| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920757A>C | CA384905208 | ACVRL1 | c.1378-2A>C (n.1378-2A>C) c.856-2A>C (n.856-2A>C) c.1420-2A>C (n.1420-2A>C) c.1108-2A>C (n.1108-2A>C) c.589-2A>C (n.589-2A>C) | |
| 12 | g.51920757A>G | CA384905210 | ACVRL1 | c.1378-2A>G (n.1378-2A>G) c.856-2A>G (n.856-2A>G) c.1420-2A>G (n.1420-2A>G) c.1108-2A>G (n.1108-2A>G) c.589-2A>G (n.589-2A>G) | ClinVar |
| 12 | g.51920757A>T | CA384905213 | ACVRL1 | c.1378-2A>T (n.1378-2A>T) c.856-2A>T (n.856-2A>T) c.1420-2A>T (n.1420-2A>T) c.1108-2A>T (n.1108-2A>T) c.589-2A>T (n.589-2A>T) | |
| 12 | g.51920758G>A | CA16613756 | ACVRL1 | c.1378-1G>A (n.1378-1G>A) c.856-1G>A (n.856-1G>A) c.1420-1G>A (n.1420-1G>A) c.1108-1G>A (n.1108-1G>A) c.589-1G>A (n.589-1G>A) | ClinVar COSMIC COSMIC |
| 12 | g.51920758G>C | CA384905218 | ACVRL1 | c.1378-1G>C (n.1378-1G>C) c.856-1G>C (n.856-1G>C) c.1420-1G>C (n.1420-1G>C) c.1108-1G>C (n.1108-1G>C) c.589-1G>C (n.589-1G>C) | |
| 12 | g.51920758G= | CA2036241653 | ACVRL1 | c.1378-1G= (n.1378-1G=) c.856-1G= (n.856-1G=) c.1420-1G= (n.1420-1G=) c.1108-1G= (n.1108-1G=) c.589-1G= (n.589-1G=) | |
| 12 | g.51920758G>T | CA384905215 | ACVRL1 | c.1378-1G>T (n.1378-1G>T) c.856-1G>T (n.856-1G>T) c.1420-1G>T (n.1420-1G>T) c.1108-1G>T (n.1108-1G>T) c.589-1G>T (n.589-1G>T) | |
| 12 | g.51920759G>A | CA236367666 | ACVRL1 | c.1378G>A (p.Val460Ile) c.856G>A (p.Val286Ile) c.1420G>A (p.Val474Ile) c.1108G>A (p.Val370Ile) c.589G>A (p.Val197Ile) | dbSNP |
| 12 | g.51920759G>C | CA384905219 | ACVRL1 | c.1378G>C (p.Val460Leu) c.856G>C (p.Val286Leu) c.1420G>C (p.Val474Leu) c.1108G>C (p.Val370Leu) c.589G>C (p.Val197Leu) | |
| 12 | g.51920759G= | CA2036241659 | ACVRL1 | c.1378G= (p.Val460=) c.856G= (p.Val286=) c.1420G= (p.Val474=) c.1108G= (p.Val370=) c.589G= (p.Val197=) | |
| 12 | g.51920759G>T | CA384905220 | ACVRL1 | c.1378G>T (p.Val460Phe) c.856G>T (p.Val286Phe) c.1420G>T (p.Val474Phe) c.1108G>T (p.Val370Phe) c.589G>T (p.Val197Phe) | |
| 12 | g.51920760T>A | CA384905221 | ACVRL1 | c.1379T>A (p.Val460Asp) c.857T>A (p.Val286Asp) c.1421T>A (p.Val474Asp) c.1109T>A (p.Val370Asp) c.590T>A (p.Val197Asp) | |
| 12 | g.51920760T>C | CA384905223 | ACVRL1 | c.1379T>C (p.Val460Ala) c.857T>C (p.Val286Ala) c.1421T>C (p.Val474Ala) c.1109T>C (p.Val370Ala) c.590T>C (p.Val197Ala) | |
| 12 | g.51920760T>G | CA384905226 | ACVRL1 | c.1379T>G (p.Val460Gly) c.857T>G (p.Val286Gly) c.1421T>G (p.Val474Gly) c.1109T>G (p.Val370Gly) c.590T>G (p.Val197Gly) | |
| 12 | g.51920761C>A | CA479816167 | ACVRL1 | c.1380C>A (p.Val460=) c.858C>A (p.Val286=) c.1422C>A (p.Val474=) c.1110C>A (p.Val370=) c.591C>A (p.Val197=) | |
