Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51916090C>ACA384902288ACVRL1c.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
12g.51916090C=CA2036236817ACVRL1c.833C= (p.Pro278=)
c.1103C= (p.Pro368=)
c.581C= (p.Pro194=)
n.378C=
c.1145C= (p.Pro382=)
c.108C=
c.314C= (p.Pro105=)
12g.51916090C>GCA384902290ACVRL1c.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)
12g.51916090C>TCA6573069ACVRL1c.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
12g.51916091G>ACA6573070ACVRL1c.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
12g.51916091G>CCA479810394ACVRL1c.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=)
12g.51916091G=CA2036236824ACVRL1c.834G= (p.Pro278=)
c.1104G= (p.Pro368=)
c.582G= (p.Pro194=)
n.379G=
c.1146G= (p.Pro382=)
c.109G=
c.315G= (p.Pro105=)
12g.51916091G>TCA479810395ACVRL1c.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=)
12g.51916094_51916095delCA2695216672ACVRL1c.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)
12g.51916092A>CCA479810399ACVRL1c.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=)
12g.51916092A>GCA384902294ACVRL1c.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
12g.51916092A>TCA384902297ACVRL1c.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)
12g.51916093G>ACA384902311ACVRL1c.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)
12g.51916093G>CCA384902313ACVRL1c.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)
12g.51916093G>TCA384902315ACVRL1c.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)
12g.51916094A>CCA384902317ACVRL1c.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)
12g.51916094A>GCA479810414ACVRL1c.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=)
12g.51916094A>TCA384902318ACVRL1c.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)
12g.51916095G>ACA384902319ACVRL1c.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
12g.51916095G>CCA384902320ACVRL1c.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)
12g.51916095G>TCA384902321ACVRL1c.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)
12g.51916096T>ACA384902322ACVRL1c.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
12g.51916096T>CCA384902323ACVRL1c.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)
12g.51916096T>GCA384902325ACVRL1c.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
12g.51916097G>ACA479810430ACVRL1c.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
12g.51916097G>CCA479810432ACVRL1c.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=)
12g.51916097G>TCA479810435ACVRL1c.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=)
12g.51916099dupCA2618859563ACVRL1c.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
12g.51916098G>ACA384902330ACVRL1c.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
12g.51916098G>CCA384902336ACVRL1c.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)
12g.51916098G>TCA384902334ACVRL1c.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
12g.51916099G>ACA384902343ACVRL1c.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
12g.51916099G>CCA384902347ACVRL1c.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
12g.51916099G=CA2036236835ACVRL1c.842G= (p.Gly281=)
c.1112G= (p.Gly371=)
c.590G= (p.Gly197=)
n.387G=
c.1154G= (p.Gly385=)
c.117G=
c.323G= (p.Gly108=)
12g.51916099G>TCA384902346ACVRL1c.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)
12g.51916100C>ACA479810455ACVRL1c.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=)
12g.51916100C=CA2036236837ACVRL1c.843C= (p.Gly281=)
c.1113C= (p.Gly371=)
c.591C= (p.Gly197=)
n.388C=
c.1155C= (p.Gly385=)
c.118C=
c.324C= (p.Gly108=)
12g.51916100C>GCA479810460ACVRL1c.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=)
12g.51916100C>TCA479810463ACVRL1c.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
12g.51916100_51916101insGCA119412ACVRL1c.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
12g.51916101A>CCA384902350ACVRL1c.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
12g.51916101A>GCA384902355ACVRL1c.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)
12g.51916101A>TCA384902358ACVRL1c.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)
12g.51916102C>ACA384902362ACVRL1c.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)
12g.51916102C=CA2036236851ACVRL1c.845C= (p.Thr282=)
c.1115C= (p.Thr372=)
c.593C= (p.Thr198=)
n.390C=
c.1157C= (p.Thr386=)
c.120C=
c.326C= (p.Thr109=)
12g.51916102C>GCA384902365ACVRL1c.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)
12g.51916102C>TCA384902371ACVRL1c.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
12g.51916103C>ACA479810479ACVRL1c.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=)
12g.51916103C=CA2036236855ACVRL1c.846C= (p.Thr282=)
c.1116C= (p.Thr372=)
c.594C= (p.Thr198=)
n.391C=
c.1158C= (p.Thr386=)
c.121C=
c.327C= (p.Thr109=)
12g.51916103C>GCA479810482ACVRL1c.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=)
12g.51916103C>TCA479810485ACVRL1c.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
12g.51916104A>CCA384902374ACVRL1c.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)
12g.51916104A>GCA384902376ACVRL1c.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)
12g.51916104A>TCA384902382ACVRL1c.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)
12g.51916105delCA2695216673ACVRL1c.848del (p.Lys283SerfsTer?)
c.1118del (p.Lys373SerfsTer?)
c.596del (p.Lys199SerfsTer?)
n.393del
c.1160del (p.Lys387SerfsTer?)
c.123del
c.329del (p.Lys110SerfsTer?)
