Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770411G>A | CA386302930 | GNPTAB | c.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 |
12 | g.101770411G>C | CA386302928 | GNPTAB | c.1108C>G (p.His370Asp) c.1027C>G (p.His343Asp) c.892C>G (p.His298Asp) c.-120C>G (n.-120C>G) | |
12 | g.101770411G= | CA2058957972 | GNPTAB | c.1108C= (p.His370=) c.1027C= (p.His343=) c.892C= (p.His298=) c.-120C= (n.-120C=) | |
12 | g.101770411G>T | CA386302927 | GNPTAB | c.1108C>A (p.His370Asn) c.1027C>A (p.His343Asn) c.892C>A (p.His298Asn) c.-120C>A (n.-120C>A) | |
12 | g.101770412T>A | CA481577242 | GNPTAB | c.1107A>T (p.Thr369=) c.1026A>T (p.Thr342=) c.891A>T (p.Thr297=) c.-121A>T (n.-121A>T) | |
12 | g.101770412T>C | CA481577243 | GNPTAB | c.1107A>G (p.Thr369=) c.1026A>G (p.Thr342=) c.891A>G (p.Thr297=) c.-121A>G (n.-121A>G) | |
12 | g.101770412T>G | CA481577244 | GNPTAB | c.1107A>C (p.Thr369=) c.1026A>C (p.Thr342=) c.891A>C (p.Thr297=) c.-121A>C (n.-121A>C) | |
12 | g.101770413G>A | CA386302931 | GNPTAB | c.1106C>T (p.Thr369Ile) c.1025C>T (p.Thr342Ile) c.890C>T (p.Thr297Ile) c.-122C>T (n.-122C>T) | gnomAD v4 |
12 | g.101770413G>C | CA386302933 | GNPTAB | c.1106C>G (p.Thr369Arg) c.1025C>G (p.Thr342Arg) c.890C>G (p.Thr297Arg) c.-122C>G (n.-122C>G) | |
12 | g.101770413G>T | CA386302934 | GNPTAB | c.1106C>A (p.Thr369Lys) c.1025C>A (p.Thr342Lys) c.890C>A (p.Thr297Lys) c.-122C>A (n.-122C>A) | gnomAD v4 |
12 | g.101770414T>A | CA386302936 | GNPTAB | c.1105A>T (p.Thr369Ser) c.1024A>T (p.Thr342Ser) c.889A>T (p.Thr297Ser) c.-123A>T (n.-123A>T) | |
12 | g.101770414T>C | CA6746717 | GNPTAB | c.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 |
12 | g.101770414T>G | CA386302938 | GNPTAB | c.1105A>C (p.Thr369Pro) c.1024A>C (p.Thr342Pro) c.889A>C (p.Thr297Pro) c.-123A>C (n.-123A>C) | |
12 | g.101770414T= | CA2058957973 | GNPTAB | c.1105A= (p.Thr369=) c.1024A= (p.Thr342=) c.889A= (p.Thr297=) c.-123A= (n.-123A=) | |
12 | g.101770415T>A | CA6746718 | GNPTAB | c.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 |
12 | g.101770415T>C | CA481577245 | GNPTAB | c.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 |
12 | g.101770415T>G | CA481577246 | GNPTAB | c.1104A>C (p.Val368=) c.1023A>C (p.Val341=) c.888A>C (p.Val296=) c.-124A>C (n.-124A>C) | |
12 | g.101770415T= | CA2058957974 | GNPTAB | c.1104A= (p.Val368=) c.1023A= (p.Val341=) c.888A= (p.Val296=) c.-124A= (n.-124A=) | |
12 | g.101770416A>C | CA386302940 | GNPTAB | c.1103T>G (p.Val368Gly) c.1022T>G (p.Val341Gly) c.887T>G (p.Val296Gly) c.-125T>G (n.-125T>G) | |
12 | g.101770416A>G | CA386302942 | GNPTAB | c.1103T>C (p.Val368Ala) c.1022T>C (p.Val341Ala) c.887T>C (p.Val296Ala) c.-125T>C (n.-125T>C) | |
12 | g.101770416A>T | CA386302943 | GNPTAB | c.1103T>A (p.Val368Glu) c.1022T>A (p.Val341Glu) c.887T>A (p.Val296Glu) c.-125T>A (n.-125T>A) | |
12 | g.101770417C>A | CA386302945 | GNPTAB | c.1102G>T (p.Val368Leu) c.1021G>T (p.Val341Leu) c.886G>T (p.Val296Leu) c.-126G>T (n.-126G>T) | |
12 | g.101770417C>G | CA386302946 | GNPTAB | c.1102G>C (p.Val368Leu) c.1021G>C (p.Val341Leu) c.886G>C (p.Val296Leu) c.-126G>C (n.-126G>C) | |
12 | g.101770417C>T | CA386302947 | GNPTAB | c.1102G>A (p.Val368Ile) c.1021G>A (p.Val341Ile) c.886G>A (p.Val296Ile) c.-126G>A (n.-126G>A) | gnomAD v4 |
12 | g.101770418T>A | CA481577247 | GNPTAB | c.1101A>T (p.Ile367=) c.1020A>T (p.Ile340=) c.885A>T (p.Ile295=) c.-127A>T (n.-127A>T) | |
12 | g.101770418T>C | CA386302948 | GNPTAB | c.1101A>G (p.Ile367Met) c.1020A>G (p.Ile340Met) c.885A>G (p.Ile295Met) c.-127A>G (n.-127A>G) | gnomAD v4 |
12 | g.101770418T>G | CA481577248 | GNPTAB | c.1101A>C (p.Ile367=) c.1020A>C (p.Ile340=) c.885A>C (p.Ile295=) c.-127A>C (n.-127A>C) | |
12 | g.101770419A= | CA2058957975 | GNPTAB | c.1100T= (p.Ile367=) c.1019T= (p.Ile340=) c.884T= (p.Ile295=) c.-128T= (n.-128T=) | |
12 | g.101770419A>C | CA386302951 | GNPTAB | c.1100T>G (p.Ile367Arg) c.1019T>G (p.Ile340Arg) c.884T>G (p.Ile295Arg) c.-128T>G (n.-128T>G) | |
12 | g.101770419A>G | CA386302952 | GNPTAB | c.1100T>C (p.Ile367Thr) c.1019T>C (p.Ile340Thr) c.884T>C (p.Ile295Thr) c.-128T>C (n.-128T>C) | dbSNP |
12 | g.101770419A>T | CA386302949 | GNPTAB | c.1100T>A (p.Ile367Lys) c.1019T>A (p.Ile340Lys) c.884T>A (p.Ile295Lys) c.-128T>A (n.-128T>A) | |
12 | g.101770420T>A | CA386302954 | GNPTAB | c.1099A>T (p.Ile367Leu) c.1018A>T (p.Ile340Leu) c.883A>T (p.Ile295Leu) c.-129A>T (n.-129A>T) | |
12 | g.101770420T>C | CA386302955 | GNPTAB | c.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 |
12 | g.101770420T>G | CA386302956 | GNPTAB | c.1099A>C (p.Ile367Leu) c.1018A>C (p.Ile340Leu) c.883A>C (p.Ile295Leu) c.-129A>C (n.-129A>C) | |
12 | g.101770420T= | CA2058957976 | GNPTAB | c.1099A= (p.Ile367=) c.1018A= (p.Ile340=) c.883A= (p.Ile295=) c.-129A= (n.-129A=) | |
12 | g.101770421T>A | CA481577251 | GNPTAB | c.1098A>T (p.Thr366=) c.1017A>T (p.Thr339=) c.882A>T (p.Thr294=) c.-130A>T (n.-130A>T) | |
12 | g.101770421T>C | CA481577250 | GNPTAB | c.1098A>G (p.Thr366=) c.1017A>G (p.Thr339=) c.882A>G (p.Thr294=) c.-130A>G (n.-130A>G) | |
12 | g.101770421T>G | CA481577249 | GNPTAB | c.1098A>C (p.Thr366=) c.1017A>C (p.Thr339=) c.882A>C (p.Thr294=) c.-130A>C (n.-130A>C) | |
12 | g.101770422G>A | CA386302958 | GNPTAB | c.1097C>T (p.Thr366Ile) c.1016C>T (p.Thr339Ile) c.881C>T (p.Thr294Ile) c.-131C>T (n.-131C>T) | gnomAD v4 |
12 | g.101770422G>C | CA386302960 | GNPTAB | c.1097C>G (p.Thr366Arg) c.1016C>G (p.Thr339Arg) c.881C>G (p.Thr294Arg) c.-131C>G (n.-131C>G) | |
12 | g.101770422G>T | CA386302961 | GNPTAB | c.1097C>A (p.Thr366Lys) c.1016C>A (p.Thr339Lys) c.881C>A (p.Thr294Lys) c.-131C>A (n.-131C>A) | |
12 | g.101770423T>A | CA386302963 | GNPTAB | c.1096A>T (p.Thr366Ser) c.1015A>T (p.Thr339Ser) c.880A>T (p.Thr294Ser) c.-132A>T (n.-132A>T) | |
12 | g.101770423T>C | CA386302964 | GNPTAB | c.1096A>G (p.Thr366Ala) c.1015A>G (p.Thr339Ala) c.880A>G (p.Thr294Ala) c.-132A>G (n.-132A>G) | |
12 | g.101770423T>G | CA386302966 | GNPTAB | c.1096A>C (p.Thr366Pro) c.1015A>C (p.Thr339Pro) c.880A>C (p.Thr294Pro) c.-132A>C (n.-132A>C) | gnomAD v4 |
12 | g.101770424C>A | CA481577252 | GNPTAB | c.1095G>T (p.Val365=) c.1014G>T (p.Val338=) c.879G>T (p.Val293=) c.-133G>T (n.-133G>T) | |
12 | g.101770424C>G | CA481577253 | GNPTAB | c.1095G>C (p.Val365=) c.1014G>C (p.Val338=) c.879G>C (p.Val293=) c.-133G>C (n.-133G>C) | |
