NM_004990.4(MARS1):c.2532G>A (p.Ala844=)
|
rs73344102
|
0.01123
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586
|
0.00435
|
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)
|
rs141671963
|
0.00327
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_004990.4(MARS1):c.280-14C>T
|
rs183195960
|
0.00223
|
NM_004990.4(MARS1):c.1500A>G (p.Lys500=)
|
rs2290297
|
0.00206
|
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)
|
rs73344082
|
0.00186
|
NM_004990.4(MARS1):c.801C>T (p.Leu267=)
|
rs151260441
|
0.00138
|
NM_004990.4(MARS1):c.2209C>A (p.Arg737=)
|
rs139536122
|
0.00127
|
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
|
rs117633211
|
0.00083
|
NM_004990.4(MARS1):c.477C>T (p.Pro159=)
|
rs117101415
|
0.00083
|
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)
|
rs199773459
|
0.00075
|
NM_004990.4(MARS1):c.1689C>T (p.Val563=)
|
rs117833843
|
0.00071
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015
|
0.00070
|
NM_004990.4(MARS1):c.1447C>T (p.Arg483Cys)
|
rs143007366
|
0.00068
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_004990.4(MARS1):c.280-18A>G
|
rs141020578
|
0.00068
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_004990.4(MARS1):c.490+14A>G
|
rs74832951
|
0.00063
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_004990.4(MARS1):c.663+11G>A
|
rs76150936
|
0.00061
|
NM_004990.4(MARS1):c.1636-9T>C
|
rs373186969
|
0.00059
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803
|
0.00052
|
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.1293+16C>A
|
rs200792020
|
0.00041
|
NM_004990.4(MARS1):c.792G>A (p.Arg264=)
|
rs141609469
|
0.00040
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_004990.4(MARS1):c.2204+10C>T
|
rs376636502
|
0.00039
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_004990.4(MARS1):c.915C>T (p.Thr305=)
|
rs199641659
|
0.00035
|
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)
|
rs149432418
|
0.00031
|
NM_004990.4(MARS1):c.369C>T (p.His123=)
|
rs145292793
|
0.00026
|
NM_004990.4(MARS1):c.415-5C>A
|
rs747351446
|
0.00025
|
NM_004990.4(MARS1):c.1149T>C (p.Thr383=)
|
rs139772690
|
0.00021
|
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.414+9G>C
|
rs375026310
|
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.490+20C>T
|
rs78617675
|
0.00013
|
NM_004990.4(MARS1):c.110-10C>T
|
rs113549256
|
0.00011
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466
|
0.00011
|
NM_004990.4(MARS1):c.201-13T>C
|
rs201531908
|
0.00011
|
NM_004990.4(MARS1):c.1360C>T (p.Leu454=)
|
rs139002397
|
0.00010
|
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.771-15C>G
|
rs201328384
|
0.00008
|
NM_004990.4(MARS1):c.238C>T (p.Leu80Phe)
|
rs190598622
|
0.00007
|
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.1995T>C (p.Phe665=)
|
rs1034831965
|
0.00006
|
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu)
|
rs765690389
|
0.00006
|
NM_004990.4(MARS1):c.231A>G (p.Gln77=)
|
rs142153017
|
0.00006
|
NM_004990.4(MARS1):c.2464-13T>C
|
rs377174430
|
0.00006
|
NM_004990.4(MARS1):c.2478G>A (p.Pro826=)
|
rs149241208
|
0.00006
|
NM_004990.4(MARS1):c.2613G>A (p.Ala871=)
|
rs373439522
|
0.00006
|
NM_004990.4(MARS1):c.2622G>A (p.Ala874=)
|
rs201214343
|
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.1284C>T (p.Val428=)
|
rs752350446
|
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.1209C>T (p.Gly403=)
|
rs746685572
|
0.00004
|
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.1908G>A (p.Thr636=)
|
rs529046133
|
0.00004
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075
|
0.00004
|
NM_004990.4(MARS1):c.2256C>G (p.Leu752=)
|
rs201540140
|
0.00004
|
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)
|
