NM_024577.4(SH3TC2):c.*9969_*9972del
|
rs113518050
|
0.00048
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024577.4(SH3TC2):c.*12088_*12091del
|
rs886060127
|
0.00011
|
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756
|
0.00010
|
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys)
|
rs147895061
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_024577.4(SH3TC2):c.*21395T>C
|
rs886060094
|
0.00009
|
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln)
|
rs947749200
|
0.00009
|
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)
|
rs372839905
|
0.00007
|
NM_024577.4(SH3TC2):c.*7269A>G
|
rs763490898
|
0.00006
|
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser)
|
rs757294130
|
0.00006
|
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)
|
rs752002618
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)
|
rs140666774
|
0.00006
|
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)
|
rs367656036
|
0.00006
|
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)
|
rs375603885
|
0.00006
|
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg)
|
rs370844006
|
0.00006
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr)
|
rs1293958398
|
0.00004
|
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His)
|
rs199991156
|
0.00004
|
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
|
rs142488510
|
0.00004
|
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln)
|
rs558800325
|
0.00004
|
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu)
|
rs571409696
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024577.4(SH3TC2):c.3675+5G>C
|
rs1302647300
|
0.00004
|
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)
|
rs753142542
|
0.00004
|
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu)
|
rs559570623
|
0.00004
|
NM_024577.4(SH3TC2):c.*1942del
|
rs886060183
|
0.00003
|
NM_024577.4(SH3TC2):c.*3411C>T
|
rs886060178
|
0.00003
|
NM_024577.4(SH3TC2):c.*932T>A
|
rs886060186
|
0.00003
|
NM_024577.4(SH3TC2):c.*9980_*9981insTATT
|
rs1554119372
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys)
|
rs551953142
|
0.00003
|
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser)
|
rs767415595
|
0.00003
|
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg)
|
rs912282924
|
0.00003
|
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp)
|
rs769679412
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His)
|
rs778572329
|
0.00003
|
NM_024577.4(SH3TC2):c.*5747C>T
|
rs886060166
|
0.00002
|
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr)
|
rs1189763508
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp)
|
rs753775570
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-3C>T
|
rs1380474010
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr)
|
rs764054256
|
0.00002
|
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val)
|
rs543440112
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met)
|
rs577783066
|
0.00002
|
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu)
|
rs747615941
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.2873-3C>T
|
rs749316605
|
0.00002
|
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)
|
rs192187328
|
0.00002
|
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)
|
rs369953562
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp)
|
rs1371951870
|
0.00002
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00002
|
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser)
|
rs778351829
|
0.00002
|
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val)
|
rs372797350
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg)
|
rs1163101801
|
0.00002
|
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val)
|
rs141712019
|
0.00002
|
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe)
|
rs755754277
|
0.00002
|
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val)
|
rs746615255
|
0.00002
|
NM_024577.4(SH3TC2):c.*12469T>A
|
rs886060122
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly)
|
rs781032352
|
0.00001
|
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln)
|
rs1450931349
|
0.00001
|
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr)
|
rs763564639
|
0.00001
|
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe)
|
rs562967549
|
0.00001
|
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
|
rs761907624
|
0.00001
|
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg)
|
rs766814812
|
0.00001
|
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe)
|
rs754865697
|
0.00001
|
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)
|
rs755748579
|
0.00001
|
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
|
rs1234203055
|
0.00001
|
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro)
|
rs1235312791
|
0.00001
|
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp)
|
rs1326032447
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys)
|
rs751644174
|
0.00001
|
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
|
rs763417948
|
0.00001
|
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala)
|
rs372841815
|
0.00001
|
NM_024577.4(SH3TC2):c.152-8T>A
|
rs1350673664
|
0.00001
|
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp)
|
rs777043032
|
0.00001
|
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr)
|
rs1324539774
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val)
|
rs760899669
|
0.00001
|
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn)
|
rs1436597179
|
0.00001
|
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg)
|
rs1252838387
|
0.00001
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala)
|
rs779061678
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr)
|
rs781671812
|
0.00001
|
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys)
|
rs763952745
|
0.00001
|
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr)
|
rs1329516289
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs1303051798
|
0.00001
|
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs779075488
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu)
|
rs897500539
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg)
|
rs926165676
|
0.00001
|
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln)
|
rs756666549
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)
|
rs754938951
|
0.00001
|
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr)
|
rs377434575
|
0.00001
|
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg)
|
rs1554121601
|
0.00001
|
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg)
|
rs768389060
|
0.00001
|
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
|
rs202139757
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val)
|
rs1232735360
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
|
rs1220087441
|
0.00001
|
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg)
|
rs978452363
|
0.00001
|
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val)
|
rs794727104
|
0.00001
|
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala)
|
rs777209545
|
0.00001
|
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)
|
rs570067509
|
0.00001
|
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe)
|
rs772753479
|
0.00001
|
