NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys)
|
rs151236121
|
0.00101
|
NM_177972.3(TUB):c.1388-10T>G
|
rs150402974
|
0.00097
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
NM_177972.3(TUB):c.358G>A (p.Gly120Ser)
|
rs146650842
|
0.00043
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met)
|
rs145250153
|
0.00032
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
NM_000156.6(GAMT):c.570+4C>T
|
rs199967562
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
NM_177972.3(TUB):c.364G>A (p.Ala122Thr)
|
rs201324153
|
0.00021
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)
|
rs149104855
|
0.00014
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
NM_177972.3(TUB):c.451G>A (p.Val151Met)
|
rs767402711
|
0.00006
|
NM_177972.3(TUB):c.164G>A (p.Arg55Gln)
|
rs371844684
|
0.00005
|
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)
|
rs775671027
|
0.00004
|
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val)
|
rs139300551
|
0.00004
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val)
|
rs745820508
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn)
|
rs368907491
|
0.00004
|
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr)
|
rs1971327716
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_005763.4(AASS):c.1393C>G (p.Leu465Val)
|
rs1011506361
|
0.00003
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)
|
rs371146552
|
0.00002
|
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly)
|
rs761226286
|
0.00002
|
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)
|
rs770733075
|
0.00002
|
NM_177972.3(TUB):c.1159G>A (p.Val387Met)
|
rs1214536528
|
0.00002
|
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys)
|
rs139170512
|
0.00002
|
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile)
|
rs761726968
|
0.00001
|
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)
|
rs1340140743
|
0.00001
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)
|
rs140355579
|
0.00001
|
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His)
|
rs1459691759
|
0.00001
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
NM_003042.4(SLC6A1):c.582-3C>T
|
rs368174761
|
0.00001
|
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr)
|
rs956332291
|
0.00001
|
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp)
|
rs1167788931
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys)
|
rs148307049
|
0.00001
|
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)
|
rs760562906
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NC_000015.10:g.51681311_51791472dup
|
|
|
NC_000016.10:g.77893032_78561479dup
|
|
|
NC_000020.11:g.49212886_49410642dup
|
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000170.3(GLDC):c.861+5G>A
|
rs192663616
|
|
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)
|
rs1664588529
|
|
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)
|
rs2147476513
|
|
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile)
|
rs1373139216
|
|
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001127222.2(CACNA1A):c.1199-7T>A
|
rs2145126181
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)
|
rs2057414205
|
|
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)
|
rs1476884019
|
|
NM_001127222.2(CACNA1A):c.3822+70A>G
|
rs1462524553
|
|
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)
|
rs1417890059
|
|
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)
|
rs2144488387
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001278293.3(ARL6):c.254+1371G>A
|
|
|
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)
|
rs2138748384
|
|
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3820-1G>T
|
rs1373881732
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)
|
rs751318676
|
|
NM_002860.4(ALDH18A1):c.89-1G>C
|
rs2139642879
|
|
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg)
|
rs2124942534
|
|
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)
|
rs1334690406
|
|
NM_003124.5(SPR):c.10G>A (p.Gly4Arg)
|
rs2105239914
|
|
NM_004113.6(FGF12):c.125-3181A>G
|
rs1577367655
|
|
NM_004113.6(FGF12):c.14-47649A>G
|
rs2108776132
|
|
NM_004113.6(FGF12):c.145G>C (p.Val49Leu)
|
rs199832838
|
|
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)
|
rs2108576388
|
|
NM_004408.4(DNM1):c.2535-613C>T
|
rs1385389663
|
|
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
|
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)
|
rs2133874774
|
|
NM_005271.5(GLUD1):c.446-5634T>C
|
rs1841280208
|
|
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
|
rs2065362050
|
|
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp)
|
rs2151060004
|
|
NM_012213.3(MLYCD):c.[*130G>T;*220A>G*286G>T*504C>A*82C>G]
|
|
|
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)
|
rs779603114
|
|
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
|
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)
|
rs199511589
|
|
NM_018233.4(OGFOD1):c.1467+11_1467+13del
|
|
|
NM_021072.4(HCN1):c.1377+19834C>T
|
rs761223261
|
|
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)
|
rs2111839334
|
|
NM_021072.4(HCN1):c.849+66420G>T
|
rs986310668
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr)
|
rs1597676768
|
|
NM_177972.3(TUB):c.115AAG[2] (p.Lys41del)
|
rs749961508
|
|
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)
|
|
|
NM_177972.3(TUB):c.293C>T (p.Ala98Val)
|
rs909748733
|
|
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
|
|
|
NM_177972.3(TUB):c.728C>T (p.Pro243Leu)
|
rs1944038804
|
|
NM_177972.3(TUB):c.885+7T>C
|
rs776753352
|
|