12g.51916105A=CA2036236862ACVRL1c.848A= (p.Lys283=)
c.1118A= (p.Lys373=)
c.596A= (p.Lys199=)
n.393A=
c.1160A= (p.Lys387=)
c.123A=
c.329A= (p.Lys110=)
12g.51916105A>CCA384902384ACVRL1c.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)
12g.51916105A>GCA384902385ACVRL1c.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
12g.51916105A>TCA384902388ACVRL1c.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)
12g.51916107_51916124delCA2695216674ACVRL1c.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)
12g.51916106G>ACA479810504ACVRL1c.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
12g.51916106G>CCA384902390ACVRL1c.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)
12g.51916106G>TCA384902393ACVRL1c.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)
12g.51916107C>ACA479810514ACVRL1c.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
12g.51916107C=CA913187495ACVRL1c.850C= (p.Arg284=)
c.1120C= (p.Arg374=)
c.598C= (p.Arg200=)
n.395C=
c.1162C= (p.Arg388=)
c.125C=
c.331C= (p.Arg111=)
12g.51916107C>GCA384902394ACVRL1c.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
12g.51916107C>TCA119397ACVRL1c.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
12g.51916107_51916108delinsCGCA2036236873ACVRL1c.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=)
12g.51916108G>ACA16614168ACVRL1c.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
12g.51916108G>CCA384902407ACVRL1c.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
12g.51916108G=CA2036236881ACVRL1c.851G= (p.Arg284=)
c.1121G= (p.Arg374=)
c.599G= (p.Arg200=)
n.396G=
c.1163G= (p.Arg388=)
c.126G=
c.332G= (p.Arg111=)
12g.51916108G>TCA384902411ACVRL1c.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)
12g.51916109delCA320332ACVRL1c.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
12g.51916108_51916111dupCA1139770871ACVRL1c.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)
12g.51916109G>ACA479810535ACVRL1c.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
12g.51916109G>CCA479810538ACVRL1c.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=)
12g.51916109G=CA2036236889ACVRL1c.852G= (p.Arg284=)
c.1122G= (p.Arg374=)
c.600G= (p.Arg200=)
n.397G=
c.1164G= (p.Arg388=)
c.127G=
c.333G= (p.Arg111=)
12g.51916109G>TCA6573071ACVRL1c.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
12g.51916109_51916112dupCA2695216677ACVRL1c.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)
12g.51916110_51916148dupCA2580086498ACVRL1c.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
12g.51916110T>ACA384902420ACVRL1c.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
12g.51916110T>CCA384902423ACVRL1c.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
12g.51916110T>GCA384902426ACVRL1c.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
12g.51916111A=CA2036236895ACVRL1c.854A= (p.Tyr285=)
c.1124A= (p.Tyr375=)
c.602A= (p.Tyr201=)
n.399A=
c.1166A= (p.Tyr389=)
c.129A=
c.335A= (p.Tyr112=)
12g.51916111A>CCA384902435ACVRL1c.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)
12g.51916111A>GCA384902433ACVRL1c.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
12g.51916111A>TCA384902432ACVRL1c.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
12g.51916112C>ACA384902437ACVRL1c.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
12g.51916112C>GCA384902439ACVRL1c.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)
12g.51916112C>TCA479810560ACVRL1c.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=)
12g.51916113A=CA2036236899ACVRL1c.856A= (p.Met286=)
c.1126A= (p.Met376=)
c.604A= (p.Met202=)
n.401A=
c.1168A= (p.Met390=)
c.131A=
c.337A= (p.Met113=)
12g.51916113A>CCA384902441ACVRL1c.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)
12g.51916113A>GCA384902445ACVRL1c.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
12g.51916113A>TCA384902448ACVRL1c.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)
12g.51916114T>ACA384902457ACVRL1c.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)
12g.51916114T>CCA384902454ACVRL1c.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)
12g.51916114T>GCA254367ACVRL1c.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
12g.51916114T=CA2036236907ACVRL1c.857T= (p.Met286=)
c.1127T= (p.Met376=)
c.605T= (p.Met202=)
n.402T=
c.1169T= (p.Met390=)
c.132T=
c.338T= (p.Met113=)
12g.51916115G>ACA384902459ACVRL1c.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)
12g.51916115G>CCA384902461ACVRL1c.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)
12g.51916115G>TCA384902464ACVRL1c.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)
12g.51916116G>ACA384902467ACVRL1c.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
