NM_003036.4(SKI):c.970-166A>G
|
rs1496555
|
0.87546
|
NM_003036.4(SKI):c.1475-60C>T
|
rs2843159
|
0.27552
|
NM_003036.4(SKI):c.1211+180T>C
|
rs4648631
|
0.21890
|
NM_003036.4(SKI):c.969+316C>T
|
rs3765930
|
0.20949
|
NM_003036.4(SKI):c.1211+64C>T
|
rs2256178
|
0.20663
|
NM_003036.4(SKI):c.1475-70G>A
|
rs2645073
|
0.19245
|
NM_003036.4(SKI):c.1095+90G>A
|
rs2279702
|
0.13014
|
NM_003036.4(SKI):c.*33A>T
|
rs2230008
|
0.11700
|
NM_003036.4(SKI):c.1475-76G>A
|
rs11577387
|
0.10612
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_003036.4(SKI):c.1768-307T>G
|
rs75635289
|
0.03451
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_003036.4(SKI):c.1998+63T>C
|
rs186951424
|
0.00910
|
NM_003036.4(SKI):c.1096-39T>C
|
rs190301434
|
0.00779
|
NM_003036.4(SKI):c.1767+37C>T
|
rs114330959
|
0.00758
|
NM_003036.4(SKI):c.969+323C>T
|
rs144963770
|
0.00724
|
NM_003036.4(SKI):c.1211+173C>T
|
rs150347326
|
0.00708
|
NM_003036.4(SKI):c.1999-43A>G
|
rs371963326
|
0.00651
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_003036.4(SKI):c.*39G>A
|
rs191800649
|
0.00569
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_003036.4(SKI):c.1999-70G>T
|
rs550656878
|
0.00390
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_003036.4(SKI):c.417C>T (p.Ile139=)
|
rs144874401
|
0.00076
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003036.4(SKI):c.1308C>T (p.Ala436=)
|
rs139034124
|
0.00064
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
|
rs150934009
|
0.00035
|
NM_003036.4(SKI):c.516C>T (p.Pro172=)
|
rs182513685
|
0.00032
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_003036.4(SKI):c.1767+9G>C
|
rs181520853
|
0.00028
|
NM_003036.4(SKI):c.1302G>A (p.Pro434=)
|
rs111459205
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_003036.4(SKI):c.1440G>A (p.Ser480=)
|
rs185754530
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.1254C>T (p.Asn418=)
|
rs536126761
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_003036.4(SKI):c.105G>A (p.Pro35=)
|
rs778180778
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003036.4(SKI):c.1164G>A (p.Ala388=)
|
rs780171614
|
0.00009
|
NM_003036.4(SKI):c.1269G>A (p.Pro423=)
|
rs375600617
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003036.4(SKI):c.1587G>A (p.Ala529=)
|
rs542301067
|
0.00007
|
NM_003036.4(SKI):c.*17C>T
|
rs746845280
|
0.00006
|
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)
|
rs376736872
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)
|
rs764317955
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.1096-5G>A
|
rs566936949
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003036.4(SKI):c.1263C>T (p.Leu421=)
|
rs773045410
|
0.00005
|
NM_003036.4(SKI):c.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003036.4(SKI):c.1041C>T (p.Ser347=)
|
rs140745811
|
0.00004
|
NM_003036.4(SKI):c.1096-6C>T
|
rs201304370
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003036.4(SKI):c.138C>T (p.Ala46=)
|
rs745527890
|
0.00004
|
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1767+12G>A
|
rs772577806
|
0.00004
|
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)
|
rs753070477
|
0.00004
|
NM_003036.4(SKI):c.696G>A (p.Leu232=)
|
rs748272908
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.1124G>A (p.Arg375His)
|
rs762209697
|
0.00003
|
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)
|
rs1553200926
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1445C>T (p.Ala482Val)
|
rs372475723
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1866G>A (p.Glu622=)
|
rs748886393
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.188C>T (p.Pro63Leu)
|
