ClinVar Miner

List of variants in gene MMUT studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 867
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.-39-191A>G rs9395493 0.59185
NM_000255.4(MMUT):c.386-247C>T rs7767725 0.59047
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.911+246C>G rs6915187 0.58575
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000255.3(MMUT):c.-198A>T rs3729619 0.37031
NM_000255.4(MMUT):c.1083+57C>T rs7769646 0.37023
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.1561-282_1561-281del rs57922774 0.11183
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.1084-195A>G rs12190697 0.10266
NM_000255.4(MMUT):c.1957-921C>A rs144754163 0.02626
NM_000255.4(MMUT):c.1333-278A>G rs75427872 0.02063
NM_000255.4(MMUT):c.385+65T>G rs112933822 0.01719
NM_000255.4(MMUT):c.1809-176C>T rs78100773 0.01567
NM_000255.4(MMUT):c.1957-654T>C rs150626922 0.00997
NM_000255.4(MMUT):c.1444+191G>T rs13194103 0.00948
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000255.4(MMUT):c.385+314G>A rs116403156 0.00891
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_000255.4(MMUT):c.-39-314G>T rs75982747 0.00814
NM_000255.4(MMUT):c.1561-175A>G rs187473935 0.00792
NM_000255.4(MMUT):c.-39-26T>A rs144458425 0.00764
NM_000255.4(MMUT):c.2125-218G>A rs149971230 0.00735
NM_000255.4(MMUT):c.1956+270G>A rs150151130 0.00709
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00608
NM_000255.4(MMUT):c.1677-30A>T rs113746269 0.00592
NM_000255.4(MMUT):c.1083+50A>T rs192976390 0.00586
NM_000255.4(MMUT):c.1560+14G>T rs756355886 0.00525
NM_000255.4(MMUT):c.*278A>G rs182726681 0.00484
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000255.4(MMUT):c.385+184G>A rs562940531 0.00460
NM_000255.4(MMUT):c.1333-290G>A rs149696295 0.00405
NM_000255.4(MMUT):c.1333-319C>T rs564581595 0.00404
NM_000255.4(MMUT):c.754-169C>A rs114882230 0.00404
NM_000255.4(MMUT):c.1444+69A>G rs183016925 0.00403
NM_000255.4(MMUT):c.1445-42G>A rs138133289 0.00384
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.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000255.4(MMUT):c.1084-50A>G rs141825870 0.00203
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018 0.00079
NM_000255.4(MMUT):c.1444+13G>A rs374285380 0.00061
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282 0.00058
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.2196C>T (p.Ala732=) rs201963242 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
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.566A>G (p.Asn189Ser) rs200908035 0.00028
NM_000255.4(MMUT):c.285A>G (p.Pro95=) rs113008304 0.00026
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) rs150095448 0.00024
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_000255.4(MMUT):c.1559A>C (p.Lys520Thr) rs199655896 0.00019
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_000255.4(MMUT):c.1084-12C>T rs373027036 0.00016
NM_000255.4(MMUT):c.420G>A (p.Leu140=) rs763408727 0.00016
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901 0.00014
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.2130T>C (p.Tyr710=) rs375956047 0.00013
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965 0.00010
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000255.4(MMUT):c.1447T>C (p.Ser483Pro) rs772705749 0.00007
NM_000255.4(MMUT):c.1594C>T (p.Arg532Cys) rs764985110 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000255.4(MMUT):c.744T>C (p.Tyr248=) rs754257532 0.00007
NM_000255.4(MMUT):c.754-18A>G rs746457518 0.00007
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 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.1959T>C (p.Thr653=) rs149460386 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.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.1119A>G (p.Glu373=) rs755977989 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 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.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.123A>G (p.Pro41=) rs753769272 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00003
NM_000255.4(MMUT):c.1737T>C (p.Asn579=) rs770895512 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.291T>C (p.Pro97=) rs752530461 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.1002G>A (p.Glu334=) rs753801296 0.00002
NM_000255.4(MMUT):c.1031C>G (p.Ser344Cys) rs762281578 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1270C>T (p.Pro424Ser) rs373381232 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.1532G>A (p.Arg511Gln) rs776065390 0.00002