12g.51916116G>CCA384902470ACVRL1c.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)
12g.51916116G=CA2036236912ACVRL1c.859G= (p.Ala287=)
c.1129G= (p.Ala377=)
c.607G= (p.Ala203=)
n.404G=
c.1171G= (p.Ala391=)
c.134G=
c.340G= (p.Ala114=)
12g.51916116G>TCA384902471ACVRL1c.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)
12g.51916117C>ACA384902472ACVRL1c.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)
12g.51916117C>GCA384902475ACVRL1c.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)
12g.51916117C>TCA384902474ACVRL1c.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
12g.51916118A=CA2036236918ACVRL1c.861A= (p.Ala287=)
c.1131A= (p.Ala377=)
c.609A= (p.Ala203=)
n.406A=
c.1173A= (p.Ala391=)
c.136A=
c.342A= (p.Ala114=)
12g.51916118A>CCA479810631ACVRL1c.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=)
12g.51916118A>GCA6573072ACVRL1c.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
12g.51916118A>TCA479810626ACVRL1c.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=)
12g.51916119C>ACA384902481ACVRL1c.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)
12g.51916119C=CA2036236924ACVRL1c.862C= (p.Pro288=)
c.1132C= (p.Pro378=)
c.610C= (p.Pro204=)
n.407C=
c.1174C= (p.Pro392=)
c.137C=
c.343C= (p.Pro115=)
12g.51916119C>GCA384902483ACVRL1c.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)
12g.51916119C>TCA236364916ACVRL1c.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
12g.51916120C>ACA384902488ACVRL1c.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
12g.51916120C=CA2036236930ACVRL1c.863C= (p.Pro288=)
c.1133C= (p.Pro378=)
c.611C= (p.Pro204=)
n.408C=
c.1175C= (p.Pro392=)
c.138C=
c.344C= (p.Pro115=)
12g.51916120C>GCA384902489ACVRL1c.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
12g.51916120C>TCA384902492ACVRL1c.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
12g.51916121C>ACA479810657ACVRL1c.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=)
12g.51916121C=CA2036236935ACVRL1c.864C= (p.Pro288=)
c.1134C= (p.Pro378=)
c.612C= (p.Pro204=)
n.409C=
c.1176C= (p.Pro392=)
c.139C=
c.345C= (p.Pro115=)
12g.51916121C>GCA479810650ACVRL1c.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
12g.51916121C>TCA6573073ACVRL1c.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
12g.51916122G>ACA384902497ACVRL1c.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
12g.51916122G>CCA384902499ACVRL1c.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
12g.51916122G=CA2036236944ACVRL1c.865G= (p.Glu289=)
c.1135G= (p.Glu379=)
c.613G= (p.Glu205=)
n.410G=
c.1177G= (p.Glu393=)
c.140G=
c.346G= (p.Glu116=)
12g.51916122G>TCA384902500ACVRL1c.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)
12g.51916123A>CCA384902510ACVRL1c.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
12g.51916123A>GCA384902513ACVRL1c.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
12g.51916123A>TCA384902503ACVRL1c.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
12g.51916124G>ACA6573074ACVRL1c.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
12g.51916124G>CCA384902520ACVRL1c.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)
12g.51916124G=CA2036236946ACVRL1c.867G= (p.Glu289=)
c.1137G= (p.Glu379=)
c.615G= (p.Glu205=)
n.412G=
c.1179G= (p.Glu393=)
c.142G=
c.348G= (p.Glu116=)
12g.51916124G>TCA384902517ACVRL1c.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)
12g.51916125G>ACA6573075ACVRL1c.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
12g.51916125G>CCA384902526ACVRL1c.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)
12g.51916125G=CA2036236948ACVRL1c.868G= (p.Val290=)
c.1138G= (p.Val380=)
c.616G= (p.Val206=)
n.413G=
c.1180G= (p.Val394=)
c.143G=
c.349G= (p.Val117=)
12g.51916125G>TCA384902523ACVRL1c.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
12g.51916125_51916126delinsTGCA645594554ACVRL1c.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
12g.51916126T>ACA384902528ACVRL1c.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)
12g.51916126T>CCA384902536ACVRL1c.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)
12g.51916126T>GCA384902538ACVRL1c.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)
12g.51916127G>ACA479810736ACVRL1c.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=)
12g.51916127G>CCA479810739ACVRL1c.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=)
12g.51916127G>TCA479810746ACVRL1c.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=)
12g.51916128C>ACA384902543ACVRL1c.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)
12g.51916128C>GCA384902550ACVRL1c.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)
