NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_001023570.4(IQCB1):c.-193T>C
|
rs114555283
|
0.02852
|
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)
|
rs11920543
|
0.01165
|
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu)
|
rs11926958
|
0.01125
|
NM_001023570.4(IQCB1):c.-178C>T
|
rs191557781
|
0.00949
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro)
|
rs145400780
|
0.00143
|
NM_001023570.4(IQCB1):c.*218G>A
|
rs552311575
|
0.00110
|
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys)
|
rs146796158
|
0.00067
|
NM_001023570.4(IQCB1):c.393+15A>G
|
rs369407077
|
0.00058
|
NM_001023570.4(IQCB1):c.877-11C>T
|
rs192296154
|
0.00045
|
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)
|
rs199959360
|
0.00040
|
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe)
|
rs146580215
|
0.00036
|
NM_001023570.4(IQCB1):c.-147del
|
rs886057829
|
0.00034
|
NM_001023570.4(IQCB1):c.-190C>T
|
rs145282757
|
0.00032
|
NM_001023570.4(IQCB1):c.987-17C>T
|
rs187649158
|
0.00029
|
NM_001023570.3(IQCB1):c.-215C>T
|
rs541891117
|
0.00026
|
NM_001023570.4(IQCB1):c.*148T>C
|
rs190963373
|
0.00026
|
NM_001023570.4(IQCB1):c.264-10C>T
|
rs199800276
|
0.00025
|
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln)
|
rs772153735
|
0.00015
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_001023570.4(IQCB1):c.588-5A>G
|
rs370451583
|
0.00015
|
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=)
|
rs201319850
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln)
|
rs532987681
|
0.00010
|
NM_001023570.4(IQCB1):c.588-16T>A
|
rs766712921
|
0.00010
|
NM_001023570.4(IQCB1):c.767-12A>G
|
rs367899924
|
0.00010
|
NM_001023570.4(IQCB1):c.*151T>C
|
rs1019317263
|
0.00009
|
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn)
|
rs137890014
|
0.00009
|
NM_001023570.4(IQCB1):c.1130-11C>A
|
rs373634080
|
0.00009
|
NM_001023570.4(IQCB1):c.1518C>T (p.His506=)
|
rs552232586
|
0.00009
|
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=)
|
rs372658786
|
0.00009
|
NM_001023570.4(IQCB1):c.-12-4A>T
|
rs760242984
|
0.00008
|
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser)
|
rs780327292
|
0.00008
|
NM_001023570.4(IQCB1):c.68A>G (p.Gln23Arg)
|
rs200205161
|
0.00008
|
NM_001023570.4(IQCB1):c.1335A>T (p.Arg445=)
|
rs772003773
|
0.00007
|
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr)
|
rs150073223
|
0.00007
|
NM_001023570.4(IQCB1):c.877-10G>A
|
rs371057369
|
0.00007
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=)
|
rs146776796
|
0.00006
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)
|
rs373762948
|
0.00006
|
NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn)
|
rs762365184
|
0.00006
|
NM_001023570.4(IQCB1):c.245A>G (p.Gln82Arg)
|
rs373644565
|
0.00006
|
NM_001023570.4(IQCB1):c.986+5A>C
|
rs188368640
|
0.00006
|
NM_001023570.4(IQCB1):c.1551C>T (p.Asn517=)
|
rs768494533
|
0.00005
|
NM_001023570.4(IQCB1):c.876+19A>G
|
rs368053119
|
0.00005
|
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys)
|
rs371844518
|
0.00004
|
NM_001023570.4(IQCB1):c.1129+13A>G
|
rs371443898
|
0.00004
|
NM_001023570.4(IQCB1):c.1129+17A>G
|
rs747623180
|
0.00004
|
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln)
|
rs773223673
|
0.00004
|
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser)
|
rs750396752
|
0.00004
|
NM_001023570.4(IQCB1):c.1278+3G>A
|
rs760377282
|
0.00004
|
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)
|
rs778777318
|
0.00004
|
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg)
|
rs149207095
|
0.00004
|
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=)
|
rs149152786
|
0.00004
|
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr)
|
rs766439338
|
0.00004
|
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)
|
rs139299149
|
0.00004
|
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser)
|
rs368772723
|
0.00004
|
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg)
|
rs376700204
|
0.00004
|
NM_001023570.4(IQCB1):c.1050A>G (p.Leu350=)
|
rs763014533
|
0.00003
|
NM_001023570.4(IQCB1):c.1191T>C (p.His397=)
|
rs556134592
|
0.00003
|
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr)
|
rs776989189
|
0.00003
|
NM_001023570.4(IQCB1):c.1567+3A>G
