NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)
|
rs772697259
|
0.00008
|
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)
|
rs767584322
|
0.00003
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)
|
rs368143665
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
|
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
|
rs2038416963
|
|
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)
|
rs1599341718
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.823dup (p.Leu275fs)
|
rs2039704361
|
|
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)
|
rs1598832568
|
|
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)
|
rs541484241
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)
|
rs1590911156
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
|
|
|
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)
|
rs2096780961
|
|
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)
|
rs779850187
|
|
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)
|
rs756025227
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)
|
rs1405576707
|
|
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)
|
rs2079693628
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
|
|
|
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)
|
rs767406263
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
|
rs557939077
|
|
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
|
|
|
NM_182961.4(SYNE1):c.4310+1G>A
|
|
|
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|