NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln)
|
rs148337492
|
0.00006
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
0.00003
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)
|
rs746502208
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)
|
rs1577598082
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp)
|
rs1564060049
|
|
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu)
|
rs1587670538
|
|
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln)
|
rs1564076641
|
|
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)
|
rs1568504395
|
|
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)
|
rs556548077
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)
|
rs1556794074
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu)
|
rs1581280139
|
|