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+6C>T
|
rs763394102
|
0.00001
|
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
|
rs1753764548
|
0.00001
|
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
|
rs750149369
|
0.00001
|
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu)
|
rs1248817393
|
0.00001
|
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp)
|
rs1228973233
|
0.00001
|
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)
|
rs780363659
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala)
|
rs757935041
|
0.00001
|
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)
|
rs1169028062
|
0.00001
|
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val)
|
rs913598475
|
0.00001
|
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)
|
rs777028943
|
0.00001
|
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr)
|
rs1371380897
|
0.00001
|
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val)
|
rs778953792
|
0.00001
|
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)
|
rs765921861
|
0.00001
|
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
|
rs1229941957
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr)
|
rs1483097983
|
0.00001
|
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
|
rs542260900
|
0.00001
|
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg)
|
rs1754392249
|
0.00001
|
NM_024577.4(SH3TC2):c.53-3C>T
|
rs771541595
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg)
|
rs778863028
|
0.00001
|
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg)
|
rs569256459
|
0.00001
|
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316
|
0.00001
|
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr)
|
rs1472681520
|
0.00001
|
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly)
|
rs774120657
|
0.00001
|
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys)
|
rs867509336
|
0.00001
|
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=)
|
rs781321213
|
0.00001
|
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868
|
0.00001
|
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg)
|
rs1210345750
|
0.00001
|
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val)
|
rs772820273
|
0.00001
|
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu)
|
rs755164059
|
0.00001
|
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His)
|
rs746737375
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys)
|
rs748663288
|
0.00001
|
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn)
|
rs765890403
|
0.00001
|
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val)
|
rs745345448
|
0.00001
|
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu)
|
rs753884201
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NC_000005.9:g.(?_148384274)_(148442585_?)dup
|
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10111_*10114del
|
rs777886659
|
|
NM_024577.4(SH3TC2):c.*12109_*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12111_*12112insAA
|
rs886060126
|
|
NM_024577.4(SH3TC2):c.*12114dup
|
rs886060125
|
|
NM_024577.4(SH3TC2):c.*147A>T
|
rs147796833
|
|
NM_024577.4(SH3TC2):c.*15311del
|
rs886060114
|
|
NM_024577.4(SH3TC2):c.*16856CA[21]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[24]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[26]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*18483dup
|
rs536826583
|
|
NM_024577.4(SH3TC2):c.*1946_*1947del
|
rs397883732
|
|
NM_024577.4(SH3TC2):c.*20919_*20920del
|
rs886060096
|
|
NM_024577.4(SH3TC2):c.*2141C>T
|
rs535223944
|
|
NM_024577.4(SH3TC2):c.*22552_*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553del
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*4183T>C
|
rs886060176
|
|
NM_024577.4(SH3TC2):c.*5279del
|
rs573168274
|
|
NM_024577.4(SH3TC2):c.*5634C>A
|
rs565468168
|
|
NM_024577.4(SH3TC2):c.*6563_*6564del
|
rs368030230
|
|
NM_024577.4(SH3TC2):c.*6870ACA[1]
|
rs567997802
|
|
NM_024577.4(SH3TC2):c.*7016ATATT[1]
|
rs886060164
|
|
NM_024577.4(SH3TC2):c.*7189C>G
|
rs886060163
|
|
NM_024577.4(SH3TC2):c.*839del
|
rs886060189
|
|
NM_024577.4(SH3TC2):c.*8424CT[7]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*8424CT[9]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*862del
|
rs886060188
|
|
NM_024577.4(SH3TC2):c.*862dup
|
rs886060187
|
|
NM_024577.4(SH3TC2):c.*9121del
|
rs886060149
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[11]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[14]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1001+5G>T
|
rs1754315788
|
|
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp)
|
rs1444603403
|
|
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly)
|
rs753849885
|
|
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser)
|
rs1271507097
|
|
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg)
|
rs1299916015
|
|
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
|
|
|
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro)
|
rs1580917049
|
|
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr)
|
rs2127398548
|
|
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu)
|
rs551803988
|
|
NM_024577.4(SH3TC2):c.1135+3G>A
|
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
|
|
|
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro)
|
rs141544031
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NM_024577.4(SH3TC2):c.1178-11T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-8C>A
|
rs202042438
|
|
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
|
|
|
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
|
|
|
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala)
|
rs2127397715
|
|
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu)
|
rs549821020
|
|
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
|
|
|
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser)
|
rs1212536660
|
|
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
|
rs774001683
|
|
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
|
|
|
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu)
|
rs777133915
|
|
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys)
|
rs1309091718
|
|
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup)
|
rs886060198
|
|
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro)
|
rs1441405268
|
|
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
|
|
|
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu)
|
rs377342074
|
|
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala)
|
rs1469647354
|
|
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
|
rs1368926236
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu)
|
rs749587305
|
|
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu)
|
rs1580901388
|
|
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
|
|
|
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly)
|
rs1489505012
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
|
|
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val)
|
rs1554121765
|
|
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn)
|
rs1234062925
|
|
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
|
|
|
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu)
|
rs150950962
|
|
