NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His)
|
rs201111610
|
0.00092
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)
|
rs142289138
|
0.00062
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr)
|
rs145535698
|
0.00024
|
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)
|
rs146064054
|
0.00021
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)
|
rs116373975
|
0.00013
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu)
|
rs372193709
|
0.00009
|
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)
|
rs201894064
|
0.00006
|
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)
|
rs377390031
|
0.00006
|
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)
|
rs746283445
|
0.00006
|
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)
|
rs782193139
|
0.00005
|
NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu)
|
rs1060499719
|
0.00005
|
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)
|
rs730880596
|
0.00004
|
NM_001110556.2(FLNA):c.2023-6C>T
|
rs372021340
|
0.00004
|
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)
|
rs745352643
|
0.00003
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His)
|
rs1060499723
|
0.00002
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser)
|
rs764575721
|
0.00001
|
NM_024570.4(RNASEH2B):c.136+8C>T
|
rs891972892
|
0.00001
|
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr)
|
rs369505684
|
0.00001
|
NM_000124.4(ERCC6):c.2418C>G (p.Cys806Trp)
|
rs375810438
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_001110556.2(FLNA):c.623-20_623-12del
|
rs786205200
|
|
NM_001134407.3(GRIN2A):c.1778-3C>T
|
rs1060499722
|
|
NM_001370658.1(BTD):c.164C>A (p.Ala55Asp)
|
rs1060499720
|
|
NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup)
|
rs767103634
|
|
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly)
|
rs144234059
|
|
NM_021971.4(GMPPB):c.529A>G (p.Ile177Val)
|
rs1060499721
|
|