NM_024422.6(DSC2):c.*1658G>A
|
rs185216732
|
0.00455
|
NM_024422.6(DSC2):c.*1017C>T
|
rs191171295
|
0.00357
|
NM_024422.6(DSC2):c.*1237G>A
|
rs28530723
|
0.00292
|
NM_024422.6(DSC2):c.*185A>G
|
rs147458812
|
0.00227
|
NM_024422.6(DSC2):c.*764T>A
|
rs539965523
|
0.00140
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_024422.6(DSC2):c.*1541A>T
|
rs571420655
|
0.00101
|
NM_024422.6(DSC2):c.*534A>G
|
rs373266930
|
0.00083
|
NM_024422.6(DSC2):c.*1104G>A
|
rs186055396
|
0.00080
|
NM_024422.6(DSC2):c.*1784G>T
|
rs375290800
|
0.00073
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_024422.6(DSC2):c.*472T>A
|
rs555348907
|
0.00045
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_024422.6(DSC2):c.*1927T>C
|
rs532718510
|
0.00026
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_024422.6(DSC2):c.*1628T>G
|
rs767804423
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_024422.6(DSC2):c.*1704G>T
|
rs181853776
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_024422.6(DSC2):c.*2029A>T
|
rs548041881
|
0.00014
|
NM_024422.6(DSC2):c.*1158A>G
|
rs749440073
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
NM_024422.6(DSC2):c.*1408A>G
|
rs539091896
|
0.00011
|
NM_024422.6(DSC2):c.*753T>G
|
rs940327323
|
0.00011
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala)
|
rs537381028
|
0.00009
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024422.6(DSC2):c.1264-18A>G
|
rs374946259
|
0.00006
|
NM_024422.6(DSC2):c.1291A>G (p.Met431Val)
|
rs377287621
|
0.00006
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
NM_024422.6(DSC2):c.*1972A>C
|
rs751949322
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
NM_024422.6(DSC2):c.*1346T>A
|
rs1029495207
|
0.00004
|
NM_024422.6(DSC2):c.*1444A>G
|
rs886053684
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)
|
rs202031070
|
0.00004
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr)
|
rs978623916
|
0.00004
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile)
|
rs1270395120
|
0.00004
|
NM_024422.6(DSC2):c.*166C>G
|
rs886053692
|
0.00003
|
NM_024422.6(DSC2):c.*864G>A
|
rs746780312
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
NM_024422.6(DSC2):c.2020G>A (p.Glu674Lys)
|
rs1483383737
|
0.00003
|
NM_024422.6(DSC2):c.2036A>G (p.His679Arg)
|
rs145710244
|
0.00003
|
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser)
|
rs199616533
|
0.00003
|
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr)
|
rs145831682
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu)
|
rs864622708
|
0.00003
|
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu)
|
rs373697870
|
0.00003
|
NM_024422.6(DSC2):c.*1110A>G
|
rs1358624129
|
0.00002
|
NM_024422.6(DSC2):c.*1356G>A
|
rs1986629320
|
0.00002
|
NM_024422.6(DSC2):c.*784G>T
|
rs1613246
|
0.00002
|
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val)
|
rs1177194145
|
0.00002
|
NM_024422.6(DSC2):c.1219G>T (p.Val407Leu)
|
rs751861273
|
0.00002
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
NM_024422.6(DSC2):c.1438A>G (p.Met480Val)
|
rs370616107
|
0.00002
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala)
|
rs753887142
|
0.00002
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)
|
rs776401728
|
0.00002
|
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp)
|
rs748675400
|
0.00002
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
NM_024422.6(DSC2):c.824C>T (p.Thr275Met)
|
rs397517404
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
|
rs767340313
|
0.00002
|
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)
|
rs531245154
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
NM_024422.6(DSC2):c.*1401C>T
|
rs886053685
|
0.00001
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)
|
rs538663626
|
0.00001
|
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val)
|
rs1987251997
|
0.00001
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln)
|
rs770412621
|
0.00001
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser)
|
rs1293927459
|
0.00001
|
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu)
|
rs775579662
|
0.00001
|
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp)
|
rs148712725
|
0.00001
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln)
|
rs1208470556
|
0.00001
|
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser)
|
rs149316362
|
0.00001
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
NM_024422.6(DSC2):c.146T>C (p.Val49Ala)
|
rs1275514075
|
0.00001
|
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg)
|
rs756803622
|
0.00001
|
NM_024422.6(DSC2):c.1520+6T>C
|
rs1029243199
|
0.00001
|
NM_024422.6(DSC2):c.1521-18A>G
|
rs886506694
|
0.00001
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
NM_024422.6(DSC2):c.154+6G>A
|
rs778131915
|
0.00001
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
NM_024422.6(DSC2):c.155-3C>T
|
rs745988877
|
0.00001
|
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)
|
rs766187198
|
0.00001
|
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala)
|
rs794728070
|
0.00001
|
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu)
|
rs887847751
|
0.00001
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
|
rs1418248949
|
0.00001
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg)
|
rs1598580423
|
0.00001
|
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala)
|
rs1314129882
|
0.00001
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr)
|
rs1399123480
|
0.00001
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu)
|
rs761123301
|
0.00001
|
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
|
rs915888072
|
0.00001
|
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile)
|
rs1447974524
|
0.00001
|
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg)
|
rs377384219
|
0.00001
|
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala)
|
rs1191039477
|
0.00001
|
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe)
|
rs764355417
|
0.00001
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser)
|
rs369281243
|
0.00001
|
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala)
|
rs368353349
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile)
|
rs758646191
|
0.00001
|
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu)
|
rs1423264468
|
0.00001
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr)
|
rs1386709734
|
0.00001
|
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu)
|
rs768784624
|
0.00001
|
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn)
|
rs397517397
|
0.00001
|
NM_024422.6(DSC2):c.2108G>T (p.Gly703Val)
|
rs1218967716
|
0.00001
|
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly)
|
rs755534194
|
0.00001
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)
|
rs764008863
|
0.00001
|
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg)
|
rs1170934513
|
0.00001
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu)
