Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920759G>ACA236367666ACVRL1c.1108G>A (p.Val370Ile)
c.1378G>A (p.Val460Ile)
c.856G>A (p.Val286Ile)
c.1420G>A (p.Val474Ile)
c.589G>A (p.Val197Ile)
dbSNP gnomAD v4
12g.51920759G>CCA384905219ACVRL1c.1108G>C (p.Val370Leu)
c.1378G>C (p.Val460Leu)
c.856G>C (p.Val286Leu)
c.1420G>C (p.Val474Leu)
c.589G>C (p.Val197Leu)
12g.51920759G=CA2036241659ACVRL1c.1108G= (p.Val370=)
c.1378G= (p.Val460=)
c.856G= (p.Val286=)
c.1420G= (p.Val474=)
c.589G= (p.Val197=)
12g.51920759G>TCA384905220ACVRL1c.1108G>T (p.Val370Phe)
c.1378G>T (p.Val460Phe)
c.856G>T (p.Val286Phe)
c.1420G>T (p.Val474Phe)
c.589G>T (p.Val197Phe)
12g.51920760T>ACA384905221ACVRL1c.1109T>A (p.Val370Asp)
c.1379T>A (p.Val460Asp)
c.857T>A (p.Val286Asp)
c.1421T>A (p.Val474Asp)
c.590T>A (p.Val197Asp)
12g.51920760T>CCA384905223ACVRL1c.1109T>C (p.Val370Ala)
c.1379T>C (p.Val460Ala)
c.857T>C (p.Val286Ala)
c.1421T>C (p.Val474Ala)
c.590T>C (p.Val197Ala)
12g.51920760T>GCA384905226ACVRL1c.1109T>G (p.Val370Gly)
c.1379T>G (p.Val460Gly)
c.857T>G (p.Val286Gly)
c.1421T>G (p.Val474Gly)
c.590T>G (p.Val197Gly)
12g.51920761C>ACA479816167ACVRL1c.1110C>A (p.Val370=)
c.1380C>A (p.Val460=)
c.858C>A (p.Val286=)
c.1422C>A (p.Val474=)
c.591C>A (p.Val197=)
12g.51920761C>GCA479816171ACVRL1c.1110C>G (p.Val370=)
c.1380C>G (p.Val460=)
c.858C>G (p.Val286=)
c.1422C>G (p.Val474=)
c.591C>G (p.Val197=)
12g.51920761C>TCA479816178ACVRL1c.1110C>T (p.Val370=)
c.1380C>T (p.Val460=)
c.858C>T (p.Val286=)
c.1422C>T (p.Val474=)
c.591C>T (p.Val197=)
COSMIC COSMIC
12g.51920762dupCA2573148789ACVRL1c.1111dup (p.Leu371ProfsTer?)
c.1381dup (p.Leu461ProfsTer?)
c.859dup (p.Leu287ProfsTer?)
c.1423dup (p.Leu475ProfsTer?)
c.592dup (p.Leu198ProfsTer?)
ClinVar dbSNP
12g.51920762C>ACA384905234ACVRL1c.1111C>A (p.Leu371Ile)
c.1381C>A (p.Leu461Ile)
c.859C>A (p.Leu287Ile)
c.1423C>A (p.Leu475Ile)
c.592C>A (p.Leu198Ile)
12g.51920762C=CA2036241662ACVRL1c.1111C= (p.Leu371=)
c.1381C= (p.Leu461=)
c.859C= (p.Leu287=)
c.1423C= (p.Leu475=)
c.592C= (p.Leu198=)
12g.51920762C>GCA6573167ACVRL1c.1111C>G (p.Leu371Val)
c.1381C>G (p.Leu461Val)
c.859C>G (p.Leu287Val)
c.1423C>G (p.Leu475Val)
c.592C>G (p.Leu198Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.51920762C>TCA384905228ACVRL1c.1111C>T (p.Leu371Phe)
c.1381C>T (p.Leu461Phe)
c.859C>T (p.Leu287Phe)
c.1423C>T (p.Leu475Phe)
c.592C>T (p.Leu198Phe)
12g.51920763T>ACA384905251ACVRL1c.1112T>A (p.Leu371His)
c.1382T>A (p.Leu461His)
c.860T>A (p.Leu287His)
c.1424T>A (p.Leu475His)
c.593T>A (p.Leu198His)
12g.51920763T>CCA384905253ACVRL1c.1112T>C (p.Leu371Pro)
c.1382T>C (p.Leu461Pro)
c.860T>C (p.Leu287Pro)
c.1424T>C (p.Leu475Pro)
c.593T>C (p.Leu198Pro)
12g.51920763T>GCA384905255ACVRL1c.1112T>G (p.Leu371Arg)
c.1382T>G (p.Leu461Arg)
c.860T>G (p.Leu287Arg)
c.1424T>G (p.Leu475Arg)
c.593T>G (p.Leu198Arg)
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)

Number of alleles fetched