NM_012144.4(DNAI1):c.1489+130G>A
|
rs9657620
|
0.44707
|
NM_012144.4(DNAI1):c.902-125G>T
|
rs4878575
|
0.44633
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_012144.4(DNAI1):c.1019+42C>T
|
rs10814116
|
0.15511
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
NM_012144.4(DNAI1):c.1401+17G>A
|
rs138412741
|
0.00773
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)
|
rs76334696
|
0.00575
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_012144.4(DNAI1):c.2001+19T>A
|
rs144066349
|
0.00281
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
NM_012144.4(DNAI1):c.1902C>T (p.His634=)
|
rs139197229
|
0.00156
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
NM_012144.4(DNAI1):c.81+61A>G
|
rs192896482
|
0.00122
|
NM_012144.4(DNAI1):c.1177G>A (p.Val393Met)
|
rs141089746
|
0.00068
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
NM_012144.4(DNAI1):c.1570-7C>T
|
rs200144108
|
0.00060
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00059
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
|
rs116938457
|
0.00053
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=)
|
rs376496298
|
0.00043
|
NM_012144.4(DNAI1):c.-41T>C
|
rs200245894
|
0.00041
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
NM_012144.4(DNAI1):c.276G>A (p.Lys92=)
|
rs140983343
|
0.00029
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00020
|
NM_012144.4(DNAI1):c.1401+7A>G
|
rs370745702
|
0.00019
|
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr)
|
rs148238282
|
0.00017
|
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr)
|
rs138460682
|
0.00017
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln)
|
rs141704318
|
0.00014
|
NM_012144.4(DNAI1):c.741G>A (p.Lys247=)
|
rs562408105
|
0.00014
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_012144.4(DNAI1):c.873C>T (p.Asn291=)
|
rs149755302
|
0.00013
|
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)
|
rs1451350869
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_012144.4(DNAI1):c.48+3A>G
|
rs771238788
|
0.00012
|
NM_012144.4(DNAI1):c.1019+7A>G
|
rs200720794
|
0.00009
|
NM_012144.4(DNAI1):c.262-10C>G
|
rs371157271
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
NM_012144.4(DNAI1):c.1570-6G>A
|
rs370622070
|
0.00008
|
NM_012144.4(DNAI1):c.682-15C>G
|
rs199865010
|
0.00008
|
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)
|
rs148762102
|
0.00007
|
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
0.00007
|
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=)
|
rs113249236
|
0.00006
|
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn)
|
rs189377425
|
0.00006
|
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)
|
rs199774301
|
0.00006
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly)
|
rs147909279
|
0.00006
|
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp)
|
rs766328772
|
0.00006
|
NM_012144.4(DNAI1):c.432C>T (p.Leu144=)
|
rs758652167
|
0.00006
|
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile)
|
rs191840487
|
0.00006
|
NM_012144.4(DNAI1):c.816+8G>A
|
rs367872627
|
0.00006
|
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=)
|
rs376177487
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_012144.4(DNAI1):c.522A>G (p.Glu174=)
|
rs534713601
|
0.00005
|
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu)
|
rs755122846
|
0.00005
|
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)
|
rs146015192
|
0.00005
|
NM_012144.4(DNAI1):c.918C>T (p.Asp306=)
|
rs772207177
|
0.00005
|
NM_012144.4(DNAI1):c.1002C>T (p.Ser334=)
|
rs754233819
|
0.00004
|
NM_012144.4(DNAI1):c.1064-9C>T
|
rs764425574
|
0.00004
|
NM_012144.4(DNAI1):c.1152C>T (p.Ser384=)
|
rs145549023
|
0.00004
|
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)
|
rs549401132
|
0.00004
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser)
|
rs1056525406
|
0.00004
|
NM_012144.4(DNAI1):c.1401+3G>A
|
rs759795923
|
0.00004
|
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)
|
rs139953639
|
0.00004
|
NM_012144.4(DNAI1):c.1818+13G>A
|
rs369757755
|
0.00004
|
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)
|
rs201773877
|
0.00004
|
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg)
|
rs201313023
|
0.00004
|
NM_012144.4(DNAI1):c.371G>A (p.Arg124His)
|
rs759257177
|
0.00004
|
NM_012144.4(DNAI1):c.501+10A>C
|
rs765805502
|
0.00004
|
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn)
|
rs999905460
|
0.00004
|
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
|
rs202213517
|
0.00004
|
NM_012144.4(DNAI1):c.924T>C (p.Ala308=)
|
rs377594689
|
0.00004
|
NM_012144.4(DNAI1):c.963G>A (p.Pro321=)
|
rs762694599
|
0.00004
|
NM_012144.4(DNAI1):c.1064-20C>T
|
rs1571404
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile)
|
rs565923150
|
0.00003
|
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)
|
rs794727103
|
0.00003
|
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=)
|
rs200766993
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_012144.4(DNAI1):c.1773G>A (p.Ala591=)
|
rs547499630
|
0.00003
|
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)
|
rs149230619
|
0.00003
|
NM_012144.4(DNAI1):c.633C>T (p.Cys211=)
|
rs1021425002
|
0.00003
|
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter)
|
rs878854968
|
0.00003
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=)
|
rs756277063
|
0.00002
|
NM_012144.4(DNAI1):c.1344C>T (p.Asn448=)
|
rs780830330
|
0.00002
|
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=)
|
rs377601344
|
0.00002
|
NM_012144.4(DNAI1):c.1718+10C>T
|
rs538329068
|
0.00002
|
