Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51916110_51916148dup | CA2580086498 | ACVRL1 | c.853_891dup (p.Thr297_Asp298insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.601_639dup (p.Thr213_Asp214insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) n.398_436dup c.1165_1203dup (p.Thr401_Asp402insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.128_166dup c.334_372dup (p.Thr124_Asp125insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) | ClinVar |
12 | g.51916133C>A | CA384902583 | ACVRL1 | c.876C>A (p.Asp292Glu) c.1146C>A (p.Asp382Glu) c.624C>A (p.Asp208Glu) n.421C>A c.1188C>A (p.Asp396Glu) c.151C>A c.357C>A (p.Asp119Glu) | gnomAD v4 |
12 | g.51916133C= | CA2036236965 | ACVRL1 | c.876C= (p.Asp292=) c.1146C= (p.Asp382=) c.624C= (p.Asp208=) n.421C= c.1188C= (p.Asp396=) c.151C= c.357C= (p.Asp119=) | |
12 | g.51916133C>G | CA384902576 | ACVRL1 | c.876C>G (p.Asp292Glu) c.1146C>G (p.Asp382Glu) c.624C>G (p.Asp208Glu) n.421C>G c.1188C>G (p.Asp396Glu) c.151C>G c.357C>G (p.Asp119Glu) | |
12 | g.51916133C>T | CA6573076 | ACVRL1 | c.876C>T (p.Asp292=) c.1146C>T (p.Asp382=) c.624C>T (p.Asp208=) n.421C>T c.1188C>T (p.Asp396=) c.151C>T c.357C>T (p.Asp119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916134G>A | CA6573077 | ACVRL1 | c.877G>A (p.Glu293Lys) c.1147G>A (p.Glu383Lys) c.625G>A (p.Glu209Lys) n.422G>A c.1189G>A (p.Glu397Lys) c.152G>A c.358G>A (p.Glu120Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.51916134G>C | CA384902586 | ACVRL1 | c.877G>C (p.Glu293Gln) c.1147G>C (p.Glu383Gln) c.625G>C (p.Glu209Gln) n.422G>C c.1189G>C (p.Glu397Gln) c.152G>C c.358G>C (p.Glu120Gln) | dbSNP gnomAD v4 |
12 | g.51916134G= | CA2036236971 | ACVRL1 | c.877G= (p.Glu293=) c.1147G= (p.Glu383=) c.625G= (p.Glu209=) n.422G= c.1189G= (p.Glu397=) c.152G= c.358G= (p.Glu120=) | |
12 | g.51916134G>T | CA384902589 | ACVRL1 | c.877G>T (p.Glu293Ter) c.1147G>T (p.Glu383Ter) c.625G>T (p.Glu209Ter) n.422G>T c.1189G>T (p.Glu397Ter) c.152G>T c.358G>T (p.Glu120Ter) | ClinVar dbSNP |
12 | g.51916135A>C | CA384902590 | ACVRL1 | c.878A>C (p.Glu293Ala) c.1148A>C (p.Glu383Ala) c.626A>C (p.Glu209Ala) n.423A>C c.1190A>C (p.Glu397Ala) c.153A>C c.359A>C (p.Glu120Ala) | |
12 | g.51916135A>G | CA384902591 | ACVRL1 | c.878A>G (p.Glu293Gly) c.1148A>G (p.Glu383Gly) c.626A>G (p.Glu209Gly) n.423A>G c.1190A>G (p.Glu397Gly) c.153A>G c.359A>G (p.Glu120Gly) | |
12 | g.51916135A>T | CA384902601 | ACVRL1 | c.878A>T (p.Glu293Val) c.1148A>T (p.Glu383Val) c.626A>T (p.Glu209Val) n.423A>T c.1190A>T (p.Glu397Val) c.153A>T c.359A>T (p.Glu120Val) | |
12 | g.51916136G>A | CA6573078 | ACVRL1 | c.879G>A (p.Glu293=) c.1149G>A (p.Glu383=) c.627G>A (p.Glu209=) n.424G>A c.1191G>A (p.Glu397=) c.154G>A c.360G>A (p.Glu120=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.51916136G>C | CA384902607 | ACVRL1 | c.879G>C (p.Glu293Asp) c.1149G>C (p.Glu383Asp) c.627G>C (p.Glu209Asp) n.424G>C c.1191G>C (p.Glu397Asp) c.154G>C c.360G>C (p.Glu120Asp) | |
12 | g.51916136G= | CA2036236978 | ACVRL1 | c.879G= (p.Glu293=) c.1149G= (p.Glu383=) c.627G= (p.Glu209=) n.424G= c.1191G= (p.Glu397=) c.154G= c.360G= (p.Glu120=) | |
12 | g.51916136G>T | CA384902611 | ACVRL1 | c.879G>T (p.Glu293Asp) c.1149G>T (p.Glu383Asp) c.627G>T (p.Glu209Asp) n.424G>T c.1191G>T (p.Glu397Asp) c.154G>T c.360G>T (p.Glu120Asp) | |
12 | g.51916137C>A | CA384902614 | ACVRL1 | c.880C>A (p.Gln294Lys) c.1150C>A (p.Gln384Lys) c.628C>A (p.Gln210Lys) n.425C>A c.1192C>A (p.Gln398Lys) c.155C>A c.361C>A (p.Gln121Lys) | COSMIC COSMIC |
12 | g.51916137C>G | CA384902617 | ACVRL1 | c.880C>G (p.Gln294Glu) c.1150C>G (p.Gln384Glu) c.628C>G (p.Gln210Glu) n.425C>G c.1192C>G (p.Gln398Glu) c.155C>G c.361C>G (p.Gln121Glu) | |
12 | g.51916137C>T | CA384902619 | ACVRL1 | c.880C>T (p.Gln294Ter) c.1150C>T (p.Gln384Ter) c.628C>T (p.Gln210Ter) n.425C>T c.1192C>T (p.Gln398Ter) c.155C>T c.361C>T (p.Gln121Ter) | |
12 | g.51916138A= | CA2036236980 | ACVRL1 | c.881A= (p.Gln294=) c.1151A= (p.Gln384=) c.629A= (p.Gln210=) n.426A= c.1193A= (p.Gln398=) c.156A= c.362A= (p.Gln121=) | |
12 | g.51916138A>C | CA384902622 | ACVRL1 | c.881A>C (p.Gln294Pro) c.1151A>C (p.Gln384Pro) c.629A>C (p.Gln210Pro) n.426A>C c.1193A>C (p.Gln398Pro) c.156A>C c.362A>C (p.Gln121Pro) | |
12 | g.51916138A>G | CA384902624 | ACVRL1 | c.881A>G (p.Gln294Arg) c.1151A>G (p.Gln384Arg) c.629A>G (p.Gln210Arg) n.426A>G c.1193A>G (p.Gln398Arg) c.156A>G c.362A>G (p.Gln121Arg) | dbSNP gnomAD v4 |
12 | g.51916138A>T | CA384902623 | ACVRL1 | c.881A>T (p.Gln294Leu) c.1151A>T (p.Gln384Leu) c.629A>T (p.Gln210Leu) n.426A>T c.1193A>T (p.Gln398Leu) c.156A>T c.362A>T (p.Gln121Leu) | |
12 | g.51916139G>A | CA479810857 | ACVRL1 | c.882G>A (p.Gln294=) c.1152G>A (p.Gln384=) c.630G>A (p.Gln210=) n.427G>A c.1194G>A (p.Gln398=) c.157G>A c.363G>A (p.Gln121=) | dbSNP COSMIC COSMIC |
12 | g.51916139G>C | CA384902625 | ACVRL1 | c.882G>C (p.Gln294His) c.1152G>C (p.Gln384His) c.630G>C (p.Gln210His) n.427G>C c.1194G>C (p.Gln398His) c.157G>C c.363G>C (p.Gln121His) | |
12 | g.51916139G>T | CA384902626 | ACVRL1 | c.882G>T (p.Gln294His) c.1152G>T (p.Gln384His) c.630G>T (p.Gln210His) n.427G>T c.1194G>T (p.Gln398His) c.157G>T c.363G>T (p.Gln121His) | |
12 | g.51916140_51916144dup | CA916081671 | ACVRL1 | c.883_887dup (p.Thr297SerfsTer30) c.1153_1157dup (p.Thr387SerfsTer30) c.631_635dup (p.Thr213SerfsTer30) n.428_432dup c.1195_1199dup (p.Thr401SerfsTer30) c.158_162dup c.364_368dup (p.Thr124SerfsTer30) | ClinVar dbSNP |
12 | g.51916140A= | CA2036236989 | ACVRL1 | c.883A= (p.Ile295=) c.1153A= (p.Ile385=) c.631A= (p.Ile211=) n.428A= c.1195A= (p.Ile399=) c.158A= c.364A= (p.Ile122=) | |
12 | g.51916140A>C | CA384902628 | ACVRL1 | c.883A>C (p.Ile295Leu) c.1153A>C (p.Ile385Leu) c.631A>C (p.Ile211Leu) n.428A>C c.1195A>C (p.Ile399Leu) c.158A>C c.364A>C (p.Ile122Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51916140A>G | CA384902630 | ACVRL1 | c.883A>G (p.Ile295Val) c.1153A>G (p.Ile385Val) c.631A>G (p.Ile211Val) n.428A>G c.1195A>G (p.Ile399Val) c.158A>G c.364A>G (p.Ile122Val) | |
12 | g.51916140A>T | CA384902633 | ACVRL1 | c.883A>T (p.Ile295Phe) c.1153A>T (p.Ile385Phe) c.631A>T (p.Ile211Phe) n.428A>T c.1195A>T (p.Ile399Phe) c.158A>T c.364A>T (p.Ile122Phe) | COSMIC COSMIC |
12 | g.51916141T>A | CA384902637 | ACVRL1 | c.884T>A (p.Ile295Asn) c.1154T>A (p.Ile385Asn) c.632T>A (p.Ile211Asn) n.429T>A c.1196T>A (p.Ile399Asn) c.159T>A c.365T>A (p.Ile122Asn) | |
12 | g.51916141T>C | CA384902638 | ACVRL1 | c.884T>C (p.Ile295Thr) c.1154T>C (p.Ile385Thr) c.632T>C (p.Ile211Thr) n.429T>C c.1196T>C (p.Ile399Thr) c.159T>C c.365T>C (p.Ile122Thr) | gnomAD v4 |
12 | g.51916141T>G | CA384902641 | ACVRL1 | c.884T>G (p.Ile295Ser) c.1154T>G (p.Ile385Ser) c.632T>G (p.Ile211Ser) n.429T>G c.1196T>G (p.Ile399Ser) c.159T>G c.365T>G (p.Ile122Ser) | |
12 | g.51916142C>A | CA479810895 | ACVRL1 | c.885C>A (p.Ile295=) c.1155C>A (p.Ile385=) c.633C>A (p.Ile211=) n.430C>A c.1197C>A (p.Ile399=) c.160C>A c.366C>A (p.Ile122=) | |
12 | g.51916142C= | CA2036236992 | ACVRL1 | c.885C= (p.Ile295=) c.1155C= (p.Ile385=) c.633C= (p.Ile211=) n.430C= c.1197C= (p.Ile399=) c.160C= c.366C= (p.Ile122=) | |
12 | g.51916142C>G | CA384902644 | ACVRL1 | c.885C>G (p.Ile295Met) c.1155C>G (p.Ile385Met) c.633C>G (p.Ile211Met) n.430C>G c.1197C>G (p.Ile399Met) c.160C>G c.366C>G (p.Ile122Met) | |
12 | g.51916142C>T | CA479810899 | ACVRL1 | c.885C>T (p.Ile295=) c.1155C>T (p.Ile385=) c.633C>T (p.Ile211=) n.430C>T c.1197C>T (p.Ile399=) c.160C>T c.366C>T (p.Ile122=) | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51916143C>A | CA384902650 | ACVRL1 | c.886C>A (p.Arg296Ser) c.1156C>A (p.Arg386Ser) c.634C>A (p.Arg212Ser) n.431C>A c.1198C>A (p.Arg400Ser) c.161C>A c.367C>A (p.Arg123Ser) | |
12 | g.51916143C= | CA2036236994 | ACVRL1 | c.886C= (p.Arg296=) c.1156C= (p.Arg386=) c.634C= (p.Arg212=) n.431C= c.1198C= (p.Arg400=) c.161C= c.367C= (p.Arg123=) | |
12 | g.51916143C>G | CA384902652 | ACVRL1 | c.886C>G (p.Arg296Gly) c.1156C>G (p.Arg386Gly) c.634C>G (p.Arg212Gly) n.431C>G c.1198C>G (p.Arg400Gly) c.161C>G c.367C>G (p.Arg123Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51916143C>T | CA384902654 | ACVRL1 | c.886C>T (p.Arg296Cys) c.1156C>T (p.Arg386Cys) c.634C>T (p.Arg212Cys) n.431C>T c.1198C>T (p.Arg400Cys) c.161C>T c.367C>T (p.Arg123Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51916144G>A | CA211329 | ACVRL1 | c.887G>A (p.Arg296His) c.1157G>A (p.Arg386His) c.635G>A (p.Arg212His) n.432G>A c.1199G>A (p.Arg400His) c.162G>A c.368G>A (p.Arg123His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916144G>C | CA384902655 | ACVRL1 | c.887G>C (p.Arg296Pro) c.1157G>C (p.Arg386Pro) c.635G>C (p.Arg212Pro) n.432G>C c.1199G>C (p.Arg400Pro) c.162G>C c.368G>C (p.Arg123Pro) | |
