UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920769_51920770delinsGC | CA2036241682 | ACVRL1 | c.1118_1119delinsGC (p.Gly373=) c.1388_1389delinsGC (p.Gly463=) c.866_867delinsGC (p.Gly289=) c.1430_1431delinsGC (p.Gly477=) c.599_600delinsGC (p.Gly200=) | |
| 12 | g.51920770C>A | CA479816269 | ACVRL1 | c.1119C>A (p.Gly373=) c.1389C>A (p.Gly463=) c.867C>A (p.Gly289=) c.1431C>A (p.Gly477=) c.600C>A (p.Gly200=) | |
| 12 | g.51920770C>G | CA479816273 | ACVRL1 | c.1119C>G (p.Gly373=) c.1389C>G (p.Gly463=) c.867C>G (p.Gly289=) c.1431C>G (p.Gly477=) c.600C>G (p.Gly200=) | |
| 12 | g.51920770C>T | CA479816274 | ACVRL1 | c.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 |
| 12 | g.51920771del | CA645294071 | ACVRL1 | c.1120del (p.Leu374Ter) c.1390del (p.Leu464Ter) c.868del (p.Leu290Ter) c.1432del (p.Leu478Ter) c.601del (p.Leu201Ter) | ClinVar dbSNP |
| 12 | g.51920771C>A | CA384905286 | ACVRL1 | c.1120C>A (p.Leu374Ile) c.1390C>A (p.Leu464Ile) c.868C>A (p.Leu290Ile) c.1432C>A (p.Leu478Ile) c.601C>A (p.Leu201Ile) | |
| 12 | g.51920771C= | CA2036241692 | ACVRL1 | c.1120C= (p.Leu374=) c.1390C= (p.Leu464=) c.868C= (p.Leu290=) c.1432C= (p.Leu478=) c.601C= (p.Leu201=) | |
| 12 | g.51920771C>G | CA384905288 | ACVRL1 | c.1120C>G (p.Leu374Val) c.1390C>G (p.Leu464Val) c.868C>G (p.Leu290Val) c.1432C>G (p.Leu478Val) c.601C>G (p.Leu201Val) | |
| 12 | g.51920771C>T | CA479816278 | ACVRL1 | c.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 |
| 12 | g.51920772T>A | CA384905295 | ACVRL1 | c.1121T>A (p.Leu374Gln) c.1391T>A (p.Leu464Gln) c.869T>A (p.Leu290Gln) c.1433T>A (p.Leu478Gln) c.602T>A (p.Leu201Gln) | |
| 12 | g.51920772T>C | CA384905297 | ACVRL1 | c.1121T>C (p.Leu374Pro) c.1391T>C (p.Leu464Pro) c.869T>C (p.Leu290Pro) c.1433T>C (p.Leu478Pro) c.602T>C (p.Leu201Pro) | |
| 12 | g.51920772T>G | CA384905301 | ACVRL1 | c.1121T>G (p.Leu374Arg) c.1391T>G (p.Leu464Arg) c.869T>G (p.Leu290Arg) c.1433T>G (p.Leu478Arg) c.602T>G (p.Leu201Arg) | |
| 12 | g.51920773A>C | CA479816280 | ACVRL1 | c.1122A>C (p.Leu374=) c.1392A>C (p.Leu464=) c.870A>C (p.Leu290=) c.1434A>C (p.Leu478=) c.603A>C (p.Leu201=) | |
| 12 | g.51920773A>G | CA479816286 | ACVRL1 | c.1122A>G (p.Leu374=) c.1392A>G (p.Leu464=) c.870A>G (p.Leu290=) c.1434A>G (p.Leu478=) c.603A>G (p.Leu201=) | |
| 12 | g.51920773A>T | CA479816284 | ACVRL1 | c.1122A>T (p.Leu374=) c.1392A>T (p.Leu464=) c.870A>T (p.Leu290=) c.1434A>T (p.Leu478=) c.603A>T (p.Leu201=) | |
| 12 | g.51920774G>A | CA384905303 | ACVRL1 | c.1123G>A (p.Ala375Thr) c.1393G>A (p.Ala465Thr) c.871G>A (p.Ala291Thr) c.1435G>A (p.Ala479Thr) c.604G>A (p.Ala202Thr) | |
| 12 | g.51920774G>C | CA384905310 | ACVRL1 | c.1123G>C (p.Ala375Pro) c.1393G>C (p.Ala465Pro) c.871G>C (p.Ala291Pro) c.1435G>C (p.Ala479Pro) c.604G>C (p.Ala202Pro) | |
| 12 | g.51920774G>T | CA384905307 | ACVRL1 | c.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 |
| 12 | g.51920775C>A | CA384905313 | ACVRL1 | c.1124C>A (p.Ala375Asp) c.1394C>A (p.Ala465Asp) c.872C>A (p.Ala291Asp) c.1436C>A (p.Ala479Asp) c.605C>A (p.Ala202Asp) | |
| 12 | g.51920775C>G | CA384905318 | ACVRL1 | c.1124C>G (p.Ala375Gly) c.1394C>G (p.Ala465Gly) c.872C>G (p.Ala291Gly) c.1436C>G (p.Ala479Gly) c.605C>G (p.Ala202Gly) | |
| 12 | g.51920775C>T | CA384905324 | ACVRL1 | c.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 |
| 12 | g.51920776T>A | CA479816313 | ACVRL1 | c.1125T>A (p.Ala375=) c.1395T>A (p.Ala465=) c.873T>A (p.Ala291=) c.1437T>A (p.Ala479=) c.606T>A (p.Ala202=) | |
| 12 | g.51920776T>C | CA479816317 | ACVRL1 | c.1125T>C (p.Ala375=) c.1395T>C (p.Ala465=) c.873T>C (p.Ala291=) c.1437T>C (p.Ala479=) c.606T>C (p.Ala202=) | |
| 12 | g.51920776T>G | CA479816322 | ACVRL1 | c.1125T>G (p.Ala375=) c.1395T>G (p.Ala465=) c.873T>G (p.Ala291=) c.1437T>G (p.Ala479=) c.606T>G (p.Ala202=) | |
| 12 | g.51920777C>A | CA384905327 | ACVRL1 | c.1126C>A (p.Gln376Lys) c.1396C>A (p.Gln466Lys) c.874C>A (p.Gln292Lys) c.1438C>A (p.Gln480Lys) c.607C>A (p.Gln203Lys) | |
| 12 | g.51920777C>G | CA384905329 | ACVRL1 | c.1126C>G (p.Gln376Glu) c.1396C>G (p.Gln466Glu) c.874C>G (p.Gln292Glu) c.1438C>G (p.Gln480Glu) c.607C>G (p.Gln203Glu) | |
| 12 | g.51920777C>T | CA384905331 | ACVRL1 | c.1126C>T (p.Gln376Ter) c.1396C>T (p.Gln466Ter) c.874C>T (p.Gln292Ter) c.1438C>T (p.Gln480Ter) c.607C>T (p.Gln203Ter) | ClinVar |
| 12 | g.51920778A>C | CA384905339 | ACVRL1 | c.1127A>C (p.Gln376Pro) c.1397A>C (p.Gln466Pro) c.875A>C (p.Gln292Pro) c.1439A>C (p.Gln480Pro) c.608A>C (p.Gln203Pro) | |
| 12 | g.51920778A>G | CA384905340 | ACVRL1 | c.1127A>G (p.Gln376Arg) c.1397A>G (p.Gln466Arg) c.875A>G (p.Gln292Arg) c.1439A>G (p.Gln480Arg) c.608A>G (p.Gln203Arg) | |
| 12 | g.51920778A>T | CA384905341 | ACVRL1 | c.1127A>T (p.Gln376Leu) c.1397A>T (p.Gln466Leu) c.875A>T (p.Gln292Leu) c.1439A>T (p.Gln480Leu) c.608A>T (p.Gln203Leu) | |
| 12 | g.51920779_51920780del | CA2580086438 | ACVRL1 | c.1128_1129del (p.Gln376HisfsTer27) c.1398_1399del (p.Gln466HisfsTer27) c.876_877del (p.Gln292HisfsTer27) c.1440_1441del (p.Gln480HisfsTer27) c.609_610del (p.Gln203HisfsTer27) | ClinVar |
| 12 | g.51920779G>A | CA479816341 | ACVRL1 | c.1128G>A (p.Gln376=) c.1398G>A (p.Gln466=) c.876G>A (p.Gln292=) c.1440G>A (p.Gln480=) c.609G>A (p.Gln203=) | |
| 12 | g.51920779G>C | CA384905342 | ACVRL1 | c.1128G>C (p.Gln376His) c.1398G>C (p.Gln466His) c.876G>C (p.Gln292His) c.1440G>C (p.Gln480His) c.609G>C (p.Gln203His) | |
| 12 | g.51920779G>T | CA384905343 | ACVRL1 | c.1128G>T (p.Gln376His) c.1398G>T (p.Gln466His) c.876G>T (p.Gln292His) c.1440G>T (p.Gln480His) c.609G>T (p.Gln203His) | |
| 12 | g.51920780A= | CA2036241697 | ACVRL1 | c.1129A= (p.Met377=) c.1399A= (p.Met467=) c.877A= (p.Met293=) c.1441A= (p.Met481=) c.610A= (p.Met204=) | |
| 12 | g.51920780A>C | CA384905348 | ACVRL1 | c.1129A>C (p.Met377Leu) c.1399A>C (p.Met467Leu) c.877A>C (p.Met293Leu) c.1441A>C (p.Met481Leu) c.610A>C (p.Met204Leu) | |
| 12 | g.51920780A>G | CA6573169 | ACVRL1 | c.1129A>G (p.Met377Val) c.1399A>G (p.Met467Val) c.877A>G (p.Met293Val) c.1441A>G (p.Met481Val) c.610A>G (p.Met204Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920780A>T | CA384905344 | ACVRL1 | c.1129A>T (p.Met377Leu) c.1399A>T (p.Met467Leu) c.877A>T (p.Met293Leu) c.1441A>T (p.Met481Leu) c.610A>T (p.Met204Leu) | |
| 12 | g.51920781T>A | CA384905349 | ACVRL1 | c.1130T>A (p.Met377Lys) c.1400T>A (p.Met467Lys) c.878T>A (p.Met293Lys) c.1442T>A (p.Met481Lys) c.611T>A (p.Met204Lys) | |
| 12 | g.51920781T>C | CA384905351 | ACVRL1 | c.1130T>C (p.Met377Thr) c.1400T>C (p.Met467Thr) c.878T>C (p.Met293Thr) c.1442T>C (p.Met481Thr) c.611T>C (p.Met204Thr) | |
| 12 | g.51920781T>G | CA384905373 | ACVRL1 | c.1130T>G (p.Met377Arg) c.1400T>G (p.Met467Arg) c.878T>G (p.Met293Arg) c.1442T>G (p.Met481Arg) c.611T>G (p.Met204Arg) | |
| 12 | g.51920782G>A | CA384905375 | ACVRL1 | c.1131G>A (p.Met377Ile) c.1401G>A (p.Met467Ile) c.879G>A (p.Met293Ile) c.1443G>A (p.Met481Ile) c.612G>A (p.Met204Ile) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51920782G>C | CA384905376 | ACVRL1 | c.1131G>C (p.Met377Ile) c.1401G>C (p.Met467Ile) c.879G>C (p.Met293Ile) c.1443G>C (p.Met481Ile) c.612G>C (p.Met204Ile) | |