|
rs1403759372
|
0.00003
|
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs)
|
rs767295178
|
0.00003
|
NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu)
|
rs750584360
|
0.00003
|
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile)
|
rs1001594561
|
0.00003
|
NM_001023570.4(IQCB1):c.587+11T>G
|
rs571543000
|
0.00003
|
NM_001023570.4(IQCB1):c.620T>C (p.Leu207Pro)
|
rs764639627
|
0.00003
|
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu)
|
rs370459157
|
0.00003
|
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)
|
rs886057828
|
0.00003
|
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val)
|
rs1040002145
|
0.00003
|
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu)
|
rs141949168
|
0.00003
|
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu)
|
rs756776335
|
0.00003
|
NM_001023570.4(IQCB1):c.911A>G (p.Tyr304Cys)
|
rs147164945
|
0.00003
|
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val)
|
rs143553764
|
0.00002
|
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg)
|
rs200158965
|
0.00002
|
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg)
|
rs545361604
|
0.00002
|
NM_001023570.4(IQCB1):c.1304G>A (p.Arg435His)
|
rs146832128
|
0.00002
|
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln)
|
rs377265463
|
0.00002
|
NM_001023570.4(IQCB1):c.1367T>G (p.Val456Gly)
|
rs1456257526
|
0.00002
|
NM_001023570.4(IQCB1):c.1368T>G (p.Val456=)
|
rs773593065
|
0.00002
|
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
|
rs147708058
|
0.00002
|
NM_001023570.4(IQCB1):c.155A>G (p.Asp52Gly)
|
rs763814255
|
0.00002
|
NM_001023570.4(IQCB1):c.1567+5del
|
rs1318948819
|
0.00002
|
NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala)
|
rs753029218
|
0.00002
|
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His)
|
rs1283756243
|
0.00002
|
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=)
|
rs376703708
|
0.00002
|
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)
|
rs760296374
|
0.00002
|
NM_001023570.4(IQCB1):c.876+12C>T
|
rs541723424
|
0.00002
|
NM_001023570.4(IQCB1):c.877-8C>G
|
rs779916519
|
0.00002
|
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg)
|
rs377524012
|
0.00002
|
NM_001023570.4(IQCB1):c.987-15C>G
|
rs549731597
|
0.00002
|
NM_001023570.4(IQCB1):c.*160C>T
|
rs1490063473
|
0.00001
|
NM_001023570.4(IQCB1):c.*327T>C
|
rs777172993
|
0.00001
|
NM_001023570.4(IQCB1):c.*399A>G
|
rs1466189762
|
0.00001
|
NM_001023570.4(IQCB1):c.-179G>A
|
rs1449304531
|
0.00001
|
NM_001023570.4(IQCB1):c.101-9T>A
|
rs753647177
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1040A>T (p.Asp347Val)
|
rs1362995395
|
0.00001
|
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)
|
rs760548277
|
0.00001
|
NM_001023570.4(IQCB1):c.1269T>G (p.Leu423=)
|
rs765566806
|
0.00001
|
NM_001023570.4(IQCB1):c.1278+9A>G
|
rs774535665
|
0.00001
|
NM_001023570.4(IQCB1):c.1279-16A>G
|
rs754160972
|
0.00001
|
NM_001023570.4(IQCB1):c.1287A>G (p.Lys429=)
|
rs776326876
|
0.00001
|
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val)
|
rs150129899
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)
|
rs886057824
|
0.00001
|
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln)
|
rs766072332
|
0.00001
|
NM_001023570.4(IQCB1):c.1406A>G (p.His469Arg)
|
rs898997712
|
0.00001
|
NM_001023570.4(IQCB1):c.1411-4C>T
|
rs1220175972
|
0.00001
|
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val)
|
rs764720012
|
0.00001
|
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp)
|
rs746090954
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=)
|
rs754875338
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln)
|
rs200367729
|
0.00001
|
NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser)
|
rs774106373
|
0.00001
|
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile)
|
rs1484442908
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001023570.4(IQCB1):c.1568-10T>C
|
rs762667783
|
0.00001
|
NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr)
|
rs1445502603
|
0.00001
|
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg)
|
rs1390983530
|
0.00001
|
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val)
|
rs542335278
|
0.00001
|
