UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916049_51916067dup | CA2695216667 | ACVRL1 | c.792_810dup (p.Tyr271AlafsTer?) c.1062_1080dup (p.Tyr361AlafsTer?) c.540_558dup (p.Tyr187AlafsTer?) n.337_355dup c.1104_1122dup (p.Tyr375AlafsTer?) c.67_85dup c.273_291dup (p.Tyr98AlafsTer?) | |
| 12 | g.51916047A>C | CA384902019 | ACVRL1 | c.790A>C (p.Met264Leu) c.1060A>C (p.Met354Leu) c.538A>C (p.Met180Leu) n.335A>C c.1102A>C (p.Met368Leu) c.65A>C c.271A>C (p.Met91Leu) | |
| 12 | g.51916047A>G | CA384902023 | ACVRL1 | c.790A>G (p.Met264Val) c.1060A>G (p.Met354Val) c.538A>G (p.Met180Val) n.335A>G c.1102A>G (p.Met368Val) c.65A>G c.271A>G (p.Met91Val) | |
| 12 | g.51916047A>T | CA384902018 | ACVRL1 | c.790A>T (p.Met264Leu) c.1060A>T (p.Met354Leu) c.538A>T (p.Met180Leu) n.335A>T c.1102A>T (p.Met368Leu) c.65A>T c.271A>T (p.Met91Leu) | |
| 12 | g.51916048_51916055del | CA2695216669 | ACVRL1 | c.791_798del (p.Met264ThrfsTer?) c.1061_1068del (p.Met354ThrfsTer?) c.539_546del (p.Met180ThrfsTer?) n.336_343del c.1103_1110del (p.Met368ThrfsTer?) c.66_73del c.272_279del (p.Met91ThrfsTer?) | |
| 12 | g.51916048T>A | CA384902026 | ACVRL1 | c.791T>A (p.Met264Lys) c.1061T>A (p.Met354Lys) c.539T>A (p.Met180Lys) n.336T>A c.1103T>A (p.Met368Lys) c.66T>A c.272T>A (p.Met91Lys) | |
| 12 | g.51916048T>C | CA384902031 | ACVRL1 | c.791T>C (p.Met264Thr) c.1061T>C (p.Met354Thr) c.539T>C (p.Met180Thr) n.336T>C c.1103T>C (p.Met368Thr) c.66T>C c.272T>C (p.Met91Thr) | |
| 12 | g.51916048T>G | CA384902032 | ACVRL1 | c.791T>G (p.Met264Arg) c.1061T>G (p.Met354Arg) c.539T>G (p.Met180Arg) n.336T>G c.1103T>G (p.Met368Arg) c.66T>G c.272T>G (p.Met91Arg) | dbSNP |
| 12 | g.51916049G>A | CA384902035 | ACVRL1 | c.792G>A (p.Met264Ile) c.1062G>A (p.Met354Ile) c.540G>A (p.Met180Ile) n.337G>A c.1104G>A (p.Met368Ile) c.67G>A c.273G>A (p.Met91Ile) | |
| 12 | g.51916049G>C | CA384902036 | ACVRL1 | c.792G>C (p.Met264Ile) c.1062G>C (p.Met354Ile) c.540G>C (p.Met180Ile) n.337G>C c.1104G>C (p.Met368Ile) c.67G>C c.273G>C (p.Met91Ile) | |
| 12 | g.51916049G>T | CA384902037 | ACVRL1 | c.792G>T (p.Met264Ile) c.1062G>T (p.Met354Ile) c.540G>T (p.Met180Ile) n.337G>T c.1104G>T (p.Met368Ile) c.67G>T c.273G>T (p.Met91Ile) | |
| 12 | g.51916050C>A | CA384902041 | ACVRL1 | c.793C>A (p.His265Asn) c.1063C>A (p.His355Asn) c.541C>A (p.His181Asn) n.338C>A c.1105C>A (p.His369Asn) c.68C>A c.274C>A (p.His92Asn) | |
| 12 | g.51916050C= | CA2036236728 | ACVRL1 | c.793C= (p.His265=) c.1063C= (p.His355=) c.541C= (p.His181=) n.338C= c.1105C= (p.His369=) c.68C= c.274C= (p.His92=) | |
| 12 | g.51916050C>G | CA384902040 | ACVRL1 | c.793C>G (p.His265Asp) c.1063C>G (p.His355Asp) c.541C>G (p.His181Asp) n.338C>G c.1105C>G (p.His369Asp) c.68C>G c.274C>G (p.His92Asp) | |
| 12 | g.51916050C>T | CA384902038 | ACVRL1 | c.793C>T (p.His265Tyr) c.1063C>T (p.His355Tyr) c.541C>T (p.His181Tyr) n.338C>T c.1105C>T (p.His369Tyr) c.68C>T c.274C>T (p.His92Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916051A= | CA2036236730 | ACVRL1 | c.794A= (p.His265=) c.1064A= (p.His355=) c.542A= (p.His181=) n.339A= c.1106A= (p.His369=) c.69A= c.275A= (p.His92=) | |
| 12 | g.51916051A>C | CA6573060 | ACVRL1 | c.794A>C (p.His265Pro) c.1064A>C (p.His355Pro) c.542A>C (p.His181Pro) n.339A>C c.1106A>C (p.His369Pro) c.69A>C c.275A>C (p.His92Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916051A>G | CA384902043 | ACVRL1 | c.794A>G (p.His265Arg) c.1064A>G (p.His355Arg) c.542A>G (p.His181Arg) n.339A>G c.1106A>G (p.His369Arg) c.69A>G c.275A>G (p.His92Arg) | |
| 12 | g.51916051A>T | CA384902046 | ACVRL1 | c.794A>T (p.His265Leu) c.1064A>T (p.His355Leu) c.542A>T (p.His181Leu) n.339A>T c.1106A>T (p.His369Leu) c.69A>T c.275A>T (p.His92Leu) | |
| 12 | g.51916052C>A | CA384902048 | ACVRL1 | c.795C>A (p.His265Gln) c.1065C>A (p.His355Gln) c.543C>A (p.His181Gln) n.340C>A c.1107C>A (p.His369Gln) c.70C>A c.276C>A (p.His92Gln) | |
| 12 | g.51916052C= | CA2036236733 | ACVRL1 | c.795C= (p.His265=) c.1065C= (p.His355=) c.543C= (p.His181=) n.340C= c.1107C= (p.His369=) c.70C= c.276C= (p.His92=) | |
| 12 | g.51916052C>G | CA384902049 | ACVRL1 | c.795C>G (p.His265Gln) c.1065C>G (p.His355Gln) c.543C>G (p.His181Gln) n.340C>G c.1107C>G (p.His369Gln) c.70C>G c.276C>G (p.His92Gln) | gnomAD v4 |
| 12 | g.51916052C>T | CA236364822 | ACVRL1 | c.795C>T (p.His265=) c.1065C>T (p.His355=) c.543C>T (p.His181=) n.340C>T c.1107C>T (p.His369=) c.70C>T c.276C>T (p.His92=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916053T>A | CA384902061 | ACVRL1 | c.796T>A (p.Ser266Thr) c.1066T>A (p.Ser356Thr) c.544T>A (p.Ser182Thr) n.341T>A c.1108T>A (p.Ser370Thr) c.71T>A c.277T>A (p.Ser93Thr) | |
| 12 | g.51916053T>C | CA384902066 | ACVRL1 | c.796T>C (p.Ser266Pro) c.1066T>C (p.Ser356Pro) c.544T>C (p.Ser182Pro) n.341T>C c.1108T>C (p.Ser370Pro) c.71T>C c.277T>C (p.Ser93Pro) | |
| 12 | g.51916053T>G | CA384902063 | ACVRL1 | c.796T>G (p.Ser266Ala) c.1066T>G (p.Ser356Ala) c.544T>G (p.Ser182Ala) n.341T>G c.1108T>G (p.Ser370Ala) c.71T>G c.277T>G (p.Ser93Ala) | |
| 12 | g.51916054C>A | CA384902067 | ACVRL1 | c.797C>A (p.Ser266Ter) c.1067C>A (p.Ser356Ter) c.545C>A (p.Ser182Ter) n.342C>A c.1109C>A (p.Ser370Ter) c.72C>A c.278C>A (p.Ser93Ter) | |
| 12 | g.51916054C= | CA2036236736 | ACVRL1 | c.797C= (p.Ser266=) c.1067C= (p.Ser356=) c.545C= (p.Ser182=) n.342C= c.1109C= (p.Ser370=) c.72C= c.278C= (p.Ser93=) | |
| 12 | g.51916054C>G | CA384902068 | ACVRL1 | c.797C>G (p.Ser266Ter) c.1067C>G (p.Ser356Ter) c.545C>G (p.Ser182Ter) n.342C>G c.1109C>G (p.Ser370Ter) c.72C>G c.278C>G (p.Ser93Ter) | |
| 12 | g.51916054C>T | CA384902070 | ACVRL1 | c.797C>T (p.Ser266Leu) c.1067C>T (p.Ser356Leu) c.545C>T (p.Ser182Leu) n.342C>T c.1109C>T (p.Ser370Leu) c.72C>T c.278C>T (p.Ser93Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916055A>C | CA479810087 | ACVRL1 | c.798A>C (p.Ser266=) c.1068A>C (p.Ser356=) c.546A>C (p.Ser182=) n.343A>C c.1110A>C (p.Ser370=) c.73A>C c.279A>C (p.Ser93=) | |
| 12 | g.51916055A>G | CA479810086 | ACVRL1 | c.798A>G (p.Ser266=) c.1068A>G (p.Ser356=) c.546A>G (p.Ser182=) n.343A>G c.1110A>G (p.Ser370=) c.73A>G c.279A>G (p.Ser93=) | gnomAD v4 |
| 12 | g.51916055A>T | CA479810082 | ACVRL1 | c.798A>T (p.Ser266=) c.1068A>T (p.Ser356=) c.546A>T (p.Ser182=) n.343A>T c.1110A>T (p.Ser370=) c.73A>T c.279A>T (p.Ser93=) | |
| 12 | g.51916056C>A | CA384902077 | ACVRL1 | c.799C>A (p.Gln267Lys) c.1069C>A (p.Gln357Lys) c.547C>A (p.Gln183Lys) n.344C>A c.1111C>A (p.Gln371Lys) c.74C>A c.280C>A (p.Gln94Lys) | |
| 12 | g.51916056C>G | CA384902078 | ACVRL1 | c.799C>G (p.Gln267Glu) c.1069C>G (p.Gln357Glu) c.547C>G (p.Gln183Glu) n.344C>G c.1111C>G (p.Gln371Glu) c.74C>G c.280C>G (p.Gln94Glu) | |
| 12 | g.51916056C>T | CA384902081 | ACVRL1 | c.799C>T (p.Gln267Ter) c.1069C>T (p.Gln357Ter) c.547C>T (p.Gln183Ter) n.344C>T c.1111C>T (p.Gln371Ter) c.74C>T c.280C>T (p.Gln94Ter) | ClinVar dbSNP |
| 12 | g.51916057A= | CA2036236738 | ACVRL1 | c.800A= (p.Gln267=) c.1070A= (p.Gln357=) c.548A= (p.Gln183=) n.345A= c.1112A= (p.Gln371=) c.75A= c.281A= (p.Gln94=) | |
| 12 | g.51916057A>C | CA6573061 | ACVRL1 | c.800A>C (p.Gln267Pro) c.1070A>C (p.Gln357Pro) c.548A>C (p.Gln183Pro) n.345A>C c.1112A>C (p.Gln371Pro) c.75A>C c.281A>C (p.Gln94Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916057A>G | CA384902084 | ACVRL1 | c.800A>G (p.Gln267Arg) c.1070A>G (p.Gln357Arg) c.548A>G (p.Gln183Arg) n.345A>G c.1112A>G (p.Gln371Arg) c.75A>G c.281A>G (p.Gln94Arg) | dbSNP |
| 12 | g.51916057A>T | CA384902085 | ACVRL1 | c.800A>T (p.Gln267Leu) c.1070A>T (p.Gln357Leu) c.548A>T (p.Gln183Leu) n.345A>T c.1112A>T (p.Gln371Leu) c.75A>T c.281A>T (p.Gln94Leu) | |
