NM_001256715.2(DNAAF3):c.323-17T>G
|
rs10407660
|
0.01106
|
NM_001256715.2(DNAAF3):c.-5+5G>T
|
rs114393069
|
0.00871
|
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)
|
rs150362958
|
0.00844
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00533
|
NM_001256715.2(DNAAF3):c.913-13C>T
|
rs146442289
|
0.00272
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_001256715.2(DNAAF3):c.913-8A>G
|
rs71367156
|
0.00151
|
NM_001256714.1(DNAAF3):c.2T>C (p.Met1Thr)
|
rs200365972
|
0.00131
|
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)
|
rs201929981
|
0.00109
|
NM_001256715.2(DNAAF3):c.284G>A (p.Ser95Asn)
|
rs148116155
|
0.00091
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_001256715.2(DNAAF3):c.1164-20G>A
|
rs377667731
|
0.00078
|
NM_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr)
|
rs549436949
|
0.00077
|
NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)
|
rs199882635
|
0.00055
|
NM_001256715.2(DNAAF3):c.900C>T (p.Gly300=)
|
rs369275731
|
0.00053
|
NM_001256715.2(DNAAF3):c.-4G>A
|
rs200851565
|
0.00043
|
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)
|
rs201231901
|
0.00041
|
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)
|
rs201919395
|
0.00036
|
NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp)
|
rs77322382
|
0.00034
|
NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=)
|
rs377325487
|
0.00033
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
NM_001256715.2(DNAAF3):c.1239-15G>A
|
rs199947168
|
0.00030
|
NM_001256715.2(DNAAF3):c.*28A>C
|
rs201512228
|
0.00028
|
NM_001256715.2(DNAAF3):c.747T>C (p.His249=)
|
rs368667794
|
0.00023
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
NM_001256715.2(DNAAF3):c.-91C>T
|
rs80026905
|
0.00020
|
NM_001256715.2(DNAAF3):c.466C>T (p.Leu156Phe)
|
rs372945469
|
0.00019
|
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys)
|
rs369116839
|
0.00016
|
NM_001256715.2(DNAAF3):c.291C>G (p.Ala97=)
|
rs569627336
|
0.00015
|
NM_001256715.2(DNAAF3):c.1210G>A (p.Gly404Arg)
|
rs202084011
|
0.00013
|
NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=)
|
rs201887376
|
0.00013
|
NM_001256715.2(DNAAF3):c.681C>T (p.Pro227=)
|
rs764852012
|
0.00013
|
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=)
|
rs565551381
|
0.00011
|
NM_001256715.2(DNAAF3):c.480+14G>A
|
rs751887577
|
0.00010
|
NM_001256715.2(DNAAF3):c.86-64G>A
|
rs543369426
|
0.00009
|
NM_001256715.2(DNAAF3):c.-81G>A
|
rs201101258
|
0.00008
|
NM_001256715.2(DNAAF3):c.419T>C (p.Leu140Pro)
|
rs747667670
|
0.00008
|
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)
|
rs373489149
|
0.00007
|
NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)
|
rs562819833
|
0.00006
|
NM_001256715.2(DNAAF3):c.162T>A (p.Ser54=)
|
rs372718229
|
0.00006
|
NM_001256715.2(DNAAF3):c.229-6T>C
|
rs764819869
|
0.00006
|
NM_001256715.2(DNAAF3):c.378G>A (p.Val126=)
|
rs759904558
|
0.00006
|
NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys)