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)
|
rs1399676175
|
0.00001
|
NM_001023570.4(IQCB1):c.180A>G (p.Gln60=)
|
rs1489496240
|
0.00001
|
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln)
|
rs777328728
|
0.00001
|
NM_001023570.4(IQCB1):c.252A>G (p.Thr84=)
|
rs200461388
|
0.00001
|
NM_001023570.4(IQCB1):c.259T>C (p.Leu87=)
|
rs750343777
|
0.00001
|
NM_001023570.4(IQCB1):c.263+18G>A
|
rs201677425
|
0.00001
|
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr)
|
rs370233738
|
0.00001
|
NM_001023570.4(IQCB1):c.281T>G (p.Leu94Trp)
|
rs1482031301
|
0.00001
|
NM_001023570.4(IQCB1):c.31T>C (p.Leu11=)
|
rs1413516964
|
0.00001
|
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His)
|
rs970350621
|
0.00001
|
NM_001023570.4(IQCB1):c.393+1G>C
|
rs1226321871
|
0.00001
|
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro)
|
rs1949717977
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001023570.4(IQCB1):c.488-7C>G
|
rs748749379
|
0.00001
|
NM_001023570.4(IQCB1):c.514T>A (p.Leu172Ile)
|
rs139516260
|
0.00001
|
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile)
|
rs1272185942
|
0.00001
|
NM_001023570.4(IQCB1):c.539T>C (p.Ile180Thr)
|
rs1336635253
|
0.00001
|
NM_001023570.4(IQCB1):c.588-2A>G
|
rs1250919247
|
0.00001
|
NM_001023570.4(IQCB1):c.622T>C (p.Tyr208His)
|
rs1373905023
|
0.00001
|
NM_001023570.4(IQCB1):c.636T>G (p.Asp212Glu)
|
rs202164315
|
0.00001
|
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile)
|
rs1278873318
|
0.00001
|
NM_001023570.4(IQCB1):c.693A>G (p.Thr231=)
|
rs750700698
|
0.00001
|
NM_001023570.4(IQCB1):c.761A>G (p.Tyr254Cys)
|
rs1484417223
|
0.00001
|
NM_001023570.4(IQCB1):c.766+5T>C
|
rs941589350
|
0.00001
|
NM_001023570.4(IQCB1):c.767-9C>A
|
rs758067297
|
0.00001
|
NM_001023570.4(IQCB1):c.776G>A (p.Arg259His)
|
rs374034270
|
0.00001
|
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
|
rs748559081
|
0.00001
|
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly)
|
rs886057826
|
0.00001
|
NM_001023570.4(IQCB1):c.846C>T (p.Ser282=)
|
rs943151135
|
0.00001
|
NM_001023570.4(IQCB1):c.850A>G (p.Met284Val)
|
rs148569732
|
0.00001
|
NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe)
|
rs1467393686
|
0.00001
|
NM_001023570.4(IQCB1):c.86T>C (p.Leu29Pro)
|
rs760120237
|
0.00001
|
NM_001023570.4(IQCB1):c.877-17T>C
|
rs778033432
|
0.00001
|
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val)
|
rs756107852
|
0.00001
|
NM_001023570.4(IQCB1):c.894A>G (p.Ala298=)
|
rs1216152770
|
0.00001
|
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe)
|
rs1246747991
|
0.00001
|
NM_001023570.4(IQCB1):c.930A>G (p.Thr310=)
|
rs373066414
|
0.00001
|
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala)
|
rs749043070
|
0.00001
|
NM_001023570.4(IQCB1):c.980G>A (p.Ser327Asn)
|
rs377493667
|
0.00001
|
NM_001023570.4(IQCB1):c.986+14G>T
|
rs1163027442
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
NC_000003.11:g.(?_121489192)_(121489441_?)del
|
|
|
NC_000003.11:g.(?_121491404)_(121500721_?)dup
|
|
|
NC_000003.11:g.(?_121526171)_(121527876_?)del
|
|
|
NC_000003.11:g.(?_121547297)_(121547807_?)del
|
|
|
NC_000003.12:g.(?_121772557)_(121781874_?)del
|
|
|
NM_001023570.4(IQCB1):c.*197G>C
|
rs1135750
|
|
NM_001023570.4(IQCB1):c.*226T>C
|
rs886057822
|
|
NM_001023570.4(IQCB1):c.-147_-142del
|
rs72421117
|
|
NM_001023570.4(IQCB1):c.-154T>G
|
rs886057830
|
|
NM_001023570.4(IQCB1):c.-185C>G
|
rs553719849
|
|
NM_001023570.4(IQCB1):c.100+1G>A
|
|
|
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu)
|
rs532987681
|
|
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
|
|
|
NM_001023570.4(IQCB1):c.101-13C>T
|
|
|
NM_001023570.4(IQCB1):c.101-14T>G
|
rs200820580
|
|
NM_001023570.4(IQCB1):c.101-18T>G
|
rs2108643441
|
|
NM_001023570.4(IQCB1):c.101-1G>A
|
rs1372024420
|
|
NM_001023570.4(IQCB1):c.101-1G>T
|
|
|
NM_001023570.4(IQCB1):c.101-4T>G
|
rs1950533086
|
|
NM_001023570.4(IQCB1):c.101-6C>T
|
|
|
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
|
|
|
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001023570.4(IQCB1):c.1054T>C (p.Leu352=)
|
rs2108548136
|
|
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
|
|
|
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)
