Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920764C>ACA479816212ACVRL1c.1113C>A (p.Leu371=)
c.1383C>A (p.Leu461=)
c.861C>A (p.Leu287=)
c.1425C>A (p.Leu475=)
c.594C>A (p.Leu198=)
12g.51920764C>GCA479816216ACVRL1c.1113C>G (p.Leu371=)
c.1383C>G (p.Leu461=)
c.861C>G (p.Leu287=)
c.1425C>G (p.Leu475=)
c.594C>G (p.Leu198=)
12g.51920764C>TCA479816220ACVRL1c.1113C>T (p.Leu371=)
c.1383C>T (p.Leu461=)
c.861C>T (p.Leu287=)
c.1425C>T (p.Leu475=)
c.594C>T (p.Leu198=)
12g.51920765T>ACA384905258ACVRL1c.1114T>A (p.Ser372Thr)
c.1384T>A (p.Ser462Thr)
c.862T>A (p.Ser288Thr)
c.1426T>A (p.Ser476Thr)
c.595T>A (p.Ser199Thr)
12g.51920765T>CCA384905260ACVRL1c.1114T>C (p.Ser372Pro)
c.1384T>C (p.Ser462Pro)
c.862T>C (p.Ser288Pro)
c.1426T>C (p.Ser476Pro)
c.595T>C (p.Ser199Pro)
12g.51920765T>GCA384905263ACVRL1c.1114T>G (p.Ser372Ala)
c.1384T>G (p.Ser462Ala)
c.862T>G (p.Ser288Ala)
c.1426T>G (p.Ser476Ala)
c.595T>G (p.Ser199Ala)
12g.51920766C>ACA384905266ACVRL1c.1115C>A (p.Ser372Ter)
c.1385C>A (p.Ser462Ter)
c.863C>A (p.Ser288Ter)
c.1427C>A (p.Ser476Ter)
c.596C>A (p.Ser199Ter)
12g.51920766C=CA2036241665ACVRL1c.1115C= (p.Ser372=)
c.1385C= (p.Ser462=)
c.863C= (p.Ser288=)
c.1427C= (p.Ser476=)
c.596C= (p.Ser199=)
12g.51920766C>GCA384905272ACVRL1c.1115C>G (p.Ser372Ter)
c.1385C>G (p.Ser462Ter)
c.863C>G (p.Ser288Ter)
c.1427C>G (p.Ser476Ter)
c.596C>G (p.Ser199Ter)
ClinVar dbSNP COSMIC COSMIC
12g.51920766C>TCA384905270ACVRL1c.1115C>T (p.Ser372Leu)
c.1385C>T (p.Ser462Leu)
c.863C>T (p.Ser288Leu)
c.1427C>T (p.Ser476Leu)
c.596C>T (p.Ser199Leu)
12g.51920767A>CCA479816242ACVRL1c.1116A>C (p.Ser372=)
c.1386A>C (p.Ser462=)
c.864A>C (p.Ser288=)
c.1428A>C (p.Ser476=)
c.597A>C (p.Ser199=)
12g.51920767A>GCA479816245ACVRL1c.1116A>G (p.Ser372=)
c.1386A>G (p.Ser462=)
c.864A>G (p.Ser288=)
c.1428A>G (p.Ser476=)
c.597A>G (p.Ser199=)
12g.51920767A>TCA479816246ACVRL1c.1116A>T (p.Ser372=)
c.1386A>T (p.Ser462=)
c.864A>T (p.Ser288=)
c.1428A>T (p.Ser476=)
c.597A>T (p.Ser199=)
12g.51920767_51920768delinsAGCA2036241672ACVRL1c.1116_1117delinsAG (p.Ser372=)
c.1386_1387delinsAG (p.Ser462=)
c.864_865delinsAG (p.Ser288=)
c.1428_1429delinsAG (p.Ser476=)
c.597_598delinsAG (p.Ser199=)
12g.51920768G>ACA6573168ACVRL1c.1117G>A (p.Gly373Ser)
c.1387G>A (p.Gly463Ser)
c.865G>A (p.Gly289Ser)
c.1429G>A (p.Gly477Ser)
c.598G>A (p.Gly200Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920768G>CCA384905275ACVRL1c.1117G>C (p.Gly373Arg)
c.1387G>C (p.Gly463Arg)
c.865G>C (p.Gly289Arg)
c.1429G>C (p.Gly477Arg)
c.598G>C (p.Gly200Arg)
12g.51920768G=CA2036241679ACVRL1c.1117G= (p.Gly373=)
