|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
|
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)
|
rs144962740
|
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
|
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)
|
rs1360324926
|
|
|
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)
|
rs797044955
|
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
|
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly)
|
rs1601098237
|
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
|
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)
|
rs397514749
|
|
|
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)
|
rs1576691273
|
|
|
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)
|
rs2149989087
|
|
|
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala)
|
rs786205212
|
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
|
NM_181882.3(PRX):c.3587del (p.Gly1196fs)
|
rs1317590341
|
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
|
NM_198994.3(TGM6):c.1967+59AG[2]
|
rs60388755
|
|