| 12 | g.51916058G>A | CA479810108 | ACVRL1 | c.801G>A (p.Gln267=) c.1071G>A (p.Gln357=) c.549G>A (p.Gln183=) n.346G>A c.1113G>A (p.Gln371=) c.76G>A c.282G>A (p.Gln94=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916058G>C | CA384902086 | ACVRL1 | c.801G>C (p.Gln267His) c.1071G>C (p.Gln357His) c.549G>C (p.Gln183His) n.346G>C c.1113G>C (p.Gln371His) c.76G>C c.282G>C (p.Gln94His) | |
| 12 | g.51916058G= | CA2036236743 | ACVRL1 | c.801G= (p.Gln267=) c.1071G= (p.Gln357=) c.549G= (p.Gln183=) n.346G= c.1113G= (p.Gln371=) c.76G= c.282G= (p.Gln94=) | |
| 12 | g.51916058G>T | CA384902089 | ACVRL1 | c.801G>T (p.Gln267His) c.1071G>T (p.Gln357His) c.549G>T (p.Gln183His) n.346G>T c.1113G>T (p.Gln371His) c.76G>T c.282G>T (p.Gln94His) | |
| 12 | g.51916060del | CA2499221749 | ACVRL1 | c.803del (p.Gly268AlafsTer?) c.1073del (p.Gly358AlafsTer?) c.551del (p.Gly184AlafsTer?) n.348del c.1115del (p.Gly372AlafsTer?) c.78del c.284del (p.Gly95AlafsTer?) | ClinVar dbSNP |
| 12 | g.51916059G>A | CA384902092 | ACVRL1 | c.802G>A (p.Gly268Ser) c.1072G>A (p.Gly358Ser) c.550G>A (p.Gly184Ser) n.347G>A c.1114G>A (p.Gly372Ser) c.77G>A c.283G>A (p.Gly95Ser) | |
| 12 | g.51916059G>C | CA384902101 | ACVRL1 | c.802G>C (p.Gly268Arg) c.1072G>C (p.Gly358Arg) c.550G>C (p.Gly184Arg) n.347G>C c.1114G>C (p.Gly372Arg) c.77G>C c.283G>C (p.Gly95Arg) | |
| 12 | g.51916059G>T | CA384902094 | ACVRL1 | c.802G>T (p.Gly268Cys) c.1072G>T (p.Gly358Cys) c.550G>T (p.Gly184Cys) n.347G>T c.1114G>T (p.Gly372Cys) c.77G>T c.283G>T (p.Gly95Cys) | |
| 12 | g.51916060G>A | CA384902104 | ACVRL1 | c.803G>A (p.Gly268Asp) c.1073G>A (p.Gly358Asp) c.551G>A (p.Gly184Asp) n.348G>A c.1115G>A (p.Gly372Asp) c.78G>A c.284G>A (p.Gly95Asp) | |
| 12 | g.51916060G>C | CA384902107 | ACVRL1 | c.803G>C (p.Gly268Ala) c.1073G>C (p.Gly358Ala) c.551G>C (p.Gly184Ala) n.348G>C c.1115G>C (p.Gly372Ala) c.78G>C c.284G>C (p.Gly95Ala) | |
| 12 | g.51916060G>T | CA384902109 | ACVRL1 | c.803G>T (p.Gly268Val) c.1073G>T (p.Gly358Val) c.551G>T (p.Gly184Val) n.348G>T c.1115G>T (p.Gly372Val) c.78G>T c.284G>T (p.Gly95Val) | |
| 12 | g.51916061C>A | CA479810144 | ACVRL1 | c.804C>A (p.Gly268=) c.1074C>A (p.Gly358=) c.552C>A (p.Gly184=) n.349C>A c.1116C>A (p.Gly372=) c.79C>A c.285C>A (p.Gly95=) | |
| 12 | g.51916061C= | CA2036236749 | ACVRL1 | c.804C= (p.Gly268=) c.1074C= (p.Gly358=) c.552C= (p.Gly184=) n.349C= c.1116C= (p.Gly372=) c.79C= c.285C= (p.Gly95=) | |
| 12 | g.51916061C>G | CA479810137 | ACVRL1 | c.804C>G (p.Gly268=) c.1074C>G (p.Gly358=) c.552C>G (p.Gly184=) n.349C>G c.1116C>G (p.Gly372=) c.79C>G c.285C>G (p.Gly95=) | |
| 12 | g.51916061C>T | CA479810140 | ACVRL1 | c.804C>T (p.Gly268=) c.1074C>T (p.Gly358=) c.552C>T (p.Gly184=) n.349C>T c.1116C>T (p.Gly372=) c.79C>T c.285C>T (p.Gly95=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916062A= | CA2036236753 | ACVRL1 | c.805A= (p.Ser269=) c.1075A= (p.Ser359=) c.553A= (p.Ser185=) n.350A= c.1117A= (p.Ser373=) c.80A= c.286A= (p.Ser96=) | |
| 12 | g.51916062A>C | CA384902110 | ACVRL1 | c.805A>C (p.Ser269Arg) c.1075A>C (p.Ser359Arg) c.553A>C (p.Ser185Arg) n.350A>C c.1117A>C (p.Ser373Arg) c.80A>C c.286A>C (p.Ser96Arg) | |
| 12 | g.51916062A>G | CA384902111 | ACVRL1 | c.805A>G (p.Ser269Gly) c.1075A>G (p.Ser359Gly) c.553A>G (p.Ser185Gly) n.350A>G c.1117A>G (p.Ser373Gly) c.80A>G c.286A>G (p.Ser96Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916062A>T | CA384902112 | ACVRL1 | c.805A>T (p.Ser269Cys) c.1075A>T (p.Ser359Cys) c.553A>T (p.Ser185Cys) n.350A>T c.1117A>T (p.Ser373Cys) c.80A>T c.286A>T (p.Ser96Cys) | |
| 12 | g.51916063G>A | CA384902113 | ACVRL1 | c.806G>A (p.Ser269Asn) c.1076G>A (p.Ser359Asn) c.554G>A (p.Ser185Asn) n.351G>A c.1118G>A (p.Ser373Asn) c.81G>A c.287G>A (p.Ser96Asn) | |
| 12 | g.51916063G>C | CA384902114 | ACVRL1 | c.806G>C (p.Ser269Thr) c.1076G>C (p.Ser359Thr) c.554G>C (p.Ser185Thr) n.351G>C c.1118G>C (p.Ser373Thr) c.81G>C c.287G>C (p.Ser96Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51916063G>T | CA384902115 | ACVRL1 | c.806G>T (p.Ser269Ile) c.1076G>T (p.Ser359Ile) c.554G>T (p.Ser185Ile) n.351G>T c.1118G>T (p.Ser373Ile) c.81G>T c.287G>T (p.Ser96Ile) | |
| 12 | g.51916064C>A | CA384902116 | ACVRL1 | c.807C>A (p.Ser269Arg) c.1077C>A (p.Ser359Arg) c.555C>A (p.Ser185Arg) n.352C>A c.1119C>A (p.Ser373Arg) c.82C>A c.288C>A (p.Ser96Arg) | |
| 12 | g.51916064C= | CA2036236755 | ACVRL1 | c.807C= (p.Ser269=) c.1077C= (p.Ser359=) c.555C= (p.Ser185=) n.352C= c.1119C= (p.Ser373=) c.82C= c.288C= (p.Ser96=) | |
| 12 | g.51916064C>G | CA384902117 | ACVRL1 | c.807C>G (p.Ser269Arg) c.1077C>G (p.Ser359Arg) c.555C>G (p.Ser185Arg) n.352C>G c.1119C>G (p.Ser373Arg) c.82C>G c.288C>G (p.Ser96Arg) | dbSNP |
| 12 | g.51916064C>T | CA479810164 | ACVRL1 | c.807C>T (p.Ser269=) c.1077C>T (p.Ser359=) c.555C>T (p.Ser185=) n.352C>T c.1119C>T (p.Ser373=) c.82C>T c.288C>T (p.Ser96=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51916065G>A | CA236364836 | ACVRL1 | c.808G>A (p.Asp270Asn) c.1078G>A (p.Asp360Asn) c.556G>A (p.Asp186Asn) n.353G>A c.1120G>A (p.Asp374Asn) c.83G>A c.289G>A (p.Asp97Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916065G>C | CA384902122 | ACVRL1 | c.808G>C (p.Asp270His) c.1078G>C (p.Asp360His) c.556G>C (p.Asp186His) n.353G>C c.1120G>C (p.Asp374His) c.83G>C c.289G>C (p.Asp97His) | |
| 12 | g.51916065G= | CA2036236757 | ACVRL1 | c.808G= (p.Asp270=) c.1078G= (p.Asp360=) c.556G= (p.Asp186=) n.353G= c.1120G= (p.Asp374=) c.83G= c.289G= (p.Asp97=) | |
| 12 | g.51916065G>T | CA384902120 | ACVRL1 | c.808G>T (p.Asp270Tyr) c.1078G>T (p.Asp360Tyr) c.556G>T (p.Asp186Tyr) n.353G>T c.1120G>T (p.Asp374Tyr) c.83G>T c.289G>T (p.Asp97Tyr) | gnomAD v4 |
| 12 | g.51916066A= | CA2036236760 | ACVRL1 | c.809A= (p.Asp270=) c.1079A= (p.Asp360=) c.557A= (p.Asp186=) n.354A= c.1121A= (p.Asp374=) c.84A= c.290A= (p.Asp97=) | |
| 12 | g.51916066A>C | CA384902125 | ACVRL1 | c.809A>C (p.Asp270Ala) c.1079A>C (p.Asp360Ala) c.557A>C (p.Asp186Ala) n.354A>C c.1121A>C (p.Asp374Ala) c.84A>C c.290A>C (p.Asp97Ala) | |
| 12 | g.51916066A>G | CA384902127 | ACVRL1 | c.809A>G (p.Asp270Gly) c.1079A>G (p.Asp360Gly) c.557A>G (p.Asp186Gly) n.354A>G c.1121A>G (p.Asp374Gly) c.84A>G c.290A>G (p.Asp97Gly) | dbSNP |
| 12 | g.51916066A>T | CA384902132 | ACVRL1 | c.809A>T (p.Asp270Val) c.1079A>T (p.Asp360Val) c.557A>T (p.Asp186Val) n.354A>T c.1121A>T (p.Asp374Val) c.84A>T c.290A>T (p.Asp97Val) | |
| 12 | g.51916067T>A | CA384902134 | ACVRL1 | c.810T>A (p.Asp270Glu) c.1080T>A (p.Asp360Glu) c.558T>A (p.Asp186Glu) n.355T>A c.1122T>A (p.Asp374Glu) c.85T>A c.291T>A (p.Asp97Glu) | |
| 12 | g.51916067T>C | CA479810186 | ACVRL1 | c.810T>C (p.Asp270=) c.1080T>C (p.Asp360=) c.558T>C (p.Asp186=) n.355T>C c.1122T>C (p.Asp374=) c.85T>C c.291T>C (p.Asp97=) | gnomAD v4 |
| 12 | g.51916067T>G | CA384902137 | ACVRL1 | c.810T>G (p.Asp270Glu) c.1080T>G (p.Asp360Glu) c.558T>G (p.Asp186Glu) n.355T>G c.1122T>G (p.Asp374Glu) c.85T>G c.291T>G (p.Asp97Glu) | |
| 12 | g.51916068T>A | CA384902139 | ACVRL1 | c.811T>A (p.Tyr271Asn) c.1081T>A (p.Tyr361Asn) c.559T>A (p.Tyr187Asn) n.356T>A c.1123T>A (p.Tyr375Asn) c.86T>A c.292T>A (p.Tyr98Asn) | |
| 12 | g.51916068T>C | CA384902142 | ACVRL1 | c.811T>C (p.Tyr271His) c.1081T>C (p.Tyr361His) c.559T>C (p.Tyr187His) n.356T>C c.1123T>C (p.Tyr375His) c.86T>C c.292T>C (p.Tyr98His) | |
| 12 | g.51916068T>G | CA384902143 | ACVRL1 | c.811T>G (p.Tyr271Asp) c.1081T>G (p.Tyr361Asp) c.559T>G (p.Tyr187Asp) n.356T>G c.1123T>G (p.Tyr375Asp) c.86T>G c.292T>G (p.Tyr98Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916068T= | CA2036236762 | ACVRL1 | c.811T= (p.Tyr271=) c.1081T= (p.Tyr361=) c.559T= (p.Tyr187=) n.356T= c.1123T= (p.Tyr375=) c.86T= c.292T= (p.Tyr98=) | |