12 | g.101770424C>T | CA481577254 | GNPTAB | c.1095G>A (p.Val365=) c.1014G>A (p.Val338=) c.879G>A (p.Val293=) c.-133G>A (n.-133G>A) | |
12 | g.101770425A= | CA2058957977 | GNPTAB | c.1094T= (p.Val365=) c.1013T= (p.Val338=) c.878T= (p.Val293=) c.-134T= (n.-134T=) | |
12 | g.101770425A>C | CA386302968 | GNPTAB | c.1094T>G (p.Val365Gly) c.1013T>G (p.Val338Gly) c.878T>G (p.Val293Gly) c.-134T>G (n.-134T>G) | |
12 | g.101770425A>G | CA386302969 | GNPTAB | c.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 |
12 | g.101770425A>T | CA386302971 | GNPTAB | c.1094T>A (p.Val365Glu) c.1013T>A (p.Val338Glu) c.878T>A (p.Val293Glu) c.-134T>A (n.-134T>A) | |
12 | g.101770426C>A | CA386302973 | GNPTAB | c.1093G>T (p.Val365Leu) c.1012G>T (p.Val338Leu) c.877G>T (p.Val293Leu) c.-135G>T (n.-135G>T) | |
12 | g.101770426C= | CA2058957978 | GNPTAB | c.1093G= (p.Val365=) c.1012G= (p.Val338=) c.877G= (p.Val293=) c.-135G= (n.-135G=) | |
12 | g.101770426C>G | CA242462473 | GNPTAB | c.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 |
12 | g.101770426C>T | CA242462475 | GNPTAB | c.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 |
12 | g.101770427T>A | CA481577255 | GNPTAB | c.1092A>T (p.Arg364=) c.1011A>T (p.Arg337=) c.876A>T (p.Arg292=) c.-136A>T (n.-136A>T) | |
12 | g.101770427T>C | CA481577256 | GNPTAB | c.1092A>G (p.Arg364=) c.1011A>G (p.Arg337=) c.876A>G (p.Arg292=) c.-136A>G (n.-136A>G) | |
12 | g.101770427T>G | CA481577257 | GNPTAB | c.1092A>C (p.Arg364=) c.1011A>C (p.Arg337=) c.876A>C (p.Arg292=) c.-136A>C (n.-136A>C) | |
12 | g.101770428C>A | CA386302975 | GNPTAB | c.1091G>T (p.Arg364Leu) c.1010G>T (p.Arg337Leu) c.875G>T (p.Arg292Leu) c.-137G>T (n.-137G>T) | |
12 | g.101770428C= | CA2058957979 | GNPTAB | c.1091G= (p.Arg364=) c.1010G= (p.Arg337=) c.875G= (p.Arg292=) c.-137G= (n.-137G=) | |
12 | g.101770428C>G | CA386302976 | GNPTAB | c.1091G>C (p.Arg364Pro) c.1010G>C (p.Arg337Pro) c.875G>C (p.Arg292Pro) c.-137G>C (n.-137G>C) | ClinVar dbSNP |
12 | g.101770428C>T | CA6746719 | GNPTAB | c.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 |
12 | g.101770429G>A | CA343335 | GNPTAB | c.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 |
12 | g.101770429G>C | CA386302978 | GNPTAB | c.1090C>G (p.Arg364Gly) c.1009C>G (p.Arg337Gly) c.874C>G (p.Arg292Gly) c.-138C>G (n.-138C>G) | gnomAD v4 |
12 | g.101770429G= | CA2058957980 | GNPTAB | c.1090C= (p.Arg364=) c.1009C= (p.Arg337=) c.874C= (p.Arg292=) c.-138C= (n.-138C=) | |
12 | g.101770429G>T | CA481577258 | GNPTAB | c.1090C>A (p.Arg364=) c.1009C>A (p.Arg337=) c.874C>A (p.Arg292=) c.-138C>A (n.-138C>A) | |
12 | g.101770430A>C | CA481577259 | GNPTAB | c.1089T>G (p.Pro363=) c.1008T>G (p.Pro336=) c.873T>G (p.Pro291=) c.-139T>G (n.-139T>G) | |
12 | g.101770430A>G | CA481577260 | GNPTAB | c.1089T>C (p.Pro363=) c.1008T>C (p.Pro336=) c.873T>C (p.Pro291=) c.-139T>C (n.-139T>C) | |
12 | g.101770430A>T | CA481577261 | GNPTAB | c.1089T>A (p.Pro363=) c.1008T>A (p.Pro336=) c.873T>A (p.Pro291=) c.-139T>A (n.-139T>A) | |
12 | g.101770431G>A | CA386302980 | GNPTAB | c.1088C>T (p.Pro363Leu) c.1007C>T (p.Pro336Leu) c.872C>T (p.Pro291Leu) c.-140C>T (n.-140C>T) | |
12 | g.101770431G>C | CA386302982 | GNPTAB | c.1088C>G (p.Pro363Arg) c.1007C>G (p.Pro336Arg) c.872C>G (p.Pro291Arg) c.-140C>G (n.-140C>G) | |
12 | g.101770431G>T | CA386302983 | GNPTAB | c.1088C>A (p.Pro363His) c.1007C>A (p.Pro336His) c.872C>A (p.Pro291His) c.-140C>A (n.-140C>A) | |
12 | g.101770432G>A | CA386302985 | GNPTAB | c.1087C>T (p.Pro363Ser) c.1006C>T (p.Pro336Ser) c.871C>T (p.Pro291Ser) c.-141C>T (n.-141C>T) | |
12 | g.101770432G>C | CA386302986 | GNPTAB | c.1087C>G (p.Pro363Ala) c.1006C>G (p.Pro336Ala) c.871C>G (p.Pro291Ala) c.-141C>G (n.-141C>G) | |
12 | g.101770432G= | CA2058957981 | GNPTAB | c.1087C= (p.Pro363=) c.1006C= (p.Pro336=) c.871C= (p.Pro291=) c.-141C= (n.-141C=) | |
12 | g.101770432G>T | CA386302988 | GNPTAB | c.1087C>A (p.Pro363Thr) c.1006C>A (p.Pro336Thr) c.871C>A (p.Pro291Thr) c.-141C>A (n.-141C>A) | dbSNP |
12 | g.101770433A= | CA2058957982 | GNPTAB | c.1086T= (p.Asn362=) c.1005T= (p.Asn335=) c.870T= (p.Asn290=) c.-142T= (n.-142T=) | |
12 | g.101770433A>C | CA386302989 | GNPTAB | c.1086T>G (p.Asn362Lys) c.1005T>G (p.Asn335Lys) c.870T>G (p.Asn290Lys) c.-142T>G (n.-142T>G) | |
12 | g.101770433A>G | CA242462485 | GNPTAB | c.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 |
12 | g.101770433A>T | CA386302991 | GNPTAB | c.1086T>A (p.Asn362Lys) c.1005T>A (p.Asn335Lys) c.870T>A (p.Asn290Lys) c.-142T>A (n.-142T>A) | |
12 | g.101770434T>A | CA386302994 | GNPTAB | c.1085A>T (p.Asn362Ile) c.1004A>T (p.Asn335Ile) c.869A>T (p.Asn290Ile) c.-143A>T (n.-143A>T) | |
12 | g.101770434T>C | CA6746720 | GNPTAB | c.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 |
12 | g.101770434T>G | CA386302992 | GNPTAB | c.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 |
12 | g.101770434T= | CA2058957983 | GNPTAB | c.1085A= (p.Asn362=) c.1004A= (p.Asn335=) c.869A= (p.Asn290=) c.-143A= (n.-143A=) | |
12 | g.101770435T>A | CA386302997 | GNPTAB | c.1084A>T (p.Asn362Tyr) c.1003A>T (p.Asn335Tyr) c.868A>T (p.Asn290Tyr) c.-144A>T (n.-144A>T) | |
12 | g.101770435T>C | CA386302996 | GNPTAB | c.1084A>G (p.Asn362Asp) c.1003A>G (p.Asn335Asp) c.868A>G (p.Asn290Asp) c.-144A>G (n.-144A>G) | |
12 | g.101770435T>G | CA386302998 | GNPTAB | c.1084A>C (p.Asn362His) c.1003A>C (p.Asn335His) c.868A>C (p.Asn290His) c.-144A>C (n.-144A>C) | |
12 | g.101770436G>A | CA6746721 | GNPTAB | c.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 |
12 | g.101770436G>C | CA386303003 | GNPTAB | c.1083C>G (p.Asp361Glu) c.1002C>G (p.Asp334Glu) c.867C>G (p.Asp289Glu) c.-145C>G (n.-145C>G) | |
12 | g.101770436G= | CA2058957984 | GNPTAB | c.1083C= (p.Asp361=) c.1002C= (p.Asp334=) c.867C= (p.Asp289=) c.-145C= (n.-145C=) | |
12 | g.101770436G>T | CA386303001 | GNPTAB | c.1083C>A (p.Asp361Glu) c.1002C>A (p.Asp334Glu) c.867C>A (p.Asp289Glu) c.-145C>A (n.-145C>A) | |
12 | g.101770437T>A | CA386303004 | GNPTAB | c.1082A>T (p.Asp361Val) c.1001A>T (p.Asp334Val) c.866A>T (p.Asp289Val) c.-146A>T (n.-146A>T) | |
12 | g.101770437T>C | CA386303005 | GNPTAB | c.1082A>G (p.Asp361Gly) c.1001A>G (p.Asp334Gly) c.866A>G (p.Asp289Gly) c.-146A>G (n.-146A>G) | |
12 | g.101770437T>G | CA386303007 | GNPTAB | c.1082A>C (p.Asp361Ala) c.1001A>C (p.Asp334Ala) c.866A>C (p.Asp289Ala) c.-146A>C (n.-146A>C) | |
