NM_000255.4(MMUT):c.1595= (p.Arg532=)
|
rs1141321
|
0.69890
|
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)
|
rs8589
|
0.58978
|
NM_000255.4(MMUT):c.636G>A (p.Lys212=)
|
rs2229384
|
0.58567
|
NM_000255.4(MMUT):c.636= (p.Lys212=)
|
rs2229384
|
0.41433
|
NM_000255.4(MMUT):c.2011= (p.Ile671=)
|
rs8589
|
0.41022
|
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.*1326G>A
|
rs9381784
|
0.29445
|
NM_000255.4(MMUT):c.1676+77A>C
|
rs9381786
|
0.21722
|
NM_000255.4(MMUT):c.912-110C>T
|
rs9369901
|
0.20713
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_000255.4(MMUT):c.*580A>G
|
rs11757098
|
0.10433
|
NM_000255.4(MMUT):c.711A>G (p.Pro237=)
|
rs138085432
|
0.00930
|
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_000255.4(MMUT):c.1333-18T>G
|
rs111667453
|
0.00608
|
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.1083+20T>C
|
rs200148994
|
0.00356
|
NM_000255.4(MMUT):c.*34A>G
|
rs199933641
|
0.00345
|
NM_000255.4(MMUT):c.*101G>A
|
rs113025987
|
0.00315
|
NM_000255.4(MMUT):c.*627C>T
|
rs534290000
|
0.00272
|
NM_000255.4(MMUT):c.*126A>G
|
rs192605776
|
0.00255
|
NM_000255.4(MMUT):c.*558A>G
|
rs111322712
|
0.00254
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000255.4(MMUT):c.*257A>C
|
rs187747098
|
0.00235
|
NM_000255.4(MMUT):c.-78C>A
|
rs553218776
|
0.00178
|
NM_000255.4(MMUT):c.-79G>A
|
rs184509406
|
0.00178
|
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.1115T>C (p.Ile372Thr)
|
rs150968643
|
0.00050
|
NM_000255.4(MMUT):c.-135G>T
|
rs778890521
|
0.00038
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_000255.4(MMUT):c.*466G>A
|
rs538293537
|
0.00029
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000255.4(MMUT):c.461G>A (p.Arg154His)
|
rs142068898
|
0.00028
|
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)
|
rs200908035
|
0.00028
|
NM_000255.4(MMUT):c.*1044T>A
|
rs779436906
|
0.00026
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_000255.4(MMUT):c.*986G>A
|
rs886061552
|
0.00023
|
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.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.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.*465C>T
|
rs886061555
|
0.00013
|
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
|
rs148285323
|
0.00013
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000255.4(MMUT):c.2022C>T (p.Leu674=)
|
rs772652266
|
0.00010
|
NM_000255.4(MMUT):c.*1184T>C
|
rs745494100
|
0.00009
|
NM_000255.4(MMUT):c.*1252T>C
|
rs781039564
|
0.00009
|
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.*200A>T
|
rs886061556
|
0.00008
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
0.00007
|
NM_000255.4(MMUT):c.*281G>A
|
rs144168425
|
0.00006
|
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.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000255.4(MMUT):c.912-13G>A
|
rs542038574
|
0.00006
|
NM_000255.4(MMUT):c.912G>A (p.Arg304=)
|
rs201311681
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
NM_000255.4(MMUT):c.-47G>A
|
rs909215931
|
0.00005
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
|
rs78150750
|
0.00005
|
NM_000255.4(MMUT):c.*445A>G
|
rs1025441665
|
0.00004
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.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.*1214C>A
|
rs886061551
|
0.00003
|
NM_000255.4(MMUT):c.*691T>C
|
rs886061554
|
0.00003
|
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)
|
rs1196513317
|
0.00003
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00003
|
NM_000255.4(MMUT):c.123A>G (p.Pro41=)
|
rs753769272
|
0.00003
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
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.330T>G (p.Tyr110Ter)
|
rs879253826
|
0.00003
|
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu)
|
rs1057518979
|
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.1084-10A>G
|
rs777031588
|
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.161A>G (p.Lys54Arg)
|
rs559152765
|
0.00002
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)
|
rs1252414363
|
0.00002
|
NM_000255.4(MMUT):c.431G>A (p.Arg144His)
|
rs776621768
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.912-14C>T
|
rs200394018
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000255.4(MMUT):c.*103A>G
|
rs886061558
|
0.00001
|
NM_000255.4(MMUT):c.*1319C>T
|
rs541645779
|
0.00001
|
NM_000255.4(MMUT):c.*636T>A
|
rs1262925761
|
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.1243G>T (p.Glu415Ter)
|
rs748129702
|
0.00001
|
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
|
rs746763824
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)
|
rs147737629
|
0.00001
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
NM_000255.4(MMUT):c.1512A>G (p.Ala504=)
|
rs762792688
|
0.00001
|
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
|
rs769270504
|
0.00001
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)
|
rs886061559
|
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.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
0.00001
