|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
|
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)
|
rs200781463
|
0.00113
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
|
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)
|
rs201030692
|
0.00057
|
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
|
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser)
|
rs374795191
|
0.00014
|
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
|
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)
|
rs746295635
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
|
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)
|
rs137870998
|
0.00004
|
|
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
|
rs1478296366
|
0.00004
|
|
NM_001510.4(GRID2):c.899G>A (p.Arg300His)
|
rs201635818
|
0.00003
|
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
|
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)
|
rs1203128651
|
0.00001
|
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
|
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)
|
rs2037067131
|
0.00001
|
|
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr)
|
rs752677090
|
0.00001
|
|
NM_007289.4(MME):c.1706A>C (p.Gln569Pro)
|
rs1326179984
|
0.00001
|
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
|
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser)
|
rs1429339677
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
|
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)
|
rs1643312973
|
|
|
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg)
|
rs1891910013
|
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
|
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)
|
rs374149596
|
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
|
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)
|
rs1674966041
|
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
|
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val)
|
rs1363769217
|
|
|
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
|
|
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
|
NM_001510.4:c.1246-278_2193+35240del
|
|
|
|
NM_001510.4:c.790-271_1245+268del
|
|
|
|
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)
|
|
|
|
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)
|
rs1432381387
|
|
|
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.646dup (p.Ser216fs)
|
rs1555475283
|
|
|
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)
|
rs1908967089
|
|
|
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)
|
rs1940076270
|
|
|
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter)
|
rs2079032507
|
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
|
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
|
rs1868847058
|
|
|
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
|
rs1868573738
|
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
|
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
|
rs2150160765
|
|
|
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)
|
rs1436479178
|
|
|
NM_018896.5(CACNA1G):c.354+5GT[13]
|
rs3833150
|
|
|
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter)
|
rs2050911351
|
|
|
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1])
|
rs751210873
|
|
|
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)
|
rs61995958
|
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
|
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala)
|
rs1792213890
|
|
|
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)
|
rs577577749
|
|
|
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)
|
rs2140757755
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
|
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr)
|
rs1265293202
|
|