12g.51916128C>TCA479810754ACVRL1c.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
12g.51916129T>ACA384902558ACVRL1c.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)
12g.51916129T>CCA384902555ACVRL1c.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
12g.51916129T>GCA384902554ACVRL1c.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)
12g.51916129T=CA2036236956ACVRL1c.872T= (p.Leu291=)
c.1142T= (p.Leu381=)
c.620T= (p.Leu207=)
n.417T=
c.1184T= (p.Leu395=)
c.147T=
c.353T= (p.Leu118=)
12g.51916129_51916130delinsTGCA2036236953ACVRL1c.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=)
12g.51916130G>ACA479810759ACVRL1c.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
12g.51916130G>CCA479810766ACVRL1c.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=)
12g.51916130G=CA2036236962ACVRL1c.873G= (p.Leu291=)
c.1143G= (p.Leu381=)
c.621G= (p.Leu207=)
n.418G=
c.1185G= (p.Leu395=)
c.148G=
c.354G= (p.Leu118=)
12g.51916130G>TCA479810781ACVRL1c.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=)
12g.51916131delCA913190987ACVRL1c.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
12g.51916131G>ACA384902561ACVRL1c.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)
12g.51916131G>CCA384902564ACVRL1c.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)
12g.51916131G>TCA384902565ACVRL1c.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)
12g.51916132A>CCA384902568ACVRL1c.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)
12g.51916132A>GCA384902570ACVRL1c.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
12g.51916132A>TCA384902572ACVRL1c.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)
12g.51916133C>ACA384902583ACVRL1c.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
12g.51916133C=CA2036236965ACVRL1c.876C= (p.Asp292=)
c.1146C= (p.Asp382=)
c.624C= (p.Asp208=)
n.421C=
c.1188C= (p.Asp396=)
c.151C=
c.357C= (p.Asp119=)
12g.51916133C>GCA384902576ACVRL1c.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)
12g.51916133C>TCA6573076ACVRL1c.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
12g.51916134G>ACA6573077ACVRL1c.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
12g.51916134G>CCA384902586ACVRL1c.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
12g.51916134G=CA2036236971ACVRL1c.877G= (p.Glu293=)
c.1147G= (p.Glu383=)
c.625G= (p.Glu209=)
n.422G=
c.1189G= (p.Glu397=)
c.152G=
c.358G= (p.Glu120=)
12g.51916134G>TCA384902589ACVRL1c.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
12g.51916135A>CCA384902590ACVRL1c.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)
12g.51916135A>GCA384902591ACVRL1c.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)
12g.51916135A>TCA384902601ACVRL1c.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)
12g.51916136G>ACA6573078ACVRL1c.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
12g.51916136G>CCA384902607ACVRL1c.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)
12g.51916136G=CA2036236978ACVRL1c.879G= (p.Glu293=)
c.1149G= (p.Glu383=)
c.627G= (p.Glu209=)
n.424G=
c.1191G= (p.Glu397=)
c.154G=
c.360G= (p.Glu120=)
12g.51916136G>TCA384902611ACVRL1c.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)
12g.51916137C>ACA384902614ACVRL1c.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
12g.51916137C>GCA384902617ACVRL1c.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)
12g.51916137C>TCA384902619ACVRL1c.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)
12g.51916138A=CA2036236980ACVRL1c.881A= (p.Gln294=)
c.1151A= (p.Gln384=)
c.629A= (p.Gln210=)
n.426A=
c.1193A= (p.Gln398=)
c.156A=
c.362A= (p.Gln121=)
12g.51916138A>CCA384902622ACVRL1c.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)
12g.51916138A>GCA384902624ACVRL1c.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
12g.51916138A>TCA384902623ACVRL1c.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)
12g.51916139G>ACA479810857ACVRL1c.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
12g.51916139G>CCA384902625ACVRL1c.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)
12g.51916139G>TCA384902626ACVRL1c.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)
12g.51916140_51916144dupCA916081671ACVRL1c.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
12g.51916140A=CA2036236989ACVRL1c.883A= (p.Ile295=)
c.1153A= (p.Ile385=)
c.631A= (p.Ile211=)
n.428A=
c.1195A= (p.Ile399=)
c.158A=
c.364A= (p.Ile122=)
12g.51916140A>CCA384902628ACVRL1c.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
12g.51916140A>GCA384902630ACVRL1c.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)
12g.51916140A>TCA384902633ACVRL1c.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
