NM_000255.4(MMUT):c.1595= (p.Arg532=)
|
rs1141321
|
0.69890
|
NM_000255.4(MMUT):c.636= (p.Lys212=)
|
rs2229384
|
0.41433
|
NM_000255.4(MMUT):c.2011= (p.Ile671=)
|
rs8589
|
0.41022
|
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_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
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_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
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_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
|
rs786205138
|
0.00003
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg)
|
rs864309739
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)
|
rs864309733
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)
|
rs1445523438
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser)
|
rs864309737
|
|
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)
|
rs864309738
|
|
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)
|
rs761773115
|
|
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)
|
rs190834116
|
|
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)
|
rs864309735
|
|
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)
|
rs121918258
|
|
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)
|
rs864309736
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter)
|
rs202247816
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro)
|
rs202247821
|
|
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter)
|
rs202247817
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
|
|
|
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg)
|
rs886041118
|
|
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)
|
rs876657402
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)
|
rs748010262
|
|
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys)
|
rs375934856
|
|
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs)
|
rs886041119
|
|
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn)
|
rs886041120
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)
|
rs786205139
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
|
rs864309740
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
|
rs864309741
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)
|
rs80356526
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)
|
rs376922578
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)
|
rs864309509
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)
|
rs796064514
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|