12 | g.51916144G= | CA2036236998 | ACVRL1 | c.887G= (p.Arg296=) c.1157G= (p.Arg386=) c.635G= (p.Arg212=) n.432G= c.1199G= (p.Arg400=) c.162G= c.368G= (p.Arg123=) | |
12 | g.51916144G>T | CA384902657 | ACVRL1 | c.887G>T (p.Arg296Leu) c.1157G>T (p.Arg386Leu) c.635G>T (p.Arg212Leu) n.432G>T c.1199G>T (p.Arg400Leu) c.162G>T c.368G>T (p.Arg123Leu) | |
12 | g.51916145C>A | CA479810927 | ACVRL1 | c.888C>A (p.Arg296=) c.1158C>A (p.Arg386=) c.636C>A (p.Arg212=) n.433C>A c.1200C>A (p.Arg400=) c.163C>A c.369C>A (p.Arg123=) | |
12 | g.51916145C>G | CA479810924 | ACVRL1 | c.888C>G (p.Arg296=) c.1158C>G (p.Arg386=) c.636C>G (p.Arg212=) n.433C>G c.1200C>G (p.Arg400=) c.163C>G c.369C>G (p.Arg123=) | |
12 | g.51916145C>T | CA479810920 | ACVRL1 | c.888C>T (p.Arg296=) c.1158C>T (p.Arg386=) c.636C>T (p.Arg212=) n.433C>T c.1200C>T (p.Arg400=) c.163C>T c.369C>T (p.Arg123=) | gnomAD v4 |
12 | g.51916146A= | CA2036237000 | ACVRL1 | c.889A= (p.Thr297=) c.1159A= (p.Thr387=) c.637A= (p.Thr213=) n.434A= c.1201A= (p.Thr401=) c.164A= c.370A= (p.Thr124=) | |
12 | g.51916146A>C | CA384902662 | ACVRL1 | c.889A>C (p.Thr297Pro) c.1159A>C (p.Thr387Pro) c.637A>C (p.Thr213Pro) n.434A>C c.1201A>C (p.Thr401Pro) c.164A>C c.370A>C (p.Thr124Pro) | |
12 | g.51916146A>G | CA384902665 | ACVRL1 | c.889A>G (p.Thr297Ala) c.1159A>G (p.Thr387Ala) c.637A>G (p.Thr213Ala) n.434A>G c.1201A>G (p.Thr401Ala) c.164A>G c.370A>G (p.Thr124Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51916146A>T | CA384902667 | ACVRL1 | c.889A>T (p.Thr297Ser) c.1159A>T (p.Thr387Ser) c.637A>T (p.Thr213Ser) n.434A>T c.1201A>T (p.Thr401Ser) c.164A>T c.370A>T (p.Thr124Ser) | |
12 | g.51916147C>A | CA384902670 | ACVRL1 | c.890C>A (p.Thr297Lys) c.1160C>A (p.Thr387Lys) c.638C>A (p.Thr213Lys) n.435C>A c.1202C>A (p.Thr401Lys) c.165C>A c.371C>A (p.Thr124Lys) | |
12 | g.51916147C= | CA2036237002 | ACVRL1 | c.890C= (p.Thr297=) c.1160C= (p.Thr387=) c.638C= (p.Thr213=) n.435C= c.1202C= (p.Thr401=) c.165C= c.371C= (p.Thr124=) | |
12 | g.51916147C>G | CA384902673 | ACVRL1 | c.890C>G (p.Thr297Arg) c.1160C>G (p.Thr387Arg) c.638C>G (p.Thr213Arg) n.435C>G c.1202C>G (p.Thr401Arg) c.165C>G c.371C>G (p.Thr124Arg) | |
12 | g.51916147C>T | CA6573079 | ACVRL1 | c.890C>T (p.Thr297Met) c.1160C>T (p.Thr387Met) c.638C>T (p.Thr213Met) n.435C>T c.1202C>T (p.Thr401Met) c.165C>T c.371C>T (p.Thr124Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916148G>A | CA6573080 | ACVRL1 | c.891G>A (p.Thr297=) c.1161G>A (p.Thr387=) c.639G>A (p.Thr213=) n.436G>A c.1203G>A (p.Thr401=) c.166G>A c.372G>A (p.Thr124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916148G>C | CA479810957 | ACVRL1 | c.891G>C (p.Thr297=) c.1161G>C (p.Thr387=) c.639G>C (p.Thr213=) n.436G>C c.1203G>C (p.Thr401=) c.166G>C c.372G>C (p.Thr124=) | ClinVar gnomAD v4 |
12 | g.51916148G= | CA2036237006 | ACVRL1 | c.891G= (p.Thr297=) c.1161G= (p.Thr387=) c.639G= (p.Thr213=) n.436G= c.1203G= (p.Thr401=) c.166G= c.372G= (p.Thr124=) | |
12 | g.51916148G>T | CA479810953 | ACVRL1 | c.891G>T (p.Thr297=) c.1161G>T (p.Thr387=) c.639G>T (p.Thr213=) n.436G>T c.1203G>T (p.Thr401=) c.166G>T c.372G>T (p.Thr124=) | |
12 | g.51916149G>A | CA384902682 | ACVRL1 | c.892G>A (p.Asp298Asn) c.1162G>A (p.Asp388Asn) c.640G>A (p.Asp214Asn) n.437G>A c.1204G>A (p.Asp402Asn) c.167G>A c.373G>A (p.Asp125Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916149G>C | CA384902684 | ACVRL1 | c.892G>C (p.Asp298His) c.1162G>C (p.Asp388His) c.640G>C (p.Asp214His) n.437G>C c.1204G>C (p.Asp402His) c.167G>C c.373G>C (p.Asp125His) | |
12 | g.51916149G= | CA2036237010 | ACVRL1 | c.892G= (p.Asp298=) c.1162G= (p.Asp388=) c.640G= (p.Asp214=) n.437G= c.1204G= (p.Asp402=) c.167G= c.373G= (p.Asp125=) | |
12 | g.51916149G>T | CA384902687 | ACVRL1 | c.892G>T (p.Asp298Tyr) c.1162G>T (p.Asp388Tyr) c.640G>T (p.Asp214Tyr) n.437G>T c.1204G>T (p.Asp402Tyr) c.167G>T c.373G>T (p.Asp125Tyr) | |
12 | g.51916149_51916164delinsGACTGCTTTGAGTCCT | CA2036237009 | ACVRL1 | c.892_907delinsGACTGCTTTGAGTCCT (p.Asp298=) c.1162_1177delinsGACTGCTTTGAGTCCT (p.Asp388=) c.640_655delinsGACTGCTTTGAGTCCT (p.Asp214=) n.437_452delinsGACTGCTTTGAGTCCT c.1204_1219delinsGACTGCTTTGAGTCCT (p.Asp402=) c.167_182delinsGACTGCTTTGAGTCCT c.373_388delinsGACTGCTTTGAGTCCT (p.Asp125=) | |
12 | g.51916150A= | CA2036237015 | ACVRL1 | c.893A= (p.Asp298=) c.1163A= (p.Asp388=) c.641A= (p.Asp214=) n.438A= c.1205A= (p.Asp402=) c.168A= c.374A= (p.Asp125=) | |
12 | g.51916150A>C | CA384902695 | ACVRL1 | c.893A>C (p.Asp298Ala) c.1163A>C (p.Asp388Ala) c.641A>C (p.Asp214Ala) n.438A>C c.1205A>C (p.Asp402Ala) c.168A>C c.374A>C (p.Asp125Ala) | |
12 | g.51916150A>G | CA384902692 | ACVRL1 | c.893A>G (p.Asp298Gly) c.1163A>G (p.Asp388Gly) c.641A>G (p.Asp214Gly) n.438A>G c.1205A>G (p.Asp402Gly) c.168A>G c.374A>G (p.Asp125Gly) | ClinVar dbSNP |
12 | g.51916150A>T | CA384902690 | ACVRL1 | c.893A>T (p.Asp298Val) c.1163A>T (p.Asp388Val) c.641A>T (p.Asp214Val) n.438A>T c.1205A>T (p.Asp402Val) c.168A>T c.374A>T (p.Asp125Val) | |
12 | g.51916152_51916166del | CA916081672 | ACVRL1 | c.895_909del (p.Cys299_Tyr303del) c.1165_1179del (p.Cys389_Tyr393del) c.643_657del (p.Cys215_Tyr219del) n.440_454del c.1207_1221del (p.Cys403_Tyr407del) c.170_184del c.376_390del (p.Cys126_Tyr130del) | ClinVar dbSNP |
12 | g.51916151C>A | CA6573081 | ACVRL1 | c.894C>A (p.Asp298Glu) c.1164C>A (p.Asp388Glu) c.642C>A (p.Asp214Glu) n.439C>A c.1206C>A (p.Asp402Glu) c.169C>A c.375C>A (p.Asp125Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51916151C= | CA2036237019 | ACVRL1 | c.894C= (p.Asp298=) c.1164C= (p.Asp388=) c.642C= (p.Asp214=) n.439C= c.1206C= (p.Asp402=) c.169C= c.375C= (p.Asp125=) | |
12 | g.51916151C>G | CA384902696 | ACVRL1 | c.894C>G (p.Asp298Glu) c.1164C>G (p.Asp388Glu) c.642C>G (p.Asp214Glu) n.439C>G c.1206C>G (p.Asp402Glu) c.169C>G c.375C>G (p.Asp125Glu) | |
12 | g.51916151C>T | CA479811006 | ACVRL1 | c.894C>T (p.Asp298=) c.1164C>T (p.Asp388=) c.642C>T (p.Asp214=) n.439C>T c.1206C>T (p.Asp402=) c.169C>T c.375C>T (p.Asp125=) | |
12 | g.51916152T>A | CA384902697 | ACVRL1 | c.895T>A (p.Cys299Ser) c.1165T>A (p.Cys389Ser) c.643T>A (p.Cys215Ser) n.440T>A c.1207T>A (p.Cys403Ser) c.170T>A c.376T>A (p.Cys126Ser) | |
12 | g.51916152T>C | CA236364959 | ACVRL1 | c.895T>C (p.Cys299Arg) c.1165T>C (p.Cys389Arg) c.643T>C (p.Cys215Arg) n.440T>C c.1207T>C (p.Cys403Arg) c.170T>C c.376T>C (p.Cys126Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51916152T>G | CA384902700 | ACVRL1 | c.895T>G (p.Cys299Gly) c.1165T>G (p.Cys389Gly) c.643T>G (p.Cys215Gly) n.440T>G c.1207T>G (p.Cys403Gly) c.170T>G c.376T>G (p.Cys126Gly) | gnomAD v4 |
12 | g.51916152T= | CA2036237022 | ACVRL1 | c.895T= (p.Cys299=) c.1165T= (p.Cys389=) c.643T= (p.Cys215=) n.440T= c.1207T= (p.Cys403=) c.170T= c.376T= (p.Cys126=) | |
12 | g.51916153G>A | CA384902705 | ACVRL1 | c.896G>A (p.Cys299Tyr) c.1166G>A (p.Cys389Tyr) c.644G>A (p.Cys215Tyr) n.441G>A c.1208G>A (p.Cys403Tyr) c.171G>A c.377G>A (p.Cys126Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916153G>C | CA384902707 | ACVRL1 | c.896G>C (p.Cys299Ser) c.1166G>C (p.Cys389Ser) c.644G>C (p.Cys215Ser) n.441G>C c.1208G>C (p.Cys403Ser) c.171G>C c.377G>C (p.Cys126Ser) | |
12 | g.51916153G= | CA2036237024 | ACVRL1 | c.896G= (p.Cys299=) c.1166G= (p.Cys389=) c.644G= (p.Cys215=) n.441G= c.1208G= (p.Cys403=) c.171G= c.377G= (p.Cys126=) | |
12 | g.51916153G>T | CA384902709 | ACVRL1 | c.896G>T (p.Cys299Phe) c.1166G>T (p.Cys389Phe) c.644G>T (p.Cys215Phe) n.441G>T c.1208G>T (p.Cys403Phe) c.171G>T c.377G>T (p.Cys126Phe) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51916154C>A | CA384902710 | ACVRL1 | c.897C>A (p.Cys299Ter) c.1167C>A (p.Cys389Ter) c.645C>A (p.Cys215Ter) n.442C>A c.1209C>A (p.Cys403Ter) c.172C>A c.378C>A (p.Cys126Ter) | dbSNP |
12 | g.51916154C= | CA2036237029 | ACVRL1 | c.897C= (p.Cys299=) c.1167C= (p.Cys389=) c.645C= (p.Cys215=) n.442C= c.1209C= (p.Cys403=) c.172C= c.378C= (p.Cys126=) | |
12 | g.51916154C>G | CA384902711 | ACVRL1 | c.897C>G (p.Cys299Trp) c.1167C>G (p.Cys389Trp) c.645C>G (p.Cys215Trp) n.442C>G c.1209C>G (p.Cys403Trp) c.172C>G c.378C>G (p.Cys126Trp) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51916154C>T | CA479811036 | ACVRL1 | c.897C>T (p.Cys299=) c.1167C>T (p.Cys389=) c.645C>T (p.Cys215=) n.442C>T c.1209C>T (p.Cys403=) c.172C>T c.378C>T (p.Cys126=) | COSMIC |
12 | g.51916155T>A | CA384902712 | ACVRL1 | c.898T>A (p.Phe300Ile) c.1168T>A (p.Phe390Ile) c.646T>A (p.Phe216Ile) n.443T>A c.1210T>A (p.Phe404Ile) c.173T>A c.379T>A (p.Phe127Ile) | |
12 | g.51916155T>C | CA384902713 | ACVRL1 | c.898T>C (p.Phe300Leu) c.1168T>C (p.Phe390Leu) c.646T>C (p.Phe216Leu) n.443T>C c.1210T>C (p.Phe404Leu) c.173T>C c.379T>C (p.Phe127Leu) | |