|
rs780610767
|
0.00001
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val)
|
rs771628564
|
0.00001
|
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu)
|
rs772898155
|
0.00001
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
NM_024422.6(DSC2):c.2342A>G (p.Gln781Arg)
|
rs1244664122
|
0.00001
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr)
|
rs397517398
|
0.00001
|
NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg)
|
rs1335955296
|
0.00001
|
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu)
|
rs794728071
|
0.00001
|
NM_024422.6(DSC2):c.2408A>G (p.His803Arg)
|
rs150124218
|
0.00001
|
NM_024422.6(DSC2):c.2419G>C (p.Asp807His)
|
rs748323101
|
0.00001
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.2446G>A (p.Val816Met)
|
rs377700521
|
0.00001
|
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)
|
rs1454999415
|
0.00001
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
NM_024422.6(DSC2):c.2509-116A>G
|
rs746058773
|
0.00001
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr)
|
rs1312909126
|
0.00001
|
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu)
|
rs778423904
|
0.00001
|
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)
|
rs760363798
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
NM_024422.6(DSC2):c.2642T>A (p.Leu881His)
|
rs1231247825
|
0.00001
|
NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys)
|
rs374178074
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)
|
rs1027240725
|
0.00001
|
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)
|
rs1986684188
|
0.00001
|
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)
|
rs1256252633
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.355-3G>T
|
rs975997446
|
0.00001
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
NM_024422.6(DSC2):c.412G>A (p.Ala138Thr)
|
rs1405349273
|
0.00001
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg)
|
rs1220979594
|
0.00001
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys)
|
rs374844700
|
0.00001
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr)
|
rs1185834011
|
0.00001
|
NM_024422.6(DSC2):c.508T>C (p.Tyr170His)
|
rs1484093917
|
0.00001
|
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys)
|
rs759910399
|
0.00001
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu)
|
rs1987521149
|
0.00001
|
NM_024422.6(DSC2):c.549G>T (p.Arg183=)
|
rs774025474
|
0.00001
|
NM_024422.6(DSC2):c.587A>G (p.Tyr196Cys)
|
rs1987518387
|
0.00001
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
|
rs753004247
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024422.6(DSC2):c.631-3C>T
|
rs1262481741
|
0.00001
|
NM_024422.6(DSC2):c.638C>T (p.Ala213Val)
|
rs1299475740
|
0.00001
|
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala)
|
rs755298693
|
0.00001
|
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys)
|
rs1265924444
|
0.00001
|
NM_024422.6(DSC2):c.697A>G (p.Ile233Val)
|
rs886039077
|
0.00001
|
NM_024422.6(DSC2):c.70A>G (p.Ile24Val)
|
rs1228372400
|
0.00001
|
NM_024422.6(DSC2):c.740C>A (p.Thr247Asn)
|
rs1171077859
|
0.00001
|
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn)
|
rs1987447409
|
0.00001
|
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly)
|
rs1253861748
|
0.00001
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
NM_024422.6(DSC2):c.836G>A (p.Arg279His)
|
rs775614779
|
0.00001
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
NM_024422.6(DSC2):c.893A>T (p.His298Leu)
|
rs397517407
|
0.00001
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)
|
rs769219956
|
0.00001
|
GRCh37/hg19 18q12.1(chr18:28628215-28683174)x1
|
|
|
NC_000018.9:g.(?_28647961)_(28681954_?)dup
|
|
|
NC_000018.9:g.(?_28647971)_(28673616_?)dup
|
|
|
NC_000018.9:g.(?_28647981)_(28681934_?)dup
|
|
|
NM_004949.5(DSC2):c.1234dup (p.Thr412fs)
|
rs397517390
|
|
NM_024422.6(DSC2):c.*1003T>C
|
rs1986642855
|
|
NM_024422.6(DSC2):c.*1126G>T
|
rs886053687
|
|
NM_024422.6(DSC2):c.*1183G>A
|
rs886053686
|
|
NM_024422.6(DSC2):c.*1453C>T
|
rs886053683
|
|
NM_024422.6(DSC2):c.*1700T>C
|
rs1986617619
|
|
NM_024422.6(DSC2):c.*1877T>G
|
rs1986611103
|
|
NM_024422.6(DSC2):c.*1923C>A
|
rs886053682
|
|
NM_024422.6(DSC2):c.*3G>T
|
rs1239137048
|
|
NM_024422.6(DSC2):c.*422C>T
|
rs769685892
|
|
NM_024422.6(DSC2):c.*640G>T
|
rs886053691
|
|
NM_024422.6(DSC2):c.*692A>G
|
rs1986657464
|
|
NM_024422.6(DSC2):c.*705G>A
|
rs372988931
|
|
NM_024422.6(DSC2):c.*709CT[3]
|
rs886053690
|
|
NM_024422.6(DSC2):c.*764dup
|
rs796836744
|
|
NM_024422.6(DSC2):c.*798T>C
|
rs1208729636
|
|
NM_024422.6(DSC2):c.*833G>C
|
rs886053689
|
|
NM_024422.6(DSC2):c.*926G>A
|
rs1188292553
|
|
NM_024422.6(DSC2):c.*934C>A
|
rs886053688
|
|
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val)
|
rs397517388
|
|
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
|
|
|
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
|
|
|
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val)
|
rs1409325550
|
|
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr)
|
rs1567978329
|
|
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del)
|
rs1555639121
|
|
NM_024422.6(DSC2):c.1035T>G (p.Ile345Met)
|
rs1255214987
|
|
NM_024422.6(DSC2):c.1037A>T (p.Asp346Val)
|
rs1567978310
|
|
NM_024422.6(DSC2):c.1040A>G (p.Asp347Gly)
|
rs2144821231
|
|
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met)
|
rs2144821150
|
|
NM_024422.6(DSC2):c.1057C>G (p.Pro353Ala)
|
rs999869714
|
|
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu)
|
rs1208688367
|
|
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser)
|
rs2144821078
|
|
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala)
|
rs2144850401
|
|
NM_024422.6(DSC2):c.1070G>T (p.Arg357Leu)
|
|
|
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
|
|
|
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn)
|
rs139399951
|
|
NM_024422.6(DSC2):c.1077+2T>G
|
rs397517389
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
NM_024422.6(DSC2):c.1078-6T>G
|
rs1555639038
|
|
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser)
|
rs1428685920
|
|
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
|
|
|
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala)
|
rs1598583223
|
|
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
|
|
|
NM_024422.6(DSC2):c.1111G>A (p.Val371Met)
|
rs1252791235
|
|
NM_024422.6(DSC2):c.1111G>T (p.Val371Leu)
|
rs1252791235
|
|
NM_024422.6(DSC2):c.1112T>C (p.Val371Ala)
|
rs772863598
|
|
NM_024422.6(DSC2):c.1122_1123insAA (p.Arg375fs)
|
rs2144819390
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
|
|
|
NM_024422.6(DSC2):c.114T>A (p.His38Gln)
|
rs1987672342
|
|
NM_024422.6(DSC2):c.1157C>G (p.Thr386Ser)
|
rs1567977932
|
|
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile)
|
rs587782937
|
|
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
|
|
|