| 12 | g.51920782G>T | CA384905377 | ACVRL1 | c.1131G>T (p.Met377Ile) c.1401G>T (p.Met467Ile) c.879G>T (p.Met293Ile) c.1443G>T (p.Met481Ile) c.612G>T (p.Met204Ile) | |
| 12 | g.51920783A= | CA2036241702 | ACVRL1 | c.1132A= (p.Met378=) c.1402A= (p.Met468=) c.880A= (p.Met294=) c.1444A= (p.Met482=) c.613A= (p.Met205=) | |
| 12 | g.51920783A>C | CA384905378 | ACVRL1 | c.1132A>C (p.Met378Leu) c.1402A>C (p.Met468Leu) c.880A>C (p.Met294Leu) c.1444A>C (p.Met482Leu) c.613A>C (p.Met205Leu) | |
| 12 | g.51920783A>G | CA384905379 | ACVRL1 | c.1132A>G (p.Met378Val) c.1402A>G (p.Met468Val) c.880A>G (p.Met294Val) c.1444A>G (p.Met482Val) c.613A>G (p.Met205Val) | |
| 12 | g.51920783A>T | CA384905381 | ACVRL1 | c.1132A>T (p.Met378Leu) c.1402A>T (p.Met468Leu) c.880A>T (p.Met294Leu) c.1444A>T (p.Met482Leu) c.613A>T (p.Met205Leu) | |
| 12 | g.51920784T>A | CA384905388 | ACVRL1 | c.1133T>A (p.Met378Lys) c.1403T>A (p.Met468Lys) c.881T>A (p.Met294Lys) c.1445T>A (p.Met482Lys) c.614T>A (p.Met205Lys) | |
| 12 | g.51920784T>C | CA384905389 | ACVRL1 | c.1133T>C (p.Met378Thr) c.1403T>C (p.Met468Thr) c.881T>C (p.Met294Thr) c.1445T>C (p.Met482Thr) c.614T>C (p.Met205Thr) | |
| 12 | g.51920784T>G | CA384905396 | ACVRL1 | c.1133T>G (p.Met378Arg) c.1403T>G (p.Met468Arg) c.881T>G (p.Met294Arg) c.1445T>G (p.Met482Arg) c.614T>G (p.Met205Arg) | ClinVar |
| 12 | g.51920787_51920794dup | CA16043812 | ACVRL1 | c.1136_1143dup (p.Trp382GlyfsTer?) c.1406_1413dup (p.Trp472GlyfsTer?) c.884_891dup (p.Trp298GlyfsTer?) c.1448_1455dup (p.Trp486GlyfsTer?) c.617_624dup (p.Trp209GlyfsTer?) | ClinVar dbSNP |
| 12 | g.51920785G>A | CA384905402 | ACVRL1 | c.1134G>A (p.Met378Ile) c.1404G>A (p.Met468Ile) c.882G>A (p.Met294Ile) c.1446G>A (p.Met482Ile) c.615G>A (p.Met205Ile) | gnomAD v4 |
| 12 | g.51920785G>C | CA384905404 | ACVRL1 | c.1134G>C (p.Met378Ile) c.1404G>C (p.Met468Ile) c.882G>C (p.Met294Ile) c.1446G>C (p.Met482Ile) c.615G>C (p.Met205Ile) | |
| 12 | g.51920785G>T | CA384905399 | ACVRL1 | c.1134G>T (p.Met378Ile) c.1404G>T (p.Met468Ile) c.882G>T (p.Met294Ile) c.1446G>T (p.Met482Ile) c.615G>T (p.Met205Ile) | COSMIC COSMIC |
| 12 | g.51920786C>A | CA6573171 | ACVRL1 | c.1135C>A (p.Arg379=) c.1405C>A (p.Arg469=) c.883C>A (p.Arg295=) c.1447C>A (p.Arg483=) c.616C>A (p.Arg206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920786C= | CA2036241714 | ACVRL1 | c.1135C= (p.Arg379=) c.1405C= (p.Arg469=) c.883C= (p.Arg295=) c.1447C= (p.Arg483=) c.616C= (p.Arg206=) | |
| 12 | g.51920786C>G | CA384905405 | ACVRL1 | c.1135C>G (p.Arg379Gly) c.1405C>G (p.Arg469Gly) c.883C>G (p.Arg295Gly) c.1447C>G (p.Arg483Gly) c.616C>G (p.Arg206Gly) | |
| 12 | g.51920786C>T | CA6573170 | ACVRL1 | c.1135C>T (p.Arg379Trp) c.1405C>T (p.Arg469Trp) c.883C>T (p.Arg295Trp) c.1447C>T (p.Arg483Trp) c.616C>T (p.Arg206Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920787G>A | CA6573172 | ACVRL1 | c.1136G>A (p.Arg379Gln) c.1406G>A (p.Arg469Gln) c.884G>A (p.Arg295Gln) c.1448G>A (p.Arg483Gln) c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920787G>C | CA6573173 | ACVRL1 | c.1136G>C (p.Arg379Pro) c.1406G>C (p.Arg469Pro) c.884G>C (p.Arg295Pro) c.1448G>C (p.Arg483Pro) c.617G>C (p.Arg206Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920787G= | CA2036241719 | ACVRL1 | c.1136G= (p.Arg379=) c.1406G= (p.Arg469=) c.884G= (p.Arg295=) c.1448G= (p.Arg483=) c.617G= (p.Arg206=) | |
| 12 | g.51920787G>T | CA384905452 | ACVRL1 | c.1136G>T (p.Arg379Leu) c.1406G>T (p.Arg469Leu) c.884G>T (p.Arg295Leu) c.1448G>T (p.Arg483Leu) c.617G>T (p.Arg206Leu) | |
| 12 | g.51920789dup | CA2580086439 | ACVRL1 | c.1138dup (p.Glu380GlyfsTer24) c.1408dup (p.Glu470GlyfsTer24) c.886dup (p.Glu296GlyfsTer24) c.1450dup (p.Glu484GlyfsTer24) c.619dup (p.Glu207GlyfsTer24) | ClinVar |
| 12 | g.51920788G>A | CA479816411 | ACVRL1 | c.1137G>A (p.Arg379=) c.1407G>A (p.Arg469=) c.885G>A (p.Arg295=) c.1449G>A (p.Arg483=) c.618G>A (p.Arg206=) | gnomAD v4 |
| 12 | g.51920788G>C | CA479816412 | ACVRL1 | c.1137G>C (p.Arg379=) c.1407G>C (p.Arg469=) c.885G>C (p.Arg295=) c.1449G>C (p.Arg483=) c.618G>C (p.Arg206=) | |
| 12 | g.51920788G>T | CA479816416 | ACVRL1 | c.1137G>T (p.Arg379=) c.1407G>T (p.Arg469=) c.885G>T (p.Arg295=) c.1449G>T (p.Arg483=) c.618G>T (p.Arg206=) | |
| 12 | g.51920789G>A | CA384905455 | ACVRL1 | c.1138G>A (p.Glu380Lys) c.1408G>A (p.Glu470Lys) c.886G>A (p.Glu296Lys) c.1450G>A (p.Glu484Lys) c.619G>A (p.Glu207Lys) | |
| 12 | g.51920789G>C | CA384905458 | ACVRL1 | c.1138G>C (p.Glu380Gln) c.1408G>C (p.Glu470Gln) c.886G>C (p.Glu296Gln) c.1450G>C (p.Glu484Gln) c.619G>C (p.Glu207Gln) | |
| 12 | g.51920789G>T | CA384905463 | ACVRL1 | c.1138G>T (p.Glu380Ter) c.1408G>T (p.Glu470Ter) c.886G>T (p.Glu296Ter) c.1450G>T (p.Glu484Ter) c.619G>T (p.Glu207Ter) | COSMIC COSMIC |
| 12 | g.51920790A>C | CA384905466 | ACVRL1 | c.1139A>C (p.Glu380Ala) c.1409A>C (p.Glu470Ala) c.887A>C (p.Glu296Ala) c.1451A>C (p.Glu484Ala) c.620A>C (p.Glu207Ala) | |
| 12 | g.51920790A>G | CA384905472 | ACVRL1 | c.1139A>G (p.Glu380Gly) c.1409A>G (p.Glu470Gly) c.887A>G (p.Glu296Gly) c.1451A>G (p.Glu484Gly) c.620A>G (p.Glu207Gly) | |
| 12 | g.51920790A>T | CA384905474 | ACVRL1 | c.1139A>T (p.Glu380Val) c.1409A>T (p.Glu470Val) c.887A>T (p.Glu296Val) c.1451A>T (p.Glu484Val) c.620A>T (p.Glu207Val) | |
| 12 | g.51920791G>A | CA479816441 | ACVRL1 | c.1140G>A (p.Glu380=) c.1410G>A (p.Glu470=) c.888G>A (p.Glu296=) c.1452G>A (p.Glu484=) c.621G>A (p.Glu207=) | |
| 12 | g.51920791G>C | CA6573174 | ACVRL1 | c.1140G>C (p.Glu380Asp) c.1410G>C (p.Glu470Asp) c.888G>C (p.Glu296Asp) c.1452G>C (p.Glu484Asp) c.621G>C (p.Glu207Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920791G= | CA2036241724 | ACVRL1 | c.1140G= (p.Glu380=) c.1410G= (p.Glu470=) c.888G= (p.Glu296=) c.1452G= (p.Glu484=) c.621G= (p.Glu207=) | |
| 12 | g.51920791G>T | CA384905477 | ACVRL1 | c.1140G>T (p.Glu380Asp) c.1410G>T (p.Glu470Asp) c.888G>T (p.Glu296Asp) c.1452G>T (p.Glu484Asp) c.621G>T (p.Glu207Asp) | |
| 12 | g.51920792T>A | CA384905484 | ACVRL1 | c.1141T>A (p.Cys381Ser) c.1411T>A (p.Cys471Ser) c.889T>A (p.Cys297Ser) c.1453T>A (p.Cys485Ser) c.622T>A (p.Cys208Ser) | |
| 12 | g.51920792T>C | CA384905481 | ACVRL1 | c.1141T>C (p.Cys381Arg) c.1411T>C (p.Cys471Arg) c.889T>C (p.Cys297Arg) c.1453T>C (p.Cys485Arg) c.622T>C (p.Cys208Arg) | ClinVar |
| 12 | g.51920792T>G | CA384905480 | ACVRL1 | c.1141T>G (p.Cys381Gly) c.1411T>G (p.Cys471Gly) c.889T>G (p.Cys297Gly) c.1453T>G (p.Cys485Gly) c.622T>G (p.Cys208Gly) | ClinVar dbSNP |
| 12 | g.51920792T= | CA2036241727 | ACVRL1 | c.1141T= (p.Cys381=) c.1411T= (p.Cys471=) c.889T= (p.Cys297=) c.1453T= (p.Cys485=) c.622T= (p.Cys208=) | |
| 12 | g.51920793G>A | CA384905485 | ACVRL1 | c.1142G>A (p.Cys381Tyr) c.1412G>A (p.Cys471Tyr) c.890G>A (p.Cys297Tyr) c.1454G>A (p.Cys485Tyr) c.623G>A (p.Cys208Tyr) | ClinVar dbSNP |
| 12 | g.51920793G>C | CA384905488 | ACVRL1 | c.1142G>C (p.Cys381Ser) c.1412G>C (p.Cys471Ser) c.890G>C (p.Cys297Ser) c.1454G>C (p.Cys485Ser) c.623G>C (p.Cys208Ser) | |
