (p.Val277=)
c.-181C>T (n.-181C>T)
 ClinVar dbSNP gnomAD v4
12g.101770472G>CCA481577286GNPTABc.1047C>G (p.Val349=)
c.966C>G (p.Val322=)
c.831C>G (p.Val277=)
c.-181C>G (n.-181C>G)
12g.101770472G>TCA481577285GNPTABc.1047C>A (p.Val349=)
c.966C>A (p.Val322=)
c.831C>A (p.Val277=)
c.-181C>A (n.-181C>A)
12g.101770473A>CCA386303122GNPTABc.1046T>G (p.Val349Gly)
c.965T>G (p.Val322Gly)
c.830T>G (p.Val277Gly)
c.-182T>G (n.-182T>G)
12g.101770473A>GCA386303124GNPTABc.1046T>C (p.Val349Ala)
c.965T>C (p.Val322Ala)
c.830T>C (p.Val277Ala)
c.-182T>C (n.-182T>C)
12g.101770473A>TCA386303126GNPTABc.1046T>A (p.Val349Asp)
c.965T>A (p.Val322Asp)
c.830T>A (p.Val277Asp)
c.-182T>A (n.-182T>A)
12g.101770474C>ACA386303127GNPTABc.1045G>T (p.Val349Phe)
c.964G>T (p.Val322Phe)
c.829G>T (p.Val277Phe)
c.-183G>T (n.-183G>T)
12g.101770474C=CA2058957994GNPTABc.1045G= (p.Val349=)
c.964G= (p.Val322=)
c.829G= (p.Val277=)
c.-183G= (n.-183G=)
12g.101770474C>GCA386303128GNPTABc.1045G>C (p.Val349Leu)
c.964G>C (p.Val322Leu)
c.829G>C (p.Val277Leu)
c.-183G>C (n.-183G>C)
12g.101770474C>TCA386303130GNPTABc.1045G>A (p.Val349Ile)
c.964G>A (p.Val322Ile)
c.829G>A (p.Val277Ile)
c.-183G>A (n.-183G>A)
 dbSNP
12g.101770475A=CA2058957995GNPTABc.1044T= (p.Ile348=)
c.963T= (p.Ile321=)
c.828T= (p.Ile276=)
c.-184T= (n.-184T=)
12g.101770475A>CCA386303131GNPTABc.1044T>G (p.Ile348Met)
c.963T>G (p.Ile321Met)
c.828T>G (p.Ile276Met)
c.-184T>G (n.-184T>G)
 dbSNP
12g.101770475A>GCA481577289GNPTABc.1044T>C (p.Ile348=)
c.963T>C (p.Ile321=)
c.828T>C (p.Ile276=)
c.-184T>C (n.-184T>C)
 gnomAD v4
12g.101770475A>TCA481577288GNPTABc.1044T>A (p.Ile348=)
c.963T>A (p.Ile321=)
c.828T>A (p.Ile276=)
c.-184T>A (n.-184T>A)
12g.101770477_101770480delCA2620452059GNPTABc.1041_1044del (p.Phe347LeufsTer11)
c.960_963del (p.Phe320LeufsTer11)
c.825_828del (p.Phe275LeufsTer11)
c.-187_-184del (n.-187_-184del)
 gnomAD v4
12g.101770476A=CA2058957996GNPTABc.1043T= (p.Ile348=)
c.962T= (p.Ile321=)
c.827T= (p.Ile276=)
c.-185T= (n.-185T=)
12g.101770476A>CCA386303135GNPTABc.1043T>G (p.Ile348Ser)
c.962T>G (p.Ile321Ser)
c.827T>G (p.Ile276Ser)
c.-185T>G (n.-185T>G)
12g.101770476A>GCA6746727GNPTABc.1043T>C (p.Ile348Thr)
c.962T>C (p.Ile321Thr)
c.827T>C (p.Ile276Thr)
c.-185T>C (n.-185T>C)
 dbSNP ExAC gnomAD v2
12g.101770476A>TCA386303133GNPTABc.1043T>A (p.Ile348Asn)
c.962T>A (p.Ile321Asn)
c.827T>A (p.Ile276Asn)
c.-185T>A (n.-185T>A)
12g.101770477T>ACA386303136GNPTABc.1042A>T (p.Ile348Phe)
c.961A>T (p.Ile321Phe)
c.826A>T (p.Ile276Phe)
c.-186A>T (n.-186A>T)