12 | g.101770438C>A | CA386303008 | GNPTAB | c.1081G>T (p.Asp361Tyr) c.1000G>T (p.Asp334Tyr) c.865G>T (p.Asp289Tyr) c.-147G>T (n.-147G>T) | |
12 | g.101770438C>G | CA386303010 | GNPTAB | c.1081G>C (p.Asp361His) c.1000G>C (p.Asp334His) c.865G>C (p.Asp289His) c.-147G>C (n.-147G>C) | |
12 | g.101770438C>T | CA386303011 | GNPTAB | c.1081G>A (p.Asp361Asn) c.1000G>A (p.Asp334Asn) c.865G>A (p.Asp289Asn) c.-147G>A (n.-147G>A) | gnomAD v4 |
12 | g.101770439A>C | CA481577262 | GNPTAB | c.1080T>G (p.Leu360=) c.999T>G (p.Leu333=) c.864T>G (p.Leu288=) c.-148T>G (n.-148T>G) | |
12 | g.101770439A>G | CA481577263 | GNPTAB | c.1080T>C (p.Leu360=) c.999T>C (p.Leu333=) c.864T>C (p.Leu288=) c.-148T>C (n.-148T>C) | |
12 | g.101770439A>T | CA481577264 | GNPTAB | c.1080T>A (p.Leu360=) c.999T>A (p.Leu333=) c.864T>A (p.Leu288=) c.-148T>A (n.-148T>A) | |
12 | g.101770440A>C | CA386303013 | GNPTAB | c.1079T>G (p.Leu360Arg) c.998T>G (p.Leu333Arg) c.863T>G (p.Leu288Arg) c.-149T>G (n.-149T>G) | |
12 | g.101770440A>G | CA386303014 | GNPTAB | c.1079T>C (p.Leu360Pro) c.998T>C (p.Leu333Pro) c.863T>C (p.Leu288Pro) c.-149T>C (n.-149T>C) | |
12 | g.101770440A>T | CA386303015 | GNPTAB | c.1079T>A (p.Leu360His) c.998T>A (p.Leu333His) c.863T>A (p.Leu288His) c.-149T>A (n.-149T>A) | |
12 | g.101770441G>A | CA6746722 | GNPTAB | c.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 |
12 | g.101770441G>C | CA386303018 | GNPTAB | c.1078C>G (p.Leu360Val) c.997C>G (p.Leu333Val) c.862C>G (p.Leu288Val) c.-150C>G (n.-150C>G) | dbSNP |
12 | g.101770441G= | CA2058957985 | GNPTAB | c.1078C= (p.Leu360=) c.997C= (p.Leu333=) c.862C= (p.Leu288=) c.-150C= (n.-150C=) | |
12 | g.101770441G>T | CA386303019 | GNPTAB | c.1078C>A (p.Leu360Ile) c.997C>A (p.Leu333Ile) c.862C>A (p.Leu288Ile) c.-150C>A (n.-150C>A) | |
12 | g.101770442G>A | CA481577265 | GNPTAB | c.1077C>T (p.Asn359=) c.996C>T (p.Asn332=) c.861C>T (p.Asn287=) c.-151C>T (n.-151C>T) | |
12 | g.101770442G>C | CA386303021 | GNPTAB | c.1077C>G (p.Asn359Lys) c.996C>G (p.Asn332Lys) c.861C>G (p.Asn287Lys) c.-151C>G (n.-151C>G) | |
12 | g.101770442G= | CA2058957986 | GNPTAB | c.1077C= (p.Asn359=) c.996C= (p.Asn332=) c.861C= (p.Asn287=) c.-151C= (n.-151C=) | |
12 | g.101770442G>T | CA386303020 | GNPTAB | c.1077C>A (p.Asn359Lys) c.996C>A (p.Asn332Lys) c.861C>A (p.Asn287Lys) c.-151C>A (n.-151C>A) | dbSNP |
12 | g.101770443T>A | CA386303023 | GNPTAB | c.1076A>T (p.Asn359Ile) c.995A>T (p.Asn332Ile) c.860A>T (p.Asn287Ile) c.-152A>T (n.-152A>T) | |
12 | g.101770443T>C | CA386303025 | GNPTAB | c.1076A>G (p.Asn359Ser) c.995A>G (p.Asn332Ser) c.860A>G (p.Asn287Ser) c.-152A>G (n.-152A>G) | |
12 | g.101770443T>G | CA386303027 | GNPTAB | c.1076A>C (p.Asn359Thr) c.995A>C (p.Asn332Thr) c.860A>C (p.Asn287Thr) c.-152A>C (n.-152A>C) | |
12 | g.101770444T>A | CA386303028 | GNPTAB | c.1075A>T (p.Asn359Tyr) c.994A>T (p.Asn332Tyr) c.859A>T (p.Asn287Tyr) c.-153A>T (n.-153A>T) | |
12 | g.101770444T>C | CA386303029 | GNPTAB | c.1075A>G (p.Asn359Asp) c.994A>G (p.Asn332Asp) c.859A>G (p.Asn287Asp) c.-153A>G (n.-153A>G) | |
12 | g.101770444T>G | CA386303030 | GNPTAB | c.1075A>C (p.Asn359His) c.994A>C (p.Asn332His) c.859A>C (p.Asn287His) c.-153A>C (n.-153A>C) | |
12 | g.101770445C>A | CA481577266 | GNPTAB | c.1074G>T (p.Leu358=) c.993G>T (p.Leu331=) c.858G>T (p.Leu286=) c.-154G>T (n.-154G>T) | |
12 | g.101770445C>G | CA481577267 | GNPTAB | c.1074G>C (p.Leu358=) c.993G>C (p.Leu331=) c.858G>C (p.Leu286=) c.-154G>C (n.-154G>C) | |
12 | g.101770445C>T | CA481577268 | GNPTAB | c.1074G>A (p.Leu358=) c.993G>A (p.Leu331=) c.858G>A (p.Leu286=) c.-154G>A (n.-154G>A) | |
12 | g.101770446A>C | CA386303035 | GNPTAB | c.1073T>G (p.Leu358Arg) c.992T>G (p.Leu331Arg) c.857T>G (p.Leu286Arg) c.-155T>G (n.-155T>G) | |
12 | g.101770446A>G | CA386303032 | GNPTAB | c.1073T>C (p.Leu358Pro) c.992T>C (p.Leu331Pro) c.857T>C (p.Leu286Pro) c.-155T>C (n.-155T>C) | |
12 | g.101770446A>T | CA386303034 | GNPTAB | c.1073T>A (p.Leu358Gln) c.992T>A (p.Leu331Gln) c.857T>A (p.Leu286Gln) c.-155T>A (n.-155T>A) | |
12 | g.101770447G>A | CA481577269 | GNPTAB | c.1072C>T (p.Leu358=) c.991C>T (p.Leu331=) c.856C>T (p.Leu286=) c.-156C>T (n.-156C>T) | ClinVar dbSNP |
12 | g.101770447G>C | CA386303037 | GNPTAB | c.1072C>G (p.Leu358Val) c.991C>G (p.Leu331Val) c.856C>G (p.Leu286Val) c.-156C>G (n.-156C>G) | |
12 | g.101770447G>T | CA386303039 | GNPTAB | c.1072C>A (p.Leu358Met) c.991C>A (p.Leu331Met) c.856C>A (p.Leu286Met) c.-156C>A (n.-156C>A) | |
12 | g.101770448C>A | CA386303040 | GNPTAB | c.1071G>T (p.Trp357Cys) c.990G>T (p.Trp330Cys) c.855G>T (p.Trp285Cys) c.-157G>T (n.-157G>T) | |
12 | g.101770448C>G | CA386303041 | GNPTAB | c.1071G>C (p.Trp357Cys) c.990G>C (p.Trp330Cys) c.855G>C (p.Trp285Cys) c.-157G>C (n.-157G>C) | |
12 | g.101770448C>T | CA386303042 | GNPTAB | c.1071G>A (p.Trp357Ter) c.990G>A (p.Trp330Ter) c.855G>A (p.Trp285Ter) c.-157G>A (n.-157G>A) | ClinVar dbSNP |
12 | g.101770449C>A | CA386303043 | GNPTAB | c.1070G>T (p.Trp357Leu) c.989G>T (p.Trp330Leu) c.854G>T (p.Trp285Leu) c.-158G>T (n.-158G>T) | |
12 | g.101770449C>G | CA386303047 | GNPTAB | c.1070G>C (p.Trp357Ser) c.989G>C (p.Trp330Ser) c.854G>C (p.Trp285Ser) c.-158G>C (n.-158G>C) | |
12 | g.101770449C>T | CA386303044 | GNPTAB | c.1070G>A (p.Trp357Ter) c.989G>A (p.Trp330Ter) c.854G>A (p.Trp285Ter) c.-158G>A (n.-158G>A) | |
12 | g.101770450A>C | CA386303048 | GNPTAB | c.1069T>G (p.Trp357Gly) c.988T>G (p.Trp330Gly) c.853T>G (p.Trp285Gly) c.-159T>G (n.-159T>G) | |
12 | g.101770450A>G | CA386303050 | GNPTAB | c.1069T>C (p.Trp357Arg) c.988T>C (p.Trp330Arg) c.853T>C (p.Trp285Arg) c.-159T>C (n.-159T>C) | |
12 | g.101770450A>T | CA386303051 | GNPTAB | c.1069T>A (p.Trp357Arg) c.988T>A (p.Trp330Arg) c.853T>A (p.Trp285Arg) c.-159T>A (n.-159T>A) | |
12 | g.101770451G>A | CA481577270 | GNPTAB | c.1068C>T (p.Ser356=) c.987C>T (p.Ser329=) c.852C>T (p.Ser284=) c.-160C>T (n.-160C>T) | |
12 | g.101770451G>C | CA481577271 | GNPTAB | c.1068C>G (p.Ser356=) c.987C>G (p.Ser329=) c.852C>G (p.Ser284=) c.-160C>G (n.-160C>G) | |
12 | g.101770451G>T | CA481577272 | GNPTAB | c.1068C>A (p.Ser356=) c.987C>A (p.Ser329=) c.852C>A (p.Ser284=) c.-160C>A (n.-160C>A) | |
12 | g.101770452G>A | CA386303053 | GNPTAB | c.1067C>T (p.Ser356Phe) c.986C>T (p.Ser329Phe) c.851C>T (p.Ser284Phe) c.-161C>T (n.-161C>T) | |
