| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920766C>A | CA384905266 | ACVRL1 | c.1385C>A (p.Ser462Ter) c.863C>A (p.Ser288Ter) c.1427C>A (p.Ser476Ter) c.1115C>A (p.Ser372Ter) c.596C>A (p.Ser199Ter) | |
| 12 | g.51920766C= | CA2036241665 | ACVRL1 | c.1385C= (p.Ser462=) c.863C= (p.Ser288=) c.1427C= (p.Ser476=) c.1115C= (p.Ser372=) c.596C= (p.Ser199=) | |
| 12 | g.51920766C>G | CA384905272 | ACVRL1 | c.1385C>G (p.Ser462Ter) c.863C>G (p.Ser288Ter) c.1427C>G (p.Ser476Ter) c.1115C>G (p.Ser372Ter) c.596C>G (p.Ser199Ter) | ClinVar COSMIC COSMIC |
| 12 | g.51920766C>T | CA384905270 | ACVRL1 | c.1385C>T (p.Ser462Leu) c.863C>T (p.Ser288Leu) c.1427C>T (p.Ser476Leu) c.1115C>T (p.Ser372Leu) c.596C>T (p.Ser199Leu) | |
| 12 | g.51920767A>C | CA479816242 | ACVRL1 | c.1386A>C (p.Ser462=) c.864A>C (p.Ser288=) c.1428A>C (p.Ser476=) c.1116A>C (p.Ser372=) c.597A>C (p.Ser199=) | |
| 12 | g.51920767A>G | CA479816245 | ACVRL1 | c.1386A>G (p.Ser462=) c.864A>G (p.Ser288=) c.1428A>G (p.Ser476=) c.1116A>G (p.Ser372=) c.597A>G (p.Ser199=) | |
| 12 | g.51920767A>T | CA479816246 | ACVRL1 | c.1386A>T (p.Ser462=) c.864A>T (p.Ser288=) c.1428A>T (p.Ser476=) c.1116A>T (p.Ser372=) c.597A>T (p.Ser199=) | |
| 12 | g.51920767_51920768delinsAG | CA2036241672 | ACVRL1 | c.1386_1387delinsAG (p.Ser462=) c.864_865delinsAG (p.Ser288=) c.1428_1429delinsAG (p.Ser476=) c.1116_1117delinsAG (p.Ser372=) c.597_598delinsAG (p.Ser199=) | |
| 12 | g.51920768G>A | CA6573168 | ACVRL1 | c.1387G>A (p.Gly463Ser) c.865G>A (p.Gly289Ser) c.1429G>A (p.Gly477Ser) c.1117G>A (p.Gly373Ser) c.598G>A (p.Gly200Ser) | dbSNP ExAC gnomAD |
| 12 | g.51920768G>C | CA384905275 | ACVRL1 | c.1387G>C (p.Gly463Arg) c.865G>C (p.Gly289Arg) c.1429G>C (p.Gly477Arg) c.1117G>C (p.Gly373Arg) c.598G>C (p.Gly200Arg) | |
| 12 | g.51920768G= | CA2036241679 | ACVRL1 | c.1387G= (p.Gly463=) c.865G= (p.Gly289=) c.1429G= (p.Gly477=) c.1117G= (p.Gly373=) c.598G= (p.Gly200=) | |
| 12 | g.51920768G>T | CA384905277 | ACVRL1 | c.1387G>T (p.Gly463Cys) c.865G>T (p.Gly289Cys) c.1429G>T (p.Gly477Cys) c.1117G>T (p.Gly373Cys) c.598G>T (p.Gly200Cys) | |
| 12 | g.51920769del | CA645294070 | ACVRL1 | c.1388del (p.Gly463AlafsTer2) c.866del (p.Gly289AlafsTer2) c.1430del (p.Gly477AlafsTer2) c.1118del (p.Gly373AlafsTer2) c.599del (p.Gly200AlafsTer2) | ClinVar dbSNP |
| 12 | g.51920769G>A | CA384905278 | ACVRL1 | c.1388G>A (p.Gly463Asp) c.866G>A (p.Gly289Asp) c.1430G>A (p.Gly477Asp) c.1118G>A (p.Gly373Asp) c.599G>A (p.Gly200Asp) | |
| 12 | g.51920769G>C | CA384905280 | ACVRL1 | c.1388G>C (p.Gly463Ala) c.866G>C (p.Gly289Ala) c.1430G>C (p.Gly477Ala) c.1118G>C (p.Gly373Ala) c.599G>C (p.Gly200Ala) | |
| 12 | g.51920769G>T | CA384905283 | ACVRL1 | c.1388G>T (p.Gly463Val) c.866G>T (p.Gly289Val) c.1430G>T (p.Gly477Val) c.1118G>T (p.Gly373Val) c.599G>T (p.Gly200Val) | |
