Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51920820_51920887del | CA2695216730 | ACVRL1 | c.1169_1236del (p.Leu390ProfsTer?) c.1439_1506del (p.Leu480ProfsTer?) c.917_984del (p.Leu306ProfsTer?) c.1481_1548del (p.Leu494ProfsTer?) c.650_717del (p.Leu217ProfsTer?) | |
12 | g.51920830_51920831delinsGC | CA2036241879 | ACVRL1 | c.1179_1180delinsGC (p.Leu393=) c.1449_1450delinsGC (p.Leu483=) c.927_928delinsGC (p.Leu309=) c.1491_1492delinsGC (p.Leu497=) c.660_661delinsGC (p.Leu220=) | |
12 | g.51920831_51920833dup | CA2695216732 | ACVRL1 | c.1180_1182dup (p.Arg394_Ile395insArg) c.1450_1452dup (p.Arg484_Ile485insArg) c.928_930dup (p.Arg310_Ile311insArg) c.1492_1494dup (p.Arg498_Ile499insArg) c.661_663dup (p.Arg221_Ile222insArg) | |
12 | g.51920831C>A | CA479816861 | ACVRL1 | c.1180C>A (p.Arg394=) c.1450C>A (p.Arg484=) c.928C>A (p.Arg310=) c.1492C>A (p.Arg498=) c.661C>A (p.Arg221=) | ClinVar dbSNP gnomAD v4 |
12 | g.51920831C= | CA2036241893 | ACVRL1 | c.1180C= (p.Arg394=) c.1450C= (p.Arg484=) c.928C= (p.Arg310=) c.1492C= (p.Arg498=) c.661C= (p.Arg221=) | |
12 | g.51920831C>G | CA384905800 | ACVRL1 | c.1180C>G (p.Arg394Gly) c.1450C>G (p.Arg484Gly) c.928C>G (p.Arg310Gly) c.1492C>G (p.Arg498Gly) c.661C>G (p.Arg221Gly) | ClinVar dbSNP |
12 | g.51920831C>T | CA119404 | ACVRL1 | c.1180C>T (p.Arg394Trp) c.1450C>T (p.Arg484Trp) c.928C>T (p.Arg310Trp) c.1492C>T (p.Arg498Trp) c.661C>T (p.Arg221Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51920831delinsTG | CA645294072 | ACVRL1 | c.1180delinsTG (p.Arg394TrpfsTer10) c.1450delinsTG (p.Arg484TrpfsTer10) c.928delinsTG (p.Arg310TrpfsTer10) c.1492delinsTG (p.Arg498TrpfsTer10) c.661delinsTG (p.Arg221TrpfsTer10) | ClinVar dbSNP |
12 | g.51920832G>A | CA323134 | ACVRL1 | c.1181G>A (p.Arg394Gln) c.1451G>A (p.Arg484Gln) c.929G>A (p.Arg310Gln) c.1493G>A (p.Arg498Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP |
12 | g.51920832G>C | CA384905812 | ACVRL1 | c.1181G>C (p.Arg394Pro) c.1451G>C (p.Arg484Pro) c.929G>C (p.Arg310Pro) c.1493G>C (p.Arg498Pro) c.662G>C (p.Arg221Pro) | ClinVar dbSNP |
12 | g.51920832G= | CA2036241910 | ACVRL1 | c.1181G= (p.Arg394=) c.1451G= (p.Arg484=) c.929G= (p.Arg310=) c.1493G= (p.Arg498=) c.662G= (p.Arg221=) | |
12 | g.51920832G>T | CA384905817 | ACVRL1 | c.1181G>T (p.Arg394Leu) c.1451G>T (p.Arg484Leu) c.929G>T (p.Arg310Leu) c.1493G>T (p.Arg498Leu) c.662G>T (p.Arg221Leu) | ClinVar dbSNP |
12 | g.51920833G>A | CA479816896 | ACVRL1 | c.1182G>A (p.Arg394=) c.1452G>A (p.Arg484=) c.930G>A (p.Arg310=) c.1494G>A (p.Arg498=) c.663G>A (p.Arg221=) | |
12 | g.51920833G>C | CA479816900 | ACVRL1 | c.1182G>C (p.Arg394=) c.1452G>C (p.Arg484=) c.930G>C (p.Arg310=) c.1494G>C (p.Arg498=) c.663G>C (p.Arg221=) | |
12 | g.51920833G>T | CA479816903 | ACVRL1 | c.1182G>T (p.Arg394=) c.1452G>T (p.Arg484=) c.930G>T (p.Arg310=) c.1494G>T (p.Arg498=) c.663G>T (p.Arg221=) | |
