NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
|
rs146146070
|
0.00044
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)
|
rs149432418
|
0.00031
|
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
rs151196994
|
0.00019
|
NM_004990.4(MARS1):c.1369-7A>C
|
rs377050640
|
0.00016
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
NM_004990.4(MARS1):c.2415G>A (p.Leu805=)
|
rs374963162
|
0.00014
|
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)
|
rs11540809
|
0.00014
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu)
|
rs147637407
|
0.00009
|
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)
|
rs769544594
|
0.00009
|
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu)
|
rs148245567
|
0.00009
|
NM_004990.4(MARS1):c.298C>G (p.Leu100Val)
|
rs200701235
|
0.00009
|
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn)
|
rs760487210
|
0.00008
|
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
rs748377952
|
0.00008
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu)
|
rs765690389
|
0.00006
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392
|
0.00006
|
NM_004990.4(MARS1):c.1091+2dup
|
rs754216322
|
0.00005
|
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val)
|
rs759198038
|
0.00005
|
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu)
|
rs778475853
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp)
|
rs369861995
|
0.00005
|
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser)
|
rs763613524
|
0.00005
|
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu)
|
rs562565076
|
0.00004
|
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
rs779123068
|
0.00004
|
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp)
|
rs551633010
|
0.00004
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075
|
0.00004
|
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys)
|
rs368028253
|
0.00004
|
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter)
|
rs768234938
|
0.00004
|
NM_004990.4(MARS1):c.266C>T (p.Ala89Val)
|
rs781061568
|
0.00004
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530
|
0.00004
|
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr)
|
rs764006401
|
0.00004
|
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile)
|
rs759101321
|
0.00004
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
rs1017657436
|
0.00004
|
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)
|
rs141105798
|
0.00004
|
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
rs745584505
|
0.00004
|
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
|
rs767132960
|
0.00003
|
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter)
|
rs764820125
|
0.00003
|
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter)
|
rs746422516
|
0.00003
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261
|
0.00003
|
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
|
rs544343105
|
0.00003
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)
|
rs369313141
|
0.00003
|
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
|
rs138343927
|
0.00003
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223
|
0.00003
|
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp)
|
rs765580781
|
0.00003
|
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743
|
0.00002
|
NM_004990.4(MARS1):c.1201G>A (p.Val401Met)
|
rs774447812
|
0.00002
|
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
|
rs751129809
|
0.00002
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
rs754546247
|
0.00002
|
NM_004990.4(MARS1):c.201-3C>T
|
rs374880860
|
0.00002
|
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
|
rs770756933
|
0.00002
|
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met)
|
rs776051748
|
0.00002
|
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944
|
0.00002
|
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr)
|
rs758314169
|
0.00002
|
NM_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
0.00002
|
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
|
rs758051760
|
0.00002
|
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met)
|
rs759262797
|
0.00002
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
rs773914259
|
0.00002
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)
|
rs750309467
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
0.00002
|
NC_000012.11:g.57892346A>G
|
rs766466297
|
0.00001
|
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
rs746654999
|
0.00001
|
NM_004990.4(MARS1):c.1091+4A>G
|
rs987991720
|
0.00001
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171
|
0.00001
|
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter)
|
rs754698410
|
0.00001
|
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
rs1280661109
|
0.00001
|
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser)
|
rs1450179852
|
0.00001
|
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile)
|
rs1484877370
|
0.00001
|
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala)
|
rs1359914043
|
0.00001
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723
|
0.00001
|
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln)
|
rs750231101
|
0.00001
|
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)
|
rs1408685568
|
0.00001
|
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter)
|
rs1313001176
|
0.00001
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs778085997
|
0.00001
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys)
|
rs747598332
|
0.00001
|
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn)
|
rs375218777
|
0.00001
|
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val)
|
rs775880924
|
0.00001
|
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys)
|
rs764601965
|
0.00001
|
NM_004990.4(MARS1):c.1793G>A (p.Arg598His)
|
rs749954063
|
0.00001
|