| 12 | g.51920793G= | CA2036241735 | ACVRL1 | c.1142G= (p.Cys381=) c.1412G= (p.Cys471=) c.890G= (p.Cys297=) c.1454G= (p.Cys485=) c.623G= (p.Cys208=) | |
| 12 | g.51920793G>T | CA384905490 | ACVRL1 | c.1142G>T (p.Cys381Phe) c.1412G>T (p.Cys471Phe) c.890G>T (p.Cys297Phe) c.1454G>T (p.Cys485Phe) c.623G>T (p.Cys208Phe) | |
| 12 | g.51920794C>A | CA384905493 | ACVRL1 | c.1143C>A (p.Cys381Ter) c.1413C>A (p.Cys471Ter) c.891C>A (p.Cys297Ter) c.1455C>A (p.Cys485Ter) c.624C>A (p.Cys208Ter) | ClinVar dbSNP |
| 12 | g.51920794C= | CA2036241740 | ACVRL1 | c.1143C= (p.Cys381=) c.1413C= (p.Cys471=) c.891C= (p.Cys297=) c.1455C= (p.Cys485=) c.624C= (p.Cys208=) | |
| 12 | g.51920794C>G | CA384905504 | ACVRL1 | c.1143C>G (p.Cys381Trp) c.1413C>G (p.Cys471Trp) c.891C>G (p.Cys297Trp) c.1455C>G (p.Cys485Trp) c.624C>G (p.Cys208Trp) | |
| 12 | g.51920794C>T | CA479816459 | ACVRL1 | c.1143C>T (p.Cys381=) c.1413C>T (p.Cys471=) c.891C>T (p.Cys297=) c.1455C>T (p.Cys485=) c.624C>T (p.Cys208=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920795T>A | CA384905507 | ACVRL1 | c.1144T>A (p.Trp382Arg) c.1414T>A (p.Trp472Arg) c.892T>A (p.Trp298Arg) c.1456T>A (p.Trp486Arg) c.625T>A (p.Trp209Arg) | ClinVar |
| 12 | g.51920795T>C | CA384905508 | ACVRL1 | c.1144T>C (p.Trp382Arg) c.1414T>C (p.Trp472Arg) c.892T>C (p.Trp298Arg) c.1456T>C (p.Trp486Arg) c.625T>C (p.Trp209Arg) | ClinVar |
| 12 | g.51920795T>G | CA384905509 | ACVRL1 | c.1144T>G (p.Trp382Gly) c.1414T>G (p.Trp472Gly) c.892T>G (p.Trp298Gly) c.1456T>G (p.Trp486Gly) c.625T>G (p.Trp209Gly) | |
| 12 | g.51920796G>A | CA324198 | ACVRL1 | c.1145G>A (p.Trp382Ter) c.1415G>A (p.Trp472Ter) c.893G>A (p.Trp298Ter) c.1457G>A (p.Trp486Ter) c.626G>A (p.Trp209Ter) | ClinVar dbSNP |
| 12 | g.51920796G>C | CA384905510 | ACVRL1 | c.1145G>C (p.Trp382Ser) c.1415G>C (p.Trp472Ser) c.893G>C (p.Trp298Ser) c.1457G>C (p.Trp486Ser) c.626G>C (p.Trp209Ser) | |
| 12 | g.51920796G= | CA2036241746 | ACVRL1 | c.1145G= (p.Trp382=) c.1415G= (p.Trp472=) c.893G= (p.Trp298=) c.1457G= (p.Trp486=) c.626G= (p.Trp209=) | |
| 12 | g.51920796G>T | CA384905512 | ACVRL1 | c.1145G>T (p.Trp382Leu) c.1415G>T (p.Trp472Leu) c.893G>T (p.Trp298Leu) c.1457G>T (p.Trp486Leu) c.626G>T (p.Trp209Leu) | |
| 12 | g.51920797G>A | CA384905514 | ACVRL1 | c.1146G>A (p.Trp382Ter) c.1416G>A (p.Trp472Ter) c.894G>A (p.Trp298Ter) c.1458G>A (p.Trp486Ter) c.627G>A (p.Trp209Ter) | ClinVar |
| 12 | g.51920797G>C | CA16613828 | ACVRL1 | c.1146G>C (p.Trp382Cys) c.1416G>C (p.Trp472Cys) c.894G>C (p.Trp298Cys) c.1458G>C (p.Trp486Cys) c.627G>C (p.Trp209Cys) | ClinVar dbSNP |
| 12 | g.51920797G= | CA2036241752 | ACVRL1 | c.1146G= (p.Trp382=) c.1416G= (p.Trp472=) c.894G= (p.Trp298=) c.1458G= (p.Trp486=) c.627G= (p.Trp209=) | |
| 12 | g.51920797G>T | CA384905521 | ACVRL1 | c.1146G>T (p.Trp382Cys) c.1416G>T (p.Trp472Cys) c.894G>T (p.Trp298Cys) c.1458G>T (p.Trp486Cys) c.627G>T (p.Trp209Cys) | ClinVar dbSNP |
| 12 | g.51920798T>A | CA384905535 | ACVRL1 | c.1147T>A (p.Tyr383Asn) c.1417T>A (p.Tyr473Asn) c.895T>A (p.Tyr299Asn) c.1459T>A (p.Tyr487Asn) c.628T>A (p.Tyr210Asn) | |
| 12 | g.51920798T>C | CA384905538 | ACVRL1 | c.1147T>C (p.Tyr383His) c.1417T>C (p.Tyr473His) c.895T>C (p.Tyr299His) c.1459T>C (p.Tyr487His) c.628T>C (p.Tyr210His) | |
| 12 | g.51920798T>G | CA384905523 | ACVRL1 | c.1147T>G (p.Tyr383Asp) c.1417T>G (p.Tyr473Asp) c.895T>G (p.Tyr299Asp) c.1459T>G (p.Tyr487Asp) c.628T>G (p.Tyr210Asp) | |
| 12 | g.51920799A= | CA2036241759 | ACVRL1 | c.1148A= (p.Tyr383=) c.1418A= (p.Tyr473=) c.896A= (p.Tyr299=) c.1460A= (p.Tyr487=) c.629A= (p.Tyr210=) | |
| 12 | g.51920799A>C | CA384905541 | ACVRL1 | c.1148A>C (p.Tyr383Ser) c.1418A>C (p.Tyr473Ser) c.896A>C (p.Tyr299Ser) c.1460A>C (p.Tyr487Ser) c.629A>C (p.Tyr210Ser) | dbSNP |
| 12 | g.51920799A>G | CA384905544 | ACVRL1 | c.1148A>G (p.Tyr383Cys) c.1418A>G (p.Tyr473Cys) c.896A>G (p.Tyr299Cys) c.1460A>G (p.Tyr487Cys) c.629A>G (p.Tyr210Cys) | |
| 12 | g.51920799A>T | CA384905546 | ACVRL1 | c.1148A>T (p.Tyr383Phe) c.1418A>T (p.Tyr473Phe) c.896A>T (p.Tyr299Phe) c.1460A>T (p.Tyr487Phe) c.629A>T (p.Tyr210Phe) | |
| 12 | g.51920800C>A | CA384905547 | ACVRL1 | c.1149C>A (p.Tyr383Ter) c.1419C>A (p.Tyr473Ter) c.897C>A (p.Tyr299Ter) c.1461C>A (p.Tyr487Ter) c.630C>A (p.Tyr210Ter) | ClinVar dbSNP |
| 12 | g.51920800C= | CA2036241761 | ACVRL1 | c.1149C= (p.Tyr383=) c.1419C= (p.Tyr473=) c.897C= (p.Tyr299=) c.1461C= (p.Tyr487=) c.630C= (p.Tyr210=) | |
| 12 | g.51920800C>G | CA384905548 | ACVRL1 | c.1149C>G (p.Tyr383Ter) c.1419C>G (p.Tyr473Ter) c.897C>G (p.Tyr299Ter) c.1461C>G (p.Tyr487Ter) c.630C>G (p.Tyr210Ter) | ClinVar dbSNP |
| 12 | g.51920800C>T | CA479816537 | ACVRL1 | c.1149C>T (p.Tyr383=) c.1419C>T (p.Tyr473=) c.897C>T (p.Tyr299=) c.1461C>T (p.Tyr487=) c.630C>T (p.Tyr210=) | |
| 12 | g.51920802del | CA2695216727 | ACVRL1 | c.1151del (p.Pro384GlnfsTer28) c.1421del (p.Pro474GlnfsTer28) c.899del (p.Pro300GlnfsTer28) c.1463del (p.Pro488GlnfsTer28) c.632del (p.Pro211GlnfsTer28) | |
| 12 | g.51920801C>A | CA384905556 | ACVRL1 | c.1150C>A (p.Pro384Thr) c.1420C>A (p.Pro474Thr) c.898C>A (p.Pro300Thr) c.1462C>A (p.Pro488Thr) c.631C>A (p.Pro211Thr) | COSMIC COSMIC |
| 12 | g.51920801C>G | CA384905553 | ACVRL1 | c.1150C>G (p.Pro384Ala) c.1420C>G (p.Pro474Ala) c.898C>G (p.Pro300Ala) c.1462C>G (p.Pro488Ala) c.631C>G (p.Pro211Ala) | |
| 12 | g.51920801C>T | CA384905549 | ACVRL1 | c.1150C>T (p.Pro384Ser) c.1420C>T (p.Pro474Ser) c.898C>T (p.Pro300Ser) c.1462C>T (p.Pro488Ser) c.631C>T (p.Pro211Ser) | |
| 12 | g.51920802C>A | CA384905559 | ACVRL1 | c.1151C>A (p.Pro384Gln) c.1421C>A (p.Pro474Gln) c.899C>A (p.Pro300Gln) c.1463C>A (p.Pro488Gln) c.632C>A (p.Pro211Gln) | gnomAD v4 |
| 12 | g.51920802C>G | CA384905560 | ACVRL1 | c.1151C>G (p.Pro384Arg) c.1421C>G (p.Pro474Arg) c.899C>G (p.Pro300Arg) c.1463C>G (p.Pro488Arg) c.632C>G (p.Pro211Arg) | |
| 12 | g.51920802C>T | CA384905562 | ACVRL1 | c.1151C>T (p.Pro384Leu) c.1421C>T (p.Pro474Leu) c.899C>T (p.Pro300Leu) c.1463C>T (p.Pro488Leu) c.632C>T (p.Pro211Leu) | |
| 12 | g.51920803A>C | CA479816562 | ACVRL1 | c.1152A>C (p.Pro384=) c.1422A>C (p.Pro474=) c.900A>C (p.Pro300=) c.1464A>C (p.Pro488=) c.633A>C (p.Pro211=) | |
| 12 | g.51920803A>G | CA479816567 | ACVRL1 | c.1152A>G (p.Pro384=) c.1422A>G (p.Pro474=) c.900A>G (p.Pro300=) c.1464A>G (p.Pro488=) c.633A>G (p.Pro211=) | |
| 12 | g.51920803A>T | CA479816564 | ACVRL1 | c.1152A>T (p.Pro384=) c.1422A>T (p.Pro474=) c.900A>T (p.Pro300=) c.1464A>T (p.Pro488=) c.633A>T (p.Pro211=) | |
| 12 | g.51920804A>C | CA384905565 | ACVRL1 | c.1153A>C (p.Asn385His) c.1423A>C (p.Asn475His) c.901A>C (p.Asn301His) c.1465A>C (p.Asn489His) c.634A>C (p.Asn212His) | |
| 12 | g.51920804A>G | CA384905568 | ACVRL1 | c.1153A>G (p.Asn385Asp) c.1423A>G (p.Asn475Asp) c.901A>G (p.Asn301Asp) c.1465A>G (p.Asn489Asp) c.634A>G (p.Asn212Asp) | |
| 12 | g.51920804A>T | CA384905570 | ACVRL1 | c.1153A>T (p.Asn385Tyr) c.1423A>T (p.Asn475Tyr) c.901A>T (p.Asn301Tyr) c.1465A>T (p.Asn489Tyr) c.634A>T (p.Asn212Tyr) | |
