NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_001130004.2(ACTN1):c.2587-26C>T
|
rs752352598
|
0.00018
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)
|
rs551140561
|
0.00003
|
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)
|
rs146846923
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)
|
rs374928728
|
0.00002
|
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)
|
rs371852125
|
0.00002
|
NM_000174.5(GP9):c.212T>C (p.Phe71Ser)
|
rs121918037
|
0.00001
|
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser)
|
rs781502355
|
0.00001
|
NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro)
|
rs750315624
|
0.00001
|
NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs)
|
rs1254692009
|
0.00001
|
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)
|
rs1276647740
|
0.00001
|
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)
|
rs387907350
|
0.00001
|
NC_000022.11:g.19721912_19724790del
|
|
|
NM_000173.7(GP1BA):c.148_149del (p.Thr50fs)
|
rs1597638379
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg)
|
rs1597638430
|
|
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)
|
rs121908063
|
|
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)
|
rs1597638745
|
|
NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser)
|
rs1597638300
|
|
NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg)
|
rs1598694712
|
|
NM_000212.3(ITGB3):c.2015-29_2134+24del
|
rs1598700249
|
|
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)
|
rs121909752
|
|
NM_000407.5(GP1BB):c.203C>T (p.Thr68Met)
|
rs1601248530
|
|
NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg)
|
rs1464643023
|
|
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)
|
rs1601248859
|
|
NM_000407.5(GP1BB):c.3G>C (p.Met1Ile)
|
rs1601247763
|
|
NM_000407.5(GP1BB):c.448del (p.Ala150fs)
|
rs1360071443
|
|
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)
|
rs1601248210
|
|
NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del)
|
rs1601248245
|
|
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)
|
rs1598377980
|
|
NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg)
|
rs1598375569
|
|
NM_000460.4(THPO):c.610dup (p.Glu204fs)
|
rs776536238
|
|
NM_000460.4(THPO):c.805dup (p.Leu269fs)
|
rs1577354471
|
|
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)
|
rs1594771155
|
|
NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser)
|
rs1594771139
|
|
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)
|
rs1594768482
|
|
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr)
|
rs1454176065
|
|
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)
|
rs747559032
|
|
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)
|
rs387907348
|
|
NM_001130004.2(ACTN1):c.1640T>C (p.Leu547Pro)
|
rs1594756590
|
|
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys)
|
rs867564562
|
|
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)
|
rs372031019
|
|
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)
|
rs1594751712
|
|
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)
|
rs387907349
|
|
NM_001130004.2(ACTN1):c.299T>C (p.Ile100Thr)
|
rs1594816590
|
|
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)
|
rs387907345
|
|
NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly)
|
rs1594790030
|
|
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)
|
rs1594773549
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002049.4(GATA1):c.824G>C (p.Gly275Ala)
|
rs1602220740
|
|
NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu)
|
rs1603484050
|
|
NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn)
|
rs777484384
|
|
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala)
|
rs1603482879
|
|
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)
|
rs566978904
|
|
NM_005219.5(DIAPH1):c.3575-50_3661+36inv
|
|
|
NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys)
|
rs1421750582
|
|
NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer)
|
rs1601239696
|
|
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)
|
rs767380935
|
|
NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)
|
rs1601238563
|
|
NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)
|
rs778975827
|
|
NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu)
|
rs1601238822
|
|
NM_030773.4(TUBB1):c.704del (p.Gly235fs)
|
rs770554119
|
|
NM_030773.4(TUBB1):c.752G>A (p.Arg251His)
|
rs770226644
|
|
NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp)
|
rs1601239213
|
|