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
|
|
|
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser)
|
rs1060502991
|
|
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys)
|
rs1598583039
|
|
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
|
|
|
NM_024422.6(DSC2):c.1210T>G (p.Phe404Val)
|
rs1987247302
|
|
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter)
|
rs1023394201
|
|
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn)
|
rs781472939
|
|
NM_024422.6(DSC2):c.121T>C (p.Ser41Pro)
|
rs2144850316
|
|
NM_024422.6(DSC2):c.122C>T (p.Ser41Phe)
|
|
|
NM_024422.6(DSC2):c.1232A>G (p.Lys411Arg)
|
rs1567977831
|
|
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile)
|
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys)
|
rs765511398
|
|
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
|
|
|
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
|
|
|
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
|
|
|
NM_024422.6(DSC2):c.1263+2dup
|
rs1987243669
|
|
NM_024422.6(DSC2):c.1263+3_1263+4insG
|
rs1987243436
|
|
NM_024422.6(DSC2):c.1263+5G>A
|
rs1329734211
|
|
NM_024422.6(DSC2):c.1263+5G>T
|
|
|
NM_024422.6(DSC2):c.1264-11T>G
|
|
|
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
|
|
|
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys)
|
rs794728076
|
|
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
|
|
|
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)
|
rs1238451971
|
|
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
|
|
|
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
|
|
|
NM_024422.6(DSC2):c.1290G>C (p.Gln430His)
|
rs191461349
|
|
NM_024422.6(DSC2):c.1292T>C (p.Met431Thr)
|
rs766923814
|
|
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
|
|
|
NM_024422.6(DSC2):c.1301A>C (p.Gln434Pro)
|
|
|
NM_024422.6(DSC2):c.1307G>A (p.Gly436Asp)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1307G>C (p.Gly436Ala)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
|
|
|
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
|
|
|
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
|
|
|
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr)
|
rs2144814171
|
|
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del)
|
rs1987173347
|
|
NM_024422.6(DSC2):c.1322C>T (p.Ala441Val)
|
rs1987173725
|
|
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
|
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
NM_024422.6(DSC2):c.1335A>C (p.Arg445Ser)
|
|
|
NM_024422.6(DSC2):c.1339G>A (p.Ala447Thr)
|
rs2144814116
|
|
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
|
|
|
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del)
|
rs1301674152
|
|
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn)
|
rs778959850
|
|
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
|
|
|
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
|
|
|
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg)
|
rs1394323673
|
|
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser)
|
rs144242114
|
|
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter)
|
rs794728068
|
|
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu)
|
rs794728068
|
|
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
|
|
|
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
|
|
|
NM_024422.6(DSC2):c.1398T>A (p.Asp466Glu)
|
|
|
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser)
|
rs2144813745
|
|
NM_024422.6(DSC2):c.1412G>A (p.Cys471Tyr)
|
rs1314641804
|
|
NM_024422.6(DSC2):c.1417C>T (p.Pro473Ser)
|
rs865914095
|
|
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu)
|
rs1987166340
|
|
NM_024422.6(DSC2):c.1423A>T (p.Ile475Leu)
|
|
|
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr)
|
rs1022023137
|
|
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
|
|
|
NM_024422.6(DSC2):c.142C>G (p.Leu48Val)
|
rs769776739
|
|
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)
|
rs769776739
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1444G>A (p.Glu482Lys)
|
rs1987164342
|
|
NM_024422.6(DSC2):c.1448A>T (p.Asn483Ile)
|
rs1987164076
|
|
NM_024422.6(DSC2):c.1462A>G (p.Thr488Ala)
|
rs1987163518
|
|
NM_024422.6(DSC2):c.1465A>G (p.Thr489Ala)
|
rs1987163251
|
|
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
|
|
|
NM_024422.6(DSC2):c.1468A>G (p.Ser490Gly)
|
rs2144813452
|
|
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg)
|
rs1237446574
|
|
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser)
|
rs770114301
|
|
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
|
|
|
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
|
|
|
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys)
|
rs1987162049
|
|
NM_024422.6(DSC2):c.1490A>T (p.Asp497Val)
|
rs2144813366
|
|
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
|
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp)
|
rs1987160435
|
|
NM_024422.6(DSC2):c.1520+4C>T
|
|
|
NM_024422.6(DSC2):c.1520G>A (p.Arg507Lys)
|
rs2144813287
|
|
NM_024422.6(DSC2):c.1521-13T>A
|
rs794728069
|
|
NM_024422.6(DSC2):c.1521G>A (p.Arg507=)
|
|
|
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys)
|
rs1987155402
|
|
NM_024422.6(DSC2):c.1530A>C (p.Lys510Asn)
|
|
|
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
|
|
|
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala)
|
rs771406828
|
|
NM_024422.6(DSC2):c.1544C>T (p.Thr515Ile)
|
|
|
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
|
|
|
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
|
|
|
NM_024422.6(DSC2):c.155-1G>A
|
rs1987629887
|
|
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile)
|
rs397517394
|
|
NM_024422.6(DSC2):c.1552G>T (p.Val518Phe)
|
|
|
NM_024422.6(DSC2):c.1555A>G (p.Thr519Ala)
|
rs1987153246
|
|
NM_024422.6(DSC2):c.1556C>A (p.Thr519Asn)
|
|
|
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
|
|
|
NM_024422.6(DSC2):c.1556C>T (p.Thr519Ile)
|
rs1987153056
|
|
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
|
|
|
NM_024422.6(DSC2):c.155T>C (p.Val52Ala)
|
rs1987629779
|
|
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala)
|
rs1987152292
|
|
NM_024422.6(DSC2):c.1564G>A (p.Glu522Lys)
|
|
|
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
|
|
|
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
|
|
|
NM_024422.6(DSC2):c.1588T>C (p.Phe530Leu)
|
rs939273596
|
|
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
|
|
|
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly)
|
rs727502981
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
NM_024422.6(DSC2):c.1594A>G (p.Ser532Gly)
|
rs2144812707
|
|
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn)
|
rs1987150000
|
|
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn)
|
rs1555638635
|
|
NM_024422.6(DSC2):c.1601A>T (p.Asp534Val)
|
|
|
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
|
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
