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.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.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
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.1332+3A>C
|
rs367641890
|
0.00018
|
NM_000255.4(MMUT):c.1333-8C>T
|
rs199555550
|
0.00017
|
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.2022C>T (p.Leu674=)
|
rs772652266
|
0.00010
|
NM_000255.4(MMUT):c.1676+10T>C
|
rs199886805
|
0.00009
|
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.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys)
|
rs201741770
|
0.00005
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
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.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.1041A>G (p.Leu347=)
|
rs1454849970
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000255.4(MMUT):c.1206T>G (p.Ala402=)
|
rs142539215
|
0.00001
|
NM_000255.4(MMUT):c.1410A>G (p.Glu470=)
|
rs755553945
|
0.00001
|
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.1944C>A (p.Gly648=)
|
rs758674900
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
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.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
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.571G>A (p.Ala191Thr)
|
rs1313120333
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.*201del
|
rs10713340
|
|
NM_000255.4(MMUT):c.*201dup
|
rs10713340
|
|
NM_000255.4(MMUT):c.-16G>A
|
rs781555363
|
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs)
|
rs886041957
|
|
NM_000255.4(MMUT):c.1084-217A>G
|
rs186312168
|
|
NM_000255.4(MMUT):c.1112C>T (p.Ala371Val)
|
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
|
rs772936850
|
|
NM_000255.4(MMUT):c.1560+16_1560+17dup
|
rs56408395
|
|
NM_000255.4(MMUT):c.1560+16dup
|
rs56408395
|
|
NM_000255.4(MMUT):c.1560+31del
|
rs56408395
|
|
NM_000255.4(MMUT):c.1594C>G (p.Arg532Gly)
|
rs764985110
|
|
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter)
|
rs796052008
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1677-164A>T
|
rs9463483
|
|
NM_000255.4(MMUT):c.1677-53A>G
|
rs9473557
|
|
NM_000255.4(MMUT):c.1808+164_1808+165del
|
rs200061580
|
|
NM_000255.4(MMUT):c.1808+66C>G
|
rs9473555
|
|
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly)
|
rs796052004
|
|
NM_000255.4(MMUT):c.1956+16G>T
|
rs1057521406
|
|
NM_000255.4(MMUT):c.1957-1150C>T
|
rs569391417
|
|
NM_000255.4(MMUT):c.1957-982del
|
rs35151510
|
|
NM_000255.4(MMUT):c.1957-998dup
|
rs35151510
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)
|
rs796052009
|
|
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly)
|
rs941483851
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.743A>G (p.Tyr248Cys)
|
rs757594175
|
|
NM_000255.4(MMUT):c.754C>T (p.His252Tyr)
|
rs796052010
|
|
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)
|
rs796052007
|
|
NM_000255.4(MMUT):c.912-138C>T
|
rs9395492
|
|
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)
|
rs1085308002
|
|