rs781249411
|
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.2610T>C (p.Ala870=)
|
rs769627922
|
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.415-5del
|
rs781175787
|
0.00004
|
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr)
|
rs764006401
|
0.00004
|
NM_004990.4(MARS1):c.630C>T (p.Pro210=)
|
rs143741525
|
0.00004
|
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile)
|
rs759101321
|
0.00004
|
NM_004990.4(MARS1):c.747G>A (p.Pro249=)
|
rs200490364
|
0.00004
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
rs1017657436
|
0.00004
|
NM_004990.4(MARS1):c.831T>C (p.Asn277=)
|
rs367995771
|
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.1294-19C>G
|
rs368800423
|
0.00003
|
NM_004990.4(MARS1):c.1369-11C>T
|
rs377436527
|
0.00003
|
NM_004990.4(MARS1):c.1369-14C>T
|
rs759180013
|
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.1488C>T (p.Thr496=)
|
rs997411162
|
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.2277C>T (p.Tyr759=)
|
rs377546356
|
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.1172A>G (p.His391Arg)
|
rs780935468
|
0.00002
|
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.1479C>A (p.Arg493=)
|
rs148191586
|
0.00002
|
NM_004990.4(MARS1):c.1635+11C>A
|
rs758827704
|
0.00002
|
NM_004990.4(MARS1):c.1636-7C>G
|
rs563778768
|
0.00002
|
NM_004990.4(MARS1):c.1794C>T (p.Arg598=)
|
rs758046761
|
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.2163G>C (p.Val721=)
|
rs762587995
|
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.2511C>G (p.Ala837=)
|
rs780483586
|
0.00002
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
rs773914259
|
0.00002
|
NM_004990.4(MARS1):c.2557-14C>T
|
rs935467477
|
0.00002
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
NM_004990.4(MARS1):c.280-13C>T
|
rs375281035
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
0.00002
|
NM_004990.4(MARS1):c.496C>T (p.Leu166=)
|
rs760702485
|
0.00002
|
NM_004990.4(MARS1):c.663+20C>T
|
rs780847522
|
0.00002
|
NM_004990.4(MARS1):c.887+12T>G
|
rs1027867373
|
0.00002
|
NM_004990.4(MARS1):c.887+16C>T
|
rs767628528
|
0.00002
|
NC_000012.11:g.57892346A>G
|
rs766466297
|
0.00001
|
NM_004990.4(MARS1):c.1008C>T (p.Tyr336=)
|
rs764131535
|
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.1092-6C>T
|
rs747944261
|
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.1316G>A (p.Arg439Gln)
|
rs778662742
|
0.00001
|
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala)
|
rs1359914043
|
0.00001
|
NM_004990.4(MARS1):c.132C>T (p.Thr44=)
|
rs1555165361
|
0.00001
|
NM_004990.4(MARS1):c.1338G>A (p.Ser446=)
|
rs781410179
|
0.00001
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723
|
0.00001
|
NM_004990.4(MARS1):c.1368+15C>T
|
rs371511467
|
0.00001
|
NM_004990.4(MARS1):c.1368+3A>T
|
rs1205318968
|
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.1393T>C (p.Leu465=)
|
rs766084248
|
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.1524A>G (p.Glu508=)
|
rs754137221
|
0.00001
|
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn)
|
rs375218777
|
0.00001
|
NM_004990.4(MARS1):c.1642C>T (p.Leu548=)
|
rs922686526
|
0.00001
|
NM_004990.4(MARS1):c.1716G>A (p.Glu572=)
|
rs761794855
|
0.00001
|
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
|
rs773313017
|
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.1968-19T>C
|
rs1010906235
|
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.2115G>A (p.Leu705=)
|
rs1372985175
|
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.2313G>T (p.Leu771=)
|
rs1381114924
|
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.2609C>T (p.Ala870Val)
|
rs969642249
|
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.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.414+8G>A