|
rs770679152
|
0.00006
|
NM_001256715.2(DNAAF3):c.471C>T (p.Arg157=)
|
rs561398611
|
0.00006
|
NM_001256715.2(DNAAF3):c.789+1G>C
|
rs770143722
|
0.00006
|
NM_001256715.2(DNAAF3):c.86-60A>C
|
rs771361438
|
0.00006
|
NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met)
|
rs549181425
|
0.00006
|
NM_001256714.1(DNAAF3):c.24G>C (p.Ser8=)
|
rs574117710
|
0.00005
|
NM_001256715.1(DNAAF3):c.-115G>C
|
rs774308391
|
0.00005
|
NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=)
|
rs755385476
|
0.00005
|
NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter)
|
rs756412762
|
0.00005
|
NM_001256715.2(DNAAF3):c.387C>G (p.Phe129Leu)
|
rs528126745
|
0.00005
|
NM_001256715.2(DNAAF3):c.426C>G (p.Pro142=)
|
rs981566868
|
0.00005
|
NM_001256715.2(DNAAF3):c.664-9C>T
|
rs763786288
|
0.00005
|
NM_001256715.2(DNAAF3):c.-15G>C
|
rs541817053
|
0.00004
|
NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=)
|
rs368469150
|
0.00004
|
NM_001256715.2(DNAAF3):c.1132G>A (p.Gly378Ser)
|
rs200611170
|
0.00004
|
NM_001256715.2(DNAAF3):c.1238+9G>T
|
rs375688483
|
0.00004
|
NM_001256715.2(DNAAF3):c.155dup (p.Ser54fs)
|
rs745465871
|
0.00004
|
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=)
|
rs192924578
|
0.00004
|
NM_001256715.2(DNAAF3):c.433G>A (p.Asp145Asn)
|
rs1442451142
|
0.00004
|
NM_001256715.2(DNAAF3):c.640C>T (p.Arg214Cys)
|
rs761550989
|
0.00004
|
NM_001256715.2(DNAAF3):c.72C>A (p.Asp24Glu)
|
rs200866175
|
0.00004
|
NM_001256715.2(DNAAF3):c.743A>C (p.Tyr248Ser)
|
rs756236772
|
0.00004
|
NM_001256715.2(DNAAF3):c.790-9C>T
|
rs374186955
|
0.00004
|
NM_001256715.2(DNAAF3):c.86-48A>G
|
rs1483874945
|
0.00004
|
NM_001256715.2(DNAAF3):c.921G>A (p.Gly307=)
|
rs775495587
|
0.00004
|
NM_001256715.2(DNAAF3):c.-65G>C
|
rs1371744369
|
0.00003
|
NM_001256715.2(DNAAF3):c.-72T>G
|
rs760790026
|
0.00003
|
NM_001256715.2(DNAAF3):c.-75G>C
|
rs537597795
|
0.00003
|
NM_001256715.2(DNAAF3):c.1074C>T (p.Thr358=)
|
rs372671678
|
0.00003
|
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)
|
rs774136369
|
0.00003
|
NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=)
|
rs369064646
|
0.00003
|
NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro)
|
rs768592462
|
0.00003
|
NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=)
|
rs374560751
|
0.00003
|
NM_001256715.2(DNAAF3):c.1491G>A (p.Leu497=)
|
rs1366437482
|
0.00003
|
NM_001256715.2(DNAAF3):c.271A>G (p.Met91Val)
|
rs1181045345
|
0.00003
|
NM_001256715.2(DNAAF3):c.363G>A (p.Leu121=)
|
rs551100219
|
0.00003
|
NM_001256715.2(DNAAF3):c.929C>G (p.Thr310Ser)
|
rs781136508
|
0.00003
|
NM_001256715.2(DNAAF3):c.944C>T (p.Thr315Met)
|
rs758103289
|
0.00003
|
NM_001256715.2(DNAAF3):c.1049-3C>T
|
rs747311078
|
0.00002
|
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)
|
rs779990994
|
0.00002
|
NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=)
|
rs899636986
|
0.00002
|
NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=)