rs766569890
|
0.00003
|
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
|
rs778456446
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu)
|
rs367916348
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)
|
rs770539313
|
0.00002
|
NM_003036.4(SKI):c.1032C>T (p.Pro344=)
|
rs766656095
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.1128C>T (p.Leu376=)
|
rs773793743
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1212-21G>C
|
rs552065460
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1485C>T (p.Ser495=)
|
rs964817956
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1506G>A (p.Pro502=)
|
rs975738197
|
0.00001
|
NM_003036.4(SKI):c.1521C>T (p.Ser507=)
|
rs1430227962
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.1999-11C>T
|
rs1022360604
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2125C>T (p.Leu709=)
|
rs1478769141
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys)
|
rs1361712039
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.324G>A (p.Glu108=)
|
rs201144990
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.573C>T (p.Tyr191=)
|
rs777704639
|
0.00001
|
NM_003036.4(SKI):c.611C>T (p.Ala204Val)
|
rs772336192
|
0.00001
|
NM_003036.4(SKI):c.896G>T (p.Arg299Leu)
|
rs1482824984
|
0.00001
|
NM_003036.4(SKI):c.906C>T (p.Arg302=)
|
rs772758586
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.*17_*36del
|
rs1356960548
|
|
NM_003036.4(SKI):c.*4C>T
|
rs1330809659
|
|
NM_003036.4(SKI):c.-11C>G
|
rs1246353625
|
|
NM_003036.4(SKI):c.-46C>T
|
rs1569656260
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.1025A>G (p.Gln342Arg)
|
rs377336741
|
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1028C>A (p.Ser343Tyr)
|
rs988023964
|
|
NM_003036.4(SKI):c.1032dup (p.Ala345fs)
|
|
|
NM_003036.4(SKI):c.1039del (p.Ser347fs)
|
rs1553200666
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1096-7T>G
|
rs2100916839
|
|
NM_003036.4(SKI):c.1098C>G (p.Ser366Arg)
|
rs1553200726
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1139G>A (p.Arg380Gln)
|
rs760033804
|
|
NM_003036.4(SKI):c.1148C>T (p.Ser383Phe)
|
|
|
NM_003036.4(SKI):c.1183C>T (p.Pro395Ser)
|
rs773512836
|
|
NM_003036.4(SKI):c.1186C>A (p.His396Asn)
|
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.1198C>T (p.Leu400Phe)
|
rs1206358847
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.1238C>T (p.Thr413Ile)
|
rs2100918212
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1275C>T (p.Ala425=)
|
rs1569859908
|
|
NM_003036.4(SKI):c.1311C>G (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.136G>T (p.Ala46Ser)
|
rs1300049118
|
|
NM_003036.4(SKI):c.137C>G (p.Ala46Gly)
|
rs1210974703
|
|
NM_003036.4(SKI):c.13G>A (p.Ala5Thr)
|
rs2100789382
|
|
NM_003036.4(SKI):c.1421C>T (p.Pro474Leu)
|
rs1553200918
|
|
NM_003036.4(SKI):c.1425G>A (p.Glu475=)
|
rs766659705
|
|
NM_003036.4(SKI):c.1447del (p.Glu483fs)
|
rs1553200934
|
|
NM_003036.4(SKI):c.1509C>G (p.Ser503=)
|
rs1338756413
|
|
NM_003036.4(SKI):c.1547C>A (p.Pro516Gln)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.15_24dup (p.Gly9fs)
|
rs1553189805
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.1687C>T (p.Leu563=)
|
rs868545143
|
|
NM_003036.4(SKI):c.1720GAG[1] (p.Glu575del)
|
|
|
NM_003036.4(SKI):c.173C>T (p.Ala58Val)
|
rs1638564960
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1765dup (p.Gln589fs)
|
rs2100920538
|
|
NM_003036.4(SKI):c.1768-211A>G
|
rs11580302
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.1827G>A (p.Lys609=)
|
rs1324710541
|
|
NM_003036.4(SKI):c.183G>C (p.Pro61=)
|
rs774187595
|
|
NM_003036.4(SKI):c.1840_1842del (p.Lys614del)
|
rs2100924042