|
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)
|
rs575038087
|
0.00001
|
NM_000255.4(MMUT):c.1957-2A>G
|
rs1554158379
|
0.00001
|
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)
|
rs1767102899
|
0.00001
|
NM_000255.4(MMUT):c.2046T>C (p.Val682=)
|
rs201456803
|
0.00001
|
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg)
|
rs864309739
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
|
rs751177187
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
|
rs535411418
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
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.359A>G (p.Asn120Ser)
|
rs776108716
|
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.545T>G (p.Met182Arg)
|
rs763208217
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)
|
rs1313120333
|
0.00001
|
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)
|
rs750583669
|
0.00001
|
NM_000255.4(MMUT):c.87G>A (p.Gln29=)
|
rs886061560
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.954A>G (p.Glu318=)
|
rs1471303851
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
NC_000006.11:g.(?_49407899)_(49427199_?)dup
|
|
|
NC_000006.12:g.(?_49447660)_(49459506_?)del
|
|
|
NC_000006.12:g.(?_49456070)_(49456247_?)del
|
|
|
NM_000255.3(MMUT):c.[1891delG];[322C>T]
|
|
|
NM_000255.4(MMUT):c.*1182T>C
|
rs1766948465
|
|
NM_000255.4(MMUT):c.*43G>T
|
rs868855862
|
|
NM_000255.4(MMUT):c.*775A>G
|
rs886061553
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.-39-2A>G
|
rs1767786464
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg)
|
rs1026703654
|
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1084-1G>A
|
rs879253838
|
|
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser)
|
rs864309737
|
|
NM_000255.4(MMUT):c.1102del (p.Val368fs)
|
rs1767558588
|
|
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
|
rs1767558268
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val)
|
rs1554159942
|
|
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)
|
rs771021560
|
|
NM_000255.4(MMUT):c.1156C>A (p.His386Asn)
|
rs1554159937
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
|
|
|
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
|
|
|
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)
|
rs879253840
|
|
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
|
|
|
NM_000255.4(MMUT):c.1181dup (p.Leu394fs)
|
rs879253841
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
|
rs1767555126
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.1218del (p.Asn407fs)
|
rs1050465802
|
|
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)
|
rs576536579
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter)
|
rs2127417916
|
|
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu)
|
rs879253842
|
|
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)
|
rs533755473
|
|
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
|
rs1346775255
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
|
rs1767549304
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1333-20_1333-9del
|
rs879253843
|
|
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
|
rs1767479902
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
|
rs1767478925
|
|
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val)
|
rs747589392
|
|
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)
|
rs368746965
|
|
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
|
rs867154364
|
|
NM_000255.4(MMUT):c.1445-1G>C
|
rs1226722287
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
|
rs1767446166
|
|
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
|
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
|
rs772936850
|
|
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
|
|
|
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)
|
rs864309738
|
|
NM_000255.4(MMUT):c.1560+2T>C
|
rs1767442652
|
|
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
|
rs748358807
|
|
NM_000255.4(MMUT):c.1581dup (p.Ala528fs)
|
rs1767368923
|
|
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
|
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
|
|
|
NM_000255.4(MMUT):c.1645del (p.Leu549fs)
|
rs1767365298
|
|
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val)
|
rs879253845
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)
|
rs756389945
|
|
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
|
rs1289671563
|
|
NM_000255.4(MMUT):c.1677-164A>T
|
rs9463483
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
|
|
|
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
|
rs1767289269
|
|
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)
|
rs1238333040
|
|
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
|
rs1561959894
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
|
|
|
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
|
rs1767285621
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
|
rs1767284074
|
|
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)
|
rs1554158951
|
|