|
rs368857479
|
0.00002
|
NM_001256715.2(DNAAF3):c.34G>C (p.Gly12Arg)
|
rs759585776
|
0.00002
|
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)
|
rs770403610
|
0.00002
|
NM_001256715.2(DNAAF3):c.578G>A (p.Arg193His)
|
rs983176695
|
0.00002
|
NM_001256715.2(DNAAF3):c.755A>G (p.Asn252Ser)
|
rs757536895
|
0.00002
|
NM_001256715.2(DNAAF3):c.847G>A (p.Val283Met)
|
rs1039202842
|
0.00002
|
NM_001256715.2(DNAAF3):c.-3G>T
|
rs757302187
|
0.00001
|
NM_001256715.2(DNAAF3):c.-59C>T
|
rs376972065
|
0.00001
|
NM_001256715.2(DNAAF3):c.1131C>T (p.Asn377=)
|
rs368717048
|
0.00001
|
NM_001256715.2(DNAAF3):c.1209C>T (p.Pro403=)
|
rs373798404
|
0.00001
|
NM_001256715.2(DNAAF3):c.1237C>T (p.Arg413Trp)
|
rs747247157
|
0.00001
|
NM_001256715.2(DNAAF3):c.132C>A (p.Asn44Lys)
|
rs929924324
|
0.00001
|
NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu)
|
rs754170208
|
0.00001
|
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)
|
rs759571188
|
0.00001
|
NM_001256715.2(DNAAF3):c.159C>T (p.Gly53=)
|
rs529300481
|
0.00001
|
NM_001256715.2(DNAAF3):c.228+5G>C
|
rs372166228
|
0.00001
|
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)
|
rs387907152
|
0.00001
|
NM_001256715.2(DNAAF3):c.322+17C>T
|
rs200093913
|
0.00001
|
NM_001256715.2(DNAAF3):c.322G>A (p.Glu108Lys)
|
rs201688782
|
0.00001
|
NM_001256715.2(DNAAF3):c.372G>A (p.Pro124=)
|
rs1048936417
|
0.00001
|
NM_001256715.2(DNAAF3):c.491G>A (p.Arg164Gln)
|
rs771839338
|
0.00001
|
NM_001256715.2(DNAAF3):c.508G>T (p.Val170Leu)
|
rs761802279
|
0.00001
|
NM_001256715.2(DNAAF3):c.609C>T (p.Asp203=)
|
rs750637503
|
0.00001
|
NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)
|
rs397515395
|
0.00001
|
NM_001256715.2(DNAAF3):c.661G>A (p.Gly221Arg)
|
rs1302666486
|
0.00001
|
NM_001256715.2(DNAAF3):c.664-17C>G
|
rs1003385260
|
0.00001
|
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)
|
rs534298243
|
0.00001
|
NM_001256715.2(DNAAF3):c.820T>C (p.Trp274Arg)
|
rs749849022
|
0.00001
|
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)
|
rs966788457
|
0.00001
|
NM_001256715.2(DNAAF3):c.904C>A (p.Pro302Thr)
|
rs920224734
|
0.00001
|
NM_001256715.2(DNAAF3):c.922G>A (p.Glu308Lys)
|
rs1026878171
|
0.00001
|
NM_001256715.2(DNAAF3):c.927C>T (p.Ile309=)
|
rs191818542
|
0.00001
|
NM_001256714.1(DNAAF3):c.23C>A (p.Ser8Ter)
|
rs779603085
|
|
NM_001256715.1(DNAAF3):c.-98G>C
|
rs1188556854
|
|
NM_001256715.2(DNAAF3):c.-24G>A
|
|
|
NM_001256715.2(DNAAF3):c.-2T>C
|
|
|
NM_001256715.2(DNAAF3):c.-38G>A
|
|
|
NM_001256715.2(DNAAF3):c.-4-1G>A
|
rs2147311724
|
|
NM_001256715.2(DNAAF3):c.-47G>A
|
|
|
NM_001256715.2(DNAAF3):c.-67C>T
|
rs2085943148
|
|
NM_001256715.2(DNAAF3):c.-68G>C
|
|
|
NM_001256715.2(DNAAF3):c.-69C>G
|
rs772986651
|
|
NM_001256715.2(DNAAF3):c.-7A>G
|
rs2147311994
|
|
NM_001256715.2(DNAAF3):c.1048+12ACA[2]
|
rs764506535
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+15delinsTC
|
rs2147293871