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
|
rs779447016
|
|
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg)
|
rs1673272488
|
|
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe)
|
rs543440112
|
|
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
|
|
|
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly)
|
rs1416723910
|
|
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro)
|
rs372841815
|
|
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del)
|
rs755728218
|
|
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe)
|
rs768299505
|
|
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro)
|
rs1754109858
|
|
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val)
|
rs1437440770
|
|
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser)
|
rs1554121737
|
|
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe)
|
rs1554121725
|
|
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
|
|
|
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe)
|
rs759220976
|
|
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
|
|
|
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu)
|
rs2127397529
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
|
|
|
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
|
|
|
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
|
|
|
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
|
|
|
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met)
|
rs1561765207
|
|
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
|
rs1754104023
|
|
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
|
|
|
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
|
|
|
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr)
|
rs201789838
|
|
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=)
|
rs1219611610
|
|
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu)
|
rs1311201400
|
|
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
|
|
|
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp)
|
rs1380546665
|
|
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)
|
rs1580900765
|
|
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)
|
rs1064797314
|
|
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
|
|
|
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser)
|
rs1754098320
|
|
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys)
|
rs1754097515
|
|
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser)
|
rs772378888
|
|
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala)
|
rs1754096756
|
|
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
|
|
|
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
|
|
|
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg)
|
rs1171441665
|
|
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile)
|
rs773433720
|
|
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
|
|
|
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val)
|
rs2127397326
|
|
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile)
|
rs1317532477
|
|
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr)
|
rs2127397284
|
|
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
|
|
|
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
|
|
|
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe)
|
rs2127397272
|
|
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val)
|
rs962648069
|
|
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr)
|
rs1754493155
|
|
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr)
|
rs751351645
|
|
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)
|
rs1580900331
|
|
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
|
|
|
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His)
|
rs2127397225
|
|
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
|
|
|
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)
|
rs1754089250
|
|
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
|
|
|
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
|
|
|
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
|
|
|
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
|
|
|
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
|
|
|
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
|
|
|
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
|
|
|
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
|
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys)
|
rs1754083548
|
|
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
|
|
|
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala)
|
rs749133472
|
|
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
|
|
|
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
|
|
|
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
|
|
|
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
|
|
|
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val)
|
rs139958177
|
|
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro)
|
rs142971473
|
|
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
|
|
|
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
|
rs1754079774
|
|
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
|
|
|
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
|
|
|
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu)
|
rs189591944
|
|
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg)
|
rs2127397025
|
|
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile)
|
rs1754076431
|
|
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser)
|
rs2127402247
|
|
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val)
|
rs1754076016
|
|
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu)
|
rs2127397007
|
|
NM_024577.4(SH3TC2):c.280-3T>C
|
|
|
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe)
|
rs1380115510
|
|
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu)
|
rs1453743523
|
|
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
|
|
|
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser)
|
rs765951062
|
|
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)
|
rs541695222
|
|
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
|
|
|
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro)
|
rs1754073175
|
|
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
|
|
|
NM_024577.4(SH3TC2):c.2872+4_2872+7del
|
rs1754073023
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
|
|
|
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
|
|
|
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
|
|
|
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro)
|
rs1060501469
|
|
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser)
|
rs369258246
|
|
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup)
|
rs2127396888
|
|
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg)
|
rs1580899530
|
|
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met)
|
rs1561770787
|
|
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
|
|
|
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro)
|
rs2127396874
|
|
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
|
|
|
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
|
|
|
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala)
|
rs2127396858
|
|