| 12 | g.51920804_51920805insCACACCCAACAC | CA2795983359 | ACVRL1 | c.1153_1154insCACACCCAACAC (p.Asn385delinsThrHisProThrHis) c.1423_1424insCACACCCAACAC (p.Asn475delinsThrHisProThrHis) c.901_902insCACACCCAACAC (p.Asn301delinsThrHisProThrHis) c.1465_1466insCACACCCAACAC (p.Asn489delinsThrHisProThrHis) c.634_635insCACACCCAACAC (p.Asn212delinsThrHisProThrHis) | |
| 12 | g.51920805A= | CA2036241766 | ACVRL1 | c.1154A= (p.Asn385=) c.1424A= (p.Asn475=) c.902A= (p.Asn301=) c.1466A= (p.Asn489=) c.635A= (p.Asn212=) | |
| 12 | g.51920805A>C | CA384905573 | ACVRL1 | c.1154A>C (p.Asn385Thr) c.1424A>C (p.Asn475Thr) c.902A>C (p.Asn301Thr) c.1466A>C (p.Asn489Thr) c.635A>C (p.Asn212Thr) | dbSNP |
| 12 | g.51920805A>G | CA384905577 | ACVRL1 | c.1154A>G (p.Asn385Ser) c.1424A>G (p.Asn475Ser) c.902A>G (p.Asn301Ser) c.1466A>G (p.Asn489Ser) c.635A>G (p.Asn212Ser) | |
| 12 | g.51920805A>T | CA384905574 | ACVRL1 | c.1154A>T (p.Asn385Ile) c.1424A>T (p.Asn475Ile) c.902A>T (p.Asn301Ile) c.1466A>T (p.Asn489Ile) c.635A>T (p.Asn212Ile) | |
| 12 | g.51920805_51920806delinsAC | CA2036241767 | ACVRL1 | c.1154_1155delinsAC (p.Asn385=) c.1424_1425delinsAC (p.Asn475=) c.902_903delinsAC (p.Asn301=) c.1466_1467delinsAC (p.Asn489=) c.635_636delinsAC (p.Asn212=) | |
| 12 | g.51920806C>A | CA384905578 | ACVRL1 | c.1155C>A (p.Asn385Lys) c.1425C>A (p.Asn475Lys) c.903C>A (p.Asn301Lys) c.1467C>A (p.Asn489Lys) c.636C>A (p.Asn212Lys) | gnomAD v4 |
| 12 | g.51920806C= | CA2036241780 | ACVRL1 | c.1155C= (p.Asn385=) c.1425C= (p.Asn475=) c.903C= (p.Asn301=) c.1467C= (p.Asn489=) c.636C= (p.Asn212=) | |
| 12 | g.51920806C>G | CA384905579 | ACVRL1 | c.1155C>G (p.Asn385Lys) c.1425C>G (p.Asn475Lys) c.903C>G (p.Asn301Lys) c.1467C>G (p.Asn489Lys) c.636C>G (p.Asn212Lys) | |
| 12 | g.51920806C>T | CA6573175 | ACVRL1 | c.1155C>T (p.Asn385=) c.1425C>T (p.Asn475=) c.903C>T (p.Asn301=) c.1467C>T (p.Asn489=) c.636C>T (p.Asn212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920809dup | CA2695216728 | ACVRL1 | c.1158dup (p.Ser387LeufsTer17) c.1428dup (p.Ser477LeufsTer17) c.906dup (p.Ser303LeufsTer17) c.1470dup (p.Ser491LeufsTer17) c.639dup (p.Ser214LeufsTer17) | |
| 12 | g.51920809del | CA915948414 | ACVRL1 | c.1158del (p.Ser387LeufsTer25) c.1428del (p.Ser477LeufsTer25) c.906del (p.Ser303LeufsTer25) c.1470del (p.Ser491LeufsTer25) c.639del (p.Ser214LeufsTer25) | ClinVar dbSNP |
| 12 | g.51920807_51920809del | CA2697554499 | ACVRL1 | c.1156_1158del (p.Pro386del) c.1426_1428del (p.Pro476del) c.904_906del (p.Pro302del) c.1468_1470del (p.Pro490del) c.637_639del (p.Pro213del) | ClinVar |
| 12 | g.51920807C>A | CA384905596 | ACVRL1 | c.1156C>A (p.Pro386Thr) c.1426C>A (p.Pro476Thr) c.904C>A (p.Pro302Thr) c.1468C>A (p.Pro490Thr) c.637C>A (p.Pro213Thr) | |
| 12 | g.51920807C>G | CA384905599 | ACVRL1 | c.1156C>G (p.Pro386Ala) c.1426C>G (p.Pro476Ala) c.904C>G (p.Pro302Ala) c.1468C>G (p.Pro490Ala) c.637C>G (p.Pro213Ala) | |
| 12 | g.51920807C>T | CA384905606 | ACVRL1 | c.1156C>T (p.Pro386Ser) c.1426C>T (p.Pro476Ser) c.904C>T (p.Pro302Ser) c.1468C>T (p.Pro490Ser) c.637C>T (p.Pro213Ser) | gnomAD v4 |
| 12 | g.51920808C>A | CA384905609 | ACVRL1 | c.1157C>A (p.Pro386His) c.1427C>A (p.Pro476His) c.905C>A (p.Pro302His) c.1469C>A (p.Pro490His) c.638C>A (p.Pro213His) | |
| 12 | g.51920808C= | CA2036241791 | ACVRL1 | c.1157C= (p.Pro386=) c.1427C= (p.Pro476=) c.905C= (p.Pro302=) c.1469C= (p.Pro490=) c.638C= (p.Pro213=) | |
| 12 | g.51920808C>G | CA384905615 | ACVRL1 | c.1157C>G (p.Pro386Arg) c.1427C>G (p.Pro476Arg) c.905C>G (p.Pro302Arg) c.1469C>G (p.Pro490Arg) c.638C>G (p.Pro213Arg) | ClinVar dbSNP |
| 12 | g.51920808C>T | CA384905619 | ACVRL1 | c.1157C>T (p.Pro386Leu) c.1427C>T (p.Pro476Leu) c.905C>T (p.Pro302Leu) c.1469C>T (p.Pro490Leu) c.638C>T (p.Pro213Leu) | ClinVar dbSNP COSMIC |
| 12 | g.51920809C>A | CA479816612 | ACVRL1 | c.1158C>A (p.Pro386=) c.1428C>A (p.Pro476=) c.906C>A (p.Pro302=) c.1470C>A (p.Pro490=) c.639C>A (p.Pro213=) | |
| 12 | g.51920809C= | CA2036241805 | ACVRL1 | c.1158C= (p.Pro386=) c.1428C= (p.Pro476=) c.906C= (p.Pro302=) c.1470C= (p.Pro490=) c.639C= (p.Pro213=) | |
| 12 | g.51920809C>G | CA479816615 | ACVRL1 | c.1158C>G (p.Pro386=) c.1428C>G (p.Pro476=) c.906C>G (p.Pro302=) c.1470C>G (p.Pro490=) c.639C>G (p.Pro213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920809C>T | CA6573176 | ACVRL1 | c.1158C>T (p.Pro386=) c.1428C>T (p.Pro476=) c.906C>T (p.Pro302=) c.1470C>T (p.Pro490=) c.639C>T (p.Pro213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920809_51920812del | CA2795983780 | ACVRL1 | c.1158_1161del (p.Ser387ProfsTer24) c.1428_1431del (p.Ser477ProfsTer24) c.906_909del (p.Ser303ProfsTer24) c.1470_1473del (p.Ser491ProfsTer24) c.639_642del (p.Ser214ProfsTer24) | |
| 12 | g.51920810T>A | CA384905631 | ACVRL1 | c.1159T>A (p.Ser387Thr) c.1429T>A (p.Ser477Thr) c.907T>A (p.Ser303Thr) c.1471T>A (p.Ser491Thr) c.640T>A (p.Ser214Thr) | |
| 12 | g.51920810T>C | CA384905628 | ACVRL1 | c.1159T>C (p.Ser387Pro) c.1429T>C (p.Ser477Pro) c.907T>C (p.Ser303Pro) c.1471T>C (p.Ser491Pro) c.640T>C (p.Ser214Pro) | |
| 12 | g.51920810T>G | CA384905626 | ACVRL1 | c.1159T>G (p.Ser387Ala) c.1429T>G (p.Ser477Ala) c.907T>G (p.Ser303Ala) c.1471T>G (p.Ser491Ala) c.640T>G (p.Ser214Ala) | |
| 12 | g.51920811C>A | CA384905635 | ACVRL1 | c.1160C>A (p.Ser387Tyr) c.1430C>A (p.Ser477Tyr) c.908C>A (p.Ser303Tyr) c.1472C>A (p.Ser491Tyr) c.641C>A (p.Ser214Tyr) | |
| 12 | g.51920811C= | CA2036241809 | ACVRL1 | c.1160C= (p.Ser387=) c.1430C= (p.Ser477=) c.908C= (p.Ser303=) c.1472C= (p.Ser491=) c.641C= (p.Ser214=) | |
| 12 | g.51920811C>G | CA384905659 | ACVRL1 | c.1160C>G (p.Ser387Cys) c.1430C>G (p.Ser477Cys) c.908C>G (p.Ser303Cys) c.1472C>G (p.Ser491Cys) c.641C>G (p.Ser214Cys) | |
| 12 | g.51920811C>T | CA384905655 | ACVRL1 | c.1160C>T (p.Ser387Phe) c.1430C>T (p.Ser477Phe) c.908C>T (p.Ser303Phe) c.1472C>T (p.Ser491Phe) c.641C>T (p.Ser214Phe) | dbSNP gnomAD v4 |
| 12 | g.51920812_51920813insCACCCGCT | CA2695216729 | ACVRL1 | c.1161_1162insCACCCGCT (p.Ala388HisfsTer27) c.1431_1432insCACCCGCT (p.Ala478HisfsTer27) c.909_910insCACCCGCT (p.Ala304HisfsTer27) c.1473_1474insCACCCGCT (p.Ala492HisfsTer27) c.642_643insCACCCGCT (p.Ala215HisfsTer27) | |
| 12 | g.51920812T>A | CA479816644 | ACVRL1 | c.1161T>A (p.Ser387=) c.1431T>A (p.Ser477=) c.909T>A (p.Ser303=) c.1473T>A (p.Ser491=) c.642T>A (p.Ser214=) | |
| 12 | g.51920812T>C | CA479816646 | ACVRL1 | c.1161T>C (p.Ser387=) c.1431T>C (p.Ser477=) c.909T>C (p.Ser303=) c.1473T>C (p.Ser491=) c.642T>C (p.Ser214=) | |
| 12 | g.51920812T>G | CA479816652 | ACVRL1 | c.1161T>G (p.Ser387=) c.1431T>G (p.Ser477=) c.909T>G (p.Ser303=) c.1473T>G (p.Ser491=) c.642T>G (p.Ser214=) | |
| 12 | g.51920813G>A | CA384905663 | ACVRL1 | c.1162G>A (p.Ala388Thr) c.1432G>A (p.Ala478Thr) c.910G>A (p.Ala304Thr) c.1474G>A (p.Ala492Thr) c.643G>A (p.Ala215Thr) | |
| 12 | g.51920813G>C | CA384905669 | ACVRL1 | c.1162G>C (p.Ala388Pro) c.1432G>C (p.Ala478Pro) c.910G>C (p.Ala304Pro) c.1474G>C (p.Ala492Pro) c.643G>C (p.Ala215Pro) | ClinVar dbSNP |