NM_000255.4(MMUT):c.1561-4A>G rs555905807 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 0.00002
NM_000255.4(MMUT):c.1842A>G (p.Arg614=) rs200996892 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.192G>A (p.Pro64=) rs747391696 0.00002
NM_000255.4(MMUT):c.2123A>G (p.Gln708Arg) rs769217429 0.00002
NM_000255.4(MMUT):c.2124+4T>C rs370357524 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000255.4(MMUT):c.438T>C (p.Tyr146=) rs200735240 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000255.4(MMUT):c.693C>T (p.Tyr231=) rs879253834 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.1023C>T (p.Asn341=) rs759057586 0.00001
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) rs1454849970 0.00001
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly) rs1442661766 0.00001
NM_000255.4(MMUT):c.1083+2T>A rs746085723 0.00001
NM_000255.4(MMUT):c.1084-15T>C rs751208293 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1092C>T (p.Tyr364=) rs761129296 0.00001
NM_000255.4(MMUT):c.1098T>C (p.Asn366=) rs1342064032 0.00001
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter) rs1487859107 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250 0.00001
NM_000255.4(MMUT):c.1143G>A (p.Gly381=) rs1767556787 0.00001
NM_000255.4(MMUT):c.1144A>G (p.Thr382Ala) rs1471923240 0.00001
NM_000255.4(MMUT):c.1206T>G (p.Ala402=) rs142539215 0.00001
NM_000255.4(MMUT):c.1233C>T (p.Ile411=) rs1410409444 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 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.1305A>T (p.Thr435=) rs372277433 0.00001
NM_000255.4(MMUT):c.1308T>C (p.Asn436=) rs766646882 0.00001
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) rs1022821298 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) rs755553945 0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161 0.00001
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267 0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488 0.00001
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149 0.00001
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688 0.00001
NM_000255.4(MMUT):c.1560+1G>T rs200019422 0.00001
NM_000255.4(MMUT):c.1659G>A (p.Val553=) rs764316430 0.00001
NM_000255.4(MMUT):c.1704C>T (p.Ala568=) rs761076380 0.00001
NM_000255.4(MMUT):c.1733C>T (p.Ala578Val) rs759674071 0.00001
NM_000255.4(MMUT):c.1734G>A (p.Ala578=) rs139323928 0.00001
NM_000255.4(MMUT):c.1801A>G (p.Ile601Val) rs201888226 0.00001
NM_000255.4(MMUT):c.1809-9G>A rs973689274 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1869A>G (p.Gly623=) rs1157541131 0.00001
NM_000255.4(MMUT):c.1896A>G (p.Lys632=) rs1465358046 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.1909G>A (p.Gly637Arg) rs781501004 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000255.4(MMUT):c.1938C>T (p.Asp646=) rs755382704 0.00001
NM_000255.4(MMUT):c.1943G>A (p.Gly648Asp) rs766721811 0.00001
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) rs758674900 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.1957-9A>T rs550694604 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.1998G>A (p.Val666=) rs1399518803 0.00001
NM_000255.4(MMUT):c.2046T>C (p.Val682=) rs201456803 0.00001
NM_000255.4(MMUT):c.2052A>G (p.Glu684=) rs746167463 0.00001
NM_000255.4(MMUT):c.2064A>G (p.Glu688=) rs1191368860 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.2112G>A (p.Val704=) rs1395239174 0.00001
NM_000255.4(MMUT):c.2146G>A (p.Val716Ile) rs763572961 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.2250A>T (p.Val750=) rs774736275 0.00001
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile) rs150841850 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.258A>G (p.Pro86=) rs761026696 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.321C>T (p.Ile107=) rs570459486 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.327G>A (p.Gln109=) rs371185170 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.363G>A (p.Lys121=) rs772753347 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.423G>A (p.Ala141=) rs547142339 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.53A>G (p.Gln18Arg) rs372601759 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.562A>G (p.Met188Val) rs1468970345 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.615A>G (p.Glu205=) rs770863949 0.00001
NM_000255.4(MMUT):c.627T>G (p.Pro209=) rs752307096 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877 0.00001