|
rs371003913
|
0.00001
|
NM_004990.4(MARS1):c.432C>T (p.Ala144=)
|
rs1046252025
|
0.00001
|
NM_004990.4(MARS1):c.483C>T (p.Tyr161=)
|
rs1487140877
|
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.663+8A>C
|
rs199843552
|
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.999C>T (p.Cys333=)
|
rs775376086
|
0.00001
|
NC_000012.11:g.(?_57881874)_(57884447_?)dup
|
|
|
NC_000012.11:g.(?_57883659)_(57884447_?)del
|
|
|
NC_000012.11:g.(?_57891920)_(57898102_?)del
|
|
|
NC_000012.11:g.(?_57891920)_(57898102_?)dup
|
|
|
NC_000012.11:g.(?_57894084)_(57894325_?)del
|
|
|
NC_000012.11:g.(?_57897988)_(57898102_?)del
|
|
|
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.1059T>A (p.Ile353=)
|
|
|
NM_004990.4(MARS1):c.1091+15A>T
|
|
|
NM_004990.4(MARS1):c.1091+19G>A
|
|
|
NM_004990.4(MARS1):c.1091+20G>A
|
|
|
NM_004990.4(MARS1):c.1091+3A>G
|
rs2140017230
|
|
NM_004990.4(MARS1):c.1092-18C>T
|
|
|
NM_004990.4(MARS1):c.1092-3C>T
|
|
|
NM_004990.4(MARS1):c.1095C>T (p.Ile365=)
|
rs1555167079
|
|
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
|
|
|
NM_004990.4(MARS1):c.110-13A>T
|
rs2139996676
|
|
NM_004990.4(MARS1):c.110-5A>C
|
rs749110648
|
|
NM_004990.4(MARS1):c.110-5A>G
|
rs749110648
|
|
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.1200C>T (p.Phe400=)
|
|
|
NM_004990.4(MARS1):c.120C>T (p.Val40=)
|
|
|
NM_004990.4(MARS1):c.1210G>A (p.Val404Met)
|
rs370559405
|
|
NM_004990.4(MARS1):c.1212G>A (p.Val404=)
|
rs2140019580
|
|
NM_004990.4(MARS1):c.1221C>T (p.Phe407=)
|
|
|
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
|
|
|
NM_004990.4(MARS1):c.1233G>A (p.Glu411=)
|
|
|
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
|
rs1876868867
|
|
NM_004990.4(MARS1):c.123G>C (p.Pro41=)
|
|
|
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)
|
rs1594821386
|
|
NM_004990.4(MARS1):c.126C>T (p.Phe42=)
|
|
|
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.1284C>G (p.Val428=)
|
|
|
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
|
|
|
NM_004990.4(MARS1):c.1293+17C>T
|
rs1209786533
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
NM_004990.4(MARS1):c.1293+9A>C
|
|
|
NM_004990.4(MARS1):c.1294-13T>C
|
|
|
NM_004990.4(MARS1):c.1294-4G>A
|
|
|
NM_004990.4(MARS1):c.1294-5C>G
|
rs149946100
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100
|
|
NM_004990.4(MARS1):c.1294-6T>C
|
|
|
NM_004990.4(MARS1):c.1296G>A (p.Lys432=)
|
|
|
NM_004990.4(MARS1):c.1311C>T (p.Val437=)
|
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
rs780028144
|
|
NM_004990.4(MARS1):c.1332G>A (p.Val444=)
|
rs1594824620
|
|
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_004990.4(MARS1):c.1338G>C (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1338G>T (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1369-10G>A
|
|
|
NM_004990.4(MARS1):c.1369-6T>C
|
|
|
NM_004990.4(MARS1):c.1369-6_1369-2del
|
|
|
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
|
|
|
NM_004990.4(MARS1):c.1380A>C (p.Arg460=)
|
|
|
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
|
|
|
NM_004990.4(MARS1):c.1392dup (p.Leu465fs)
|
rs2140033743
|
|
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
|
rs752787612
|
|
NM_004990.4(MARS1):c.1428C>G (p.Pro476=)
|
|
|
NM_004990.4(MARS1):c.1434C>T (p.Ala478=)
|
rs1594832520
|
|
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
|
|
|
NM_004990.4(MARS1):c.144C>A (p.Val48=)
|
rs1018358556
|
|
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
|
|
|
NM_004990.4(MARS1):c.1479C>G (p.Arg493=)
|
|
|
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.1539+10del
|
rs1877538364
|
|
NM_004990.4(MARS1):c.1539+14T>G
|
|
|