12 | g.51920834A= | CA2036241914 | ACVRL1 | c.1183A= (p.Ile395=) c.1453A= (p.Ile485=) c.931A= (p.Ile311=) c.1495A= (p.Ile499=) c.664A= (p.Ile222=) | |
12 | g.51920834A>C | CA384905820 | ACVRL1 | c.1183A>C (p.Ile395Leu) c.1453A>C (p.Ile485Leu) c.931A>C (p.Ile311Leu) c.1495A>C (p.Ile499Leu) c.664A>C (p.Ile222Leu) | |
12 | g.51920834A>G | CA384905830 | ACVRL1 | c.1183A>G (p.Ile395Val) c.1453A>G (p.Ile485Val) c.931A>G (p.Ile311Val) c.1495A>G (p.Ile499Val) c.664A>G (p.Ile222Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51920834A>T | CA384905831 | ACVRL1 | c.1183A>T (p.Ile395Phe) c.1453A>T (p.Ile485Phe) c.931A>T (p.Ile311Phe) c.1495A>T (p.Ile499Phe) c.664A>T (p.Ile222Phe) | |
12 | g.51920834dup | CA2695216734 | ACVRL1 | c.1183dup (p.Ile395AsnfsTer9) c.1453dup (p.Ile485AsnfsTer9) c.931dup (p.Ile311AsnfsTer9) c.1495dup (p.Ile499AsnfsTer9) c.664dup (p.Ile222AsnfsTer9) | |
12 | g.51920835T>A | CA384905835 | ACVRL1 | c.1184T>A (p.Ile395Asn) c.1454T>A (p.Ile485Asn) c.932T>A (p.Ile311Asn) c.1496T>A (p.Ile499Asn) c.665T>A (p.Ile222Asn) | |
12 | g.51920835T>C | CA384905843 | ACVRL1 | c.1184T>C (p.Ile395Thr) c.1454T>C (p.Ile485Thr) c.932T>C (p.Ile311Thr) c.1496T>C (p.Ile499Thr) c.665T>C (p.Ile222Thr) | |
12 | g.51920835T>G | CA384905841 | ACVRL1 | c.1184T>G (p.Ile395Ser) c.1454T>G (p.Ile485Ser) c.932T>G (p.Ile311Ser) c.1496T>G (p.Ile499Ser) c.665T>G (p.Ile222Ser) | |
12 | g.51920836C>A | CA479816923 | ACVRL1 | c.1185C>A (p.Ile395=) c.1455C>A (p.Ile485=) c.933C>A (p.Ile311=) c.1497C>A (p.Ile499=) c.666C>A (p.Ile222=) | gnomAD v4 |
12 | g.51920836C>G | CA384905846 | ACVRL1 | c.1185C>G (p.Ile395Met) c.1455C>G (p.Ile485Met) c.933C>G (p.Ile311Met) c.1497C>G (p.Ile499Met) c.666C>G (p.Ile222Met) | |
12 | g.51920836C>T | CA479816929 | ACVRL1 | c.1185C>T (p.Ile395=) c.1455C>T (p.Ile485=) c.933C>T (p.Ile311=) c.1497C>T (p.Ile499=) c.666C>T (p.Ile222=) | |
12 | g.51920836_51920839delinsCAAG | CA2036241918 | ACVRL1 | c.1185_1188delinsCAAG (p.Ile395=) c.1455_1458delinsCAAG (p.Ile485=) c.933_936delinsCAAG (p.Ile311=) c.1497_1500delinsCAAG (p.Ile499=) c.666_669delinsCAAG (p.Ile222=) | |
12 | g.51920837A= | CA2036241922 | ACVRL1 | c.1186A= (p.Lys396=) c.1456A= (p.Lys486=) c.934A= (p.Lys312=) c.1498A= (p.Lys500=) c.667A= (p.Lys223=) | |
12 | g.51920837A>C | CA384905848 | ACVRL1 | c.1186A>C (p.Lys396Gln) c.1456A>C (p.Lys486Gln) c.934A>C (p.Lys312Gln) c.1498A>C (p.Lys500Gln) c.667A>C (p.Lys223Gln) | |
12 | g.51920837A>G | CA236367781 | ACVRL1 | c.1186A>G (p.Lys396Glu) c.1456A>G (p.Lys486Glu) c.934A>G (p.Lys312Glu) c.1498A>G (p.Lys500Glu) c.667A>G (p.Lys223Glu) | ClinVar dbSNP |
12 | g.51920837A>T | CA384905872 | ACVRL1 | c.1186A>T (p.Lys396Ter) c.1456A>T (p.Lys486Ter) c.934A>T (p.Lys312Ter) c.1498A>T (p.Lys500Ter) c.667A>T (p.Lys223Ter) | |
12 | g.51920841_51920843del | CA2036241920 | ACVRL1 | c.1190_1192del (p.Lys397del) c.1460_1462del (p.Lys487del) c.938_940del (p.Lys313del) c.1502_1504del (p.Lys501del) c.671_673del (p.Lys224del) | dbSNP gnomAD v4 |