12 | g.101770452G>C | CA386303054 | GNPTAB | c.1067C>G (p.Ser356Cys) c.986C>G (p.Ser329Cys) c.851C>G (p.Ser284Cys) c.-161C>G (n.-161C>G) | gnomAD v4 |
12 | g.101770452G>T | CA386303055 | GNPTAB | c.1067C>A (p.Ser356Tyr) c.986C>A (p.Ser329Tyr) c.851C>A (p.Ser284Tyr) c.-161C>A (n.-161C>A) | |
12 | g.101770453A>C | CA386303058 | GNPTAB | c.1066T>G (p.Ser356Ala) c.985T>G (p.Ser329Ala) c.850T>G (p.Ser284Ala) c.-162T>G (n.-162T>G) | |
12 | g.101770453A>G | CA386303059 | GNPTAB | c.1066T>C (p.Ser356Pro) c.985T>C (p.Ser329Pro) c.850T>C (p.Ser284Pro) c.-162T>C (n.-162T>C) | |
12 | g.101770453A>T | CA386303061 | GNPTAB | c.1066T>A (p.Ser356Thr) c.985T>A (p.Ser329Thr) c.850T>A (p.Ser284Thr) c.-162T>A (n.-162T>A) | gnomAD v4 |
12 | g.101770454T>A | CA481577273 | GNPTAB | c.1065A>T (p.Pro355=) c.984A>T (p.Pro328=) c.849A>T (p.Pro283=) c.-163A>T (n.-163A>T) | |
12 | g.101770454T>C | CA481577274 | GNPTAB | c.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 |
12 | g.101770454T>G | CA481577275 | GNPTAB | c.1065A>C (p.Pro355=) c.984A>C (p.Pro328=) c.849A>C (p.Pro283=) c.-163A>C (n.-163A>C) | |
12 | g.101770454T= | CA2058957987 | GNPTAB | c.1065A= (p.Pro355=) c.984A= (p.Pro328=) c.849A= (p.Pro283=) c.-163A= (n.-163A=) | |
12 | g.101770455G>A | CA386303062 | GNPTAB | c.1064C>T (p.Pro355Leu) c.983C>T (p.Pro328Leu) c.848C>T (p.Pro283Leu) c.-164C>T (n.-164C>T) | gnomAD v4 |
12 | g.101770455G>C | CA386303063 | GNPTAB | c.1064C>G (p.Pro355Arg) c.983C>G (p.Pro328Arg) c.848C>G (p.Pro283Arg) c.-164C>G (n.-164C>G) | |
12 | g.101770455G>T | CA386303065 | GNPTAB | c.1064C>A (p.Pro355Gln) c.983C>A (p.Pro328Gln) c.848C>A (p.Pro283Gln) c.-164C>A (n.-164C>A) | |
12 | g.101770456G>A | CA386303070 | GNPTAB | c.1063C>T (p.Pro355Ser) c.982C>T (p.Pro328Ser) c.847C>T (p.Pro283Ser) c.-165C>T (n.-165C>T) | gnomAD v4 |
12 | g.101770456G>C | CA386303069 | GNPTAB | c.1063C>G (p.Pro355Ala) c.982C>G (p.Pro328Ala) c.847C>G (p.Pro283Ala) c.-165C>G (n.-165C>G) | |
12 | g.101770456G>T | CA386303067 | GNPTAB | c.1063C>A (p.Pro355Thr) c.982C>A (p.Pro328Thr) c.847C>A (p.Pro283Thr) c.-165C>A (n.-165C>A) | |
12 | g.101770457A>C | CA386303071 | GNPTAB | c.1062T>G (p.Ile354Met) c.981T>G (p.Ile327Met) c.846T>G (p.Ile282Met) c.-166T>G (n.-166T>G) | |
12 | g.101770457A>G | CA481577276 | GNPTAB | c.1062T>C (p.Ile354=) c.981T>C (p.Ile327=) c.846T>C (p.Ile282=) c.-166T>C (n.-166T>C) | |
12 | g.101770457A>T | CA481577277 | GNPTAB | c.1062T>A (p.Ile354=) c.981T>A (p.Ile327=) c.846T>A (p.Ile282=) c.-166T>A (n.-166T>A) | |
12 | g.101770458A>C | CA386303073 | GNPTAB | c.1061T>G (p.Ile354Ser) c.980T>G (p.Ile327Ser) c.845T>G (p.Ile282Ser) c.-167T>G (n.-167T>G) | |
12 | g.101770458A>G | CA386303075 | GNPTAB | c.1061T>C (p.Ile354Thr) c.980T>C (p.Ile327Thr) c.845T>C (p.Ile282Thr) c.-167T>C (n.-167T>C) | |
12 | g.101770458A>T | CA386303076 | GNPTAB | c.1061T>A (p.Ile354Asn) c.980T>A (p.Ile327Asn) c.845T>A (p.Ile282Asn) c.-167T>A (n.-167T>A) | |
12 | g.101770459T>A | CA386303078 | GNPTAB | c.1060A>T (p.Ile354Phe) c.979A>T (p.Ile327Phe) c.844A>T (p.Ile282Phe) c.-168A>T (n.-168A>T) | |
12 | g.101770459T>C | CA242462533 | GNPTAB | c.1060A>G (p.Ile354Val) c.979A>G (p.Ile327Val) c.844A>G (p.Ile282Val) c.-168A>G (n.-168A>G) | dbSNP gnomAD v4 |
12 | g.101770459T>G | CA386303080 | GNPTAB | c.1060A>C (p.Ile354Leu) c.979A>C (p.Ile327Leu) c.844A>C (p.Ile282Leu) c.-168A>C (n.-168A>C) | |
12 | g.101770459T= | CA2058957988 | GNPTAB | c.1060A= (p.Ile354=) c.979A= (p.Ile327=) c.844A= (p.Ile282=) c.-168A= (n.-168A=) | |
12 | g.101770460C>A | CA386303082 | GNPTAB | c.1059G>T (p.Gln353His) c.978G>T (p.Gln326His) c.843G>T (p.Gln281His) c.-169G>T (n.-169G>T) | |
12 | g.101770460C>G | CA386303083 | GNPTAB | c.1059G>C (p.Gln353His) c.978G>C (p.Gln326His) c.843G>C (p.Gln281His) c.-169G>C (n.-169G>C) | |
12 | g.101770460C>T | CA481577278 | GNPTAB | c.1059G>A (p.Gln353=) c.978G>A (p.Gln326=) c.843G>A (p.Gln281=) c.-169G>A (n.-169G>A) | |
12 | g.101770461T>A | CA386303084 | GNPTAB | c.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 |
12 | g.101770461T>C | CA386303086 | GNPTAB | c.1058A>G (p.Gln353Arg) c.977A>G (p.Gln326Arg) c.842A>G (p.Gln281Arg) c.-170A>G (n.-170A>G) | |
12 | g.101770461T>G | CA386303088 | GNPTAB | c.1058A>C (p.Gln353Pro) c.977A>C (p.Gln326Pro) c.842A>C (p.Gln281Pro) c.-170A>C (n.-170A>C) | |
12 | g.101770461T= | CA2058957989 | GNPTAB | c.1058A= (p.Gln353=) c.977A= (p.Gln326=) c.842A= (p.Gln281=) c.-170A= (n.-170A=) | |
12 | g.101770462G>A | CA386303089 | GNPTAB | c.1057C>T (p.Gln353Ter) c.976C>T (p.Gln326Ter) c.841C>T (p.Gln281Ter) c.-171C>T (n.-171C>T) | |
12 | g.101770462G>C | CA386303092 | GNPTAB | c.1057C>G (p.Gln353Glu) c.976C>G (p.Gln326Glu) c.841C>G (p.Gln281Glu) c.-171C>G (n.-171C>G) | |
12 | g.101770462G>T | CA386303090 | GNPTAB | c.1057C>A (p.Gln353Lys) c.976C>A (p.Gln326Lys) c.841C>A (p.Gln281Lys) c.-171C>A (n.-171C>A) | |
12 | g.101770463C>A | CA481577279 | GNPTAB | c.1056G>T (p.Gly352=) c.975G>T (p.Gly325=) c.840G>T (p.Gly280=) c.-172G>T (n.-172G>T) | COSMIC |
12 | g.101770463C>G | CA481577280 | GNPTAB | c.1056G>C (p.Gly352=) c.975G>C (p.Gly325=) c.840G>C (p.Gly280=) c.-172G>C (n.-172G>C) | |
12 | g.101770463C>T | CA481577281 | GNPTAB | c.1056G>A (p.Gly352=) c.975G>A (p.Gly325=) c.840G>A (p.Gly280=) c.-172G>A (n.-172G>A) | |
12 | g.101770464C>A | CA386303093 | GNPTAB | c.1055G>T (p.Gly352Val) c.974G>T (p.Gly325Val) c.839G>T (p.Gly280Val) c.-173G>T (n.-173G>T) | |
12 | g.101770464C>G | CA386303097 | GNPTAB | c.1055G>C (p.Gly352Ala) c.974G>C (p.Gly325Ala) c.839G>C (p.Gly280Ala) c.-173G>C (n.-173G>C) | |
12 | g.101770464C>T | CA386303095 | GNPTAB | c.1055G>A (p.Gly352Glu) c.974G>A (p.Gly325Glu) c.839G>A (p.Gly280Glu) c.-173G>A (n.-173G>A) | |
12 | g.101770465C>A | CA386303098 | GNPTAB | c.1054G>T (p.Gly352Trp) c.973G>T (p.Gly325Trp) c.838G>T (p.Gly280Trp) c.-174G>T (n.-174G>T) | |
12 | g.101770465C= | CA2058957990 | GNPTAB | c.1054G= (p.Gly352=) c.973G= (p.Gly325=) c.838G= (p.Gly280=) c.-174G= (n.-174G=) | |
12 | g.101770465C>G | CA386303099 | GNPTAB | c.1054G>C (p.Gly352Arg) c.973G>C (p.Gly325Arg) c.838G>C (p.Gly280Arg) c.-174G>C (n.-174G>C) | gnomAD v4 |
12 | g.101770465C>T | CA6746723 | GNPTAB | c.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 |
12 | g.101770466G>A | CA6746724 | GNPTAB | c.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 |