NM_004990.4(MARS1):c.1539+7del
|
|
|
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
|
|
|
NM_004990.4(MARS1):c.1540-16T>C
|
|
|
NM_004990.4(MARS1):c.1560T>C (p.Asp520=)
|
|
|
NM_004990.4(MARS1):c.1581C>T (p.Ser527=)
|
rs2140034173
|
|
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
|
|
|
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
|
|
|
NM_004990.4(MARS1):c.1635+11C>G
|
rs758827704
|
|
NM_004990.4(MARS1):c.1635+4A>G
|
|
|
NM_004990.4(MARS1):c.1636-16A>G
|
|
|
NM_004990.4(MARS1):c.1636-17T>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.174C>T (p.Tyr58=)
|
|
|
NM_004990.4(MARS1):c.1753+16G>A
|
|
|
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
|
|
|
NM_004990.4(MARS1):c.1797T>C (p.Gly599=)
|
|
|
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.180C>T (p.Phe60=)
|
rs148642961
|
|
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
|
|
|
NM_004990.4(MARS1):c.1830G>A (p.Thr610=)
|
|
|
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.1911C>T (p.Asp637=)
|
rs1208670823
|
|
NM_004990.4(MARS1):c.1914G>A (p.Leu638=)
|
|
|
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+12T>G
|
|
|
NM_004990.4(MARS1):c.1967+15G>T
|
|
|
NM_004990.4(MARS1):c.1967+18del
|
rs1363373533
|
|
NM_004990.4(MARS1):c.1967+3A>G
|
rs183042263
|
|
NM_004990.4(MARS1):c.1968-10C>T
|
rs773836689
|
|
NM_004990.4(MARS1):c.1968-20C>T
|
|
|
NM_004990.4(MARS1):c.1968-6A>C
|
|
|
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.1998G>A (p.Gly666=)
|
|
|
NM_004990.4(MARS1):c.200+11G>A
|
|
|
NM_004990.4(MARS1):c.200+18G>A
|
|
|
NM_004990.4(MARS1):c.200+4A>G
|
rs774241581
|
|
NM_004990.4(MARS1):c.2001C>A (p.Gly667=)
|
rs2140036969
|
|
NM_004990.4(MARS1):c.2001C>T (p.Gly667=)
|
|
|
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
|
|
|
NM_004990.4(MARS1):c.201-14C>G
|
|
|
NM_004990.4(MARS1):c.201-16C>T
|
|
|
NM_004990.4(MARS1):c.201-20G>A
|
|
|
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
|
|
|
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu)
|
rs145672326
|
|
NM_004990.4(MARS1):c.2019G>A (p.Val673=)
|
|
|
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.2079C>T (p.His693=)
|
|
|
NM_004990.4(MARS1):c.2082G>A (p.Gln694=)
|
|
|
NM_004990.4(MARS1):c.2088T>C (p.Leu696=)
|
|
|
NM_004990.4(MARS1):c.2099+12A>T
|
|
|
NM_004990.4(MARS1):c.2099+13C>T
|
|
|
NM_004990.4(MARS1):c.2099+18_2099+19del
|
rs2140037113
|
|
NM_004990.4(MARS1):c.2099+6dup
|
|
|
NM_004990.4(MARS1):c.2099+9C>T
|
|
|
NM_004990.4(MARS1):c.2100-1G>A
|
|
|
NM_004990.4(MARS1):c.2100-4C>T
|
rs1253766413
|
|
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
|
|
|
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
|
rs530730589
|
|
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.2139A>G (p.Arg713=)
|
|
|
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.2196G>A (p.Glu732=)
|
|
|
NM_004990.4(MARS1):c.2204+19T>C
|
|
|
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.2205-10T>C
|
|
|
NM_004990.4(MARS1):c.2205-16G>A
|
|
|
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp)
|
rs139536122
|
|
NM_004990.4(MARS1):c.2223G>C (p.Val741=)
|
|
|
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala)
|
rs2140037579
|
|
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
|
|
|
NM_004990.4(MARS1):c.2230T>C (p.Leu744=)
|
|
|
NM_004990.4(MARS1):c.2235A>C (p.Ala745=)
|
rs2140037595
|
|
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.2256C>T (p.Leu752=)
|
|
|
NM_004990.4(MARS1):c.2262C>T (p.Val754=)
|
|
|
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.2295C>A (p.Ala765=)
|
rs2140037698
|
|
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.2340C>A (p.Ile780=)
|
rs2140037772
|
|