|
NM_024422.6(DSC2):c.1634ATA[1] (p.Asn546del)
|
rs1485939608
|
|
NM_024422.6(DSC2):c.164A>T (p.Lys55Ile)
|
rs2144847063
|
|
NM_024422.6(DSC2):c.1651G>A (p.Ala551Thr)
|
rs1987146258
|
|
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
|
|
|
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg)
|
rs1987145211
|
|
NM_024422.6(DSC2):c.1664-1G>C
|
rs776877367
|
|
NM_024422.6(DSC2):c.1664G>A (p.Gly555Glu)
|
rs766681408
|
|
NM_024422.6(DSC2):c.1673C>T (p.Thr558Ile)
|
rs1277586365
|
|
NM_024422.6(DSC2):c.1675T>C (p.Cys559Arg)
|
|
|
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr)
|
rs773866217
|
|
NM_024422.6(DSC2):c.1681G>C (p.Gly561Arg)
|
rs2144800482
|
|
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp)
|
rs1555640202
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
NM_024422.6(DSC2):c.1706A>T (p.Asp569Val)
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024422.6(DSC2):c.1708G>A (p.Val570Met)
|
rs992887444
|
|
NM_024422.6(DSC2):c.1708G>C (p.Val570Leu)
|
rs992887444
|
|
NM_024422.6(DSC2):c.1711A>T (p.Asn571Tyr)
|
rs2144800393
|
|
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val)
|
rs1030017004
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr)
|
rs2144800248
|
|
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met)
|
rs2144800239
|
|
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
|
|
|
NM_024422.6(DSC2):c.1735A>G (p.Lys579Glu)
|
rs1358638028
|
|
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
|
|
|
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
|
|
|
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro)
|
rs1266547190
|
|
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
|
|
|
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala)
|
rs1986959880
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe)
|
rs755041461
|
|
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
|
|
|
NM_024422.6(DSC2):c.1763C>T (p.Thr588Ile)
|
rs1674674418
|
|
NM_024422.6(DSC2):c.1765A>G (p.Met589Val)
|
rs1442456553
|
|
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys)
|
rs201856473
|
|
NM_024422.6(DSC2):c.1767G>A (p.Met589Ile)
|
rs2144800002
|
|
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile)
|
|
|
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu)
|
rs1365493039
|
|
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val)
|
rs1365493039
|
|
NM_024422.6(DSC2):c.1782T>G (p.Ile594Met)
|
|
|
NM_024422.6(DSC2):c.1783G>T (p.Val595Phe)
|
|
|
NM_024422.6(DSC2):c.1786G>A (p.Ala596Thr)
|
rs1438904893
|
|
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
|
|
|
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
|
|
|
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
|
|
|
NM_024422.6(DSC2):c.1812T>A (p.His604Gln)
|
rs781010501
|
|
NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr)
|
rs1598575823
|
|
NM_024422.6(DSC2):c.1819C>T (p.Pro607Ser)
|
|
|
NM_024422.6(DSC2):c.1823T>A (p.Phe608Tyr)
|
|
|
NM_024422.6(DSC2):c.1823_1828delinsATGACC (p.Phe608_Phe610delinsTyrAspLeu)
|
rs2144799644
|
|
NM_024422.6(DSC2):c.1828T>C (p.Phe610Leu)
|
|
|
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu)
|
rs758707293
|
|
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly)
|
rs758707293
|
|
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
|
|
|
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln)
|
rs777716519
|
|
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly)
|
rs1986952876
|
|
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser)
|
rs753887142
|
|
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
|
|
|
NM_024422.6(DSC2):c.1866G>A (p.Met622Ile)
|
rs2144799406
|
|
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
|
|
|
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys)
|
rs748644229
|
|
NM_024422.6(DSC2):c.1871G>T (p.Arg624Ile)
|
|
|
NM_024422.6(DSC2):c.1873C>G (p.Leu625Val)
|
|
|
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
|
|
|
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val)
|
rs1986950360
|
|
NM_024422.6(DSC2):c.1888+1G>C
|
rs1986950096
|
|
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
|
|
|
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
|
|
|
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
|
|
|
NM_024422.6(DSC2):c.1898C>T (p.Ala633Val)
|
rs1986847217
|
|
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys)
|
rs1443409965
|
|
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu)
|
rs200475862
|
|
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys)
|
rs764355417
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
NM_024422.6(DSC2):c.1925C>T (p.Pro642Leu)
|
|
|
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu)
|
rs1339580561
|
|
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
|
|
|
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
|
|
|
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer)
|
rs1986844120
|
|
NM_024422.6(DSC2):c.193C>G (p.His65Asp)
|
rs2144846957
|
|
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala)
|
rs1986843978
|
|
NM_024422.6(DSC2):c.1946C>T (p.Pro649Leu)
|
rs765948147
|
|
NM_024422.6(DSC2):c.1953A>G (p.Thr651=)
|
|
|
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly)
|
rs1598573489
|
|
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn)
|
rs1315556709
|
|
NM_024422.6(DSC2):c.1960G>C (p.Asp654His)
|
rs1315556709
|
|
NM_024422.6(DSC2):c.1960_1961del (p.Arg653_Asp654insTer)
|
rs2144791474
|
|
NM_024422.6(DSC2):c.1966C>T (p.Leu656Phe)
|
rs2144791442
|
|
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val)
|
rs1986842583
|
|
NM_024422.6(DSC2):c.1972A>G (p.Met658Val)
|
rs1986842279
|
|
NM_024422.6(DSC2):c.1976C>T (p.Ser659Phe)
|
|
|
NM_024422.6(DSC2):c.1978del (p.Ser660fs)
|
rs1986841708
|
|
NM_024422.6(DSC2):c.1984A>G (p.Thr662Ala)
|
rs1986840957
|
|
NM_024422.6(DSC2):c.1985del (p.Thr662fs)
|
|
|
NM_024422.6(DSC2):c.1987T>G (p.Ser663Ala)
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
NM_024422.6(DSC2):c.2003T>C (p.Leu668Pro)
|
rs1432852100
|
|
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
|
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
|
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr)
|
rs1567973075
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2039G>A (p.Arg680His)
|
rs374002111
|
|
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
|
|
|
NM_024422.6(DSC2):c.2046T>A (p.Asp682Glu)
|
rs1161794192
|
|
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr)
|
rs1598573230
|
|
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg)
|
rs199616533
|
|
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
|
|
|
NM_024422.6(DSC2):c.205C>T (p.Pro69Ser)
|
rs1987627721
|
|
NM_024422.6(DSC2):c.2063G>A (p.Gly688Glu)
|
|
|
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
|
|
|
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro)
|
rs1567972995