| 12 | g.51916069A>C | CA384902146 | ACVRL1 | c.812A>C (p.Tyr271Ser) c.1082A>C (p.Tyr361Ser) c.560A>C (p.Tyr187Ser) n.357A>C c.1124A>C (p.Tyr375Ser) c.87A>C c.293A>C (p.Tyr98Ser) | |
| 12 | g.51916069A>G | CA384902147 | ACVRL1 | c.812A>G (p.Tyr271Cys) c.1082A>G (p.Tyr361Cys) c.560A>G (p.Tyr187Cys) n.357A>G c.1124A>G (p.Tyr375Cys) c.87A>G c.293A>G (p.Tyr98Cys) | |
| 12 | g.51916069A>T | CA384902154 | ACVRL1 | c.812A>T (p.Tyr271Phe) c.1082A>T (p.Tyr361Phe) c.560A>T (p.Tyr187Phe) n.357A>T c.1124A>T (p.Tyr375Phe) c.87A>T c.293A>T (p.Tyr98Phe) | |
| 12 | g.51916070C>A | CA6573062 | ACVRL1 | c.813C>A (p.Tyr271Ter) c.1083C>A (p.Tyr361Ter) c.561C>A (p.Tyr187Ter) n.358C>A c.1125C>A (p.Tyr375Ter) c.88C>A c.294C>A (p.Tyr98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916070C= | CA2036236764 | ACVRL1 | c.813C= (p.Tyr271=) c.1083C= (p.Tyr361=) c.561C= (p.Tyr187=) n.358C= c.1125C= (p.Tyr375=) c.88C= c.294C= (p.Tyr98=) | |
| 12 | g.51916070C>G | CA384902159 | ACVRL1 | c.813C>G (p.Tyr271Ter) c.1083C>G (p.Tyr361Ter) c.561C>G (p.Tyr187Ter) n.358C>G c.1125C>G (p.Tyr375Ter) c.88C>G c.294C>G (p.Tyr98Ter) | |
| 12 | g.51916070C>T | CA479810229 | ACVRL1 | c.813C>T (p.Tyr271=) c.1083C>T (p.Tyr361=) c.561C>T (p.Tyr187=) n.358C>T c.1125C>T (p.Tyr375=) c.88C>T c.294C>T (p.Tyr98=) | COSMIC COSMIC |
| 12 | g.51916071C>A | CA384902168 | ACVRL1 | c.814C>A (p.Leu272Met) c.1084C>A (p.Leu362Met) c.562C>A (p.Leu188Met) n.359C>A c.1126C>A (p.Leu376Met) c.89C>A c.295C>A (p.Leu99Met) | |
| 12 | g.51916071C= | CA2036236770 | ACVRL1 | c.814C= (p.Leu272=) c.1084C= (p.Leu362=) c.562C= (p.Leu188=) n.359C= c.1126C= (p.Leu376=) c.89C= c.295C= (p.Leu99=) | |
| 12 | g.51916071C>G | CA384902162 | ACVRL1 | c.814C>G (p.Leu272Val) c.1084C>G (p.Leu362Val) c.562C>G (p.Leu188Val) n.359C>G c.1126C>G (p.Leu376Val) c.89C>G c.295C>G (p.Leu99Val) | COSMIC COSMIC |
| 12 | g.51916071C>T | CA6573063 | ACVRL1 | c.814C>T (p.Leu272=) c.1084C>T (p.Leu362=) c.562C>T (p.Leu188=) n.359C>T c.1126C>T (p.Leu376=) c.89C>T c.295C>T (p.Leu99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916072T>A | CA384902175 | ACVRL1 | c.815T>A (p.Leu272Gln) c.1085T>A (p.Leu362Gln) c.563T>A (p.Leu188Gln) n.360T>A c.1127T>A (p.Leu376Gln) c.90T>A c.296T>A (p.Leu99Gln) | |
| 12 | g.51916072T>C | CA384902169 | ACVRL1 | c.815T>C (p.Leu272Pro) c.1085T>C (p.Leu362Pro) c.563T>C (p.Leu188Pro) n.360T>C c.1127T>C (p.Leu376Pro) c.90T>C c.296T>C (p.Leu99Pro) | |
| 12 | g.51916072T>G | CA384902179 | ACVRL1 | c.815T>G (p.Leu272Arg) c.1085T>G (p.Leu362Arg) c.563T>G (p.Leu188Arg) n.360T>G c.1127T>G (p.Leu376Arg) c.90T>G c.296T>G (p.Leu99Arg) | |
| 12 | g.51916073G>A | CA479810240 | ACVRL1 | c.816G>A (p.Leu272=) c.1086G>A (p.Leu362=) c.564G>A (p.Leu188=) n.361G>A c.1128G>A (p.Leu376=) c.91G>A c.297G>A (p.Leu99=) | |
| 12 | g.51916073G>C | CA479810244 | ACVRL1 | c.816G>C (p.Leu272=) c.1086G>C (p.Leu362=) c.564G>C (p.Leu188=) n.361G>C c.1128G>C (p.Leu376=) c.91G>C c.297G>C (p.Leu99=) | |
| 12 | g.51916073G>T | CA479810246 | ACVRL1 | c.816G>T (p.Leu272=) c.1086G>T (p.Leu362=) c.564G>T (p.Leu188=) n.361G>T c.1128G>T (p.Leu376=) c.91G>T c.297G>T (p.Leu99=) | |
| 12 | g.51916074G>A | CA384902182 | ACVRL1 | c.817G>A (p.Asp273Asn) c.1087G>A (p.Asp363Asn) c.565G>A (p.Asp189Asn) n.362G>A c.1129G>A (p.Asp377Asn) c.92G>A c.298G>A (p.Asp100Asn) | |
| 12 | g.51916074G>C | CA384902184 | ACVRL1 | c.817G>C (p.Asp273His) c.1087G>C (p.Asp363His) c.565G>C (p.Asp189His) n.362G>C c.1129G>C (p.Asp377His) c.92G>C c.298G>C (p.Asp100His) | dbSNP |
| 12 | g.51916074G>T | CA384902186 | ACVRL1 | c.817G>T (p.Asp273Tyr) c.1087G>T (p.Asp363Tyr) c.565G>T (p.Asp189Tyr) n.362G>T c.1129G>T (p.Asp377Tyr) c.92G>T c.298G>T (p.Asp100Tyr) | |
| 12 | g.51916075A>C | CA384902189 | ACVRL1 | c.818A>C (p.Asp273Ala) c.1088A>C (p.Asp363Ala) c.566A>C (p.Asp189Ala) n.363A>C c.1130A>C (p.Asp377Ala) c.93A>C c.299A>C (p.Asp100Ala) | |
| 12 | g.51916075A>G | CA384902195 | ACVRL1 | c.818A>G (p.Asp273Gly) c.1088A>G (p.Asp363Gly) c.566A>G (p.Asp189Gly) n.363A>G c.1130A>G (p.Asp377Gly) c.93A>G c.299A>G (p.Asp100Gly) | |
| 12 | g.51916075A>T | CA384902198 | ACVRL1 | c.818A>T (p.Asp273Val) c.1088A>T (p.Asp363Val) c.566A>T (p.Asp189Val) n.363A>T c.1130A>T (p.Asp377Val) c.93A>T c.299A>T (p.Asp100Val) | |
| 12 | g.51916076C>A | CA384902201 | ACVRL1 | c.819C>A (p.Asp273Glu) c.1089C>A (p.Asp363Glu) c.567C>A (p.Asp189Glu) n.364C>A c.1131C>A (p.Asp377Glu) c.94C>A c.300C>A (p.Asp100Glu) | gnomAD v4 |
| 12 | g.51916076C= | CA2036236779 | ACVRL1 | c.819C= (p.Asp273=) c.1089C= (p.Asp363=) c.567C= (p.Asp189=) n.364C= c.1131C= (p.Asp377=) c.94C= c.300C= (p.Asp100=) | |
| 12 | g.51916076C>G | CA384902202 | ACVRL1 | c.819C>G (p.Asp273Glu) c.1089C>G (p.Asp363Glu) c.567C>G (p.Asp189Glu) n.364C>G c.1131C>G (p.Asp377Glu) c.94C>G c.300C>G (p.Asp100Glu) | |
| 12 | g.51916076C>T | CA479810266 | ACVRL1 | c.819C>T (p.Asp273=) c.1089C>T (p.Asp363=) c.567C>T (p.Asp189=) n.364C>T c.1131C>T (p.Asp377=) c.94C>T c.300C>T (p.Asp100=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916077A= | CA2036236784 | ACVRL1 | c.820A= (p.Ile274=) c.1090A= (p.Ile364=) c.568A= (p.Ile190=) n.365A= c.1132A= (p.Ile378=) c.95A= c.301A= (p.Ile101=) | |
| 12 | g.51916077A>C | CA384902203 | ACVRL1 | c.820A>C (p.Ile274Leu) c.1090A>C (p.Ile364Leu) c.568A>C (p.Ile190Leu) n.365A>C c.1132A>C (p.Ile378Leu) c.95A>C c.301A>C (p.Ile101Leu) | |
| 12 | g.51916077A>G | CA6573064 | ACVRL1 | c.820A>G (p.Ile274Val) c.1090A>G (p.Ile364Val) c.568A>G (p.Ile190Val) n.365A>G c.1132A>G (p.Ile378Val) c.95A>G c.301A>G (p.Ile101Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916077A>T | CA384902204 | ACVRL1 | c.820A>T (p.Ile274Phe) c.1090A>T (p.Ile364Phe) c.568A>T (p.Ile190Phe) n.365A>T c.1132A>T (p.Ile378Phe) c.95A>T c.301A>T (p.Ile101Phe) | |
| 12 | g.51916078T>A | CA384902207 | ACVRL1 | c.821T>A (p.Ile274Asn) c.1091T>A (p.Ile364Asn) c.569T>A (p.Ile190Asn) n.366T>A c.1133T>A (p.Ile378Asn) c.96T>A c.302T>A (p.Ile101Asn) | |
| 12 | g.51916078T>C | CA384902211 | ACVRL1 | c.821T>C (p.Ile274Thr) c.1091T>C (p.Ile364Thr) c.569T>C (p.Ile190Thr) n.366T>C c.1133T>C (p.Ile378Thr) c.96T>C c.302T>C (p.Ile101Thr) | gnomAD v4 |
| 12 | g.51916078T>G | CA384902212 | ACVRL1 | c.821T>G (p.Ile274Ser) c.1091T>G (p.Ile364Ser) c.569T>G (p.Ile190Ser) n.366T>G c.1133T>G (p.Ile378Ser) c.96T>G c.302T>G (p.Ile101Ser) | |
| 12 | g.51916079C>A | CA479810313 | ACVRL1 | c.822C>A (p.Ile274=) c.1092C>A (p.Ile364=) c.570C>A (p.Ile190=) n.367C>A c.1134C>A (p.Ile378=) c.97C>A c.303C>A (p.Ile101=) | gnomAD v4 |
| 12 | g.51916079C= | CA2036236787 | ACVRL1 | c.822C= (p.Ile274=) c.1092C= (p.Ile364=) c.570C= (p.Ile190=) n.367C= c.1134C= (p.Ile378=) c.97C= c.303C= (p.Ile101=) | |
| 12 | g.51916079C>G | CA384902214 | ACVRL1 | c.822C>G (p.Ile274Met) c.1092C>G (p.Ile364Met) c.570C>G (p.Ile190Met) n.367C>G c.1134C>G (p.Ile378Met) c.97C>G c.303C>G (p.Ile101Met) | |
| 12 | g.51916079C>T | CA6573065 | ACVRL1 | c.822C>T (p.Ile274=) c.1092C>T (p.Ile364=) c.570C>T (p.Ile190=) n.367C>T c.1134C>T (p.Ile378=) c.97C>T c.303C>T (p.Ile101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51916080G>A | CA6573066 | ACVRL1 | c.823G>A (p.Gly275Ser) c.1093G>A (p.Gly365Ser) c.571G>A (p.Gly191Ser) n.368G>A c.1135G>A (p.Gly379Ser) c.98G>A c.304G>A (p.Gly102Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916080G>C | CA384902221 | ACVRL1 | c.823G>C (p.Gly275Arg) c.1093G>C (p.Gly365Arg) c.571G>C (p.Gly191Arg) n.368G>C c.1135G>C (p.Gly379Arg) c.98G>C c.304G>C (p.Gly102Arg) | |