12 | g.101770466G>C | CA386303103 | GNPTAB | c.1053C>G (p.Asn351Lys) c.972C>G (p.Asn324Lys) c.837C>G (p.Asn279Lys) c.-175C>G (n.-175C>G) | |
12 | g.101770466G= | CA2058957991 | GNPTAB | c.1053C= (p.Asn351=) c.972C= (p.Asn324=) c.837C= (p.Asn279=) c.-175C= (n.-175C=) | |
12 | g.101770466G>T | CA386303104 | GNPTAB | c.1053C>A (p.Asn351Lys) c.972C>A (p.Asn324Lys) c.837C>A (p.Asn279Lys) c.-175C>A (n.-175C>A) | |
12 | g.101770467T>A | CA386303106 | GNPTAB | c.1052A>T (p.Asn351Ile) c.971A>T (p.Asn324Ile) c.836A>T (p.Asn279Ile) c.-176A>T (n.-176A>T) | |
12 | g.101770467T>C | CA6746725 | GNPTAB | c.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 |
12 | g.101770467T>G | CA386303108 | GNPTAB | c.1052A>C (p.Asn351Thr) c.971A>C (p.Asn324Thr) c.836A>C (p.Asn279Thr) c.-176A>C (n.-176A>C) | |
12 | g.101770467T= | CA2058957992 | GNPTAB | c.1052A= (p.Asn351=) c.971A= (p.Asn324=) c.836A= (p.Asn279=) c.-176A= (n.-176A=) | |
12 | g.101770468dup | CA2620452042 | GNPTAB | c.1052dup (p.Asn351LysfsTer11) c.971dup (p.Asn324LysfsTer11) c.836dup (p.Asn279LysfsTer11) c.-176dup (n.-176dup) | ClinVar gnomAD v4 |
12 | g.101770468T>A | CA386303109 | GNPTAB | c.1051A>T (p.Asn351Tyr) c.970A>T (p.Asn324Tyr) c.835A>T (p.Asn279Tyr) c.-177A>T (n.-177A>T) | |
12 | g.101770468T>C | CA6746726 | GNPTAB | c.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 |
12 | g.101770468T>G | CA386303111 | GNPTAB | c.1051A>C (p.Asn351His) c.970A>C (p.Asn324His) c.835A>C (p.Asn279His) c.-177A>C (n.-177A>C) | |
12 | g.101770468T= | CA2058957993 | GNPTAB | c.1051A= (p.Asn351=) c.970A= (p.Asn324=) c.835A= (p.Asn279=) c.-177A= (n.-177A=) | |
12 | g.101770469G>A | CA481577283 | GNPTAB | c.1050C>T (p.Thr350=) c.969C>T (p.Thr323=) c.834C>T (p.Thr278=) c.-178C>T (n.-178C>T) | ClinVar |
12 | g.101770469G>C | CA481577284 | GNPTAB | c.1050C>G (p.Thr350=) c.969C>G (p.Thr323=) c.834C>G (p.Thr278=) c.-178C>G (n.-178C>G) | |
12 | g.101770469G>T | CA481577282 | GNPTAB | c.1050C>A (p.Thr350=) c.969C>A (p.Thr323=) c.834C>A (p.Thr278=) c.-178C>A (n.-178C>A) | |
12 | g.101770470G>A | CA386303116 | GNPTAB | c.1049C>T (p.Thr350Ile) c.968C>T (p.Thr323Ile) c.833C>T (p.Thr278Ile) c.-179C>T (n.-179C>T) | |
12 | g.101770470G>C | CA386303112 | GNPTAB | c.1049C>G (p.Thr350Ser) c.968C>G (p.Thr323Ser) c.833C>G (p.Thr278Ser) c.-179C>G (n.-179C>G) | gnomAD v4 |
12 | g.101770470G>T | CA386303114 | GNPTAB | c.1049C>A (p.Thr350Asn) c.968C>A (p.Thr323Asn) c.833C>A (p.Thr278Asn) c.-179C>A (n.-179C>A) | |
12 | g.101770471T>A | CA386303118 | GNPTAB | c.1048A>T (p.Thr350Ser) c.967A>T (p.Thr323Ser) c.832A>T (p.Thr278Ser) c.-180A>T (n.-180A>T) | |
12 | g.101770471T>C | CA386303119 | GNPTAB | c.1048A>G (p.Thr350Ala) c.967A>G (p.Thr323Ala) c.832A>G (p.Thr278Ala) c.-180A>G (n.-180A>G) | |
12 | g.101770471T>G | CA386303120 | GNPTAB | c.1048A>C (p.Thr350Pro) c.967A>C (p.Thr323Pro) c.832A>C (p.Thr278Pro) c.-180A>C (n.-180A>C) | |
12 | g.101770472G>A | CA481577287 | GNPTAB | c.1047C>T (p.Val349=) c.966C>T (p.Val322=) c.831C>T (p.Val277=) c.-181C>T (n.-181C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101770472G>C | CA481577286 | GNPTAB | c.1047C>G (p.Val349=) c.966C>G (p.Val322=) c.831C>G (p.Val277=) c.-181C>G (n.-181C>G) | |
12 | g.101770472G>T | CA481577285 | GNPTAB | c.1047C>A (p.Val349=) c.966C>A (p.Val322=) c.831C>A (p.Val277=) c.-181C>A (n.-181C>A) | |
12 | g.101770473A>C | CA386303122 | GNPTAB | c.1046T>G (p.Val349Gly) c.965T>G (p.Val322Gly) c.830T>G (p.Val277Gly) c.-182T>G (n.-182T>G) | |
12 | g.101770473A>G | CA386303124 | GNPTAB | c.1046T>C (p.Val349Ala) c.965T>C (p.Val322Ala) c.830T>C (p.Val277Ala) c.-182T>C (n.-182T>C) | |
12 | g.101770473A>T | CA386303126 | GNPTAB | c.1046T>A (p.Val349Asp) c.965T>A (p.Val322Asp) c.830T>A (p.Val277Asp) c.-182T>A (n.-182T>A) | |
12 | g.101770474C>A | CA386303127 | GNPTAB | c.1045G>T (p.Val349Phe) c.964G>T (p.Val322Phe) c.829G>T (p.Val277Phe) c.-183G>T (n.-183G>T) | |
12 | g.101770474C= | CA2058957994 | GNPTAB | c.1045G= (p.Val349=) c.964G= (p.Val322=) c.829G= (p.Val277=) c.-183G= (n.-183G=) | |
12 | g.101770474C>G | CA386303128 | GNPTAB | c.1045G>C (p.Val349Leu) c.964G>C (p.Val322Leu) c.829G>C (p.Val277Leu) c.-183G>C (n.-183G>C) | |
12 | g.101770474C>T | CA386303130 | GNPTAB | c.1045G>A (p.Val349Ile) c.964G>A (p.Val322Ile) c.829G>A (p.Val277Ile) c.-183G>A (n.-183G>A) | dbSNP |
12 | g.101770475A= | CA2058957995 | GNPTAB | c.1044T= (p.Ile348=) c.963T= (p.Ile321=) c.828T= (p.Ile276=) c.-184T= (n.-184T=) | |
12 | g.101770475A>C | CA386303131 | GNPTAB | c.1044T>G (p.Ile348Met) c.963T>G (p.Ile321Met) c.828T>G (p.Ile276Met) c.-184T>G (n.-184T>G) | dbSNP |
12 | g.101770475A>G | CA481577289 | GNPTAB | c.1044T>C (p.Ile348=) c.963T>C (p.Ile321=) c.828T>C (p.Ile276=) c.-184T>C (n.-184T>C) | gnomAD v4 |
12 | g.101770475A>T | CA481577288 | GNPTAB | c.1044T>A (p.Ile348=) c.963T>A (p.Ile321=) c.828T>A (p.Ile276=) c.-184T>A (n.-184T>A) | |
12 | g.101770477_101770480del | CA2620452059 | GNPTAB | c.1041_1044del (p.Phe347LeufsTer11) c.960_963del (p.Phe320LeufsTer11) c.825_828del (p.Phe275LeufsTer11) c.-187_-184del (n.-187_-184del) | gnomAD v4 |
12 | g.101770476A= | CA2058957996 | GNPTAB | c.1043T= (p.Ile348=) c.962T= (p.Ile321=) c.827T= (p.Ile276=) c.-185T= (n.-185T=) | |
12 | g.101770476A>C | CA386303135 | GNPTAB | c.1043T>G (p.Ile348Ser) c.962T>G (p.Ile321Ser) c.827T>G (p.Ile276Ser) c.-185T>G (n.-185T>G) | |
12 | g.101770476A>G | CA6746727 | GNPTAB | c.1043T>C (p.Ile348Thr) c.962T>C (p.Ile321Thr) c.827T>C (p.Ile276Thr) c.-185T>C (n.-185T>C) | dbSNP ExAC gnomAD v2 |
12 | g.101770476A>T | CA386303133 | GNPTAB | c.1043T>A (p.Ile348Asn) c.962T>A (p.Ile321Asn) c.827T>A (p.Ile276Asn) c.-185T>A (n.-185T>A) | |
12 | g.101770477T>A | CA386303136 | GNPTAB | c.1042A>T (p.Ile348Phe) c.961A>T (p.Ile321Phe) c.826A>T (p.Ile276Phe) c.-186A>T (n.-186A>T) | |
12 | g.101770477T>C | CA386303138 | GNPTAB | c.1042A>G (p.Ile348Val) c.961A>G (p.Ile321Val) c.826A>G (p.Ile276Val) c.-186A>G (n.-186A>G) | dbSNP gnomAD v4 |
12 | g.101770477T>G | CA343333 | GNPTAB | c.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 |
12 | g.101770477T= | CA2058957997 | GNPTAB | c.1042A= (p.Ile348=) c.961A= (p.Ile321=) c.826A= (p.Ile276=) c.-186A= (n.-186A=) | |
12 | g.101770478G>A | CA481577290 | GNPTAB | c.1041C>T (p.Phe347=) c.960C>T (p.Phe320=) c.825C>T (p.Phe275=) c.-187C>T (n.-187C>T) | |