|
|
NM_024422.6(DSC2):c.2092C>T (p.Leu698Phe)
|
rs1555637561
|
|
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
|
|
|
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val)
|
rs2144790608
|
|
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val)
|
rs1986830558
|
|
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup)
|
rs2144790582
|
|
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
|
|
|
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
|
|
|
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
|
|
|
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu)
|
rs1986830020
|
|
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr)
|
rs1986829904
|
|
NM_024422.6(DSC2):c.2119C>G (p.Leu707Val)
|
rs1986829406
|
|
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
|
|
|
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
|
|
|
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
|
|
|
NM_024422.6(DSC2):c.2125+1G>A
|
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2125+5G>T
|
rs1986828460
|
|
NM_024422.6(DSC2):c.2126-11_2126-8del
|
rs1476161781
|
|
NM_024422.6(DSC2):c.2126G>C (p.Cys709Ser)
|
rs145831682
|
|
NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)
|
|
|
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)
|
rs180863872
|
|
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr)
|
rs764008863
|
|
NM_024422.6(DSC2):c.2152G>T (p.Ala718Ser)
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
NM_024422.6(DSC2):c.2162del (p.Thr721fs)
|
rs1986800713
|
|
NM_024422.6(DSC2):c.216A>C (p.Gln72His)
|
rs767293228
|
|
NM_024422.6(DSC2):c.216A>G (p.Gln72=)
|
rs767293228
|
|
NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu)
|
rs876657788
|
|
NM_024422.6(DSC2):c.217A>G (p.Ile73Val)
|
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
NM_024422.6(DSC2):c.2197G>A (p.Ala733Thr)
|
rs730880076
|
|
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)
|
rs886053695
|
|
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
|
|
|
NM_024422.6(DSC2):c.2205G>T (p.Gln735His)
|
rs886053694
|
|
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro)
|
rs1555637438
|
|
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp)
|
rs1380094242
|
|
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe)
|
rs2144846839
|
|
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu)
|
rs2144788073
|
|
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg)
|
rs1986795375
|
|
NM_024422.6(DSC2):c.2237G>A (p.Gly746Glu)
|
|
|
NM_024422.6(DSC2):c.2248G>A (p.Val750Met)
|
rs753775769
|
|
NM_024422.6(DSC2):c.2250+1G>A
|
rs1986794200
|
|
NM_024422.6(DSC2):c.2250+3A>G
|
rs1555637433
|
|
NM_024422.6(DSC2):c.2251-3C>T
|
rs2144784605
|
|
NM_024422.6(DSC2):c.2251-4T>C
|
rs2144784611
|
|
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
|
|
|
NM_024422.6(DSC2):c.2254T>C (p.Ser752Pro)
|
rs1986742221
|
|
NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser)
|
rs727502979
|
|
NM_024422.6(DSC2):c.2267T>C (p.Phe756Ser)
|
rs1986741020
|
|
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
|
|
|
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser)
|
rs1331111206
|
|
NM_024422.6(DSC2):c.2285G>A (p.Gly762Asp)
|
|
|
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val)
|
rs1986739683
|
|
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
|
|
|
NM_024422.6(DSC2):c.2303T>C (p.Val768Ala)
|
|
|
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
|
|
|
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp)
|
rs761544006
|
|
NM_024422.6(DSC2):c.230G>T (p.Gly77Val)
|
rs761544006
|
|
NM_024422.6(DSC2):c.2312C>A (p.Thr771Asn)
|
rs2144784219
|
|
NM_024422.6(DSC2):c.2312C>T (p.Thr771Ile)
|
|
|
NM_024422.6(DSC2):c.2318G>T (p.Gly773Val)
|
rs749174176
|
|
NM_024422.6(DSC2):c.2319A>T (p.Gly773=)
|
rs1986736902
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
|
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.2367A>T (p.Gly789=)
|
rs886053693
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
NM_024422.6(DSC2):c.236T>G (p.Val79Gly)
|
rs886038828
|
|
NM_024422.6(DSC2):c.2371C>A (p.His791Asn)
|
rs1789052
|
|
NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter)
|
rs1364738194
|
|
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
|
|
|
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
|
|
|
NM_024422.6(DSC2):c.2379del (p.Ser794fs)
|
rs2144783901
|
|
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
|
|
|
NM_024422.6(DSC2):c.2384A>T (p.Glu795Val)
|
rs1303375887
|
|
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
|
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)
|
rs1215462499
|
|
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
|
|
|
NM_024422.6(DSC2):c.2412C>A (p.His804Gln)
|
rs1986728077
|
|
NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr)
|
|
|
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr)
|
rs1402474064
|
|
NM_024422.6(DSC2):c.2438A>C (p.His813Pro)
|
rs766881629
|
|
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
|
|
|
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly)
|
rs1473364512
|
|
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu)
|
rs762214540
|
|
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr)
|
rs773961399
|
|
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
|
|
|
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys)
|
rs762627642
|
|
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)
|
rs1567971476
|
|
NM_024422.6(DSC2):c.2467dup (p.Tyr823fs)
|
|
|
NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys)
|
|
|
NM_024422.6(DSC2):c.2487del (p.Phe829fs)
|
rs794728073
|
|
NM_024422.6(DSC2):c.248A>G (p.Asn83Ser)
|
|
|
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly)
|
rs142410803
|
|
NM_024422.6(DSC2):c.2508+1G>A
|
|
|
NM_024422.6(DSC2):c.2508+6T>C
|
|
|
NM_024422.6(DSC2):c.2509-111_2509-110del
|
rs786205428
|
|
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)
|
rs2144781456
|
|
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr)
|
rs2144781440
|
|
NM_024422.6(DSC2):c.2529A>C (p.Gln843His)
|
rs2144781418
|
|
NM_024422.6(DSC2):c.2530G>C (p.Asp844His)
|
rs2144781408
|
|
NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser)
|
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly)
|
rs2144781303
|
|
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
|
|
|
NM_024422.6(DSC2):c.2553del (p.Asp852fs)
|
rs1374904618
|
|
NM_024422.6(DSC2):c.2569T>C (p.Tyr857His)
|
rs747396159
|
|
NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys)
|
rs1986692806
|
|
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
|
|
|
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs)
|
rs2144781196
|
|
NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter)
|
rs767866098
|
|
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg)
|
rs1114167344
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)