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser)
|
rs765972233
|
0.00001
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn)
|
rs932854507
|
0.00001
|
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys)
|
rs1276192658
|
0.00001
|
NM_004990.4(MARS1):c.1968-8C>T
|
rs1209991469
|
0.00001
|
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr)
|
rs1156891377
|
0.00001
|
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe)
|
rs1877703051
|
0.00001
|
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp)
|
rs771306648
|
0.00001
|
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp)
|
rs587777228
|
0.00001
|
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr)
|
rs1051420158
|
0.00001
|
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp)
|
rs1386767973
|
0.00001
|
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys)
|
rs769280984
|
0.00001
|
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met)
|
rs1877717622
|
0.00001
|
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly)
|
rs758918563
|
0.00001
|
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly)
|
rs773571063
|
0.00001
|
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro)
|
rs755480968
|
0.00001
|
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala)
|
rs946923506
|
0.00001
|
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg)
|
rs1489534290
|
0.00001
|
NM_004990.4(MARS1):c.2391+3A>G
|
rs995030286
|
0.00001
|
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)
|
rs200404964
|
0.00001
|
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu)
|
rs368995987
|
0.00001
|
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val)
|
rs370631429
|
0.00001
|
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)
|
rs1172463219
|
0.00001
|
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr)
|
rs778165066
|
0.00001
|
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)
|
rs779548081
|
0.00001
|
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr)
|
rs28382854
|
0.00001
|
NM_004990.4(MARS1):c.2T>A (p.Met1Lys)
|
rs760194380
|
0.00001
|
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter)
|
rs912847491
|
0.00001
|
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg)
|
rs1037400402
|
0.00001
|
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg)
|
rs774655266
|
0.00001
|
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter)
|
rs753083306
|
0.00001
|
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp)
|
rs776361792
|
0.00001
|
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)
|
rs147034935
|
0.00001
|
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr)
|
rs187172640
|
0.00001
|
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser)
|
rs1875839426
|
0.00001
|
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser)
|
rs1227531274
|
0.00001
|
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)
|
rs139033078
|
0.00001
|
NM_004990.4(MARS1):c.770T>C (p.Val257Ala)
|
rs200308742
|
0.00001
|
NM_004990.4(MARS1):c.782C>T (p.Ala261Val)
|
rs769280509
|
0.00001
|
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)
|
rs776026574
|
0.00001
|
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
|
rs773474721
|
0.00001
|
NC_000012.11:g.(?_57883659)_(57884447_?)del
|
|
|
NC_000012.11:g.(?_57891920)_(57898102_?)dup
|
|
|
NC_000012.11:g.(?_57894084)_(57894325_?)del
|
|
|
NC_000012.11:g.(?_57906514)_(57976962_?)dup
|
|
|
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr)
|
|
|
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr)
|
|
|
NM_004990.4(MARS1):c.1019A>G (p.His340Arg)
|
|
|
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn)
|
|
|
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val)
|
|
|
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)
|
|
|
NM_004990.4(MARS1):c.1034G>A (p.Arg345His)
|
|
|
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)
|
|
|
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser)
|
rs2140017178
|
|
NM_004990.4(MARS1):c.109+7GTGCTG[3]
|
rs763091763
|
|
NM_004990.4(MARS1):c.1091+3A>G
|
rs2140017230
|
|
NM_004990.4(MARS1):c.1092-3C>T
|
|
|
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
|
|
|
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
|
|
|
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
|
|
|
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter)
|
|
|
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala)
|
|
|
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala)
|
|
|
NM_004990.4(MARS1):c.115G>A (p.Val39Met)
|
rs564742568
|
|
NM_004990.4(MARS1):c.115G>C (p.Val39Leu)
|
|
|
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg)
|
|
|
NM_004990.4(MARS1):c.1171C>G (p.His391Asp)
|
|
|
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
|
rs1594821331
|
|
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys)
|
|
|
NM_004990.4(MARS1):c.119del (p.Val40fs)
|
|
|
NM_004990.4(MARS1):c.1210G>A (p.Val404Met)
|
rs370559405
|
|
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
|
|
|
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)
|
rs1594821386
|
|
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val)
|
rs2140019644
|
|
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro)
|
|
|
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)
|
|
|
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
|
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
NM_004990.4(MARS1):c.1294-13T>C
|
|
|
NM_004990.4(MARS1):c.1294-5C>G
|
rs149946100
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
rs780028144
|
|
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_004990.4(MARS1):c.1369-6_1369-2del
|
|
|
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
|
|
|
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
|
|
|
NM_004990.4(MARS1):c.1392dup (p.Leu465fs)
|
rs2140033743
|
|