12 | g.51916155T>G | CA384902714 | ACVRL1 | c.898T>G (p.Phe300Val) c.1168T>G (p.Phe390Val) c.646T>G (p.Phe216Val) n.443T>G c.1210T>G (p.Phe404Val) c.173T>G c.379T>G (p.Phe127Val) | COSMIC COSMIC |
12 | g.51916156T>A | CA384902718 | ACVRL1 | c.899T>A (p.Phe300Tyr) c.1169T>A (p.Phe390Tyr) c.647T>A (p.Phe216Tyr) n.444T>A c.1211T>A (p.Phe404Tyr) c.174T>A c.380T>A (p.Phe127Tyr) | |
12 | g.51916156T>C | CA384902716 | ACVRL1 | c.899T>C (p.Phe300Ser) c.1169T>C (p.Phe390Ser) c.647T>C (p.Phe216Ser) n.444T>C c.1211T>C (p.Phe404Ser) c.174T>C c.380T>C (p.Phe127Ser) | |
12 | g.51916156T>G | CA384902717 | ACVRL1 | c.899T>G (p.Phe300Cys) c.1169T>G (p.Phe390Cys) c.647T>G (p.Phe216Cys) n.444T>G c.1211T>G (p.Phe404Cys) c.174T>G c.380T>G (p.Phe127Cys) | |
12 | g.51916157T>A | CA384902720 | ACVRL1 | c.900T>A (p.Phe300Leu) c.1170T>A (p.Phe390Leu) c.648T>A (p.Phe216Leu) n.445T>A c.1212T>A (p.Phe404Leu) c.175T>A c.381T>A (p.Phe127Leu) | |
12 | g.51916157T>C | CA479811064 | ACVRL1 | c.900T>C (p.Phe300=) c.1170T>C (p.Phe390=) c.648T>C (p.Phe216=) n.445T>C c.1212T>C (p.Phe404=) c.175T>C c.381T>C (p.Phe127=) | |
12 | g.51916157T>G | CA384902721 | ACVRL1 | c.900T>G (p.Phe300Leu) c.1170T>G (p.Phe390Leu) c.648T>G (p.Phe216Leu) n.445T>G c.1212T>G (p.Phe404Leu) c.175T>G c.381T>G (p.Phe127Leu) | |
12 | g.51916158G>A | CA384902723 | ACVRL1 | c.901G>A (p.Glu301Lys) c.1171G>A (p.Glu391Lys) c.649G>A (p.Glu217Lys) n.446G>A c.1213G>A (p.Glu405Lys) c.176G>A c.382G>A (p.Glu128Lys) | |
12 | g.51916158G>C | CA384902725 | ACVRL1 | c.901G>C (p.Glu301Gln) c.1171G>C (p.Glu391Gln) c.649G>C (p.Glu217Gln) n.446G>C c.1213G>C (p.Glu405Gln) c.176G>C c.382G>C (p.Glu128Gln) | |
12 | g.51916158G= | CA2036237034 | ACVRL1 | c.901G= (p.Glu301=) c.1171G= (p.Glu391=) c.649G= (p.Glu217=) n.446G= c.1213G= (p.Glu405=) c.176G= c.382G= (p.Glu128=) | |
12 | g.51916158G>T | CA384902726 | ACVRL1 | c.901G>T (p.Glu301Ter) c.1171G>T (p.Glu391Ter) c.649G>T (p.Glu217Ter) n.446G>T c.1213G>T (p.Glu405Ter) c.176G>T c.382G>T (p.Glu128Ter) | ClinVar dbSNP |
12 | g.51916159A>C | CA384902729 | ACVRL1 | c.902A>C (p.Glu301Ala) c.1172A>C (p.Glu391Ala) c.650A>C (p.Glu217Ala) n.447A>C c.1214A>C (p.Glu405Ala) c.177A>C c.383A>C (p.Glu128Ala) | |
12 | g.51916159A>G | CA384902732 | ACVRL1 | c.902A>G (p.Glu301Gly) c.1172A>G (p.Glu391Gly) c.650A>G (p.Glu217Gly) n.447A>G c.1214A>G (p.Glu405Gly) c.177A>G c.383A>G (p.Glu128Gly) | gnomAD v4 |
12 | g.51916159A>T | CA384902733 | ACVRL1 | c.902A>T (p.Glu301Val) c.1172A>T (p.Glu391Val) c.650A>T (p.Glu217Val) n.447A>T c.1214A>T (p.Glu405Val) c.177A>T c.383A>T (p.Glu128Val) | |
12 | g.51916160G>A | CA6573082 | ACVRL1 | c.903G>A (p.Glu301=) c.1173G>A (p.Glu391=) c.651G>A (p.Glu217=) n.448G>A c.1215G>A (p.Glu405=) c.178G>A c.384G>A (p.Glu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916160G>C | CA384902737 | ACVRL1 | c.903G>C (p.Glu301Asp) c.1173G>C (p.Glu391Asp) c.651G>C (p.Glu217Asp) n.448G>C c.1215G>C (p.Glu405Asp) c.178G>C c.384G>C (p.Glu128Asp) | |
12 | g.51916160G= | CA2036237038 | ACVRL1 | c.903G= (p.Glu301=) c.1173G= (p.Glu391=) c.651G= (p.Glu217=) n.448G= c.1215G= (p.Glu405=) c.178G= c.384G= (p.Glu128=) | |
12 | g.51916160G>T | CA384902739 | ACVRL1 | c.903G>T (p.Glu301Asp) c.1173G>T (p.Glu391Asp) c.651G>T (p.Glu217Asp) n.448G>T c.1215G>T (p.Glu405Asp) c.178G>T c.384G>T (p.Glu128Asp) | |
12 | g.51916161T>A | CA384902744 | ACVRL1 | c.904T>A (p.Ser302Thr) c.1174T>A (p.Ser392Thr) c.652T>A (p.Ser218Thr) n.449T>A c.1216T>A (p.Ser406Thr) c.179T>A c.385T>A (p.Ser129Thr) | |
12 | g.51916161T>C | CA384902747 | ACVRL1 | c.904T>C (p.Ser302Pro) c.1174T>C (p.Ser392Pro) c.652T>C (p.Ser218Pro) n.449T>C c.1216T>C (p.Ser406Pro) c.179T>C c.385T>C (p.Ser129Pro) | |
12 | g.51916161T>G | CA384902741 | ACVRL1 | c.904T>G (p.Ser302Ala) c.1174T>G (p.Ser392Ala) c.652T>G (p.Ser218Ala) n.449T>G c.1216T>G (p.Ser406Ala) c.179T>G c.385T>G (p.Ser129Ala) | |
12 | g.51916162C>A | CA384902756 | ACVRL1 | c.905C>A (p.Ser302Tyr) c.1175C>A (p.Ser392Tyr) c.653C>A (p.Ser218Tyr) n.450C>A c.1217C>A (p.Ser406Tyr) c.180C>A c.386C>A (p.Ser129Tyr) | |
12 | g.51916162C>G | CA384902758 | ACVRL1 | c.905C>G (p.Ser302Cys) c.1175C>G (p.Ser392Cys) c.653C>G (p.Ser218Cys) n.450C>G c.1217C>G (p.Ser406Cys) c.180C>G c.386C>G (p.Ser129Cys) | |
12 | g.51916162C>T | CA384902760 | ACVRL1 | c.905C>T (p.Ser302Phe) c.1175C>T (p.Ser392Phe) c.653C>T (p.Ser218Phe) n.450C>T c.1217C>T (p.Ser406Phe) c.180C>T c.386C>T (p.Ser129Phe) | |
12 | g.51916163dup | CA2842769030 | ACVRL1 | c.906dup (p.Tyr303LeufsTer5) c.1176dup (p.Tyr393LeufsTer5) c.654dup (p.Tyr219LeufsTer5) n.451dup c.1218dup (p.Tyr407LeufsTer5) c.181dup c.387dup (p.Tyr130LeufsTer5) | |
12 | g.51916163C>A | CA479811106 | ACVRL1 | c.906C>A (p.Ser302=) c.1176C>A (p.Ser392=) c.654C>A (p.Ser218=) n.451C>A c.1218C>A (p.Ser406=) c.181C>A c.387C>A (p.Ser129=) | |
12 | g.51916163C>G | CA479811112 | ACVRL1 | c.906C>G (p.Ser302=) c.1176C>G (p.Ser392=) c.654C>G (p.Ser218=) n.451C>G c.1218C>G (p.Ser406=) c.181C>G c.387C>G (p.Ser129=) | |
12 | g.51916163C>T | CA479811111 | ACVRL1 | c.906C>T (p.Ser302=) c.1176C>T (p.Ser392=) c.654C>T (p.Ser218=) n.451C>T c.1218C>T (p.Ser406=) c.181C>T c.387C>T (p.Ser129=) | gnomAD v4 |
12 | g.51916164T>A | CA384902762 | ACVRL1 | c.907T>A (p.Tyr303Asn) c.1177T>A (p.Tyr393Asn) c.655T>A (p.Tyr219Asn) n.452T>A c.1219T>A (p.Tyr407Asn) c.182T>A c.388T>A (p.Tyr130Asn) | |
12 | g.51916164T>C | CA6573083 | ACVRL1 | c.907T>C (p.Tyr303His) c.1177T>C (p.Tyr393His) c.655T>C (p.Tyr219His) n.452T>C c.1219T>C (p.Tyr407His) c.182T>C c.388T>C (p.Tyr130His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916164T>G | CA384902765 | ACVRL1 | c.907T>G (p.Tyr303Asp) c.1177T>G (p.Tyr393Asp) c.655T>G (p.Tyr219Asp) n.452T>G c.1219T>G (p.Tyr407Asp) c.182T>G c.388T>G (p.Tyr130Asp) | |
12 | g.51916164T= | CA2036237044 | ACVRL1 | c.907T= (p.Tyr303=) c.1177T= (p.Tyr393=) c.655T= (p.Tyr219=) n.452T= c.1219T= (p.Tyr407=) c.182T= c.388T= (p.Tyr130=) | |
12 | g.51916164_51916166delinsCAA | CA891843497 | ACVRL1 | c.907_909delinsCAA (p.Tyr303Gln) c.1177_1179delinsCAA (p.Tyr393Gln) c.655_657delinsCAA (p.Tyr219Gln) n.452_454delinsCAA c.1219_1221delinsCAA (p.Tyr407Gln) c.182_184delinsCAA c.388_390delinsCAA (p.Tyr130Gln) | ClinVar dbSNP |
12 | g.51916164_51916166delinsTAC | CA2036237046 | ACVRL1 | c.907_909delinsTAC (p.Tyr303=) c.1177_1179delinsTAC (p.Tyr393=) c.655_657delinsTAC (p.Tyr219=) n.452_454delinsTAC c.1219_1221delinsTAC (p.Tyr407=) c.182_184delinsTAC c.388_390delinsTAC (p.Tyr130=) | |
12 | g.51916165A= | CA2036237051 | ACVRL1 | c.908A= (p.Tyr303=) c.1178A= (p.Tyr393=) c.656A= (p.Tyr219=) n.453A= c.1220A= (p.Tyr407=) c.183A= c.389A= (p.Tyr130=) | |
12 | g.51916165A>C | CA384902770 | ACVRL1 | c.908A>C (p.Tyr303Ser) c.1178A>C (p.Tyr393Ser) c.656A>C (p.Tyr219Ser) n.453A>C c.1220A>C (p.Tyr407Ser) c.183A>C c.389A>C (p.Tyr130Ser) | dbSNP |
12 | g.51916165A>G | CA384902768 | ACVRL1 | c.908A>G (p.Tyr303Cys) c.1178A>G (p.Tyr393Cys) c.656A>G (p.Tyr219Cys) n.453A>G c.1220A>G (p.Tyr407Cys) c.183A>G c.389A>G (p.Tyr130Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916165A>T | CA384902769 | ACVRL1 | c.908A>T (p.Tyr303Phe) c.1178A>T (p.Tyr393Phe) c.656A>T (p.Tyr219Phe) n.453A>T c.1220A>T (p.Tyr407Phe) c.183A>T c.389A>T (p.Tyr130Phe) | |
12 | g.51916166C>A | CA6573084 | ACVRL1 | c.909C>A (p.Tyr303Ter) c.1179C>A (p.Tyr393Ter) c.657C>A (p.Tyr219Ter) n.454C>A c.1221C>A (p.Tyr407Ter) c.184C>A c.390C>A (p.Tyr130Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916166C= | CA2036237056 | ACVRL1 | c.909C= (p.Tyr303=) c.1179C= (p.Tyr393=) c.657C= (p.Tyr219=) n.454C= c.1221C= (p.Tyr407=) c.184C= c.390C= (p.Tyr130=) | |
12 | g.51916166C>G | CA384902771 | ACVRL1 | c.909C>G (p.Tyr303Ter) c.1179C>G (p.Tyr393Ter) c.657C>G (p.Tyr219Ter) n.454C>G c.1221C>G (p.Tyr407Ter) c.184C>G c.390C>G (p.Tyr130Ter) | |
12 | g.51916166C>T | CA479811126 | ACVRL1 | c.909C>T (p.Tyr303=) c.1179C>T (p.Tyr393=) c.657C>T (p.Tyr219=) n.454C>T c.1221C>T (p.Tyr407=) c.184C>T c.390C>T (p.Tyr130=) | |
12 | g.51916167A>C | CA384902772 | ACVRL1 | c.910A>C (p.Lys304Gln) c.1180A>C (p.Lys394Gln) c.658A>C (p.Lys220Gln) n.455A>C c.1222A>C (p.Lys408Gln) c.185A>C c.391A>C (p.Lys131Gln) | |
12 | g.51916167A>G | CA384902773 | ACVRL1 | c.910A>G (p.Lys304Glu) c.1180A>G (p.Lys394Glu) c.658A>G (p.Lys220Glu) n.455A>G c.1222A>G (p.Lys408Glu) c.185A>G c.391A>G (p.Lys131Glu) | |
12 | g.51916167A>T | CA384902776 | ACVRL1 | c.910A>T (p.Lys304Ter) c.1180A>T (p.Lys394Ter) c.658A>T (p.Lys220Ter) n.455A>T c.1222A>T (p.Lys408Ter) c.185A>T c.391A>T (p.Lys131Ter) | |
12 | g.51916168A>C | CA384902779 | ACVRL1 | c.911A>C (p.Lys304Thr) c.1181A>C (p.Lys394Thr) c.659A>C (p.Lys220Thr) n.456A>C c.1223A>C (p.Lys408Thr) c.186A>C c.392A>C (p.Lys131Thr) | |
