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.1595G>A (p.Arg532His)
|
rs1141321
|
0.30110
|
NM_000255.4(MMUT):c.1676+77A>C
|
rs9381786
|
0.21722
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_000255.4(MMUT):c.711A>G (p.Pro237=)
|
rs138085432
|
0.00930
|
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_000255.4(MMUT):c.1333-18T>G
|
rs111667453
|
0.00608
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_000255.4(MMUT):c.1083+20T>C
|
rs200148994
|
0.00356
|
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.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.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.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.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.(?_49407899)_(49427199_?)dup
|
|
|
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.-39-1G>A
|
rs879253822
|
|
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.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.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.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.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.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.1445-5A>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+1G>A
|
|
|
NM_000255.4(MMUT):c.1560+20T>C
|
|
|
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.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.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.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.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.1677-1G>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.1677-7G>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+20A>G
|
|
|
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.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.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.1885dup (p.Arg629fs)
|
rs1561952122
|
|
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.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.1957-3T>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.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.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
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.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.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.385+11A>C
|
|
|
NM_000255.4(MMUT):c.385+20C>T
|
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
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.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.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.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)
|
rs1561959114
|
|
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.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>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.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.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.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.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.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.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.912-15A>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>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
|
|