| 12 | g.51916080G= | CA2036236795 | ACVRL1 | c.823G= (p.Gly275=) c.1093G= (p.Gly365=) c.571G= (p.Gly191=) n.368G= c.1135G= (p.Gly379=) c.98G= c.304G= (p.Gly102=) | |
| 12 | g.51916080G>T | CA384902228 | ACVRL1 | c.823G>T (p.Gly275Cys) c.1093G>T (p.Gly365Cys) c.571G>T (p.Gly191Cys) n.368G>T c.1135G>T (p.Gly379Cys) c.98G>T c.304G>T (p.Gly102Cys) | |
| 12 | g.51916081G>A | CA236364855 | ACVRL1 | c.824G>A (p.Gly275Asp) c.1094G>A (p.Gly365Asp) c.572G>A (p.Gly191Asp) n.369G>A c.1136G>A (p.Gly379Asp) c.99G>A c.305G>A (p.Gly102Asp) | dbSNP gnomAD v4 |
| 12 | g.51916081G>C | CA384902231 | ACVRL1 | c.824G>C (p.Gly275Ala) c.1094G>C (p.Gly365Ala) c.572G>C (p.Gly191Ala) n.369G>C c.1136G>C (p.Gly379Ala) c.99G>C c.305G>C (p.Gly102Ala) | |
| 12 | g.51916081G= | CA2036236800 | ACVRL1 | c.824G= (p.Gly275=) c.1094G= (p.Gly365=) c.572G= (p.Gly191=) n.369G= c.1136G= (p.Gly379=) c.99G= c.305G= (p.Gly102=) | |
| 12 | g.51916081G>T | CA384902233 | ACVRL1 | c.824G>T (p.Gly275Val) c.1094G>T (p.Gly365Val) c.572G>T (p.Gly191Val) n.369G>T c.1136G>T (p.Gly379Val) c.99G>T c.305G>T (p.Gly102Val) | |
| 12 | g.51916082C>A | CA479810327 | ACVRL1 | c.825C>A (p.Gly275=) c.1095C>A (p.Gly365=) c.573C>A (p.Gly191=) n.370C>A c.1137C>A (p.Gly379=) c.100C>A c.306C>A (p.Gly102=) | dbSNP |
| 12 | g.51916082C= | CA2036236802 | ACVRL1 | c.825C= (p.Gly275=) c.1095C= (p.Gly365=) c.573C= (p.Gly191=) n.370C= c.1137C= (p.Gly379=) c.100C= c.306C= (p.Gly102=) | |
| 12 | g.51916082C>G | CA479810328 | ACVRL1 | c.825C>G (p.Gly275=) c.1095C>G (p.Gly365=) c.573C>G (p.Gly191=) n.370C>G c.1137C>G (p.Gly379=) c.100C>G c.306C>G (p.Gly102=) | |
| 12 | g.51916082C>T | CA6573067 | ACVRL1 | c.825C>T (p.Gly275=) c.1095C>T (p.Gly365=) c.573C>T (p.Gly191=) n.370C>T c.1137C>T (p.Gly379=) c.100C>T c.306C>T (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.51916086_51916088del | CA2795983149 | ACVRL1 | c.829_831del (p.Asn277del) c.1099_1101del (p.Asn367del) c.577_579del (p.Asn193del) n.374_376del c.1141_1143del (p.Asn381del) c.104_106del c.310_312del (p.Asn104del) | |
| 12 | g.51916083A>C | CA384902240 | ACVRL1 | c.826A>C (p.Asn276His) c.1096A>C (p.Asn366His) c.574A>C (p.Asn192His) n.371A>C c.1138A>C (p.Asn380His) c.101A>C c.307A>C (p.Asn103His) | |
| 12 | g.51916083A>G | CA384902242 | ACVRL1 | c.826A>G (p.Asn276Asp) c.1096A>G (p.Asn366Asp) c.574A>G (p.Asn192Asp) n.371A>G c.1138A>G (p.Asn380Asp) c.101A>G c.307A>G (p.Asn103Asp) | |
| 12 | g.51916083A>T | CA384902244 | ACVRL1 | c.826A>T (p.Asn276Tyr) c.1096A>T (p.Asn366Tyr) c.574A>T (p.Asn192Tyr) n.371A>T c.1138A>T (p.Asn380Tyr) c.101A>T c.307A>T (p.Asn103Tyr) | |
| 12 | g.51916084A>C | CA384902246 | ACVRL1 | c.827A>C (p.Asn276Thr) c.1097A>C (p.Asn366Thr) c.575A>C (p.Asn192Thr) n.372A>C c.1139A>C (p.Asn380Thr) c.102A>C c.308A>C (p.Asn103Thr) | |
| 12 | g.51916084A>G | CA384902247 | ACVRL1 | c.827A>G (p.Asn276Ser) c.1097A>G (p.Asn366Ser) c.575A>G (p.Asn192Ser) n.372A>G c.1139A>G (p.Asn380Ser) c.102A>G c.308A>G (p.Asn103Ser) | |
| 12 | g.51916084A>T | CA384902248 | ACVRL1 | c.827A>T (p.Asn276Ile) c.1097A>T (p.Asn366Ile) c.575A>T (p.Asn192Ile) n.372A>T c.1139A>T (p.Asn380Ile) c.102A>T c.308A>T (p.Asn103Ile) | |
| 12 | g.51916085C>A | CA384902249 | ACVRL1 | c.828C>A (p.Asn276Lys) c.1098C>A (p.Asn366Lys) c.576C>A (p.Asn192Lys) n.373C>A c.1140C>A (p.Asn380Lys) c.103C>A c.309C>A (p.Asn103Lys) | gnomAD v4 |
| 12 | g.51916085C= | CA2036236806 | ACVRL1 | c.828C= (p.Asn276=) c.1098C= (p.Asn366=) c.576C= (p.Asn192=) n.373C= c.1140C= (p.Asn380=) c.103C= c.309C= (p.Asn103=) | |
| 12 | g.51916085C>G | CA384902252 | ACVRL1 | c.828C>G (p.Asn276Lys) c.1098C>G (p.Asn366Lys) c.576C>G (p.Asn192Lys) n.373C>G c.1140C>G (p.Asn380Lys) c.103C>G c.309C>G (p.Asn103Lys) | |
| 12 | g.51916085C>T | CA6573068 | ACVRL1 | c.828C>T (p.Asn276=) c.1098C>T (p.Asn366=) c.576C>T (p.Asn192=) n.373C>T c.1140C>T (p.Asn380=) c.103C>T c.309C>T (p.Asn103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916086A>C | CA384902254 | ACVRL1 | c.829A>C (p.Asn277His) c.1099A>C (p.Asn367His) c.577A>C (p.Asn193His) n.374A>C c.1141A>C (p.Asn381His) c.104A>C c.310A>C (p.Asn104His) | |
| 12 | g.51916086A>G | CA384902256 | ACVRL1 | c.829A>G (p.Asn277Asp) c.1099A>G (p.Asn367Asp) c.577A>G (p.Asn193Asp) n.374A>G c.1141A>G (p.Asn381Asp) c.104A>G c.310A>G (p.Asn104Asp) | |
| 12 | g.51916086A>T | CA384902263 | ACVRL1 | c.829A>T (p.Asn277Tyr) c.1099A>T (p.Asn367Tyr) c.577A>T (p.Asn193Tyr) n.374A>T c.1141A>T (p.Asn381Tyr) c.104A>T c.310A>T (p.Asn104Tyr) | |
| 12 | g.51916087A>C | CA384902265 | ACVRL1 | c.830A>C (p.Asn277Thr) c.1100A>C (p.Asn367Thr) c.578A>C (p.Asn193Thr) n.375A>C c.1142A>C (p.Asn381Thr) c.105A>C c.311A>C (p.Asn104Thr) | |
| 12 | g.51916087A>G | CA384902268 | ACVRL1 | c.830A>G (p.Asn277Ser) c.1100A>G (p.Asn367Ser) c.578A>G (p.Asn193Ser) n.375A>G c.1142A>G (p.Asn381Ser) c.105A>G c.311A>G (p.Asn104Ser) | |
| 12 | g.51916087A>T | CA384902274 | ACVRL1 | c.830A>T (p.Asn277Ile) c.1100A>T (p.Asn367Ile) c.578A>T (p.Asn193Ile) n.375A>T c.1142A>T (p.Asn381Ile) c.105A>T c.311A>T (p.Asn104Ile) | |
| 12 | g.51916088C>A | CA384902276 | ACVRL1 | c.831C>A (p.Asn277Lys) c.1101C>A (p.Asn367Lys) c.579C>A (p.Asn193Lys) n.376C>A c.1143C>A (p.Asn381Lys) c.106C>A c.312C>A (p.Asn104Lys) | |
| 12 | g.51916088C>G | CA384902278 | ACVRL1 | c.831C>G (p.Asn277Lys) c.1101C>G (p.Asn367Lys) c.579C>G (p.Asn193Lys) n.376C>G c.1143C>G (p.Asn381Lys) c.106C>G c.312C>G (p.Asn104Lys) | COSMIC COSMIC |
| 12 | g.51916088C>T | CA479810373 | ACVRL1 | c.831C>T (p.Asn277=) c.1101C>T (p.Asn367=) c.579C>T (p.Asn193=) n.376C>T c.1143C>T (p.Asn381=) c.106C>T c.312C>T (p.Asn104=) | |
| 12 | g.51916089C>A | CA384902279 | ACVRL1 | c.832C>A (p.Pro278Thr) c.1102C>A (p.Pro368Thr) c.580C>A (p.Pro194Thr) n.377C>A c.1144C>A (p.Pro382Thr) c.107C>A c.313C>A (p.Pro105Thr) | |
| 12 | g.51916089C= | CA2036236812 | ACVRL1 | c.832C= (p.Pro278=) c.1102C= (p.Pro368=) c.580C= (p.Pro194=) n.377C= c.1144C= (p.Pro382=) c.107C= c.313C= (p.Pro105=) | |
| 12 | g.51916089C>G | CA384902280 | ACVRL1 | c.832C>G (p.Pro278Ala) c.1102C>G (p.Pro368Ala) c.580C>G (p.Pro194Ala) n.377C>G c.1144C>G (p.Pro382Ala) c.107C>G c.313C>G (p.Pro105Ala) | |
| 12 | g.51916089C>T | CA384902285 | ACVRL1 | c.832C>T (p.Pro278Ser) c.1102C>T (p.Pro368Ser) c.580C>T (p.Pro194Ser) n.377C>T c.1144C>T (p.Pro382Ser) c.107C>T c.313C>T (p.Pro105Ser) | dbSNP gnomAD v4 |
| 12 | g.51916090C>A | CA384902288 | ACVRL1 | c.833C>A (p.Pro278Gln) c.1103C>A (p.Pro368Gln) c.581C>A (p.Pro194Gln) n.378C>A c.1145C>A (p.Pro382Gln) c.108C>A c.314C>A (p.Pro105Gln) | dbSNP gnomAD v2 |
| 12 | g.51916090C= | CA2036236817 | ACVRL1 | c.833C= (p.Pro278=) c.1103C= (p.Pro368=) c.581C= (p.Pro194=) n.378C= c.1145C= (p.Pro382=) c.108C= c.314C= (p.Pro105=) | |
| 12 | g.51916090C>G | CA384902290 | ACVRL1 | c.833C>G (p.Pro278Arg) c.1103C>G (p.Pro368Arg) c.581C>G (p.Pro194Arg) n.378C>G c.1145C>G (p.Pro382Arg) c.108C>G c.314C>G (p.Pro105Arg) | |
| 12 | g.51916090C>T | CA6573069 | ACVRL1 | c.833C>T (p.Pro278Leu) c.1103C>T (p.Pro368Leu) c.581C>T (p.Pro194Leu) n.378C>T c.1145C>T (p.Pro382Leu) c.108C>T c.314C>T (p.Pro105Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916091G>A | CA6573070 | ACVRL1 | c.834G>A (p.Pro278=) c.1104G>A (p.Pro368=) c.582G>A (p.Pro194=) n.379G>A c.1146G>A (p.Pro382=) c.109G>A c.315G>A (p.Pro105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916091G>C | CA479810394 | ACVRL1 | c.834G>C (p.Pro278=) c.1104G>C (p.Pro368=) c.582G>C (p.Pro194=) n.379G>C c.1146G>C (p.Pro382=) c.109G>C c.315G>C (p.Pro105=) | |