12 | g.51916168A>G | CA384902783 | ACVRL1 | c.911A>G (p.Lys304Arg) c.1181A>G (p.Lys394Arg) c.659A>G (p.Lys220Arg) n.456A>G c.1223A>G (p.Lys408Arg) c.186A>G c.392A>G (p.Lys131Arg) | gnomAD v4 |
12 | g.51916168A>T | CA384902781 | ACVRL1 | c.911A>T (p.Lys304Met) c.1181A>T (p.Lys394Met) c.659A>T (p.Lys220Met) n.456A>T c.1223A>T (p.Lys408Met) c.186A>T c.392A>T (p.Lys131Met) | |
12 | g.51916169G>A | CA479811147 | ACVRL1 | c.912G>A (p.Lys304=) c.1182G>A (p.Lys394=) c.660G>A (p.Lys220=) n.457G>A c.1224G>A (p.Lys408=) c.187G>A c.393G>A (p.Lys131=) | gnomAD v4 |
12 | g.51916169G>C | CA384902785 | ACVRL1 | c.912G>C (p.Lys304Asn) c.1182G>C (p.Lys394Asn) c.660G>C (p.Lys220Asn) n.457G>C c.1224G>C (p.Lys408Asn) c.187G>C c.393G>C (p.Lys131Asn) | |
12 | g.51916169G>T | CA384902788 | ACVRL1 | c.912G>T (p.Lys304Asn) c.1182G>T (p.Lys394Asn) c.660G>T (p.Lys220Asn) n.457G>T c.1224G>T (p.Lys408Asn) c.187G>T c.393G>T (p.Lys131Asn) | |
12 | g.51916170T>A | CA384902793 | ACVRL1 | c.913T>A (p.Trp305Arg) c.1183T>A (p.Trp395Arg) c.661T>A (p.Trp221Arg) n.458T>A c.1225T>A (p.Trp409Arg) c.188T>A c.394T>A (p.Trp132Arg) | |
12 | g.51916170T>C | CA384902794 | ACVRL1 | c.913T>C (p.Trp305Arg) c.1183T>C (p.Trp395Arg) c.661T>C (p.Trp221Arg) n.458T>C c.1225T>C (p.Trp409Arg) c.188T>C c.394T>C (p.Trp132Arg) | dbSNP |
12 | g.51916170T>G | CA384902796 | ACVRL1 | c.913T>G (p.Trp305Gly) c.1183T>G (p.Trp395Gly) c.661T>G (p.Trp221Gly) n.458T>G c.1225T>G (p.Trp409Gly) c.188T>G c.394T>G (p.Trp132Gly) | |
12 | g.51916170T= | CA2036237059 | ACVRL1 | c.913T= (p.Trp305=) c.1183T= (p.Trp395=) c.661T= (p.Trp221=) n.458T= c.1225T= (p.Trp409=) c.188T= c.394T= (p.Trp132=) | |
12 | g.51916171G>A | CA384902804 | ACVRL1 | c.914G>A (p.Trp305Ter) c.1184G>A (p.Trp395Ter) c.662G>A (p.Trp221Ter) n.459G>A c.1226G>A (p.Trp409Ter) c.189G>A c.395G>A (p.Trp132Ter) | |
12 | g.51916171G>C | CA384902807 | ACVRL1 | c.914G>C (p.Trp305Ser) c.1184G>C (p.Trp395Ser) c.662G>C (p.Trp221Ser) n.459G>C c.1226G>C (p.Trp409Ser) c.189G>C c.395G>C (p.Trp132Ser) | |
12 | g.51916171G>T | CA384902816 | ACVRL1 | c.914G>T (p.Trp305Leu) c.1184G>T (p.Trp395Leu) c.662G>T (p.Trp221Leu) n.459G>T c.1226G>T (p.Trp409Leu) c.189G>T c.395G>T (p.Trp132Leu) | |
12 | g.51916172G>A | CA384902820 | ACVRL1 | c.915G>A (p.Trp305Ter) c.1185G>A (p.Trp395Ter) c.663G>A (p.Trp221Ter) n.460G>A c.1227G>A (p.Trp409Ter) c.190G>A c.396G>A (p.Trp132Ter) | |
12 | g.51916172G>C | CA384902825 | ACVRL1 | c.915G>C (p.Trp305Cys) c.1185G>C (p.Trp395Cys) c.663G>C (p.Trp221Cys) n.460G>C c.1227G>C (p.Trp409Cys) c.190G>C c.396G>C (p.Trp132Cys) | |
12 | g.51916172G>T | CA384902827 | ACVRL1 | c.915G>T (p.Trp305Cys) c.1185G>T (p.Trp395Cys) c.663G>T (p.Trp221Cys) n.460G>T c.1227G>T (p.Trp409Cys) c.190G>T c.396G>T (p.Trp132Cys) | |
12 | g.51916173A>C | CA384902836 | ACVRL1 | c.916A>C (p.Thr306Pro) c.1186A>C (p.Thr396Pro) c.664A>C (p.Thr222Pro) n.461A>C c.1228A>C (p.Thr410Pro) c.191A>C c.397A>C (p.Thr133Pro) | |
12 | g.51916173A>G | CA384902835 | ACVRL1 | c.916A>G (p.Thr306Ala) c.1186A>G (p.Thr396Ala) c.664A>G (p.Thr222Ala) n.461A>G c.1228A>G (p.Thr410Ala) c.191A>G c.397A>G (p.Thr133Ala) | gnomAD v4 |
12 | g.51916173A>T | CA384902831 | ACVRL1 | c.916A>T (p.Thr306Ser) c.1186A>T (p.Thr396Ser) c.664A>T (p.Thr222Ser) n.461A>T c.1228A>T (p.Thr410Ser) c.191A>T c.397A>T (p.Thr133Ser) | |
12 | g.51916174C>A | CA384902838 | ACVRL1 | c.917C>A (p.Thr306Asn) c.1187C>A (p.Thr396Asn) c.665C>A (p.Thr222Asn) n.462C>A c.1229C>A (p.Thr410Asn) c.192C>A c.398C>A (p.Thr133Asn) | |
12 | g.51916174C= | CA2036237061 | ACVRL1 | c.917C= (p.Thr306=) c.1187C= (p.Thr396=) c.665C= (p.Thr222=) n.462C= c.1229C= (p.Thr410=) c.192C= c.398C= (p.Thr133=) | |
12 | g.51916174C>G | CA384902842 | ACVRL1 | c.917C>G (p.Thr306Ser) c.1187C>G (p.Thr396Ser) c.665C>G (p.Thr222Ser) n.462C>G c.1229C>G (p.Thr410Ser) c.192C>G c.398C>G (p.Thr133Ser) | |
12 | g.51916174C>T | CA6573085 | ACVRL1 | c.917C>T (p.Thr306Ile) c.1187C>T (p.Thr396Ile) c.665C>T (p.Thr222Ile) n.462C>T c.1229C>T (p.Thr410Ile) c.192C>T c.398C>T (p.Thr133Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916175T>A | CA479811191 | ACVRL1 | c.918T>A (p.Thr306=) c.1188T>A (p.Thr396=) c.666T>A (p.Thr222=) n.463T>A c.1230T>A (p.Thr410=) c.193T>A c.399T>A (p.Thr133=) | |
12 | g.51916175T>C | CA479811194 | ACVRL1 | c.918T>C (p.Thr306=) c.1188T>C (p.Thr396=) c.666T>C (p.Thr222=) n.463T>C c.1230T>C (p.Thr410=) c.193T>C c.399T>C (p.Thr133=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51916175T>G | CA479811202 | ACVRL1 | c.918T>G (p.Thr306=) c.1188T>G (p.Thr396=) c.666T>G (p.Thr222=) n.463T>G c.1230T>G (p.Thr410=) c.193T>G c.399T>G (p.Thr133=) | |
12 | g.51916175T= | CA2036237065 | ACVRL1 | c.918T= (p.Thr306=) c.1188T= (p.Thr396=) c.666T= (p.Thr222=) n.463T= c.1230T= (p.Thr410=) c.193T= c.399T= (p.Thr133=) | |
12 | g.51916175_51916176delinsAA | CA915948526 | ACVRL1 | c.918_919delinsAA (p.Asp307Asn) c.1188_1189delinsAA (p.Asp397Asn) c.666_667delinsAA (p.Asp223Asn) n.463_464delinsAA c.1230_1231delinsAA (p.Asp411Asn) c.193_194delinsAA c.399_400delinsAA (p.Asp134Asn) | ClinVar dbSNP |
12 | g.51916175_51916176delinsTG | CA2036237067 | ACVRL1 | c.918_919delinsTG (p.Thr306=) c.1188_1189delinsTG (p.Thr396=) c.666_667delinsTG (p.Thr222=) n.463_464delinsTG c.1230_1231delinsTG (p.Thr410=) c.193_194delinsTG c.399_400delinsTG (p.Thr133=) | |
12 | g.51916176G>A | CA384902844 | ACVRL1 | c.919G>A (p.Asp307Asn) c.1189G>A (p.Asp397Asn) c.667G>A (p.Asp223Asn) n.464G>A c.1231G>A (p.Asp411Asn) c.194G>A c.400G>A (p.Asp134Asn) | ClinVar dbSNP |
12 | g.51916176G>C | CA384902853 | ACVRL1 | c.919G>C (p.Asp307His) c.1189G>C (p.Asp397His) c.667G>C (p.Asp223His) n.464G>C c.1231G>C (p.Asp411His) c.194G>C c.400G>C (p.Asp134His) | |
12 | g.51916176G= | CA2036237072 | ACVRL1 | c.919G= (p.Asp307=) c.1189G= (p.Asp397=) c.667G= (p.Asp223=) n.464G= c.1231G= (p.Asp411=) c.194G= c.400G= (p.Asp134=) | |
12 | g.51916176G>T | CA384902851 | ACVRL1 | c.919G>T (p.Asp307Tyr) c.1189G>T (p.Asp397Tyr) c.667G>T (p.Asp223Tyr) n.464G>T c.1231G>T (p.Asp411Tyr) c.194G>T c.400G>T (p.Asp134Tyr) | |
12 | g.51916177A= | CA2036237079 | ACVRL1 | c.920A= (p.Asp307=) c.1190A= (p.Asp397=) c.668A= (p.Asp223=) n.465A= c.1232A= (p.Asp411=) c.195A= c.401A= (p.Asp134=) | |
12 | g.51916177A>C | CA384902855 | ACVRL1 | c.920A>C (p.Asp307Ala) c.1190A>C (p.Asp397Ala) c.668A>C (p.Asp223Ala) n.465A>C c.1232A>C (p.Asp411Ala) c.195A>C c.401A>C (p.Asp134Ala) | |
12 | g.51916177A>G | CA384902858 | ACVRL1 | c.920A>G (p.Asp307Gly) c.1190A>G (p.Asp397Gly) c.668A>G (p.Asp223Gly) n.465A>G c.1232A>G (p.Asp411Gly) c.195A>G c.401A>G (p.Asp134Gly) | |
12 | g.51916177A>T | CA384902866 | ACVRL1 | c.920A>T (p.Asp307Val) c.1190A>T (p.Asp397Val) c.668A>T (p.Asp223Val) n.465A>T c.1232A>T (p.Asp411Val) c.195A>T c.401A>T (p.Asp134Val) | ClinVar dbSNP |
12 | g.51916178C>A | CA384902867 | ACVRL1 | c.921C>A (p.Asp307Glu) c.1191C>A (p.Asp397Glu) c.669C>A (p.Asp223Glu) n.466C>A c.1233C>A (p.Asp411Glu) c.196C>A c.402C>A (p.Asp134Glu) | |
12 | g.51916178C= | CA2036237083 | ACVRL1 | c.921C= (p.Asp307=) c.1191C= (p.Asp397=) c.669C= (p.Asp223=) n.466C= c.1233C= (p.Asp411=) c.196C= c.402C= (p.Asp134=) | |
12 | g.51916178C>G | CA384902868 | ACVRL1 | c.921C>G (p.Asp307Glu) c.1191C>G (p.Asp397Glu) c.669C>G (p.Asp223Glu) n.466C>G c.1233C>G (p.Asp411Glu) c.196C>G c.402C>G (p.Asp134Glu) | |
12 | g.51916178C>T | CA479811236 | ACVRL1 | c.921C>T (p.Asp307=) c.1191C>T (p.Asp397=) c.669C>T (p.Asp223=) n.466C>T c.1233C>T (p.Asp411=) c.196C>T c.402C>T (p.Asp134=) | ClinVar dbSNP gnomAD v4 |
12 | g.51916179A= | CA2036237085 | ACVRL1 | c.922A= (p.Ile308=) c.1192A= (p.Ile398=) c.670A= (p.Ile224=) n.467A= c.1234A= (p.Ile412=) c.197A= c.403A= (p.Ile135=) | |
12 | g.51916179A>C | CA6573086 | ACVRL1 | c.922A>C (p.Ile308Leu) c.1192A>C (p.Ile398Leu) c.670A>C (p.Ile224Leu) n.467A>C c.1234A>C (p.Ile412Leu) c.197A>C c.403A>C (p.Ile135Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51916179A>G | CA6573087 | ACVRL1 | c.922A>G (p.Ile308Val) c.1192A>G (p.Ile398Val) c.670A>G (p.Ile224Val) n.467A>G c.1234A>G (p.Ile412Val) c.197A>G c.403A>G (p.Ile135Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916179A>T | CA384902870 | ACVRL1 | c.922A>T (p.Ile308Phe) c.1192A>T (p.Ile398Phe) c.670A>T (p.Ile224Phe) n.467A>T c.1234A>T (p.Ile412Phe) c.197A>T c.403A>T (p.Ile135Phe) | ClinVar |
12 | g.51916180T>A | CA254377 | ACVRL1 | c.923T>A (p.Ile308Asn) c.1193T>A (p.Ile398Asn) c.671T>A (p.Ile224Asn) n.468T>A c.1235T>A (p.Ile412Asn) c.198T>A c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