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=)
|
rs548602580
|
0.00002
|
NM_012144.4(DNAI1):c.174C>T (p.Thr58=)
|
rs752803659
|
0.00002
|
NM_012144.4(DNAI1):c.177T>C (p.Asp59=)
|
rs864622665
|
0.00002
|
NM_012144.4(DNAI1):c.1818+12C>T
|
rs770963117
|
0.00002
|
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
|
rs565034311
|
0.00002
|
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)
|
rs564706097
|
0.00002
|
NM_012144.4(DNAI1):c.2049G>A (p.Ala683=)
|
rs555612830
|
0.00002
|
NM_012144.4(DNAI1):c.2067G>C (p.Leu689=)
|
rs372932017
|
0.00002
|
NM_012144.4(DNAI1):c.228C>T (p.His76=)
|
rs760014707
|
0.00002
|
NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp)
|
rs370391949
|
0.00002
|
NM_012144.4(DNAI1):c.48+6G>C
|
rs962155265
|
0.00002
|
NM_012144.4(DNAI1):c.666A>C (p.Ser222=)
|
rs746805669
|
0.00002
|
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys)
|
rs755853256
|
0.00002
|
NM_012144.4(DNAI1):c.1019+5G>C
|
rs747121305
|
0.00001
|
NM_012144.4(DNAI1):c.1020-14A>T
|
rs777973486
|
0.00001
|
NM_012144.4(DNAI1):c.1064-4G>A
|
rs1254460885
|
0.00001
|
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp)
|
rs147893084
|
0.00001
|
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln)
|
rs372361587
|
0.00001
|
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala)
|
rs1470058689
|
0.00001
|
NM_012144.4(DNAI1):c.108A>G (p.Gly36=)
|
rs774972481
|
0.00001
|
NM_012144.4(DNAI1):c.1158C>T (p.Val386=)
|
rs1824938563
|
0.00001
|
NM_012144.4(DNAI1):c.1176C>T (p.His392=)
|
rs1300176358
|
0.00001
|
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=)
|
rs1368857115
|
0.00001
|
NM_012144.4(DNAI1):c.1311+8A>G
|
rs570716480
|
0.00001
|
NM_012144.4(DNAI1):c.1312-10G>A
|
rs752862667
|
0.00001
|
NM_012144.4(DNAI1):c.1312-2A>G
|
rs1188227820
|
0.00001
|
NM_012144.4(DNAI1):c.1312-4T>G
|
rs751375253
|
0.00001
|
NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr)
|
rs148810969
|
0.00001
|
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=)
|
rs1175634371
|
0.00001
|
NM_012144.4(DNAI1):c.1374C>G (p.Gly458=)
|
rs772610592
|
0.00001
|
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala)
|
rs1437841728
|
0.00001
|
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
NM_012144.4(DNAI1):c.1402-1G>A
|
rs1587089935
|
0.00001
|
NM_012144.4(DNAI1):c.1402-4A>G
|
rs761735222
|
0.00001
|
NM_012144.4(DNAI1):c.1410G>A (p.Leu470=)
|
rs374506251
|
0.00001
|
NM_012144.4(DNAI1):c.1432C>T (p.Leu478=)
|
rs1825082891
|
0.00001
|
NM_012144.4(DNAI1):c.1440G>A (p.Val480=)
|
rs1186642679
|
0.00001
|
NM_012144.4(DNAI1):c.1470G>T (p.Gly490=)
|
rs888186483
|
0.00001
|
NM_012144.4(DNAI1):c.1489+8C>A
|
rs547508610
|
0.00001
|
NM_012144.4(DNAI1):c.1490-2A>G
|
rs775831317
|
0.00001
|
NM_012144.4(DNAI1):c.1490-7T>C
|
rs1587090777
|
0.00001
|
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)
|
rs751920647
|
0.00001
|
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=)
|
rs751010917
|
0.00001
|
NM_012144.4(DNAI1):c.1569+10C>T
|
rs1168786289
|
0.00001
|
NM_012144.4(DNAI1):c.1569+1G>T
|
rs1465404366
|
0.00001
|
NM_012144.4(DNAI1):c.1587C>T (p.Ser529=)
|
rs1204149839
|
0.00001
|
NM_012144.4(DNAI1):c.1596C>T (p.Phe532=)
|
rs1384757596
|
0.00001
|
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala)
|
rs904725096
|
0.00001
|
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys)
|
rs144611423
|
0.00001
|
NM_012144.4(DNAI1):c.1614C>A (p.Ala538=)
|
rs1201989652
|
0.00001
|
NM_012144.4(DNAI1):c.1638G>A (p.Val546=)
|
rs1825132822
|
0.00001
|
NM_012144.4(DNAI1):c.1650A>C (p.Pro550=)
|
rs751744463
|
0.00001
|
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
|
rs147469181
|
0.00001
|
NM_012144.4(DNAI1):c.1692A>G (p.Thr564=)
|
rs778444720
|
0.00001
|
NM_012144.4(DNAI1):c.169T>C (p.Leu57=)
|
rs779175158
|
0.00001
|
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala)
|
rs1206542308
|
0.00001
|
NM_012144.4(DNAI1):c.1713C>T (p.Thr571=)
|
rs770312736
|
0.00001
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
NM_012144.4(DNAI1):c.1725G>A (p.Pro575=)
|
rs772459151
|
0.00001
|
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys)
|
rs760852851
|
0.00001
|
NM_012144.4(DNAI1):c.1752C>T (p.Ala584=)
|
rs374753474
|
0.00001
|
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val)
|
rs751197523
|
0.00001
|
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=)
|
rs201746512
|
0.00001
|
NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys)
|
rs1354143118
|
0.00001
|
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)
|
rs767207402
|
0.00001
|
NM_012144.4(DNAI1):c.1911C>T (p.Phe637=)
|
rs1825189433
|
0.00001
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
NM_012144.4(DNAI1):c.1968C>T (p.Leu656=)
|
rs772985657
|
0.00001
|
NM_012144.4(DNAI1):c.2002-6C>T
|
rs1174622504
|
0.00001
|
NM_012144.4(DNAI1):c.2002-8C>T
|
rs886038585
|
0.00001
|
NM_012144.4(DNAI1):c.2019G>A (p.Glu673=)
|
rs576215372
|
0.00001
|
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=)
|
rs1377892484
|
0.00001
|
NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser)
|
rs556105721
|
0.00001
|
NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln)
|
rs771320807
|
0.00001
|
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val)
|
rs535760702
|
0.00001
|
NM_012144.4(DNAI1):c.2073G>A (p.Leu691=)
|
rs780268562
|
0.00001
|
NM_012144.4(DNAI1):c.261+2T>G
|
rs1266767011
|
0.00001
|
NM_012144.4(DNAI1):c.27C>T (p.Pro9=)
|
rs755692713
|
0.00001
|
NM_012144.4(DNAI1):c.282T>C (p.Ile94=)
|
rs374541022
|
0.00001
|
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln)