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe)
|
rs1243271992
|
|
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val)
|
rs2127401449
|
|
NM_024577.4(SH3TC2):c.3053+11G>T
|
|
|
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
|
|
|
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met)
|
rs1554120576
|
|
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp)
|
rs755666455
|
|
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln)
|
rs1580891410
|
|
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
|
|
|
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
|
|
|
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val)
|
rs2127393379
|
|
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His)
|
rs1754426829
|
|
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys)
|
rs760656119
|
|
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
|
|
|
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
|
|
|
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met)
|
rs2127392867
|
|
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_024577.4(SH3TC2):c.3327+6T>G
|
|
|
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu)
|
rs115577291
|
|
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met)
|
rs1554120326
|
|
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile)
|
rs752094727
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
|
|
|
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
|
|
|
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser)
|
rs1753736056
|
|
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
|
rs778351829
|
|
NM_024577.4(SH3TC2):c.3478+4G>A
|
|
|
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
|
|
|
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly)
|
rs2127392009
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
|
|
|
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser)
|
rs1343590454
|
|
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser)
|
rs1561756981
|
|
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
|
|
|
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu)
|
rs776962303
|
|
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys)
|
rs926087682
|
|
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp)
|
rs1753699992
|
|
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)
|
rs756174696
|
|
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs)
|
rs369695480
|
|
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_024577.4(SH3TC2):c.3676-1G>A
|
rs1306229414
|
|
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
|
|
|
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln)
|
rs1753659994
|
|
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
|
|
|
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
|
|
|
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
|
|
|
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser)
|
rs1753657850
|
|
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
|
|
|
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg)
|
rs1210794926
|
|
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)
|
rs945895550
|
|
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg)
|
rs1753657395
|
|
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp)
|
rs1753656892
|
|
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
|
|
|
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser)
|
rs370090569
|
|
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del)
|
rs1554120043
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp)
|
rs771840516
|
|
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
|
|
|
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
|
|
|
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg)
|
rs1168407927
|
|
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro)
|
rs2127400975
|
|
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp)
|
rs1423301895
|
|
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
|
|
|
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
|
|
|
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala)
|
rs779715536
|
|
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser)
|
rs753975938
|
|
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val)
|
rs2127400948
|
|
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg)
|
rs1408319932
|
|
NM_024577.4(SH3TC2):c.53-5_53-3del
|
|
|
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
|
|
|
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
|
|
|
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del)
|
rs763476083
|
|
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
|
|
|
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala)
|
rs1554122762
|
|
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
|
|
|
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro)
|
rs2127400685
|
|
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
|
|
|
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
|
|
|
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
|
|
|
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
|
|
|
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys)
|
rs1754371704
|
|
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
|
|
|
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
|
|
|
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
|
|
|
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
|
|
|
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp)
|
rs748374150
|
|
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
|
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser)
|
rs751022040
|
|
NM_024577.4(SH3TC2):c.731+4A>G
|
|
|
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu)
|
rs751095271
|
|
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
|
rs760971566
|
|
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr)
|
rs2127400485
|
|
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
|
|
|
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
|
|
|
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
|
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met)
|
rs1580908028
|
|
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe)
|
rs1754319874
|
|
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser)
|
rs1204913371
|
|
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
|
rs757292503
|
|
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
|
|
|
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
|
|
|
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly)
|
rs763037689
|
|
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys)
|
rs2127400005
|
|
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)
|
rs1233598157
|
|
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
|
rs1465198831
|
|
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala)
|
rs1754317882
|
|
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
|
rs1754317705
|
|
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
|
rs1754317366
|
|
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu)
|
rs1251082752
|
|
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)
|
rs1754316407
|
|
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
|
|
|