| 12 | g.51920769_51920770delinsGC | CA2036241682 | ACVRL1 | c.1388_1389delinsGC (p.Gly463=) c.866_867delinsGC (p.Gly289=) c.1430_1431delinsGC (p.Gly477=) c.1118_1119delinsGC (p.Gly373=) c.599_600delinsGC (p.Gly200=) | |
| 12 | g.51920770C>A | CA479816269 | ACVRL1 | c.1389C>A (p.Gly463=) c.867C>A (p.Gly289=) c.1431C>A (p.Gly477=) c.1119C>A (p.Gly373=) c.600C>A (p.Gly200=) | |
| 12 | g.51920770C>G | CA479816273 | ACVRL1 | c.1389C>G (p.Gly463=) c.867C>G (p.Gly289=) c.1431C>G (p.Gly477=) c.1119C>G (p.Gly373=) c.600C>G (p.Gly200=) | |
| 12 | g.51920770C>T | CA479816274 | ACVRL1 | c.1389C>T (p.Gly463=) c.867C>T (p.Gly289=) c.1431C>T (p.Gly477=) c.1119C>T (p.Gly373=) c.600C>T (p.Gly200=) | COSMIC COSMIC |
| 12 | g.51920771del | CA645294071 | ACVRL1 | c.1390del (p.Leu464Ter) c.868del (p.Leu290Ter) c.1432del (p.Leu478Ter) c.1120del (p.Leu374Ter) c.601del (p.Leu201Ter) | ClinVar dbSNP |
| 12 | g.51920771C>A | CA384905286 | ACVRL1 | c.1390C>A (p.Leu464Ile) c.868C>A (p.Leu290Ile) c.1432C>A (p.Leu478Ile) c.1120C>A (p.Leu374Ile) c.601C>A (p.Leu201Ile) | |
| 12 | g.51920771C= | CA2036241692 | ACVRL1 | c.1390C= (p.Leu464=) c.868C= (p.Leu290=) c.1432C= (p.Leu478=) c.1120C= (p.Leu374=) c.601C= (p.Leu201=) | |
| 12 | g.51920771C>G | CA384905288 | ACVRL1 | c.1390C>G (p.Leu464Val) c.868C>G (p.Leu290Val) c.1432C>G (p.Leu478Val) c.1120C>G (p.Leu374Val) c.601C>G (p.Leu201Val) | |
| 12 | g.51920771C>T | CA479816278 | ACVRL1 | c.1390C>T (p.Leu464=) c.868C>T (p.Leu290=) c.1432C>T (p.Leu478=) c.1120C>T (p.Leu374=) c.601C>T (p.Leu201=) | |
| 12 | g.51920772T>A | CA384905295 | ACVRL1 | c.1391T>A (p.Leu464Gln) c.869T>A (p.Leu290Gln) c.1433T>A (p.Leu478Gln) c.1121T>A (p.Leu374Gln) c.602T>A (p.Leu201Gln) | |
| 12 | g.51920772T>C | CA384905297 | ACVRL1 | c.1391T>C (p.Leu464Pro) c.869T>C (p.Leu290Pro) c.1433T>C (p.Leu478Pro) c.1121T>C (p.Leu374Pro) c.602T>C (p.Leu201Pro) | |
| 12 | g.51920772T>G | CA384905301 | ACVRL1 | c.1391T>G (p.Leu464Arg) c.869T>G (p.Leu290Arg) c.1433T>G (p.Leu478Arg) c.1121T>G (p.Leu374Arg) c.602T>G (p.Leu201Arg) | |
| 12 | g.51920773A>C | CA479816280 | ACVRL1 | c.1392A>C (p.Leu464=) c.870A>C (p.Leu290=) c.1434A>C (p.Leu478=) c.1122A>C (p.Leu374=) c.603A>C (p.Leu201=) | |
| 12 | g.51920773A>G | CA479816286 | ACVRL1 | c.1392A>G (p.Leu464=) c.870A>G (p.Leu290=) c.1434A>G (p.Leu478=) c.1122A>G (p.Leu374=) c.603A>G (p.Leu201=) | |
| 12 | g.51920773A>T | CA479816284 | ACVRL1 | c.1392A>T (p.Leu464=) c.870A>T (p.Leu290=) c.1434A>T (p.Leu478=) c.1122A>T (p.Leu374=) c.603A>T (p.Leu201=) | |
| 12 | g.51920774G>A | CA384905303 | ACVRL1 | c.1393G>A (p.Ala465Thr) c.871G>A (p.Ala291Thr) c.1435G>A (p.Ala479Thr) c.1123G>A (p.Ala375Thr) c.604G>A (p.Ala202Thr) | |
| 12 | g.51920774G>C | CA384905310 | ACVRL1 | c.1393G>C (p.Ala465Pro) c.871G>C (p.Ala291Pro) c.1435G>C (p.Ala479Pro) c.1123G>C (p.Ala375Pro) c.604G>C (p.Ala202Pro) | |