c.1387G= (p.Gly463=)
c.865G= (p.Gly289=)
c.1429G= (p.Gly477=)
c.598G= (p.Gly200=)
12g.51920768G>TCA384905277ACVRL1c.1117G>T (p.Gly373Cys)
c.1387G>T (p.Gly463Cys)
c.865G>T (p.Gly289Cys)
c.1429G>T (p.Gly477Cys)
c.598G>T (p.Gly200Cys)
12g.51920769delCA645294070ACVRL1c.1118del (p.Gly373AlafsTer2)
c.1388del (p.Gly463AlafsTer2)
c.866del (p.Gly289AlafsTer2)
c.1430del (p.Gly477AlafsTer2)
c.599del (p.Gly200AlafsTer2)
ClinVar dbSNP
12g.51920769G>ACA384905278ACVRL1c.1118G>A (p.Gly373Asp)
c.1388G>A (p.Gly463Asp)
c.866G>A (p.Gly289Asp)
c.1430G>A (p.Gly477Asp)
c.599G>A (p.Gly200Asp)
12g.51920769G>CCA384905280ACVRL1c.1118G>C (p.Gly373Ala)
c.1388G>C (p.Gly463Ala)
c.866G>C (p.Gly289Ala)
c.1430G>C (p.Gly477Ala)
c.599G>C (p.Gly200Ala)
12g.51920769G>TCA384905283ACVRL1c.1118G>T (p.Gly373Val)
c.1388G>T (p.Gly463Val)
c.866G>T (p.Gly289Val)
c.1430G>T (p.Gly477Val)
c.599G>T (p.Gly200Val)
12g.51920769_51920770delinsGCCA2036241682ACVRL1c.1118_1119delinsGC (p.Gly373=)
c.1388_1389delinsGC (p.Gly463=)
c.866_867delinsGC (p.Gly289=)
c.1430_1431delinsGC (p.Gly477=)
c.599_600delinsGC (p.Gly200=)
12g.51920770C>ACA479816269ACVRL1c.1119C>A (p.Gly373=)
c.1389C>A (p.Gly463=)
c.867C>A (p.Gly289=)
c.1431C>A (p.Gly477=)
c.600C>A (p.Gly200=)
12g.51920770C>GCA479816273ACVRL1c.1119C>G (p.Gly373=)
c.1389C>G (p.Gly463=)
c.867C>G (p.Gly289=)
c.1431C>G (p.Gly477=)
c.600C>G (p.Gly200=)
12g.51920770C>TCA479816274ACVRL1c.1119C>T (p.Gly373=)
c.1389C>T (p.Gly463=)
c.867C>T (p.Gly289=)
c.1431C>T (p.Gly477=)
c.600C>T (p.Gly200=)
gnomAD v4 COSMIC COSMIC
12g.51920771delCA645294071ACVRL1c.1120del (p.Leu374Ter)
c.1390del (p.Leu464Ter)
c.868del (p.Leu290Ter)
c.1432del (p.Leu478Ter)
c.601del (p.Leu201Ter)
ClinVar dbSNP
12g.51920771C>ACA384905286ACVRL1c.1120C>A (p.Leu374Ile)
c.1390C>A (p.Leu464Ile)
c.868C>A (p.Leu290Ile)
c.1432C>A (p.Leu478Ile)
c.601C>A (p.Leu201Ile)
12g.51920771C=CA2036241692ACVRL1c.1120C= (p.Leu374=)
c.1390C= (p.Leu464=)
c.868C= (p.Leu290=)
c.1432C= (p.Leu478=)
c.601C= (p.Leu201=)
12g.51920771C>GCA384905288ACVRL1c.1120C>G (p.Leu374Val)
c.1390C>G (p.Leu464Val)
c.868C>G (p.Leu290Val)
c.1432C>G (p.Leu478Val)
c.601C>G (p.Leu201Val)
12g.51920771C>TCA479816278ACVRL1c.1120C>T (p.Leu374=)
c.1390C>T (p.Leu464=)
c.868C>T (p.Leu290=)
c.1432C>T (p.Leu478=)
c.601C>T (p.Leu201=)
dbSNP
12g.51920772T>ACA384905295ACVRL1c.1121T>A (p.Leu374Gln)
c.1391T>A (p.Leu464Gln)
c.869T>A (p.Leu290Gln)
c.1433T>A (p.Leu478Gln)
c.602T>A (p.Leu201Gln)
12g.51920772T>CCA384905297ACVRL1c.1121T>C (p.Leu374Pro)
c.1391T>C (p.Leu464Pro)
c.869T>C (p.Leu290Pro)
c.1433T>C (p.Leu478Pro)
