|
NM_018105.3(THAP1):c.421G>A (p.Asp141Asn)
|
rs138345513
|
0.00045
|
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
|
NM_004279.3(PMPCB):c.524G>A (p.Arg175His)
|
rs200188353
|
0.00005
|
|
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)
|
rs146343535
|
0.00005
|
|
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)
|
rs201634470
|
0.00004
|
|
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys)
|
rs145596167
|
0.00004
|
|
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)
|
rs143492730
|
0.00004
|
|
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)
|
rs1053773776
|
0.00003
|
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
|
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)
|
rs550855238
|
0.00002
|
|
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)
|
rs1281276965
|
0.00001
|
|
NM_004279.3(PMPCB):c.1265T>C (p.Ile422Thr)
|
rs1461200360
|
0.00001
|
|
NM_004483.5(GCSH):c.1A>G (p.Met1Val)
|
rs886039730
|
0.00001
|
|
NFU1, 55.6-KB DEL, EX4-8DEL
|
|
|
|
NG_016427.1:g.(5246_10695)_(10776_13711)del
|
|
|
|
NM_001002755.4(NFU1):c.302+3A>G
|
|
|
|
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)
|
rs2104735490
|
|
|
NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)
|
|
|
|
NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter)
|
rs765132163
|
|
|
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)
|
rs765926471
|
|
|
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)
|
|
|
|
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)
|
rs781627051
|
|
|
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp)
|
rs73095427
|
|
|
NM_001010867.4(IBA57):c.569_579del (p.Arg190fs)
|
|
|
|
NM_001010867.4(IBA57):c.586T>G (p.Trp196Gly)
|
rs1553264669
|
|
|
NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu)
|
rs1553264725
|
|
|
NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter)
|
rs1261081427
|
|
|
NM_001010867.4(IBA57):c.706C>T (p.Pro236Ser)
|
rs769063859
|
|
|
NM_001010867.4(IBA57):c.940C>T (p.Gln314Ter)
|
rs1553264773
|
|
|
NM_001010867.4(IBA57):c.941A>C (p.Gln314Pro)
|
rs587777016
|
|
|
NM_004279.3(PMPCB):c.530T>G (p.Val177Gly)
|
rs1436866272
|
|
|
NM_004483.5(GCSH):c.170A>G (p.His57Arg)
|
|
|
|
NM_004483.5(GCSH):c.293-2_293-1insT
|
|
|
|
NM_004483.5(GCSH):c.293-60_*72dup
|
|
|
|
NM_004483.5(GCSH):c.344C>T (p.Pro115Leu)
|
|
|
|
NM_024417.5(FDXR):c.178-86C>T
|
|
|
|
NM_024417.5(FDXR):c.1A>G (p.Met1Val)
|
rs1323016653
|
|
|
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
|
|
|
|
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
|
rs752675360
|
|
|
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
|
|
|
|
NM_024417.5(FDXR):c.578G>A (p.Arg193His)
|
|
|
|
NM_024417.5(FDXR):c.929del (p.Ser310fs)
|
rs1598515363
|
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
|
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)
|
rs1587823007
|
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
|
NM_194279.4(ISCA2):c.297del (p.Phe99fs)
|
rs778755775
|
|
|
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly)
|
rs767352340
|
|
|
NM_212552.3(BOLA3):c.123dup (p.Glu42fs)
|
rs869320737
|
|
|
NM_212552.3(BOLA3):c.220_222del (p.Glu74del)
|
rs1209052568
|
|
|
c.1002+1G-A
|
|
|