| 12 | g.51920813G= | CA2036241811 | ACVRL1 | c.1162G= (p.Ala388=) c.1432G= (p.Ala478=) c.910G= (p.Ala304=) c.1474G= (p.Ala492=) c.643G= (p.Ala215=) | |
| 12 | g.51920813G>T | CA384905671 | ACVRL1 | c.1162G>T (p.Ala388Ser) c.1432G>T (p.Ala478Ser) c.910G>T (p.Ala304Ser) c.1474G>T (p.Ala492Ser) c.643G>T (p.Ala215Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920814C>A | CA384905673 | ACVRL1 | c.1163C>A (p.Ala388Asp) c.1433C>A (p.Ala478Asp) c.911C>A (p.Ala304Asp) c.1475C>A (p.Ala492Asp) c.644C>A (p.Ala215Asp) | ClinVar dbSNP |
| 12 | g.51920814C= | CA2036241815 | ACVRL1 | c.1163C= (p.Ala388=) c.1433C= (p.Ala478=) c.911C= (p.Ala304=) c.1475C= (p.Ala492=) c.644C= (p.Ala215=) | |
| 12 | g.51920814C>G | CA384905675 | ACVRL1 | c.1163C>G (p.Ala388Gly) c.1433C>G (p.Ala478Gly) c.911C>G (p.Ala304Gly) c.1475C>G (p.Ala492Gly) c.644C>G (p.Ala215Gly) | |
| 12 | g.51920814C>T | CA384905678 | ACVRL1 | c.1163C>T (p.Ala388Val) c.1433C>T (p.Ala478Val) c.911C>T (p.Ala304Val) c.1475C>T (p.Ala492Val) c.644C>T (p.Ala215Val) | gnomAD v4 |
| 12 | g.51920815C>A | CA479816668 | ACVRL1 | c.1164C>A (p.Ala388=) c.1434C>A (p.Ala478=) c.912C>A (p.Ala304=) c.1476C>A (p.Ala492=) c.645C>A (p.Ala215=) | gnomAD v4 |
| 12 | g.51920815C= | CA2036241818 | ACVRL1 | c.1164C= (p.Ala388=) c.1434C= (p.Ala478=) c.912C= (p.Ala304=) c.1476C= (p.Ala492=) c.645C= (p.Ala215=) | |
| 12 | g.51920815C>G | CA479816682 | ACVRL1 | c.1164C>G (p.Ala388=) c.1434C>G (p.Ala478=) c.912C>G (p.Ala304=) c.1476C>G (p.Ala492=) c.645C>G (p.Ala215=) | dbSNP gnomAD v4 |
| 12 | g.51920815C>T | CA479816693 | ACVRL1 | c.1164C>T (p.Ala388=) c.1434C>T (p.Ala478=) c.912C>T (p.Ala304=) c.1476C>T (p.Ala492=) c.645C>T (p.Ala215=) | gnomAD v4 |
| 12 | g.51920816C>A | CA479816697 | ACVRL1 | c.1165C>A (p.Arg389=) c.1435C>A (p.Arg479=) c.913C>A (p.Arg305=) c.1477C>A (p.Arg493=) c.646C>A (p.Arg216=) | gnomAD v4 |
| 12 | g.51920816C= | CA2036241824 | ACVRL1 | c.1165C= (p.Arg389=) c.1435C= (p.Arg479=) c.913C= (p.Arg305=) c.1477C= (p.Arg493=) c.646C= (p.Arg216=) | |
| 12 | g.51920816C>G | CA384905679 | ACVRL1 | c.1165C>G (p.Arg389Gly) c.1435C>G (p.Arg479Gly) c.913C>G (p.Arg305Gly) c.1477C>G (p.Arg493Gly) c.646C>G (p.Arg216Gly) | |
| 12 | g.51920816C>T | CA16042853 | ACVRL1 | c.1165C>T (p.Arg389Ter) c.1435C>T (p.Arg479Ter) c.913C>T (p.Arg305Ter) c.1477C>T (p.Arg493Ter) c.646C>T (p.Arg216Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920817_51920821dup | CA2695199089 | ACVRL1 | c.1166_1170dup (p.Thr391AspfsTer23) c.1436_1440dup (p.Thr481AspfsTer23) c.914_918dup (p.Thr307AspfsTer23) c.1478_1482dup (p.Thr495AspfsTer23) c.647_651dup (p.Thr218AspfsTer23) | ClinVar |
| 12 | g.51920817G>A | CA384905684 | ACVRL1 | c.1166G>A (p.Arg389Gln) c.1436G>A (p.Arg479Gln) c.914G>A (p.Arg305Gln) c.1478G>A (p.Arg493Gln) c.647G>A (p.Arg216Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920817G>C | CA384905687 | ACVRL1 | c.1166G>C (p.Arg389Pro) c.1436G>C (p.Arg479Pro) c.914G>C (p.Arg305Pro) c.1478G>C (p.Arg493Pro) c.647G>C (p.Arg216Pro) | ClinVar dbSNP |
| 12 | g.51920817G= | CA2036241828 | ACVRL1 | c.1166G= (p.Arg389=) c.1436G= (p.Arg479=) c.914G= (p.Arg305=) c.1478G= (p.Arg493=) c.647G= (p.Arg216=) | |
| 12 | g.51920817G>T | CA384905691 | ACVRL1 | c.1166G>T (p.Arg389Leu) c.1436G>T (p.Arg479Leu) c.914G>T (p.Arg305Leu) c.1478G>T (p.Arg493Leu) c.647G>T (p.Arg216Leu) | |
| 12 | g.51920818A>C | CA479816714 | ACVRL1 | c.1167A>C (p.Arg389=) c.1437A>C (p.Arg479=) c.915A>C (p.Arg305=) c.1479A>C (p.Arg493=) c.648A>C (p.Arg216=) | |
| 12 | g.51920818A>G | CA479816717 | ACVRL1 | c.1167A>G (p.Arg389=) c.1437A>G (p.Arg479=) c.915A>G (p.Arg305=) c.1479A>G (p.Arg493=) c.648A>G (p.Arg216=) | |
| 12 | g.51920818A>T | CA479816721 | ACVRL1 | c.1167A>T (p.Arg389=) c.1437A>T (p.Arg479=) c.915A>T (p.Arg305=) c.1479A>T (p.Arg493=) c.648A>T (p.Arg216=) | |
| 12 | g.51920819C>A | CA384905708 | ACVRL1 | c.1168C>A (p.Leu390Ile) c.1438C>A (p.Leu480Ile) c.916C>A (p.Leu306Ile) c.1480C>A (p.Leu494Ile) c.649C>A (p.Leu217Ile) | ClinVar |
| 12 | g.51920819C>G | CA384905706 | ACVRL1 | c.1168C>G (p.Leu390Val) c.1438C>G (p.Leu480Val) c.916C>G (p.Leu306Val) c.1480C>G (p.Leu494Val) c.649C>G (p.Leu217Val) | |
| 12 | g.51920819C>T | CA384905700 | ACVRL1 | c.1168C>T (p.Leu390Phe) c.1438C>T (p.Leu480Phe) c.916C>T (p.Leu306Phe) c.1480C>T (p.Leu494Phe) c.649C>T (p.Leu217Phe) | ClinVar |
| 12 | g.51920820T>A | CA384905709 | ACVRL1 | c.1169T>A (p.Leu390His) c.1439T>A (p.Leu480His) c.917T>A (p.Leu306His) c.1481T>A (p.Leu494His) c.650T>A (p.Leu217His) | |
| 12 | g.51920820T>C | CA384905710 | ACVRL1 | c.1169T>C (p.Leu390Pro) c.1439T>C (p.Leu480Pro) c.917T>C (p.Leu306Pro) c.1481T>C (p.Leu494Pro) c.650T>C (p.Leu217Pro) | |
| 12 | g.51920820T>G | CA384905711 | ACVRL1 | c.1169T>G (p.Leu390Arg) c.1439T>G (p.Leu480Arg) c.917T>G (p.Leu306Arg) c.1481T>G (p.Leu494Arg) c.650T>G (p.Leu217Arg) | |
| 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.51920821C>A | CA479816728 | ACVRL1 | c.1170C>A (p.Leu390=) c.1440C>A (p.Leu480=) c.918C>A (p.Leu306=) c.1482C>A (p.Leu494=) c.651C>A (p.Leu217=) | |
| 12 | g.51920821C= | CA2036241835 | ACVRL1 | c.1170C= (p.Leu390=) c.1440C= (p.Leu480=) c.918C= (p.Leu306=) c.1482C= (p.Leu494=) c.651C= (p.Leu217=) | |
| 12 | g.51920821C>G | CA479816734 | ACVRL1 | c.1170C>G (p.Leu390=) c.1440C>G (p.Leu480=) c.918C>G (p.Leu306=) c.1482C>G (p.Leu494=) c.651C>G (p.Leu217=) | |
| 12 | g.51920821C>T | CA236367754 | ACVRL1 | c.1170C>T (p.Leu390=) c.1440C>T (p.Leu480=) c.918C>T (p.Leu306=) c.1482C>T (p.Leu494=) c.651C>T (p.Leu217=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920822A>C | CA384905712 | ACVRL1 | c.1171A>C (p.Thr391Pro) c.1441A>C (p.Thr481Pro) c.919A>C (p.Thr307Pro) c.1483A>C (p.Thr495Pro) c.652A>C (p.Thr218Pro) | |
| 12 | g.51920822A>G | CA384905713 | ACVRL1 | c.1171A>G (p.Thr391Ala) c.1441A>G (p.Thr481Ala) c.919A>G (p.Thr307Ala) c.1483A>G (p.Thr495Ala) c.652A>G (p.Thr218Ala) | |
| 12 | g.51920822A>T | CA384905722 | ACVRL1 | c.1171A>T (p.Thr391Ser) c.1441A>T (p.Thr481Ser) c.919A>T (p.Thr307Ser) c.1483A>T (p.Thr495Ser) c.652A>T (p.Thr218Ser) | |
| 12 | g.51920823C>A | CA384905725 | ACVRL1 | c.1172C>A (p.Thr391Asn) c.1442C>A (p.Thr481Asn) c.920C>A (p.Thr307Asn) c.1484C>A (p.Thr495Asn) c.653C>A (p.Thr218Asn) | |
| 12 | g.51920823C>G | CA384905727 | ACVRL1 | c.1172C>G (p.Thr391Ser) c.1442C>G (p.Thr481Ser) c.920C>G (p.Thr307Ser) c.1484C>G (p.Thr495Ser) c.653C>G (p.Thr218Ser) | |
| 12 | g.51920823C>T | CA384905729 | ACVRL1 | c.1172C>T (p.Thr391Ile) c.1442C>T (p.Thr481Ile) c.920C>T (p.Thr307Ile) c.1484C>T (p.Thr495Ile) c.653C>T (p.Thr218Ile) | ClinVar |
| 12 | g.51920824C>A | CA479816784 | ACVRL1 | c.1173C>A (p.Thr391=) c.1443C>A (p.Thr481=) c.921C>A (p.Thr307=) c.1485C>A (p.Thr495=) c.654C>A (p.Thr218=) | |
| 12 | g.51920824C= | CA2036241840 | ACVRL1 | c.1173C= (p.Thr391=) c.1443C= (p.Thr481=) c.921C= (p.Thr307=) c.1485C= (p.Thr495=) c.654C= (p.Thr218=) | |
