|
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)
|
rs35071969
|
0.01288
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
|
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)
|
rs146488112
|
0.00073
|
|
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)
|
rs201343662
|
0.00060
|
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys)
|
rs749199519
|
0.00004
|
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
|
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu)
|
rs528903842
|
0.00002
|
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_001130823.3(DNMT1):c.2493C>G (p.Phe831Leu)
|
rs2038289703
|
0.00001
|
|
NM_001395333.1(MTCL1):c.1777C>T (p.Arg593Cys)
|
rs758581749
|
0.00001
|
|
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)
|
rs757752994
|
0.00001
|
|
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)
|
rs1176487325
|
0.00001
|
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
|
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro)
|
rs1057518589
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)
|
rs16054
|
|
|
NM_001365792.1(DAB1):c.-136-4G>T
|
|
|
|
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg)
|
rs2125373123
|
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
|
NM_001395333.1(MTCL1):c.828G>A (p.Ala276=)
|
|
|
|
NM_001447.3(FAT2):c.8147T>C (p.Val2716Ala)
|
|
|
|
NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala)
|
|
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
|
NM_005861.4(STUB1):c.728C>G (p.Pro243Arg)
|
|
|
|
NM_005861.4(STUB1):c.746G>T (p.Gly249Val)
|
rs2151506587
|
|
|
NM_006297.3(XRCC1):c.209_233dup (p.Glu81fs)
|
|
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
|
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)
|
rs2135526204
|
|
|
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)
|
rs1555250395
|
|
|
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro)
|
rs150900362
|
|
|
NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)
|
|
|
|
NM_014363.6(SACS):c.260G>A (p.Gly87Asp)
|
|
|
|
NM_014363.6(SACS):c.3782A>G (p.Asp1261Gly)
|
|
|
|
NM_015378.4(VPS13D):c.12846A>C (p.Lys4282Asn)
|
|
|
|
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)
|
rs151332868
|
|
|
NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)
|
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
|
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)
|
rs2134268636
|
|
|
NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)
|
|
|
|
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
|
|
|
|
NM_018896.5(CACNA1G):c.4181G>A (p.Arg1394Gln)
|
|
|
|
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr)
|
rs1264876481
|
|