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+34del
|
rs6146559
|
|
NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)
|
rs748600370
|
|
NM_001256715.2(DNAAF3):c.1055C>T (p.Pro352Leu)
|
|
|
NM_001256715.2(DNAAF3):c.1100C>A (p.Ala367Asp)
|
|
|
NM_001256715.2(DNAAF3):c.1109_1110del (p.Leu370fs)
|
rs2085791151
|
|
NM_001256715.2(DNAAF3):c.1111C>T (p.His371Tyr)
|
rs2085791092
|
|
NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter)
|
rs763874734
|
|
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=)
|
|
|
NM_001256715.2(DNAAF3):c.1157C>G (p.Ala386Gly)
|
|
|
NM_001256715.2(DNAAF3):c.1163+10G>T
|
rs200324983
|
|
NM_001256715.2(DNAAF3):c.1163+8G>A
|
|
|
NM_001256715.2(DNAAF3):c.1164-10C>G
|
rs2085781996
|
|
NM_001256715.2(DNAAF3):c.1164-5T>C
|
|
|
NM_001256715.2(DNAAF3):c.1164-8C>T
|
|
|
NM_001256715.2(DNAAF3):c.117T>C (p.Asp39=)
|
rs886054642
|
|
NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)
|
|
|
NM_001256715.2(DNAAF3):c.1195del (p.Ala399fs)
|
rs2085781090
|
|
NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)
|
|
|
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)
|
|
|
NM_001256715.2(DNAAF3):c.1223T>C (p.Ile408Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1238+14G>A
|
|
|
NM_001256715.2(DNAAF3):c.1238+20G>A
|
|
|
NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1239-20A>G
|
|
|
NM_001256715.2(DNAAF3):c.1239-9_1239-8inv
|
|
|
NM_001256715.2(DNAAF3):c.123G>A (p.Val41=)
|
rs369454066
|
|
NM_001256715.2(DNAAF3):c.1253T>C (p.Val418Ala)
|
|
|
NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)
|
|
|
NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)
|
|
|
NM_001256715.2(DNAAF3):c.126C>A (p.His42Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)
|
rs1349668884
|
|
NM_001256715.2(DNAAF3):c.1293G>T (p.Arg431Ser)
|
|
|
NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)
|
|
|
NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)
|
|
|
NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)
|
|
|
NM_001256715.2(DNAAF3):c.134C>G (p.Pro45Arg)
|
|
|
NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys)
|
rs745788397
|
|
NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=)
|
rs1555865729
|
|
NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala)
|
rs1234177840
|
|
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)
|
|
|
NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr)
|
rs2085774021
|
|
NM_001256715.2(DNAAF3):c.1393A>G (p.Thr465Ala)
|
|
|
NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)
|
|
|
NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs)
|
rs878854280
|
|
NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu)
|
rs2147290092
|
|
NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)
|
|
|
NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg)
|
rs1568861889
|
|
NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His)
|
|
|
NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His)
|