|
rs375547221
|
0.00001
|
NM_012144.4(DNAI1):c.372C>T (p.Arg124=)
|
rs765026554
|
0.00001
|
NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr)
|
rs1403317407
|
0.00001
|
NM_012144.4(DNAI1):c.389-15C>T
|
rs886063881
|
0.00001
|
NM_012144.4(DNAI1):c.389-6A>G
|
rs878854966
|
0.00001
|
NM_012144.4(DNAI1):c.389-7T>C
|
rs1824553084
|
0.00001
|
NM_012144.4(DNAI1):c.465_466del (p.Glu156fs)
|
rs1392661120
|
0.00001
|
NM_012144.4(DNAI1):c.48+9C>G
|
rs746021545
|
0.00001
|
NM_012144.4(DNAI1):c.501+16G>A
|
rs373496626
|
0.00001
|
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile)
|
rs1400236913
|
0.00001
|
NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)
|
rs749302505
|
0.00001
|
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu)
|
rs1236356655
|
0.00001
|
NM_012144.4(DNAI1):c.591G>A (p.Arg197=)
|
rs775975599
|
0.00001
|
NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter)
|
rs763505357
|
0.00001
|
NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg)
|
rs752018316
|
0.00001
|
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp)
|
rs749119217
|
0.00001
|
NM_012144.4(DNAI1):c.622-6C>T
|
rs1416045438
|
0.00001
|
NM_012144.4(DNAI1):c.636G>A (p.Gln212=)
|
rs758269785
|
0.00001
|
NM_012144.4(DNAI1):c.676A>C (p.Asn226His)
|
rs769349211
|
0.00001
|
NM_012144.4(DNAI1):c.681+7C>A
|
rs200424920
|
0.00001
|
NM_012144.4(DNAI1):c.682-12A>G
|
rs755730248
|
0.00001
|
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr)
|
rs747538328
|
0.00001
|
NM_012144.4(DNAI1):c.708G>A (p.Glu236=)
|
rs765581497
|
0.00001
|
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu)
|
rs775818668
|
0.00001
|
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile)
|
rs1299113119
|
0.00001
|
NM_012144.4(DNAI1):c.81+17_81+18dup
|
rs779274308
|
0.00001
|
NM_012144.4(DNAI1):c.81+20T>C
|
rs572257884
|
0.00001
|
NM_012144.4(DNAI1):c.810G>A (p.Glu270=)
|
rs200945732
|
0.00001
|
NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter)
|
rs1290572246
|
0.00001
|
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser)
|
rs1824742637
|
0.00001
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
0.00001
|
NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn)
|
rs773243879
|
0.00001
|
NC_000009.11:g.(?_34483426)_(34520754_?)del
|
|
|
NC_000009.11:g.(?_34489301)_(34491572_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34489457_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34493336_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34520764_?)del
|
|
|
NC_000009.11:g.(?_34513100)_(34514747_?)del
|
|
|
NC_000009.11:g.(?_34520636)_(34520754_?)dup
|
|
|
NM_012144.4(DNAI1):c.*163C>G
|
rs1051948461
|
|
NM_012144.4(DNAI1):c.-1_4del (p.Met1fs)
|
|
|
NM_012144.4(DNAI1):c.1002C>A (p.Ser334=)
|
rs754233819
|
|
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)
|
rs11793196
|
|
NM_012144.4(DNAI1):c.1005C>T (p.Val335=)
|
|
|
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser)
|
rs1319380844
|
|
NM_012144.4(DNAI1):c.1011C>T (p.Ala337=)
|
rs758595604
|
|
NM_012144.4(DNAI1):c.1019+10G>C
|
rs1554689742
|
|
NM_012144.4(DNAI1):c.1019+10G>T
|
rs1554689742
|
|
NM_012144.4(DNAI1):c.1019+11G>T
|
|
|
NM_012144.4(DNAI1):c.1019+20_1019+28del
|
|
|
NM_012144.4(DNAI1):c.1019+9A>C
|
|
|
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
|
|
|
NM_012144.4(DNAI1):c.1020-10T>C
|
|
|
NM_012144.4(DNAI1):c.1020-10T>G
|
rs2132072437
|
|
NM_012144.4(DNAI1):c.1020-14A>G
|
|
|
NM_012144.4(DNAI1):c.1020-16A>G
|
|
|
NM_012144.4(DNAI1):c.1020-16A>T
|
|
|
NM_012144.4(DNAI1):c.1020-5del
|
|
|
NM_012144.4(DNAI1):c.1020-5dup
|
|
|
NM_012144.4(DNAI1):c.1020-9T>C
|
|
|
NM_012144.4(DNAI1):c.1029G>A (p.Lys343=)
|
|
|
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
|
|
|
NM_012144.4(DNAI1):c.1063+10C>T
|
rs2132072481
|
|
NM_012144.4(DNAI1):c.1063+16A>G
|
rs2132072492
|
|
NM_012144.4(DNAI1):c.1063+17T>C
|
|
|
NM_012144.4(DNAI1):c.1063+19C>T
|
rs794727066
|
|
NM_012144.4(DNAI1):c.1063+1G>A
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1063+1G>T
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1063+2T>C
|
|
|
NM_012144.4(DNAI1):c.1064-10C>G
|
|
|
NM_012144.4(DNAI1):c.1064-11del
|
|
|
NM_012144.4(DNAI1):c.1064-15A>T
|
|
|
NM_012144.4(DNAI1):c.1064-19G>A
|
|
|
NM_012144.4(DNAI1):c.1064-19G>C
|
|
|
NM_012144.4(DNAI1):c.1064-4G>T
|
|
|
NM_012144.4(DNAI1):c.1064-7T>C
|
rs886038584
|
|
NM_012144.4(DNAI1):c.1073_1076del (p.Met358fs)
|
|
|
NM_012144.4(DNAI1):c.1086G>A (p.Arg362=)
|
|
|
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
|
|
|
NM_012144.4(DNAI1):c.1092dup (p.Leu365fs)
|
|
|
NM_012144.4(DNAI1):c.1095G>A (p.Leu365=)
|
rs749181536
|
|
NM_012144.4(DNAI1):c.1095G>T (p.Leu365=)
|
rs749181536
|
|
NM_012144.4(DNAI1):c.1101C>G (p.Leu367=)
|
rs768631309
|
|
NM_012144.4(DNAI1):c.1110G>A (p.Leu370=)
|
rs2132076725
|
|
NM_012144.4(DNAI1):c.1113G>A (p.Lys371=)
|
|
|
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)
|
|
|
NM_012144.4(DNAI1):c.1119C>T (p.Pro373=)
|
|
|
NM_012144.4(DNAI1):c.1122C>T (p.Ser374=)
|
|
|
NM_012144.4(DNAI1):c.1127del (p.Pro376fs)
|
rs2132076740
|
|
NM_012144.4(DNAI1):c.1128T>C (p.Pro376=)
|
rs1824937169
|
|
NM_012144.4(DNAI1):c.1128T>G (p.Pro376=)
|
rs1824937169
|
|
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
|
|
|
NM_012144.4(DNAI1):c.1131G>A (p.Glu377=)
|
rs936989573
|
|
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
|
|
|
NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)
|
|
|
NM_012144.4(DNAI1):c.1134C>T (p.Tyr378=)
|
rs2132076769
|
|
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg)