| 12 | g.51920774G>T | CA384905307 | ACVRL1 | c.1393G>T (p.Ala465Ser) c.871G>T (p.Ala291Ser) c.1435G>T (p.Ala479Ser) c.1123G>T (p.Ala375Ser) c.604G>T (p.Ala202Ser) | |
| 12 | g.51920775C>A | CA384905313 | ACVRL1 | c.1394C>A (p.Ala465Asp) c.872C>A (p.Ala291Asp) c.1436C>A (p.Ala479Asp) c.1124C>A (p.Ala375Asp) c.605C>A (p.Ala202Asp) | |
| 12 | g.51920775C>G | CA384905318 | ACVRL1 | c.1394C>G (p.Ala465Gly) c.872C>G (p.Ala291Gly) c.1436C>G (p.Ala479Gly) c.1124C>G (p.Ala375Gly) c.605C>G (p.Ala202Gly) | |
| 12 | g.51920775C>T | CA384905324 | ACVRL1 | c.1394C>T (p.Ala465Val) c.872C>T (p.Ala291Val) c.1436C>T (p.Ala479Val) c.1124C>T (p.Ala375Val) c.605C>T (p.Ala202Val) | |
| 12 | g.51920776T>A | CA479816313 | ACVRL1 | c.1395T>A (p.Ala465=) c.873T>A (p.Ala291=) c.1437T>A (p.Ala479=) c.1125T>A (p.Ala375=) c.606T>A (p.Ala202=) | |
| 12 | g.51920776T>C | CA479816317 | ACVRL1 | c.1395T>C (p.Ala465=) c.873T>C (p.Ala291=) c.1437T>C (p.Ala479=) c.1125T>C (p.Ala375=) c.606T>C (p.Ala202=) | |
| 12 | g.51920776T>G | CA479816322 | ACVRL1 | c.1395T>G (p.Ala465=) c.873T>G (p.Ala291=) c.1437T>G (p.Ala479=) c.1125T>G (p.Ala375=) c.606T>G (p.Ala202=) | |
| 12 | g.51920777C>A | CA384905327 | ACVRL1 | c.1396C>A (p.Gln466Lys) c.874C>A (p.Gln292Lys) c.1438C>A (p.Gln480Lys) c.1126C>A (p.Gln376Lys) c.607C>A (p.Gln203Lys) | |
| 12 | g.51920777C>G | CA384905329 | ACVRL1 | c.1396C>G (p.Gln466Glu) c.874C>G (p.Gln292Glu) c.1438C>G (p.Gln480Glu) c.1126C>G (p.Gln376Glu) c.607C>G (p.Gln203Glu) | |
| 12 | g.51920777C>T | CA384905331 | ACVRL1 | c.1396C>T (p.Gln466Ter) c.874C>T (p.Gln292Ter) c.1438C>T (p.Gln480Ter) c.1126C>T (p.Gln376Ter) c.607C>T (p.Gln203Ter) | |
| 12 | g.51920778A>C | CA384905339 | ACVRL1 | c.1397A>C (p.Gln466Pro) c.875A>C (p.Gln292Pro) c.1439A>C (p.Gln480Pro) c.1127A>C (p.Gln376Pro) c.608A>C (p.Gln203Pro) | |
| 12 | g.51920778A>G | CA384905340 | ACVRL1 | c.1397A>G (p.Gln466Arg) c.875A>G (p.Gln292Arg) c.1439A>G (p.Gln480Arg) c.1127A>G (p.Gln376Arg) c.608A>G (p.Gln203Arg) | |
| 12 | g.51920778A>T | CA384905341 | ACVRL1 | c.1397A>T (p.Gln466Leu) c.875A>T (p.Gln292Leu) c.1439A>T (p.Gln480Leu) c.1127A>T (p.Gln376Leu) c.608A>T (p.Gln203Leu) | |
| 12 | g.51920779_51920780del | CA2580086438 | ACVRL1 | c.1398_1399del (p.Gln466HisfsTer27) c.876_877del (p.Gln292HisfsTer27) c.1440_1441del (p.Gln480HisfsTer27) c.1128_1129del (p.Gln376HisfsTer27) c.609_610del (p.Gln203HisfsTer27) | ClinVar |
| 12 | g.51920779G>A | CA479816341 | ACVRL1 | c.1398G>A (p.Gln466=) c.876G>A (p.Gln292=) c.1440G>A (p.Gln480=) c.1128G>A (p.Gln376=) c.609G>A (p.Gln203=) | |
| 12 | g.51920779G>C | CA384905342 | ACVRL1 | c.1398G>C (p.Gln466His) c.876G>C (p.Gln292His) c.1440G>C (p.Gln480His) c.1128G>C (p.Gln376His) c.609G>C (p.Gln203His) | |
| 12 | g.51920779G>T | CA384905343 | ACVRL1 | c.1398G>T (p.Gln466His) c.876G>T (p.Gln292His) c.1440G>T (p.Gln480His) c.1128G>T (p.Gln376His) c.609G>T (p.Gln203His) |