ClinVar Miner

List of variants in gene MARS1 reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2U

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 358
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HGVS dbSNP gnomAD frequency
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.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.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.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.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
NC_000012.11:g.(?_57883659)_(57884447_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)dup
NC_000012.11:g.(?_57894084)_(57894325_?)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.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.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.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.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.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.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.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.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.789A>C (p.Glu263Asp)
NM_004990.4(MARS1):c.804C>G (p.Ile268Met) rs1421551773
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.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)

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