NM_004990.4(MARS1):c.13G>A (p.Val5Met)
|
rs587777227
|
|
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
|
|
|
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
|
|
|
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg)
|
|
|
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter)
|
|
|
NM_004990.4(MARS1):c.148G>A (p.Val50Ile)
|
|
|
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)
|
|
|
NM_004990.4(MARS1):c.1500del (p.Lys500fs)
|
rs754505518
|
|
NM_004990.4(MARS1):c.1514dup (p.Pro506fs)
|
rs1877536163
|
|
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer)
|
rs2140033925
|
|
NM_004990.4(MARS1):c.1531_1539+14del
|
|
|
NM_004990.4(MARS1):c.1534del (p.Asp512fs)
|
|
|
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
|
rs567401794
|
|
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
|
|
|
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
|
|
|
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
|
|
|
NM_004990.4(MARS1):c.1635+4A>G
|
|
|
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
|
rs1875708945
|
|
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)
|
|
|
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del)
|
rs1555168270
|
|
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val)
|
|
|
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)
|
|
|
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)
|
|
|
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser)
|
rs1357906437
|
|
NM_004990.4(MARS1):c.1754-1G>A
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754-1G>C
|
rs1594833474
|
|
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
|
|
|
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala)
|
rs2140034963
|
|
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu)
|
rs2140034972
|
|
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
|
|
|
NM_004990.4(MARS1):c.1853G>A (p.Arg618His)
|
|
|
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)
|
|
|
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs)
|
|
|
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)
|
|
|
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)
|
|
|
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)
|
|
|
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu)
|
|
|
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile)
|
|
|
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe)
|
rs769611828
|
|
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)
|
|
|
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met)
|
|
|
NM_004990.4(MARS1):c.1910dup (p.Asp637fs)
|
|
|
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser)
|
|
|
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)
|
|
|
NM_004990.4(MARS1):c.1967+15G>T
|
|
|
NM_004990.4(MARS1):c.1967+3A>G
|
rs183042263
|
|
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
|
rs1594835469
|
|
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys)
|
rs2140036938
|
|
NM_004990.4(MARS1):c.200+4A>G
|
rs774241581
|
|
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
|
|
|
NM_004990.4(MARS1):c.201-14C>G
|
|
|
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
|
|
|
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu)
|
rs145672326
|
|
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly)
|
rs1205620243
|
|
NM_004990.4(MARS1):c.2039G>A (p.Arg680His)
|
|
|
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr)
|
|
|
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr)
|
|
|
NM_004990.4(MARS1):c.2099+6dup
|
|
|
NM_004990.4(MARS1):c.2100-1G>A
|
|
|
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
|
|
|
NM_004990.4(MARS1):c.2114dup (p.Leu705fs)
|
rs777324495
|
|
NM_004990.4(MARS1):c.2117G>A (p.Arg706His)
|
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)
|
|
|
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro)
|
|
|
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)
|
|
|
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)
|
|
|
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val)
|
|
|
NM_004990.4(MARS1):c.2161G>A (p.Val721Met)
|
|
|
NM_004990.4(MARS1):c.2204+3A>C
|
rs752787448
|
|
NM_004990.4(MARS1):c.2204+3A>G
|
|
|
NM_004990.4(MARS1):c.2204+4_2204+7del
|
rs1327486572
|
|
NM_004990.4(MARS1):c.2204+6T>C
|
|
|
NM_004990.4(MARS1):c.2204+9G>A
|
|
|
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp)
|
rs139536122
|
|
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala)
|
rs2140037579
|
|
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
|
|
|
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys)
|
|
|
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met)
|
|
|
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)
|
|
|
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr)
|
|
|
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)
|
|
|
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
|
rs1594836361
|
|
NM_004990.4(MARS1):c.2286G>A (p.Thr762=)
|
|
|
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr)
|
rs1565652335
|
|
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)
|
|
|
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter)
|
rs1248367484
|
|
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)
|
|
|
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr)
|
|
|
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr)
|
|
|
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
|
|
|
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
|
|
|
NM_004990.4(MARS1):c.2391+1G>C
|
|
|
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
|
|
|
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter)
|
|
|
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly)
|
rs368028253
|
|
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser)
|
|
|
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)
|
|
|