NM_000255.4(MMUT):c.663A>T (p.Ile221=) rs1182821853 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000255.4(MMUT):c.754-7T>A rs79410182 0.00001
NM_000255.4(MMUT):c.755dup (p.His252fs) rs751624492 0.00001
NM_000255.4(MMUT):c.78G>A (p.Arg26=) rs750675392 0.00001
NM_000255.4(MMUT):c.826G>C (p.Glu276Gln) rs766420051 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.912-7A>G rs377481325 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.(?_49399431)_(49403346_?)del
NC_000006.11:g.(?_49399431)_(49427219_?)del
NC_000006.11:g.(?_49399441)_(49427179_?)del
NC_000006.11:g.(?_49403159)_(49403346_?)del
NC_000006.11:g.(?_49423783)_(49427219_?)del
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NM_000255.4(MMUT):c.*201del rs10713340
NM_000255.4(MMUT):c.*201dup rs10713340
NM_000255.4(MMUT):c.-11C>A rs483352790
NM_000255.4(MMUT):c.-13T>A rs483352784
NM_000255.4(MMUT):c.-17T>A rs483352789
NM_000255.4(MMUT):c.-34T>A rs483352796
NM_000255.4(MMUT):c.-34_-33insA rs483352797
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-37C>A rs483352794
NM_000255.4(MMUT):c.-39-13T>G rs483352791
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.-39-1_-39insA rs483352792
NM_000255.4(MMUT):c.-39-3T>A rs483352799
NM_000255.4(MMUT):c.-39-3del rs483352801
NM_000255.4(MMUT):c.-39-5del rs483352800
NM_000255.4(MMUT):c.-6T>A rs483352782
NM_000255.4(MMUT):c.1005A>T (p.Lys335Asn)
NM_000255.4(MMUT):c.1006dup (p.Met336fs)
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1014G>A (p.Gln338=) rs767106240
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.102C>T (p.His34=) rs2127420518
NM_000255.4(MMUT):c.1032T>C (p.Ser344=) rs777169651
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1035T>A (p.Leu345=) rs2127418640
NM_000255.4(MMUT):c.1039C>T (p.Leu347=) rs888114831
NM_000255.4(MMUT):c.103C>T (p.Gln35Ter)
NM_000255.4(MMUT):c.1046_1058del (p.Ala349fs)
NM_000255.4(MMUT):c.1062T>A (p.Ser354=)
NM_000255.4(MMUT):c.1062T>C (p.Ser354=)
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) rs886041957
NM_000255.4(MMUT):c.1070C>G (p.Ser357Ter) rs2127418623
NM_000255.4(MMUT):c.1071A>G (p.Ser357=) rs2127418622
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1077T>G (p.Thr359=)
NM_000255.4(MMUT):c.1083+10T>C rs757339618
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1083+1G>T
NM_000255.4(MMUT):c.1083+20T>A
NM_000255.4(MMUT):c.1083+20T>G
NM_000255.4(MMUT):c.1084-11A>T
NM_000255.4(MMUT):c.1084-15dup
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1084-217A>G rs186312168
NM_000255.4(MMUT):c.1089C>G (p.Pro363=) rs1767559349
NM_000255.4(MMUT):c.108A>G (p.Gln36=)
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.1101T>C (p.Ile367=) rs1273150364
NM_000255.4(MMUT):c.1108A>G (p.Thr370Ala)
NM_000255.4(MMUT):c.1112C>T (p.Ala371Val)
NM_000255.4(MMUT):c.1113A>C (p.Ala371=) rs1373936551
NM_000255.4(MMUT):c.1113A>G (p.Ala371=)
NM_000255.4(MMUT):c.1114A>G (p.Ile372Val)
NM_000255.4(MMUT):c.1118A>G (p.Glu373Gly) rs2127417967
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1131A>G (p.Ala377=) rs2127417960
NM_000255.4(MMUT):c.1141G>A (p.Gly381Arg)
NM_000255.4(MMUT):c.1146T>A (p.Thr382=) rs2127417956
NM_000255.4(MMUT):c.1147_1148del (p.Gln383fs) rs2127417955
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1152T>G (p.Ser384=) rs2127417948
NM_000255.4(MMUT):c.1155G>A (p.Leu385=) rs2127417947
NM_000255.4(MMUT):c.1157A>C (p.His386Pro)
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
NM_000255.4(MMUT):c.1161A>G (p.Thr387=)
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000255.4(MMUT):c.1164T>C (p.Asn388=) rs879253840
NM_000255.4(MMUT):c.1170T>G (p.Phe390Leu)
NM_000255.4(MMUT):c.1180T>C (p.Leu394=) rs2127417937
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1191A>C (p.Pro397=) rs2127417933
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1197G>T (p.Val399=)
NM_000255.4(MMUT):c.1206T>C (p.Ala402=)
NM_000255.4(MMUT):c.1212T>C (p.Ile404=)
NM_000255.4(MMUT):c.1218del (p.Asn407fs) rs1050465802
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del) rs1767553642
NM_000255.4(MMUT):c.1238A>G (p.Gln413Arg)
NM_000255.4(MMUT):c.1239A>G (p.Gln413=)
NM_000255.4(MMUT):c.1246T>G (p.Ser416Ala)
NM_000255.4(MMUT):c.1251G>A (p.Gly417=)
NM_000255.4(MMUT):c.1264G>A (p.Ala422Thr)
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1272T>C (p.Pro424=) rs2127417901
NM_000255.4(MMUT):c.1274G>A (p.Trp425Ter) rs2127417899
NM_000255.4(MMUT):c.1279G>A (p.Gly427Ser)
