ClinVar Miner

List of variants in gene MMUT studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321 0.69781
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384 0.41433
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589 0.41177
NM_000255.4(MMUT):c.1083+57C>T rs7769646 0.37023
NM_000255.4(MMUT):c.*1326G>A rs9381784 0.30229
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1333-185A>G rs4715130 0.30091
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_000255.4(MMUT):c.912-110C>T rs9369901 0.20713
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.*580A>G rs11757098 0.10433
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00891
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00578
NM_000255.4(MMUT):c.*278A>G rs182726681 0.00484
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00476
NM_000255.4(MMUT):c.1083+20T>C rs200148994 0.00356
NM_000255.4(MMUT):c.*34A>G rs199933641 0.00345
NM_000255.4(MMUT):c.*101G>A rs113025987 0.00315
NM_000255.4(MMUT):c.*627C>T rs534290000 0.00272
NM_000255.4(MMUT):c.*126A>G rs192605776 0.00255
NM_000255.4(MMUT):c.*558A>G rs111322712 0.00254
NM_000255.4(MMUT):c.*257A>C rs187747098 0.00235
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00234
NM_000255.4(MMUT):c.-79G>A rs184509406 0.00178
NM_000255.4(MMUT):c.-78C>A rs553218776 0.00163
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00156
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00108
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018 0.00079
NM_000255.4(MMUT):c.1444+13G>A rs374285380 0.00059
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000255.4(MMUT):c.-135G>T rs778890521 0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035 0.00035
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000255.4(MMUT):c.*466G>A rs538293537 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898 0.00028
NM_000255.4(MMUT):c.*1044T>A rs779436906 0.00024
NM_000255.4(MMUT):c.*986G>A rs886061552 0.00022
NM_000255.4(MMUT):c.*465C>T rs886061555 0.00021
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00019
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00017
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00017
NM_000255.4(MMUT):c.1084-12C>T rs373027036 0.00016
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000255.4(MMUT):c.2124+16A>G rs376257828 0.00014
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901 0.00013
NM_000255.4(MMUT):c.*200A>T rs886061556 0.00011
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000255.4(MMUT):c.*1252T>C rs781039564 0.00009
NM_000255.4(MMUT):c.*281G>A rs144168425 0.00009
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000255.4(MMUT):c.*1184T>C rs745494100 0.00008
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00008
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00006
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332 0.00006
NM_000255.4(MMUT):c.1956+17G>C rs199735681 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.912-13G>A rs542038574 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000255.4(MMUT):c.-47G>A rs909215931 0.00005
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00005
NM_000255.4(MMUT):c.*445A>G rs1025441665 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.756C>T (p.His252=) rs376716145 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00003
NM_000255.4(MMUT):c.123A>G (p.Pro41=) rs753769272 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 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.323G>A (p.Arg108His) rs483352778 0.00003
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) rs879253826 0.00003
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) rs772104231 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_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734 0.00003
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00002
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00002
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889 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.191C>T (p.Pro64Leu) rs575038087 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000255.4(MMUT):c.912-14C>T rs200394018 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000255.4(MMUT):c.*103A>G rs886061558 0.00001
NM_000255.4(MMUT):c.*1214C>A rs886061551 0.00001
NM_000255.4(MMUT):c.*1319C>T rs541645779 0.00001
NM_000255.4(MMUT):c.*636T>A rs1262925761 0.00001
NM_000255.4(MMUT):c.*691T>C rs886061554 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503 0.00001
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579 0.00001
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter) rs748129702 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 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.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392 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.1512A>G (p.Ala504=) rs762792688 0.00001
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp) rs769270504 0.00001
NM_000255.4(MMUT):c.1560+1G>T rs200019422 0.00001
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val) rs773738310 0.00001
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) rs879253845 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2046T>C (p.Val682=) rs201456803 0.00001
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) rs864309739 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 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.235A>G (p.Met79Val) rs751177187 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.385+5G>A rs1460509686 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733 0.00001
NM_000255.4(MMUT):c.545T>G (p.Met182Arg) rs763208217 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333 0.00001
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu) rs1254433398 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.691T>A (p.Tyr231Asn) rs864309736 0.00001
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) rs747777227 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000255.4(MMUT):c.753+2T>A rs796052006 0.00001
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) rs750583669 0.00001
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246 0.00001
NM_000255.4(MMUT):c.954A>G (p.Glu318=) rs1471303851 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_000255.4(MMUT):c.*1182T>C rs1766948465
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.-39-2A>G rs1767786464
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
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.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1084-1_1084delinsTT
NM_000255.4(MMUT):c.1091A>G (p.Tyr364Cys) rs563776413
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter) rs761129296
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1102del (p.Val368fs) rs1767558588
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) rs1767558268
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys) rs1400022403
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile) rs1400022403
NM_000255.4(MMUT):c.1162A>C (p.Asn388His) rs766010704
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs) rs2481334231
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1218del (p.Asn407fs) rs1050465802
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter) rs2127417916
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) rs533755473
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) rs1767549304
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) rs867154364
NM_000255.4(MMUT):c.1445-1G>C rs1226722287
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile) rs1767446166
NM_000255.4(MMUT):c.1469del (p.Asn490fs) rs2481326952
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs) rs2481326703
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+2T>C rs1767442652
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) rs1767368923
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs) rs2481320629
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1645del (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) rs1289671563
NM_000255.4(MMUT):c.1676+3G>T
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) rs1767289269
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=) rs1561959894
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs) rs2481314947
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1787del (p.Glu596fs) rs1767284074
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1802del (p.Ile601fs) rs2481314545
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser) rs756743196
NM_000255.4(MMUT):c.183G>T (p.Trp61Cys) rs748832610
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala) rs879253847
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) rs879253847
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs) rs2481310544
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.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.1996G>A (p.Val666Met) rs776430285
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000255.4(MMUT):c.2078del (p.Gly693fs) rs879253849
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln) rs2127412078
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) rs1766985866
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly) rs2127412055
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs) rs879253821
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) rs879253827
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.386-1G>A rs2127420084
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
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.404C>T (p.Ser135Leu) rs2481347836
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
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.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.424A>G (p.Thr142Ala) rs2481347763
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys) rs2481347735
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter) rs200735240
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer) rs2481347699
NM_000255.4(MMUT):c.446dup (p.Asp149fs) rs1767737608
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter) rs1223169999
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) rs879253830
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000255.4(MMUT):c.572C>T (p.Ala191Val) rs760782399
NM_000255.4(MMUT):c.595T>G (p.Phe199Val) rs2127419986
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del) rs879253831
NM_000255.4(MMUT):c.630del (p.Glu211fs) rs879253832
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu) rs764347583
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
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.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.753+3A>G rs776400008
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.755dup (p.His252fs) rs751624492
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter) rs2481343980
NM_000255.4(MMUT):c.785G>A (p.Ser262Asn) rs1767683356
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile) rs1767683356
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs) rs1767682543
NM_000255.4(MMUT):c.811del (p.Ala271fs) rs764189353
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.846A>G (p.Ala282=) rs1184586094
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) rs879253835
NM_000255.4(MMUT):c.876C>G (p.Leu292=) rs1767679459
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) rs1767678885
NM_000255.4(MMUT):c.912-138C>T rs9395492
NM_000255.4(MMUT):c.915G>T (p.Leu305Phe)
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) rs879253836
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.975del (p.Arg326fs) rs2481339111
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100

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