|
|
|
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
|
|
|
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)
|
rs121918245
|
|
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
|
|
|
NM_001023570.4(IQCB1):c.1098G>A (p.Leu366=)
|
|
|
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)
|
rs1576559094
|
|
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
|
|
|
NM_001023570.4(IQCB1):c.1130-14dup
|
rs1559763497
|
|
NM_001023570.4(IQCB1):c.1130-19G>C
|
|
|
NM_001023570.4(IQCB1):c.1130-20A>G
|
|
|
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met)
|
rs886057825
|
|
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
|
|
|
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
|
|
|
NM_001023570.4(IQCB1):c.1167A>G (p.Lys389=)
|
rs773702869
|
|
NM_001023570.4(IQCB1):c.1181T>G (p.Ile394Ser)
|
rs2108543749
|
|
NM_001023570.4(IQCB1):c.1184A>T (p.Gln395Leu)
|
|
|
NM_001023570.4(IQCB1):c.1190A>G (p.His397Arg)
|
|
|
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)
|
rs1948821736
|
|
NM_001023570.4(IQCB1):c.1206G>A (p.Arg402=)
|
rs2108543655
|
|
NM_001023570.4(IQCB1):c.1210A>C (p.Arg404=)
|
rs1354344876
|
|
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly)
|
rs1354344876
|
|
NM_001023570.4(IQCB1):c.1212G>A (p.Arg404=)
|
rs2108543616
|
|
NM_001023570.4(IQCB1):c.1215A>G (p.Lys405=)
|
rs1264884946
|
|
NM_001023570.4(IQCB1):c.1226A>G (p.Gln409Arg)
|
rs368525345
|
|
NM_001023570.4(IQCB1):c.1235A>T (p.Gln412Leu)
|
rs199533438
|
|
NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val)
|
rs1948818458
|
|
NM_001023570.4(IQCB1):c.1240C>T (p.Leu414Phe)
|
rs1948818458
|
|
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe)
|
rs777697438
|
|
NM_001023570.4(IQCB1):c.1253A>C (p.Lys418Thr)
|
|
|
NM_001023570.4(IQCB1):c.126A>G (p.Gly42=)
|
rs2108643287
|
|
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys)
|
rs1450149889
|
|
NM_001023570.4(IQCB1):c.1278+12G>A
|
rs2108543099
|
|
NM_001023570.4(IQCB1):c.1278+7C>T
|
rs112780863
|
|
NM_001023570.4(IQCB1):c.1279-10_1279-8del
|
|
|
NM_001023570.4(IQCB1):c.1279-14T>G
|
|
|
NM_001023570.4(IQCB1):c.1279-15T>A
|
|
|
NM_001023570.4(IQCB1):c.1279-17A>C
|
|
|
NM_001023570.4(IQCB1):c.1279-8del
|
rs758519096
|
|
NM_001023570.4(IQCB1):c.1280C>A (p.Ala427Glu)
|
rs138646990
|
|
NM_001023570.4(IQCB1):c.1280C>T (p.Ala427Val)
|
rs138646990
|
|
NM_001023570.4(IQCB1):c.1296G>A (p.Ala432=)
|
rs761109901
|
|
NM_001023570.4(IQCB1):c.1296G>T (p.Ala432=)
|
rs761109901
|
|
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
|
|
|
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro)
|
rs749515337
|
|
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
|
|
|
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
|
|
|
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
|
|
|
NM_001023570.4(IQCB1):c.1371A>G (p.Glu457=)
|
|
|
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter)
|
rs2108643223
|
|
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
|
|
|
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
|
|
|
NM_001023570.4(IQCB1):c.1410+13T>C
|
|
|
NM_001023570.4(IQCB1):c.1410+18C>T
|
rs886038375
|
|
NM_001023570.4(IQCB1):c.1410+19A>G
|
|
|
NM_001023570.4(IQCB1):c.1410+74AT[4]
|
rs1553709033
|
|
NM_001023570.4(IQCB1):c.1410+81GT[17]
|
rs57816005
|
|
NM_001023570.4(IQCB1):c.1411-12C>G
|
|
|
NM_001023570.4(IQCB1):c.1411-6T>A
|
|
|
NM_001023570.4(IQCB1):c.1418C>T (p.Pro473Leu)
|
|
|
NM_001023570.4(IQCB1):c.142A>G (p.Lys48Glu)
|
|
|
NM_001023570.4(IQCB1):c.1443G>A (p.Glu481=)
|
|
|
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr)
|
rs776788131
|
|
NM_001023570.4(IQCB1):c.1465C>A (p.Arg489=)
|
|
|
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr)
|
rs2108507338
|
|
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)
|
|
|
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser)
|
rs1346401319
|
|
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
|
|
|
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
|
|
|
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
|
|
|
NM_001023570.4(IQCB1):c.150A>G (p.Lys50=)
|
|
|
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
|
|
|
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