12 | g.51920838A>C | CA384905876 | ACVRL1 | c.1187A>C (p.Lys396Thr) c.1457A>C (p.Lys486Thr) c.935A>C (p.Lys312Thr) c.1499A>C (p.Lys500Thr) c.668A>C (p.Lys223Thr) | |
12 | g.51920838A>G | CA384905883 | ACVRL1 | c.1187A>G (p.Lys396Arg) c.1457A>G (p.Lys486Arg) c.935A>G (p.Lys312Arg) c.1499A>G (p.Lys500Arg) c.668A>G (p.Lys223Arg) | |
12 | g.51920838A>T | CA384905885 | ACVRL1 | c.1187A>T (p.Lys396Met) c.1457A>T (p.Lys486Met) c.935A>T (p.Lys312Met) c.1499A>T (p.Lys500Met) c.668A>T (p.Lys223Met) | |
12 | g.51920839G>A | CA479816953 | ACVRL1 | c.1188G>A (p.Lys396=) c.1458G>A (p.Lys486=) c.936G>A (p.Lys312=) c.1500G>A (p.Lys500=) c.669G>A (p.Lys223=) | |
12 | g.51920839G>C | CA384905888 | ACVRL1 | c.1188G>C (p.Lys396Asn) c.1458G>C (p.Lys486Asn) c.936G>C (p.Lys312Asn) c.1500G>C (p.Lys500Asn) c.669G>C (p.Lys223Asn) | |
12 | g.51920839G>T | CA384905890 | ACVRL1 | c.1188G>T (p.Lys396Asn) c.1458G>T (p.Lys486Asn) c.936G>T (p.Lys312Asn) c.1500G>T (p.Lys500Asn) c.669G>T (p.Lys223Asn) | |
12 | g.51920840A= | CA2036241927 | ACVRL1 | c.1189A= (p.Lys397=) c.1459A= (p.Lys487=) c.937A= (p.Lys313=) c.1501A= (p.Lys501=) c.670A= (p.Lys224=) | |
12 | g.51920840A>C | CA384905893 | ACVRL1 | c.1189A>C (p.Lys397Gln) c.1459A>C (p.Lys487Gln) c.937A>C (p.Lys313Gln) c.1501A>C (p.Lys501Gln) c.670A>C (p.Lys224Gln) | ClinVar dbSNP |
12 | g.51920840A>G | CA384905894 | ACVRL1 | c.1189A>G (p.Lys397Glu) c.1459A>G (p.Lys487Glu) c.937A>G (p.Lys313Glu) c.1501A>G (p.Lys501Glu) c.670A>G (p.Lys224Glu) | ClinVar dbSNP |
12 | g.51920840A>T | CA384905895 | ACVRL1 | c.1189A>T (p.Lys397Ter) c.1459A>T (p.Lys487Ter) c.937A>T (p.Lys313Ter) c.1501A>T (p.Lys501Ter) c.670A>T (p.Lys224Ter) | |
12 | g.51920841A= | CA2036241937 | ACVRL1 | c.1190A= (p.Lys397=) c.1460A= (p.Lys487=) c.938A= (p.Lys313=) c.1502A= (p.Lys501=) c.671A= (p.Lys224=) | |
12 | g.51920841A>C | CA384905912 | ACVRL1 | c.1190A>C (p.Lys397Thr) c.1460A>C (p.Lys487Thr) c.938A>C (p.Lys313Thr) c.1502A>C (p.Lys501Thr) c.671A>C (p.Lys224Thr) | ClinVar dbSNP |
12 | g.51920841A>G | CA384905897 | ACVRL1 | c.1190A>G (p.Lys397Arg) c.1460A>G (p.Lys487Arg) c.938A>G (p.Lys313Arg) c.1502A>G (p.Lys501Arg) c.671A>G (p.Lys224Arg) | |
12 | g.51920841A>T | CA384905896 | ACVRL1 | c.1190A>T (p.Lys397Met) c.1460A>T (p.Lys487Met) c.938A>T (p.Lys313Met) c.1502A>T (p.Lys501Met) c.671A>T (p.Lys224Met) | |
12 | g.51920842G>A | CA479816970 | ACVRL1 | c.1191G>A (p.Lys397=) c.1461G>A (p.Lys487=) c.939G>A (p.Lys313=) c.1503G>A (p.Lys501=) c.672G>A (p.Lys224=) | |
12 | g.51920842G>C | CA384905915 | ACVRL1 | c.1191G>C (p.Lys397Asn) c.1461G>C (p.Lys487Asn) c.939G>C (p.Lys313Asn) c.1503G>C (p.Lys501Asn) c.672G>C (p.Lys224Asn) | |
12 | g.51920842G>T | CA384905917 | ACVRL1 | c.1191G>T (p.Lys397Asn) c.1461G>T (p.Lys487Asn) c.939G>T (p.Lys313Asn) c.1503G>T (p.Lys501Asn) c.672G>T (p.Lys224Asn) | |
12 | g.51920843A>C | CA384905926 | ACVRL1 | c.1192A>C (p.Thr398Pro) c.1462A>C (p.Thr488Pro) c.940A>C (p.Thr314Pro) c.1504A>C (p.Thr502Pro) c.673A>C (p.Thr225Pro) |