12g.51916141T>ACA384902637ACVRL1c.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)
12g.51916141T>CCA384902638ACVRL1c.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
12g.51916141T>GCA384902641ACVRL1c.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)
12g.51916142C>ACA479810895ACVRL1c.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=)
12g.51916142C=CA2036236992ACVRL1c.885C= (p.Ile295=)
c.1155C= (p.Ile385=)
c.633C= (p.Ile211=)
n.430C=
c.1197C= (p.Ile399=)
c.160C=
c.366C= (p.Ile122=)
12g.51916142C>GCA384902644ACVRL1c.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)
12g.51916142C>TCA479810899ACVRL1c.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
12g.51916143C>ACA384902650ACVRL1c.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)
12g.51916143C=CA2036236994ACVRL1c.886C= (p.Arg296=)
c.1156C= (p.Arg386=)
c.634C= (p.Arg212=)
n.431C=
c.1198C= (p.Arg400=)
c.161C=
c.367C= (p.Arg123=)
12g.51916143C>GCA384902652ACVRL1c.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
12g.51916143C>TCA384902654ACVRL1c.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
12g.51916144G>ACA211329ACVRL1c.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
12g.51916144G>CCA384902655ACVRL1c.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)
12g.51916144G=CA2036236998ACVRL1c.887G= (p.Arg296=)
c.1157G= (p.Arg386=)
c.635G= (p.Arg212=)
n.432G=
c.1199G= (p.Arg400=)
c.162G=
c.368G= (p.Arg123=)
12g.51916144G>TCA384902657ACVRL1c.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)
12g.51916145C>ACA479810927ACVRL1c.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=)
12g.51916145C>GCA479810924ACVRL1c.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=)
12g.51916145C>TCA479810920ACVRL1c.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
12g.51916146A=CA2036237000ACVRL1c.889A= (p.Thr297=)
c.1159A= (p.Thr387=)
c.637A= (p.Thr213=)
n.434A=
c.1201A= (p.Thr401=)
c.164A=
c.370A= (p.Thr124=)
12g.51916146A>CCA384902662ACVRL1c.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)
12g.51916146A>GCA384902665ACVRL1c.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
12g.51916146A>TCA384902667ACVRL1c.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)
12g.51916147C>ACA384902670ACVRL1c.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)
12g.51916147C=CA2036237002ACVRL1c.890C= (p.Thr297=)
c.1160C= (p.Thr387=)
c.638C= (p.Thr213=)
n.435C=
c.1202C= (p.Thr401=)
c.165C=
c.371C= (p.Thr124=)
12g.51916147C>GCA384902673ACVRL1c.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)
12g.51916147C>TCA6573079ACVRL1c.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
12g.51916148G>ACA6573080ACVRL1c.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
12g.51916148G>CCA479810957ACVRL1c.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
12g.51916148G=CA2036237006ACVRL1c.891G= (p.Thr297=)
c.1161G= (p.Thr387=)
c.639G= (p.Thr213=)
n.436G=
c.1203G= (p.Thr401=)
c.166G=
c.372G= (p.Thr124=)
12g.51916148G>TCA479810953ACVRL1c.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=)
12g.51916149G>ACA384902682ACVRL1c.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
12g.51916149G>CCA384902684ACVRL1c.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)
12g.51916149G=CA2036237010ACVRL1c.892G= (p.Asp298=)
c.1162G= (p.Asp388=)
c.640G= (p.Asp214=)
n.437G=
c.1204G= (p.Asp402=)
c.167G=
c.373G= (p.Asp125=)
12g.51916149G>TCA384902687ACVRL1c.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)
12g.51916149_51916164delinsGACTGCTTTGAGTCCTCA2036237009ACVRL1c.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=)
12g.51916150A=CA2036237015ACVRL1c.893A= (p.Asp298=)
c.1163A= (p.Asp388=)
c.641A= (p.Asp214=)
n.438A=
c.1205A= (p.Asp402=)
c.168A=
c.374A= (p.Asp125=)
12g.51916150A>CCA384902695ACVRL1c.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)
12g.51916150A>GCA384902692ACVRL1c.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
12g.51916150A>TCA384902690ACVRL1c.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)
12g.51916152_51916166delCA916081672ACVRL1c.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
12g.51916151C>ACA6573081ACVRL1c.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
12g.51916151C=CA2036237019ACVRL1c.894C= (p.Asp298=)
c.1164C= (p.Asp388=)
c.642C= (p.Asp214=)
n.439C=
c.1206C= (p.Asp402=)
c.169C=
c.375C= (p.Asp125=)
12g.51916151C>GCA384902696ACVRL1c.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)
12g.51916151C>TCA479811006ACVRL1c.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=)
12g.51916152T>ACA384902697ACVRL1c.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)