|
rs1824938179
|
|
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)
|
rs767667443
|
|
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe)
|
rs767667443
|
|
NM_012144.4(DNAI1):c.1170C>T (p.Asp390=)
|
|
|
NM_012144.4(DNAI1):c.1179G>C (p.Val393=)
|
|
|
NM_012144.4(DNAI1):c.1188C>T (p.Pro396=)
|
rs2132076864
|
|
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs)
|
rs1060503515
|
|
NM_012144.4(DNAI1):c.1191C>T (p.Tyr397=)
|
|
|
NM_012144.4(DNAI1):c.1191_1193del (p.Tyr397_Leu398delinsTer)
|
rs2132076876
|
|
NM_012144.4(DNAI1):c.1197G>A (p.Val399=)
|
|
|
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)
|
rs553371109
|
|
NM_012144.4(DNAI1):c.1202dup (p.Gly402fs)
|
rs2132076893
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)
|
|
|
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)
|
rs138954776
|
|
NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)
|
|
|
NM_012144.4(DNAI1):c.1206C>A (p.Gly402=)
|
rs1824940432
|
|
NM_012144.4(DNAI1):c.1209C>T (p.His403=)
|
|
|
NM_012144.4(DNAI1):c.120T>C (p.Asp40=)
|
|
|
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)
|
rs769177784
|
|
NM_012144.4(DNAI1):c.1229T>C (p.Ile410Thr)
|
|
|
NM_012144.4(DNAI1):c.1239C>G (p.Leu413=)
|
rs2132076954
|
|
NM_012144.4(DNAI1):c.1239del (p.Lys414fs)
|
|
|
NM_012144.4(DNAI1):c.123A>G (p.Glu41=)
|
|
|
NM_012144.4(DNAI1):c.1242G>A (p.Lys414=)
|
rs768199292
|
|
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
|
|
|
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu)
|
rs1256336794
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
NM_012144.4(DNAI1):c.1269C>T (p.Cys423=)
|
rs2132076997
|
|
NM_012144.4(DNAI1):c.1289_1310dup (p.Val438fs)
|
|
|
NM_012144.4(DNAI1):c.1290G>A (p.Lys430=)
|
rs1047610175
|
|
NM_012144.4(DNAI1):c.1302T>C (p.Pro434=)
|
|
|
NM_012144.4(DNAI1):c.1305G>A (p.Val435=)
|
|
|
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)
|
rs769284314
|
|
NM_012144.4(DNAI1):c.1311+13G>A
|
|
|
NM_012144.4(DNAI1):c.1311+16G>A
|
|
|
NM_012144.4(DNAI1):c.1311+16G>T
|
|
|
NM_012144.4(DNAI1):c.1311+1G>C
|
rs2132077044
|
|
NM_012144.4(DNAI1):c.1311+20G>A
|
|
|
NM_012144.4(DNAI1):c.1311+21_1311+35del
|
|
|
NM_012144.4(DNAI1):c.1311+2T>A
|
rs1587085165
|
|
NM_012144.4(DNAI1):c.1311+2T>C
|
rs1587085165
|
|
NM_012144.4(DNAI1):c.1311+7A>G
|
rs2132077061
|
|
NM_012144.4(DNAI1):c.1311+9C>G
|
rs2132077070
|
|
NM_012144.4(DNAI1):c.1312-13del
|
|
|
NM_012144.4(DNAI1):c.1312-19A>C
|
|
|
NM_012144.4(DNAI1):c.1312-7G>A
|
|
|
NM_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)
|
|
|
NM_012144.4(DNAI1):c.132A>G (p.Gln44=)
|
rs2132057349
|
|
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs)
|
rs867262419
|
|
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
|
|
|
NM_012144.4(DNAI1):c.1352TCT[1] (p.Phe452del)
|
|
|
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe)
|
rs570528970
|
|
NM_012144.4(DNAI1):c.1358_1359del (p.Ser453fs)
|
rs2132081341
|
|
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
|
|
|
NM_012144.4(DNAI1):c.1374C>A (p.Gly458=)
|
|
|
NM_012144.4(DNAI1):c.1377G>A (p.Arg459=)
|
|
|
NM_012144.4(DNAI1):c.1383G>A (p.Val461=)
|
rs2132081385
|
|
NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs)
|
rs1370523337
|
|
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
|
|
|
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
|
|
|
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
|
|
|
NM_012144.4(DNAI1):c.1401+12C>T
|
|
|
NM_012144.4(DNAI1):c.1401+18A>G
|
|
|
NM_012144.4(DNAI1):c.1401+3_1401+10del
|
rs765551840
|
|
NM_012144.4(DNAI1):c.1401+6dup
|
rs2132081431
|
|
NM_012144.4(DNAI1):c.1402-14G>C
|
|
|
NM_012144.4(DNAI1):c.1402-19C>T
|
|
|
NM_012144.4(DNAI1):c.1407G>A (p.Lys469=)
|
|
|
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=)
|
rs201345286
|
|
NM_012144.4(DNAI1):c.1431G>A (p.Lys477=)
|
|
|
NM_012144.4(DNAI1):c.1437G>A (p.Lys479=)
|
|
|
NM_012144.4(DNAI1):c.1443A>G (p.Glu481=)
|
|
|
NM_012144.4(DNAI1):c.1449C>T (p.Ser483=)
|
rs1461407696
|
|
NM_012144.4(DNAI1):c.144A>G (p.Thr48=)
|
|
|
NM_012144.4(DNAI1):c.1452C>T (p.Thr484=)
|
|
|
NM_012144.4(DNAI1):c.1455G>C (p.Thr485=)
|
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
|
|
|
NM_012144.4(DNAI1):c.146_149del (p.Val49fs)
|
rs2132057373
|
|
NM_012144.4(DNAI1):c.1476G>A (p.Gln492=)
|
|
|
NM_012144.4(DNAI1):c.1482C>T (p.His494=)
|
|
|
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
|
|
|
NM_012144.4(DNAI1):c.1489+10C>A
|
|
|
NM_012144.4(DNAI1):c.1489+10C>T
|
|
|
NM_012144.4(DNAI1):c.1489+12A>G
|
|
|
NM_012144.4(DNAI1):c.1489+13G>A
|
|
|
NM_012144.4(DNAI1):c.1489+16C>T
|
|
|
NM_012144.4(DNAI1):c.1489+2T>G
|
rs1825084931
|
|
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser)
|
rs1212462636
|
|
NM_012144.4(DNAI1):c.1490-17C>T
|
|
|
NM_012144.4(DNAI1):c.1490-5C>G
|
|
|
NM_012144.4(DNAI1):c.1490-5C>T
|
rs748260311
|
|
NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val)
|
rs376252276
|
|
NM_012144.4(DNAI1):c.1494T>C (p.Cys498=)
|
rs2132082502
|
|
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser)
|
rs1412970451
|
|
NM_012144.4(DNAI1):c.1497C>T (p.Gly499=)
|
|
|
NM_012144.4(DNAI1):c.1498_1502del (p.Thr500fs)
|
|
|
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs)
|
rs1825102855
|
|
NM_012144.4(DNAI1):c.1512C>T (p.Phe504=)
|
rs1168965747
|
|
NM_012144.4(DNAI1):c.1515C>T (p.His505=)
|
rs2132082536
|
|
NM_012144.4(DNAI1):c.1530C>T (p.Tyr510=)
|
|
|
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro)
|
rs1554691352
|
|
NM_012144.4(DNAI1):c.153C>A (p.Pro51=)
|
rs1587067441