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala)
|
|
|
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)
|
|
|
NM_004990.4(MARS1):c.2504del (p.Thr835fs)
|
|
|
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg)
|
rs1159370358
|
|
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn)
|
|
|
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys)
|
|
|
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala)
|
|
|
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)
|
|
|
NM_004990.4(MARS1):c.2556+1G>A
|
rs1877828714
|
|
NM_004990.4(MARS1):c.2556+3A>G
|
|
|
NM_004990.4(MARS1):c.2556+3A>T
|
|
|
NM_004990.4(MARS1):c.2556+4T>A
|
|
|
NM_004990.4(MARS1):c.2556+5G>A
|
|
|
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
|
|
|
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
|
rs1594838677
|
|
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)
|
|
|
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg)
|
|
|
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)
|
|
|
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)
|
|
|
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
|
rs1027516483
|
|
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn)
|
rs1181373475
|
|
NM_004990.4(MARS1):c.2685dup (p.Gly896fs)
|
|
|
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)
|
|
|
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn)
|
|
|
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del)
|
rs1409128703
|
|
NM_004990.4(MARS1):c.279+5G>A
|
|
|
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)
|
|
|
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)
|
|
|
NM_004990.4(MARS1):c.311T>A (p.Val104Glu)
|
|
|
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
|
|
|
NM_004990.4(MARS1):c.337G>T (p.Val113Phe)
|
|
|
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser)
|
rs2139997870
|
|
NM_004990.4(MARS1):c.349G>A (p.Val117Met)
|
|
|
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)
|
|
|
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly)
|
rs1046282755
|
|
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)
|
|
|
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
|
rs1875583589
|
|
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)
|
|
|
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr)
|
rs2139998020
|
|
NM_004990.4(MARS1):c.414+1G>T
|
|
|
NM_004990.4(MARS1):c.415-5C>G
|
rs747351446
|
|
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)
|
|
|
NM_004990.4(MARS1):c.427C>G (p.Leu143Val)
|
|
|
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
|
|
|
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)
|
|
|
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)
|
|
|
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)
|
|
|
NM_004990.4(MARS1):c.509A>G (p.His170Arg)
|
|
|
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly)
|
rs142331178
|
|
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)
|
|
|
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)
|
|
|
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
|
|
|
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
|
|
|
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)
|
|
|
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)
|
|
|
NM_004990.4(MARS1):c.590C>T (p.Ala197Val)
|
|
|
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)
|
|
|
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
|
|
|
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)
|
rs1565637642
|
|
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
|
|
|
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
|
rs1875839232
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
rs777370844
|
|
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys)
|
rs1249955185
|
|
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu)
|
|
|
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly)
|
rs2139993470
|
|
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
|
|
|
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
|
|
|
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln)
|
rs1247809884
|
|
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
|
rs755863042
|
|
NM_004990.4(MARS1):c.703A>G (p.Met235Val)
|
|
|
NM_004990.4(MARS1):c.709G>A (p.Val237Ile)
|
|
|
NM_004990.4(MARS1):c.712dup (p.Thr238fs)
|
|
|
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
|
|
|
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
|
|
|
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)
|
|
|
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)
|
|
|
NM_004990.4(MARS1):c.770+18_770+19del
|
|
|
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
|
|
|
NM_004990.4(MARS1):c.804C>G (p.Ile268Met)
|
rs1421551773
|
|
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
|
|
|
NM_004990.4(MARS1):c.874G>C (p.Asp292His)
|
|
|
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)
|
|
|
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)
|
|
|
NM_004990.4(MARS1):c.887+5A>G
|
rs1565643835
|
|
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser)
|
rs1876748489
|
|
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
|
|
|
NM_004990.4(MARS1):c.896G>A (p.Arg299His)
|
|
|
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)
|
|
|
NM_004990.4(MARS1):c.902G>A (p.Arg301His)
|
|
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943
|
|
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
|
|
|
NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
|
|
|
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
|
|
|
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
rs145260922
|
|
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro)
|
rs747834192
|
|
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
|
|
|
NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
|
|
|