NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_016011.4(MECR):c.772C>T (p.Arg258Trp)
|
rs145192716
|
0.00006
|
NM_004279.3(PMPCB):c.524G>A (p.Arg175His)
|
rs200188353
|
0.00005
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)
|
rs1305711807
|
0.00001
|
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)
|
rs1449758112
|
0.00001
|
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)
|
rs1354126704
|
0.00001
|
NM_001002755.4(NFU1):c.545+5G>A
|
rs756085990
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)
|
rs758183257
|
0.00001
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)
|
rs761917087
|
0.00001
|
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
|
|
|
NC_000001.11:g.29203234del
|
rs1574315873
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)
|
rs1601552154
|
|
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
|
|
|
NM_000161.3(GCH1):c.631_632del (p.Met211fs)
|
rs886039379
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg)
|
rs1026703654
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000274.4(OAT):c.772-1G>A
|
rs770390524
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)
|
rs2135485868
|
|
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)
|
rs398123000
|
|
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)
|
rs1057519540
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)
|
rs1553518389
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_005518.4(HMGCS2):c.1017-2del
|
rs1553240165
|
|
NM_005518.4(HMGCS2):c.772del (p.Ser258fs)
|
rs1553240525
|
|
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
|
|
|
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)
|
rs397515559
|
|
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)
|
rs1060502808
|
|
NM_006003.3(UQCRFS1):c.215-1G>C
|
rs1568344751
|
|
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)
|
rs1568346416
|
|
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)
|
rs1242465339
|
|
NM_006269.2(RP1):c.3157del (p.Tyr1053fs)
|
rs748709396
|
|
NM_006915.3(RP2):c.450G>A (p.Trp150Ter)
|
rs1924906177
|
|
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
|
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|