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
|
|
|
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
|
rs756743196
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)
|
rs398123277
|
|
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)
|
rs1554158775
|
|
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)
|
rs879253846
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
|
rs1767240499
|
|
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1885dup (p.Arg629fs)
|
rs1561952122
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
|
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)
|
rs1554158377
|
|
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)
|
rs879253848
|
|
NM_000255.4(MMUT):c.1990del (p.Ala664fs)
|
rs1554158372
|
|
NM_000255.4(MMUT):c.1996G>A (p.Val666Met)
|
rs776430285
|
|
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)
|
rs761773115
|
|
NM_000255.4(MMUT):c.2078del (p.Gly693fs)
|
rs879253849
|
|
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)
|
rs1554158325
|
|
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg)
|
rs772888575
|
|
NM_000255.4(MMUT):c.2125-2A>G
|
rs1561948924
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
|
|
|
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)
|
rs879253850
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)
|
rs2127412055
|
|
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)
|
rs1554160986
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)
|
rs190834116
|
|
NM_000255.4(MMUT):c.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.2T>C (p.Met1Thr)
|
rs879253820
|
|
NM_000255.4(MMUT):c.30dup (p.Leu11fs)
|
rs879253821
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
|
rs121918253
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)
|
rs879253827
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.386-1G>A
|
rs2127420084
|
|
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)
|
rs879253828
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
|
rs1767739242
|
|
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
|
|
|
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn)
|
rs879253829
|
|
NM_000255.4(MMUT):c.41A>T (p.His14Leu)
|
rs886061561
|
|
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)
|
rs1554160730
|
|
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
|
rs565348836
|
|
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
|
|
|
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)
|
rs200735240
|
|
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)
|
|
|
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
|
rs1767737608
|
|
NM_000255.4(MMUT):c.467A>T (p.Asp156Val)
|
rs757000253
|
|
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
|
|
|
NM_000255.4(MMUT):c.55dup (p.Val19fs)
|
rs879253823
|
|
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)
|
rs879253830
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
|
rs760782399
|
|
NM_000255.4(MMUT):c.595T>G (p.Phe199Val)
|
rs2127419986
|
|
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del)
|
rs879253831
|
|
NM_000255.4(MMUT):c.630del (p.Glu211fs)
|
rs879253832
|
|
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)
|
rs121918258
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
|
rs764347583
|
|
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg)
|
rs869320653
|
|
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)
|
rs1554160637
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)
|
rs864309736
|
|
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)
|
rs747777227
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
|
rs1767726007
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.753+3A>G
|
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.754-7del
|
rs750770186
|
|
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
|
|
|
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
|
rs1767683356
|
|
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
|
rs1767683238
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)
|
rs1767682543
|
|
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)
|
rs12175488
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
|
rs796052007
|
|
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
|
rs1184586094
|
|
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg)
|
rs761477436
|
|
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)
|
rs879253835
|
|
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
|
rs1767679459
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
|
rs1767678885
|
|
NM_000255.4(MMUT):c.912-138C>T
|
rs9395492
|
|
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del)
|
rs1561957516
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter)
|
rs879253836
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)
|
rs879253837
|
|
NM_000255.4(MMUT):c.975del (p.Arg326fs)
|
|
|
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys)
|
rs758577372
|
|
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
|
rs1767615100
|
|