ClinVar Miner

List of variants in gene MMUT reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 412
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.*1107dup rs71777574 0.35787
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.1957-921C>A rs144754163 0.02626
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.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.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.*101G>A rs113025987 0.00315
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
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.1991C>T (p.Ala664Val) rs137958217 0.00036
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.1008G>A (p.Met336Ile) rs150095448 0.00024
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.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.189C>A (p.Thr63=) rs777167901 0.00014
NM_000255.4(MMUT):c.2124+16A>G rs376257828 0.00014
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.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
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.1956+17G>C rs199735681 0.00006
NM_000255.4(MMUT):c.1959T>C (p.Thr653=) rs149460386 0.00006
NM_000255.4(MMUT):c.912-13G>A rs542038574 0.00006
NM_000255.4(MMUT):c.1119A>G (p.Glu373=) rs755977989 0.00004
NM_000255.4(MMUT):c.756C>T (p.His252=) rs376716145 0.00004
NM_000255.4(MMUT):c.123A>G (p.Pro41=) rs753769272 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.1737T>C (p.Asn579=) rs770895512 0.00003
NM_000255.4(MMUT):c.291T>C (p.Pro97=) rs752530461 0.00003
NM_000255.4(MMUT):c.1002G>A (p.Glu334=) rs753801296 0.00002
NM_000255.4(MMUT):c.1561-4A>G rs555905807 0.00002
NM_000255.4(MMUT):c.1842A>G (p.Arg614=) rs200996892 0.00002
NM_000255.4(MMUT):c.192G>A (p.Pro64=) rs747391696 0.00002
NM_000255.4(MMUT):c.438T>C (p.Tyr146=) rs200735240 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.1023C>T (p.Asn341=) rs759057586 0.00001
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) rs1454849970 0.00001
NM_000255.4(MMUT):c.1084-15T>C rs751208293 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.1143G>A (p.Gly381=) rs1767556787 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.1305A>T (p.Thr435=) rs372277433 0.00001
NM_000255.4(MMUT):c.1308T>C (p.Asn436=) rs766646882 0.00001
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) rs755553945 0.00001
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267 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.1659G>A (p.Val553=) rs764316430 0.00001
NM_000255.4(MMUT):c.1704C>T (p.Ala568=) rs761076380 0.00001
NM_000255.4(MMUT):c.1734G>A (p.Ala578=) rs139323928 0.00001
NM_000255.4(MMUT):c.1809-9G>A rs973689274 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.1938C>T (p.Asp646=) rs755382704 0.00001
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) rs758674900 0.00001
NM_000255.4(MMUT):c.1957-9A>T rs550694604 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.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000255.4(MMUT):c.2112G>A (p.Val704=) rs1395239174 0.00001
NM_000255.4(MMUT):c.2250A>T (p.Val750=) rs774736275 0.00001
NM_000255.4(MMUT):c.258A>G (p.Pro86=) rs761026696 0.00001
NM_000255.4(MMUT):c.321C>T (p.Ile107=) rs570459486 0.00001
NM_000255.4(MMUT):c.327G>A (p.Gln109=) rs371185170 0.00001
NM_000255.4(MMUT):c.363G>A (p.Lys121=) rs772753347 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 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.663A>T (p.Ile221=) rs1182821853 0.00001
NM_000255.4(MMUT):c.754-7T>A rs79410182 0.00001
NM_000255.4(MMUT):c.78G>A (p.Arg26=) rs750675392 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.954A>G (p.Glu318=) rs1471303851 0.00001
NM_000255.4(MMUT):c.*201del rs10713340
NM_000255.4(MMUT):c.-16G>A rs781555363
NM_000255.4(MMUT):c.1014G>A (p.Gln338=) rs767106240