| 12 | g.51920824C>G | CA479816780 | ACVRL1 | c.1173C>G (p.Thr391=) c.1443C>G (p.Thr481=) c.921C>G (p.Thr307=) c.1485C>G (p.Thr495=) c.654C>G (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920824C>T | CA479816777 | ACVRL1 | c.1173C>T (p.Thr391=) c.1443C>T (p.Thr481=) c.921C>T (p.Thr307=) c.1485C>T (p.Thr495=) c.654C>T (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>A | CA6573177 | ACVRL1 | c.1174G>A (p.Ala392Thr) c.1444G>A (p.Ala482Thr) c.922G>A (p.Ala308Thr) c.1486G>A (p.Ala496Thr) c.655G>A (p.Ala219Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>C | CA384905733 | ACVRL1 | c.1174G>C (p.Ala392Pro) c.1444G>C (p.Ala482Pro) c.922G>C (p.Ala308Pro) c.1486G>C (p.Ala496Pro) c.655G>C (p.Ala219Pro) | ClinVar |
| 12 | g.51920825G= | CA2036241844 | ACVRL1 | c.1174G= (p.Ala392=) c.1444G= (p.Ala482=) c.922G= (p.Ala308=) c.1486G= (p.Ala496=) c.655G= (p.Ala219=) | |
| 12 | g.51920825G>T | CA384905738 | ACVRL1 | c.1174G>T (p.Ala392Ser) c.1444G>T (p.Ala482Ser) c.922G>T (p.Ala308Ser) c.1486G>T (p.Ala496Ser) c.655G>T (p.Ala219Ser) | |
| 12 | g.51920826C>A | CA384905746 | ACVRL1 | c.1175C>A (p.Ala392Glu) c.1445C>A (p.Ala482Glu) c.923C>A (p.Ala308Glu) c.1487C>A (p.Ala496Glu) c.656C>A (p.Ala219Glu) | ClinVar |
| 12 | g.51920826C= | CA2036241849 | ACVRL1 | c.1175C= (p.Ala392=) c.1445C= (p.Ala482=) c.923C= (p.Ala308=) c.1487C= (p.Ala496=) c.656C= (p.Ala219=) | |
| 12 | g.51920826C>G | CA384905751 | ACVRL1 | c.1175C>G (p.Ala392Gly) c.1445C>G (p.Ala482Gly) c.923C>G (p.Ala308Gly) c.1487C>G (p.Ala496Gly) c.656C>G (p.Ala219Gly) | |
| 12 | g.51920826C>T | CA211324 | ACVRL1 | c.1175C>T (p.Ala392Val) c.1445C>T (p.Ala482Val) c.923C>T (p.Ala308Val) c.1487C>T (p.Ala496Val) c.656C>T (p.Ala219Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>A | CA236367761 | ACVRL1 | c.1176G>A (p.Ala392=) c.1446G>A (p.Ala482=) c.924G>A (p.Ala308=) c.1488G>A (p.Ala496=) c.657G>A (p.Ala219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>C | CA479816815 | ACVRL1 | c.1176G>C (p.Ala392=) c.1446G>C (p.Ala482=) c.924G>C (p.Ala308=) c.1488G>C (p.Ala496=) c.657G>C (p.Ala219=) | |
| 12 | g.51920827G= | CA2036241858 | ACVRL1 | c.1176G= (p.Ala392=) c.1446G= (p.Ala482=) c.924G= (p.Ala308=) c.1488G= (p.Ala496=) c.657G= (p.Ala219=) | |
| 12 | g.51920827G>T | CA479816819 | ACVRL1 | c.1176G>T (p.Ala392=) c.1446G>T (p.Ala482=) c.924G>T (p.Ala308=) c.1488G>T (p.Ala496=) c.657G>T (p.Ala219=) | gnomAD v4 |
| 12 | g.51920828C>A | CA384905760 | ACVRL1 | c.1177C>A (p.Leu393Met) c.1447C>A (p.Leu483Met) c.925C>A (p.Leu309Met) c.1489C>A (p.Leu497Met) c.658C>A (p.Leu220Met) | |
| 12 | g.51920828C>G | CA384905770 | ACVRL1 | c.1177C>G (p.Leu393Val) c.1447C>G (p.Leu483Val) c.925C>G (p.Leu309Val) c.1489C>G (p.Leu497Val) c.658C>G (p.Leu220Val) | |
| 12 | g.51920828C>T | CA479816825 | ACVRL1 | c.1177C>T (p.Leu393=) c.1447C>T (p.Leu483=) c.925C>T (p.Leu309=) c.1489C>T (p.Leu497=) c.658C>T (p.Leu220=) | |
| 12 | g.51920828_51920829delinsCT | CA2036241867 | ACVRL1 | c.1177_1178delinsCT (p.Leu393=) c.1447_1448delinsCT (p.Leu483=) c.925_926delinsCT (p.Leu309=) c.1489_1490delinsCT (p.Leu497=) c.658_659delinsCT (p.Leu220=) | |
| 12 | g.51920829del | CA1139662711 | ACVRL1 | c.1178del (p.Leu393ArgfsTer19) c.1448del (p.Leu483ArgfsTer19) c.926del (p.Leu309ArgfsTer19) c.1490del (p.Leu497ArgfsTer19) c.659del (p.Leu220ArgfsTer19) | ClinVar dbSNP |
| 12 | g.51920829T>A | CA384905774 | ACVRL1 | c.1178T>A (p.Leu393Gln) c.1448T>A (p.Leu483Gln) c.926T>A (p.Leu309Gln) c.1490T>A (p.Leu497Gln) c.659T>A (p.Leu220Gln) | |
| 12 | g.51920829T>C | CA384905784 | ACVRL1 | c.1178T>C (p.Leu393Pro) c.1448T>C (p.Leu483Pro) c.926T>C (p.Leu309Pro) c.1490T>C (p.Leu497Pro) c.659T>C (p.Leu220Pro) | |
| 12 | g.51920829T>G | CA384905789 | ACVRL1 | c.1178T>G (p.Leu393Arg) c.1448T>G (p.Leu483Arg) c.926T>G (p.Leu309Arg) c.1490T>G (p.Leu497Arg) c.659T>G (p.Leu220Arg) | ClinVar dbSNP |
| 12 | g.51920829T= | CA2036241874 | ACVRL1 | c.1178T= (p.Leu393=) c.1448T= (p.Leu483=) c.926T= (p.Leu309=) c.1490T= (p.Leu497=) c.659T= (p.Leu220=) | |
| 12 | g.51920830G>A | CA479816836 | ACVRL1 | c.1179G>A (p.Leu393=) c.1449G>A (p.Leu483=) c.927G>A (p.Leu309=) c.1491G>A (p.Leu497=) c.660G>A (p.Leu220=) | |
| 12 | g.51920830G>C | CA479816858 | ACVRL1 | c.1179G>C (p.Leu393=) c.1449G>C (p.Leu483=) c.927G>C (p.Leu309=) c.1491G>C (p.Leu497=) c.660G>C (p.Leu220=) | gnomAD v4 |
| 12 | g.51920830G>T | CA479816851 | ACVRL1 | c.1179G>T (p.Leu393=) c.1449G>T (p.Leu483=) c.927G>T (p.Leu309=) c.1491G>T (p.Leu497=) c.660G>T (p.Leu220=) | |
| 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) | ClinVar 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) | |
| 12 | g.51920843A>G | CA384905928 | ACVRL1 | c.1192A>G (p.Thr398Ala) c.1462A>G (p.Thr488Ala) c.940A>G (p.Thr314Ala) c.1504A>G (p.Thr502Ala) c.673A>G (p.Thr225Ala) | |
| 12 | g.51920843A>T | CA384905947 | ACVRL1 | c.1192A>T (p.Thr398Ser) c.1462A>T (p.Thr488Ser) c.940A>T (p.Thr314Ser) c.1504A>T (p.Thr502Ser) c.673A>T (p.Thr225Ser) | |
| 12 | g.51920844C>A | CA384905961 | ACVRL1 | c.1193C>A (p.Thr398Lys) c.1463C>A (p.Thr488Lys) c.941C>A (p.Thr314Lys) c.1505C>A (p.Thr502Lys) c.674C>A (p.Thr225Lys) | |
| 12 | g.51920844C>G | CA384905966 | ACVRL1 | c.1193C>G (p.Thr398Arg) c.1463C>G (p.Thr488Arg) c.941C>G (p.Thr314Arg) c.1505C>G (p.Thr502Arg) c.674C>G (p.Thr225Arg) | |
| 12 | g.51920844C>T | CA384905975 | ACVRL1 | c.1193C>T (p.Thr398Ile) c.1463C>T (p.Thr488Ile) c.941C>T (p.Thr314Ile) c.1505C>T (p.Thr502Ile) c.674C>T (p.Thr225Ile) | |
| 12 | g.51920845A= | CA2036241942 | ACVRL1 | c.1194A= (p.Thr398=) c.1464A= (p.Thr488=) c.942A= (p.Thr314=) c.1506A= (p.Thr502=) c.675A= (p.Thr225=) | |
| 12 | g.51920845A>C | CA479817004 | ACVRL1 | c.1194A>C (p.Thr398=) c.1464A>C (p.Thr488=) c.942A>C (p.Thr314=) c.1506A>C (p.Thr502=) c.675A>C (p.Thr225=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920845A>G | CA479816997 | ACVRL1 | c.1194A>G (p.Thr398=) c.1464A>G (p.Thr488=) c.942A>G (p.Thr314=) c.1506A>G (p.Thr502=) c.675A>G (p.Thr225=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920845A>T | CA479817000 | ACVRL1 | c.1194A>T (p.Thr398=) c.1464A>T (p.Thr488=) c.942A>T (p.Thr314=) c.1506A>T (p.Thr502=) c.675A>T (p.Thr225=) | |
| 12 | g.51920846C>A | CA384906000 | ACVRL1 | c.1195C>A (p.Leu399Ile) c.1465C>A (p.Leu489Ile) c.943C>A (p.Leu315Ile) c.1507C>A (p.Leu503Ile) c.676C>A (p.Leu226Ile) | ClinVar dbSNP |
| 12 | g.51920846C= | CA2036241945 | ACVRL1 | c.1195C= (p.Leu399=) c.1465C= (p.Leu489=) c.943C= (p.Leu315=) c.1507C= (p.Leu503=) c.676C= (p.Leu226=) | |
| 12 | g.51920846C>G | CA384905980 | ACVRL1 | c.1195C>G (p.Leu399Val) c.1465C>G (p.Leu489Val) c.943C>G (p.Leu315Val) c.1507C>G (p.Leu503Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
| 12 | g.51920846C>T | CA479817013 | ACVRL1 | c.1195C>T (p.Leu399=) c.1465C>T (p.Leu489=) c.943C>T (p.Leu315=) c.1507C>T (p.Leu503=) c.676C>T (p.Leu226=) | |
| 12 | g.51920847T>A | CA384906007 | ACVRL1 | c.1196T>A (p.Leu399Gln) c.1466T>A (p.Leu489Gln) c.944T>A (p.Leu315Gln) c.1508T>A (p.Leu503Gln) c.677T>A (p.Leu226Gln) | |
| 12 | g.51920847T>C | CA16606658 | ACVRL1 | c.1196T>C (p.Leu399Pro) c.1466T>C (p.Leu489Pro) c.944T>C (p.Leu315Pro) c.1508T>C (p.Leu503Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
