NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)
|
rs768935968
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.798del (p.Ala267fs)
|
rs1575029897
|
|
NM_001609.4(ACADSB):c.1128+20_1128+26dup
|
rs10571424
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_020166.5(MCCC1):c.273+53A>C
|
rs3732604
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|