|
rs1986691422
|
|
NM_024422.6(DSC2):c.2588G>T (p.Gly863Val)
|
|
|
NM_024422.6(DSC2):c.2593G>A (p.Val865Met)
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs)
|
rs2144781031
|
|
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
|
|
|
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)
|
rs1986689119
|
|
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
|
|
|
NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys)
|
rs1395671324
|
|
NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly)
|
rs1986688160
|
|
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
|
|
|
NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg)
|
|
|
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu)
|
rs1004351611
|
|
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)
|
rs756886183
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
|
|
|
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)
|
rs1352394486
|
|
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp)
|
rs748675400
|
|
NM_024422.6(DSC2):c.2666C>A (p.Pro889His)
|
rs2144780689
|
|
NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg)
|
rs2144780681
|
|
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)
|
rs1060502988
|
|
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)
|
rs1986685195
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
|
|
|
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
|
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
NM_024422.6(DSC2):c.275G>T (p.Arg92Ile)
|
|
|
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
|
|
|
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
|
|
|
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
|
|
|
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala)
|
rs1372970572
|
|
NM_024422.6(DSC2):c.306G>C (p.Glu102Asp)
|
|
|
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys)
|
rs1484070582
|
|
NM_024422.6(DSC2):c.310C>A (p.Gln104Lys)
|
|
|
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu)
|
rs1987621652
|
|
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
|
|
|
NM_024422.6(DSC2):c.322A>G (p.Lys108Glu)
|
|
|
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
|
|
|
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
|
|
|
NM_024422.6(DSC2):c.331G>C (p.Val111Leu)
|
rs1987620497
|
|
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
|
|
|
NM_024422.6(DSC2):c.338del (p.Leu113fs)
|
|
|
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu)
|
rs1987619959
|
|
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
|
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
NM_024422.6(DSC2):c.355-9T>A
|
|
|
NM_024422.6(DSC2):c.355G>A (p.Val119Ile)
|
rs2144843633
|
|
NM_024422.6(DSC2):c.356T>A (p.Val119Asp)
|
rs794728074
|
|
NM_024422.6(DSC2):c.358C>A (p.Leu120Ile)
|
|
|
NM_024422.6(DSC2):c.367A>G (p.Arg123Gly)
|
rs1987583524
|
|
NM_024422.6(DSC2):c.367del (p.Arg123fs)
|
rs2144843571
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
NM_024422.6(DSC2):c.374C>A (p.Thr125Asn)
|
rs1987582538
|
|
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
|
|
|
NM_024422.6(DSC2):c.393G>T (p.Arg131Ser)
|
rs987038341
|
|
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro)
|
rs200218585
|
|
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
|
|
|
NM_024422.6(DSC2):c.412G>T (p.Ala138Ser)
|
rs1405349273
|
|
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
|
|
|
NM_024422.6(DSC2):c.415C>G (p.Pro139Ala)
|
|
|
NM_024422.6(DSC2):c.425G>A (p.Cys142Tyr)
|
rs1478081073
|
|
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
|
|
|
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu)
|
rs769576778
|
|
NM_024422.6(DSC2):c.431T>C (p.Met144Thr)
|
rs794728065
|
|
NM_024422.6(DSC2):c.437A>G (p.Glu146Gly)
|
rs575632427
|
|
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
|
|
|
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser)
|
|
|
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
|
|
|
NM_024422.6(DSC2):c.449G>A (p.Gly150Asp)
|
rs1480345392
|
|
NM_024422.6(DSC2):c.451C>A (p.Pro151Thr)
|
|
|
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe)
|
rs2144843013
|
|
NM_024422.6(DSC2):c.474+5C>A
|
rs397517400
|
|
NM_024422.6(DSC2):c.474+5C>G
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
NM_024422.6(DSC2):c.475-5T>C
|
rs1555639919
|
|
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys)
|
rs758759298
|
|
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
|
rs1987523408
|
|
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
|
|
|
NM_024422.6(DSC2):c.517A>G (p.Ile173Val)
|
rs766855728
|
|
NM_024422.6(DSC2):c.529G>A (p.Gly177Arg)
|
rs1567981666
|
|
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
|
|
|
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly)
|
rs760185784
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NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
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NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
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rs554713834
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NM_024422.6(DSC2):c.559T>C (p.Tyr187His)
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rs1251921612
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NM_024422.6(DSC2):c.562G>A (p.Val188Met)
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NM_024422.6(DSC2):c.565G>A (p.Glu189Lys)
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rs267605148
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NM_024422.6(DSC2):c.572A>G (p.Asp191Gly)
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rs2144838855
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NM_024422.6(DSC2):c.574A>C (p.Thr192Pro)
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rs876657789
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NM_024422.6(DSC2):c.575C>T (p.Thr192Ile)
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rs2144838831
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NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del)
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rs767081975
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NM_024422.6(DSC2):c.584T>C (p.Leu195Ser)
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rs876657787
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NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)
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rs912124448
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NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
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rs1987518239
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NM_024422.6(DSC2):c.590G>T (p.Cys197Phe)
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rs2144838763
