NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_020919.4(ALS2):c.-60-2A>G
|
rs532217889
|
0.00006
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)
|
rs374823079
|
0.00004
|
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter)
|
rs1476453955
|
0.00003
|
NM_001003841.3(SLC6A19):c.774+1G>A
|
rs554777392
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
NM_020549.5(CHAT):c.1288G>A (p.Val430Met)
|
rs745991038
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_178452.6(DNAAF1):c.1528+2T>C
|
rs569633512
|
0.00001
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000266.4(NDP):c.112C>T (p.Arg38Cys)
|
rs758550101
|
|
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)
|
rs2152697481
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000448.3(RAG1):c.140del (p.Lys47fs)
|
rs2133292794
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001080510.5(METTL23):c.238del (p.Thr80fs)
|
rs1327060248
|
|
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)
|
rs771819481
|
|
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)
|
rs1554310600
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.606-8A>G
|
rs2104648140
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu)
|
rs777874668
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
|
rs2066482593
|
|
NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser)
|
rs2147356322
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu)
|
rs2125436283
|
|
NM_003482.4(KMT2D):c.1258+5G>A
|
rs2120689175
|
|
NM_004187.5(KDM5C):c.1793C>T (p.Pro598Leu)
|
rs1556842216
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_005208.5(CRYBA1):c.500+1G>C
|
rs775038545
|
|
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
|
rs794727798
|
|
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)
|
rs1057517908
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs)
|
rs1356107030
|
|
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)
|
rs1595600383
|
|
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter)
|
rs2142303290
|
|
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)
|
rs587784155
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|