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.1035T>A (p.Leu345=) rs2127418640
NM_000255.4(MMUT):c.1039C>T (p.Leu347=) rs888114831
NM_000255.4(MMUT):c.1062T>A (p.Ser354=)
NM_000255.4(MMUT):c.1062T>C (p.Ser354=)
NM_000255.4(MMUT):c.1071A>G (p.Ser357=) rs2127418622
NM_000255.4(MMUT):c.1077T>G (p.Thr359=)
NM_000255.4(MMUT):c.1083+10T>C rs757339618
NM_000255.4(MMUT):c.1083+20T>A
NM_000255.4(MMUT):c.1083+20T>G
NM_000255.4(MMUT):c.1083+7A>C
NM_000255.4(MMUT):c.1084-11A>T
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.1091A>G (p.Tyr364Cys)
NM_000255.4(MMUT):c.1101T>C (p.Ile367=) rs1273150364
NM_000255.4(MMUT):c.1113A>C (p.Ala371=) rs1373936551
NM_000255.4(MMUT):c.1113A>G (p.Ala371=)
NM_000255.4(MMUT):c.1131A>G (p.Ala377=) rs2127417960
NM_000255.4(MMUT):c.1146T>A (p.Thr382=) rs2127417956
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.1161A>G (p.Thr387=)
NM_000255.4(MMUT):c.1164T>C (p.Asn388=) rs879253840
NM_000255.4(MMUT):c.1180T>C (p.Leu394=) rs2127417937
NM_000255.4(MMUT):c.1191A>C (p.Pro397=) rs2127417933
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.1239A>G (p.Gln413=)
NM_000255.4(MMUT):c.1251G>A (p.Gly417=)
NM_000255.4(MMUT):c.1272T>C (p.Pro424=) rs2127417901
NM_000255.4(MMUT):c.1278A>C (p.Gly426=)
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.1326T>A (p.Ala442=) rs2127417866
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.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_1333-6del rs1219303946
NM_000255.4(MMUT):c.1335C>T (p.Leu445=) rs2127417200
NM_000255.4(MMUT):c.1350A>G (p.Glu450=) rs2127417186
NM_000255.4(MMUT):c.1377A>C (p.Val459=)
NM_000255.4(MMUT):c.1383G>A (p.Glu461=)
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.1434A>G (p.Arg478=)
NM_000255.4(MMUT):c.1444+16A>C rs2127417126
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.1445-5A>G
NM_000255.4(MMUT):c.1467A>G (p.Val489=)
NM_000255.4(MMUT):c.1473G>A (p.Lys491=)
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.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.1560+10G>A
NM_000255.4(MMUT):c.1560+11C>G
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+20T>C
NM_000255.4(MMUT):c.1560+31del rs56408395
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>G (p.Lys522Arg) rs144665233
NM_000255.4(MMUT):c.1599T>C (p.Cys533=) rs886042128
NM_000255.4(MMUT):c.1602T>A (p.Leu534=)
NM_000255.4(MMUT):c.1608A>G (p.Ala536=)
NM_000255.4(MMUT):c.1614C>G (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1644C>A (p.Ile548=) rs758475503
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.1665A>G (p.Ala555=) rs760537903
NM_000255.4(MMUT):c.1665A>T (p.Ala555=)
NM_000255.4(MMUT):c.1671G>A (p.Arg557=) rs2127415942
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.1677-18C>T
NM_000255.4(MMUT):c.1677-19C>A
NM_000255.4(MMUT):c.1677-20A>C rs2127415238
NM_000255.4(MMUT):c.1677-20A>G
NM_000255.4(MMUT):c.1677-7G>A
NM_000255.4(MMUT):c.1677-8T>C rs762465961
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.1692A>G (p.Glu564=)
NM_000255.4(MMUT):c.1719T>C (p.Phe573=)
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.1770A>G (p.Glu590=)
NM_000255.4(MMUT):c.1794A>G (p.Thr598=)
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+7T>C
NM_000255.4(MMUT):c.1808+9T>C
NM_000255.4(MMUT):c.1809-14T>A
NM_000255.4(MMUT):c.1809-4T>C
NM_000255.4(MMUT):c.1809-4T>G
NM_000255.4(MMUT):c.1809-6T>A rs2127414761
NM_000255.4(MMUT):c.1809-8T>G
NM_000255.4(MMUT):c.1833A>G (p.Glu611=) rs2127414747
NM_000255.4(MMUT):c.1839C>T (p.Arg613=) rs1237541509
NM_000255.4(MMUT):c.1857A>T (p.Val619=)
NM_000255.4(MMUT):c.1878C>A (p.Gly626=)
NM_000255.4(MMUT):c.1884C>T (p.Asp628=) rs1335659494
NM_000255.4(MMUT):c.1887A>G (p.Arg629=) rs2127414712
NM_000255.4(MMUT):c.1905T>C (p.Ala635=)
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.1944C>T (p.Gly648=)
NM_000255.4(MMUT):c.1956+11C>G
NM_000255.4(MMUT):c.1956+14T>C