12 | g.51916180T>C | CA384902873 | ACVRL1 | c.923T>C (p.Ile308Thr) c.1193T>C (p.Ile398Thr) c.671T>C (p.Ile224Thr) n.468T>C c.1235T>C (p.Ile412Thr) c.198T>C c.404T>C (p.Ile135Thr) | |
12 | g.51916180T>G | CA384902875 | ACVRL1 | c.923T>G (p.Ile308Ser) c.1193T>G (p.Ile398Ser) c.671T>G (p.Ile224Ser) n.468T>G c.1235T>G (p.Ile412Ser) c.198T>G c.404T>G (p.Ile135Ser) | |
12 | g.51916180T= | CA2036237090 | ACVRL1 | c.923T= (p.Ile308=) c.1193T= (p.Ile398=) c.671T= (p.Ile224=) n.468T= c.1235T= (p.Ile412=) c.198T= c.404T= (p.Ile135=) | |
12 | g.51916181C>A | CA479811265 | ACVRL1 | c.924C>A (p.Ile308=) c.1194C>A (p.Ile398=) c.672C>A (p.Ile224=) n.469C>A c.1236C>A (p.Ile412=) c.199C>A c.405C>A (p.Ile135=) | |
12 | g.51916181C>G | CA384902877 | ACVRL1 | c.924C>G (p.Ile308Met) c.1194C>G (p.Ile398Met) c.672C>G (p.Ile224Met) n.469C>G c.1236C>G (p.Ile412Met) c.199C>G c.405C>G (p.Ile135Met) | |
12 | g.51916181C>T | CA479811272 | ACVRL1 | c.924C>T (p.Ile308=) c.1194C>T (p.Ile398=) c.672C>T (p.Ile224=) n.469C>T c.1236C>T (p.Ile412=) c.199C>T c.405C>T (p.Ile135=) | |
12 | g.51916182T>A | CA384902879 | ACVRL1 | c.925T>A (p.Trp309Arg) c.1195T>A (p.Trp399Arg) c.673T>A (p.Trp225Arg) n.470T>A c.1237T>A (p.Trp413Arg) c.200T>A c.406T>A (p.Trp136Arg) | |
12 | g.51916182T>C | CA384902882 | ACVRL1 | c.925T>C (p.Trp309Arg) c.1195T>C (p.Trp399Arg) c.673T>C (p.Trp225Arg) n.470T>C c.1237T>C (p.Trp413Arg) c.200T>C c.406T>C (p.Trp136Arg) | ClinVar dbSNP |
12 | g.51916182T>G | CA384902880 | ACVRL1 | c.925T>G (p.Trp309Gly) c.1195T>G (p.Trp399Gly) c.673T>G (p.Trp225Gly) n.470T>G c.1237T>G (p.Trp413Gly) c.200T>G c.406T>G (p.Trp136Gly) | ClinVar dbSNP |
12 | g.51916182T= | CA2036237096 | ACVRL1 | c.925T= (p.Trp309=) c.1195T= (p.Trp399=) c.673T= (p.Trp225=) n.470T= c.1237T= (p.Trp413=) c.200T= c.406T= (p.Trp136=) | |
12 | g.51916183G>A | CA384902884 | ACVRL1 | c.926G>A (p.Trp309Ter) c.1196G>A (p.Trp399Ter) c.674G>A (p.Trp225Ter) n.471G>A c.1238G>A (p.Trp413Ter) c.201G>A c.407G>A (p.Trp136Ter) | ClinVar dbSNP |
12 | g.51916183G>C | CA119410 | ACVRL1 | c.926G>C (p.Trp309Ser) c.1196G>C (p.Trp399Ser) c.674G>C (p.Trp225Ser) n.471G>C c.1238G>C (p.Trp413Ser) c.201G>C c.407G>C (p.Trp136Ser) | ClinVar dbSNP |
12 | g.51916183G= | CA2036237105 | ACVRL1 | c.926G= (p.Trp309=) c.1196G= (p.Trp399=) c.674G= (p.Trp225=) n.471G= c.1238G= (p.Trp413=) c.201G= c.407G= (p.Trp136=) | |
12 | g.51916183G>T | CA384902886 | ACVRL1 | c.926G>T (p.Trp309Leu) c.1196G>T (p.Trp399Leu) c.674G>T (p.Trp225Leu) n.471G>T c.1238G>T (p.Trp413Leu) c.201G>T c.407G>T (p.Trp136Leu) | ClinVar dbSNP |
12 | g.51916185dup | CA2842769031 | ACVRL1 | c.928dup (p.Ala310GlyfsTer23) c.1198dup (p.Ala400GlyfsTer23) c.676dup (p.Ala226GlyfsTer23) n.473dup c.1240dup (p.Ala414GlyfsTer23) c.203dup c.409dup (p.Ala137GlyfsTer23) | |
12 | g.51916185del | CA2580086500 | ACVRL1 | c.928del (p.Ala310ProfsTer15) c.1198del (p.Ala400ProfsTer15) c.676del (p.Ala226ProfsTer15) n.473del c.1240del (p.Ala414ProfsTer15) c.203del c.409del (p.Ala137ProfsTer15) | ClinVar |
12 | g.51916184G>A | CA384902889 | ACVRL1 | c.927G>A (p.Trp309Ter) c.1197G>A (p.Trp399Ter) c.675G>A (p.Trp225Ter) n.472G>A c.1239G>A (p.Trp413Ter) c.202G>A c.408G>A (p.Trp136Ter) | ClinVar dbSNP |
12 | g.51916184G>C | CA384902894 | ACVRL1 | c.927G>C (p.Trp309Cys) c.1197G>C (p.Trp399Cys) c.675G>C (p.Trp225Cys) n.472G>C c.1239G>C (p.Trp413Cys) c.202G>C c.408G>C (p.Trp136Cys) | |
12 | g.51916184G= | CA2036237110 | ACVRL1 | c.927G= (p.Trp309=) c.1197G= (p.Trp399=) c.675G= (p.Trp225=) n.472G= c.1239G= (p.Trp413=) c.202G= c.408G= (p.Trp136=) | |
12 | g.51916184G>T | CA384902896 | ACVRL1 | c.927G>T (p.Trp309Cys) c.1197G>T (p.Trp399Cys) c.675G>T (p.Trp225Cys) n.472G>T c.1239G>T (p.Trp413Cys) c.202G>T c.408G>T (p.Trp136Cys) | |
12 | g.51916185G>A | CA384902898 | ACVRL1 | c.928G>A (p.Ala310Thr) c.1198G>A (p.Ala400Thr) c.676G>A (p.Ala226Thr) n.473G>A c.1240G>A (p.Ala414Thr) c.203G>A c.409G>A (p.Ala137Thr) | ClinVar |
12 | g.51916185G>C | CA384902900 | ACVRL1 | c.928G>C (p.Ala310Pro) c.1198G>C (p.Ala400Pro) c.676G>C (p.Ala226Pro) n.473G>C c.1240G>C (p.Ala414Pro) c.203G>C c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
12 | g.51916185G>T | CA384902902 | ACVRL1 | c.928G>T (p.Ala310Ser) c.1198G>T (p.Ala400Ser) c.676G>T (p.Ala226Ser) n.473G>T c.1240G>T (p.Ala414Ser) c.203G>T c.409G>T (p.Ala137Ser) | |
12 | g.51916186C>A | CA384902908 | ACVRL1 | c.929C>A (p.Ala310Asp) c.1199C>A (p.Ala400Asp) c.677C>A (p.Ala226Asp) n.474C>A c.1241C>A (p.Ala414Asp) c.204C>A c.410C>A (p.Ala137Asp) | ClinVar dbSNP |
12 | g.51916186C>G | CA384902906 | ACVRL1 | c.929C>G (p.Ala310Gly) c.1199C>G (p.Ala400Gly) c.677C>G (p.Ala226Gly) n.474C>G c.1241C>G (p.Ala414Gly) c.204C>G c.410C>G (p.Ala137Gly) | |
12 | g.51916186C>T | CA384902904 | ACVRL1 | c.929C>T (p.Ala310Val) c.1199C>T (p.Ala400Val) c.677C>T (p.Ala226Val) n.474C>T c.1241C>T (p.Ala414Val) c.204C>T c.410C>T (p.Ala137Val) | ClinVar |
12 | g.51916187C>A | CA479811380 | ACVRL1 | c.930C>A (p.Ala310=) c.1200C>A (p.Ala400=) c.678C>A (p.Ala226=) n.475C>A c.1242C>A (p.Ala414=) c.205C>A c.411C>A (p.Ala137=) | |
12 | g.51916187C>G | CA479811384 | ACVRL1 | c.930C>G (p.Ala310=) c.1200C>G (p.Ala400=) c.678C>G (p.Ala226=) n.475C>G c.1242C>G (p.Ala414=) c.205C>G c.411C>G (p.Ala137=) | |
12 | g.51916187C>T | CA479811387 | ACVRL1 | c.930C>T (p.Ala310=) c.1200C>T (p.Ala400=) c.678C>T (p.Ala226=) n.475C>T c.1242C>T (p.Ala414=) c.205C>T c.411C>T (p.Ala137=) | dbSNP |
12 | g.51916188T>A | CA384902909 | ACVRL1 | c.931T>A (p.Phe311Ile) c.1201T>A (p.Phe401Ile) c.679T>A (p.Phe227Ile) n.476T>A c.1243T>A (p.Phe415Ile) c.206T>A c.412T>A (p.Phe138Ile) | |
12 | g.51916188T>C | CA384902910 | ACVRL1 | c.931T>C (p.Phe311Leu) c.1201T>C (p.Phe401Leu) c.679T>C (p.Phe227Leu) n.476T>C c.1243T>C (p.Phe415Leu) c.206T>C c.412T>C (p.Phe138Leu) | |
12 | g.51916188T>G | CA384902911 | ACVRL1 | c.931T>G (p.Phe311Val) c.1201T>G (p.Phe401Val) c.679T>G (p.Phe227Val) n.476T>G c.1243T>G (p.Phe415Val) c.206T>G c.412T>G (p.Phe138Val) | |
12 | g.51916189T>A | CA384902914 | ACVRL1 | c.932T>A (p.Phe311Tyr) c.1202T>A (p.Phe401Tyr) c.680T>A (p.Phe227Tyr) n.477T>A c.1244T>A (p.Phe415Tyr) c.207T>A c.413T>A (p.Phe138Tyr) | |
12 | g.51916189T>C | CA384902915 | ACVRL1 | c.932T>C (p.Phe311Ser) c.1202T>C (p.Phe401Ser) c.680T>C (p.Phe227Ser) n.477T>C c.1244T>C (p.Phe415Ser) c.207T>C c.413T>C (p.Phe138Ser) | |
12 | g.51916189T>G | CA384902917 | ACVRL1 | c.932T>G (p.Phe311Cys) c.1202T>G (p.Phe401Cys) c.680T>G (p.Phe227Cys) n.477T>G c.1244T>G (p.Phe415Cys) c.207T>G c.413T>G (p.Phe138Cys) | |
12 | g.51916190T>A | CA384902919 | ACVRL1 | c.933T>A (p.Phe311Leu) c.1203T>A (p.Phe401Leu) c.681T>A (p.Phe227Leu) n.478T>A c.1245T>A (p.Phe415Leu) c.208T>A c.414T>A (p.Phe138Leu) | |
12 | g.51916190T>C | CA479811437 | ACVRL1 | c.933T>C (p.Phe311=) c.1203T>C (p.Phe401=) c.681T>C (p.Phe227=) n.478T>C c.1245T>C (p.Phe415=) c.208T>C c.414T>C (p.Phe138=) | |
12 | g.51916190T>G | CA384902921 | ACVRL1 | c.933T>G (p.Phe311Leu) c.1203T>G (p.Phe401Leu) c.681T>G (p.Phe227Leu) n.478T>G c.1245T>G (p.Phe415Leu) c.208T>G c.414T>G (p.Phe138Leu) | |
12 | g.51916191G>A | CA384902923 | ACVRL1 | c.934G>A (p.Gly312Ser) c.1204G>A (p.Gly402Ser) c.682G>A (p.Gly228Ser) n.479G>A c.1246G>A (p.Gly416Ser) c.209G>A c.415G>A (p.Gly139Ser) | ClinVar dbSNP |
12 | g.51916191G>C | CA384902924 | ACVRL1 | c.934G>C (p.Gly312Arg) c.1204G>C (p.Gly402Arg) c.682G>C (p.Gly228Arg) n.479G>C c.1246G>C (p.Gly416Arg) c.209G>C c.415G>C (p.Gly139Arg) | |
12 | g.51916191G= | CA2036237114 | ACVRL1 | c.934G= (p.Gly312=) c.1204G= (p.Gly402=) c.682G= (p.Gly228=) n.479G= c.1246G= (p.Gly416=) c.209G= c.415G= (p.Gly139=) | |
12 | g.51916191G>T | CA384902925 | ACVRL1 | c.934G>T (p.Gly312Cys) c.1204G>T (p.Gly402Cys) c.682G>T (p.Gly228Cys) n.479G>T c.1246G>T (p.Gly416Cys) c.209G>T c.415G>T (p.Gly139Cys) | |
12 | g.51916192G>A | CA384902931 | ACVRL1 | c.935G>A (p.Gly312Asp) c.1205G>A (p.Gly402Asp) c.683G>A (p.Gly228Asp) n.480G>A c.1247G>A (p.Gly416Asp) c.210G>A c.416G>A (p.Gly139Asp) | |
12 | g.51916192G>C | CA384902929 | ACVRL1 | c.935G>C (p.Gly312Ala) c.1205G>C (p.Gly402Ala) c.683G>C (p.Gly228Ala) n.480G>C c.1247G>C (p.Gly416Ala) c.210G>C c.416G>C (p.Gly139Ala) | |
12 | g.51916192G>T | CA384902927 | ACVRL1 | c.935G>T (p.Gly312Val) c.1205G>T (p.Gly402Val) c.683G>T (p.Gly228Val) n.480G>T c.1247G>T (p.Gly416Val) c.210G>T c.416G>T (p.Gly139Val) | |
12 | g.51916193C>A | CA479811452 | ACVRL1 | c.936C>A (p.Gly312=) c.1206C>A (p.Gly402=) c.684C>A (p.Gly228=) n.481C>A c.1248C>A (p.Gly416=) c.211C>A c.417C>A (p.Gly139=) | |
12 | g.51916193C>G | CA479811455 | ACVRL1 | c.936C>G (p.Gly312=) c.1206C>G (p.Gly402=) c.684C>G (p.Gly228=) n.481C>G c.1248C>G (p.Gly416=) c.211C>G c.417C>G (p.Gly139=) | |
