NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)
|
rs141764916
|
0.00016
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)
|
rs999380946
|
0.00001
|
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser)
|
rs1060503247
|
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NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)
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rs1060503247
|
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NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu)
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rs1565594467
|
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NM_000020.3(ACVRL1):c.1030_1048+18del
|
rs1940812948
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NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
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|
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NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
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NM_000020.3(ACVRL1):c.1048+5G>A
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NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
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|
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NM_000020.3(ACVRL1):c.1049-1G>A
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rs1060503242
|
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NM_000020.3(ACVRL1):c.1049-1G>T
|
rs1060503242
|
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NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
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|
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NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)
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rs2139064443
|
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NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
|
rs28936401
|
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NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro)
|
rs1060503248
|
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NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe)
|
rs1085307416
|
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NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
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NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
|
rs1940833669
|
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NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
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NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
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NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)
|
rs1085307417
|
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NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
|
rs1592225036
|
|
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)
|
rs1592225044
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
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NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)
|
rs2139077046
|
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NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
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NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly)
|
rs1565595121
|
|
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)
|
rs1184716348
|
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NM_000020.3(ACVRL1):c.1231_1246+4dup
|
rs1940838178
|
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NM_000020.3(ACVRL1):c.1247-1G>C
|
rs2139083899
|
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NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
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|
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NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)
|
rs1085307419
|
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NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)
|
rs1555153828
|
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NM_000020.3(ACVRL1):c.1378-1G>A
|
rs1060503237
|
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NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
|
rs1940955941
|
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NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
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NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)
|
rs1555152468
|
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NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)
|
rs1555152468
|
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NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
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NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)
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rs2139064874
|
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NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
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NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
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NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)
|
rs1555152520
|
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NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)
|
rs1060503234
|
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NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)
|
rs1592221930
|
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NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)
|
rs863223410
|
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NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
|
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NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
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|
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NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
|
|
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NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)
|
rs1288729113
|
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NM_000020.3(ACVRL1):c.61+1G>A
|
|
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NM_000020.3(ACVRL1):c.61+1G>T
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NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
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NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
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|
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NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
|
rs1940782891
|
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NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
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|
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NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys)
|
rs2139072795
|
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NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
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NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
|
|
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NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
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NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
|
rs1940804969
|
|
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
|
rs1940807179
|
|
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)
|
rs565262730
|
|
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
|
|
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NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
|
|
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NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys)
|
rs2139073944
|
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