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NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
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rs142331975
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NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
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NM_024422.6(DSC2):c.619G>A (p.Glu207Lys)
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rs200634448
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NM_024422.6(DSC2):c.621A>C (p.Glu207Asp)
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rs2144838603
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NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
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NM_024422.6(DSC2):c.631-1G>A
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NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
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NM_024422.6(DSC2):c.635T>C (p.Ile212Thr)
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rs1598587612
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NM_024422.6(DSC2):c.637G>A (p.Ala213Thr)
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rs1987456031
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NM_024422.6(DSC2):c.643G>A (p.Ala215Thr)
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rs1435574320
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NM_024422.6(DSC2):c.647C>T (p.Thr216Ile)
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rs780448272
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NM_024422.6(DSC2):c.656A>T (p.Asp219Val)
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rs1047981208
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NM_024422.6(DSC2):c.660G>T (p.Gly220=)
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NM_024422.6(DSC2):c.664A>G (p.Thr222Ala)
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rs751014965
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NM_024422.6(DSC2):c.665C>T (p.Thr222Ile)
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rs1987453864
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NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
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rs762722282
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NM_024422.6(DSC2):c.676C>T (p.Pro226Ser)
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rs1987453023
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NM_024422.6(DSC2):c.687AAT[1] (p.Ile231del)
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rs2144833873
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NM_024422.6(DSC2):c.696A>G (p.Lys232=)
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NM_024422.6(DSC2):c.70-18dup
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rs572309510
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NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
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NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)
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rs2144833773
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NM_024422.6(DSC2):c.715A>G (p.Asn239Asp)
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rs774551962
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NM_024422.6(DSC2):c.715_728dup (p.Phe243fs)
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rs759922677
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NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
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NM_024422.6(DSC2):c.71T>A (p.Ile24Asn)
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rs2144850570
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NM_024422.6(DSC2):c.721C>G (p.Pro241Ala)
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rs727505169
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NM_024422.6(DSC2):c.721C>T (p.Pro241Ser)
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rs727505169
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NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
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rs373201722
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NM_024422.6(DSC2):c.737A>G (p.Glu246Gly)
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rs1057524741
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NM_024422.6(DSC2):c.739A>G (p.Thr247Ala)
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rs1567980622
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NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
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rs776784065
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NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)
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rs1987447561
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NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
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NM_024422.6(DSC2):c.748T>G (p.Phe250Val)
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rs111556656
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NM_024422.6(DSC2):c.752C>A (p.Thr251Lys)
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rs1987446781
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NM_024422.6(DSC2):c.754A>G (p.Ile252Val)
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rs751996698
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NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
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NM_024422.6(DSC2):c.76A>T (p.Ile26Leu)
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NM_024422.6(DSC2):c.772G>A (p.Val258Met)
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rs1060502992
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NM_024422.6(DSC2):c.774G>C (p.Val258=)
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NM_024422.6(DSC2):c.775+3_775+6del
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NM_024422.6(DSC2):c.776-13dup
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rs1987414584
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NM_024422.6(DSC2):c.776-3T>C
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rs752192642
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NM_024422.6(DSC2):c.776G>A (p.Gly259Asp)
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rs1335645459
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NM_024422.6(DSC2):c.778A>G (p.Thr260Ala)
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rs2144830965
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NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
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NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