NM_000255.4(MMUT):c.1956+16G>T rs1057521406
NM_000255.4(MMUT):c.1956+19G>A
NM_000255.4(MMUT):c.1956+20G>A rs1767234724
NM_000255.4(MMUT):c.1956+20G>T
NM_000255.4(MMUT):c.1957-1150C>T rs569391417
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.1957-998dup rs35151510
NM_000255.4(MMUT):c.1962T>G (p.Pro654=)
NM_000255.4(MMUT):c.1983T>C (p.Ala661=)
NM_000255.4(MMUT):c.1992G>C (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.1995T>C (p.Asp665=) rs760579526
NM_000255.4(MMUT):c.2010_2011inv (p.Ile671Val)
NM_000255.4(MMUT):c.2019C>A (p.Thr673=)
NM_000255.4(MMUT):c.201C>T (p.Ile67=)
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.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.2073C>T (p.Ser691=) rs1161356748
NM_000255.4(MMUT):c.2124+10A>G
NM_000255.4(MMUT):c.2124+10dup
NM_000255.4(MMUT):c.2124+12C>G
NM_000255.4(MMUT):c.2124+7T>C rs2127413324
NM_000255.4(MMUT):c.2124+9T>A rs1767095253
NM_000255.4(MMUT):c.2125-10C>T rs2127412116
NM_000255.4(MMUT):c.2125-12T>A
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.2127T>C (p.Asp709=) rs2127412112
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.2157C>G (p.Ser719=)
NM_000255.4(MMUT):c.2160T>C (p.Asn720=) rs749610593
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.2217T>C (p.Ile739=) rs1766985013
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.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.264G>A (p.Val88=) rs772522418
NM_000255.4(MMUT):c.267G>A (p.Lys89=) rs1767771918
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.385+11A>C
NM_000255.4(MMUT):c.385+20C>T
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.396G>A (p.Gln132=)
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.414T>C (p.Phe138=) rs2127420068
NM_000255.4(MMUT):c.423G>T (p.Ala141=) rs547142339
NM_000255.4(MMUT):c.435C>T (p.Gly145=)
NM_000255.4(MMUT):c.450C>T (p.Asn150=)
NM_000255.4(MMUT):c.483A>C (p.Gly161=)
NM_000255.4(MMUT):c.489T>C (p.Ala163=)
NM_000255.4(MMUT):c.498T>C (p.Thr166=)
NM_000255.4(MMUT):c.507T>C (p.Asp169=) rs1581835057
NM_000255.4(MMUT):c.51G>A (p.Arg17=)
NM_000255.4(MMUT):c.534T>G (p.Pro178=) rs1767734830
NM_000255.4(MMUT):c.570A>C (p.Gly190=) rs1169128801
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.621T>G (p.Gly207=) rs2127419963
NM_000255.4(MMUT):c.627T>C (p.Pro209=)
NM_000255.4(MMUT):c.642T>A (p.Thr214=) rs1358054789
NM_000255.4(MMUT):c.645T>C (p.Gly215=)
NM_000255.4(MMUT):c.648C>T (p.Thr216=)
NM_000255.4(MMUT):c.651C>A (p.Ile217=) rs1581834838
NM_000255.4(MMUT):c.669G>A (p.Lys223=)
NM_000255.4(MMUT):c.687T>C (p.Asn229=)
NM_000255.4(MMUT):c.690A>G (p.Thr230=)
NM_000255.4(MMUT):c.714C>G (p.Ser238=) rs1489344185
NM_000255.4(MMUT):c.726T>C (p.Ile242=)
NM_000255.4(MMUT):c.753+10G>A
NM_000255.4(MMUT):c.753+13G>A
NM_000255.4(MMUT):c.753+7T>C
NM_000255.4(MMUT):c.753+9T>C rs2127419865
NM_000255.4(MMUT):c.754-13T>C
NM_000255.4(MMUT):c.754-14T>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.754-20C>A
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.754-8_754-7dup
NM_000255.4(MMUT):c.75C>T (p.Ser25=)
NM_000255.4(MMUT):c.76A>C (p.Arg26=)
NM_000255.4(MMUT):c.810G>A (p.Gly270=) rs1767682720
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.837T>C (p.Tyr279=) rs2127419422
NM_000255.4(MMUT):c.840T>C (p.Thr280=)
NM_000255.4(MMUT):c.846A>G (p.Ala282=) rs1184586094
NM_000255.4(MMUT):c.861C>T (p.Tyr287=) rs2127419408
NM_000255.4(MMUT):c.865A>C (p.Arg289=) rs776371056
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+7A>C rs2127419381
NM_000255.4(MMUT):c.912-15A>T
NM_000255.4(MMUT):c.912-15dup
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.921C>T (p.Phe307=)
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.975T>G (p.Gly325=) rs2127418683
NM_000255.4(MMUT):c.990T>C (p.Ala330=) rs2127418667

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