| 12 | g.51916091G= | CA2036236824 | ACVRL1 | c.834G= (p.Pro278=) c.1104G= (p.Pro368=) c.582G= (p.Pro194=) n.379G= c.1146G= (p.Pro382=) c.109G= c.315G= (p.Pro105=) | |
| 12 | g.51916091G>T | CA479810395 | ACVRL1 | c.834G>T (p.Pro278=) c.1104G>T (p.Pro368=) c.582G>T (p.Pro194=) n.379G>T c.1146G>T (p.Pro382=) c.109G>T c.315G>T (p.Pro105=) | |
| 12 | g.51916094_51916095del | CA2695216672 | ACVRL1 | c.837_838del (p.Arg279SerfsTer22) c.1107_1108del (p.Arg369SerfsTer22) c.585_586del (p.Arg195SerfsTer22) n.382_383del c.1149_1150del (p.Arg383SerfsTer22) c.112_113del c.318_319del (p.Arg106SerfsTer22) | |
| 12 | g.51916092A>C | CA479810399 | ACVRL1 | c.835A>C (p.Arg279=) c.1105A>C (p.Arg369=) c.583A>C (p.Arg195=) n.380A>C c.1147A>C (p.Arg383=) c.110A>C c.316A>C (p.Arg106=) | |
| 12 | g.51916092A>G | CA384902294 | ACVRL1 | c.835A>G (p.Arg279Gly) c.1105A>G (p.Arg369Gly) c.583A>G (p.Arg195Gly) n.380A>G c.1147A>G (p.Arg383Gly) c.110A>G c.316A>G (p.Arg106Gly) | COSMIC COSMIC |
| 12 | g.51916092A>T | CA384902297 | ACVRL1 | c.835A>T (p.Arg279Ter) c.1105A>T (p.Arg369Ter) c.583A>T (p.Arg195Ter) n.380A>T c.1147A>T (p.Arg383Ter) c.110A>T c.316A>T (p.Arg106Ter) | |
| 12 | g.51916093G>A | CA384902311 | ACVRL1 | c.836G>A (p.Arg279Lys) c.1106G>A (p.Arg369Lys) c.584G>A (p.Arg195Lys) n.381G>A c.1148G>A (p.Arg383Lys) c.111G>A c.317G>A (p.Arg106Lys) | |
| 12 | g.51916093G>C | CA384902313 | ACVRL1 | c.836G>C (p.Arg279Thr) c.1106G>C (p.Arg369Thr) c.584G>C (p.Arg195Thr) n.381G>C c.1148G>C (p.Arg383Thr) c.111G>C c.317G>C (p.Arg106Thr) | |
| 12 | g.51916093G>T | CA384902315 | ACVRL1 | c.836G>T (p.Arg279Ile) c.1106G>T (p.Arg369Ile) c.584G>T (p.Arg195Ile) n.381G>T c.1148G>T (p.Arg383Ile) c.111G>T c.317G>T (p.Arg106Ile) | |
| 12 | g.51916094A>C | CA384902317 | ACVRL1 | c.837A>C (p.Arg279Ser) c.1107A>C (p.Arg369Ser) c.585A>C (p.Arg195Ser) n.382A>C c.1149A>C (p.Arg383Ser) c.112A>C c.318A>C (p.Arg106Ser) | |
| 12 | g.51916094A>G | CA479810414 | ACVRL1 | c.837A>G (p.Arg279=) c.1107A>G (p.Arg369=) c.585A>G (p.Arg195=) n.382A>G c.1149A>G (p.Arg383=) c.112A>G c.318A>G (p.Arg106=) | |
| 12 | g.51916094A>T | CA384902318 | ACVRL1 | c.837A>T (p.Arg279Ser) c.1107A>T (p.Arg369Ser) c.585A>T (p.Arg195Ser) n.382A>T c.1149A>T (p.Arg383Ser) c.112A>T c.318A>T (p.Arg106Ser) | |
| 12 | g.51916095G>A | CA384902319 | ACVRL1 | c.838G>A (p.Val280Met) c.1108G>A (p.Val370Met) c.586G>A (p.Val196Met) n.383G>A c.1150G>A (p.Val384Met) c.113G>A c.319G>A (p.Val107Met) | COSMIC COSMIC |
| 12 | g.51916095G>C | CA384902320 | ACVRL1 | c.838G>C (p.Val280Leu) c.1108G>C (p.Val370Leu) c.586G>C (p.Val196Leu) n.383G>C c.1150G>C (p.Val384Leu) c.113G>C c.319G>C (p.Val107Leu) | |
| 12 | g.51916095G>T | CA384902321 | ACVRL1 | c.838G>T (p.Val280Leu) c.1108G>T (p.Val370Leu) c.586G>T (p.Val196Leu) n.383G>T c.1150G>T (p.Val384Leu) c.113G>T c.319G>T (p.Val107Leu) | |
| 12 | g.51916096T>A | CA384902322 | ACVRL1 | c.839T>A (p.Val280Glu) c.1109T>A (p.Val370Glu) c.587T>A (p.Val196Glu) n.384T>A c.1151T>A (p.Val384Glu) c.114T>A c.320T>A (p.Val107Glu) | dbSNP |
| 12 | g.51916096T>C | CA384902323 | ACVRL1 | c.839T>C (p.Val280Ala) c.1109T>C (p.Val370Ala) c.587T>C (p.Val196Ala) n.384T>C c.1151T>C (p.Val384Ala) c.114T>C c.320T>C (p.Val107Ala) | |
| 12 | g.51916096T>G | CA384902325 | ACVRL1 | c.839T>G (p.Val280Gly) c.1109T>G (p.Val370Gly) c.587T>G (p.Val196Gly) n.384T>G c.1151T>G (p.Val384Gly) c.114T>G c.320T>G (p.Val107Gly) | dbSNP |
| 12 | g.51916097G>A | CA479810430 | ACVRL1 | c.840G>A (p.Val280=) c.1110G>A (p.Val370=) c.588G>A (p.Val196=) n.385G>A c.1152G>A (p.Val384=) c.115G>A c.321G>A (p.Val107=) | ClinVar |
| 12 | g.51916097G>C | CA479810432 | ACVRL1 | c.840G>C (p.Val280=) c.1110G>C (p.Val370=) c.588G>C (p.Val196=) n.385G>C c.1152G>C (p.Val384=) c.115G>C c.321G>C (p.Val107=) | |
| 12 | g.51916097G>T | CA479810435 | ACVRL1 | c.840G>T (p.Val280=) c.1110G>T (p.Val370=) c.588G>T (p.Val196=) n.385G>T c.1152G>T (p.Val384=) c.115G>T c.321G>T (p.Val107=) | |
| 12 | g.51916099dup | CA2618859563 | ACVRL1 | c.842dup (p.Thr282HisfsTer20) c.1112dup (p.Thr372HisfsTer20) c.590dup (p.Thr198HisfsTer20) n.387dup c.1154dup (p.Thr386HisfsTer20) c.117dup c.323dup (p.Thr109HisfsTer20) | gnomAD v4 |
| 12 | g.51916098G>A | CA384902330 | ACVRL1 | c.841G>A (p.Gly281Ser) c.1111G>A (p.Gly371Ser) c.589G>A (p.Gly197Ser) n.386G>A c.1153G>A (p.Gly385Ser) c.116G>A c.322G>A (p.Gly108Ser) | ClinVar |
| 12 | g.51916098G>C | CA384902336 | ACVRL1 | c.841G>C (p.Gly281Arg) c.1111G>C (p.Gly371Arg) c.589G>C (p.Gly197Arg) n.386G>C c.1153G>C (p.Gly385Arg) c.116G>C c.322G>C (p.Gly108Arg) | |
| 12 | g.51916098G>T | CA384902334 | ACVRL1 | c.841G>T (p.Gly281Cys) c.1111G>T (p.Gly371Cys) c.589G>T (p.Gly197Cys) n.386G>T c.1153G>T (p.Gly385Cys) c.116G>T c.322G>T (p.Gly108Cys) | ClinVar dbSNP |
| 12 | g.51916099G>A | CA384902343 | ACVRL1 | c.842G>A (p.Gly281Asp) c.1112G>A (p.Gly371Asp) c.590G>A (p.Gly197Asp) n.387G>A c.1154G>A (p.Gly385Asp) c.117G>A c.323G>A (p.Gly108Asp) | dbSNP |
| 12 | g.51916099G>C | CA384902347 | ACVRL1 | c.842G>C (p.Gly281Ala) c.1112G>C (p.Gly371Ala) c.590G>C (p.Gly197Ala) n.387G>C c.1154G>C (p.Gly385Ala) c.117G>C c.323G>C (p.Gly108Ala) | ClinVar dbSNP |
| 12 | g.51916099G= | CA2036236835 | ACVRL1 | c.842G= (p.Gly281=) c.1112G= (p.Gly371=) c.590G= (p.Gly197=) n.387G= c.1154G= (p.Gly385=) c.117G= c.323G= (p.Gly108=) | |
| 12 | g.51916099G>T | CA384902346 | ACVRL1 | c.842G>T (p.Gly281Val) c.1112G>T (p.Gly371Val) c.590G>T (p.Gly197Val) n.387G>T c.1154G>T (p.Gly385Val) c.117G>T c.323G>T (p.Gly108Val) | |
| 12 | g.51916100C>A | CA479810455 | ACVRL1 | c.843C>A (p.Gly281=) c.1113C>A (p.Gly371=) c.591C>A (p.Gly197=) n.388C>A c.1155C>A (p.Gly385=) c.118C>A c.324C>A (p.Gly108=) | |
| 12 | g.51916100C= | CA2036236837 | ACVRL1 | c.843C= (p.Gly281=) c.1113C= (p.Gly371=) c.591C= (p.Gly197=) n.388C= c.1155C= (p.Gly385=) c.118C= c.324C= (p.Gly108=) | |
| 12 | g.51916100C>G | CA479810460 | ACVRL1 | c.843C>G (p.Gly281=) c.1113C>G (p.Gly371=) c.591C>G (p.Gly197=) n.388C>G c.1155C>G (p.Gly385=) c.118C>G c.324C>G (p.Gly108=) | |
| 12 | g.51916100C>T | CA479810463 | ACVRL1 | c.843C>T (p.Gly281=) c.1113C>T (p.Gly371=) c.591C>T (p.Gly197=) n.388C>T c.1155C>T (p.Gly385=) c.118C>T c.324C>T (p.Gly108=) | dbSNP |
| 12 | g.51916100_51916101insG | CA119412 | ACVRL1 | c.843_844insG (p.Thr282AspfsTer20) c.1113_1114insG (p.Thr372AspfsTer20) c.591_592insG (p.Thr198AspfsTer20) n.388_389insG c.1155_1156insG (p.Thr386AspfsTer20) c.118_119insG c.324_325insG (p.Thr109AspfsTer20) | ClinVar dbSNP |
| 12 | g.51916101A>C | CA384902350 | ACVRL1 | c.844A>C (p.Thr282Pro) c.1114A>C (p.Thr372Pro) c.592A>C (p.Thr198Pro) n.389A>C c.1156A>C (p.Thr386Pro) c.119A>C c.325A>C (p.Thr109Pro) | COSMIC COSMIC |
| 12 | g.51916101A>G | CA384902355 | ACVRL1 | c.844A>G (p.Thr282Ala) c.1114A>G (p.Thr372Ala) c.592A>G (p.Thr198Ala) n.389A>G c.1156A>G (p.Thr386Ala) c.119A>G c.325A>G (p.Thr109Ala) | |
| 12 | g.51916101A>T | CA384902358 | ACVRL1 | c.844A>T (p.Thr282Ser) c.1114A>T (p.Thr372Ser) c.592A>T (p.Thr198Ser) n.389A>T c.1156A>T (p.Thr386Ser) c.119A>T c.325A>T (p.Thr109Ser) | |
| 12 | g.51916102C>A | CA384902362 | ACVRL1 | c.845C>A (p.Thr282Asn) c.1115C>A (p.Thr372Asn) c.593C>A (p.Thr198Asn) n.390C>A c.1157C>A (p.Thr386Asn) c.120C>A c.326C>A (p.Thr109Asn) | |
| 12 | g.51916102C= | CA2036236851 | ACVRL1 | c.845C= (p.Thr282=) c.1115C= (p.Thr372=) c.593C= (p.Thr198=) n.390C= c.1157C= (p.Thr386=) c.120C= c.326C= (p.Thr109=) | |
| 12 | g.51916102C>G | CA384902365 | ACVRL1 | c.845C>G (p.Thr282Ser) c.1115C>G (p.Thr372Ser) c.593C>G (p.Thr198Ser) n.390C>G c.1157C>G (p.Thr386Ser) c.120C>G c.326C>G (p.Thr109Ser) | |