| 12 | g.51920761C>G | CA479816171 | ACVRL1 | c.1380C>G (p.Val460=) c.858C>G (p.Val286=) c.1422C>G (p.Val474=) c.1110C>G (p.Val370=) c.591C>G (p.Val197=) | |
| 12 | g.51920761C>T | CA479816178 | ACVRL1 | c.1380C>T (p.Val460=) c.858C>T (p.Val286=) c.1422C>T (p.Val474=) c.1110C>T (p.Val370=) c.591C>T (p.Val197=) | COSMIC COSMIC |
| 12 | g.51920762dup | CA2573148789 | ACVRL1 | c.1381dup (p.Leu461ProfsTer?) c.859dup (p.Leu287ProfsTer?) c.1423dup (p.Leu475ProfsTer?) c.1111dup (p.Leu371ProfsTer?) c.592dup (p.Leu198ProfsTer?) | ClinVar |
| 12 | g.51920762C>A | CA384905234 | ACVRL1 | c.1381C>A (p.Leu461Ile) c.859C>A (p.Leu287Ile) c.1423C>A (p.Leu475Ile) c.1111C>A (p.Leu371Ile) c.592C>A (p.Leu198Ile) | |
| 12 | g.51920762C= | CA2036241662 | ACVRL1 | c.1381C= (p.Leu461=) c.859C= (p.Leu287=) c.1423C= (p.Leu475=) c.1111C= (p.Leu371=) c.592C= (p.Leu198=) | |
| 12 | g.51920762C>G | CA6573167 | ACVRL1 | c.1381C>G (p.Leu461Val) c.859C>G (p.Leu287Val) c.1423C>G (p.Leu475Val) c.1111C>G (p.Leu371Val) c.592C>G (p.Leu198Val) | dbSNP ExAC gnomAD |
| 12 | g.51920762C>T | CA384905228 | ACVRL1 | c.1381C>T (p.Leu461Phe) c.859C>T (p.Leu287Phe) c.1423C>T (p.Leu475Phe) c.1111C>T (p.Leu371Phe) c.592C>T (p.Leu198Phe) | |
| 12 | g.51920763T>A | CA384905251 | ACVRL1 | c.1382T>A (p.Leu461His) c.860T>A (p.Leu287His) c.1424T>A (p.Leu475His) c.1112T>A (p.Leu371His) c.593T>A (p.Leu198His) | |
| 12 | g.51920763T>C | CA384905253 | ACVRL1 | c.1382T>C (p.Leu461Pro) c.860T>C (p.Leu287Pro) c.1424T>C (p.Leu475Pro) c.1112T>C (p.Leu371Pro) c.593T>C (p.Leu198Pro) | |
| 12 | g.51920763T>G | CA384905255 | ACVRL1 | c.1382T>G (p.Leu461Arg) c.860T>G (p.Leu287Arg) c.1424T>G (p.Leu475Arg) c.1112T>G (p.Leu371Arg) c.593T>G (p.Leu198Arg) | |
| 12 | g.51920764C>A | CA479816212 | ACVRL1 | c.1383C>A (p.Leu461=) c.861C>A (p.Leu287=) c.1425C>A (p.Leu475=) c.1113C>A (p.Leu371=) c.594C>A (p.Leu198=) | |
| 12 | g.51920764C>G | CA479816216 | ACVRL1 | c.1383C>G (p.Leu461=) c.861C>G (p.Leu287=) c.1425C>G (p.Leu475=) c.1113C>G (p.Leu371=) c.594C>G (p.Leu198=) | |
| 12 | g.51920764C>T | CA479816220 | ACVRL1 | c.1383C>T (p.Leu461=) c.861C>T (p.Leu287=) c.1425C>T (p.Leu475=) c.1113C>T (p.Leu371=) c.594C>T (p.Leu198=) | |
| 12 | g.51920765T>A | CA384905258 | ACVRL1 | c.1384T>A (p.Ser462Thr) c.862T>A (p.Ser288Thr) c.1426T>A (p.Ser476Thr) c.1114T>A (p.Ser372Thr) c.595T>A (p.Ser199Thr) | |
| 12 | g.51920765T>C | CA384905260 | ACVRL1 | c.1384T>C (p.Ser462Pro) c.862T>C (p.Ser288Pro) c.1426T>C (p.Ser476Pro) c.1114T>C (p.Ser372Pro) c.595T>C (p.Ser199Pro) | |
| 12 | g.51920765T>G | CA384905263 | ACVRL1 | c.1384T>G (p.Ser462Ala) c.862T>G (p.Ser288Ala) c.1426T>G (p.Ser476Ala) c.1114T>G (p.Ser372Ala) c.595T>G (p.Ser199Ala) | |
| 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=) |