rs751901961
|
|
NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)
|
|
|
NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg)
|
rs1599916117
|
|
NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs)
|
rs1258490043
|
|
NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His)
|
|
|
NM_001256715.2(DNAAF3):c.1487C>A (p.Pro496His)
|
|
|
NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu)
|
rs757426979
|
|
NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=)
|
rs1371987115
|
|
NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser)
|
rs751749516
|
|
NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr)
|
|
|
NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)
|
|
|
NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=)
|
rs1060504731
|
|
NM_001256715.2(DNAAF3):c.1580C>A (p.Ala527Asp)
|
|
|
NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)
|
rs1371933770
|
|
NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)
|
|
|
NM_001256715.2(DNAAF3):c.161_162del (p.Ser54fs)
|
rs780701843
|
|
NM_001256715.2(DNAAF3):c.164_165del (p.Val55fs)
|
rs770306950
|
|
NM_001256715.2(DNAAF3):c.172C>G (p.Arg58Gly)
|
rs1205985038
|
|
NM_001256715.2(DNAAF3):c.174del (p.His59fs)
|
rs1384651581
|
|
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=)
|
|
|
NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)
|
rs387907151
|
|
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=)
|
|
|
NM_001256715.2(DNAAF3):c.212C>G (p.Pro71Arg)
|
rs755945019
|
|
NM_001256715.2(DNAAF3):c.216C>A (p.Arg72=)
|
|
|
NM_001256715.2(DNAAF3):c.228+10G>A
|
rs528707553
|
|
NM_001256715.2(DNAAF3):c.228+17A>G
|
|
|
NM_001256715.2(DNAAF3):c.243G>A (p.Glu81=)
|
rs1272525932
|
|
NM_001256715.2(DNAAF3):c.245A>C (p.Asn82Thr)
|
|
|
NM_001256715.2(DNAAF3):c.246T>C (p.Asn82=)
|
|
|
NM_001256715.2(DNAAF3):c.250C>G (p.Leu84Val)
|
|
|
NM_001256715.2(DNAAF3):c.262G>A (p.Ala88Thr)
|
rs1568868472
|
|
NM_001256715.2(DNAAF3):c.28G>A (p.Gly10Ser)
|
|
|
NM_001256715.2(DNAAF3):c.301C>T (p.Pro101Ser)
|
|
|
NM_001256715.2(DNAAF3):c.303G>A (p.Pro101=)
|
|
|
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=)
|
|
|
NM_001256715.2(DNAAF3):c.322+13_322+16del
|
rs2085920706
|
|
NM_001256715.2(DNAAF3):c.323-11TC[2]
|
|
|
NM_001256715.2(DNAAF3):c.323-5dup
|
|
|
NM_001256715.2(DNAAF3):c.323-6C>T
|
|
|
NM_001256715.2(DNAAF3):c.333G>A (p.Glu111=)
|
|
|
NM_001256715.2(DNAAF3):c.340C>T (p.Leu114=)
|
|
|
NM_001256715.2(DNAAF3):c.357C>G (p.Asn119Lys)
|
|
|
NM_001256715.2(DNAAF3):c.357C>T (p.Asn119=)
|
|
|
NM_001256715.2(DNAAF3):c.359C>T (p.Ala120Val)
|
|
|
NM_001256715.2(DNAAF3):c.363G>C (p.Leu121=)
|
rs551100219
|
|
NM_001256715.2(DNAAF3):c.363_373del (p.Leu122fs)
|
rs1159887305
|
|
NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)
|
|
|
NM_001256715.2(DNAAF3):c.368G>A (p.Arg123His)
|
|
|
NM_001256715.2(DNAAF3):c.377T>G (p.Val126Gly)
|
|
|
NM_001256715.2(DNAAF3):c.380C>G (p.Ala127Gly)
|
rs1422887369
|
|