12 | g.101770478G>C | CA386303140 | GNPTAB | c.1041C>G (p.Phe347Leu) c.960C>G (p.Phe320Leu) c.825C>G (p.Phe275Leu) c.-187C>G (n.-187C>G) | |
12 | g.101770478G>T | CA386303141 | GNPTAB | c.1041C>A (p.Phe347Leu) c.960C>A (p.Phe320Leu) c.825C>A (p.Phe275Leu) c.-187C>A (n.-187C>A) | |
12 | g.101770479A>C | CA386303143 | GNPTAB | c.1040T>G (p.Phe347Cys) c.959T>G (p.Phe320Cys) c.824T>G (p.Phe275Cys) c.-188T>G (n.-188T>G) | |
12 | g.101770479A>G | CA386303144 | GNPTAB | c.1040T>C (p.Phe347Ser) c.959T>C (p.Phe320Ser) c.824T>C (p.Phe275Ser) c.-188T>C (n.-188T>C) | |
12 | g.101770479A>T | CA386303146 | GNPTAB | c.1040T>A (p.Phe347Tyr) c.959T>A (p.Phe320Tyr) c.824T>A (p.Phe275Tyr) c.-188T>A (n.-188T>A) | |
12 | g.101770480A>C | CA386303147 | GNPTAB | c.1039T>G (p.Phe347Val) c.958T>G (p.Phe320Val) c.823T>G (p.Phe275Val) c.-189T>G (n.-189T>G) | |
12 | g.101770480A>G | CA386303149 | GNPTAB | c.1039T>C (p.Phe347Leu) c.958T>C (p.Phe320Leu) c.823T>C (p.Phe275Leu) c.-189T>C (n.-189T>C) | |
12 | g.101770480A>T | CA386303151 | GNPTAB | c.1039T>A (p.Phe347Ile) c.958T>A (p.Phe320Ile) c.823T>A (p.Phe275Ile) c.-189T>A (n.-189T>A) | |
12 | g.101770481A= | CA2058957999 | GNPTAB | c.1038T= (p.Ile346=) c.957T= (p.Ile319=) c.822T= (p.Ile274=) c.-190T= (n.-190T=) | |
12 | g.101770481A>C | CA386303152 | GNPTAB | c.1038T>G (p.Ile346Met) c.957T>G (p.Ile319Met) c.822T>G (p.Ile274Met) c.-190T>G (n.-190T>G) | |
12 | g.101770481A>G | CA481320728 | GNPTAB | c.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 |
12 | g.101770481A>T | CA481320729 | GNPTAB | c.1038T>A (p.Ile346=) c.957T>A (p.Ile319=) c.822T>A (p.Ile274=) c.-190T>A (n.-190T>A) | |
12 | g.101770481_101770483delinsAAT | CA2058957998 | GNPTAB | c.1036_1038delinsATT (p.Ile346=) c.955_957delinsATT (p.Ile319=) c.820_822delinsATT (p.Ile274=) c.-192_-190delinsATT (n.-192_-190delinsATT) | |
12 | g.101770482A>C | CA386303158 | GNPTAB | c.1037T>G (p.Ile346Ser) c.956T>G (p.Ile319Ser) c.821T>G (p.Ile274Ser) c.-191T>G (n.-191T>G) | |
12 | g.101770482A>G | CA386303154 | GNPTAB | c.1037T>C (p.Ile346Thr) c.956T>C (p.Ile319Thr) c.821T>C (p.Ile274Thr) c.-191T>C (n.-191T>C) | COSMIC COSMIC |
12 | g.101770482A>T | CA386303156 | GNPTAB | c.1037T>A (p.Ile346Asn) c.956T>A (p.Ile319Asn) c.821T>A (p.Ile274Asn) c.-191T>A (n.-191T>A) | |
12 | g.101770484_101770485del | CA223749 | GNPTAB | c.1036_1037del (p.Ile346PhefsTer15) c.955_956del (p.Ile319PhefsTer15) c.820_821del (p.Ile274PhefsTer15) c.-192_-191del (n.-192_-191del) | ClinVar dbSNP |
12 | g.101770483T>A | CA386303159 | GNPTAB | c.1036A>T (p.Ile346Phe) c.955A>T (p.Ile319Phe) c.820A>T (p.Ile274Phe) c.-192A>T (n.-192A>T) | |
12 | g.101770483T>C | CA386303161 | GNPTAB | c.1036A>G (p.Ile346Val) c.955A>G (p.Ile319Val) c.820A>G (p.Ile274Val) c.-192A>G (n.-192A>G) | |
12 | g.101770483T>G | CA386303163 | GNPTAB | c.1036A>C (p.Ile346Leu) c.955A>C (p.Ile319Leu) c.820A>C (p.Ile274Leu) c.-192A>C (n.-192A>C) | |
12 | g.101770484A>C | CA386303165 | GNPTAB | c.1035T>G (p.Asn345Lys) c.954T>G (p.Asn318Lys) c.819T>G (p.Asn273Lys) c.-193T>G (n.-193T>G) | |
12 | g.101770484A>G | CA481320731 | GNPTAB | c.1035T>C (p.Asn345=) c.954T>C (p.Asn318=) c.819T>C (p.Asn273=) c.-193T>C (n.-193T>C) | |
12 | g.101770484A>T | CA386303166 | GNPTAB | c.1035T>A (p.Asn345Lys) c.954T>A (p.Asn318Lys) c.819T>A (p.Asn273Lys) c.-193T>A (n.-193T>A) | |
12 | g.101770485T>A | CA386303168 | GNPTAB | c.1034A>T (p.Asn345Ile) c.953A>T (p.Asn318Ile) c.818A>T (p.Asn273Ile) c.-194A>T (n.-194A>T) | |
12 | g.101770485T>C | CA6746728 | GNPTAB | c.1034A>G (p.Asn345Ser) c.953A>G (p.Asn318Ser) c.818A>G (p.Asn273Ser) c.-194A>G (n.-194A>G) | dbSNP ExAC gnomAD v2 |
12 | g.101770485T>G | CA386303169 | GNPTAB | c.1034A>C (p.Asn345Thr) c.953A>C (p.Asn318Thr) c.818A>C (p.Asn273Thr) c.-194A>C (n.-194A>C) | |
12 | g.101770485T= | CA2058958000 | GNPTAB | c.1034A= (p.Asn345=) c.953A= (p.Asn318=) c.818A= (p.Asn273=) c.-194A= (n.-194A=) | |
12 | g.101770486T>A | CA386303171 | GNPTAB | c.1033A>T (p.Asn345Tyr) c.952A>T (p.Asn318Tyr) c.817A>T (p.Asn273Tyr) c.-195A>T (n.-195A>T) | |
12 | g.101770486T>C | CA386303172 | GNPTAB | c.1033A>G (p.Asn345Asp) c.952A>G (p.Asn318Asp) c.817A>G (p.Asn273Asp) c.-195A>G (n.-195A>G) | |
12 | g.101770486T>G | CA386303173 | GNPTAB | c.1033A>C (p.Asn345His) c.952A>C (p.Asn318His) c.817A>C (p.Asn273His) c.-195A>C (n.-195A>C) | |
12 | g.101770486_101770487del | CA912973305 | GNPTAB | c.1032_1033del (p.Asn345TyrfsTer16) c.951_952del (p.Asn318TyrfsTer16) c.816_817del (p.Asn273TyrfsTer16) c.-196_-195del (n.-196_-195del) | |
12 | g.101770486_101770487delinsTC | CA2058958001 | GNPTAB | c.1032_1033delinsGA (p.Arg344=) c.951_952delinsGA (p.Arg317=) c.816_817delinsGA (p.Arg272=) c.-196_-195delinsGA (n.-196_-195delinsGA) | |
12 | g.101770487C>A | CA481320733 | GNPTAB | c.1032G>T (p.Arg344=) c.951G>T (p.Arg317=) c.816G>T (p.Arg272=) c.-196G>T (n.-196G>T) | |
12 | g.101770487C>G | CA481320734 | GNPTAB | c.1032G>C (p.Arg344=) c.951G>C (p.Arg317=) c.816G>C (p.Arg272=) c.-196G>C (n.-196G>C) | |
12 | g.101770487C>T | CA481320735 | GNPTAB | c.1032G>A (p.Arg344=) c.951G>A (p.Arg317=) c.816G>A (p.Arg272=) c.-196G>A (n.-196G>A) | |
12 | g.101770488del | CA658822545 | GNPTAB | c.1032del (p.Asn345IlefsTer14) c.951del (p.Asn318IlefsTer14) c.816del (p.Asn273IlefsTer14) c.-196del (n.-196del) | ClinVar dbSNP |
12 | g.101770488C>A | CA386303176 | GNPTAB | c.1031G>T (p.Arg344Leu) c.950G>T (p.Arg317Leu) c.815G>T (p.Arg272Leu) c.-197G>T (n.-197G>T) | gnomAD v4 |
12 | g.101770488C= | CA2058958002 | GNPTAB | c.1031G= (p.Arg344=) c.950G= (p.Arg317=) c.815G= (p.Arg272=) c.-197G= (n.-197G=) | |
12 | g.101770488C>G | CA386303178 | GNPTAB | c.1031G>C (p.Arg344Pro) c.950G>C (p.Arg317Pro) c.815G>C (p.Arg272Pro) c.-197G>C (n.-197G>C) | |
12 | g.101770488C>T | CA386303174 | GNPTAB | c.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 |
12 | g.101770489G>A | CA386303181 | GNPTAB | c.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 |
12 | g.101770489G>C | CA386303179 | GNPTAB | c.1030C>G (p.Arg344Gly) c.949C>G (p.Arg317Gly) c.814C>G (p.Arg272Gly) c.-198C>G (n.-198C>G) | |
12 | g.101770489G= | CA2058958003 | GNPTAB | c.1030C= (p.Arg344=) c.949C= (p.Arg317=) c.814C= (p.Arg272=) c.-198C= (n.-198C=) | |