|
|
NM_012144.4(DNAI1):c.1558A>G (p.Lys520Glu)
|
|
|
NM_012144.4(DNAI1):c.1563C>T (p.Ile521=)
|
rs2132082600
|
|
NM_012144.4(DNAI1):c.1566C>T (p.Tyr522=)
|
|
|
NM_012144.4(DNAI1):c.1569+11C>T
|
|
|
NM_012144.4(DNAI1):c.1569+12C>G
|
|
|
NM_012144.4(DNAI1):c.1569+12dup
|
rs1278322224
|
|
NM_012144.4(DNAI1):c.1569+14G>T
|
|
|
NM_012144.4(DNAI1):c.1569+15T>C
|
|
|
NM_012144.4(DNAI1):c.1569+16G>A
|
|
|
NM_012144.4(DNAI1):c.1569+17C>T
|
|
|
NM_012144.4(DNAI1):c.1569+18C>T
|
|
|
NM_012144.4(DNAI1):c.1569+1G>A
|
rs1465404366
|
|
NM_012144.4(DNAI1):c.1569+7C>T
|
|
|
NM_012144.4(DNAI1):c.156del (p.Asp53fs)
|
rs1060503495
|
|
NM_012144.4(DNAI1):c.1570-14C>A
|
|
|
NM_012144.4(DNAI1):c.1570-17G>A
|
|
|
NM_012144.4(DNAI1):c.1570-18C>G
|
|
|
NM_012144.4(DNAI1):c.1570-18C>T
|
|
|
NM_012144.4(DNAI1):c.1570-1G>T
|
rs1587091911
|
|
NM_012144.4(DNAI1):c.1570-20C>T
|
|
|
NM_012144.4(DNAI1):c.1570-4C>A
|
|
|
NM_012144.4(DNAI1):c.1570-4C>T
|
|
|
NM_012144.4(DNAI1):c.1570-6G>C
|
rs370622070
|
|
NM_012144.4(DNAI1):c.1570-8C>T
|
rs2132083713
|
|
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
|
|
|
NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)
|
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
NM_012144.4(DNAI1):c.15T>C (p.Ser5=)
|
|
|
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=)
|
rs199502666
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
|
|
|
NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val)
|
rs2132083804
|
|
NM_012144.4(DNAI1):c.1614C>T (p.Ala538=)
|
|
|
NM_012144.4(DNAI1):c.1623G>A (p.Met541Ile)
|
|
|
NM_012144.4(DNAI1):c.1635T>G (p.Thr545=)
|
|
|
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
|
|
|
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
|
|
|
NM_012144.4(DNAI1):c.1638G>T (p.Val546=)
|
rs1825132822
|
|
NM_012144.4(DNAI1):c.1638_1639del (p.Ser547fs)
|
|
|
NM_012144.4(DNAI1):c.163del (p.Leu55fs)
|
rs1196979432
|
|
NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)
|
|
|
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)
|
|
|
NM_012144.4(DNAI1):c.1647C>T (p.Asn549=)
|
|
|
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
|
|
|
NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)
|
|
|
NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del)
|
rs606231165
|
|
NM_012144.4(DNAI1):c.165G>A (p.Leu55=)
|
rs2132057398
|
|
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser)
|
rs1554691490
|
|
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr)
|
rs1335386227
|
|
NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)
|
|
|
NM_012144.4(DNAI1):c.1677C>T (p.Cys559=)
|
rs1379578270
|
|
NM_012144.4(DNAI1):c.1683C>G (p.Ser561=)
|
rs749068442
|
|
NM_012144.4(DNAI1):c.1683C>T (p.Ser561=)
|
rs749068442
|
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
|
|
NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter)
|
rs2132083938
|
|
NM_012144.4(DNAI1):c.1692A>C (p.Thr564=)
|
|
|
NM_012144.4(DNAI1):c.1698G>A (p.Lys566=)
|
|
|
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr)
|
rs1554691495
|
|
NM_012144.4(DNAI1):c.1710C>T (p.His570=)
|
|
|
NM_012144.4(DNAI1):c.1718+12G>A
|
|
|
NM_012144.4(DNAI1):c.1718+15C>T
|
|
|
NM_012144.4(DNAI1):c.1718+19G>T
|
|
|
NM_012144.4(DNAI1):c.1718+1G>A
|
rs2132084012
|
|
NM_012144.4(DNAI1):c.1718+20C>T
|
|
|
NM_012144.4(DNAI1):c.1718+2T>G
|
|
|
NM_012144.4(DNAI1):c.1718+9C>A
|
|
|
NM_012144.4(DNAI1):c.1719-10A>C
|
|
|
NM_012144.4(DNAI1):c.1719-12C>T
|
|
|
NM_012144.4(DNAI1):c.1719-14C>T
|
|
|
NM_012144.4(DNAI1):c.1719-18C>T
|
|
|
NM_012144.4(DNAI1):c.1719-2A>G
|
|
|
NM_012144.4(DNAI1):c.1719-3C>T
|
|
|
NM_012144.4(DNAI1):c.1719-4G>A
|
rs1419477770
|
|
NM_012144.4(DNAI1):c.1719-9C>T
|
|
|
NM_012144.4(DNAI1):c.1720_1725delinsTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACACA (p.Thr574_Pro575delinsTer)
|
|
|
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
|
|
|
NM_012144.4(DNAI1):c.1737T>C (p.Tyr579=)
|
|
|
NM_012144.4(DNAI1):c.1746C>T (p.Asn582=)
|
|
|
NM_012144.4(DNAI1):c.174C>A (p.Thr58=)
|
|
|
NM_012144.4(DNAI1):c.1758T>A (p.Gly586=)
|
rs758117826
|
|
NM_012144.4(DNAI1):c.1758T>C (p.Gly586=)
|
rs758117826
|
|
NM_012144.4(DNAI1):c.1761T>C (p.Asp587=)
|
|
|
NM_012144.4(DNAI1):c.1767C>A (p.Ala589=)
|
|
|
NM_012144.4(DNAI1):c.1776A>T (p.Pro592=)
|
rs1008510837
|
|
NM_012144.4(DNAI1):c.1779C>T (p.Tyr593=)
|
|
|
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
|
|
|
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile)
|
rs2132084252
|
|
NM_012144.4(DNAI1):c.1788T>C (p.Thr596=)
|
|
|
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
|
|
|
NM_012144.4(DNAI1):c.178dup (p.Ala60fs)
|
rs2132057423
|
|
NM_012144.4(DNAI1):c.180+14C>T
|
|
|
NM_012144.4(DNAI1):c.180+19G>A
|
|
|
NM_012144.4(DNAI1):c.180+1G>A
|
rs2132057443
|
|
NM_012144.4(DNAI1):c.180+1G>T
|
rs2132057443
|
|
NM_012144.4(DNAI1):c.180+20T>C
|
|
|
NM_012144.4(DNAI1):c.180+2T>G
|
rs1587067513
|
|
NM_012144.4(DNAI1):c.1800A>G (p.Ala600=)
|
|
|
NM_012144.4(DNAI1):c.1809A>T (p.Thr603=)
|
rs2132084284
|
|
NM_012144.4(DNAI1):c.180G>T (p.Ala60=)
|
rs201120508
|
|
NM_012144.4(DNAI1):c.181-15A>G
|
|
|
NM_012144.4(DNAI1):c.181-2A>T
|
|
|
NM_012144.4(DNAI1):c.181-5C>T
|
rs2132057646
|
|
NM_012144.4(DNAI1):c.181-7C>A
|
|
|
NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
|
|
|
NM_012144.4(DNAI1):c.1818+15C>A
|
rs1825142151
|
|
NM_012144.4(DNAI1):c.1818+15C>G
|
|
|
NM_012144.4(DNAI1):c.1818+17T>C
|
|
|
NM_012144.4(DNAI1):c.1818+1G>T
|
rs904790792
|
|
NM_012144.4(DNAI1):c.1818+20C>T
|
|
|
NM_012144.4(DNAI1):c.1818+2T>A
|
|
|
NM_012144.4(DNAI1):c.1818+9C>G