|
|
|
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn)
|
rs2108507224
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His)
|
rs773874600
|
|
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile)
|
rs886057823
|
|
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp)
|
rs139468837
|
|
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
|
|
|
NM_001023570.4(IQCB1):c.1563A>G (p.Leu521=)
|
|
|
NM_001023570.4(IQCB1):c.1567+10C>G
|
|
|
NM_001023570.4(IQCB1):c.1567+17C>T
|
|
|
NM_001023570.4(IQCB1):c.1567+20T>C
|
|
|
NM_001023570.4(IQCB1):c.1567+2_*2del
|
|
|
NM_001023570.4(IQCB1):c.1567+4T>C
|
|
|
NM_001023570.4(IQCB1):c.1568-11G>A
|
|
|
NM_001023570.4(IQCB1):c.1568-13C>T
|
|
|
NM_001023570.4(IQCB1):c.1568-19T>A
|
|
|
NM_001023570.4(IQCB1):c.1568-19del
|
rs148949254
|
|
NM_001023570.4(IQCB1):c.1568-6C>T
|
|
|
NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser)
|
|
|
NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg)
|
|
|
NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu)
|
rs2108503429
|
|
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu)
|
rs200719828
|
|
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
|
|
|
NM_001023570.4(IQCB1):c.1605T>C (p.Pro535=)
|
|
|
NM_001023570.4(IQCB1):c.1608G>A (p.Glu536=)
|
rs1947928282
|
|
NM_001023570.4(IQCB1):c.1647C>G (p.Ala549=)
|
|
|
NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val)
|
|
|
NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile)
|
rs2108503202
|
|
NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp)
|
rs1947924234
|
|
NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val)
|
|
|
NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala)
|
|
|
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg)
|
rs767653545
|
|
NM_001023570.4(IQCB1):c.1689C>T (p.Pro563=)
|
rs1947922675
|
|
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr)
|
rs1950530790
|
|
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala)
|
rs749733618
|
|
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
|
|
|
NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=)
|
|
|
NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter)
|
rs2108503098
|
|
NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn)
|
|
|
NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln)
|
rs2108503039
|
|
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr)
|
rs199775360
|
|
NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=)
|
rs1215687445
|
|
NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=)
|
|
|
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter)
|
rs1947917811
|
|
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter)
|
rs776023179
|
|
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)
|
rs1553722736
|
|
NM_001023570.4(IQCB1):c.263+1G>T
|
|
|
NM_001023570.4(IQCB1):c.264-17T>C
|
rs569996040
|
|
NM_001023570.4(IQCB1):c.264-18C>A
|
|
|
NM_001023570.4(IQCB1):c.264-20A>C
|
rs772081031
|
|
NM_001023570.4(IQCB1):c.264-2A>T
|
rs727503969
|
|
NM_001023570.4(IQCB1):c.264-3C>T
|
rs1950460725
|
|
NM_001023570.4(IQCB1):c.264-5T>A
|
|
|
NM_001023570.4(IQCB1):c.264-8T>C
|
|
|
NM_001023570.4(IQCB1):c.273dup (p.Val92fs)
|
rs1201853761
|
|
NM_001023570.4(IQCB1):c.280T>C (p.Leu94=)
|
rs2108637684
|
|
NM_001023570.4(IQCB1):c.295G>A (p.Asp99Asn)
|
rs1950459236
|
|
NM_001023570.4(IQCB1):c.298G>A (p.Ala100Thr)
|
|
|
NM_001023570.4(IQCB1):c.29T>A (p.Ile10Asn)
|
|
|
NM_001023570.4(IQCB1):c.30C>A (p.Ile10=)
|
rs745953463
|
|
NM_001023570.4(IQCB1):c.314A>G (p.Asn105Ser)
|
rs1950458495
|
|
NM_001023570.4(IQCB1):c.319T>A (p.Leu107Ile)
|
rs2108637533
|
|
NM_001023570.4(IQCB1):c.332C>T (p.Ala111Val)
|
|
|
NM_001023570.4(IQCB1):c.333del (p.Ala112fs)
|
rs786200929
|
|
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His)
|
rs2108637450
|
|
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter)
|
rs1372460709
|
|
NM_001023570.4(IQCB1):c.362A>G (p.Gln121Arg)
|
rs2108637383
|
|
NM_001023570.4(IQCB1):c.366A>C (p.Leu122Phe)
|
rs766755059
|
|
NM_001023570.4(IQCB1):c.369A>T (p.Gln123His)
|
rs970350621
|
|
NM_001023570.4(IQCB1):c.385G>C (p.Ala129Pro)
|
rs767567960
|
|
NM_001023570.4(IQCB1):c.387A>C (p.Ala129=)
|
|
|