| 12 | g.51920847T>G | CA384906009 | ACVRL1 | c.1196T>G (p.Leu399Arg) c.1466T>G (p.Leu489Arg) c.944T>G (p.Leu315Arg) c.1508T>G (p.Leu503Arg) c.677T>G (p.Leu226Arg) | |
| 12 | g.51920847T= | CA2036241949 | ACVRL1 | c.1196T= (p.Leu399=) c.1466T= (p.Leu489=) c.944T= (p.Leu315=) c.1508T= (p.Leu503=) c.677T= (p.Leu226=) | |
| 12 | g.51920848A>C | CA479817030 | ACVRL1 | c.1197A>C (p.Leu399=) c.1467A>C (p.Leu489=) c.945A>C (p.Leu315=) c.1509A>C (p.Leu503=) c.678A>C (p.Leu226=) | |
| 12 | g.51920848A>G | CA479817038 | ACVRL1 | c.1197A>G (p.Leu399=) c.1467A>G (p.Leu489=) c.945A>G (p.Leu315=) c.1509A>G (p.Leu503=) c.678A>G (p.Leu226=) | ClinVar gnomAD v4 |
| 12 | g.51920848A>T | CA479817042 | ACVRL1 | c.1197A>T (p.Leu399=) c.1467A>T (p.Leu489=) c.945A>T (p.Leu315=) c.1509A>T (p.Leu503=) c.678A>T (p.Leu226=) | |
| 12 | g.51920849C>A | CA384906010 | ACVRL1 | c.1198C>A (p.Gln400Lys) c.1468C>A (p.Gln490Lys) c.946C>A (p.Gln316Lys) c.1510C>A (p.Gln504Lys) c.679C>A (p.Gln227Lys) | |
| 12 | g.51920849C= | CA2036241958 | ACVRL1 | c.1198C= (p.Gln400=) c.1468C= (p.Gln490=) c.946C= (p.Gln316=) c.1510C= (p.Gln504=) c.679C= (p.Gln227=) | |
| 12 | g.51920849C>G | CA384906011 | ACVRL1 | c.1198C>G (p.Gln400Glu) c.1468C>G (p.Gln490Glu) c.946C>G (p.Gln316Glu) c.1510C>G (p.Gln504Glu) c.679C>G (p.Gln227Glu) | |
| 12 | g.51920849C>T | CA384906013 | ACVRL1 | c.1198C>T (p.Gln400Ter) c.1468C>T (p.Gln490Ter) c.946C>T (p.Gln316Ter) c.1510C>T (p.Gln504Ter) c.679C>T (p.Gln227Ter) | ClinVar dbSNP |
| 12 | g.51920850A>C | CA384906021 | ACVRL1 | c.1199A>C (p.Gln400Pro) c.1469A>C (p.Gln490Pro) c.947A>C (p.Gln316Pro) c.1511A>C (p.Gln504Pro) c.680A>C (p.Gln227Pro) | |
| 12 | g.51920850A>G | CA384906018 | ACVRL1 | c.1199A>G (p.Gln400Arg) c.1469A>G (p.Gln490Arg) c.947A>G (p.Gln316Arg) c.1511A>G (p.Gln504Arg) c.680A>G (p.Gln227Arg) | |
| 12 | g.51920850A>T | CA384906019 | ACVRL1 | c.1199A>T (p.Gln400Leu) c.1469A>T (p.Gln490Leu) c.947A>T (p.Gln316Leu) c.1511A>T (p.Gln504Leu) c.680A>T (p.Gln227Leu) | gnomAD v4 |
| 12 | g.51920855del | CA645594556 | ACVRL1 | c.1204del (p.Ile402LeufsTer10) c.1474del (p.Ile492LeufsTer10) c.952del (p.Ile318LeufsTer10) c.1516del (p.Ile506LeufsTer10) c.685del (p.Ile229LeufsTer10) | COSMIC COSMIC |
| 12 | g.51920851A= | CA2036241963 | ACVRL1 | c.1200A= (p.Gln400=) c.1470A= (p.Gln490=) c.948A= (p.Gln316=) c.1512A= (p.Gln504=) c.681A= (p.Gln227=) | |
| 12 | g.51920851A>C | CA384906025 | ACVRL1 | c.1200A>C (p.Gln400His) c.1470A>C (p.Gln490His) c.948A>C (p.Gln316His) c.1512A>C (p.Gln504His) c.681A>C (p.Gln227His) | gnomAD v4 |
| 12 | g.51920851A>G | CA479817075 | ACVRL1 | c.1200A>G (p.Gln400=) c.1470A>G (p.Gln490=) c.948A>G (p.Gln316=) c.1512A>G (p.Gln504=) c.681A>G (p.Gln227=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920851A>T | CA384906028 | ACVRL1 | c.1200A>T (p.Gln400His) c.1470A>T (p.Gln490His) c.948A>T (p.Gln316His) c.1512A>T (p.Gln504His) c.681A>T (p.Gln227His) | |
| 12 | g.51920852A>C | CA384906032 | ACVRL1 | c.1201A>C (p.Lys401Gln) c.1471A>C (p.Lys491Gln) c.949A>C (p.Lys317Gln) c.1513A>C (p.Lys505Gln) c.682A>C (p.Lys228Gln) | |
| 12 | g.51920852A>G | CA384906034 | ACVRL1 | c.1201A>G (p.Lys401Glu) c.1471A>G (p.Lys491Glu) c.949A>G (p.Lys317Glu) c.1513A>G (p.Lys505Glu) c.682A>G (p.Lys228Glu) | |
| 12 | g.51920852A>T | CA384906035 | ACVRL1 | c.1201A>T (p.Lys401Ter) c.1471A>T (p.Lys491Ter) c.949A>T (p.Lys317Ter) c.1513A>T (p.Lys505Ter) c.682A>T (p.Lys228Ter) | |
| 12 | g.51920853A= | CA2036241966 | ACVRL1 | c.1202A= (p.Lys401=) c.1472A= (p.Lys491=) c.950A= (p.Lys317=) c.1514A= (p.Lys505=) c.683A= (p.Lys228=) | |
| 12 | g.51920853A>C | CA384906037 | ACVRL1 | c.1202A>C (p.Lys401Thr) c.1472A>C (p.Lys491Thr) c.950A>C (p.Lys317Thr) c.1514A>C (p.Lys505Thr) c.683A>C (p.Lys228Thr) | |
| 12 | g.51920853A>G | CA384906039 | ACVRL1 | c.1202A>G (p.Lys401Arg) c.1472A>G (p.Lys491Arg) c.950A>G (p.Lys317Arg) c.1514A>G (p.Lys505Arg) c.683A>G (p.Lys228Arg) | |
| 12 | g.51920853A>T | CA384906043 | ACVRL1 | c.1202A>T (p.Lys401Ile) c.1472A>T (p.Lys491Ile) c.950A>T (p.Lys317Ile) c.1514A>T (p.Lys505Ile) c.683A>T (p.Lys228Ile) | |
| 12 | g.51920854A>C | CA384906059 | ACVRL1 | c.1203A>C (p.Lys401Asn) c.1473A>C (p.Lys491Asn) c.951A>C (p.Lys317Asn) c.1515A>C (p.Lys505Asn) c.684A>C (p.Lys228Asn) | |
| 12 | g.51920854A>G | CA479817089 | ACVRL1 | c.1203A>G (p.Lys401=) c.1473A>G (p.Lys491=) c.951A>G (p.Lys317=) c.1515A>G (p.Lys505=) c.684A>G (p.Lys228=) | |
| 12 | g.51920854A>T | CA384906067 | ACVRL1 | c.1203A>T (p.Lys401Asn) c.1473A>T (p.Lys491Asn) c.951A>T (p.Lys317Asn) c.1515A>T (p.Lys505Asn) c.684A>T (p.Lys228Asn) | |
| 12 | g.51920855A>C | CA384906071 | ACVRL1 | c.1204A>C (p.Ile402Leu) c.1474A>C (p.Ile492Leu) c.952A>C (p.Ile318Leu) c.1516A>C (p.Ile506Leu) c.685A>C (p.Ile229Leu) | |
| 12 | g.51920855A>G | CA384906072 | ACVRL1 | c.1204A>G (p.Ile402Val) c.1474A>G (p.Ile492Val) c.952A>G (p.Ile318Val) c.1516A>G (p.Ile506Val) c.685A>G (p.Ile229Val) | |
| 12 | g.51920855A>T | CA384906075 | ACVRL1 | c.1204A>T (p.Ile402Phe) c.1474A>T (p.Ile492Phe) c.952A>T (p.Ile318Phe) c.1516A>T (p.Ile506Phe) c.685A>T (p.Ile229Phe) | |
| 12 | g.51920855_51920856insAACCAAACACACCCAACACA | CA2795983804 | ACVRL1 | c.1204_1205insAACCAAACACACCCAACACA (p.Ile402LysfsTer17) c.1474_1475insAACCAAACACACCCAACACA (p.Ile492LysfsTer17) c.952_953insAACCAAACACACCCAACACA (p.Ile318LysfsTer17) c.1516_1517insAACCAAACACACCCAACACA (p.Ile506LysfsTer17) c.685_686insAACCAAACACACCCAACACA (p.Ile229LysfsTer17) | |
| 12 | g.51920856T>A | CA384906088 | ACVRL1 | c.1205T>A (p.Ile402Asn) c.1475T>A (p.Ile492Asn) c.953T>A (p.Ile318Asn) c.1517T>A (p.Ile506Asn) c.686T>A (p.Ile229Asn) | |
| 12 | g.51920856T>C | CA384906082 | ACVRL1 | c.1205T>C (p.Ile402Thr) c.1475T>C (p.Ile492Thr) c.953T>C (p.Ile318Thr) c.1517T>C (p.Ile506Thr) c.686T>C (p.Ile229Thr) | |
| 12 | g.51920856T>G | CA384906083 | ACVRL1 | c.1205T>G (p.Ile402Ser) c.1475T>G (p.Ile492Ser) c.953T>G (p.Ile318Ser) c.1517T>G (p.Ile506Ser) c.686T>G (p.Ile229Ser) | |
| 12 | g.51920857T>A | CA479817117 | ACVRL1 | c.1206T>A (p.Ile402=) c.1476T>A (p.Ile492=) c.954T>A (p.Ile318=) c.1518T>A (p.Ile506=) c.687T>A (p.Ile229=) | |
| 12 | g.51920857T>C | CA479817121 | ACVRL1 | c.1206T>C (p.Ile402=) c.1476T>C (p.Ile492=) c.954T>C (p.Ile318=) c.1518T>C (p.Ile506=) c.687T>C (p.Ile229=) | |
| 12 | g.51920857T>G | CA384906098 | ACVRL1 | c.1206T>G (p.Ile402Met) c.1476T>G (p.Ile492Met) c.954T>G (p.Ile318Met) c.1518T>G (p.Ile506Met) c.687T>G (p.Ile229Met) | |
| 12 | g.51920858A>C | CA384906102 | ACVRL1 | c.1207A>C (p.Ser403Arg) c.1477A>C (p.Ser493Arg) c.955A>C (p.Ser319Arg) c.1519A>C (p.Ser507Arg) c.688A>C (p.Ser230Arg) | |
| 12 | g.51920858A>G | CA384906105 | ACVRL1 | c.1207A>G (p.Ser403Gly) c.1477A>G (p.Ser493Gly) c.955A>G (p.Ser319Gly) c.1519A>G (p.Ser507Gly) c.688A>G (p.Ser230Gly) | |
| 12 | g.51920858A>T | CA384906111 | ACVRL1 | c.1207A>T (p.Ser403Cys) c.1477A>T (p.Ser493Cys) c.955A>T (p.Ser319Cys) c.1519A>T (p.Ser507Cys) c.688A>T (p.Ser230Cys) | |