12g.51916152T>CCA236364959ACVRL1c.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
12g.51916152T>GCA384902700ACVRL1c.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
12g.51916152T=CA2036237022ACVRL1c.895T= (p.Cys299=)
c.1165T= (p.Cys389=)
c.643T= (p.Cys215=)
n.440T=
c.1207T= (p.Cys403=)
c.170T=
c.376T= (p.Cys126=)
12g.51916153G>ACA384902705ACVRL1c.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
12g.51916153G>CCA384902707ACVRL1c.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)
12g.51916153G=CA2036237024ACVRL1c.896G= (p.Cys299=)
c.1166G= (p.Cys389=)
c.644G= (p.Cys215=)
n.441G=
c.1208G= (p.Cys403=)
c.171G=
c.377G= (p.Cys126=)
12g.51916153G>TCA384902709ACVRL1c.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
12g.51916154C>ACA384902710ACVRL1c.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
12g.51916154C=CA2036237029ACVRL1c.897C= (p.Cys299=)
c.1167C= (p.Cys389=)
c.645C= (p.Cys215=)
n.442C=
c.1209C= (p.Cys403=)
c.172C=
c.378C= (p.Cys126=)
12g.51916154C>GCA384902711ACVRL1c.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
12g.51916154C>TCA479811036ACVRL1c.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
12g.51916155T>ACA384902712ACVRL1c.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)
12g.51916155T>CCA384902713ACVRL1c.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)
12g.51916155T>GCA384902714ACVRL1c.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
12g.51916156T>ACA384902718ACVRL1c.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)
12g.51916156T>CCA384902716ACVRL1c.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)
12g.51916156T>GCA384902717ACVRL1c.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)
12g.51916157T>ACA384902720ACVRL1c.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)
12g.51916157T>CCA479811064ACVRL1c.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=)
12g.51916157T>GCA384902721ACVRL1c.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)
12g.51916158G>ACA384902723ACVRL1c.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)
12g.51916158G>CCA384902725ACVRL1c.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)
12g.51916158G=CA2036237034ACVRL1c.901G= (p.Glu301=)
c.1171G= (p.Glu391=)
c.649G= (p.Glu217=)
n.446G=
c.1213G= (p.Glu405=)
c.176G=
c.382G= (p.Glu128=)
12g.51916158G>TCA384902726ACVRL1c.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
12g.51916159A>CCA384902729ACVRL1c.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)
12g.51916159A>GCA384902732ACVRL1c.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
12g.51916159A>TCA384902733ACVRL1c.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)
12g.51916160G>ACA6573082ACVRL1c.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
12g.51916160G>CCA384902737ACVRL1c.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)
12g.51916160G=CA2036237038ACVRL1c.903G= (p.Glu301=)
c.1173G= (p.Glu391=)
c.651G= (p.Glu217=)
n.448G=
c.1215G= (p.Glu405=)
c.178G=
c.384G= (p.Glu128=)
12g.51916160G>TCA384902739ACVRL1c.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)
12g.51916161T>ACA384902744ACVRL1c.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)
12g.51916161T>CCA384902747ACVRL1c.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)
12g.51916161T>GCA384902741ACVRL1c.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)
12g.51916162C>ACA384902756ACVRL1c.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)
12g.51916162C>GCA384902758ACVRL1c.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)
12g.51916162C>TCA384902760ACVRL1c.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)
12g.51916163C>ACA479811106ACVRL1c.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=)
12g.51916163C>GCA479811112ACVRL1c.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=)
12g.51916163C>TCA479811111ACVRL1c.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
12g.51916164T>ACA384902762ACVRL1c.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)
12g.51916164T>CCA6573083ACVRL1c.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
12g.51916164T>GCA384902765ACVRL1c.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)
12g.51916164T=CA2036237044ACVRL1c.907T= (p.Tyr303=)
c.1177T= (p.Tyr393=)
c.655T= (p.Tyr219=)
n.452T=
c.1219T= (p.Tyr407=)
c.182T=
c.388T= (p.Tyr130=)
12g.51916164_51916166delinsCAACA891843497ACVRL1c.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
12g.51916164_51916166delinsTACCA2036237046ACVRL1c.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=)
12g.51916165A=CA2036237051ACVRL1c.908A= (p.Tyr303=)
c.1178A= (p.Tyr393=)
c.656A= (p.Tyr219=)
n.453A=