|
|
|
NM_012144.4(DNAI1):c.1819-10C>T
|
|
|
NM_012144.4(DNAI1):c.1819-11C>T
|
|
|
NM_012144.4(DNAI1):c.1819-14C>G
|
|
|
NM_012144.4(DNAI1):c.1819-14C>T
|
|
|
NM_012144.4(DNAI1):c.1819-19G>A
|
|
|
NM_012144.4(DNAI1):c.1819-2A>G
|
rs2132086408
|
|
NM_012144.4(DNAI1):c.1819-4A>C
|
rs2132086400
|
|
NM_012144.4(DNAI1):c.1819-9T>G
|
rs1587094351
|
|
NM_012144.4(DNAI1):c.1821C>T (p.Ala607=)
|
rs2132086418
|
|
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
|
|
|
NM_012144.4(DNAI1):c.1823A>C (p.His608Pro)
|
|
|
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
|
|
|
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)
|
rs727502978
|
|
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=)
|
|
|
NM_012144.4(DNAI1):c.1866_1873del (p.Gln623fs)
|
rs1825188115
|
|
NM_012144.4(DNAI1):c.1871del (p.Pro624fs)
|
rs1168493593
|
|
NM_012144.4(DNAI1):c.1875G>T (p.Val625=)
|
|
|
NM_012144.4(DNAI1):c.1884A>G (p.Lys628=)
|
rs544254178
|
|
NM_012144.4(DNAI1):c.1887G>A (p.Lys629=)
|
|
|
NM_012144.4(DNAI1):c.1887del (p.Asn630fs)
|
rs2132086495
|
|
NM_012144.4(DNAI1):c.1899C>A (p.Thr633=)
|
rs1424652340
|
|
NM_012144.4(DNAI1):c.1899C>T (p.Thr633=)
|
|
|
NM_012144.4(DNAI1):c.189G>A (p.Lys63=)
|
rs1011660587
|
|
NM_012144.4(DNAI1):c.18G>A (p.Ala6=)
|
|
|
NM_012144.4(DNAI1):c.1900dup (p.His634fs)
|
rs1825189052
|
|
NM_012144.4(DNAI1):c.1917C>T (p.Leu639=)
|
rs1825189744
|
|
NM_012144.4(DNAI1):c.1920C>A (p.Ile640=)
|
rs778382564
|
|
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
|
|
|
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
|
|
|
NM_012144.4(DNAI1):c.1926C>A (p.Pro642=)
|
rs2132086584
|
|
NM_012144.4(DNAI1):c.192G>A (p.Glu64=)
|
rs2132057666
|
|
NM_012144.4(DNAI1):c.1935T>C (p.Ile645=)
|
|
|
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met)
|
rs1393988058
|
|
NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)
|
|
|
NM_012144.4(DNAI1):c.1941_1942insCA (p.Asp648fs)
|
|
|
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)
|
|
|
NM_012144.4(DNAI1):c.195G>A (p.Glu65=)
|
|
|
NM_012144.4(DNAI1):c.1962C>A (p.Ile654=)
|
|
|
NM_012144.4(DNAI1):c.1962C>T (p.Ile654=)
|
|
|
NM_012144.4(DNAI1):c.196T>C (p.Phe66Leu)
|
|
|
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=)
|
rs2132086682
|
|
NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly)
|
rs564706097
|
|
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=)
|
rs919734920
|
|
NM_012144.4(DNAI1):c.1A>G (p.Met1Val)
|
|
|
NM_012144.4(DNAI1):c.2000_2001insTT (p.Lys667fs)
|
|
|
NM_012144.4(DNAI1):c.2001+10C>G
|
rs1237431260
|
|
NM_012144.4(DNAI1):c.2001+10C>T
|
|
|
NM_012144.4(DNAI1):c.2001+14G>A
|
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
NM_012144.4(DNAI1):c.2001+1G>T
|
|
|
NM_012144.4(DNAI1):c.2001+7G>A
|
rs1437773528
|
|
NM_012144.4(DNAI1):c.2001+7G>C
|
|
|
NM_012144.4(DNAI1):c.2001+9T>C
|
|
|
NM_012144.4(DNAI1):c.2002-10C>T
|
|
|
NM_012144.4(DNAI1):c.2002-18T>C
|
|
|
NM_012144.4(DNAI1):c.2002-4C>T
|
|
|
NM_012144.4(DNAI1):c.2002-5C>T
|
rs1587096958
|
|
NM_012144.4(DNAI1):c.2007G>A (p.Lys669=)
|
|
|
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=)
|
|
|
NM_012144.4(DNAI1):c.2022G>A (p.Val674=)
|
rs933564569
|
|
NM_012144.4(DNAI1):c.202C>A (p.Arg68=)
|
rs759540568
|
|
NM_012144.4(DNAI1):c.2033C>T (p.Pro678Leu)
|
|
|
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro)
|
rs111887810
|
|
NM_012144.4(DNAI1):c.2046T>A (p.Ile682=)
|
rs2132089778
|
|
NM_012144.4(DNAI1):c.2049G>C (p.Ala683=)
|
|
|
NM_012144.4(DNAI1):c.204G>A (p.Arg68=)
|
rs1301833925
|
|
NM_012144.4(DNAI1):c.2058C>T (p.Asp686=)
|
rs770774973
|
|
NM_012144.4(DNAI1):c.2067G>A (p.Leu689=)
|
|
|
NM_012144.4(DNAI1):c.2074G>C (p.Val692Leu)
|
|
|
NM_012144.4(DNAI1):c.2076G>C (p.Val692=)
|
|
|
NM_012144.4(DNAI1):c.207T>A (p.Ile69=)
|
rs2132057695
|
|
NM_012144.4(DNAI1):c.228C>A (p.His76Gln)
|
rs760014707
|
|
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val)
|
|
|
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu)
|
rs1564031598
|
|
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
|
|
|
NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu)
|
|
|
NM_012144.4(DNAI1):c.261+10C>T
|
rs1824453816
|
|
NM_012144.4(DNAI1):c.261+13C>T
|
|
|
NM_012144.4(DNAI1):c.261+15C>T
|
|
|
NM_012144.4(DNAI1):c.261+16C>T
|
|
|
NM_012144.4(DNAI1):c.261+19G>C
|
|
|
NM_012144.4(DNAI1):c.261+7C>T
|
|
|
NM_012144.4(DNAI1):c.261+8A>G
|
rs757264175
|
|
NM_012144.4(DNAI1):c.262-12del
|
rs572785591
|
|
NM_012144.4(DNAI1):c.262-13C>T
|
|
|
NM_012144.4(DNAI1):c.262-2A>G
|
rs1824533495
|
|
NM_012144.4(DNAI1):c.262-4T>C
|
|
|
NM_012144.4(DNAI1):c.262-7T>G
|
rs2132060966
|
|
NM_012144.4(DNAI1):c.262-8C>A
|
rs1824533419
|
|
NM_012144.4(DNAI1):c.262-8C>T
|
|
|
NM_012144.4(DNAI1):c.264del (p.Gly89fs)
|
rs2132060982
|
|
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
|
|
|
NM_012144.4(DNAI1):c.273T>C (p.Tyr91=)
|
|
|
NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs)
|
rs606231164
|
|
NM_012144.4(DNAI1):c.288T>C (p.Phe96=)
|
rs201935680
|
|
NM_012144.4(DNAI1):c.291G>T (p.Val97=)
|
rs1824534447
|
|
NM_012144.4(DNAI1):c.300G>C (p.Leu100=)
|
|
|
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val)
|
rs1824534743
|
|
NM_012144.4(DNAI1):c.309C>T (p.His103=)
|
rs1055150779
|
|
NM_012144.4(DNAI1):c.315C>G (p.Thr105=)
|
|
|
NM_012144.4(DNAI1):c.315C>T (p.Thr105=)
|
|
|
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp)
|
rs1824535486
|
|
NM_012144.4(DNAI1):c.327C>T (p.Asn109=)
|
rs1691131982
|
|
NM_012144.4(DNAI1):c.332T>G (p.Ile111Ser)
|
|
|
NM_012144.4(DNAI1):c.333C>T (p.Ile111=)
