NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
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_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
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_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
|
rs1638620864
|
|
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
|
|
|
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
|
|
|
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
|
rs139799938
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
|
rs1638446662
|
|
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
|
rs1638446514
|
|
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
|
|
|
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
|
rs1767555126
|
|
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
|
rs1346775255
|
|
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
|
rs1767479902
|
|
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
|
rs1767478925
|
|
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
|
|
|
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
|
|
|
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
|
rs748358807
|
|
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
|
|
|
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
|
|
|
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
|
rs1767285621
|
|
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
|
rs1767240499
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
|
rs1767739242
|
|
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
|
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
|
rs1767726007
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
|
|
|
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
|
rs1767683238
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
|
rs796052007
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.975del (p.Arg326fs)
|
|
|
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
|
rs1767615100
|
|
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
|
|
|
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
|
|
|
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.459del (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
|
|
|
NM_000282.4(PCCA):c.622del (p.Ile208fs)
|
|
|
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
|
|
|
NM_000282.4(PCCA):c.786del (p.Lys262fs)
|
|
|
NM_000282.4(PCCA):c.837del (p.His279fs)
|
|
|
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
|
|
|
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
|
|
|
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
|
|
|
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
|
|
|
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
|
|
|
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
|
|
|
NM_000532.5(PCCB):c.488del (p.Gly163fs)
|
|
|
NM_000532.5(PCCB):c.52del (p.Ala18fs)
|
|
|
NM_000532.5(PCCB):c.809del (p.Asn270fs)
|
|
|
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
|
|
|
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
|
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_002225.5(IVD):c.263del (p.Gly88fs)
|
|
|
NM_002225.5(IVD):c.272del (p.Gly91fs)
|
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
|
|
|
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
|
|
|
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
|
|
|
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
|
|
|
NM_002225.5(IVD):c.693dup (p.Pro232fs)
|
|
|
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
|
|
|
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
|
|
|
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
|
|
|
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
|
|
|
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
|
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
|
|
|
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
|
|
|
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
|
|
|
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
|
|
|
NM_172250.3(MMAA):c.496del (p.Met166fs)
|
|
|
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
|
|
|
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
|
rs1727814966
|
|
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
|
|
|
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
|
|
|
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
|
|
|