NM_001256715.2(DNAAF3):c.381C>T (p.Ala127=)
|
|
|
NM_001256715.2(DNAAF3):c.382G>A (p.Ala128Thr)
|
rs1599923566
|
|
NM_001256715.2(DNAAF3):c.384C>T (p.Ala128=)
|
|
|
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=)
|
rs1056296743
|
|
NM_001256715.2(DNAAF3):c.40G>C (p.Val14Leu)
|
|
|
NM_001256715.2(DNAAF3):c.42del (p.Ser15fs)
|
|
|
NM_001256715.2(DNAAF3):c.432C>T (p.Pro144=)
|
rs1346019516
|
|
NM_001256715.2(DNAAF3):c.435C>T (p.Asp145=)
|
|
|
NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)
|
|
|
NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)
|
|
|
NM_001256715.2(DNAAF3):c.462C>T (p.Leu154=)
|
rs1599923335
|
|
NM_001256715.2(DNAAF3):c.473C>T (p.Ala158Val)
|
|
|
NM_001256715.2(DNAAF3):c.480+2_480+9del
|
rs2147299107
|
|
NM_001256715.2(DNAAF3):c.480+5C>A
|
|
|
NM_001256715.2(DNAAF3):c.480+5C>T
|
rs757597159
|
|
NM_001256715.2(DNAAF3):c.481-3C>G
|
rs1599922783
|
|
NM_001256715.2(DNAAF3):c.481-8C>A
|
|
|
NM_001256715.2(DNAAF3):c.485G>T (p.Arg162Leu)
|
rs1060502832
|
|
NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp)
|
|
|
NM_001256715.2(DNAAF3):c.491G>T (p.Arg164Leu)
|
rs771839338
|
|
NM_001256715.2(DNAAF3):c.498C>T (p.Ala166=)
|
|
|
NM_001256715.2(DNAAF3):c.514C>G (p.Arg172Gly)
|
|
|
NM_001256715.2(DNAAF3):c.51G>A (p.Trp17Ter)
|
|
|
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)
|
rs2147297973
|
|
NM_001256715.2(DNAAF3):c.54C>A (p.Gly18=)
|
|
|
NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser)
|
|
|
NM_001256715.2(DNAAF3):c.576G>A (p.Ser192=)
|
rs755044326
|
|
NM_001256715.2(DNAAF3):c.576G>C (p.Ser192=)
|
|
|
NM_001256715.2(DNAAF3):c.580C>T (p.Leu194=)
|
|
|
NM_001256715.2(DNAAF3):c.587delinsTGGG (p.His196delinsLeuGly)
|
rs2085838084
|
|
NM_001256715.2(DNAAF3):c.594G>C (p.Leu198=)
|
|
|
NM_001256715.2(DNAAF3):c.598_611del (p.Ser200fs)
|
rs772829541
|
|
NM_001256715.2(DNAAF3):c.607_611dup (p.Arg205fs)
|
rs1060502831
|
|
NM_001256715.2(DNAAF3):c.618C>T (p.Arg206=)
|
|
|
NM_001256715.2(DNAAF3):c.619G>A (p.Gly207Ser)
|
|
|
NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)
|
|
|
NM_001256715.2(DNAAF3):c.649C>T (p.Leu217=)
|
|
|
NM_001256715.2(DNAAF3):c.650T>A (p.Leu217Gln)
|
rs2147297566
|
|
NM_001256715.2(DNAAF3):c.659_660delinsTT (p.Arg220Leu)
|
rs2085835582
|
|
NM_001256715.2(DNAAF3):c.660C>T (p.Arg220=)
|
|
|
NM_001256715.2(DNAAF3):c.663+11C>G
|
|
|
NM_001256715.2(DNAAF3):c.663+20G>A
|
|
|
NM_001256715.2(DNAAF3):c.664-13C>T
|
|
|
NM_001256715.2(DNAAF3):c.664-2_681dup
|
|
|
NM_001256715.2(DNAAF3):c.664-8C>A
|
|
|
NM_001256715.2(DNAAF3):c.665C>A (p.Ala222Asp)
|
|
|
NM_001256715.2(DNAAF3):c.665C>T (p.Ala222Val)
|
rs866731630
|
|
NM_001256715.2(DNAAF3):c.702G>A (p.Arg234=)
|
|
|
NM_001256715.2(DNAAF3):c.704A>C (p.Asp235Ala)
|
|
|
NM_001256715.2(DNAAF3):c.708A>G (p.Thr236=)
|
rs1253487279
|
|
NM_001256715.2(DNAAF3):c.712G>A (p.Val238Ile)
|
rs1380206004
|
|
NM_001256715.2(DNAAF3):c.72C>T (p.Asp24=)
|
|
|
NM_001256715.2(DNAAF3):c.730G>T (p.Asp244Tyr)