12g.101770477T>CCA386303138GNPTABc.1042A>G (p.Ile348Val)
c.961A>G (p.Ile321Val)
c.826A>G (p.Ile276Val)
c.-186A>G (n.-186A>G)
 dbSNP gnomAD v4
12g.101770477T>GCA343333GNPTABc.1042A>C (p.Ile348Leu)
c.961A>C (p.Ile321Leu)
c.826A>C (p.Ile276Leu)
c.-186A>C (n.-186A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770477T=CA2058957997GNPTABc.1042A= (p.Ile348=)
c.961A= (p.Ile321=)
c.826A= (p.Ile276=)
c.-186A= (n.-186A=)
12g.101770478G>ACA481577290GNPTABc.1041C>T (p.Phe347=)
c.960C>T (p.Phe320=)
c.825C>T (p.Phe275=)
c.-187C>T (n.-187C>T)
12g.101770478G>CCA386303140GNPTABc.1041C>G (p.Phe347Leu)
c.960C>G (p.Phe320Leu)
c.825C>G (p.Phe275Leu)
c.-187C>G (n.-187C>G)
12g.101770478G>TCA386303141GNPTABc.1041C>A (p.Phe347Leu)
c.960C>A (p.Phe320Leu)
c.825C>A (p.Phe275Leu)
c.-187C>A (n.-187C>A)
12g.101770479A>CCA386303143GNPTABc.1040T>G (p.Phe347Cys)
c.959T>G (p.Phe320Cys)
c.824T>G (p.Phe275Cys)
c.-188T>G (n.-188T>G)
12g.101770479A>GCA386303144GNPTABc.1040T>C (p.Phe347Ser)
c.959T>C (p.Phe320Ser)
c.824T>C (p.Phe275Ser)
c.-188T>C (n.-188T>C)
12g.101770479A>TCA386303146GNPTABc.1040T>A (p.Phe347Tyr)
c.959T>A (p.Phe320Tyr)
c.824T>A (p.Phe275Tyr)
c.-188T>A (n.-188T>A)
12g.101770480A>CCA386303147GNPTABc.1039T>G (p.Phe347Val)
c.958T>G (p.Phe320Val)
c.823T>G (p.Phe275Val)
c.-189T>G (n.-189T>G)
12g.101770480A>GCA386303149GNPTABc.1039T>C (p.Phe347Leu)
c.958T>C (p.Phe320Leu)
c.823T>C (p.Phe275Leu)
c.-189T>C (n.-189T>C)
12g.101770480A>TCA386303151GNPTABc.1039T>A (p.Phe347Ile)
c.958T>A (p.Phe320Ile)
c.823T>A (p.Phe275Ile)
c.-189T>A (n.-189T>A)
12g.101770481A=CA2058957999GNPTABc.1038T= (p.Ile346=)
c.957T= (p.Ile319=)
c.822T= (p.Ile274=)
c.-190T= (n.-190T=)
12g.101770481A>CCA386303152GNPTABc.1038T>G (p.Ile346Met)
c.957T>G (p.Ile319Met)
c.822T>G (p.Ile274Met)
c.-190T>G (n.-190T>G)
12g.101770481A>GCA481320728GNPTABc.1038T>C (p.Ile346=)
c.957T>C (p.Ile319=)
c.822T>C (p.Ile274=)
c.-190T>C (n.-190T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770481A>TCA481320729GNPTABc.1038T>A (p.Ile346=)
c.957T>A (p.Ile319=)
c.822T>A (p.Ile274=)
c.-190T>A (n.-190T>A)
12g.101770481_101770483delinsAATCA2058957998GNPTABc.1036_1038delinsATT (p.Ile346=)
c.955_957delinsATT (p.Ile319=)
c.820_822delinsATT (p.Ile274=)
c.-192_-190delinsATT (n.-192_-190delinsATT)
12g.101770482A>CCA386303158GNPTABc.1037T>G (p.Ile346Ser)
c.956T>G (p.Ile319Ser)
c.821T>G (p.Ile274Ser)
c.-191T>G (n.-191T>G)
12g.101770482A>GCA386303154GNPTABc.1037T>C (p.Ile346Thr)
c.956T>C (p.Ile319Thr)
c.821T>C (p.Ile274Thr)
c.-191T>C (n.-191T>C)
 COSMIC COSMIC