NM_000255.4(MMUT):c.1280_1281delinsTA (p.Gly427Val)
NM_000255.4(MMUT):c.1283del (p.Ser428fs)
NM_000255.4(MMUT):c.128G>A (p.Trp43Ter)
NM_000255.4(MMUT):c.1293G>A (p.Met431Ile) rs1767551077
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala) rs1297307718
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
NM_000255.4(MMUT):c.1302C>A (p.Leu434=)
NM_000255.4(MMUT):c.1302C>T (p.Leu434=)
NM_000255.4(MMUT):c.1323T>A (p.Ala441=)
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1326T>A (p.Ala442=) rs2127417866
NM_000255.4(MMUT):c.1328dup (p.Leu443fs) rs772609811
NM_000255.4(MMUT):c.1330A>G (p.Lys444Glu)
NM_000255.4(MMUT):c.1332+14C>T
NM_000255.4(MMUT):c.1332+18G>T
NM_000255.4(MMUT):c.1332+19C>T
NM_000255.4(MMUT):c.1332+1G>C
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1333-15T>C
NM_000255.4(MMUT):c.1333-16A>T
NM_000255.4(MMUT):c.1333-17A>G
NM_000255.4(MMUT):c.1333-6T>C
NM_000255.4(MMUT):c.1333-7T>C
NM_000255.4(MMUT):c.1333-8C>A rs199555550
NM_000255.4(MMUT):c.1333-8C>G
NM_000255.4(MMUT):c.1333-8_1333-3del
NM_000255.4(MMUT):c.1333-8_1333-6del rs1219303946
NM_000255.4(MMUT):c.1335C>T (p.Leu445=) rs2127417200
NM_000255.4(MMUT):c.1342G>T (p.Glu448Ter) rs2127417197
NM_000255.4(MMUT):c.1350A>G (p.Glu450=) rs2127417186
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1360G>A (p.Gly454Arg) rs794727842
NM_000255.4(MMUT):c.1377A>C (p.Val459=)
NM_000255.4(MMUT):c.1383G>A (p.Glu461=)
NM_000255.4(MMUT):c.1415C>G (p.Ala472Gly) rs747589392
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1416T>C (p.Ala472=)
NM_000255.4(MMUT):c.1416T>G (p.Ala472=)
NM_000255.4(MMUT):c.1419C>T (p.Ala473=) rs1767476841
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1434A>G (p.Arg478=)
NM_000255.4(MMUT):c.1441del (p.Ser481fs) rs1767475786
NM_000255.4(MMUT):c.1444+16A>C rs2127417126
NM_000255.4(MMUT):c.1444+1del rs1189219556
NM_000255.4(MMUT):c.1444+6A>G
NM_000255.4(MMUT):c.1444+7T>C rs1767475370
NM_000255.4(MMUT):c.1445-13G>T
NM_000255.4(MMUT):c.1445-14T>C
NM_000255.4(MMUT):c.1445-15T>C
NM_000255.4(MMUT):c.1445-20T>C
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1445-5A>G
NM_000255.4(MMUT):c.1459G>T (p.Val487Phe) rs1767446389
NM_000255.4(MMUT):c.145_146insCCTGGAGCCCTGTTGGCAGCTCTAGCTTTGCAGTCGTGTAATTGGCCCAAGTCATTGTTTTTCTCGCCTCACTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Lys49delinsThrTrpSerProValGlySerSerSerPheAlaValValTer)
NM_000255.4(MMUT):c.1463dup (p.Val489fs) rs2127416851
NM_000255.4(MMUT):c.1465_1484del (p.Val489fs)
NM_000255.4(MMUT):c.1467A>G (p.Val489=)
NM_000255.4(MMUT):c.1478A>T (p.Gln493Leu)
NM_000255.4(MMUT):c.1480T>A (p.Leu494Met)
NM_000255.4(MMUT):c.1480T>C (p.Leu494=)
NM_000255.4(MMUT):c.1485A>G (p.Glu495=)
NM_000255.4(MMUT):c.1491A>G (p.Glu497=)
NM_000255.4(MMUT):c.1499T>C (p.Val500Ala) rs766908649
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln) rs759605451
NM_000255.4(MMUT):c.150G>C (p.Gln50His)
NM_000255.4(MMUT):c.1513del (p.Ile505fs) rs2127416819
NM_000255.4(MMUT):c.1514T>C (p.Ile505Thr)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1527A>G (p.Ser509=) rs2127416809
NM_000255.4(MMUT):c.1530G>A (p.Val510=) rs2127416806
NM_000255.4(MMUT):c.1531C>A (p.Arg511=) rs761525156
NM_000255.4(MMUT):c.1539G>A (p.Arg513=) rs201483594
NM_000255.4(MMUT):c.1540C>A (p.Gln514Lys) rs2127416800
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+10G>A
NM_000255.4(MMUT):c.1560+11C>T
NM_000255.4(MMUT):c.1560+14G>A
NM_000255.4(MMUT):c.1560+14G>C
NM_000255.4(MMUT):c.1560+15C>T
NM_000255.4(MMUT):c.1560+15del
NM_000255.4(MMUT):c.1560+15dup
NM_000255.4(MMUT):c.1560+16_1560+17dup rs56408395
NM_000255.4(MMUT):c.1560+16dup rs56408395
NM_000255.4(MMUT):c.1560+1G>A
NM_000255.4(MMUT):c.1560+20T>C
NM_000255.4(MMUT):c.1560+31del rs56408395
NM_000255.4(MMUT):c.1560G>A (p.Lys520=) rs2127416791
NM_000255.4(MMUT):c.1561-10T>C rs1561953880
NM_000255.4(MMUT):c.1561-12del
NM_000255.4(MMUT):c.1561-13A>T
NM_000255.4(MMUT):c.1561-17C>G
NM_000255.4(MMUT):c.1561-19del
NM_000255.4(MMUT):c.1561-7T>G rs2127416031
NM_000255.4(MMUT):c.1563C>T (p.Ile521=)
NM_000255.4(MMUT):c.1565A>C (p.Lys522Thr)
NM_000255.4(MMUT):c.1565A>G (p.Lys522Arg) rs144665233
NM_000255.4(MMUT):c.1569del (p.Ser524fs) rs2127416017
NM_000255.4(MMUT):c.157_162del (p.Gly53_Lys54del)
NM_000255.4(MMUT):c.1594C>G (p.Arg532Gly) rs764985110
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.4(MMUT):c.1599T>C (p.Cys533=) rs886042128
NM_000255.4(MMUT):c.15G>A (p.Lys5=) rs483352779
NM_000255.4(MMUT):c.1602T>A (p.Leu534=)