12 | g.51916193C>T | CA479811459 | ACVRL1 | c.936C>T (p.Gly312=) c.1206C>T (p.Gly402=) c.684C>T (p.Gly228=) n.481C>T c.1248C>T (p.Gly416=) c.211C>T c.417C>T (p.Gly139=) | |
12 | g.51916194C>A | CA384902938 | ACVRL1 | c.937C>A (p.Leu313Met) c.1207C>A (p.Leu403Met) c.685C>A (p.Leu229Met) n.482C>A c.1249C>A (p.Leu417Met) c.212C>A c.418C>A (p.Leu140Met) | |
12 | g.51916194C>G | CA384902947 | ACVRL1 | c.937C>G (p.Leu313Val) c.1207C>G (p.Leu403Val) c.685C>G (p.Leu229Val) n.482C>G c.1249C>G (p.Leu417Val) c.212C>G c.418C>G (p.Leu140Val) | |
12 | g.51916194C>T | CA479811466 | ACVRL1 | c.937C>T (p.Leu313=) c.1207C>T (p.Leu403=) c.685C>T (p.Leu229=) n.482C>T c.1249C>T (p.Leu417=) c.212C>T c.418C>T (p.Leu140=) | |
12 | g.51916195T>A | CA384902949 | ACVRL1 | c.938T>A (p.Leu313Gln) c.1208T>A (p.Leu403Gln) c.686T>A (p.Leu229Gln) n.483T>A c.1250T>A (p.Leu417Gln) c.213T>A c.419T>A (p.Leu140Gln) | |
12 | g.51916195T>C | CA384902951 | ACVRL1 | c.938T>C (p.Leu313Pro) c.1208T>C (p.Leu403Pro) c.686T>C (p.Leu229Pro) n.483T>C c.1250T>C (p.Leu417Pro) c.213T>C c.419T>C (p.Leu140Pro) | ClinVar |
12 | g.51916195T>G | CA384902952 | ACVRL1 | c.938T>G (p.Leu313Arg) c.1208T>G (p.Leu403Arg) c.686T>G (p.Leu229Arg) n.483T>G c.1250T>G (p.Leu417Arg) c.213T>G c.419T>G (p.Leu140Arg) | |
12 | g.51916196G>A | CA479811484 | ACVRL1 | c.939G>A (p.Leu313=) c.1209G>A (p.Leu403=) c.687G>A (p.Leu229=) n.484G>A c.1251G>A (p.Leu417=) c.214G>A c.420G>A (p.Leu140=) | gnomAD v4 |
12 | g.51916196G>C | CA479811485 | ACVRL1 | c.939G>C (p.Leu313=) c.1209G>C (p.Leu403=) c.687G>C (p.Leu229=) n.484G>C c.1251G>C (p.Leu417=) c.214G>C c.420G>C (p.Leu140=) | |
12 | g.51916196G>T | CA479811486 | ACVRL1 | c.939G>T (p.Leu313=) c.1209G>T (p.Leu403=) c.687G>T (p.Leu229=) n.484G>T c.1251G>T (p.Leu417=) c.214G>T c.420G>T (p.Leu140=) | |
12 | g.51916197G>A | CA384902954 | ACVRL1 | c.940G>A (p.Val314Met) c.1210G>A (p.Val404Met) c.688G>A (p.Val230Met) n.485G>A c.1252G>A (p.Val418Met) c.215G>A c.421G>A (p.Val141Met) | |
12 | g.51916197G>C | CA384902955 | ACVRL1 | c.940G>C (p.Val314Leu) c.1210G>C (p.Val404Leu) c.688G>C (p.Val230Leu) n.485G>C c.1252G>C (p.Val418Leu) c.215G>C c.421G>C (p.Val141Leu) | |
12 | g.51916197G>T | CA384902956 | ACVRL1 | c.940G>T (p.Val314Leu) c.1210G>T (p.Val404Leu) c.688G>T (p.Val230Leu) n.485G>T c.1252G>T (p.Val418Leu) c.215G>T c.421G>T (p.Val141Leu) | |
12 | g.51916198T>A | CA384902957 | ACVRL1 | c.941T>A (p.Val314Glu) c.1211T>A (p.Val404Glu) c.689T>A (p.Val230Glu) n.486T>A c.1253T>A (p.Val418Glu) c.216T>A c.422T>A (p.Val141Glu) | ClinVar |
12 | g.51916198T>C | CA384902958 | ACVRL1 | c.941T>C (p.Val314Ala) c.1211T>C (p.Val404Ala) c.689T>C (p.Val230Ala) n.486T>C c.1253T>C (p.Val418Ala) c.216T>C c.422T>C (p.Val141Ala) | |
12 | g.51916198T>G | CA384902959 | ACVRL1 | c.941T>G (p.Val314Gly) c.1211T>G (p.Val404Gly) c.689T>G (p.Val230Gly) n.486T>G c.1253T>G (p.Val418Gly) c.216T>G c.422T>G (p.Val141Gly) | |
12 | g.51916199G>A | CA479811518 | ACVRL1 | c.942G>A (p.Val314=) c.1212G>A (p.Val404=) c.690G>A (p.Val230=) n.487G>A c.1254G>A (p.Val418=) c.217G>A c.423G>A (p.Val141=) | |
12 | g.51916199G>C | CA479811513 | ACVRL1 | c.942G>C (p.Val314=) c.1212G>C (p.Val404=) c.690G>C (p.Val230=) n.487G>C c.1254G>C (p.Val418=) c.217G>C c.423G>C (p.Val141=) | |
12 | g.51916199G>T | CA479811510 | ACVRL1 | c.942G>T (p.Val314=) c.1212G>T (p.Val404=) c.690G>T (p.Val230=) n.487G>T c.1254G>T (p.Val418=) c.217G>T c.423G>T (p.Val141=) | |
12 | g.51916199dup | CA2842769032 | ACVRL1 | c.942dup (p.Leu315AlafsTer18) c.1212dup (p.Leu405AlafsTer18) c.690dup (p.Leu231AlafsTer18) n.487dup c.1254dup (p.Leu419AlafsTer18) c.217dup c.423dup (p.Leu142AlafsTer18) | |
12 | g.51916200C>A | CA384902961 | ACVRL1 | c.943C>A (p.Leu315Met) c.1213C>A (p.Leu405Met) c.691C>A (p.Leu231Met) n.488C>A c.1255C>A (p.Leu419Met) c.218C>A c.424C>A (p.Leu142Met) | |
12 | g.51916200C>G | CA384902962 | ACVRL1 | c.943C>G (p.Leu315Val) c.1213C>G (p.Leu405Val) c.691C>G (p.Leu231Val) n.488C>G c.1255C>G (p.Leu419Val) c.218C>G c.424C>G (p.Leu142Val) | |
12 | g.51916200C>T | CA479811526 | ACVRL1 | c.943C>T (p.Leu315=) c.1213C>T (p.Leu405=) c.691C>T (p.Leu231=) n.488C>T c.1255C>T (p.Leu419=) c.218C>T c.424C>T (p.Leu142=) | |
12 | g.51916201T>A | CA384902966 | ACVRL1 | c.944T>A (p.Leu315Gln) c.1214T>A (p.Leu405Gln) c.692T>A (p.Leu231Gln) n.489T>A c.1256T>A (p.Leu419Gln) c.219T>A c.425T>A (p.Leu142Gln) | |
12 | g.51916201T>C | CA384902972 | ACVRL1 | c.944T>C (p.Leu315Pro) c.1214T>C (p.Leu405Pro) c.692T>C (p.Leu231Pro) n.489T>C c.1256T>C (p.Leu419Pro) c.219T>C c.425T>C (p.Leu142Pro) | ClinVar |
12 | g.51916201T>G | CA384902964 | ACVRL1 | c.944T>G (p.Leu315Arg) c.1214T>G (p.Leu405Arg) c.692T>G (p.Leu231Arg) n.489T>G c.1256T>G (p.Leu419Arg) c.219T>G c.425T>G (p.Leu142Arg) | |
12 | g.51916202del | CA2573148784 | ACVRL1 | c.945del (p.Trp316GlyfsTer9) c.1215del (p.Trp406GlyfsTer9) c.693del (p.Trp232GlyfsTer9) n.490del c.1257del (p.Trp420GlyfsTer9) c.220del c.426del (p.Trp143GlyfsTer9) | ClinVar dbSNP |
12 | g.51916202G>A | CA6573088 | ACVRL1 | c.945G>A (p.Leu315=) c.1215G>A (p.Leu405=) c.693G>A (p.Leu231=) n.490G>A c.1257G>A (p.Leu419=) c.220G>A c.426G>A (p.Leu142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51916202G>C | CA479811544 | ACVRL1 | c.945G>C (p.Leu315=) c.1215G>C (p.Leu405=) c.693G>C (p.Leu231=) n.490G>C c.1257G>C (p.Leu419=) c.220G>C c.426G>C (p.Leu142=) | |
12 | g.51916202G= | CA2036237119 | ACVRL1 | c.945G= (p.Leu315=) c.1215G= (p.Leu405=) c.693G= (p.Leu231=) n.490G= c.1257G= (p.Leu419=) c.220G= c.426G= (p.Leu142=) | |
12 | g.51916202G>T | CA479811549 | ACVRL1 | c.945G>T (p.Leu315=) c.1215G>T (p.Leu405=) c.693G>T (p.Leu231=) n.490G>T c.1257G>T (p.Leu419=) c.220G>T c.426G>T (p.Leu142=) | dbSNP |
12 | g.51916203T>A | CA384902975 | ACVRL1 | c.946T>A (p.Trp316Arg) c.1216T>A (p.Trp406Arg) c.694T>A (p.Trp232Arg) n.491T>A c.1258T>A (p.Trp420Arg) c.221T>A c.427T>A (p.Trp143Arg) | |
12 | g.51916203T>C | CA384902977 | ACVRL1 | c.946T>C (p.Trp316Arg) c.1216T>C (p.Trp406Arg) c.694T>C (p.Trp232Arg) n.491T>C c.1258T>C (p.Trp420Arg) c.221T>C c.427T>C (p.Trp143Arg) | |
12 | g.51916203T>G | CA384902978 | ACVRL1 | c.946T>G (p.Trp316Gly) c.1216T>G (p.Trp406Gly) c.694T>G (p.Trp232Gly) n.491T>G c.1258T>G (p.Trp420Gly) c.221T>G c.427T>G (p.Trp143Gly) | |
12 | g.51916204G>A | CA16614169 | ACVRL1 | c.947G>A (p.Trp316Ter) c.1217G>A (p.Trp406Ter) c.695G>A (p.Trp232Ter) n.492G>A c.1259G>A (p.Trp420Ter) c.222G>A c.428G>A (p.Trp143Ter) | ClinVar dbSNP |
12 | g.51916204G>C | CA384902979 | ACVRL1 | c.947G>C (p.Trp316Ser) c.1217G>C (p.Trp406Ser) c.695G>C (p.Trp232Ser) n.492G>C c.1259G>C (p.Trp420Ser) c.222G>C c.428G>C (p.Trp143Ser) | |
12 | g.51916204G= | CA2036237121 | ACVRL1 | c.947G= (p.Trp316=) c.1217G= (p.Trp406=) c.695G= (p.Trp232=) n.492G= c.1259G= (p.Trp420=) c.222G= c.428G= (p.Trp143=) | |
12 | g.51916204G>T | CA384902980 | ACVRL1 | c.947G>T (p.Trp316Leu) c.1217G>T (p.Trp406Leu) c.695G>T (p.Trp232Leu) n.492G>T c.1259G>T (p.Trp420Leu) c.222G>T c.428G>T (p.Trp143Leu) | |
12 | g.51916205G>A | CA384902982 | ACVRL1 | c.948G>A (p.Trp316Ter) c.1218G>A (p.Trp406Ter) c.696G>A (p.Trp232Ter) n.493G>A c.1260G>A (p.Trp420Ter) c.223G>A c.429G>A (p.Trp143Ter) | COSMIC COSMIC |
12 | g.51916205G>C | CA384902987 | ACVRL1 | c.948G>C (p.Trp316Cys) c.1218G>C (p.Trp406Cys) c.696G>C (p.Trp232Cys) n.493G>C c.1260G>C (p.Trp420Cys) c.223G>C c.429G>C (p.Trp143Cys) | |
12 | g.51916205G>T | CA384902988 | ACVRL1 | c.948G>T (p.Trp316Cys) c.1218G>T (p.Trp406Cys) c.696G>T (p.Trp232Cys) n.493G>T c.1260G>T (p.Trp420Cys) c.223G>T c.429G>T (p.Trp143Cys) | ClinVar dbSNP |
12 | g.51916206G>A | CA16607366 | ACVRL1 | c.949G>A (p.Glu317Lys) c.1219G>A (p.Glu407Lys) c.697G>A (p.Glu233Lys) n.494G>A c.1261G>A (p.Glu421Lys) c.224G>A c.430G>A (p.Glu144Lys) | ClinVar dbSNP |
12 | g.51916206G>C | CA384902989 | ACVRL1 | c.949G>C (p.Glu317Gln) c.1219G>C (p.Glu407Gln) c.697G>C (p.Glu233Gln) n.494G>C c.1261G>C (p.Glu421Gln) c.224G>C c.430G>C (p.Glu144Gln) | |
12 | g.51916206G= | CA2036237123 | ACVRL1 | c.949G= (p.Glu317=) c.1219G= (p.Glu407=) c.697G= (p.Glu233=) n.494G= c.1261G= (p.Glu421=) c.224G= c.430G= (p.Glu144=) | |
12 | g.51916206G>T | CA384902990 | ACVRL1 | c.949G>T (p.Glu317Ter) c.1219G>T (p.Glu407Ter) c.697G>T (p.Glu233Ter) n.494G>T c.1261G>T (p.Glu421Ter) c.224G>T c.430G>T (p.Glu144Ter) | |
12 | g.51916207A= | CA2036237124 | ACVRL1 | c.950A= (p.Glu317=) c.1220A= (p.Glu407=) c.698A= (p.Glu233=) n.495A= c.1262A= (p.Glu421=) c.225A= c.431A= (p.Glu144=) | |
12 | g.51916207A>C | CA384902998 | ACVRL1 | c.950A>C (p.Glu317Ala) c.1220A>C (p.Glu407Ala) c.698A>C (p.Glu233Ala) n.495A>C c.1262A>C (p.Glu421Ala) c.225A>C c.431A>C (p.Glu144Ala) | |
