NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_025136.4(OPA3):c.-7C>G
|
rs199590627
|
0.00041
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)
|
rs762180740
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)
|
rs374175877
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
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_000191.3(HMGCL):c.3G>T (p.Met1Ile)
|
rs1302190999
|
0.00003
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00003
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
0.00003
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)
|
rs200596762
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)
|
rs759861826
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)
|
rs757884073
|
0.00001
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)
|
rs886061559
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.1957-2A>G
|
rs1554158379
|
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.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
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.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)
|
rs758345818
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
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.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)
|
rs1553133042
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.413del (p.Asn138fs)
|
rs1553132520
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
NM_000191.3(HMGCL):c.60+1G>T
|
rs1324641233
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)
|
rs1553131921
|
|
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)
|
rs765198174
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)
|
rs1553131326
|
|
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)
|
rs1553131320
|
|
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)
|
rs1303767209
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1156C>A (p.His386Asn)
|
rs1554159937
|
|
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)
|
rs576536579
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)
|
rs1238333040
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)
|
rs1554158951
|
|
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)
|
rs1554158775
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)
|
rs1554158377
|
|
NM_000255.4(MMUT):c.1990del (p.Ala664fs)
|
rs1554158372
|
|
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)
|
rs1554158325
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)
|
rs1554160986
|
|
NM_000255.4(MMUT):c.29dup (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
|
rs121918253
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.41A>T (p.His14Leu)
|
rs886061561
|
|
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)
|
rs1554160730
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)
|
rs1554160637
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1102G>C (p.Asp368His)
|
rs1555411121
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)
|
rs11539554
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040+1G>T
|
rs1555327732
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)
|
rs1024773388
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-2A>C
|
rs1553784684
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)
|
rs775563122
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1503del (p.Phe501fs)
|
rs1553785139
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)
|
rs1553785152
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)
|
rs1553785169
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.196del (p.Ala66fs)
|
rs1553774018
|
|
NM_000532.5(PCCB):c.292_294del (p.Asp98del)
|
rs1307067547
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.373-1243G>A
|
rs1184391176
|
|
NM_000532.5(PCCB):c.373-1271del
|
rs1553774493
|
|
NM_000532.5(PCCB):c.373-1281G>A
|
rs1553774486
|
|
NM_000532.5(PCCB):c.373-1297_373-1295del
|
rs1553774476
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)
|
rs1313783374
|
|
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)
|
rs1553777571
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)
|
rs779033674
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.654+1G>C
|
rs1553777590
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.763+1G>A
|
rs1553778912
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.884+1G>C
|
rs1553779458
|
|
NM_000532.5(PCCB):c.885-2A>G
|
rs1553780163
|
|
NM_000532.5(PCCB):c.966+1G>T
|
rs1385850128
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_001017989.3(OPA3):c.221del (p.Gly74fs)
|
rs779350552
|
|
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)
|
rs763348163
|
|
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)
|
rs780614894
|
|
NM_001017989.3(OPA3):c.268_270del (p.Phe90del)
|
rs755084544
|
|
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)
|
rs1225701554
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001017989.3(OPA3):c.380del (p.Gly127fs)
|
rs1555730165
|
|
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)
|
rs1555730159
|
|
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)
|
rs1599947088
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)
|
rs1555730157
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)
|
rs1555730136
|
|
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)
|
rs375580763
|
|
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)
|
rs1555730133
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)
|
rs760612966
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.250-1G>T
|
rs1553653053
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)
|
rs1553162857
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
|
rs1553162868
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)
|
rs1553162931
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.574del (p.Leu192fs)
|
rs1553162943
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)
|
rs755881820
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC
|
rs886054542
|
|
NM_025136.4(OPA3):c.100dup (p.Ser34fs)
|
rs1555736803
|
|
NM_025136.4(OPA3):c.142+1G>A
|
rs1555736793
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)
|
rs1555732942
|
|
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)
|
rs1555736840
|
|
NM_025136.4(OPA3):c.331_333del (p.Lys111del)
|
rs1353357190
|
|
NM_025136.4(OPA3):c.334del (p.Glu112fs)
|
rs1555732911
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup)
|
rs1363616568
|
|
NM_025136.4(OPA3):c.431del (p.Pro144fs)
|
rs1205708262
|
|
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del)
|
rs745544229
|
|
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)
|
rs1057516497
|
|
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)
|
rs1555736814
|
|
NM_052845.4(MMAB):c.107del (p.Gly36fs)
|
rs1555276160
|
|
NM_052845.4(MMAB):c.197-2del
|
rs1555275604
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)
|
rs1555274493
|
|
NM_052845.4(MMAB):c.583_584+18del
|
rs1555274484
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)
|
rs1553959122
|
|
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)
|
rs999844958
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)
|
rs1553957862
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.1A>G (p.Met1Val)
|
rs1553957856
|
|
NM_172250.3(MMAA):c.206del (p.Thr69fs)
|
rs1553957901
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)
|
rs1553958153
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.562+1G>T
|
rs869320656
|
|
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)
|
rs1553958395
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)
|
rs1553958720
|
|
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)
|
rs751717131
|
|
NM_172250.3(MMAA):c.970-2A>T
|
rs1553959113
|
|