|
rs1461569802
|
|
NM_001256715.2(DNAAF3):c.739G>A (p.Ala247Thr)
|
rs2085827314
|
|
NM_001256715.2(DNAAF3):c.767C>G (p.Ala256Gly)
|
rs201937522
|
|
NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)
|
|
|
NM_001256715.2(DNAAF3):c.771C>T (p.Ser257=)
|
rs1319853706
|
|
NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala)
|
|
|
NM_001256715.2(DNAAF3):c.775C>T (p.Arg259Cys)
|
rs765974072
|
|
NM_001256715.2(DNAAF3):c.781C>T (p.Leu261=)
|
rs2147296328
|
|
NM_001256715.2(DNAAF3):c.783G>T (p.Leu261=)
|
|
|
NM_001256715.2(DNAAF3):c.789+5G>A
|
|
|
NM_001256715.2(DNAAF3):c.789+5G>C
|
rs376485677
|
|
NM_001256715.2(DNAAF3):c.789C>T (p.Tyr263=)
|
|
|
NM_001256715.2(DNAAF3):c.790-12C>A
|
|
|
NM_001256715.2(DNAAF3):c.800G>C (p.Arg267Pro)
|
|
|
NM_001256715.2(DNAAF3):c.819C>T (p.Tyr273=)
|
rs755713483
|
|
NM_001256715.2(DNAAF3):c.826G>A (p.Asp276Asn)
|
rs1353927924
|
|
NM_001256715.2(DNAAF3):c.826G>C (p.Asp276His)
|
rs1353927924
|
|
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
|
|
|
NM_001256715.2(DNAAF3):c.849_863del (p.Phe285_Ala289del)
|
|
|
NM_001256715.2(DNAAF3):c.85+10A>C
|
|
|
NM_001256715.2(DNAAF3):c.85+17A>G
|
|
|
NM_001256715.2(DNAAF3):c.85+2T>G
|
|
|
NM_001256715.2(DNAAF3):c.85+3G>C
|
|
|
NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)
|
|
|
NM_001256715.2(DNAAF3):c.855C>T (p.Phe285=)
|
|
|
NM_001256715.2(DNAAF3):c.86-1G>T
|
|
|
NM_001256715.2(DNAAF3):c.86-28G>A
|
rs2085932710
|
|
NM_001256715.2(DNAAF3):c.86-49G>A
|
|
|
NM_001256715.2(DNAAF3):c.86-57C>A
|
|
|
NM_001256715.2(DNAAF3):c.86-61_86-52del
|
|
|
NM_001256715.2(DNAAF3):c.86-62G>A
|
rs777155853
|
|
NM_001256715.2(DNAAF3):c.86-68T>C
|
|
|
NM_001256715.2(DNAAF3):c.86-68dup
|
rs775192993
|
|
NM_001256715.2(DNAAF3):c.86-6del
|
|
|
NM_001256715.2(DNAAF3):c.86-70T>G
|
rs369434675
|
|
NM_001256715.2(DNAAF3):c.862G>A (p.Glu288Lys)
|
|
|
NM_001256715.2(DNAAF3):c.871G>A (p.Asp291Asn)
|
|
|
NM_001256715.2(DNAAF3):c.880C>T (p.Leu294Phe)
|
|
|
NM_001256715.2(DNAAF3):c.891G>C (p.Thr297=)
|
|
|
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)
|
rs2085819579
|
|
NM_001256715.2(DNAAF3):c.912+10G>A
|
|
|
NM_001256715.2(DNAAF3):c.912+13G>C
|
|
|
NM_001256715.2(DNAAF3):c.912+13del
|
|
|
NM_001256715.2(DNAAF3):c.912+4C>A
|
rs2085819392
|
|
NM_001256715.2(DNAAF3):c.912+5G>A
|
|
|
NM_001256715.2(DNAAF3):c.912+7G>A
|
|
|
NM_001256715.2(DNAAF3):c.913-9T>C
|
|
|
NM_001256715.2(DNAAF3):c.914C>A (p.Thr305Lys)
|
|
|
NM_001256715.2(DNAAF3):c.915G>A (p.Thr305=)
|
rs886054640
|
|
NM_001256715.2(DNAAF3):c.915G>T (p.Thr305=)
|
rs886054640
|
|
NM_001256715.2(DNAAF3):c.918C>G (p.Ala306=)
|
|
|
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
|
|
|
NM_001256715.2(DNAAF3):c.936C>T (p.His312=)
|
rs1257841129
|
|
NM_001256715.2(DNAAF3):c.945G>A (p.Thr315=)
|
|
|
NM_001256715.2(DNAAF3):c.94G>T (p.Val32Leu)
|
|
|
NM_001256715.2(DNAAF3):c.951G>C (p.Leu317=)
|
|
|
NM_001256715.2(DNAAF3):c.9A>G (p.Thr3=)
|
|
|