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NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
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NM_024422.6(DSC2):c.797G>A (p.Cys266Tyr)
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rs1987413579
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NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
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rs966660258
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NM_024422.6(DSC2):c.800C>G (p.Ala267Gly)
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rs2144830884
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NM_024422.6(DSC2):c.802A>C (p.Thr268Pro)
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rs201015785
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NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
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NM_024422.6(DSC2):c.812A>T (p.Asp271Val)
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rs1987412406
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NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
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NM_024422.6(DSC2):c.824C>A (p.Thr275Lys)
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rs397517404
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NM_024422.6(DSC2):c.826A>G (p.Met276Val)
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NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
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NM_024422.6(DSC2):c.836G>T (p.Arg279Leu)
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NM_024422.6(DSC2):c.83C>A (p.Ala28Asp)
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NM_024422.6(DSC2):c.841A>C (p.Lys281Gln)
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rs373697870
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NM_024422.6(DSC2):c.844T>C (p.Tyr282His)
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rs397517405
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NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
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NM_024422.6(DSC2):c.848C>G (p.Ser283Cys)
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rs2144830674
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NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
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NM_024422.6(DSC2):c.860A>C (p.Gln287Pro)
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NM_024422.6(DSC2):c.860A>G (p.Gln287Arg)
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rs748657811
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NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu)
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rs1555639508
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NM_024422.6(DSC2):c.863T>G (p.Val288Gly)
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NM_024422.6(DSC2):c.865C>G (p.Pro289Ala)
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rs200802591
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NM_024422.6(DSC2):c.869C>A (p.Pro290Gln)
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rs753579789
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NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
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NM_024422.6(DSC2):c.875C>A (p.Pro292His)
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NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
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NM_024422.6(DSC2):c.88G>A (p.Asp30Asn)
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rs1987673824
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NM_024422.6(DSC2):c.895C>T (p.Pro299Ser)
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rs1987406167
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NM_024422.6(DSC2):c.902C>T (p.Thr301Ile)
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rs1213134766
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NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
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NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
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NM_024422.6(DSC2):c.932T>C (p.Leu311Pro)
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NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
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NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
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NM_024422.6(DSC2):c.942+3A>G
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NM_024422.6(DSC2):c.942+4A>T
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rs2144830120
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NM_024422.6(DSC2):c.942+5C>T
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rs2144830111
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NM_024422.6(DSC2):c.942+6A>G
|
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NM_024422.6(DSC2):c.942G>A (p.Glu314=)
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NM_024422.6(DSC2):c.943-3C>T
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NM_024422.6(DSC2):c.943T>C (p.Leu315=)
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rs2144821693
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NM_024422.6(DSC2):c.946A>T (p.Ile316Phe)
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rs1233598092
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NM_024422.6(DSC2):c.947T>C (p.Ile316Thr)
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NM_024422.6(DSC2):c.951_952delinsTT (p.Lys318Ter)
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NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)
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rs1481724064
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NM_024422.6(DSC2):c.959del (p.Gln320fs)
|
rs1987282253
|
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NM_024422.6(DSC2):c.960G>C (p.Gln320His)
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NM_024422.6(DSC2):c.968T>C (p.Ile323Thr)
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NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
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NM_024422.6(DSC2):c.983T>A (p.Met328Lys)
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rs1987280810
|
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NM_024422.6(DSC2):c.985G>A (p.Asp329Asn)
|
rs1987280682
|
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NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)
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NM_024422.6(DSC2):c.994T>C (p.Tyr332His)
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rs794728067
|
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