c.1220A= (p.Tyr407=)
c.183A=
c.389A= (p.Tyr130=)
12g.51916165A>CCA384902770ACVRL1c.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
12g.51916165A>GCA384902768ACVRL1c.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
12g.51916165A>TCA384902769ACVRL1c.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)
12g.51916166C>ACA6573084ACVRL1c.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
12g.51916166C=CA2036237056ACVRL1c.909C= (p.Tyr303=)
c.1179C= (p.Tyr393=)
c.657C= (p.Tyr219=)
n.454C=
c.1221C= (p.Tyr407=)
c.184C=
c.390C= (p.Tyr130=)
12g.51916166C>GCA384902771ACVRL1c.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)
12g.51916166C>TCA479811126ACVRL1c.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=)
12g.51916167A>CCA384902772ACVRL1c.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)
12g.51916167A>GCA384902773ACVRL1c.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)
12g.51916167A>TCA384902776ACVRL1c.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)
12g.51916168A>CCA384902779ACVRL1c.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)
12g.51916168A>GCA384902783ACVRL1c.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
12g.51916168A>TCA384902781ACVRL1c.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)
12g.51916169G>ACA479811147ACVRL1c.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
12g.51916169G>CCA384902785ACVRL1c.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)
12g.51916169G>TCA384902788ACVRL1c.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)
12g.51916170T>ACA384902793ACVRL1c.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)
12g.51916170T>CCA384902794ACVRL1c.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
12g.51916170T>GCA384902796ACVRL1c.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)
12g.51916170T=CA2036237059ACVRL1c.913T= (p.Trp305=)
c.1183T= (p.Trp395=)
c.661T= (p.Trp221=)
n.458T=
c.1225T= (p.Trp409=)
c.188T=
c.394T= (p.Trp132=)
12g.51916171G>ACA384902804ACVRL1c.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)
12g.51916171G>CCA384902807ACVRL1c.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)
12g.51916171G>TCA384902816ACVRL1c.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)
12g.51916172G>ACA384902820ACVRL1c.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)
12g.51916172G>CCA384902825ACVRL1c.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)
12g.51916172G>TCA384902827ACVRL1c.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)
12g.51916173A>CCA384902836ACVRL1c.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)
12g.51916173A>GCA384902835ACVRL1c.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
12g.51916173A>TCA384902831ACVRL1c.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)
12g.51916174C>ACA384902838ACVRL1c.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)
12g.51916174C=CA2036237061ACVRL1c.917C= (p.Thr306=)
c.1187C= (p.Thr396=)
c.665C= (p.Thr222=)
n.462C=
c.1229C= (p.Thr410=)
c.192C=
c.398C= (p.Thr133=)
12g.51916174C>GCA384902842ACVRL1c.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)
12g.51916174C>TCA6573085ACVRL1c.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
12g.51916175T>ACA479811191ACVRL1c.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=)
12g.51916175T>CCA479811194ACVRL1c.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
12g.51916175T>GCA479811202ACVRL1c.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=)
12g.51916175T=CA2036237065ACVRL1c.918T= (p.Thr306=)
c.1188T= (p.Thr396=)
c.666T= (p.Thr222=)
n.463T=
c.1230T= (p.Thr410=)
c.193T=
c.399T= (p.Thr133=)
12g.51916175_51916176delinsAACA915948526ACVRL1c.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
12g.51916175_51916176delinsTGCA2036237067ACVRL1c.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=)
12g.51916176G>ACA384902844ACVRL1c.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
12g.51916176G>CCA384902853ACVRL1c.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)
12g.51916176G=CA2036237072ACVRL1c.919G= (p.Asp307=)
c.1189G= (p.Asp397=)
c.667G= (p.Asp223=)
n.464G=
c.1231G= (p.Asp411=)
c.194G=
c.400G= (p.Asp134=)
12g.51916176G>TCA384902851ACVRL1c.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)
12g.51916177A=CA2036237079ACVRL1c.920A= (p.Asp307=)
c.1190A= (p.Asp397=)
c.668A= (p.Asp223=)
n.465A=
c.1232A= (p.Asp411=)
c.195A=
c.401A= (p.Asp134=)
12g.51916177A>CCA384902855ACVRL1c.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)
12g.51916177A>GCA384902858ACVRL1c.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)
12g.51916177A>TCA384902866ACVRL1c.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
