NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
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_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)
|
rs144994895
|
0.00087
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)
|
rs751413984
|
0.00001
|
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)
|
rs1445523438
|
0.00001
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
GRCh37/hg19 2q13(chr2:112658687-112833108)x1
|
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys)
|
rs1759244067
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
|
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
|
rs764867016
|
|
NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro)
|
rs373946784
|
|
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His)
|
rs786205865
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter)
|
rs1064795098
|
|
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn)
|
rs747844549
|
|
NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter)
|
rs1554671322
|
|
NM_016011.4(MECR):c.-39G>C
|
rs749435497
|
|
NM_020686.6(ABAT):c.448-1G>T
|
rs1555491838
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)
|
rs376922578
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|