NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
NM_198514.4(NHLRC2):c.442G>T (p.Asp148Tyr)
|
rs201701259
|
0.00045
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00022
|
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
|
rs202146344
|
0.00017
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
0.00009
|
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)
|
rs121918237
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_016356.5(DCDC2):c.349-2A>G
|
rs760040426
|
0.00003
|
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys)
|
rs869312813
|
0.00003
|
NM_001177316.2(SLC34A3):c.1335+2T>A
|
rs752222200
|
0.00002
|
NM_000168.6(GLI3):c.1028+1G>A
|
rs1375768446
|
0.00001
|
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)
|
rs1176654400
|
0.00001
|
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)
|
rs147475752
|
0.00001
|
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)
|
rs780720490
|
0.00001
|
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)
|
rs142934146
|
0.00001
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter)
|
rs1422519039
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_198514.4(NHLRC2):c.148C>T (p.Gln50Ter)
|
rs1425674152
|
0.00001
|
NC_000002.12:g.142877008_142961693del
|
|
|
NC_000008.10:g.100246250_100460500del
|
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3890G>A
|
rs587776434
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000069.3(CACNA1S):c.1252_1253del (p.Asn418fs)
|
|
|
NM_000074.3(CD40LG):c.161_162insG (p.Asp55fs)
|
|
|
NM_000088.4(COL1A1):c.1614+1G>A
|
rs72648357
|
|
NM_000088.4(COL1A1):c.4006-1G>A
|
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)
|
rs587779489
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs)
|
rs2128732140
|
|
NM_000168.6(GLI3):c.1133dup (p.Pro379fs)
|
rs2128732074
|
|
NM_000168.6(GLI3):c.1793dup (p.Asn598fs)
|
rs2128712235
|
|
NM_000168.6(GLI3):c.1880_1881del (p.His627fs)
|
rs2128710014
|
|
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)
|
rs781422192
|
|
NM_000168.6(GLI3):c.2059del (p.Glu687fs)
|
rs2128709905
|
|
NM_000168.6(GLI3):c.2103+2T>A
|
rs2128709879
|
|
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)
|
rs121917714
|
|
NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter)
|
rs2128706319
|
|
NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs)
|
rs2128705420
|
|
NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter)
|
rs1366557334
|
|
NM_000168.6(GLI3):c.4172del (p.Gly1391fs)
|
rs2128705042
|
|
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter)
|
rs2128742651
|
|
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)
|
rs730880720
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000494.4(COL17A1):c.3686dup (p.Val1231fs)
|
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)
|
rs1801086
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001032221.6(STXBP1):c.579-1G>C
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)
|
rs1057521059
|
|
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)
|
rs1554329216
|
|
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
|
|
|
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)
|
rs587783590
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
|
|
|
NM_001356.5(DDX3X):c.1395_1399del (p.Tyr466fs)
|
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
|
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter)
|
rs1554792556
|
|
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs)
|
rs1388355040
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001376.5(DYNC1H1):c.3624G>T (p.Trp1208Cys)
|
|
|
NM_001379291.1(BRD4):c.2239C>T (p.Gln747Ter)
|
|
|
NM_001385079.1(PDE10A):c.1696T>C (p.Phe566Leu)
|
rs875989841
|
|
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs)
|
rs1969545531
|
|
NM_001606.5(ABCA2):c.6630_6630+1del
|
|
|
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
|
|
|
NM_001792.5(CDH2):c.1344+1G>A
|
rs2143975765
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
|
|
|
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)
|
rs2104803395
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002890.3(RASA1):c.2239C>T (p.Gln747Ter)
|
|
|
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
|
|
|
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
|
rs782349178
|
|
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)
|
rs1565756115
|
|
NM_003482.4(KMT2D):c.3539C>A (p.Ser1180Ter)
|
rs750754763
|
|
NM_003638.3(ITGA8):c.2804dup (p.Val936fs)
|
|
|
NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs)
|
rs2136153237
|
|
NM_004035.7(ACOX1):c.320del (p.Phe107fs)
|
rs2065875711
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
|
|
|
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
|
|
|
NM_004750.5(CRLF1):c.713del (p.Pro238fs)
|
|
|
NM_004826.4(ECEL1):c.1672del (p.Val558fs)
|
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs)
|
rs2033035924
|
|
NM_005032.7(PLS3):c.1512-1G>T
|
rs2147590595
|
|
NM_005032.7(PLS3):c.672_673del (p.His225fs)
|
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
|
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006045.3(ATP9A):c.868C>T (p.Arg290Ter)
|
|
|
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)
|
|
|
NM_006765.4(TUSC3):c.420dup (p.Gln141fs)
|
rs773426468
|
|
NM_007059.4(KPTN):c.599+1G>A
|
|
|
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
|
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
|
rs929007085
|
|
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)
|
rs1555528354
|
|
NM_013275.6(ANKRD11):c.7470+5G>C
|
|
|
NM_014727.3(KMT2B):c.5741_5748dup (p.Ser1917fs)
|
|
|
NM_015355.4(SUZ12):c.156C>G (p.Tyr52Ter)
|
|
|
NM_015559.3(SETBP1):c.44dup (p.Glu16fs)
|
rs1231303606
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_016648.4(LARP7):c.834dup (p.Arg279fs)
|
rs763929099
|
|
NM_016648.4(LARP7):c.931_950del (p.Lys311fs)
|
|
|
NM_017662.5(TRPM6):c.1437C>A (p.Tyr479Ter)
|
|
|
NM_018238.4(AGK):c.523_524del (p.Ile175fs)
|
rs1228071168
|
|
NM_018238.4(AGK):c.628C>T (p.Arg210Ter)
|
|
|
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
|
|
|
NM_018714.3(COG1):c.1070+5G>A
|
rs1568296260
|
|
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
|
rs387907209
|
|
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)
|
|
|
NM_021224.6(ZNF462):c.3111dup (p.Ala1038fs)
|
|
|
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs)
|
rs1554197794
|
|
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)
|
|
|
NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs)
|
rs1649037695
|
|
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
|
|
|
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)
|
|
|
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)
|
|
|
NM_031263.4(HNRNPK):c.402+1G>A
|
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_033419.5(PGAP3):c.402dup (p.Met135fs)
|
rs869312812
|
|
NM_033419.5(PGAP3):c.439dup (p.Leu147fs)
|
rs869312815
|
|
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg)
|
rs869312816
|
|
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro)
|
rs869312817
|
|
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)
|
rs869312814
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs)
|
rs772394714
|
|
NM_078629.4(MSL3):c.1282-249_1382-154del
|
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer)
|
rs2135882474
|
|
NM_133368.3(RSPRY1):c.358G>T (p.Glu120Ter)
|
|
|
NM_152564.5(VPS13B):c.3446-23T>G
|
rs2133510569
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs)
|
rs886037717
|
|
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
|
rs1057518092
|
|
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)
|
rs1562927768
|
|
Single allele
|
|
|
m.10197G>A
|
rs267606891
|
|
m.13513G>A
|
rs267606897
|
|