NM_004990.4(MARS1):c.2352C>T (p.Asn784=)
|
|
|
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
|
|
|
NM_004990.4(MARS1):c.2370A>C (p.Pro790=)
|
|
|
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
|
|
|
NM_004990.4(MARS1):c.2391+13G>A
|
rs2140037889
|
|
NM_004990.4(MARS1):c.2391+1G>C
|
|
|
NM_004990.4(MARS1):c.2392-12C>A
|
|
|
NM_004990.4(MARS1):c.2392-5dup
|
|
|
NM_004990.4(MARS1):c.2392-7_2392-5del
|
rs753118055
|
|
NM_004990.4(MARS1):c.2392-8T>A
|
rs754886014
|
|
NM_004990.4(MARS1):c.2421T>C (p.Asn807=)
|
rs1057523185
|
|
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
|
|
|
NM_004990.4(MARS1):c.2426del (p.Gln809fs)
|
rs2140038700
|
|
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.2464-12G>A
|
|
|
NM_004990.4(MARS1):c.2464-18A>G
|
|
|
NM_004990.4(MARS1):c.2464-6C>T
|
|
|
NM_004990.4(MARS1):c.2464-9_2464-7del
|
rs757191684
|
|
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)
|
rs1594838097
|
|
NM_004990.4(MARS1):c.2481G>A (p.Lys827=)
|
|
|
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.2557-11C>T
|
|
|
NM_004990.4(MARS1):c.2557-12C>A
|
rs189933911
|
|
NM_004990.4(MARS1):c.2557-12C>G
|
rs189933911
|
|
NM_004990.4(MARS1):c.2557-13C>A
|
rs781643044
|
|
NM_004990.4(MARS1):c.2557-13C>G
|
rs781643044
|
|
NM_004990.4(MARS1):c.2557-15C>A
|
|
|
NM_004990.4(MARS1):c.2557-8T>C
|
rs2140039581
|
|
NM_004990.4(MARS1):c.2574A>G (p.Glu858=)
|
rs2140039637
|
|
NM_004990.4(MARS1):c.2577G>C (p.Leu859=)
|
rs1594838549
|
|
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
|
rs1877841043
|
|
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
|
|
|
NM_004990.4(MARS1):c.2619G>C (p.Val873=)
|
rs762100988
|
|
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004990.4(MARS1):c.2625A>G (p.Lys875=)
|
|
|
NM_004990.4(MARS1):c.2629T>C (p.Leu877=)
|
rs2140039764
|
|
NM_004990.4(MARS1):c.2637A>G (p.Leu879=)
|
rs1594838666
|
|
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
|
rs1594838677
|
|
NM_004990.4(MARS1):c.2655A>G (p.Val885=)
|
rs1594838715
|
|
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.2679C>T (p.Ala893=)
|
|
|
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.2694G>A (p.Lys898=)
|
|
|
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del)
|
rs1409128703
|
|
NM_004990.4(MARS1):c.273G>A (p.Glu91=)
|
rs1386779593
|
|
NM_004990.4(MARS1):c.279+17G>A
|
|
|
NM_004990.4(MARS1):c.279+18G>A
|
rs2139997523
|
|
NM_004990.4(MARS1):c.279+5G>A
|
|
|
NM_004990.4(MARS1):c.280-12C>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.330G>T (p.Gly110=)
|
rs746237960
|
|
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.363G>C (p.Leu121=)
|
|
|
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.397T>G (p.Cys133Gly)
|
|
|
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr)
|
rs2139998020
|
|
NM_004990.4(MARS1):c.414+11T>C
|
|
|
NM_004990.4(MARS1):c.414+1G>T
|
|
|
NM_004990.4(MARS1):c.415-13A>G
|
|
|
NM_004990.4(MARS1):c.415-14T>G
|
|
|
NM_004990.4(MARS1):c.415-5C>G
|
rs747351446
|
|
NM_004990.4(MARS1):c.415-9C>T
|
|
|
NM_004990.4(MARS1):c.423A>G (p.Glu141=)
|
|
|
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.490+19A>G
|
|
|
NM_004990.4(MARS1):c.490+9T>C
|
|
|
NM_004990.4(MARS1):c.491-10A>T
|
rs1252227801
|
|
NM_004990.4(MARS1):c.491-15C>T
|
|
|
NM_004990.4(MARS1):c.491-5C>A
|
rs761648454
|
|
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.534C>T (p.Thr178=)
|
|
|
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
|
|
|
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
|
|
|
NM_004990.4(MARS1):c.576G>A (p.Gln192=)
|
|
|
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.615G>A (p.Gln205=)
|
|
|
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)
|
rs1565637642