12g.101770482A>TCA386303156GNPTABc.1037T>A (p.Ile346Asn)
c.956T>A (p.Ile319Asn)
c.821T>A (p.Ile274Asn)
c.-191T>A (n.-191T>A)
12g.101770484_101770485delCA223749GNPTABc.1036_1037del (p.Ile346PhefsTer15)
c.955_956del (p.Ile319PhefsTer15)
c.820_821del (p.Ile274PhefsTer15)
c.-192_-191del (n.-192_-191del)
 ClinVar dbSNP
12g.101770483T>ACA386303159GNPTABc.1036A>T (p.Ile346Phe)
c.955A>T (p.Ile319Phe)
c.820A>T (p.Ile274Phe)
c.-192A>T (n.-192A>T)
12g.101770483T>CCA386303161GNPTABc.1036A>G (p.Ile346Val)
c.955A>G (p.Ile319Val)
c.820A>G (p.Ile274Val)
c.-192A>G (n.-192A>G)
12g.101770483T>GCA386303163GNPTABc.1036A>C (p.Ile346Leu)
c.955A>C (p.Ile319Leu)
c.820A>C (p.Ile274Leu)
c.-192A>C (n.-192A>C)
12g.101770484A>CCA386303165GNPTABc.1035T>G (p.Asn345Lys)
c.954T>G (p.Asn318Lys)
c.819T>G (p.Asn273Lys)
c.-193T>G (n.-193T>G)
12g.101770484A>GCA481320731GNPTABc.1035T>C (p.Asn345=)
c.954T>C (p.Asn318=)
c.819T>C (p.Asn273=)
c.-193T>C (n.-193T>C)
12g.101770484A>TCA386303166GNPTABc.1035T>A (p.Asn345Lys)
c.954T>A (p.Asn318Lys)
c.819T>A (p.Asn273Lys)
c.-193T>A (n.-193T>A)
12g.101770485T>ACA386303168GNPTABc.1034A>T (p.Asn345Ile)
c.953A>T (p.Asn318Ile)
c.818A>T (p.Asn273Ile)
c.-194A>T (n.-194A>T)
12g.101770485T>CCA6746728GNPTABc.1034A>G (p.Asn345Ser)
c.953A>G (p.Asn318Ser)
c.818A>G (p.Asn273Ser)
c.-194A>G (n.-194A>G)
 dbSNP ExAC gnomAD v2
12g.101770485T>GCA386303169GNPTABc.1034A>C (p.Asn345Thr)
c.953A>C (p.Asn318Thr)
c.818A>C (p.Asn273Thr)
c.-194A>C (n.-194A>C)
12g.101770485T=CA2058958000GNPTABc.1034A= (p.Asn345=)
c.953A= (p.Asn318=)
c.818A= (p.Asn273=)
c.-194A= (n.-194A=)
12g.101770486T>ACA386303171GNPTABc.1033A>T (p.Asn345Tyr)
c.952A>T (p.Asn318Tyr)
c.817A>T (p.Asn273Tyr)
c.-195A>T (n.-195A>T)
12g.101770486T>CCA386303172GNPTABc.1033A>G (p.Asn345Asp)
c.952A>G (p.Asn318Asp)
c.817A>G (p.Asn273Asp)
c.-195A>G (n.-195A>G)
12g.101770486T>GCA386303173GNPTABc.1033A>C (p.Asn345His)
c.952A>C (p.Asn318His)
c.817A>C (p.Asn273His)
c.-195A>C (n.-195A>C)
12g.101770486_101770487delCA912973305GNPTABc.1032_1033del (p.Asn345TyrfsTer16)
c.951_952del (p.Asn318TyrfsTer16)
c.816_817del (p.Asn273TyrfsTer16)
c.-196_-195del (n.-196_-195del)
12g.101770486_101770487delinsTCCA2058958001GNPTABc.1032_1033delinsGA (p.Arg344=)
c.951_952delinsGA (p.Arg317=)
c.816_817delinsGA (p.Arg272=)
c.-196_-195delinsGA (n.-196_-195delinsGA)
12g.101770487C>ACA481320733GNPTABc.1032G>T (p.Arg344=)
c.951G>T (p.Arg317=)
c.816G>T (p.Arg272=)
c.-196G>T (n.-196G>T)
12g.101770487C>GCA481320734GNPTABc.1032G>C (p.Arg344=)
c.951G>C (p.Arg317=)
c.816G>C (p.Arg272=)
c.-196G>C (n.-196G>C)