12g.51916178C>ACA384902867ACVRL1c.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)
12g.51916178C=CA2036237083ACVRL1c.921C= (p.Asp307=)
c.1191C= (p.Asp397=)
c.669C= (p.Asp223=)
n.466C=
c.1233C= (p.Asp411=)
c.196C=
c.402C= (p.Asp134=)
12g.51916178C>GCA384902868ACVRL1c.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)
12g.51916178C>TCA479811236ACVRL1c.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
12g.51916179A=CA2036237085ACVRL1c.922A= (p.Ile308=)
c.1192A= (p.Ile398=)
c.670A= (p.Ile224=)
n.467A=
c.1234A= (p.Ile412=)
c.197A=
c.403A= (p.Ile135=)
12g.51916179A>CCA6573086ACVRL1c.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
12g.51916179A>GCA6573087ACVRL1c.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
12g.51916179A>TCA384902870ACVRL1c.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
12g.51916180T>ACA254377ACVRL1c.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
12g.51916180T>CCA384902873ACVRL1c.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)
12g.51916180T>GCA384902875ACVRL1c.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)
12g.51916180T=CA2036237090ACVRL1c.923T= (p.Ile308=)
c.1193T= (p.Ile398=)
c.671T= (p.Ile224=)
n.468T=
c.1235T= (p.Ile412=)
c.198T=
c.404T= (p.Ile135=)
12g.51916181C>ACA479811265ACVRL1c.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=)
12g.51916181C>GCA384902877ACVRL1c.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)
12g.51916181C>TCA479811272ACVRL1c.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=)
12g.51916182T>ACA384902879ACVRL1c.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)
12g.51916182T>CCA384902882ACVRL1c.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
12g.51916182T>GCA384902880ACVRL1c.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
12g.51916182T=CA2036237096ACVRL1c.925T= (p.Trp309=)
c.1195T= (p.Trp399=)
c.673T= (p.Trp225=)
n.470T=
c.1237T= (p.Trp413=)
c.200T=
c.406T= (p.Trp136=)
12g.51916183G>ACA384902884ACVRL1c.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
12g.51916183G>CCA119410ACVRL1c.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
12g.51916183G=CA2036237105ACVRL1c.926G= (p.Trp309=)
c.1196G= (p.Trp399=)
c.674G= (p.Trp225=)
n.471G=
c.1238G= (p.Trp413=)
c.201G=
c.407G= (p.Trp136=)
12g.51916183G>TCA384902886ACVRL1c.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
12g.51916185delCA2580086500ACVRL1c.928del (p.Ala310ProfsTer15)
c.1198del (p.Ala400ProfsTer15)
c.676del (p.Ala226ProfsTer15)
n.473del
c.1240del (p.Ala414ProfsTer15)
c.203del
c.409del (p.Ala137ProfsTer15)
 ClinVar
12g.51916184G>ACA384902889ACVRL1c.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
12g.51916184G>CCA384902894ACVRL1c.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)
12g.51916184G=CA2036237110ACVRL1c.927G= (p.Trp309=)
c.1197G= (p.Trp399=)
c.675G= (p.Trp225=)
n.472G=
c.1239G= (p.Trp413=)
c.202G=
c.408G= (p.Trp136=)
12g.51916184G>TCA384902896ACVRL1c.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)
12g.51916185G>ACA384902898ACVRL1c.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
12g.51916185G>CCA384902900ACVRL1c.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
12g.51916185G>TCA384902902ACVRL1c.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)
12g.51916186C>ACA384902908ACVRL1c.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
12g.51916186C>GCA384902906ACVRL1c.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)
12g.51916186C>TCA384902904ACVRL1c.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
12g.51916187C>ACA479811380ACVRL1c.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=)
12g.51916187C>GCA479811384ACVRL1c.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=)
12g.51916187C>TCA479811387ACVRL1c.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
12g.51916188T>ACA384902909ACVRL1c.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)
12g.51916188T>CCA384902910ACVRL1c.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)
12g.51916188T>GCA384902911ACVRL1c.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)
12g.51916189T>ACA384902914ACVRL1c.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)
12g.51916189T>CCA384902915ACVRL1c.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)
12g.51916189T>GCA384902917ACVRL1c.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)
12g.51916190T>ACA384902919ACVRL1c.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)
12g.51916190T>CCA479811437ACVRL1c.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=)
12g.51916190T>GCA384902921ACVRL1c.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)

Number of alleles fetched