| 12 | g.51916102C>T | CA384902371 | ACVRL1 | c.845C>T (p.Thr282Ile) c.1115C>T (p.Thr372Ile) c.593C>T (p.Thr198Ile) n.390C>T c.1157C>T (p.Thr386Ile) c.120C>T c.326C>T (p.Thr109Ile) | ClinVar dbSNP |
| 12 | g.51916103C>A | CA479810479 | ACVRL1 | c.846C>A (p.Thr282=) c.1116C>A (p.Thr372=) c.594C>A (p.Thr198=) n.391C>A c.1158C>A (p.Thr386=) c.121C>A c.327C>A (p.Thr109=) | |
| 12 | g.51916103C= | CA2036236855 | ACVRL1 | c.846C= (p.Thr282=) c.1116C= (p.Thr372=) c.594C= (p.Thr198=) n.391C= c.1158C= (p.Thr386=) c.121C= c.327C= (p.Thr109=) | |
| 12 | g.51916103C>G | CA479810482 | ACVRL1 | c.846C>G (p.Thr282=) c.1116C>G (p.Thr372=) c.594C>G (p.Thr198=) n.391C>G c.1158C>G (p.Thr386=) c.121C>G c.327C>G (p.Thr109=) | |
| 12 | g.51916103C>T | CA479810485 | ACVRL1 | c.846C>T (p.Thr282=) c.1116C>T (p.Thr372=) c.594C>T (p.Thr198=) n.391C>T c.1158C>T (p.Thr386=) c.121C>T c.327C>T (p.Thr109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916104A>C | CA384902374 | ACVRL1 | c.847A>C (p.Lys283Gln) c.1117A>C (p.Lys373Gln) c.595A>C (p.Lys199Gln) n.392A>C c.1159A>C (p.Lys387Gln) c.122A>C c.328A>C (p.Lys110Gln) | |
| 12 | g.51916104A>G | CA384902376 | ACVRL1 | c.847A>G (p.Lys283Glu) c.1117A>G (p.Lys373Glu) c.595A>G (p.Lys199Glu) n.392A>G c.1159A>G (p.Lys387Glu) c.122A>G c.328A>G (p.Lys110Glu) | |
| 12 | g.51916104A>T | CA384902382 | ACVRL1 | c.847A>T (p.Lys283Ter) c.1117A>T (p.Lys373Ter) c.595A>T (p.Lys199Ter) n.392A>T c.1159A>T (p.Lys387Ter) c.122A>T c.328A>T (p.Lys110Ter) | |
| 12 | g.51916105del | CA2695216673 | ACVRL1 | c.848del (p.Lys283SerfsTer?) c.1118del (p.Lys373SerfsTer?) c.596del (p.Lys199SerfsTer?) n.393del c.1160del (p.Lys387SerfsTer?) c.123del c.329del (p.Lys110SerfsTer?) | |
| 12 | g.51916105A= | CA2036236862 | ACVRL1 | c.848A= (p.Lys283=) c.1118A= (p.Lys373=) c.596A= (p.Lys199=) n.393A= c.1160A= (p.Lys387=) c.123A= c.329A= (p.Lys110=) | |
| 12 | g.51916105A>C | CA384902384 | ACVRL1 | c.848A>C (p.Lys283Thr) c.1118A>C (p.Lys373Thr) c.596A>C (p.Lys199Thr) n.393A>C c.1160A>C (p.Lys387Thr) c.123A>C c.329A>C (p.Lys110Thr) | |
| 12 | g.51916105A>G | CA384902385 | ACVRL1 | c.848A>G (p.Lys283Arg) c.1118A>G (p.Lys373Arg) c.596A>G (p.Lys199Arg) n.393A>G c.1160A>G (p.Lys387Arg) c.123A>G c.329A>G (p.Lys110Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916105A>T | CA384902388 | ACVRL1 | c.848A>T (p.Lys283Met) c.1118A>T (p.Lys373Met) c.596A>T (p.Lys199Met) n.393A>T c.1160A>T (p.Lys387Met) c.123A>T c.329A>T (p.Lys110Met) | |
| 12 | g.51916107_51916124del | CA2695216674 | ACVRL1 | c.850_867del (p.Arg284_Glu289del) c.1120_1137del (p.Arg374_Glu379del) c.598_615del (p.Arg200_Glu205del) n.395_412del c.1162_1179del (p.Arg388_Glu393del) c.125_142del c.331_348del (p.Arg111_Glu116del) | |
| 12 | g.51916106G>A | CA479810504 | ACVRL1 | c.849G>A (p.Lys283=) c.1119G>A (p.Lys373=) c.597G>A (p.Lys199=) n.394G>A c.1161G>A (p.Lys387=) c.124G>A c.330G>A (p.Lys110=) | ClinVar |
| 12 | g.51916106G>C | CA384902390 | ACVRL1 | c.849G>C (p.Lys283Asn) c.1119G>C (p.Lys373Asn) c.597G>C (p.Lys199Asn) n.394G>C c.1161G>C (p.Lys387Asn) c.124G>C c.330G>C (p.Lys110Asn) | |
| 12 | g.51916106G>T | CA384902393 | ACVRL1 | c.849G>T (p.Lys283Asn) c.1119G>T (p.Lys373Asn) c.597G>T (p.Lys199Asn) n.394G>T c.1161G>T (p.Lys387Asn) c.124G>T c.330G>T (p.Lys110Asn) | |
| 12 | g.51916107C>A | CA479810514 | ACVRL1 | c.850C>A (p.Arg284=) c.1120C>A (p.Arg374=) c.598C>A (p.Arg200=) n.395C>A c.1162C>A (p.Arg388=) c.125C>A c.331C>A (p.Arg111=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916107C= | CA913187495 | ACVRL1 | c.850C= (p.Arg284=) c.1120C= (p.Arg374=) c.598C= (p.Arg200=) n.395C= c.1162C= (p.Arg388=) c.125C= c.331C= (p.Arg111=) | |
| 12 | g.51916107C>G | CA384902394 | ACVRL1 | c.850C>G (p.Arg284Gly) c.1120C>G (p.Arg374Gly) c.598C>G (p.Arg200Gly) n.395C>G c.1162C>G (p.Arg388Gly) c.125C>G c.331C>G (p.Arg111Gly) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916107C>T | CA119397 | ACVRL1 | c.850C>T (p.Arg284Trp) c.1120C>T (p.Arg374Trp) c.598C>T (p.Arg200Trp) n.395C>T c.1162C>T (p.Arg388Trp) c.125C>T c.331C>T (p.Arg111Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51916107_51916108delinsCG | CA2036236873 | ACVRL1 | c.850_851delinsCG (p.Arg284=) c.1120_1121delinsCG (p.Arg374=) c.598_599delinsCG (p.Arg200=) n.395_396delinsCG c.1162_1163delinsCG (p.Arg388=) c.125_126delinsCG c.331_332delinsCG (p.Arg111=) | |
| 12 | g.51916108G>A | CA16614168 | ACVRL1 | c.851G>A (p.Arg284Gln) c.1121G>A (p.Arg374Gln) c.599G>A (p.Arg200Gln) n.396G>A c.1163G>A (p.Arg388Gln) c.126G>A c.332G>A (p.Arg111Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916108G>C | CA384902407 | ACVRL1 | c.851G>C (p.Arg284Pro) c.1121G>C (p.Arg374Pro) c.599G>C (p.Arg200Pro) n.396G>C c.1163G>C (p.Arg388Pro) c.126G>C c.332G>C (p.Arg111Pro) | ClinVar dbSNP |
| 12 | g.51916108G= | CA2036236881 | ACVRL1 | c.851G= (p.Arg284=) c.1121G= (p.Arg374=) c.599G= (p.Arg200=) n.396G= c.1163G= (p.Arg388=) c.126G= c.332G= (p.Arg111=) | |
| 12 | g.51916108G>T | CA384902411 | ACVRL1 | c.851G>T (p.Arg284Leu) c.1121G>T (p.Arg374Leu) c.599G>T (p.Arg200Leu) n.396G>T c.1163G>T (p.Arg388Leu) c.126G>T c.332G>T (p.Arg111Leu) | |
| 12 | g.51916109del | CA320332 | ACVRL1 | c.852del (p.Tyr285ThrfsTer?) c.1122del (p.Tyr375ThrfsTer?) c.600del (p.Tyr201ThrfsTer?) n.397del c.1164del (p.Tyr389ThrfsTer?) c.127del c.333del (p.Tyr112ThrfsTer?) | ClinVar dbSNP |
| 12 | g.51916108_51916111dup | CA1139770871 | ACVRL1 | c.851_854dup (p.Tyr285Ter) c.1121_1124dup (p.Tyr375Ter) c.599_602dup (p.Tyr201Ter) n.396_399dup c.1163_1166dup (p.Tyr389Ter) c.126_129dup c.332_335dup (p.Tyr112Ter) | |
| 12 | g.51916109G>A | CA479810535 | ACVRL1 | c.852G>A (p.Arg284=) c.1122G>A (p.Arg374=) c.600G>A (p.Arg200=) n.397G>A c.1164G>A (p.Arg388=) c.127G>A c.333G>A (p.Arg111=) | dbSNP |
| 12 | g.51916109G>C | CA479810538 | ACVRL1 | c.852G>C (p.Arg284=) c.1122G>C (p.Arg374=) c.600G>C (p.Arg200=) n.397G>C c.1164G>C (p.Arg388=) c.127G>C c.333G>C (p.Arg111=) | |
| 12 | g.51916109G= | CA2036236889 | ACVRL1 | c.852G= (p.Arg284=) c.1122G= (p.Arg374=) c.600G= (p.Arg200=) n.397G= c.1164G= (p.Arg388=) c.127G= c.333G= (p.Arg111=) | |
| 12 | g.51916109G>T | CA6573071 | ACVRL1 | c.852G>T (p.Arg284=) c.1122G>T (p.Arg374=) c.600G>T (p.Arg200=) n.397G>T c.1164G>T (p.Arg388=) c.127G>T c.333G>T (p.Arg111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916109_51916112dup | CA2695216677 | ACVRL1 | c.852_855dup (p.Met286ValfsTer17) c.1122_1125dup (p.Met376ValfsTer17) c.600_603dup (p.Met202ValfsTer17) n.397_400dup c.1164_1167dup (p.Met390ValfsTer17) c.127_130dup c.333_336dup (p.Met113ValfsTer17) | |
| 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.51916110T>A | CA384902420 | ACVRL1 | c.853T>A (p.Tyr285Asn) c.1123T>A (p.Tyr375Asn) c.601T>A (p.Tyr201Asn) n.398T>A c.1165T>A (p.Tyr389Asn) c.128T>A c.334T>A (p.Tyr112Asn) | ClinVar |
| 12 | g.51916110T>C | CA384902423 | ACVRL1 | c.853T>C (p.Tyr285His) c.1123T>C (p.Tyr375His) c.601T>C (p.Tyr201His) n.398T>C c.1165T>C (p.Tyr389His) c.128T>C c.334T>C (p.Tyr112His) | ClinVar |
| 12 | g.51916110T>G | CA384902426 | ACVRL1 | c.853T>G (p.Tyr285Asp) c.1123T>G (p.Tyr375Asp) c.601T>G (p.Tyr201Asp) n.398T>G c.1165T>G (p.Tyr389Asp) c.128T>G c.334T>G (p.Tyr112Asp) | dbSNP |
| 12 | g.51916111A= | CA2036236895 | ACVRL1 | c.854A= (p.Tyr285=) c.1124A= (p.Tyr375=) c.602A= (p.Tyr201=) n.399A= c.1166A= (p.Tyr389=) c.129A= c.335A= (p.Tyr112=) | |
| 12 | g.51916111A>C | CA384902435 | ACVRL1 | c.854A>C (p.Tyr285Ser) c.1124A>C (p.Tyr375Ser) c.602A>C (p.Tyr201Ser) n.399A>C c.1166A>C (p.Tyr389Ser) c.129A>C c.335A>C (p.Tyr112Ser) | |