NM_001023570.4(IQCB1):c.392A>G (p.Lys131Arg)
|
rs1576616726
|
|
NM_001023570.4(IQCB1):c.393+15A>C
|
|
|
NM_001023570.4(IQCB1):c.393+8T>A
|
|
|
NM_001023570.4(IQCB1):c.394-15_394-10dup
|
rs768572151
|
|
NM_001023570.4(IQCB1):c.394-1G>A
|
|
|
NM_001023570.4(IQCB1):c.394-3A>G
|
|
|
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
|
|
|
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)
|
rs2108595322
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs)
|
rs1156803164
|
|
NM_001023570.4(IQCB1):c.447C>T (p.Leu149=)
|
rs906059556
|
|
NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg)
|
|
|
NM_001023570.4(IQCB1):c.461G>A (p.Gly154Glu)
|
rs376120512
|
|
NM_001023570.4(IQCB1):c.479T>C (p.Ile160Thr)
|
|
|
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)
|
|
|
NM_001023570.4(IQCB1):c.487+17T>C
|
|
|
NM_001023570.4(IQCB1):c.487+19A>G
|
rs752104367
|
|
NM_001023570.4(IQCB1):c.487+6A>G
|
|
|
NM_001023570.4(IQCB1):c.487+9A>T
|
|
|
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
|
|
|
NM_001023570.4(IQCB1):c.488-13del
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.488-13dup
|
rs753164790
|
|
NM_001023570.4(IQCB1):c.488-22_488-19del
|
|
|
NM_001023570.4(IQCB1):c.488-2A>G
|
|
|
NM_001023570.4(IQCB1):c.488-5T>G
|
|
|
NM_001023570.4(IQCB1):c.490C>T (p.Leu164=)
|
|
|
NM_001023570.4(IQCB1):c.490del (p.Leu164fs)
|
rs2108591614
|
|
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro)
|
rs746194022
|
|
NM_001023570.4(IQCB1):c.493C>G (p.Gln165Glu)
|
rs781508757
|
|
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
|
|
|
NM_001023570.4(IQCB1):c.549A>C (p.Ala183=)
|
|
|
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile)
|
|
|
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
|
|
|
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe)
|
rs1412812453
|
|
NM_001023570.4(IQCB1):c.588-16del
|
rs574290389
|
|
NM_001023570.4(IQCB1):c.588-18T>A
|
|
|
NM_001023570.4(IQCB1):c.588-25dup
|
rs574290389
|
|
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter)
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rs2108571563
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NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys)
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NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
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NM_001023570.4(IQCB1):c.634G>C (p.Asp212His)
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NM_001023570.4(IQCB1):c.635A>G (p.Asp212Gly)
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NM_001023570.4(IQCB1):c.64G>C (p.Glu22Gln)
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rs1473351493
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NM_001023570.4(IQCB1):c.65A>G (p.Glu22Gly)
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NM_001023570.4(IQCB1):c.664C>T (p.Pro222Ser)
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NM_001023570.4(IQCB1):c.688G>A (p.Ala230Thr)
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NM_001023570.4(IQCB1):c.704T>A (p.Leu235Gln)
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rs1949315817
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NM_001023570.4(IQCB1):c.705G>A (p.Leu235=)
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NM_001023570.4(IQCB1):c.722A>G (p.His241Arg)
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rs886057827
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NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs)
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rs773848660
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NM_001023570.4(IQCB1):c.757del (p.Cys253fs)
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rs1949313357
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NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
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rs770441610
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NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
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NM_001023570.4(IQCB1):c.75C>G (p.Val25=)
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NM_001023570.4(IQCB1):c.766+19_766+22del