12g.101770487C>TCA481320735GNPTABc.1032G>A (p.Arg344=)
c.951G>A (p.Arg317=)
c.816G>A (p.Arg272=)
c.-196G>A (n.-196G>A)
12g.101770488delCA658822545GNPTABc.1032del (p.Asn345IlefsTer14)
c.951del (p.Asn318IlefsTer14)
c.816del (p.Asn273IlefsTer14)
c.-196del (n.-196del)
 ClinVar dbSNP
12g.101770488C>ACA386303176GNPTABc.1031G>T (p.Arg344Leu)
c.950G>T (p.Arg317Leu)
c.815G>T (p.Arg272Leu)
c.-197G>T (n.-197G>T)
 gnomAD v4
12g.101770488C=CA2058958002GNPTABc.1031G= (p.Arg344=)
c.950G= (p.Arg317=)
c.815G= (p.Arg272=)
c.-197G= (n.-197G=)
12g.101770488C>GCA386303178GNPTABc.1031G>C (p.Arg344Pro)
c.950G>C (p.Arg317Pro)
c.815G>C (p.Arg272Pro)
c.-197G>C (n.-197G>C)
12g.101770488C>TCA386303174GNPTABc.1031G>A (p.Arg344Gln)
c.950G>A (p.Arg317Gln)
c.815G>A (p.Arg272Gln)
c.-197G>A (n.-197G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101770489G>ACA386303181GNPTABc.1030C>T (p.Arg344Trp)
c.949C>T (p.Arg317Trp)
c.814C>T (p.Arg272Trp)
c.-198C>T (n.-198C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770489G>CCA386303179GNPTABc.1030C>G (p.Arg344Gly)
c.949C>G (p.Arg317Gly)
c.814C>G (p.Arg272Gly)
c.-198C>G (n.-198C>G)
12g.101770489G=CA2058958003GNPTABc.1030C= (p.Arg344=)
c.949C= (p.Arg317=)
c.814C= (p.Arg272=)
c.-198C= (n.-198C=)
12g.101770489G>TCA481320736GNPTABc.1030C>A (p.Arg344=)
c.949C>A (p.Arg317=)
c.814C>A (p.Arg272=)
c.-198C>A (n.-198C>A)
12g.101770490A>CCA481320737GNPTABc.1029T>G (p.Val343=)
c.948T>G (p.Val316=)
c.813T>G (p.Val271=)
c.-199T>G (n.-199T>G)
 gnomAD v4
12g.101770490A>GCA481320738GNPTABc.1029T>C (p.Val343=)
c.948T>C (p.Val316=)
c.813T>C (p.Val271=)
c.-199T>C (n.-199T>C)
12g.101770490A>TCA481320739GNPTABc.1029T>A (p.Val343=)
c.948T>A (p.Val316=)
c.813T>A (p.Val271=)
c.-199T>A (n.-199T>A)
12g.101770491A>CCA386303184GNPTABc.1028T>G (p.Val343Gly)
c.947T>G (p.Val316Gly)
c.812T>G (p.Val271Gly)
c.-200T>G (n.-200T>G)
12g.101770491A>GCA386303182GNPTABc.1028T>C (p.Val343Ala)
c.947T>C (p.Val316Ala)
c.812T>C (p.Val271Ala)
c.-200T>C (n.-200T>C)
12g.101770491A>TCA386303183GNPTABc.1028T>A (p.Val343Asp)
c.947T>A (p.Val316Asp)
c.812T>A (p.Val271Asp)
c.-200T>A (n.-200T>A)
12g.101770492C>ACA6746729GNPTABc.1027G>T (p.Val343Phe)
c.946G>T (p.Val316Phe)
c.811G>T (p.Val271Phe)
c.-201G>T (n.-201G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770492C=CA2058958004GNPTABc.1027G= (p.Val343=)
c.946G= (p.Val316=)
c.811G= (p.Val271=)
c.-201G= (n.-201G=)
12g.101770492C>GCA386303185GNPTABc.1027G>C (p.Val343Leu)
c.946G>C (p.Val316Leu)
c.811G>C (p.Val271Leu)
c.-201G>C (n.-201G>C)