|
|
NM_003036.4(SKI):c.1870G>C (p.Glu624Gln)
|
rs1380239367
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1890C>A (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1934G>A (p.Arg645Gln)
|
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1943G>C (p.Arg648Pro)
|
rs1489484319
|
|
NM_003036.4(SKI):c.1945G>C (p.Val649Leu)
|
|
|
NM_003036.4(SKI):c.1950C>A (p.Cys650Ter)
|
rs113979182
|
|
NM_003036.4(SKI):c.195C>T (p.Pro65=)
|
rs1300771712
|
|
NM_003036.4(SKI):c.1968G>T (p.Ala656=)
|
rs754572866
|
|
NM_003036.4(SKI):c.1976T>G (p.Leu659Arg)
|
rs1421285699
|
|
NM_003036.4(SKI):c.1991C>T (p.Ser664Leu)
|
rs1306616273
|
|
NM_003036.4(SKI):c.1994C>T (p.Ala665Val)
|
rs1557854261
|
|
NM_003036.4(SKI):c.1999-153C>G
|
rs57825631
|
|
NM_003036.4(SKI):c.19G>A (p.Gly7Ser)
|
rs2100789403
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2050dup (p.Leu684fs)
|
|
|
NM_003036.4(SKI):c.2057C>T (p.Ala686Val)
|
rs1216955747
|
|
NM_003036.4(SKI):c.2094G>A (p.Leu698=)
|
|
|
NM_003036.4(SKI):c.2115G>A (p.Leu705=)
|
rs890619764
|
|
NM_003036.4(SKI):c.212C>T (p.Pro71Leu)
|
|
|
NM_003036.4(SKI):c.2135G>T (p.Arg712Leu)
|
rs1418253983
|
|
NM_003036.4(SKI):c.2155G>A (p.Gly719Ser)
|
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2173_2184dup (p.Pro728_Ter729insGluLeuGluPro)
|
|
|
NM_003036.4(SKI):c.2185_*15del (p.Ter729del)
|
|
|
NM_003036.4(SKI):c.225C>T (p.His75=)
|
rs1553189880
|
|
NM_003036.4(SKI):c.246G>A (p.Pro82=)
|
rs1569657892
|
|
NM_003036.4(SKI):c.259C>T (p.Pro87Ser)
|
|
|
NM_003036.4(SKI):c.266C>G (p.Pro89Arg)
|
rs2100789913
|
|
NM_003036.4(SKI):c.26G>A (p.Gly9Asp)
|
rs2100789413
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003036.4(SKI):c.349G>A (p.Gly117Ser)
|
rs869312901
|
|
NM_003036.4(SKI):c.349G>C (p.Gly117Arg)
|
rs869312901
|
|
NM_003036.4(SKI):c.37C>G (p.Pro13Ala)
|
rs1460907031
|
|
NM_003036.4(SKI):c.41A>C (p.His14Pro)
|
rs1232615367
|
|
NM_003036.4(SKI):c.437_439dup (p.Leu146dup)
|
rs1553189926
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.44C>T (p.Pro15Leu)
|
|
|
NM_003036.4(SKI):c.451T>C (p.Ser151Pro)
|
rs1638575037
|
|
NM_003036.4(SKI):c.46G>A (p.Gly16Arg)
|
|
|
NM_003036.4(SKI):c.474G>T (p.Leu158=)
|
rs1569658918
|
|
NM_003036.4(SKI):c.499_500delinsGG (p.Leu167Gly)
|
rs863223724
|
|
NM_003036.4(SKI):c.505T>C (p.Phe169Leu)
|
|
|
NM_003036.4(SKI):c.509C>T (p.Ser170Leu)
|
rs2100790364
|
|
NM_003036.4(SKI):c.511G>A (p.Ala171Thr)
|
rs762117658
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003036.4(SKI):c.605A>C (p.Glu202Ala)
|
rs977288994
|
|
NM_003036.4(SKI):c.636_658del (p.Glu212fs)
|
|
|
NM_003036.4(SKI):c.656G>A (p.Arg219His)
|
rs1638580742
|
|
NM_003036.4(SKI):c.674T>G (p.Phe225Cys)
|
rs2100790704
|
|
NM_003036.4(SKI):c.686dup (p.Leu231fs)
|
|
|
NM_003036.4(SKI):c.712A>G (p.Ser238Gly)
|
|
|
NM_003036.4(SKI):c.727G>A (p.Ala243Thr)
|
|
|
NM_003036.4(SKI):c.736C>T (p.Gln246Ter)
|
rs1064796874
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.793A>G (p.Lys265Glu)
|
rs2100790915
|
|
NM_003036.4(SKI):c.796_797delinsT (p.Ala266fs)
|
rs1553190048
|
|
NM_003036.4(SKI):c.845G>A (p.Arg282Gln)
|
rs1057524781
|
|
NM_003036.4(SKI):c.851A>G (p.Tyr284Cys)
|
rs2100791019
|
|
NM_003036.4(SKI):c.855C>T (p.Ile285=)
|
rs1368309114
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.910C>T (p.Leu304=)
|
rs1569660988
|
|
NM_003036.4(SKI):c.953dup (p.Arg319fs)
|
rs2100791272
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969+10971T>C
|
|
|
NM_003036.4(SKI):c.969+18173C>T
|
|
|
NM_003036.4(SKI):c.969+18344C>T
|
|
|
NM_003036.4(SKI):c.969+53C>T
|
rs186753945
|
|
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|