|
|
NM_004990.4(MARS1):c.618C>T (p.Pro206=)
|
|
|
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
|
|
|
NM_004990.4(MARS1):c.638dup (p.Arg214fs)
|
|
|
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
|
rs1875839232
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
rs777370844
|
|
NM_004990.4(MARS1):c.663+14C>T
|
|
|
NM_004990.4(MARS1):c.663+19C>G
|
|
|
NM_004990.4(MARS1):c.663+9T>C
|
|
|
NM_004990.4(MARS1):c.664-12C>T
|
rs1233946450
|
|
NM_004990.4(MARS1):c.664-5T>C
|
|
|
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.683T>C (p.Leu228Pro)
|
|
|
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
|
|
|
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.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.770+19T>C
|
|
|
NM_004990.4(MARS1):c.771-10T>G
|
|
|
NM_004990.4(MARS1):c.771-13C>G
|
rs764820016
|
|
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
|
|
|
NM_004990.4(MARS1):c.804C>G (p.Ile268Met)
|
rs1421551773
|
|
NM_004990.4(MARS1):c.822C>T (p.Tyr274=)
|
|
|
NM_004990.4(MARS1):c.849C>T (p.Asn283=)
|
|
|
NM_004990.4(MARS1):c.867C>T (p.Leu289=)
|
rs764870776
|
|
NM_004990.4(MARS1):c.873C>G (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790
|
|
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+16C>G
|
rs767628528
|
|
NM_004990.4(MARS1):c.887+17G>A
|
rs201259473
|
|
NM_004990.4(MARS1):c.887+17G>C
|
rs201259473
|
|
NM_004990.4(MARS1):c.887+5A>G
|
rs1565643835
|
|
NM_004990.4(MARS1):c.888-14A>G
|
|
|
NM_004990.4(MARS1):c.888-17A>G
|
rs762403976
|
|
NM_004990.4(MARS1):c.888-5T>C
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NM_004990.4(MARS1):c.888-7C>T
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NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser)
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rs1876748489
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NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
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NM_004990.4(MARS1):c.896G>A (p.Arg299His)
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NM_004990.4(MARS1):c.902G>A (p.Arg301His)
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NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
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rs1555166943
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NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
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NM_004990.4(MARS1):c.916C>T (p.Leu306Phe)
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NM_004990.4(MARS1):c.918C>T (p.Leu306=)
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NM_004990.4(MARS1):c.960C>A (p.Thr320=)
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NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
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NM_004990.4(MARS1):c.966T>C (p.Ala322=)
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NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
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NM_004990.4(MARS1):c.972G>A (p.Glu324=)
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NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
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rs145260922
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NM_004990.4(MARS1):c.989A>C (p.Gln330Pro)
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rs747834192
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NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
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NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
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