|
rs1318069994
|
|
NM_012144.4(DNAI1):c.336C>T (p.Pro112=)
|
rs2132061103
|
|
NM_012144.4(DNAI1):c.336del (p.Asp114fs)
|
rs876657683
|
|
NM_012144.4(DNAI1):c.338A>G (p.Lys113Arg)
|
rs367903999
|
|
NM_012144.4(DNAI1):c.342del (p.Ser115fs)
|
|
|
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
|
|
|
NM_012144.4(DNAI1):c.366T>A (p.His122Gln)
|
rs1060503514
|
|
NM_012144.4(DNAI1):c.366T>C (p.His122=)
|
rs1060503514
|
|
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
|
|
|
NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)
|
|
|
NM_012144.4(DNAI1):c.384G>A (p.Val128=)
|
rs2132061208
|
|
NM_012144.4(DNAI1):c.388+10T>C
|
|
|
NM_012144.4(DNAI1):c.389-11A>G
|
|
|
NM_012144.4(DNAI1):c.389-13G>A
|
|
|
NM_012144.4(DNAI1):c.389-19T>C
|
|
|
NM_012144.4(DNAI1):c.389-4C>G
|
rs767845991
|
|
NM_012144.4(DNAI1):c.389-5C>A
|
rs1587070803
|
|
NM_012144.4(DNAI1):c.389-8C>A
|
|
|
NM_012144.4(DNAI1):c.389-9C>T
|
|
|
NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)
|
|
|
NM_012144.4(DNAI1):c.399G>A (p.Glu133=)
|
rs756828891
|
|
NM_012144.4(DNAI1):c.402T>A (p.Ser134=)
|
|
|
NM_012144.4(DNAI1):c.402_403insAT (p.Val135fs)
|
|
|
NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
|
|
|
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
|
|
|
NM_012144.4(DNAI1):c.423A>G (p.Thr141=)
|
rs2132061760
|
|
NM_012144.4(DNAI1):c.426A>G (p.Gly142=)
|
|
|
NM_012144.4(DNAI1):c.438A>C (p.Glu146Asp)
|
|
|
NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)
|
|
|
NM_012144.4(DNAI1):c.441C>T (p.Asp147=)
|
rs374753293
|
|
NM_012144.4(DNAI1):c.447G>A (p.Glu149=)
|
rs1371790403
|
|
NM_012144.4(DNAI1):c.453G>A (p.Lys151=)
|
|
|
NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter)
|
rs2132061817
|
|
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
|
|
|
NM_012144.4(DNAI1):c.474G>A (p.Gly158=)
|
|
|
NM_012144.4(DNAI1):c.48+10G>A
|
rs2132034542
|
|
NM_012144.4(DNAI1):c.48+10G>T
|
|
|
NM_012144.4(DNAI1):c.48+13C>T
|
|
|
NM_012144.4(DNAI1):c.48+14A>G
|
|
|
NM_012144.4(DNAI1):c.48+16C>T
|
rs775621604
|
|
NM_012144.4(DNAI1):c.48+19C>T
|
|
|
NM_012144.4(DNAI1):c.48+1G>C
|
rs2132034522
|
|
NM_012144.4(DNAI1):c.48+1G>T
|
|
|
NM_012144.4(DNAI1):c.48+6G>A
|
|
|
NM_012144.4(DNAI1):c.48+9C>T
|
|
|
NM_012144.4(DNAI1):c.484_485del (p.Asp162fs)
|
|
|
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val)
|
rs1554687745
|
|
NM_012144.4(DNAI1):c.488_489dup (p.Pro164fs)
|
|
|
NM_012144.4(DNAI1):c.489G>A (p.Val163=)
|
|
|
NM_012144.4(DNAI1):c.48G>T (p.Gln16His)
|
|
|
NM_012144.4(DNAI1):c.49-10C>T
|
|
|
NM_012144.4(DNAI1):c.49-16del
|
|
|
NM_012144.4(DNAI1):c.49-1G>C
|
rs748042738
|
|
NM_012144.4(DNAI1):c.49-4T>G
|
rs2132055870
|
|
NM_012144.4(DNAI1):c.49-7C>T
|
|
|
NM_012144.4(DNAI1):c.498T>G (p.Ala166=)
|
|
|
NM_012144.4(DNAI1):c.501+10A>G
|
rs765805502
|
|
NM_012144.4(DNAI1):c.501+15C>A
|
rs369759767
|
|
NM_012144.4(DNAI1):c.501+15C>T
|
|
|
NM_012144.4(DNAI1):c.501+16G>T
|
|
|
NM_012144.4(DNAI1):c.501+17C>T
|
|
|
NM_012144.4(DNAI1):c.501+19_501+20del
|
|
|
NM_012144.4(DNAI1):c.501+1G>A
|
rs1824556879
|
|
NM_012144.4(DNAI1):c.501+1G>T
|
|
|
NM_012144.4(DNAI1):c.501+8A>G
|
|
|
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
|
|
|
NM_012144.4(DNAI1):c.502-10T>C
|
|
|
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
|
|
|
NM_012144.4(DNAI1):c.516G>A (p.Val172=)
|
rs2132062151
|
|
NM_012144.4(DNAI1):c.51C>T (p.Ser17=)
|
rs2132055879
|
|
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)
|
rs878854967
|
|
NM_012144.4(DNAI1):c.528A>G (p.Glu176=)
|
rs2132062181
|
|
NM_012144.4(DNAI1):c.529T>C (p.Leu177=)
|
rs1225651030
|
|
NM_012144.4(DNAI1):c.537T>C (p.Thr179=)
|
rs2132062198
|
|
NM_012144.4(DNAI1):c.543G>A (p.Lys181=)
|
rs2132062207
|
|
NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter)
|
rs1824564325
|
|
NM_012144.4(DNAI1):c.549C>G (p.Pro183=)
|
rs771926865
|
|
NM_012144.4(DNAI1):c.549C>T (p.Pro183=)
|
rs771926865
|
|
NM_012144.4(DNAI1):c.552G>A (p.Lys184=)
|
rs2132062224
|
|
NM_012144.4(DNAI1):c.556dup (p.Arg186fs)
|
rs1824564676
|
|
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys)
|
rs1178602656
|
|
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)
|
rs1405276816
|
|
NM_012144.4(DNAI1):c.570C>T (p.Asn190=)
|
|
|
NM_012144.4(DNAI1):c.579C>T (p.Asn193=)
|
|
|
NM_012144.4(DNAI1):c.594C>G (p.Ala198=)
|
|
|
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
|
|
|
NM_012144.4(DNAI1):c.603C>G (p.Thr201=)
|
rs8181087
|
|
NM_012144.4(DNAI1):c.606C>T (p.Tyr202=)
|
rs1824565965
|
|
NM_012144.4(DNAI1):c.60A>C (p.Ile20=)
|
|
|
NM_012144.4(DNAI1):c.615T>C (p.Pro205=)
|
rs1824566223
|
|
NM_012144.4(DNAI1):c.621+12C>T
|
|
|
NM_012144.4(DNAI1):c.621+13C>T
|
|
|
NM_012144.4(DNAI1):c.621+14C>A
|
|
|
NM_012144.4(DNAI1):c.621+14C>T
|
|
|
NM_012144.4(DNAI1):c.621+14dup
|
rs757124110
|
|
NM_012144.4(DNAI1):c.621+15A>C
|
|
|
NM_012144.4(DNAI1):c.621+17C>G
|
|
|
NM_012144.4(DNAI1):c.621+9G>A
|
|
|
NM_012144.4(DNAI1):c.622-10T>C
|
|
|
NM_012144.4(DNAI1):c.622-14G>A
|
|
|
NM_012144.4(DNAI1):c.622-20C>G
|
|
|
NM_012144.4(DNAI1):c.622-2A>G
|
|
|
NM_012144.4(DNAI1):c.622-9G>C
|
rs1317000391
|
|
NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter)
|
rs769224534
|
|
NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)
|
|
|
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser)
|
rs1824592383
|
|
NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala)
|
rs886063882
|
|
NM_012144.4(DNAI1):c.651C>A (p.Pro217=)
|
|
|
NM_012144.4(DNAI1):c.654G>A (p.Arg218=)
|
|
|
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
|
|
|