| 12 | g.51916111A>G | CA384902433 | ACVRL1 | c.854A>G (p.Tyr285Cys) c.1124A>G (p.Tyr375Cys) c.602A>G (p.Tyr201Cys) n.399A>G c.1166A>G (p.Tyr389Cys) c.129A>G c.335A>G (p.Tyr112Cys) | ClinVar dbSNP |
| 12 | g.51916111A>T | CA384902432 | ACVRL1 | c.854A>T (p.Tyr285Phe) c.1124A>T (p.Tyr375Phe) c.602A>T (p.Tyr201Phe) n.399A>T c.1166A>T (p.Tyr389Phe) c.129A>T c.335A>T (p.Tyr112Phe) | ClinVar dbSNP |
| 12 | g.51916112C>A | CA384902437 | ACVRL1 | c.855C>A (p.Tyr285Ter) c.1125C>A (p.Tyr375Ter) c.603C>A (p.Tyr201Ter) n.400C>A c.1167C>A (p.Tyr389Ter) c.130C>A c.336C>A (p.Tyr112Ter) | ClinVar |
| 12 | g.51916112C>G | CA384902439 | ACVRL1 | c.855C>G (p.Tyr285Ter) c.1125C>G (p.Tyr375Ter) c.603C>G (p.Tyr201Ter) n.400C>G c.1167C>G (p.Tyr389Ter) c.130C>G c.336C>G (p.Tyr112Ter) | |
| 12 | g.51916112C>T | CA479810560 | ACVRL1 | c.855C>T (p.Tyr285=) c.1125C>T (p.Tyr375=) c.603C>T (p.Tyr201=) n.400C>T c.1167C>T (p.Tyr389=) c.130C>T c.336C>T (p.Tyr112=) | |
| 12 | g.51916113A= | CA2036236899 | ACVRL1 | c.856A= (p.Met286=) c.1126A= (p.Met376=) c.604A= (p.Met202=) n.401A= c.1168A= (p.Met390=) c.131A= c.337A= (p.Met113=) | |
| 12 | g.51916113A>C | CA384902441 | ACVRL1 | c.856A>C (p.Met286Leu) c.1126A>C (p.Met376Leu) c.604A>C (p.Met202Leu) n.401A>C c.1168A>C (p.Met390Leu) c.131A>C c.337A>C (p.Met113Leu) | |
| 12 | g.51916113A>G | CA384902445 | ACVRL1 | c.856A>G (p.Met286Val) c.1126A>G (p.Met376Val) c.604A>G (p.Met202Val) n.401A>G c.1168A>G (p.Met390Val) c.131A>G c.337A>G (p.Met113Val) | ClinVar dbSNP |
| 12 | g.51916113A>T | CA384902448 | ACVRL1 | c.856A>T (p.Met286Leu) c.1126A>T (p.Met376Leu) c.604A>T (p.Met202Leu) n.401A>T c.1168A>T (p.Met390Leu) c.131A>T c.337A>T (p.Met113Leu) | |
| 12 | g.51916114T>A | CA384902457 | ACVRL1 | c.857T>A (p.Met286Lys) c.1127T>A (p.Met376Lys) c.605T>A (p.Met202Lys) n.402T>A c.1169T>A (p.Met390Lys) c.132T>A c.338T>A (p.Met113Lys) | |
| 12 | g.51916114T>C | CA384902454 | ACVRL1 | c.857T>C (p.Met286Thr) c.1127T>C (p.Met376Thr) c.605T>C (p.Met202Thr) n.402T>C c.1169T>C (p.Met390Thr) c.132T>C c.338T>C (p.Met113Thr) | |
| 12 | g.51916114T>G | CA254367 | ACVRL1 | c.857T>G (p.Met286Arg) c.1127T>G (p.Met376Arg) c.605T>G (p.Met202Arg) n.402T>G c.1169T>G (p.Met390Arg) c.132T>G c.338T>G (p.Met113Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916114T= | CA2036236907 | ACVRL1 | c.857T= (p.Met286=) c.1127T= (p.Met376=) c.605T= (p.Met202=) n.402T= c.1169T= (p.Met390=) c.132T= c.338T= (p.Met113=) | |
| 12 | g.51916115G>A | CA384902459 | ACVRL1 | c.858G>A (p.Met286Ile) c.1128G>A (p.Met376Ile) c.606G>A (p.Met202Ile) n.403G>A c.1170G>A (p.Met390Ile) c.133G>A c.339G>A (p.Met113Ile) | |
| 12 | g.51916115G>C | CA384902461 | ACVRL1 | c.858G>C (p.Met286Ile) c.1128G>C (p.Met376Ile) c.606G>C (p.Met202Ile) n.403G>C c.1170G>C (p.Met390Ile) c.133G>C c.339G>C (p.Met113Ile) | |
| 12 | g.51916115G>T | CA384902464 | ACVRL1 | c.858G>T (p.Met286Ile) c.1128G>T (p.Met376Ile) c.606G>T (p.Met202Ile) n.403G>T c.1170G>T (p.Met390Ile) c.133G>T c.339G>T (p.Met113Ile) | |
| 12 | g.51916116G>A | CA384902467 | ACVRL1 | c.859G>A (p.Ala287Thr) c.1129G>A (p.Ala377Thr) c.607G>A (p.Ala203Thr) n.404G>A c.1171G>A (p.Ala391Thr) c.134G>A c.340G>A (p.Ala114Thr) | ClinVar dbSNP |
| 12 | g.51916116G>C | CA384902470 | ACVRL1 | c.859G>C (p.Ala287Pro) c.1129G>C (p.Ala377Pro) c.607G>C (p.Ala203Pro) n.404G>C c.1171G>C (p.Ala391Pro) c.134G>C c.340G>C (p.Ala114Pro) | |
| 12 | g.51916116G= | CA2036236912 | ACVRL1 | c.859G= (p.Ala287=) c.1129G= (p.Ala377=) c.607G= (p.Ala203=) n.404G= c.1171G= (p.Ala391=) c.134G= c.340G= (p.Ala114=) | |
| 12 | g.51916116G>T | CA384902471 | ACVRL1 | c.859G>T (p.Ala287Ser) c.1129G>T (p.Ala377Ser) c.607G>T (p.Ala203Ser) n.404G>T c.1171G>T (p.Ala391Ser) c.134G>T c.340G>T (p.Ala114Ser) | |
| 12 | g.51916117C>A | CA384902472 | ACVRL1 | c.860C>A (p.Ala287Glu) c.1130C>A (p.Ala377Glu) c.608C>A (p.Ala203Glu) n.405C>A c.1172C>A (p.Ala391Glu) c.135C>A c.341C>A (p.Ala114Glu) | |
| 12 | g.51916117C>G | CA384902475 | ACVRL1 | c.860C>G (p.Ala287Gly) c.1130C>G (p.Ala377Gly) c.608C>G (p.Ala203Gly) n.405C>G c.1172C>G (p.Ala391Gly) c.135C>G c.341C>G (p.Ala114Gly) | |
| 12 | g.51916117C>T | CA384902474 | ACVRL1 | c.860C>T (p.Ala287Val) c.1130C>T (p.Ala377Val) c.608C>T (p.Ala203Val) n.405C>T c.1172C>T (p.Ala391Val) c.135C>T c.341C>T (p.Ala114Val) | ClinVar |
| 12 | g.51916118A= | CA2036236918 | ACVRL1 | c.861A= (p.Ala287=) c.1131A= (p.Ala377=) c.609A= (p.Ala203=) n.406A= c.1173A= (p.Ala391=) c.136A= c.342A= (p.Ala114=) | |
| 12 | g.51916118A>C | CA479810631 | ACVRL1 | c.861A>C (p.Ala287=) c.1131A>C (p.Ala377=) c.609A>C (p.Ala203=) n.406A>C c.1173A>C (p.Ala391=) c.136A>C c.342A>C (p.Ala114=) | |
| 12 | g.51916118A>G | CA6573072 | ACVRL1 | c.861A>G (p.Ala287=) c.1131A>G (p.Ala377=) c.609A>G (p.Ala203=) n.406A>G c.1173A>G (p.Ala391=) c.136A>G c.342A>G (p.Ala114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916118A>T | CA479810626 | ACVRL1 | c.861A>T (p.Ala287=) c.1131A>T (p.Ala377=) c.609A>T (p.Ala203=) n.406A>T c.1173A>T (p.Ala391=) c.136A>T c.342A>T (p.Ala114=) | |
| 12 | g.51916119C>A | CA384902481 | ACVRL1 | c.862C>A (p.Pro288Thr) c.1132C>A (p.Pro378Thr) c.610C>A (p.Pro204Thr) n.407C>A c.1174C>A (p.Pro392Thr) c.137C>A c.343C>A (p.Pro115Thr) | |
| 12 | g.51916119C= | CA2036236924 | ACVRL1 | c.862C= (p.Pro288=) c.1132C= (p.Pro378=) c.610C= (p.Pro204=) n.407C= c.1174C= (p.Pro392=) c.137C= c.343C= (p.Pro115=) | |
| 12 | g.51916119C>G | CA384902483 | ACVRL1 | c.862C>G (p.Pro288Ala) c.1132C>G (p.Pro378Ala) c.610C>G (p.Pro204Ala) n.407C>G c.1174C>G (p.Pro392Ala) c.137C>G c.343C>G (p.Pro115Ala) | |
| 12 | g.51916119C>T | CA236364916 | ACVRL1 | c.862C>T (p.Pro288Ser) c.1132C>T (p.Pro378Ser) c.610C>T (p.Pro204Ser) n.407C>T c.1174C>T (p.Pro392Ser) c.137C>T c.343C>T (p.Pro115Ser) | ClinVar dbSNP |
| 12 | g.51916120C>A | CA384902488 | ACVRL1 | c.863C>A (p.Pro288His) c.1133C>A (p.Pro378His) c.611C>A (p.Pro204His) n.408C>A c.1175C>A (p.Pro392His) c.138C>A c.344C>A (p.Pro115His) | ClinVar COSMIC COSMIC |
| 12 | g.51916120C= | CA2036236930 | ACVRL1 | c.863C= (p.Pro288=) c.1133C= (p.Pro378=) c.611C= (p.Pro204=) n.408C= c.1175C= (p.Pro392=) c.138C= c.344C= (p.Pro115=) | |
| 12 | g.51916120C>G | CA384902489 | ACVRL1 | c.863C>G (p.Pro288Arg) c.1133C>G (p.Pro378Arg) c.611C>G (p.Pro204Arg) n.408C>G c.1175C>G (p.Pro392Arg) c.138C>G c.344C>G (p.Pro115Arg) | ClinVar dbSNP |
| 12 | g.51916120C>T | CA384902492 | ACVRL1 | c.863C>T (p.Pro288Leu) c.1133C>T (p.Pro378Leu) c.611C>T (p.Pro204Leu) n.408C>T c.1175C>T (p.Pro392Leu) c.138C>T c.344C>T (p.Pro115Leu) | ClinVar |
| 12 | g.51916121C>A | CA479810657 | ACVRL1 | c.864C>A (p.Pro288=) c.1134C>A (p.Pro378=) c.612C>A (p.Pro204=) n.409C>A c.1176C>A (p.Pro392=) c.139C>A c.345C>A (p.Pro115=) | |
| 12 | g.51916121C= | CA2036236935 | ACVRL1 | c.864C= (p.Pro288=) c.1134C= (p.Pro378=) c.612C= (p.Pro204=) n.409C= c.1176C= (p.Pro392=) c.139C= c.345C= (p.Pro115=) | |
| 12 | g.51916121C>G | CA479810650 | ACVRL1 | c.864C>G (p.Pro288=) c.1134C>G (p.Pro378=) c.612C>G (p.Pro204=) n.409C>G c.1176C>G (p.Pro392=) c.139C>G c.345C>G (p.Pro115=) | dbSNP |
| 12 | g.51916121C>T | CA6573073 | ACVRL1 | c.864C>T (p.Pro288=) c.1134C>T (p.Pro378=) c.612C>T (p.Pro204=) n.409C>T c.1176C>T (p.Pro392=) c.139C>T c.345C>T (p.Pro115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916122G>A | CA384902497 | ACVRL1 | c.865G>A (p.Glu289Lys) c.1135G>A (p.Glu379Lys) c.613G>A (p.Glu205Lys) n.410G>A c.1177G>A (p.Glu393Lys) c.140G>A c.346G>A (p.Glu116Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916122G>C | CA384902499 | ACVRL1 | c.865G>C (p.Glu289Gln) c.1135G>C (p.Glu379Gln) c.613G>C (p.Glu205Gln) n.410G>C c.1177G>C (p.Glu393Gln) c.140G>C c.346G>C (p.Glu116Gln) | ClinVar dbSNP |