NM_000255.4(MMUT):c.1608A>G (p.Ala536=)
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1614C>G (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1615G>A (p.Glu539Lys)
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) rs796052008
NM_000255.4(MMUT):c.1644C>A (p.Ile548=) rs758475503
NM_000255.4(MMUT):c.1645dup (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1647G>A (p.Leu549=) rs745828854
NM_000255.4(MMUT):c.1650T>C (p.Ala550=) rs1356683206
NM_000255.4(MMUT):c.1658del (p.Val553fs) rs2127415956
NM_000255.4(MMUT):c.165C>A (p.Asn55Lys) rs483352780
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1664C>T (p.Ala555Val)
NM_000255.4(MMUT):c.1665A>G (p.Ala555=) rs760537903
NM_000255.4(MMUT):c.1665A>T (p.Ala555=)
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1671G>A (p.Arg557=) rs2127415942
NM_000255.4(MMUT):c.1675A>G (p.Arg559Gly)
NM_000255.4(MMUT):c.1676+14A>T
NM_000255.4(MMUT):c.1676+8T>G
NM_000255.4(MMUT):c.1677-13T>C
NM_000255.4(MMUT):c.1677-14A>C
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.1677-18C>T
NM_000255.4(MMUT):c.1677-19C>A
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677-1G>T rs754369323
NM_000255.4(MMUT):c.1677-20A>C rs2127415238
NM_000255.4(MMUT):c.1677-20A>G
NM_000255.4(MMUT):c.1677-2A>G
NM_000255.4(MMUT):c.1677-53A>G rs9473557
NM_000255.4(MMUT):c.1677-7G>A
NM_000255.4(MMUT):c.1677-8T>C rs762465961
NM_000255.4(MMUT):c.1679del (p.Cys560fs) rs766219320
NM_000255.4(MMUT):c.1683A>G (p.Thr561=)
NM_000255.4(MMUT):c.1689A>G (p.Gly563=)
NM_000255.4(MMUT):c.168A>G (p.Pro56=) rs1561959894
NM_000255.4(MMUT):c.1690G>T (p.Glu564Ter) rs1391177886
NM_000255.4(MMUT):c.1692A>G (p.Glu564=)
NM_000255.4(MMUT):c.1700A>G (p.Asp567Gly) rs1448500208
NM_000255.4(MMUT):c.1708A>T (p.Lys570Ter)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1743A>G (p.Arg581=) rs2127415205
NM_000255.4(MMUT):c.174C>T (p.Asp58=) rs1159217865
NM_000255.4(MMUT):c.1752T>C (p.Ser584=) rs1767286007
NM_000255.4(MMUT):c.1758A>G (p.Ala586=) rs201138975
NM_000255.4(MMUT):c.1758A>T (p.Ala586=)
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser) rs1767285693
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter) rs1767285193
NM_000255.4(MMUT):c.1770A>G (p.Glu590=)
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1792A>G (p.Thr598Ala)
NM_000255.4(MMUT):c.1792_1808+6del rs2127415155
NM_000255.4(MMUT):c.1794A>G (p.Thr598=)
NM_000255.4(MMUT):c.179T>C (p.Ile60Thr) rs770382069
NM_000255.4(MMUT):c.1803C>T (p.Ile601=) rs2127415165
NM_000255.4(MMUT):c.1808+10A>G rs2127415151
NM_000255.4(MMUT):c.1808+164_1808+165del rs200061580
NM_000255.4(MMUT):c.1808+20A>G
NM_000255.4(MMUT):c.1808+66C>G rs9473555
NM_000255.4(MMUT):c.1808+7T>C
NM_000255.4(MMUT):c.1808+9T>C
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys) rs1412463565
NM_000255.4(MMUT):c.1809-14T>A
NM_000255.4(MMUT):c.1809-1G>C
NM_000255.4(MMUT):c.1809-2A>T rs1767243474
NM_000255.4(MMUT):c.1809-4T>C
NM_000255.4(MMUT):c.1809-6T>A rs2127414761
NM_000255.4(MMUT):c.1809-8T>G
NM_000255.4(MMUT):c.1814A>G (p.His605Arg)
NM_000255.4(MMUT):c.1833A>G (p.Glu611=) rs2127414747
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser) rs573727541
NM_000255.4(MMUT):c.1839C>T (p.Arg613=) rs1237541509
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.1844C>T (p.Pro615Leu) rs1554158777
NM_000255.4(MMUT):c.1847G>A (p.Arg616His) rs1369724342
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1857A>T (p.Val619=)
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1870C>A (p.Gln624Lys)
NM_000255.4(MMUT):c.1871A>G (p.Gln624Arg) rs768521956
NM_000255.4(MMUT):c.1873G>A (p.Asp625Asn)
NM_000255.4(MMUT):c.1875T>A (p.Asp625Glu)
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs) rs1767239206
NM_000255.4(MMUT):c.1878C>A (p.Gly626=)
NM_000255.4(MMUT):c.1880dup (p.His627fs) rs2127414718
NM_000255.4(MMUT):c.1881T>A (p.His627Gln)
NM_000255.4(MMUT):c.1884C>T (p.Asp628=) rs1335659494
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) rs796052004
NM_000255.4(MMUT):c.1887A>G (p.Arg629=) rs2127414712
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.1891G>A (p.Ala631Thr)
NM_000255.4(MMUT):c.1891del (p.Ala631fs) rs863224898
NM_000255.4(MMUT):c.1892C>T (p.Ala631Val)
NM_000255.4(MMUT):c.1897G>C (p.Val633Leu)
NM_000255.4(MMUT):c.1905T>C (p.Ala635=)
NM_000255.4(MMUT):c.1907C>T (p.Thr636Ile)
NM_000255.4(MMUT):c.1908A>G (p.Thr636=)
NM_000255.4(MMUT):c.1923T>G (p.Leu641=) rs1300728878
NM_000255.4(MMUT):c.1932T>C (p.Asp644=)