| 12 | g.51920858_51920859delinsAG | CA2036241969 | ACVRL1 | c.1207_1208delinsAG (p.Ser403=) c.1477_1478delinsAG (p.Ser493=) c.955_956delinsAG (p.Ser319=) c.1519_1520delinsAG (p.Ser507=) c.688_689delinsAG (p.Ser230=) | |
| 12 | g.51920859del | CA16609765 | ACVRL1 | c.1208del (p.Ser403ThrfsTer9) c.1478del (p.Ser493ThrfsTer9) c.956del (p.Ser319ThrfsTer9) c.1520del (p.Ser507ThrfsTer9) c.689del (p.Ser230ThrfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920859G>A | CA384906116 | ACVRL1 | c.1208G>A (p.Ser403Asn) c.1478G>A (p.Ser493Asn) c.956G>A (p.Ser319Asn) c.1520G>A (p.Ser507Asn) c.689G>A (p.Ser230Asn) | |
| 12 | g.51920859G>C | CA384906129 | ACVRL1 | c.1208G>C (p.Ser403Thr) c.1478G>C (p.Ser493Thr) c.956G>C (p.Ser319Thr) c.1520G>C (p.Ser507Thr) c.689G>C (p.Ser230Thr) | |
| 12 | g.51920859G= | CA2036241977 | ACVRL1 | c.1208G= (p.Ser403=) c.1478G= (p.Ser493=) c.956G= (p.Ser319=) c.1520G= (p.Ser507=) c.689G= (p.Ser230=) | |
| 12 | g.51920859G>T | CA6573178 | ACVRL1 | c.1208G>T (p.Ser403Ile) c.1478G>T (p.Ser493Ile) c.956G>T (p.Ser319Ile) c.1520G>T (p.Ser507Ile) c.689G>T (p.Ser230Ile) | dbSNP ExAC gnomAD v2 |
| 12 | g.51920860C>A | CA384906135 | ACVRL1 | c.1209C>A (p.Ser403Arg) c.1479C>A (p.Ser493Arg) c.957C>A (p.Ser319Arg) c.1521C>A (p.Ser507Arg) c.690C>A (p.Ser230Arg) | |
| 12 | g.51920860C= | CA2036241978 | ACVRL1 | c.1209C= (p.Ser403=) c.1479C= (p.Ser493=) c.957C= (p.Ser319=) c.1521C= (p.Ser507=) c.690C= (p.Ser230=) | |
| 12 | g.51920860C>G | CA384906162 | ACVRL1 | c.1209C>G (p.Ser403Arg) c.1479C>G (p.Ser493Arg) c.957C>G (p.Ser319Arg) c.1521C>G (p.Ser507Arg) c.690C>G (p.Ser230Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920860C>T | CA479817155 | ACVRL1 | c.1209C>T (p.Ser403=) c.1479C>T (p.Ser493=) c.957C>T (p.Ser319=) c.1521C>T (p.Ser507=) c.690C>T (p.Ser230=) | |
| 12 | g.51920861A>C | CA384906166 | ACVRL1 | c.1210A>C (p.Asn404His) c.1480A>C (p.Asn494His) c.958A>C (p.Asn320His) c.1522A>C (p.Asn508His) c.691A>C (p.Asn231His) | |
| 12 | g.51920861A>G | CA384906167 | ACVRL1 | c.1210A>G (p.Asn404Asp) c.1480A>G (p.Asn494Asp) c.958A>G (p.Asn320Asp) c.1522A>G (p.Asn508Asp) c.691A>G (p.Asn231Asp) | |
| 12 | g.51920861A>T | CA384906168 | ACVRL1 | c.1210A>T (p.Asn404Tyr) c.1480A>T (p.Asn494Tyr) c.958A>T (p.Asn320Tyr) c.1522A>T (p.Asn508Tyr) c.691A>T (p.Asn231Tyr) | |
| 12 | g.51920862A>C | CA384906171 | ACVRL1 | c.1211A>C (p.Asn404Thr) c.1481A>C (p.Asn494Thr) c.959A>C (p.Asn320Thr) c.1523A>C (p.Asn508Thr) c.692A>C (p.Asn231Thr) | |
| 12 | g.51920862A>G | CA384906170 | ACVRL1 | c.1211A>G (p.Asn404Ser) c.1481A>G (p.Asn494Ser) c.959A>G (p.Asn320Ser) c.1523A>G (p.Asn508Ser) c.692A>G (p.Asn231Ser) | |
| 12 | g.51920862A>T | CA384906169 | ACVRL1 | c.1211A>T (p.Asn404Ile) c.1481A>T (p.Asn494Ile) c.959A>T (p.Asn320Ile) c.1523A>T (p.Asn508Ile) c.692A>T (p.Asn231Ile) | |
| 12 | g.51920863C>A | CA384906173 | ACVRL1 | c.1212C>A (p.Asn404Lys) c.1482C>A (p.Asn494Lys) c.960C>A (p.Asn320Lys) c.1524C>A (p.Asn508Lys) c.693C>A (p.Asn231Lys) | |
| 12 | g.51920863C>G | CA384906182 | ACVRL1 | c.1212C>G (p.Asn404Lys) c.1482C>G (p.Asn494Lys) c.960C>G (p.Asn320Lys) c.1524C>G (p.Asn508Lys) c.693C>G (p.Asn231Lys) | |
| 12 | g.51920863C>T | CA479817177 | ACVRL1 | c.1212C>T (p.Asn404=) c.1482C>T (p.Asn494=) c.960C>T (p.Asn320=) c.1524C>T (p.Asn508=) c.693C>T (p.Asn231=) | |
| 12 | g.51920864A= | CA2036241982 | ACVRL1 | c.1213A= (p.Ser405=) c.1483A= (p.Ser495=) c.961A= (p.Ser321=) c.1525A= (p.Ser509=) c.694A= (p.Ser232=) | |
| 12 | g.51920864A>C | CA384906186 | ACVRL1 | c.1213A>C (p.Ser405Arg) c.1483A>C (p.Ser495Arg) c.961A>C (p.Ser321Arg) c.1525A>C (p.Ser509Arg) c.694A>C (p.Ser232Arg) | |
| 12 | g.51920864A>G | CA236367787 | ACVRL1 | c.1213A>G (p.Ser405Gly) c.1483A>G (p.Ser495Gly) c.961A>G (p.Ser321Gly) c.1525A>G (p.Ser509Gly) c.694A>G (p.Ser232Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920864A>T | CA384906200 | ACVRL1 | c.1213A>T (p.Ser405Cys) c.1483A>T (p.Ser495Cys) c.961A>T (p.Ser321Cys) c.1525A>T (p.Ser509Cys) c.694A>T (p.Ser232Cys) | |
| 12 | g.51920865G>A | CA384906203 | ACVRL1 | c.1214G>A (p.Ser405Asn) c.1484G>A (p.Ser495Asn) c.962G>A (p.Ser321Asn) c.1526G>A (p.Ser509Asn) c.695G>A (p.Ser232Asn) | |
| 12 | g.51920865G>C | CA384906204 | ACVRL1 | c.1214G>C (p.Ser405Thr) c.1484G>C (p.Ser495Thr) c.962G>C (p.Ser321Thr) c.1526G>C (p.Ser509Thr) c.695G>C (p.Ser232Thr) | |
| 12 | g.51920865G>T | CA384906205 | ACVRL1 | c.1214G>T (p.Ser405Ile) c.1484G>T (p.Ser495Ile) c.962G>T (p.Ser321Ile) c.1526G>T (p.Ser509Ile) c.695G>T (p.Ser232Ile) | |
| 12 | g.51920866T>A | CA384906206 | ACVRL1 | c.1215T>A (p.Ser405Arg) c.1485T>A (p.Ser495Arg) c.963T>A (p.Ser321Arg) c.1527T>A (p.Ser509Arg) c.696T>A (p.Ser232Arg) | |
| 12 | g.51920866T>C | CA479817197 | ACVRL1 | c.1215T>C (p.Ser405=) c.1485T>C (p.Ser495=) c.963T>C (p.Ser321=) c.1527T>C (p.Ser509=) c.696T>C (p.Ser232=) | |
| 12 | g.51920866T>G | CA384906207 | ACVRL1 | c.1215T>G (p.Ser405Arg) c.1485T>G (p.Ser495Arg) c.963T>G (p.Ser321Arg) c.1527T>G (p.Ser509Arg) c.696T>G (p.Ser232Arg) | |
| 12 | g.51920867C>A | CA384906209 | ACVRL1 | c.1216C>A (p.Pro406Thr) c.1486C>A (p.Pro496Thr) c.964C>A (p.Pro322Thr) c.1528C>A (p.Pro510Thr) c.697C>A (p.Pro233Thr) | gnomAD v4 |
| 12 | g.51920867C>G | CA384906218 | ACVRL1 | c.1216C>G (p.Pro406Ala) c.1486C>G (p.Pro496Ala) c.964C>G (p.Pro322Ala) c.1528C>G (p.Pro510Ala) c.697C>G (p.Pro233Ala) | |
| 12 | g.51920867C>T | CA384906219 | ACVRL1 | c.1216C>T (p.Pro406Ser) c.1486C>T (p.Pro496Ser) c.964C>T (p.Pro322Ser) c.1528C>T (p.Pro510Ser) c.697C>T (p.Pro233Ser) | |
| 12 | g.51920868C>A | CA384906222 | ACVRL1 | c.1217C>A (p.Pro406Gln) c.1487C>A (p.Pro496Gln) c.965C>A (p.Pro322Gln) c.1529C>A (p.Pro510Gln) c.698C>A (p.Pro233Gln) | |
| 12 | g.51920868C>G | CA384906226 | ACVRL1 | c.1217C>G (p.Pro406Arg) c.1487C>G (p.Pro496Arg) c.965C>G (p.Pro322Arg) c.1529C>G (p.Pro510Arg) c.698C>G (p.Pro233Arg) | |
| 12 | g.51920868C>T | CA384906220 | ACVRL1 | c.1217C>T (p.Pro406Leu) c.1487C>T (p.Pro496Leu) c.965C>T (p.Pro322Leu) c.1529C>T (p.Pro510Leu) c.698C>T (p.Pro233Leu) | |
| 12 | g.51920869A>C | CA479817217 | ACVRL1 | c.1218A>C (p.Pro406=) c.1488A>C (p.Pro496=) c.966A>C (p.Pro322=) c.1530A>C (p.Pro510=) c.699A>C (p.Pro233=) | |
| 12 | g.51920869A>G | CA479817219 | ACVRL1 | c.1218A>G (p.Pro406=) c.1488A>G (p.Pro496=) c.966A>G (p.Pro322=) c.1530A>G (p.Pro510=) c.699A>G (p.Pro233=) | |
| 12 | g.51920869A>T | CA479817221 | ACVRL1 | c.1218A>T (p.Pro406=) c.1488A>T (p.Pro496=) c.966A>T (p.Pro322=) c.1530A>T (p.Pro510=) c.699A>T (p.Pro233=) | |
| 12 | g.51920870G>A | CA384906230 | ACVRL1 | c.1219G>A (p.Glu407Lys) c.1489G>A (p.Glu497Lys) c.967G>A (p.Glu323Lys) c.1531G>A (p.Glu511Lys) c.700G>A (p.Glu234Lys) | |
| 12 | g.51920870G>C | CA384906235 | ACVRL1 | c.1219G>C (p.Glu407Gln) c.1489G>C (p.Glu497Gln) c.967G>C (p.Glu323Gln) c.1531G>C (p.Glu511Gln) c.700G>C (p.Glu234Gln) | |
| 12 | g.51920870G>T | CA384906232 | ACVRL1 | c.1219G>T (p.Glu407Ter) c.1489G>T (p.Glu497Ter) c.967G>T (p.Glu323Ter) c.1531G>T (p.Glu511Ter) c.700G>T (p.Glu234Ter) |