| 12 | g.51916122G= | CA2036236944 | ACVRL1 | c.865G= (p.Glu289=) c.1135G= (p.Glu379=) c.613G= (p.Glu205=) n.410G= c.1177G= (p.Glu393=) c.140G= c.346G= (p.Glu116=) | |
| 12 | g.51916122G>T | CA384902500 | ACVRL1 | c.865G>T (p.Glu289Ter) c.1135G>T (p.Glu379Ter) c.613G>T (p.Glu205Ter) n.410G>T c.1177G>T (p.Glu393Ter) c.140G>T c.346G>T (p.Glu116Ter) | |
| 12 | g.51916123A>C | CA384902510 | ACVRL1 | c.866A>C (p.Glu289Ala) c.1136A>C (p.Glu379Ala) c.614A>C (p.Glu205Ala) n.411A>C c.1178A>C (p.Glu393Ala) c.141A>C c.347A>C (p.Glu116Ala) | ClinVar |
| 12 | g.51916123A>G | CA384902513 | ACVRL1 | c.866A>G (p.Glu289Gly) c.1136A>G (p.Glu379Gly) c.614A>G (p.Glu205Gly) n.411A>G c.1178A>G (p.Glu393Gly) c.141A>G c.347A>G (p.Glu116Gly) | ClinVar |
| 12 | g.51916123A>T | CA384902503 | ACVRL1 | c.866A>T (p.Glu289Val) c.1136A>T (p.Glu379Val) c.614A>T (p.Glu205Val) n.411A>T c.1178A>T (p.Glu393Val) c.141A>T c.347A>T (p.Glu116Val) | ClinVar |
| 12 | g.51916124G>A | CA6573074 | ACVRL1 | c.867G>A (p.Glu289=) c.1137G>A (p.Glu379=) c.615G>A (p.Glu205=) n.412G>A c.1179G>A (p.Glu393=) c.142G>A c.348G>A (p.Glu116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916124G>C | CA384902520 | ACVRL1 | c.867G>C (p.Glu289Asp) c.1137G>C (p.Glu379Asp) c.615G>C (p.Glu205Asp) n.412G>C c.1179G>C (p.Glu393Asp) c.142G>C c.348G>C (p.Glu116Asp) | |
| 12 | g.51916124G= | CA2036236946 | ACVRL1 | c.867G= (p.Glu289=) c.1137G= (p.Glu379=) c.615G= (p.Glu205=) n.412G= c.1179G= (p.Glu393=) c.142G= c.348G= (p.Glu116=) | |
| 12 | g.51916124G>T | CA384902517 | ACVRL1 | c.867G>T (p.Glu289Asp) c.1137G>T (p.Glu379Asp) c.615G>T (p.Glu205Asp) n.412G>T c.1179G>T (p.Glu393Asp) c.142G>T c.348G>T (p.Glu116Asp) | |
| 12 | g.51916125G>A | CA6573075 | ACVRL1 | c.868G>A (p.Val290Met) c.1138G>A (p.Val380Met) c.616G>A (p.Val206Met) n.413G>A c.1180G>A (p.Val394Met) c.143G>A c.349G>A (p.Val117Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916125G>C | CA384902526 | ACVRL1 | c.868G>C (p.Val290Leu) c.1138G>C (p.Val380Leu) c.616G>C (p.Val206Leu) n.413G>C c.1180G>C (p.Val394Leu) c.143G>C c.349G>C (p.Val117Leu) | |
| 12 | g.51916125G= | CA2036236948 | ACVRL1 | c.868G= (p.Val290=) c.1138G= (p.Val380=) c.616G= (p.Val206=) n.413G= c.1180G= (p.Val394=) c.143G= c.349G= (p.Val117=) | |
| 12 | g.51916125G>T | CA384902523 | ACVRL1 | c.868G>T (p.Val290Leu) c.1138G>T (p.Val380Leu) c.616G>T (p.Val206Leu) n.413G>T c.1180G>T (p.Val394Leu) c.143G>T c.349G>T (p.Val117Leu) | gnomAD v4 |
| 12 | g.51916125_51916126delinsTG | CA645594554 | ACVRL1 | c.868_869delinsTG (p.Val290Trp) c.1138_1139delinsTG (p.Val380Trp) c.616_617delinsTG (p.Val206Trp) n.413_414delinsTG c.1180_1181delinsTG (p.Val394Trp) c.143_144delinsTG c.349_350delinsTG (p.Val117Trp) | COSMIC |
| 12 | g.51916126T>A | CA384902528 | ACVRL1 | c.869T>A (p.Val290Glu) c.1139T>A (p.Val380Glu) c.617T>A (p.Val206Glu) n.414T>A c.1181T>A (p.Val394Glu) c.144T>A c.350T>A (p.Val117Glu) | |
| 12 | g.51916126T>C | CA384902536 | ACVRL1 | c.869T>C (p.Val290Ala) c.1139T>C (p.Val380Ala) c.617T>C (p.Val206Ala) n.414T>C c.1181T>C (p.Val394Ala) c.144T>C c.350T>C (p.Val117Ala) | |
| 12 | g.51916126T>G | CA384902538 | ACVRL1 | c.869T>G (p.Val290Gly) c.1139T>G (p.Val380Gly) c.617T>G (p.Val206Gly) n.414T>G c.1181T>G (p.Val394Gly) c.144T>G c.350T>G (p.Val117Gly) | |
| 12 | g.51916127G>A | CA479810736 | ACVRL1 | c.870G>A (p.Val290=) c.1140G>A (p.Val380=) c.618G>A (p.Val206=) n.415G>A c.1182G>A (p.Val394=) c.145G>A c.351G>A (p.Val117=) | |
| 12 | g.51916127G>C | CA479810739 | ACVRL1 | c.870G>C (p.Val290=) c.1140G>C (p.Val380=) c.618G>C (p.Val206=) n.415G>C c.1182G>C (p.Val394=) c.145G>C c.351G>C (p.Val117=) | |
| 12 | g.51916127G>T | CA479810746 | ACVRL1 | c.870G>T (p.Val290=) c.1140G>T (p.Val380=) c.618G>T (p.Val206=) n.415G>T c.1182G>T (p.Val394=) c.145G>T c.351G>T (p.Val117=) | |
| 12 | g.51916128C>A | CA384902543 | ACVRL1 | c.871C>A (p.Leu291Met) c.1141C>A (p.Leu381Met) c.619C>A (p.Leu207Met) n.416C>A c.1183C>A (p.Leu395Met) c.146C>A c.352C>A (p.Leu118Met) | |
| 12 | g.51916128C>G | CA384902550 | ACVRL1 | c.871C>G (p.Leu291Val) c.1141C>G (p.Leu381Val) c.619C>G (p.Leu207Val) n.416C>G c.1183C>G (p.Leu395Val) c.146C>G c.352C>G (p.Leu118Val) | |
| 12 | g.51916128C>T | CA479810754 | ACVRL1 | c.871C>T (p.Leu291=) c.1141C>T (p.Leu381=) c.619C>T (p.Leu207=) n.416C>T c.1183C>T (p.Leu395=) c.146C>T c.352C>T (p.Leu118=) | dbSNP |
| 12 | g.51916129T>A | CA384902558 | ACVRL1 | c.872T>A (p.Leu291Gln) c.1142T>A (p.Leu381Gln) c.620T>A (p.Leu207Gln) n.417T>A c.1184T>A (p.Leu395Gln) c.147T>A c.353T>A (p.Leu118Gln) | |
| 12 | g.51916129T>C | CA384902555 | ACVRL1 | c.872T>C (p.Leu291Pro) c.1142T>C (p.Leu381Pro) c.620T>C (p.Leu207Pro) n.417T>C c.1184T>C (p.Leu395Pro) c.147T>C c.353T>C (p.Leu118Pro) | ClinVar dbSNP |
| 12 | g.51916129T>G | CA384902554 | ACVRL1 | c.872T>G (p.Leu291Arg) c.1142T>G (p.Leu381Arg) c.620T>G (p.Leu207Arg) n.417T>G c.1184T>G (p.Leu395Arg) c.147T>G c.353T>G (p.Leu118Arg) | |
| 12 | g.51916129T= | CA2036236956 | ACVRL1 | c.872T= (p.Leu291=) c.1142T= (p.Leu381=) c.620T= (p.Leu207=) n.417T= c.1184T= (p.Leu395=) c.147T= c.353T= (p.Leu118=) | |
| 12 | g.51916129_51916130delinsTG | CA2036236953 | ACVRL1 | c.872_873delinsTG (p.Leu291=) c.1142_1143delinsTG (p.Leu381=) c.620_621delinsTG (p.Leu207=) n.417_418delinsTG c.1184_1185delinsTG (p.Leu395=) c.147_148delinsTG c.353_354delinsTG (p.Leu118=) | |
| 12 | g.51916130G>A | CA479810759 | ACVRL1 | c.873G>A (p.Leu291=) c.1143G>A (p.Leu381=) c.621G>A (p.Leu207=) n.418G>A c.1185G>A (p.Leu395=) c.148G>A c.354G>A (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916130G>C | CA479810766 | ACVRL1 | c.873G>C (p.Leu291=) c.1143G>C (p.Leu381=) c.621G>C (p.Leu207=) n.418G>C c.1185G>C (p.Leu395=) c.148G>C c.354G>C (p.Leu118=) | |
| 12 | g.51916130G= | CA2036236962 | ACVRL1 | c.873G= (p.Leu291=) c.1143G= (p.Leu381=) c.621G= (p.Leu207=) n.418G= c.1185G= (p.Leu395=) c.148G= c.354G= (p.Leu118=) | |
| 12 | g.51916130G>T | CA479810781 | ACVRL1 | c.873G>T (p.Leu291=) c.1143G>T (p.Leu381=) c.621G>T (p.Leu207=) n.418G>T c.1185G>T (p.Leu395=) c.148G>T c.354G>T (p.Leu118=) | |
| 12 | g.51916131del | CA913190987 | ACVRL1 | c.874del (p.Asp292ThrfsTer?) c.1144del (p.Asp382ThrfsTer?) c.622del (p.Asp208ThrfsTer?) n.419del c.1186del (p.Asp396ThrfsTer?) c.149del c.355del (p.Asp119ThrfsTer?) | ClinVar dbSNP |
| 12 | g.51916131G>A | CA384902561 | ACVRL1 | c.874G>A (p.Asp292Asn) c.1144G>A (p.Asp382Asn) c.622G>A (p.Asp208Asn) n.419G>A c.1186G>A (p.Asp396Asn) c.149G>A c.355G>A (p.Asp119Asn) | |
| 12 | g.51916131G>C | CA384902564 | ACVRL1 | c.874G>C (p.Asp292His) c.1144G>C (p.Asp382His) c.622G>C (p.Asp208His) n.419G>C c.1186G>C (p.Asp396His) c.149G>C c.355G>C (p.Asp119His) | |
| 12 | g.51916131G>T | CA384902565 | ACVRL1 | c.874G>T (p.Asp292Tyr) c.1144G>T (p.Asp382Tyr) c.622G>T (p.Asp208Tyr) n.419G>T c.1186G>T (p.Asp396Tyr) c.149G>T c.355G>T (p.Asp119Tyr) | |
| 12 | g.51916132A>C | CA384902568 | ACVRL1 | c.875A>C (p.Asp292Ala) c.1145A>C (p.Asp382Ala) c.623A>C (p.Asp208Ala) n.420A>C c.1187A>C (p.Asp396Ala) c.150A>C c.356A>C (p.Asp119Ala) | |
| 12 | g.51916132A>G | CA384902570 | ACVRL1 | c.875A>G (p.Asp292Gly) c.1145A>G (p.Asp382Gly) c.623A>G (p.Asp208Gly) n.420A>G c.1187A>G (p.Asp396Gly) c.150A>G c.356A>G (p.Asp119Gly) | gnomAD v4 |
| 12 | g.51916132A>T | CA384902572 | ACVRL1 | c.875A>T (p.Asp292Val) c.1145A>T (p.Asp382Val) c.623A>T (p.Asp208Val) n.420A>T c.1187A>T (p.Asp396Val) c.150A>T c.356A>T (p.Asp119Val) | |
| 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 |