|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
|
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)
|
rs77305684
|
0.00027
|
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
|
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)
|
rs587777778
|
0.00019
|
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
|
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys)
|
rs749113504
|
0.00009
|
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
|
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln)
|
rs369223978
|
0.00005
|
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
|
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)
|
rs143492730
|
0.00004
|
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
|
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)
|
rs1697439559
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00001
|
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
|
NC_000017.11:g.3600934_3658165del
|
|
|
|
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
|
|
|
|
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)
|
rs770961747
|
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
|
NM_000273.3(GPR143):c.36del (p.Thr13fs)
|
|
|
|
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
|
|
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
|
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
|
|
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
|
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
|
rs2062620327
|
|
|
NM_000372.5(TYR):c.1237del (p.Glu413fs)
|
rs1565423615
|
|
|
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)
|
rs1581166539
|
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
|
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
|
rs72558415
|
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
|
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
|
|
|
|
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
|
|
|
|
NM_001010867.4(IBA57):c.292del (p.His98fs)
|
|
|
|
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)
|
rs749973223
|
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
|
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
|
rs1225304963
|
|
|
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
|
|
|
|
NM_001244926.2(PRPF4):c.750-11G>A
|
|
|
|
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
|
|
|
|
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
|
|
|
|
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
|
rs2053946125
|
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
|
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
|
|
|
|
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
|
|
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
|
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)
|
rs2138739035
|
|
|
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
|
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)
|
rs2140853464
|
|
|
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
|
|
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
|
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
|
|
|
|
NM_001985.3(ETFB):c.136del (p.Val46fs)
|
|
|
|
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
|
|
|
|
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)
|
rs1085307804
|
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
|
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)
|
|
|
|
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)
|
|
|
|
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
|
|
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
|
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)
|
rs1649507829
|
|
|
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
|
|
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
|
NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)
|
|
|
|
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val)
|
rs1653132966
|
|
|
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile)
|
rs1652875135
|
|
|
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
|
|
|
|
NM_005957.5(MTHFR):c.1166+5G>C
|
rs1483632178
|
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
|
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)
|
rs2100495013
|
|
|
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter)
|
rs773363890
|
|
|
NM_006623.4(PHGDH):c.1210-2A>G
|
rs2101224430
|
|
|
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
|
|
|
|
NM_012418.4(FSCN2):c.1106-25G>A
|
|
|
|
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)
|
rs2135923855
|
|
|
NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val)
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NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
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NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys)
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NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)
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rs866688232
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NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
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NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
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rs80338719
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NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)
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NM_015629.4(PRPF31):c.946-2A>G
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rs2073961843
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NM_015662.3(IFT172):c.786-2A>T
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NM_016373.4(WWOX):c.606-1778_792-2744del
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NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
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NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser)
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NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
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NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
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NM_058179.4(PSAT1):c.1004A>T (p.His335Leu)
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NM_183050.4(BCKDHB):c.272del (p.Ala91fs)
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rs2127726212
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NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
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rs569826109
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NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
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rs869312180
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