NM_000255.4(MMUT):c.1935G>A (p.Val645=)
NM_000255.4(MMUT):c.1936del (p.Asp646fs) rs1561952070
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.1943G>C (p.Gly648Ala)
NM_000255.4(MMUT):c.1944C>T (p.Gly648=)
NM_000255.4(MMUT):c.1945C>T (p.Pro649Ser) rs1561952053
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+10del
NM_000255.4(MMUT):c.1956+10dup
NM_000255.4(MMUT):c.1956+11C>G
NM_000255.4(MMUT):c.1956+14T>C
NM_000255.4(MMUT):c.1956+19G>A
NM_000255.4(MMUT):c.1956+1G>A
NM_000255.4(MMUT):c.1956+20G>A rs1767234724
NM_000255.4(MMUT):c.1956+20G>T
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-1150C>T rs569391417
NM_000255.4(MMUT):c.1957-3T>C
NM_000255.4(MMUT):c.1957-5T>G
NM_000255.4(MMUT):c.1957-6G>A
NM_000255.4(MMUT):c.1957-6G>C rs1767103813
NM_000255.4(MMUT):c.1957-7T>G
NM_000255.4(MMUT):c.1957-899A>C
NM_000255.4(MMUT):c.1957-899A>G rs1767133183
NM_000255.4(MMUT):c.1957-982del rs35151510
NM_000255.4(MMUT):c.1957-998dup rs35151510
NM_000255.4(MMUT):c.1962T>G (p.Pro654=)
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.1983T>C (p.Ala661=)
NM_000255.4(MMUT):c.198del (p.Ile67fs)
NM_000255.4(MMUT):c.1992G>C (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.1993G>A (p.Asp665Asn) rs1767101872
NM_000255.4(MMUT):c.1995T>C (p.Asp665=) rs760579526
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2008G>C (p.Gly670Arg)
NM_000255.4(MMUT):c.2010_2011inv (p.Ile671Val)
NM_000255.4(MMUT):c.2015G>A (p.Ser672Asn)
NM_000255.4(MMUT):c.2019C>A (p.Thr673=)
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000255.4(MMUT):c.2022C>G (p.Leu674=)
NM_000255.4(MMUT):c.2025T>C (p.Ala675=)
NM_000255.4(MMUT):c.2041C>T (p.Leu681=)
NM_000255.4(MMUT):c.2047C>T (p.Pro683Ser) rs866763981
NM_000255.4(MMUT):c.204T>C (p.Ser68=) rs746036716
NM_000255.4(MMUT):c.2055C>A (p.Leu685=)
NM_000255.4(MMUT):c.2061A>G (p.Lys687=)
NM_000255.4(MMUT):c.2062G>T (p.Glu688Ter)
NM_000255.4(MMUT):c.2063A>G (p.Glu688Gly)
NM_000255.4(MMUT):c.2073C>T (p.Ser691=) rs1161356748
NM_000255.4(MMUT):c.2081G>A (p.Arg694Gln)
NM_000255.4(MMUT):c.2098del (p.Met700fs) rs2127413347
NM_000255.4(MMUT):c.210_213dup (p.Leu72fs)
NM_000255.4(MMUT):c.2122C>T (p.Gln708Ter) rs1767095714
NM_000255.4(MMUT):c.2124+10A>G
NM_000255.4(MMUT):c.2124+12C>G
NM_000255.4(MMUT):c.2124+1G>A
NM_000255.4(MMUT):c.2124+7T>C rs2127413324
NM_000255.4(MMUT):c.2124+9T>A rs1767095253
NM_000255.4(MMUT):c.2124+9dup
NM_000255.4(MMUT):c.2125-10C>T rs2127412116
NM_000255.4(MMUT):c.2125-14C>T rs764878769
NM_000255.4(MMUT):c.2125-15A>G
NM_000255.4(MMUT):c.2125-17A>G
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.2127T>C (p.Asp709=) rs2127412112
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2137C>T (p.Leu713=)
NM_000255.4(MMUT):c.2139G>A (p.Leu713=)
NM_000255.4(MMUT):c.2139G>T (p.Leu713=) rs2127412106
NM_000255.4(MMUT):c.213C>T (p.Pro71=)
NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)
NM_000255.4(MMUT):c.2159A>G (p.Asn720Ser)
NM_000255.4(MMUT):c.2159A>T (p.Asn720Ile) rs1170712107
NM_000255.4(MMUT):c.2159_2160del (p.Asn720fs) rs2127412094
NM_000255.4(MMUT):c.215T>C (p.Leu72Ser)
NM_000255.4(MMUT):c.2160T>C (p.Asn720=) rs749610593
NM_000255.4(MMUT):c.2162T>C (p.Val721Ala)
NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)
NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)
NM_000255.4(MMUT):c.216G>A (p.Leu72=) rs1341884213
NM_000255.4(MMUT):c.2179C>A (p.Arg727=)
NM_000255.4(MMUT):c.2181A>G (p.Arg727=) rs2127412077
NM_000255.4(MMUT):c.2187A>C (p.Pro729=)
NM_000255.4(MMUT):c.2193T>A (p.Ala731=)
NM_000255.4(MMUT):c.2193dup (p.Ala732fs)
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2194dup (p.Ala732fs) rs2127412070
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2201A>C (p.Gln734Pro) rs983998340
NM_000255.4(MMUT):c.2201A>G (p.Gln734Arg)
NM_000255.4(MMUT):c.2217T>C (p.Ile739=) rs1766985013
NM_000255.4(MMUT):c.2224T>G (p.Cys742Gly)
NM_000255.4(MMUT):c.2229G>A (p.Leu743=) rs1352442021
NM_000255.4(MMUT):c.222C>T (p.Ser74=)
NM_000255.4(MMUT):c.2238G>A (p.Lys746=) rs1461532904
NM_000255.4(MMUT):c.2238G>C (p.Lys746Asn)
NM_000255.4(MMUT):c.2244A>G (p.Gln748=)
NM_000255.4(MMUT):c.2250A>G (p.Val750=)
NM_000255.4(MMUT):c.2252A>G (p.Ter751=) rs2127412022
NM_000255.4(MMUT):c.241T>C (p.Leu81=) rs150841850
NM_000255.4(MMUT):c.243_255del (p.Leu81fs) rs2127420439
NM_000255.4(MMUT):c.256C>A (p.Pro86Thr)
NM_000255.4(MMUT):c.257C>G (p.Pro86Arg)
NM_000255.4(MMUT):c.257del (p.Pro86fs)
NM_000255.4(MMUT):c.262G>A (p.Val88Met)
