NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu)
|
rs199804679
|
0.00001
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs)
|
rs387906394
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)
|
rs28936399
|
|
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn)
|
rs121909286
|
|
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)
|
rs121909284
|
|
NM_000020.3(ACVRL1):c.1378-216C>G
|
rs111710113
|
|
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)
|
rs387906392
|
|
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_001114753.3(ENG):c.1238G>T (p.Gly413Val)
|
rs121918401
|
|
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
|
rs2131875838
|
|
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)
|
rs267606783
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)
|
rs121918402
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del)
|
rs2131886961
|
|
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)
|
rs397514698
|
|
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr)
|
rs137853217
|
|
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs)
|
rs1580386963
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_002890.3(RASA1):c.829-9G>A
|
rs1348578241
|
|
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)
|
rs137853218
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)
|
rs776410552
|
|
NM_004444.5(EPHB4):c.2484+1G>A
|
rs927772349
|
|
NM_004444.5(EPHB4):c.2484+1G>T
|
rs927772349
|
|
NM_004444.5(EPHB4):c.2484+2dup
|
rs1584653620
|
|
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)
|
rs1562974383
|
|
NM_004444.5(EPHB4):c.33del (p.Leu12fs)
|
rs1562976493
|
|
NM_004444.5(EPHB4):c.570dup (p.His191fs)
|
rs1562973614
|
|
NM_004444.5(EPHB4):c.632_633del (p.Val211fs)
|
rs1562973541
|
|
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)
|
rs201816920
|
|
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)
|
rs200330818
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|