12g.101770492C>TCA6746730GNPTABc.1027G>A (p.Val343Ile)
c.946G>A (p.Val316Ile)
c.811G>A (p.Val271Ile)
c.-201G>A (n.-201G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770493C>ACA386303187GNPTABc.1026G>T (p.Trp342Cys)
c.945G>T (p.Trp315Cys)
c.810G>T (p.Trp270Cys)
c.-202G>T (n.-202G>T)
 gnomAD v4
12g.101770493C=CA2058958005GNPTABc.1026G= (p.Trp342=)
c.945G= (p.Trp315=)
c.810G= (p.Trp270=)
c.-202G= (n.-202G=)
12g.101770493C>GCA386303189GNPTABc.1026G>C (p.Trp342Cys)
c.945G>C (p.Trp315Cys)
c.810G>C (p.Trp270Cys)
c.-202G>C (n.-202G>C)
12g.101770493C>TCA386303190GNPTABc.1026G>A (p.Trp342Ter)
c.945G>A (p.Trp315Ter)
c.810G>A (p.Trp270Ter)
c.-202G>A (n.-202G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.101770494C>ACA386303191GNPTABc.1025G>T (p.Trp342Leu)
c.944G>T (p.Trp315Leu)
c.809G>T (p.Trp270Leu)
c.-203G>T (n.-203G>T)
12g.101770494C>GCA386303193GNPTABc.1025G>C (p.Trp342Ser)
c.944G>C (p.Trp315Ser)
c.809G>C (p.Trp270Ser)
c.-203G>C (n.-203G>C)
12g.101770494C>TCA386303194GNPTABc.1025G>A (p.Trp342Ter)
c.944G>A (p.Trp315Ter)
c.809G>A (p.Trp270Ter)
c.-203G>A (n.-203G>A)
12g.101770495A=CA2058958006GNPTABc.1024T= (p.Trp342=)
c.943T= (p.Trp315=)
c.808T= (p.Trp270=)
c.-204T= (n.-204T=)
12g.101770495A>CCA386303200GNPTABc.1024T>G (p.Trp342Gly)
c.943T>G (p.Trp315Gly)
c.808T>G (p.Trp270Gly)
c.-204T>G (n.-204T>G)
12g.101770495A>GCA386303198GNPTABc.1024T>C (p.Trp342Arg)
c.943T>C (p.Trp315Arg)
c.808T>C (p.Trp270Arg)
c.-204T>C (n.-204T>C)
 dbSNP
12g.101770495A>TCA386303196GNPTABc.1024T>A (p.Trp342Arg)
c.943T>A (p.Trp315Arg)
c.808T>A (p.Trp270Arg)
c.-204T>A (n.-204T>A)
12g.101770495_101770498delinsATGGCA2058958007GNPTABc.1021_1024delinsCCAT (p.Pro341=)
c.940_943delinsCCAT (p.Pro314=)
c.805_808delinsCCAT (p.Pro269=)
c.-207_-204delinsCCAT (n.-207_-204delinsCCAT)
12g.101770496T>ACA481320740GNPTABc.1023A>T (p.Pro341=)
c.942A>T (p.Pro314=)
c.807A>T (p.Pro269=)
c.-205A>T (n.-205A>T)
12g.101770496T>CCA6746731GNPTABc.1023A>G (p.Pro341=)
c.942A>G (p.Pro314=)
c.807A>G (p.Pro269=)
c.-205A>G (n.-205A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770496T>GCA481320742GNPTABc.1023A>C (p.Pro341=)
c.942A>C (p.Pro314=)
c.807A>C (p.Pro269=)
c.-205A>C (n.-205A>C)
 ClinVar
12g.101770496T=CA2058958008GNPTABc.1023A= (p.Pro341=)
c.942A= (p.Pro314=)
c.807A= (p.Pro269=)
c.-205A= (n.-205A=)
12g.101770496dupCA682731465GNPTABc.1023dup (p.Trp342MetfsTer20)
c.942dup (p.Trp315MetfsTer20)
c.807dup (p.Trp270MetfsTer20)
c.-205dup (n.-205dup)
 dbSNP gnomAD v3 gnomAD v4
12g.101770498_101770500delCA16609433GNPTABc.1021_1023del (p.Pro341del)