12 | g.101770489G>T | CA481320736 | GNPTAB | c.1030C>A (p.Arg344=) c.949C>A (p.Arg317=) c.814C>A (p.Arg272=) c.-198C>A (n.-198C>A) | |
12 | g.101770490A>C | CA481320737 | GNPTAB | c.1029T>G (p.Val343=) c.948T>G (p.Val316=) c.813T>G (p.Val271=) c.-199T>G (n.-199T>G) | gnomAD v4 |
12 | g.101770490A>G | CA481320738 | GNPTAB | c.1029T>C (p.Val343=) c.948T>C (p.Val316=) c.813T>C (p.Val271=) c.-199T>C (n.-199T>C) | |
12 | g.101770490A>T | CA481320739 | GNPTAB | c.1029T>A (p.Val343=) c.948T>A (p.Val316=) c.813T>A (p.Val271=) c.-199T>A (n.-199T>A) | |
12 | g.101770491A>C | CA386303184 | GNPTAB | c.1028T>G (p.Val343Gly) c.947T>G (p.Val316Gly) c.812T>G (p.Val271Gly) c.-200T>G (n.-200T>G) | |
12 | g.101770491A>G | CA386303182 | GNPTAB | c.1028T>C (p.Val343Ala) c.947T>C (p.Val316Ala) c.812T>C (p.Val271Ala) c.-200T>C (n.-200T>C) | |
12 | g.101770491A>T | CA386303183 | GNPTAB | c.1028T>A (p.Val343Asp) c.947T>A (p.Val316Asp) c.812T>A (p.Val271Asp) c.-200T>A (n.-200T>A) | |
12 | g.101770492C>A | CA6746729 | GNPTAB | c.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 |
12 | g.101770492C= | CA2058958004 | GNPTAB | c.1027G= (p.Val343=) c.946G= (p.Val316=) c.811G= (p.Val271=) c.-201G= (n.-201G=) | |
12 | g.101770492C>G | CA386303185 | GNPTAB | c.1027G>C (p.Val343Leu) c.946G>C (p.Val316Leu) c.811G>C (p.Val271Leu) c.-201G>C (n.-201G>C) | |
12 | g.101770492C>T | CA6746730 | GNPTAB | c.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 |
12 | g.101770493C>A | CA386303187 | GNPTAB | c.1026G>T (p.Trp342Cys) c.945G>T (p.Trp315Cys) c.810G>T (p.Trp270Cys) c.-202G>T (n.-202G>T) | gnomAD v4 |
12 | g.101770493C= | CA2058958005 | GNPTAB | c.1026G= (p.Trp342=) c.945G= (p.Trp315=) c.810G= (p.Trp270=) c.-202G= (n.-202G=) | |
12 | g.101770493C>G | CA386303189 | GNPTAB | c.1026G>C (p.Trp342Cys) c.945G>C (p.Trp315Cys) c.810G>C (p.Trp270Cys) c.-202G>C (n.-202G>C) | |
12 | g.101770493C>T | CA386303190 | GNPTAB | c.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 |
12 | g.101770494C>A | CA386303191 | GNPTAB | c.1025G>T (p.Trp342Leu) c.944G>T (p.Trp315Leu) c.809G>T (p.Trp270Leu) c.-203G>T (n.-203G>T) | |
12 | g.101770494C>G | CA386303193 | GNPTAB | c.1025G>C (p.Trp342Ser) c.944G>C (p.Trp315Ser) c.809G>C (p.Trp270Ser) c.-203G>C (n.-203G>C) | |
12 | g.101770494C>T | CA386303194 | GNPTAB | c.1025G>A (p.Trp342Ter) c.944G>A (p.Trp315Ter) c.809G>A (p.Trp270Ter) c.-203G>A (n.-203G>A) | |
12 | g.101770495A= | CA2058958006 | GNPTAB | c.1024T= (p.Trp342=) c.943T= (p.Trp315=) c.808T= (p.Trp270=) c.-204T= (n.-204T=) | |
12 | g.101770495A>C | CA386303200 | GNPTAB | c.1024T>G (p.Trp342Gly) c.943T>G (p.Trp315Gly) c.808T>G (p.Trp270Gly) c.-204T>G (n.-204T>G) | |
12 | g.101770495A>G | CA386303198 | GNPTAB | c.1024T>C (p.Trp342Arg) c.943T>C (p.Trp315Arg) c.808T>C (p.Trp270Arg) c.-204T>C (n.-204T>C) | dbSNP |
12 | g.101770495A>T | CA386303196 | GNPTAB | c.1024T>A (p.Trp342Arg) c.943T>A (p.Trp315Arg) c.808T>A (p.Trp270Arg) c.-204T>A (n.-204T>A) | |
12 | g.101770495_101770498delinsATGG | CA2058958007 | GNPTAB | c.1021_1024delinsCCAT (p.Pro341=) c.940_943delinsCCAT (p.Pro314=) c.805_808delinsCCAT (p.Pro269=) c.-207_-204delinsCCAT (n.-207_-204delinsCCAT) | |
12 | g.101770496T>A | CA481320740 | GNPTAB | c.1023A>T (p.Pro341=) c.942A>T (p.Pro314=) c.807A>T (p.Pro269=) c.-205A>T (n.-205A>T) | |
12 | g.101770496T>C | CA6746731 | GNPTAB | c.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 |
12 | g.101770496T>G | CA481320742 | GNPTAB | c.1023A>C (p.Pro341=) c.942A>C (p.Pro314=) c.807A>C (p.Pro269=) c.-205A>C (n.-205A>C) | ClinVar |
12 | g.101770496T= | CA2058958008 | GNPTAB | c.1023A= (p.Pro341=) c.942A= (p.Pro314=) c.807A= (p.Pro269=) c.-205A= (n.-205A=) | |
12 | g.101770496dup | CA682731465 | GNPTAB | c.1023dup (p.Trp342MetfsTer20) c.942dup (p.Trp315MetfsTer20) c.807dup (p.Trp270MetfsTer20) c.-205dup (n.-205dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770498_101770500del | CA16609433 | GNPTAB | c.1021_1023del (p.Pro341del) c.940_942del (p.Pro314del) c.805_807del (p.Pro269del) c.-207_-205del (n.-207_-205del) | ClinVar dbSNP |
12 | g.101770497G>A | CA386303203 | GNPTAB | c.1022C>T (p.Pro341Leu) c.941C>T (p.Pro314Leu) c.806C>T (p.Pro269Leu) c.-206C>T (n.-206C>T) | |
12 | g.101770497G>C | CA386303205 | GNPTAB | c.1022C>G (p.Pro341Arg) c.941C>G (p.Pro314Arg) c.806C>G (p.Pro269Arg) c.-206C>G (n.-206C>G) | |
12 | g.101770497G>T | CA386303206 | GNPTAB | c.1022C>A (p.Pro341Gln) c.941C>A (p.Pro314Gln) c.806C>A (p.Pro269Gln) c.-206C>A (n.-206C>A) | |
12 | g.101770498dup | CA912973306 | GNPTAB | c.1022dup (p.Trp342MetfsTer20) c.941dup (p.Trp315MetfsTer20) c.806dup (p.Trp270MetfsTer20) c.-206dup (n.-206dup) | |
12 | g.101770498del | CA2695217212 | GNPTAB | c.1022del (p.Pro341HisfsTer18) c.941del (p.Pro314HisfsTer18) c.806del (p.Pro269HisfsTer18) c.-206del (n.-206del) | |
12 | g.101770497_101770498insTGCA | CA242462565 | GNPTAB | c.1021_1022insTGCA (p.Pro341LeufsTer22) c.940_941insTGCA (p.Pro314LeufsTer22) c.805_806insTGCA (p.Pro269LeufsTer22) c.-207_-206insTGCA (n.-207_-206insTGCA) | |
12 | g.101770498G>A | CA6746733 | GNPTAB | c.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 |
12 | g.101770498G>C | CA386303210 | GNPTAB | c.1021C>G (p.Pro341Ala) c.940C>G (p.Pro314Ala) c.805C>G (p.Pro269Ala) c.-207C>G (n.-207C>G) | |
12 | g.101770498G= | CA2058958009 | GNPTAB | c.1021C= (p.Pro341=) c.940C= (p.Pro314=) c.805C= (p.Pro269=) c.-207C= (n.-207C=) | |
12 | g.101770498G>T | CA386303211 | GNPTAB | c.1021C>A (p.Pro341Thr) c.940C>A (p.Pro314Thr) c.805C>A (p.Pro269Thr) c.-207C>A (n.-207C>A) | COSMIC COSMIC |
12 | g.101770499T>A | CA481320745 | GNPTAB | c.1020A>T (p.Ala340=) c.939A>T (p.Ala313=) c.804A>T (p.Ala268=) c.-208A>T (n.-208A>T) | |
12 | g.101770499T>C | CA481320743 | GNPTAB | c.1020A>G (p.Ala340=) c.939A>G (p.Ala313=) c.804A>G (p.Ala268=) c.-208A>G (n.-208A>G) | |
12 | g.101770499T>G | CA481320744 | GNPTAB | c.1020A>C (p.Ala340=) c.939A>C (p.Ala313=) c.804A>C (p.Ala268=) c.-208A>C (n.-208A>C) | |
12 | g.101770502_101770505dup | CA6746732 | GNPTAB | c.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 |
12 | g.101770500G>A | CA386303212 | GNPTAB | c.1019C>T (p.Ala340Val) c.938C>T (p.Ala313Val) c.803C>T (p.Ala268Val) c.-209C>T (n.-209C>T) | |
12 | g.101770500G>C | CA386303213 | GNPTAB | c.1019C>G (p.Ala340Gly) c.938C>G (p.Ala313Gly) c.803C>G (p.Ala268Gly) c.-209C>G (n.-209C>G) | |