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NM_001023570.4(IQCB1):c.767-11T>C
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NM_001023570.4(IQCB1):c.767-2A>G
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rs2108566215
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NM_001023570.4(IQCB1):c.767-9C>T
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NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly)
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rs2108566176
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NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)
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rs778777181
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NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
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NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln)
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rs199959360
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NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)
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rs1949231887
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NM_001023570.4(IQCB1):c.804T>G (p.Thr268=)
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rs765859616
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NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
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NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)
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rs1474058708
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NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
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NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)
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rs1949225959
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NM_001023570.4(IQCB1):c.864A>G (p.Glu288=)
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NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys)
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rs1030791636
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NM_001023570.4(IQCB1):c.876+12dup
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NM_001023570.4(IQCB1):c.876+16A>T
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NM_001023570.4(IQCB1):c.876+18_876+24del
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NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
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NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser)
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rs1949147133
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NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
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rs745340459
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NM_001023570.4(IQCB1):c.904C>A (p.Gln302Lys)
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rs756776335
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NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr)
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rs1471637477
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NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)
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rs772827691
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NM_001023570.4(IQCB1):c.927G>C (p.Gln309His)
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rs2108561479
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NM_001023570.4(IQCB1):c.948G>A (p.Lys316=)
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NM_001023570.4(IQCB1):c.96A>G (p.Leu32=)
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NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)
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NM_001023570.4(IQCB1):c.983dup (p.Arg329fs)
|
rs1949141890
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NM_001023570.4(IQCB1):c.986+20G>A
|
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NM_001023570.4(IQCB1):c.986+9del
|
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