12 | g.51916207A>G | CA384902991 | ACVRL1 | c.950A>G (p.Glu317Gly) c.1220A>G (p.Glu407Gly) c.698A>G (p.Glu233Gly) n.495A>G c.1262A>G (p.Glu421Gly) c.225A>G c.431A>G (p.Glu144Gly) | ClinVar dbSNP |
12 | g.51916207A>T | CA384902996 | ACVRL1 | c.950A>T (p.Glu317Val) c.1220A>T (p.Glu407Val) c.698A>T (p.Glu233Val) n.495A>T c.1262A>T (p.Glu421Val) c.225A>T c.431A>T (p.Glu144Val) | |
12 | g.51916208G>A | CA479811624 | ACVRL1 | c.951G>A (p.Glu317=) c.1221G>A (p.Glu407=) c.699G>A (p.Glu233=) n.496G>A c.1263G>A (p.Glu421=) c.226G>A c.432G>A (p.Glu144=) | |
12 | g.51916208G>C | CA384903000 | ACVRL1 | c.951G>C (p.Glu317Asp) c.1221G>C (p.Glu407Asp) c.699G>C (p.Glu233Asp) n.496G>C c.1263G>C (p.Glu421Asp) c.226G>C c.432G>C (p.Glu144Asp) | |
12 | g.51916208G= | CA2036237125 | ACVRL1 | c.951G= (p.Glu317=) c.1221G= (p.Glu407=) c.699G= (p.Glu233=) n.496G= c.1263G= (p.Glu421=) c.226G= c.432G= (p.Glu144=) | |
12 | g.51916208G>T | CA384903002 | ACVRL1 | c.951G>T (p.Glu317Asp) c.1221G>T (p.Glu407Asp) c.699G>T (p.Glu233Asp) n.496G>T c.1263G>T (p.Glu421Asp) c.226G>T c.432G>T (p.Glu144Asp) | ClinVar dbSNP |
12 | g.51916209A>C | CA384903004 | ACVRL1 | c.952A>C (p.Ile318Leu) c.1222A>C (p.Ile408Leu) c.700A>C (p.Ile234Leu) n.497A>C c.1264A>C (p.Ile422Leu) c.227A>C c.433A>C (p.Ile145Leu) | |
12 | g.51916209A>G | CA384903006 | ACVRL1 | c.952A>G (p.Ile318Val) c.1222A>G (p.Ile408Val) c.700A>G (p.Ile234Val) n.497A>G c.1264A>G (p.Ile422Val) c.227A>G c.433A>G (p.Ile145Val) | |
12 | g.51916209A>T | CA384903007 | ACVRL1 | c.952A>T (p.Ile318Phe) c.1222A>T (p.Ile408Phe) c.700A>T (p.Ile234Phe) n.497A>T c.1264A>T (p.Ile422Phe) c.227A>T c.433A>T (p.Ile145Phe) | |
12 | g.51916210T>A | CA384903008 | ACVRL1 | c.953T>A (p.Ile318Asn) c.1223T>A (p.Ile408Asn) c.701T>A (p.Ile234Asn) n.498T>A c.1265T>A (p.Ile422Asn) c.228T>A c.434T>A (p.Ile145Asn) | |
12 | g.51916210T>C | CA384903009 | ACVRL1 | c.953T>C (p.Ile318Thr) c.1223T>C (p.Ile408Thr) c.701T>C (p.Ile234Thr) n.498T>C c.1265T>C (p.Ile422Thr) c.228T>C c.434T>C (p.Ile145Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51916210T>G | CA384903010 | ACVRL1 | c.953T>G (p.Ile318Ser) c.1223T>G (p.Ile408Ser) c.701T>G (p.Ile234Ser) n.498T>G c.1265T>G (p.Ile422Ser) c.228T>G c.434T>G (p.Ile145Ser) | |
12 | g.51916210T= | CA2036237126 | ACVRL1 | c.953T= (p.Ile318=) c.1223T= (p.Ile408=) c.701T= (p.Ile234=) n.498T= c.1265T= (p.Ile422=) c.228T= c.434T= (p.Ile145=) | |
12 | g.51916211T>A | CA479811663 | ACVRL1 | c.954T>A (p.Ile318=) c.1224T>A (p.Ile408=) c.702T>A (p.Ile234=) n.499T>A c.1266T>A (p.Ile422=) c.229T>A c.435T>A (p.Ile145=) | |
12 | g.51916211T>C | CA479811668 | ACVRL1 | c.954T>C (p.Ile318=) c.1224T>C (p.Ile408=) c.702T>C (p.Ile234=) n.499T>C c.1266T>C (p.Ile422=) c.229T>C c.435T>C (p.Ile145=) | |
12 | g.51916211T>G | CA384903012 | ACVRL1 | c.954T>G (p.Ile318Met) c.1224T>G (p.Ile408Met) c.702T>G (p.Ile234Met) n.499T>G c.1266T>G (p.Ile422Met) c.229T>G c.435T>G (p.Ile145Met) | |
12 | g.51916212G>A | CA384903013 | ACVRL1 | c.955G>A (p.Ala319Thr) c.1225G>A (p.Ala409Thr) c.703G>A (p.Ala235Thr) n.500G>A c.1267G>A (p.Ala423Thr) c.230G>A c.436G>A (p.Ala146Thr) | |
12 | g.51916212G>C | CA384903015 | ACVRL1 | c.955G>C (p.Ala319Pro) c.1225G>C (p.Ala409Pro) c.703G>C (p.Ala235Pro) n.500G>C c.1267G>C (p.Ala423Pro) c.230G>C c.436G>C (p.Ala146Pro) | |
12 | g.51916212G>T | CA384903016 | ACVRL1 | c.955G>T (p.Ala319Ser) c.1225G>T (p.Ala409Ser) c.703G>T (p.Ala235Ser) n.500G>T c.1267G>T (p.Ala423Ser) c.230G>T c.436G>T (p.Ala146Ser) | |
12 | g.51916213C>A | CA384903018 | ACVRL1 | c.956C>A (p.Ala319Asp) c.1226C>A (p.Ala409Asp) c.704C>A (p.Ala235Asp) n.501C>A c.1268C>A (p.Ala423Asp) c.231C>A c.437C>A (p.Ala146Asp) | |
12 | g.51916213C>G | CA384903019 | ACVRL1 | c.956C>G (p.Ala319Gly) c.1226C>G (p.Ala409Gly) c.704C>G (p.Ala235Gly) n.501C>G c.1268C>G (p.Ala423Gly) c.231C>G c.437C>G (p.Ala146Gly) | |
12 | g.51916213C>T | CA384903017 | ACVRL1 | c.956C>T (p.Ala319Val) c.1226C>T (p.Ala409Val) c.704C>T (p.Ala235Val) n.501C>T c.1268C>T (p.Ala423Val) c.231C>T c.437C>T (p.Ala146Val) | |
12 | g.51916214C>A | CA6573089 | ACVRL1 | c.957C>A (p.Ala319=) c.1227C>A (p.Ala409=) c.705C>A (p.Ala235=) n.502C>A c.1269C>A (p.Ala423=) c.232C>A c.438C>A (p.Ala146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916214C= | CA2036237127 | ACVRL1 | c.957C= (p.Ala319=) c.1227C= (p.Ala409=) c.705C= (p.Ala235=) n.502C= c.1269C= (p.Ala423=) c.232C= c.438C= (p.Ala146=) | |
12 | g.51916214C>G | CA479811698 | ACVRL1 | c.957C>G (p.Ala319=) c.1227C>G (p.Ala409=) c.705C>G (p.Ala235=) n.502C>G c.1269C>G (p.Ala423=) c.232C>G c.438C>G (p.Ala146=) | |
12 | g.51916214C>T | CA479811702 | ACVRL1 | c.957C>T (p.Ala319=) c.1227C>T (p.Ala409=) c.705C>T (p.Ala235=) n.502C>T c.1269C>T (p.Ala423=) c.232C>T c.438C>T (p.Ala146=) | |
12 | g.51916215C>A | CA384903020 | ACVRL1 | c.958C>A (p.Arg320Ser) c.1228C>A (p.Arg410Ser) c.706C>A (p.Arg236Ser) n.503C>A c.1270C>A (p.Arg424Ser) c.233C>A c.439C>A (p.Arg147Ser) | |
12 | g.51916215C= | CA2036237129 | ACVRL1 | c.958C= (p.Arg320=) c.1228C= (p.Arg410=) c.706C= (p.Arg236=) n.503C= c.1270C= (p.Arg424=) c.233C= c.439C= (p.Arg147=) | |
12 | g.51916215C>G | CA384903021 | ACVRL1 | c.958C>G (p.Arg320Gly) c.1228C>G (p.Arg410Gly) c.706C>G (p.Arg236Gly) n.503C>G c.1270C>G (p.Arg424Gly) c.233C>G c.439C>G (p.Arg147Gly) | |
12 | g.51916215C>T | CA6573090 | ACVRL1 | c.958C>T (p.Arg320Cys) c.1228C>T (p.Arg410Cys) c.706C>T (p.Arg236Cys) n.503C>T c.1270C>T (p.Arg424Cys) c.233C>T c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51916216G>A | CA6573091 | ACVRL1 | c.959G>A (p.Arg320His) c.1229G>A (p.Arg410His) c.707G>A (p.Arg236His) n.504G>A c.1271G>A (p.Arg424His) c.234G>A c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.51916216G>C | CA384903024 | ACVRL1 | c.959G>C (p.Arg320Pro) c.1229G>C (p.Arg410Pro) c.707G>C (p.Arg236Pro) n.504G>C c.1271G>C (p.Arg424Pro) c.234G>C c.440G>C (p.Arg147Pro) | |
12 | g.51916216G= | CA2036237130 | ACVRL1 | c.959G= (p.Arg320=) c.1229G= (p.Arg410=) c.707G= (p.Arg236=) n.504G= c.1271G= (p.Arg424=) c.234G= c.440G= (p.Arg147=) | |
12 | g.51916216G>T | CA384903026 | ACVRL1 | c.959G>T (p.Arg320Leu) c.1229G>T (p.Arg410Leu) c.707G>T (p.Arg236Leu) n.504G>T c.1271G>T (p.Arg424Leu) c.234G>T c.440G>T (p.Arg147Leu) | COSMIC COSMIC |
12 | g.51916217C>A | CA479811722 | ACVRL1 | c.960C>A (p.Arg320=) c.1230C>A (p.Arg410=) c.708C>A (p.Arg236=) n.505C>A c.1272C>A (p.Arg424=) c.235C>A c.441C>A (p.Arg147=) | |
12 | g.51916217C= | CA2036237131 | ACVRL1 | c.960C= (p.Arg320=) c.1230C= (p.Arg410=) c.708C= (p.Arg236=) n.505C= c.1272C= (p.Arg424=) c.235C= c.441C= (p.Arg147=) | |
12 | g.51916217C>G | CA479811725 | ACVRL1 | c.960C>G (p.Arg320=) c.1230C>G (p.Arg410=) c.708C>G (p.Arg236=) n.505C>G c.1272C>G (p.Arg424=) c.235C>G c.441C>G (p.Arg147=) | |
12 | g.51916217C>T | CA479811726 | ACVRL1 | c.960C>T (p.Arg320=) c.1230C>T (p.Arg410=) c.708C>T (p.Arg236=) n.505C>T c.1272C>T (p.Arg424=) c.235C>T c.441C>T (p.Arg147=) | |
12 | g.51916218C>A | CA479811732 | ACVRL1 | c.961C>A (p.Arg321=) c.1231C>A (p.Arg411=) c.709C>A (p.Arg237=) n.506C>A c.1273C>A (p.Arg425=) c.236C>A c.442C>A (p.Arg148=) | |
12 | g.51916218C= | CA2036237134 | ACVRL1 | c.961C= (p.Arg321=) c.1231C= (p.Arg411=) c.709C= (p.Arg237=) n.506C= c.1273C= (p.Arg425=) c.236C= c.442C= (p.Arg148=) | |
12 | g.51916218C>G | CA384903028 | ACVRL1 | c.961C>G (p.Arg321Gly) c.1231C>G (p.Arg411Gly) c.709C>G (p.Arg237Gly) n.506C>G c.1273C>G (p.Arg425Gly) c.236C>G c.442C>G (p.Arg148Gly) | |
12 | g.51916218C>T | CA119402 | ACVRL1 | c.961C>T (p.Arg321Trp) c.1231C>T (p.Arg411Trp) c.709C>T (p.Arg237Trp) n.506C>T c.1273C>T (p.Arg425Trp) c.236C>T c.442C>T (p.Arg148Trp) | ClinVar dbSNP gnomAD v4 |
12 | g.51916218_51916237dup | CA916081673 | ACVRL1 | c.961_976+4dup c.1231_1246+4dup c.709_724+4dup n.506_521+4dup c.1273_1288+4dup c.236_251+4dup c.442_457+4dup | ClinVar dbSNP |
12 | g.51916219G>A | CA119395 | ACVRL1 | c.962G>A (p.Arg321Gln) c.1232G>A (p.Arg411Gln) c.710G>A (p.Arg237Gln) n.507G>A c.1274G>A (p.Arg425Gln) c.237G>A c.443G>A (p.Arg148Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51916219G>C | CA119413 | ACVRL1 | c.962G>C (p.Arg321Pro) c.1232G>C (p.Arg411Pro) c.710G>C (p.Arg237Pro) n.507G>C c.1274G>C (p.Arg425Pro) c.237G>C c.443G>C (p.Arg148Pro) | ClinVar dbSNP |
12 | g.51916219G= | CA2036237141 | ACVRL1 | c.962G= (p.Arg321=) c.1232G= (p.Arg411=) c.710G= (p.Arg237=) n.507G= c.1274G= (p.Arg425=) c.237G= c.443G= (p.Arg148=) | |
12 | g.51916219G>T | CA384903038 | ACVRL1 | c.962G>T (p.Arg321Leu) c.1232G>T (p.Arg411Leu) c.710G>T (p.Arg237Leu) n.507G>T c.1274G>T (p.Arg425Leu) c.237G>T c.443G>T (p.Arg148Leu) | gnomAD v4 |
12 | g.51916220G>A | CA479811754 | ACVRL1 | c.963G>A (p.Arg321=) c.1233G>A (p.Arg411=) c.711G>A (p.Arg237=) n.508G>A c.1275G>A (p.Arg425=) c.238G>A c.444G>A (p.Arg148=) | |