NM_000255.4(MMUT):c.264G>A (p.Val88=) rs772522418
NM_000255.4(MMUT):c.267G>A (p.Lys89=) rs1767771918
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro) rs754740382
NM_000255.4(MMUT):c.296T>C (p.Met99Thr) rs1767770379
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile) rs1561959708
NM_000255.4(MMUT):c.322C>G (p.Arg108Gly) rs121918257
NM_000255.4(MMUT):c.322del (p.Arg108fs) rs1413324756
NM_000255.4(MMUT):c.323G>T (p.Arg108Leu)
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.32T>C (p.Leu11Pro)
NM_000255.4(MMUT):c.330T>C (p.Tyr110=) rs879253826
NM_000255.4(MMUT):c.333T>C (p.Ala111=) rs1458806812
NM_000255.4(MMUT):c.336T>C (p.Gly112=)
NM_000255.4(MMUT):c.342T>C (p.Ser114=)
NM_000255.4(MMUT):c.345T>A (p.Thr115=)
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360T>G (p.Asn120Lys)
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu) rs796052009
NM_000255.4(MMUT):c.385+11A>C
NM_000255.4(MMUT):c.385+18_385+19insT rs483352803
NM_000255.4(MMUT):c.385+20C>T
NM_000255.4(MMUT):c.385+29del rs483352787
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+30A>C rs483352785
NM_000255.4(MMUT):c.385+31del rs483352788
NM_000255.4(MMUT):c.385+33A>C rs483352786
NM_000255.4(MMUT):c.385+34_385+35insC rs483352798
NM_000255.4(MMUT):c.385+43del rs483352802
NM_000255.4(MMUT):c.385+46del rs483352793
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.385+9T>C rs483352783
NM_000255.4(MMUT):c.386-10A>G
NM_000255.4(MMUT):c.386-12T>G
NM_000255.4(MMUT):c.386-14C>A
NM_000255.4(MMUT):c.386-19T>C
NM_000255.4(MMUT):c.386-4T>G
NM_000255.4(MMUT):c.386-7T>C rs2127420085
NM_000255.4(MMUT):c.393G>T (p.Gln131His)
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.396G>A (p.Gln132=)
NM_000255.4(MMUT):c.396_414delinsAATATATAAAGCCAC (p.Gly133fs)
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.399A>G (p.Gly133=) rs2127420075
NM_000255.4(MMUT):c.405A>G (p.Ser135=) rs2127420072
NM_000255.4(MMUT):c.406G>T (p.Val136Phe) rs1767739165
NM_000255.4(MMUT):c.40C>T (p.His14Tyr) rs745369199
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.414T>C (p.Phe138=) rs2127420068
NM_000255.4(MMUT):c.421del (p.Ala141fs) rs1767738752
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.423G>T (p.Ala141=) rs547142339
NM_000255.4(MMUT):c.424A>G (p.Thr142Ala)
NM_000255.4(MMUT):c.426del (p.His143fs) rs2127420062
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
NM_000255.4(MMUT):c.435C>T (p.Gly145=)
NM_000255.4(MMUT):c.443C>T (p.Ser148Leu) rs1300547552
NM_000255.4(MMUT):c.446A>G (p.Asp149Gly)
NM_000255.4(MMUT):c.446A>T (p.Asp149Val) rs1194327802
NM_000255.4(MMUT):c.447C>A (p.Asp149Glu)
NM_000255.4(MMUT):c.450C>T (p.Asn150=)
NM_000255.4(MMUT):c.452C>T (p.Pro151Leu)
NM_000255.4(MMUT):c.455G>T (p.Arg152Leu) rs758095905
NM_000255.4(MMUT):c.457G>A (p.Val153Ile)
NM_000255.4(MMUT):c.466G>A (p.Asp156Asn)
NM_000255.4(MMUT):c.481G>A (p.Gly161Arg) rs2127420039
NM_000255.4(MMUT):c.483A>C (p.Gly161=)
NM_000255.4(MMUT):c.489T>C (p.Ala163=)
NM_000255.4(MMUT):c.494A>G (p.Asp165Gly)
NM_000255.4(MMUT):c.498T>C (p.Thr166=)
NM_000255.4(MMUT):c.507T>C (p.Asp169=) rs1581835057
NM_000255.4(MMUT):c.509C>G (p.Thr170Ser)
NM_000255.4(MMUT):c.509C>T (p.Thr170Ile)
NM_000255.4(MMUT):c.514del (p.Ile172fs) rs1767735337
NM_000255.4(MMUT):c.51G>A (p.Arg17=)
NM_000255.4(MMUT):c.522_523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCAAAATTCTTTTT (p.Asp175delinsPhePhePhePhePhePheXaaXaaXaaXaaGlnCysGlyAspSerSerGlyIleTer)
NM_000255.4(MMUT):c.526G>T (p.Gly176Ter)
NM_000255.4(MMUT):c.531T>G (p.Ile177Met)
NM_000255.4(MMUT):c.534T>G (p.Pro178=) rs1767734830
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
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.570A>C (p.Gly190=) rs1169128801
NM_000255.4(MMUT):c.571G>T (p.Ala191Ser)
NM_000255.4(MMUT):c.573A>C (p.Ala191=) rs991479549
NM_000255.4(MMUT):c.573A>G (p.Ala191=) rs991479549
NM_000255.4(MMUT):c.590C>A (p.Ala197Glu)
NM_000255.4(MMUT):c.599T>C (p.Ile200Thr)
NM_000255.4(MMUT):c.613G>A (p.Glu205Lys)
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter) rs1767780776
NM_000255.4(MMUT):c.621T>G (p.Gly207=) rs2127419963
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.626dup (p.Pro209_Lys210insTer) rs1434645720
NM_000255.4(MMUT):c.627T>C (p.Pro209=)
NM_000255.4(MMUT):c.642T>A (p.Thr214=) rs1358054789
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.645T>C (p.Gly215=)
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.648C>T (p.Thr216=)
NM_000255.4(MMUT):c.651C>A (p.Ile217=) rs1581834838