12 | g.101770500G>T | CA386303214 | GNPTAB | c.1019C>A (p.Ala340Glu) c.938C>A (p.Ala313Glu) c.803C>A (p.Ala268Glu) c.-209C>A (n.-209C>A) | |
12 | g.101770501C>A | CA386303217 | GNPTAB | c.1018G>T (p.Ala340Ser) c.937G>T (p.Ala313Ser) c.802G>T (p.Ala268Ser) c.-210G>T (n.-210G>T) | |
12 | g.101770501C= | CA2058958010 | GNPTAB | c.1018G= (p.Ala340=) c.937G= (p.Ala313=) c.802G= (p.Ala268=) c.-210G= (n.-210G=) | |
12 | g.101770501C>G | CA386303216 | GNPTAB | c.1018G>C (p.Ala340Pro) c.937G>C (p.Ala313Pro) c.802G>C (p.Ala268Pro) c.-210G>C (n.-210G>C) | |
12 | g.101770501C>T | CA386303215 | GNPTAB | c.1018G>A (p.Ala340Thr) c.937G>A (p.Ala313Thr) c.802G>A (p.Ala268Thr) c.-210G>A (n.-210G>A) | dbSNP |
12 | g.101770502A>C | CA386303218 | GNPTAB | c.1017T>G (p.His339Gln) c.936T>G (p.His312Gln) c.801T>G (p.His267Gln) c.-211T>G (n.-211T>G) | |
12 | g.101770502A>G | CA481320746 | GNPTAB | c.1017T>C (p.His339=) c.936T>C (p.His312=) c.801T>C (p.His267=) c.-211T>C (n.-211T>C) | |
12 | g.101770502A>T | CA386303219 | GNPTAB | c.1017T>A (p.His339Gln) c.936T>A (p.His312Gln) c.801T>A (p.His267Gln) c.-211T>A (n.-211T>A) | |
12 | g.101770503T>A | CA386303220 | GNPTAB | c.1016A>T (p.His339Leu) c.935A>T (p.His312Leu) c.800A>T (p.His267Leu) c.-212A>T (n.-212A>T) | |
12 | g.101770503T>C | CA6746734 | GNPTAB | c.1016A>G (p.His339Arg) c.935A>G (p.His312Arg) c.800A>G (p.His267Arg) c.-212A>G (n.-212A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770503T>G | CA386303221 | GNPTAB | c.1016A>C (p.His339Pro) c.935A>C (p.His312Pro) c.800A>C (p.His267Pro) c.-212A>C (n.-212A>C) | |
12 | g.101770503T= | CA2058958011 | GNPTAB | c.1016A= (p.His339=) c.935A= (p.His312=) c.800A= (p.His267=) c.-212A= (n.-212A=) | |
12 | g.101770503dup | CA2695217213 | GNPTAB | c.1016dup (p.His339GlnfsTer23) c.935dup (p.His312GlnfsTer23) c.800dup (p.His267GlnfsTer23) c.-212dup (n.-212dup) | |
12 | g.101770504G>A | CA386303222 | GNPTAB | c.1015C>T (p.His339Tyr) c.934C>T (p.His312Tyr) c.799C>T (p.His267Tyr) c.-213C>T (n.-213C>T) | |
12 | g.101770504G>C | CA386303223 | GNPTAB | c.1015C>G (p.His339Asp) c.934C>G (p.His312Asp) c.799C>G (p.His267Asp) c.-213C>G (n.-213C>G) | |
12 | g.101770504G>T | CA386303224 | GNPTAB | c.1015C>A (p.His339Asn) c.934C>A (p.His312Asn) c.799C>A (p.His267Asn) c.-213C>A (n.-213C>A) | |
12 | g.101770505C>A | CA6746735 | GNPTAB | c.1014G>T (p.Arg338Ser) c.933G>T (p.Arg311Ser) c.798G>T (p.Arg266Ser) c.-214G>T (n.-214G>T) | dbSNP ExAC gnomAD v4 |
12 | g.101770505C= | CA2058958012 | GNPTAB | c.1014G= (p.Arg338=) c.933G= (p.Arg311=) c.798G= (p.Arg266=) c.-214G= (n.-214G=) | |
12 | g.101770505C>G | CA386303225 | GNPTAB | c.1014G>C (p.Arg338Ser) c.933G>C (p.Arg311Ser) c.798G>C (p.Arg266Ser) c.-214G>C (n.-214G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770505C>T | CA481320747 | GNPTAB | c.1014G>A (p.Arg338=) c.933G>A (p.Arg311=) c.798G>A (p.Arg266=) c.-214G>A (n.-214G>A) | |
12 | g.101770506C>A | CA386303226 | GNPTAB | c.1013G>T (p.Arg338Met) c.932G>T (p.Arg311Met) c.797G>T (p.Arg266Met) c.-215G>T (n.-215G>T) | |
12 | g.101770506C>G | CA386303227 | GNPTAB | c.1013G>C (p.Arg338Thr) c.932G>C (p.Arg311Thr) c.797G>C (p.Arg266Thr) c.-215G>C (n.-215G>C) | |
12 | g.101770506C>T | CA386303228 | GNPTAB | c.1013G>A (p.Arg338Lys) c.932G>A (p.Arg311Lys) c.797G>A (p.Arg266Lys) c.-215G>A (n.-215G>A) | |
12 | g.101770507T>A | CA386303230 | GNPTAB | c.1012A>T (p.Arg338Trp) c.931A>T (p.Arg311Trp) c.796A>T (p.Arg266Trp) c.-216A>T (n.-216A>T) | |
12 | g.101770507T>C | CA386303229 | GNPTAB | c.1012A>G (p.Arg338Gly) c.931A>G (p.Arg311Gly) c.796A>G (p.Arg266Gly) c.-216A>G (n.-216A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770507T>G | CA481320748 | GNPTAB | c.1012A>C (p.Arg338=) c.931A>C (p.Arg311=) c.796A>C (p.Arg266=) c.-216A>C (n.-216A>C) | |
12 | g.101770507T= | CA2058958013 | GNPTAB | c.1012A= (p.Arg338=) c.931A= (p.Arg311=) c.796A= (p.Arg266=) c.-216A= (n.-216A=) | |
12 | g.101770508del | CA2620452128 | GNPTAB | c.1011del (p.Arg338GlyfsTer21) c.930del (p.Arg311GlyfsTer21) c.795del (p.Arg266GlyfsTer21) c.-217del (n.-217del) | gnomAD v4 |
12 | g.101770508C>A | CA386303231 | GNPTAB | c.1011G>T (p.Glu337Asp) c.930G>T (p.Glu310Asp) c.795G>T (p.Glu265Asp) c.-217G>T (n.-217G>T) | |
12 | g.101770508C= | CA2058958014 | GNPTAB | c.1011G= (p.Glu337=) c.930G= (p.Glu310=) c.795G= (p.Glu265=) c.-217G= (n.-217G=) | |
12 | g.101770508C>G | CA6746736 | GNPTAB | c.1011G>C (p.Glu337Asp) c.930G>C (p.Glu310Asp) c.795G>C (p.Glu265Asp) c.-217G>C (n.-217G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770508C>T | CA481320749 | GNPTAB | c.1011G>A (p.Glu337=) c.930G>A (p.Glu310=) c.795G>A (p.Glu265=) c.-217G>A (n.-217G>A) | |
12 | g.101770509T>A | CA386303232 | GNPTAB | c.1010A>T (p.Glu337Val) c.929A>T (p.Glu310Val) c.794A>T (p.Glu265Val) c.-218A>T (n.-218A>T) | |
12 | g.101770509T>C | CA386303233 | GNPTAB | c.1010A>G (p.Glu337Gly) c.929A>G (p.Glu310Gly) c.794A>G (p.Glu265Gly) c.-218A>G (n.-218A>G) | |
12 | g.101770509T>G | CA386303234 | GNPTAB | c.1010A>C (p.Glu337Ala) c.929A>C (p.Glu310Ala) c.794A>C (p.Glu265Ala) c.-218A>C (n.-218A>C) | |
12 | g.101770510C>A | CA386303235 | GNPTAB | c.1009G>T (p.Glu337Ter) c.928G>T (p.Glu310Ter) c.793G>T (p.Glu265Ter) c.-219G>T (n.-219G>T) | |
12 | g.101770510C= | CA2058958015 | GNPTAB | c.1009G= (p.Glu337=) c.928G= (p.Glu310=) c.793G= (p.Glu265=) c.-219G= (n.-219G=) | |
12 | g.101770510C>G | CA6746737 | GNPTAB | c.1009G>C (p.Glu337Gln) c.928G>C (p.Glu310Gln) c.793G>C (p.Glu265Gln) c.-219G>C (n.-219G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770510C>T | CA386303236 | GNPTAB | c.1009G>A (p.Glu337Lys) c.928G>A (p.Glu310Lys) c.793G>A (p.Glu265Lys) c.-219G>A (n.-219G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770511G>A | CA6746738 | GNPTAB | c.1008C>T (p.Ile336=) c.927C>T (p.Ile309=) c.792C>T (p.Ile264=) c.-220C>T (n.-220C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770511G>C | CA242462613 | GNPTAB | c.1008C>G (p.Ile336Met) c.927C>G (p.Ile309Met) c.792C>G (p.Ile264Met) c.-220C>G (n.-220C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770511G= | CA2058958016 | GNPTAB | c.1008C= (p.Ile336=) c.927C= (p.Ile309=) c.792C= (p.Ile264=) c.-220C= (n.-220C=) | |
12 | g.101770511G>T | CA481320750 | GNPTAB | c.1008C>A (p.Ile336=) c.927C>A (p.Ile309=) c.792C>A (p.Ile264=) c.-220C>A (n.-220C>A) |