NM_012144.4(DNAI1):c.663_664del (p.Ala223fs)
|
rs2132063305
|
|
NM_012144.4(DNAI1):c.675C>T (p.Ala225=)
|
|
|
NM_012144.4(DNAI1):c.681+1G>A
|
rs532919927
|
|
NM_012144.4(DNAI1):c.681+20T>C
|
|
|
NM_012144.4(DNAI1):c.681+8C>G
|
|
|
NM_012144.4(DNAI1):c.682-10C>T
|
rs748769889
|
|
NM_012144.4(DNAI1):c.682-11C>A
|
|
|
NM_012144.4(DNAI1):c.682-11C>T
|
|
|
NM_012144.4(DNAI1):c.682-18T>C
|
|
|
NM_012144.4(DNAI1):c.682-1G>A
|
rs2132065273
|
|
NM_012144.4(DNAI1):c.682-6G>C
|
|
|
NM_012144.4(DNAI1):c.682-9C>T
|
|
|
NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)
|
|
|
NM_012144.4(DNAI1):c.688_689del (p.Ile230fs)
|
rs2132065290
|
|
NM_012144.4(DNAI1):c.693T>C (p.Tyr231=)
|
|
|
NM_012144.4(DNAI1):c.696T>C (p.Asp232=)
|
rs2132065303
|
|
NM_012144.4(DNAI1):c.702T>C (p.Tyr234=)
|
|
|
NM_012144.4(DNAI1):c.705A>C (p.Val235=)
|
rs2132065332
|
|
NM_012144.4(DNAI1):c.705A>G (p.Val235=)
|
|
|
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val)
|
rs1824644753
|
|
NM_012144.4(DNAI1):c.711A>G (p.Glu237=)
|
|
|
NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)
|
|
|
NM_012144.4(DNAI1):c.723G>A (p.Gln241=)
|
|
|
NM_012144.4(DNAI1):c.726A>G (p.Glu242=)
|
rs2132065376
|
|
NM_012144.4(DNAI1):c.728A>C (p.Lys243Thr)
|
|
|
NM_012144.4(DNAI1):c.732C>G (p.Thr244=)
|
|
|
NM_012144.4(DNAI1):c.732C>T (p.Thr244=)
|
rs947504661
|
|
NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn)
|
rs562408105
|
|
NM_012144.4(DNAI1):c.747G>A (p.Lys249=)
|
rs764172924
|
|
NM_012144.4(DNAI1):c.753G>A (p.Lys251=)
|
|
|
NM_012144.4(DNAI1):c.75G>A (p.Arg25=)
|
rs2132055905
|
|
NM_012144.4(DNAI1):c.762G>A (p.Val254=)
|
rs1427393338
|
|
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr)
|
|
|
NM_012144.4(DNAI1):c.771A>G (p.Lys257=)
|
rs761802925
|
|
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn)
|
rs2132065479
|
|
NM_012144.4(DNAI1):c.786C>T (p.Ala262=)
|
rs2132065491
|
|
NM_012144.4(DNAI1):c.787A>G (p.Met263Val)
|
rs750194621
|
|
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr)
|
rs1228318421
|
|
NM_012144.4(DNAI1):c.78G>A (p.Lys26=)
|
rs2132055908
|
|
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)
|
|
|
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe)
|
rs1824648112
|
|
NM_012144.4(DNAI1):c.804T>G (p.Ser268=)
|
rs2132065526
|
|
NM_012144.4(DNAI1):c.805A>G (p.Met269Val)
|
|
|
NM_012144.4(DNAI1):c.81+11A>G
|
|
|
NM_012144.4(DNAI1):c.81+12G>C
|
|
|
NM_012144.4(DNAI1):c.81+14C>G
|
|
|
NM_012144.4(DNAI1):c.81+18C>T
|
|
|
NM_012144.4(DNAI1):c.816+12G>A
|
|
|
NM_012144.4(DNAI1):c.816+15C>G
|
|
|
NM_012144.4(DNAI1):c.816+16C>G
|
|
|
NM_012144.4(DNAI1):c.816+16C>T
|
|
|
NM_012144.4(DNAI1):c.816+18A>G
|
|
|
NM_012144.4(DNAI1):c.816+19C>T
|
|
|
NM_012144.4(DNAI1):c.816+20A>G
|
|
|
NM_012144.4(DNAI1):c.817-18G>A
|
|
|
NM_012144.4(DNAI1):c.817-2A>G
|
rs2132068900
|
|
NM_012144.4(DNAI1):c.817-7C>T
|
rs1587076750
|
|
NM_012144.4(DNAI1):c.82-11T>A
|
|
|
NM_012144.4(DNAI1):c.82-11T>C
|
|
|
NM_012144.4(DNAI1):c.82-12G>A
|
rs1824445018
|
|
NM_012144.4(DNAI1):c.82-12del
|
|
|
NM_012144.4(DNAI1):c.82-6G>A
|
|
|
NM_012144.4(DNAI1):c.82-8T>C
|
rs1824445067
|
|
NM_012144.4(DNAI1):c.825T>C (p.Asp275=)
|
|
|
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)
|
|
|
NM_012144.4(DNAI1):c.831C>T (p.Ile277=)
|
rs139611887
|
|
NM_012144.4(DNAI1):c.837G>A (p.Leu279=)
|
|
|
NM_012144.4(DNAI1):c.840C>T (p.Ser280=)
|
rs2132068936
|
|
NM_012144.4(DNAI1):c.843A>G (p.Gln281=)
|
|
|
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp)
|
|
|
NM_012144.4(DNAI1):c.861G>A (p.Glu287=)
|
|
|
NM_012144.4(DNAI1):c.864G>A (p.Arg288=)
|
rs1824742311
|
|
NM_012144.4(DNAI1):c.864G>C (p.Arg288=)
|
|
|
NM_012144.4(DNAI1):c.864G>T (p.Arg288=)
|
|
|
NM_012144.4(DNAI1):c.864del (p.Met289fs)
|
|
|
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)
|
|
|
NM_012144.4(DNAI1):c.891C>T (p.Asp297=)
|
rs2132069010
|
|
NM_012144.4(DNAI1):c.897T>C (p.Ala299=)
|
|
|
NM_012144.4(DNAI1):c.901+12A>T
|
|
|
NM_012144.4(DNAI1):c.901+1G>A
|
|
|
NM_012144.4(DNAI1):c.901+1G>T
|
|
|
NM_012144.4(DNAI1):c.901+20C>A
|
|
|
NM_012144.4(DNAI1):c.901+7G>A
|
|
|
NM_012144.4(DNAI1):c.902-11G>A
|
|
|
NM_012144.4(DNAI1):c.902-13G>A
|
|
|
NM_012144.4(DNAI1):c.902-13G>C
|
|
|
NM_012144.4(DNAI1):c.902-15C>T
|
|
|
NM_012144.4(DNAI1):c.902-16C>G
|
rs2132071917
|
|
NM_012144.4(DNAI1):c.902-17G>T
|
|
|
NM_012144.4(DNAI1):c.902-2A>G
|
rs2132071947
|
|
NM_012144.4(DNAI1):c.902-6T>C
|
|
|
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu)
|
|
|
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu)
|
rs772207177
|
|
NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)
|
|
|
NM_012144.4(DNAI1):c.937C>T (p.Arg313Trp)
|
|
|
NM_012144.4(DNAI1):c.93A>G (p.Ser31=)
|
|
|
NM_012144.4(DNAI1):c.944A>G (p.Gln315Arg)
|
|
|
NM_012144.4(DNAI1):c.944_947dup (p.Thr318fs)
|
|
|
NM_012144.4(DNAI1):c.945G>A (p.Gln315=)
|
|
|
NM_012144.4(DNAI1):c.947dup (p.Thr318fs)
|
|
|
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln)
|
|
|
NM_012144.4(DNAI1):c.958C>T (p.Leu320=)
|
|
|
NM_012144.4(DNAI1):c.960G>T (p.Leu320=)
|
rs2132072031
|
|
NM_012144.4(DNAI1):c.963G>C (p.Pro321=)
|
rs762694599
|
|
NM_012144.4(DNAI1):c.963G>T (p.Pro321=)
|
rs762694599
|
|
NM_012144.4(DNAI1):c.96G>A (p.Gly32=)
|
|
|
NM_012144.4(DNAI1):c.980A>T (p.Asn327Ile)
|
|
|
NM_012144.4(DNAI1):c.984C>T (p.Asp328=)
|
rs2132072063
|
|
NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile)
|
rs2132057312
|
|
NM_012144.4(DNAI1):c.990C>G (p.Ala330=)
|
|
|
NM_012144.4(DNAI1):c.994C>T (p.Arg332Cys)
|
|
|
NM_012144.4(DNAI1):c.995G>A (p.Arg332His)
|
|
|