NM_000255.4(MMUT):c.656del (p.Asn219fs) rs777296241
NM_000255.4(MMUT):c.669G>A (p.Lys223=)
NM_000255.4(MMUT):c.670G>A (p.Glu224Lys) rs1554160638
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.683G>A (p.Arg228Gln)
NM_000255.4(MMUT):c.687T>C (p.Asn229=)
NM_000255.4(MMUT):c.688A>G (p.Thr230Ala)
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.689C>T (p.Thr230Ile) rs879253833
NM_000255.4(MMUT):c.690A>G (p.Thr230=)
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.700C>T (p.Pro234Ser) rs1442489589
NM_000255.4(MMUT):c.714C>G (p.Ser238=) rs1489344185
NM_000255.4(MMUT):c.721A>G (p.Ile241Val)
NM_000255.4(MMUT):c.726T>C (p.Ile242=)
NM_000255.4(MMUT):c.726del (p.Ile242fs)
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.743A>G (p.Tyr248Cys) rs757594175
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.753+10G>A
NM_000255.4(MMUT):c.753+13G>A
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.753+7T>C
NM_000255.4(MMUT):c.753+9T>C rs2127419865
NM_000255.4(MMUT):c.753G>C (p.Lys251Asn) rs727504021
NM_000255.4(MMUT):c.754-13T>C
NM_000255.4(MMUT):c.754-16T>G
NM_000255.4(MMUT):c.754-17dup rs750770186
NM_000255.4(MMUT):c.754-18A>T
NM_000255.4(MMUT):c.754-19A>T
NM_000255.4(MMUT):c.754-1G>A
NM_000255.4(MMUT):c.754-1G>C rs76175991
NM_000255.4(MMUT):c.754-20C>A
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.754-4G>T rs1470433645
NM_000255.4(MMUT):c.754-5T>C rs1767684703
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.754-8T>C rs2127419467
NM_000255.4(MMUT):c.754C>T (p.His252Tyr) rs796052010
NM_000255.4(MMUT):c.75C>T (p.Ser25=)
NM_000255.4(MMUT):c.76A>C (p.Arg26=)
NM_000255.4(MMUT):c.785G>A (p.Ser262Asn) rs1767683356
NM_000255.4(MMUT):c.793C>T (p.His265Tyr)
NM_000255.4(MMUT):c.7del (p.Arg3fs) rs483352781
NM_000255.4(MMUT):c.800A>G (p.Gln267Arg)
NM_000255.4(MMUT):c.802_803del (p.Glu268fs)
NM_000255.4(MMUT):c.805G>A (p.Ala269Thr) rs2127419445
NM_000255.4(MMUT):c.810G>A (p.Gly270=) rs1767682720
NM_000255.4(MMUT):c.810_811dup (p.Ala271fs)
NM_000255.4(MMUT):c.811del (p.Ala271fs) rs764189353
NM_000255.4(MMUT):c.816T>C (p.Asp272=) rs755104984
NM_000255.4(MMUT):c.828G>A (p.Glu276=)
NM_000255.4(MMUT):c.831G>A (p.Leu277=)
NM_000255.4(MMUT):c.833C>T (p.Ala278Val) rs1561958387
NM_000255.4(MMUT):c.837T>C (p.Tyr279=) rs2127419422
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.840T>C (p.Thr280=)
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) 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.854T>C (p.Leu285Ser) rs1767680543
NM_000255.4(MMUT):c.854dup (p.Leu285fs) rs1767680613
NM_000255.4(MMUT):c.861C>T (p.Tyr287=) rs2127419408
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro) rs1179778233
NM_000255.4(MMUT):c.865A>C (p.Arg289=) rs776371056
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.893T>C (p.Ile298Thr)
NM_000255.4(MMUT):c.897T>C (p.Asp299=) rs1767678617
NM_000255.4(MMUT):c.903T>C (p.Phe301=)
NM_000255.4(MMUT):c.906A>G (p.Ala302=) rs2127419384
NM_000255.4(MMUT):c.909A>G (p.Pro303=)
NM_000255.4(MMUT):c.911+16C>A
NM_000255.4(MMUT):c.911+16C>G
NM_000255.4(MMUT):c.911+16C>T rs748410300
NM_000255.4(MMUT):c.911+20A>G
NM_000255.4(MMUT):c.911+5G>A
NM_000255.4(MMUT):c.911+7A>C rs2127419381
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys) rs778221358
NM_000255.4(MMUT):c.912-138C>T rs9395492
NM_000255.4(MMUT):c.912-15A>T
NM_000255.4(MMUT):c.912-15dup
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.912-20A>G
NM_000255.4(MMUT):c.912-20A>T
NM_000255.4(MMUT):c.912-8T>C rs2127418720
NM_000255.4(MMUT):c.915G>A (p.Leu305=) rs2127418715
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.920_923del (p.Phe307fs) rs2127418705
NM_000255.4(MMUT):c.920dup (p.Phe308fs)
NM_000255.4(MMUT):c.921C>T (p.Phe307=)
NM_000255.4(MMUT):c.925T>G (p.Trp309Gly) rs2127418704
NM_000255.4(MMUT):c.927G>C (p.Trp309Cys)
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.936A>C (p.Gly312=) rs2127418696
NM_000255.4(MMUT):c.948T>C (p.Tyr316=) rs2127418691
NM_000255.4(MMUT):c.949del (p.Met317fs)
NM_000255.4(MMUT):c.958G>A (p.Ala320Thr)
NM_000255.4(MMUT):c.96_97insGG (p.Leu33fs)
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.970G>T (p.Ala324Ser)
NM_000255.4(MMUT):c.975T>G (p.Gly325=) rs2127418683
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000255.4(MMUT):c.976A>T (p.Arg326Ter) rs1085308002
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000255.4(MMUT):c.990T>C (p.Ala330=) rs2127418667

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