c.940_942del (p.Pro314del)
c.805_807del (p.Pro269del)
c.-207_-205del (n.-207_-205del)
 ClinVar dbSNP
12g.101770497G>ACA386303203GNPTABc.1022C>T (p.Pro341Leu)
c.941C>T (p.Pro314Leu)
c.806C>T (p.Pro269Leu)
c.-206C>T (n.-206C>T)
12g.101770497G>CCA386303205GNPTABc.1022C>G (p.Pro341Arg)
c.941C>G (p.Pro314Arg)
c.806C>G (p.Pro269Arg)
c.-206C>G (n.-206C>G)
12g.101770497G>TCA386303206GNPTABc.1022C>A (p.Pro341Gln)
c.941C>A (p.Pro314Gln)
c.806C>A (p.Pro269Gln)
c.-206C>A (n.-206C>A)
12g.101770498dupCA912973306GNPTABc.1022dup (p.Trp342MetfsTer20)
c.941dup (p.Trp315MetfsTer20)
c.806dup (p.Trp270MetfsTer20)
c.-206dup (n.-206dup)
12g.101770498delCA2695217212GNPTABc.1022del (p.Pro341HisfsTer18)
c.941del (p.Pro314HisfsTer18)
c.806del (p.Pro269HisfsTer18)
c.-206del (n.-206del)
12g.101770497_101770498insTGCACA242462565GNPTABc.1021_1022insTGCA (p.Pro341LeufsTer22)
c.940_941insTGCA (p.Pro314LeufsTer22)
c.805_806insTGCA (p.Pro269LeufsTer22)
c.-207_-206insTGCA (n.-207_-206insTGCA)
12g.101770498G>ACA6746733GNPTABc.1021C>T (p.Pro341Ser)
c.940C>T (p.Pro314Ser)
c.805C>T (p.Pro269Ser)
c.-207C>T (n.-207C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770498G>CCA386303210GNPTABc.1021C>G (p.Pro341Ala)
c.940C>G (p.Pro314Ala)
c.805C>G (p.Pro269Ala)
c.-207C>G (n.-207C>G)
12g.101770498G=CA2058958009GNPTABc.1021C= (p.Pro341=)
c.940C= (p.Pro314=)
c.805C= (p.Pro269=)
c.-207C= (n.-207C=)
12g.101770498G>TCA386303211GNPTABc.1021C>A (p.Pro341Thr)
c.940C>A (p.Pro314Thr)
c.805C>A (p.Pro269Thr)
c.-207C>A (n.-207C>A)
 COSMIC COSMIC
12g.101770499T>ACA481320745GNPTABc.1020A>T (p.Ala340=)
c.939A>T (p.Ala313=)
c.804A>T (p.Ala268=)
c.-208A>T (n.-208A>T)
12g.101770499T>CCA481320743GNPTABc.1020A>G (p.Ala340=)
c.939A>G (p.Ala313=)
c.804A>G (p.Ala268=)
c.-208A>G (n.-208A>G)
12g.101770499T>GCA481320744GNPTABc.1020A>C (p.Ala340=)
c.939A>C (p.Ala313=)
c.804A>C (p.Ala268=)
c.-208A>C (n.-208A>C)
12g.101770502_101770505dupCA6746732GNPTABc.1017_1020dup (p.Pro341CysfsTer22)
c.936_939dup (p.Pro314CysfsTer22)
c.801_804dup (p.Pro269CysfsTer22)
c.-211_-208dup (n.-211_-208dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770500G>ACA386303212GNPTABc.1019C>T (p.Ala340Val)
c.938C>T (p.Ala313Val)
c.803C>T (p.Ala268Val)
c.-209C>T (n.-209C>T)
12g.101770500G>CCA386303213GNPTABc.1019C>G (p.Ala340Gly)
c.938C>G (p.Ala313Gly)
c.803C>G (p.Ala268Gly)
c.-209C>G (n.-209C>G)
12g.101770500G>TCA386303214GNPTABc.1019C>A (p.Ala340Glu)
c.938C>A (p.Ala313Glu)
c.803C>A (p.Ala268Glu)
c.-209C>A (n.-209C>A)

Number of alleles fetched