12 | g.51916220G>C | CA479811750 | ACVRL1 | c.963G>C (p.Arg321=) c.1233G>C (p.Arg411=) c.711G>C (p.Arg237=) n.508G>C c.1275G>C (p.Arg425=) c.238G>C c.444G>C (p.Arg148=) | gnomAD v4 |
12 | g.51916220G>T | CA479811747 | ACVRL1 | c.963G>T (p.Arg321=) c.1233G>T (p.Arg411=) c.711G>T (p.Arg237=) n.508G>T c.1275G>T (p.Arg425=) c.238G>T c.444G>T (p.Arg148=) | |
12 | g.51916221A>C | CA384903043 | ACVRL1 | c.964A>C (p.Thr322Pro) c.1234A>C (p.Thr412Pro) c.712A>C (p.Thr238Pro) n.509A>C c.1276A>C (p.Thr426Pro) c.239A>C c.445A>C (p.Thr149Pro) | |
12 | g.51916221A>G | CA384903044 | ACVRL1 | c.964A>G (p.Thr322Ala) c.1234A>G (p.Thr412Ala) c.712A>G (p.Thr238Ala) n.509A>G c.1276A>G (p.Thr426Ala) c.239A>G c.445A>G (p.Thr149Ala) | |
12 | g.51916221A>T | CA384903041 | ACVRL1 | c.964A>T (p.Thr322Ser) c.1234A>T (p.Thr412Ser) c.712A>T (p.Thr238Ser) n.509A>T c.1276A>T (p.Thr426Ser) c.239A>T c.445A>T (p.Thr149Ser) | |
12 | g.51916222C>A | CA384903047 | ACVRL1 | c.965C>A (p.Thr322Asn) c.1235C>A (p.Thr412Asn) c.713C>A (p.Thr238Asn) n.510C>A c.1277C>A (p.Thr426Asn) c.240C>A c.446C>A (p.Thr149Asn) | ClinVar |
12 | g.51916222C>G | CA384903048 | ACVRL1 | c.965C>G (p.Thr322Ser) c.1235C>G (p.Thr412Ser) c.713C>G (p.Thr238Ser) n.510C>G c.1277C>G (p.Thr426Ser) c.240C>G c.446C>G (p.Thr149Ser) | |
12 | g.51916222C>T | CA384903050 | ACVRL1 | c.965C>T (p.Thr322Ile) c.1235C>T (p.Thr412Ile) c.713C>T (p.Thr238Ile) n.510C>T c.1277C>T (p.Thr426Ile) c.240C>T c.446C>T (p.Thr149Ile) | |
12 | g.51916223C>A | CA6573092 | ACVRL1 | c.966C>A (p.Thr322=) c.1236C>A (p.Thr412=) c.714C>A (p.Thr238=) n.511C>A c.1278C>A (p.Thr426=) c.241C>A c.447C>A (p.Thr149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916223C= | CA2036237153 | ACVRL1 | c.966C= (p.Thr322=) c.1236C= (p.Thr412=) c.714C= (p.Thr238=) n.511C= c.1278C= (p.Thr426=) c.241C= c.447C= (p.Thr149=) | |
12 | g.51916223C>G | CA479811772 | ACVRL1 | c.966C>G (p.Thr322=) c.1236C>G (p.Thr412=) c.714C>G (p.Thr238=) n.511C>G c.1278C>G (p.Thr426=) c.241C>G c.447C>G (p.Thr149=) | |
12 | g.51916223C>T | CA479811774 | ACVRL1 | c.966C>T (p.Thr322=) c.1236C>T (p.Thr412=) c.714C>T (p.Thr238=) n.511C>T c.1278C>T (p.Thr426=) c.241C>T c.447C>T (p.Thr149=) | |
12 | g.51916224A= | CA2036237156 | ACVRL1 | c.967A= (p.Ile323=) c.1237A= (p.Ile413=) c.715A= (p.Ile239=) n.512A= c.1279A= (p.Ile427=) c.242A= c.448A= (p.Ile150=) | |
12 | g.51916224A>C | CA384903051 | ACVRL1 | c.967A>C (p.Ile323Leu) c.1237A>C (p.Ile413Leu) c.715A>C (p.Ile239Leu) n.512A>C c.1279A>C (p.Ile427Leu) c.242A>C c.448A>C (p.Ile150Leu) | |
12 | g.51916224A>G | CA6573093 | ACVRL1 | c.967A>G (p.Ile323Val) c.1237A>G (p.Ile413Val) c.715A>G (p.Ile239Val) n.512A>G c.1279A>G (p.Ile427Val) c.242A>G c.448A>G (p.Ile150Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916224A>T | CA384903054 | ACVRL1 | c.967A>T (p.Ile323Phe) c.1237A>T (p.Ile413Phe) c.715A>T (p.Ile239Phe) n.512A>T c.1279A>T (p.Ile427Phe) c.242A>T c.448A>T (p.Ile150Phe) | |
12 | g.51916225T>A | CA384903055 | ACVRL1 | c.968T>A (p.Ile323Asn) c.1238T>A (p.Ile413Asn) c.716T>A (p.Ile239Asn) n.513T>A c.1280T>A (p.Ile427Asn) c.243T>A c.449T>A (p.Ile150Asn) | |
12 | g.51916225T>C | CA384903058 | ACVRL1 | c.968T>C (p.Ile323Thr) c.1238T>C (p.Ile413Thr) c.716T>C (p.Ile239Thr) n.513T>C c.1280T>C (p.Ile427Thr) c.243T>C c.449T>C (p.Ile150Thr) | |
12 | g.51916225T>G | CA384903057 | ACVRL1 | c.968T>G (p.Ile323Ser) c.1238T>G (p.Ile413Ser) c.716T>G (p.Ile239Ser) n.513T>G c.1280T>G (p.Ile427Ser) c.243T>G c.449T>G (p.Ile150Ser) | |
12 | g.51916226C>A | CA479811795 | ACVRL1 | c.969C>A (p.Ile323=) c.1239C>A (p.Ile413=) c.717C>A (p.Ile239=) n.514C>A c.1281C>A (p.Ile427=) c.244C>A c.450C>A (p.Ile150=) | |
12 | g.51916226C= | CA2036237161 | ACVRL1 | c.969C= (p.Ile323=) c.1239C= (p.Ile413=) c.717C= (p.Ile239=) n.514C= c.1281C= (p.Ile427=) c.244C= c.450C= (p.Ile150=) | |
12 | g.51916226C>G | CA384903060 | ACVRL1 | c.969C>G (p.Ile323Met) c.1239C>G (p.Ile413Met) c.717C>G (p.Ile239Met) n.514C>G c.1281C>G (p.Ile427Met) c.244C>G c.450C>G (p.Ile150Met) | |
12 | g.51916226C>T | CA6573094 | ACVRL1 | c.969C>T (p.Ile323=) c.1239C>T (p.Ile413=) c.717C>T (p.Ile239=) n.514C>T c.1281C>T (p.Ile427=) c.244C>T c.450C>T (p.Ile150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51916227G>A | CA6573095 | ACVRL1 | c.970G>A (p.Val324Met) c.1240G>A (p.Val414Met) c.718G>A (p.Val240Met) n.515G>A c.1282G>A (p.Val428Met) c.245G>A c.451G>A (p.Val151Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51916227G>C | CA384903062 | ACVRL1 | c.970G>C (p.Val324Leu) c.1240G>C (p.Val414Leu) c.718G>C (p.Val240Leu) n.515G>C c.1282G>C (p.Val428Leu) c.245G>C c.451G>C (p.Val151Leu) | |
12 | g.51916227G= | CA2036237167 | ACVRL1 | c.970G= (p.Val324=) c.1240G= (p.Val414=) c.718G= (p.Val240=) n.515G= c.1282G= (p.Val428=) c.245G= c.451G= (p.Val151=) | |
12 | g.51916227G>T | CA384903063 | ACVRL1 | c.970G>T (p.Val324Leu) c.1240G>T (p.Val414Leu) c.718G>T (p.Val240Leu) n.515G>T c.1282G>T (p.Val428Leu) c.245G>T c.451G>T (p.Val151Leu) | |
12 | g.51916228T>A | CA384903066 | ACVRL1 | c.971T>A (p.Val324Glu) c.1241T>A (p.Val414Glu) c.719T>A (p.Val240Glu) n.516T>A c.1283T>A (p.Val428Glu) c.246T>A c.452T>A (p.Val151Glu) | |
12 | g.51916228T>C | CA384903067 | ACVRL1 | c.971T>C (p.Val324Ala) c.1241T>C (p.Val414Ala) c.719T>C (p.Val240Ala) n.516T>C c.1283T>C (p.Val428Ala) c.246T>C c.452T>C (p.Val151Ala) | |
12 | g.51916228T>G | CA384903065 | ACVRL1 | c.971T>G (p.Val324Gly) c.1241T>G (p.Val414Gly) c.719T>G (p.Val240Gly) n.516T>G c.1283T>G (p.Val428Gly) c.246T>G c.452T>G (p.Val151Gly) | |
12 | g.51916229G>A | CA479811823 | ACVRL1 | c.972G>A (p.Val324=) c.1242G>A (p.Val414=) c.720G>A (p.Val240=) n.517G>A c.1284G>A (p.Val428=) c.247G>A c.453G>A (p.Val151=) | |
12 | g.51916229G>C | CA479811826 | ACVRL1 | c.972G>C (p.Val324=) c.1242G>C (p.Val414=) c.720G>C (p.Val240=) n.517G>C c.1284G>C (p.Val428=) c.247G>C c.453G>C (p.Val151=) | |
12 | g.51916229G>T | CA479811829 | ACVRL1 | c.972G>T (p.Val324=) c.1242G>T (p.Val414=) c.720G>T (p.Val240=) n.517G>T c.1284G>T (p.Val428=) c.247G>T c.453G>T (p.Val151=) | |
12 | g.51916230A>C | CA384903069 | ACVRL1 | c.973A>C (p.Asn325His) c.1243A>C (p.Asn415His) c.721A>C (p.Asn241His) n.518A>C c.1285A>C (p.Asn429His) c.248A>C c.454A>C (p.Asn152His) | |
12 | g.51916230A>G | CA384903068 | ACVRL1 | c.973A>G (p.Asn325Asp) c.1243A>G (p.Asn415Asp) c.721A>G (p.Asn241Asp) n.518A>G c.1285A>G (p.Asn429Asp) c.248A>G c.454A>G (p.Asn152Asp) | |
12 | g.51916230A>T | CA384903070 | ACVRL1 | c.973A>T (p.Asn325Tyr) c.1243A>T (p.Asn415Tyr) c.721A>T (p.Asn241Tyr) n.518A>T c.1285A>T (p.Asn429Tyr) c.248A>T c.454A>T (p.Asn152Tyr) | |
12 | g.51916231A= | CA2036237173 | ACVRL1 | c.974A= (p.Asn325=) c.1244A= (p.Asn415=) c.722A= (p.Asn241=) n.519A= c.1286A= (p.Asn429=) c.249A= c.455A= (p.Asn152=) | |
12 | g.51916231A>C | CA384903072 | ACVRL1 | c.974A>C (p.Asn325Thr) c.1244A>C (p.Asn415Thr) c.722A>C (p.Asn241Thr) n.519A>C c.1286A>C (p.Asn429Thr) c.249A>C c.455A>C (p.Asn152Thr) | |
12 | g.51916231A>G | CA384903076 | ACVRL1 | c.974A>G (p.Asn325Ser) c.1244A>G (p.Asn415Ser) c.722A>G (p.Asn241Ser) n.519A>G c.1286A>G (p.Asn429Ser) c.249A>G c.455A>G (p.Asn152Ser) | dbSNP |
12 | g.51916231A>T | CA384903073 | ACVRL1 | c.974A>T (p.Asn325Ile) c.1244A>T (p.Asn415Ile) c.722A>T (p.Asn241Ile) n.519A>T c.1286A>T (p.Asn429Ile) c.249A>T c.455A>T (p.Asn152Ile) | |
12 | g.51916232T>A | CA384903078 | ACVRL1 | c.975T>A (p.Asn325Lys) c.1245T>A (p.Asn415Lys) c.723T>A (p.Asn241Lys) n.520T>A c.1287T>A (p.Asn429Lys) c.250T>A c.456T>A (p.Asn152Lys) | |
12 | g.51916232T>C | CA479811857 | ACVRL1 | c.975T>C (p.Asn325=) c.1245T>C (p.Asn415=) c.723T>C (p.Asn241=) n.520T>C c.1287T>C (p.Asn429=) c.250T>C c.456T>C (p.Asn152=) | |
12 | g.51916232T>G | CA384903081 | ACVRL1 | c.975T>G (p.Asn325Lys) c.1245T>G (p.Asn415Lys) c.723T>G (p.Asn241Lys) n.520T>G c.1287T>G (p.Asn429Lys) c.250T>G c.456T>G (p.Asn152Lys) | |
12 | g.51916233G>A | CA384903083 | ACVRL1 | c.976G>A (p.Gly326Ser) c.1246G>A (p.Gly416Ser) c.724G>A (p.Gly242Ser) n.521G>A c.1288G>A (p.Gly430Ser) c.251G>A c.457G>A (p.Gly153Ser) | ClinVar dbSNP |
12 | g.51916233G>C | CA384903088 | ACVRL1 | c.976G>C (p.Gly326Arg) c.1246G>C (p.Gly416Arg) c.724G>C (p.Gly242Arg) n.521G>C c.1288G>C (p.Gly430Arg) c.251G>C c.457G>C (p.Gly153Arg) | |
12 | g.51916233G= | CA2036237176 | ACVRL1 | c.976G= (p.Gly326=) c.1246G= (p.Gly416=) c.724G= (p.Gly242=) n.521G= c.1288G= (p.Gly430=) c.251G= c.457G= (p.Gly153=) | |
12 | g.51916233G>T | CA384903089 | ACVRL1 | c.976G>T (p.Gly326Cys) c.1246G>T (p.Gly416Cys) c.724G>T (p.Gly242Cys) n.521G>T c.1288G>T (p.Gly430Cys) c.251G>T c.457G>T (p.Gly153Cys) |