c.602T>C (p.Leu201Pro)
12g.51920772T>GCA384905301ACVRL1c.1121T>G (p.Leu374Arg)
c.1391T>G (p.Leu464Arg)
c.869T>G (p.Leu290Arg)
c.1433T>G (p.Leu478Arg)
c.602T>G (p.Leu201Arg)
12g.51920773A>CCA479816280ACVRL1c.1122A>C (p.Leu374=)
c.1392A>C (p.Leu464=)
c.870A>C (p.Leu290=)
c.1434A>C (p.Leu478=)
c.603A>C (p.Leu201=)
12g.51920773A>GCA479816286ACVRL1c.1122A>G (p.Leu374=)
c.1392A>G (p.Leu464=)
c.870A>G (p.Leu290=)
c.1434A>G (p.Leu478=)
c.603A>G (p.Leu201=)
12g.51920773A>TCA479816284ACVRL1c.1122A>T (p.Leu374=)
c.1392A>T (p.Leu464=)
c.870A>T (p.Leu290=)
c.1434A>T (p.Leu478=)
c.603A>T (p.Leu201=)
12g.51920774G>ACA384905303ACVRL1c.1123G>A (p.Ala375Thr)
c.1393G>A (p.Ala465Thr)
c.871G>A (p.Ala291Thr)
c.1435G>A (p.Ala479Thr)
c.604G>A (p.Ala202Thr)
12g.51920774G>CCA384905310ACVRL1c.1123G>C (p.Ala375Pro)
c.1393G>C (p.Ala465Pro)
c.871G>C (p.Ala291Pro)
c.1435G>C (p.Ala479Pro)
c.604G>C (p.Ala202Pro)
12g.51920774G>TCA384905307ACVRL1c.1123G>T (p.Ala375Ser)
c.1393G>T (p.Ala465Ser)
c.871G>T (p.Ala291Ser)
c.1435G>T (p.Ala479Ser)
c.604G>T (p.Ala202Ser)
gnomAD v4
12g.51920775C>ACA384905313ACVRL1c.1124C>A (p.Ala375Asp)
c.1394C>A (p.Ala465Asp)
c.872C>A (p.Ala291Asp)
c.1436C>A (p.Ala479Asp)
c.605C>A (p.Ala202Asp)
12g.51920775C>GCA384905318ACVRL1c.1124C>G (p.Ala375Gly)
c.1394C>G (p.Ala465Gly)
c.872C>G (p.Ala291Gly)
c.1436C>G (p.Ala479Gly)
c.605C>G (p.Ala202Gly)
12g.51920775C>TCA384905324ACVRL1c.1124C>T (p.Ala375Val)
c.1394C>T (p.Ala465Val)
c.872C>T (p.Ala291Val)
c.1436C>T (p.Ala479Val)
c.605C>T (p.Ala202Val)
gnomAD v4
12g.51920776T>ACA479816313ACVRL1c.1125T>A (p.Ala375=)
c.1395T>A (p.Ala465=)
c.873T>A (p.Ala291=)
c.1437T>A (p.Ala479=)
c.606T>A (p.Ala202=)
12g.51920776T>CCA479816317ACVRL1c.1125T>C (p.Ala375=)
c.1395T>C (p.Ala465=)
c.873T>C (p.Ala291=)
c.1437T>C (p.Ala479=)
c.606T>C (p.Ala202=)
12g.51920776T>GCA479816322ACVRL1c.1125T>G (p.Ala375=)
c.1395T>G (p.Ala465=)
c.873T>G (p.Ala291=)
c.1437T>G (p.Ala479=)
c.606T>G (p.Ala202=)
12g.51920777C>ACA384905327ACVRL1c.1126C>A (p.Gln376Lys)
c.1396C>A (p.Gln466Lys)
c.874C>A (p.Gln292Lys)
c.1438C>A (p.Gln480Lys)
c.607C>A (p.Gln203Lys)
12g.51920777C>GCA384905329ACVRL1c.1126C>G (p.Gln376Glu)
c.1396C>G (p.Gln466Glu)
c.874C>G (p.Gln292Glu)
c.1438C>G (p.Gln480Glu)
c.607C>G (p.Gln203Glu)
12g.51920777C>TCA384905331ACVRL1c.1126C>T (p.Gln376Ter)
c.1396C>T (p.Gln466Ter)
c.874C>T (p.Gln292Ter)
c.1438C>T (p.Gln480Ter)
c.607C>T (p.Gln203Ter)
12g.51920778A>CCA384905339ACVRL1c.1127A>C (p.Gln376Pro)
c.1397A>C (p.Gln466Pro)
c.875A>C (p.Gln292Pro)
c.1439A>C (p.Gln480Pro)
c.608A>C (p.Gln203Pro)

Number of alleles fetched