NM_207122.2(EXT2):c.1305+254G>C
|
rs12791572
|
0.03058
|
NM_207122.2(EXT2):c.-31+474G>A
|
rs112082531
|
0.02206
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_207122.2(EXT2):c.-30-80A>C
|
rs75844681
|
0.01471
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_207122.2(EXT2):c.-31+657G>A
|
rs74980806
|
0.01266
|
NM_207122.2(EXT2):c.940-203A>G
|
rs111293320
|
0.01038
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_207122.2(EXT2):c.1936-179C>T
|
rs117782883
|
0.00722
|
NM_207122.2(EXT2):c.*56G>A
|
rs77554103
|
0.00371
|
NM_207122.2(EXT2):c.*101G>C
|
rs117755165
|
0.00332
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_207122.2(EXT2):c.358G>A (p.Val120Ile)
|
rs115948531
|
0.00070
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_207122.2(EXT2):c.1005A>G (p.Leu335=)
|
rs141977888
|
0.00058
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
NM_207122.2(EXT2):c.744-10T>G
|
rs200943294
|
0.00036
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_207122.2(EXT2):c.1806+11G>A
|
rs372517964
|
0.00029
|
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
|
rs113846849
|
0.00029
|
NM_207122.2(EXT2):c.843A>G (p.Leu281=)
|
rs111320923
|
0.00027
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.939+19C>G
|
rs370017441
|
0.00025
|
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
|
rs145884580
|
0.00024
|
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
|
rs567445428
|
0.00022
|
NM_207122.2(EXT2):c.2013G>A (p.Val671=)
|
rs371019537
|
0.00020
|
NM_207122.2(EXT2):c.896G>A (p.Arg299His)
|
rs76901081
|
0.00020
|
NM_207122.2(EXT2):c.1554G>A (p.Lys518=)
|
rs144238557
|
0.00018
|
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
|
rs146098187
|
0.00014
|
NM_207122.2(EXT2):c.*129C>G
|
rs141864253
|
0.00011
|
NM_207122.2(EXT2):c.*139C>G
|
rs191451519
|
0.00011
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
|
rs151228794
|
0.00006
|
NM_207122.2(EXT2):c.357C>T (p.Gly119=)
|
rs753325648
|
0.00006
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.588C>T (p.Pro196=)
|
rs200009614
|
0.00005
|
NM_207122.2(EXT2):c.8C>T (p.Ala3Val)
|
rs201185639
|
0.00005
|
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
|
rs145878394
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.849C>T (p.Leu283=)
|
rs749093709
|
0.00004
|
NM_207122.2(EXT2):c.1023G>A (p.Pro341=)
|
rs757323768
|
0.00003
|
NM_207122.2(EXT2):c.1080-6C>T
|
rs752180821
|
0.00003
|
NM_207122.2(EXT2):c.1194G>A (p.Ala398=)
|
rs1011914306
|
0.00003
|
NM_207122.2(EXT2):c.1935+11C>G
|
rs764143899
|
0.00003
|
NM_207122.2(EXT2):c.2052C>T (p.Phe684=)
|
rs746317053
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.699T>C (p.Tyr233=)
|
rs1319747883
|
0.00003
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1587C>T (p.Ile529=)
|
rs765251957
|
0.00002
|
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys)
|
rs1804679
|
0.00002
|
NM_207122.2(EXT2):c.2018+17C>T
|
rs375554352
|
0.00002
|
NM_207122.2(EXT2):c.743+10A>C
|
rs762753229
|
0.00002
|
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
|
rs747830835
|
0.00002
|
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
|
rs766467969
|
0.00001
|
NM_207122.2(EXT2):c.1173+18G>A
|
rs760436963
|
0.00001
|
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly)
|
rs769052712
|
0.00001
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
|
rs914948841
|
0.00001
|
NM_207122.2(EXT2):c.1305+12C>G
|
rs767006996
|
0.00001
|
NM_207122.2(EXT2):c.1518G>T (p.Arg506=)
|
rs747230848
|
0.00001
|
NM_207122.2(EXT2):c.156C>G (p.Ser52=)
|
rs766597724
|
0.00001
|
NM_207122.2(EXT2):c.1974A>G (p.Thr658=)
|
rs1319948823
|
0.00001
|
NM_207122.2(EXT2):c.211C>T (p.Leu71=)
|
rs766800368
|
0.00001
|
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
|
rs575302404
|
0.00001
|
NM_207122.2(EXT2):c.219C>T (p.Ala73=)
|
rs774620075
|
0.00001
|
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
|
rs559280035
|
0.00001
|
NM_207122.2(EXT2):c.252T>C (p.Ser84=)
|
rs1463030663
|
0.00001
|
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
|
rs1386417457
|
0.00001
|
NM_207122.2(EXT2):c.408C>T (p.Ala136=)
|
rs777178095
|
0.00001
|
NM_207122.2(EXT2):c.537-19A>G
|
rs764148237
|
0.00001
|
NM_207122.2(EXT2):c.678C>T (p.Tyr226=)
|
rs1406801697
|
0.00001
|
NM_207122.2(EXT2):c.744-11T>A
|
rs754484381
|
0.00001
|
NM_207122.2(EXT2):c.753A>G (p.Gln251=)
|
rs1310756667
|
0.00001
|
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
|
rs760218623
|
0.00001
|
NM_207122.2(EXT2):c.940-9T>C
|
rs374555467
|
0.00001
|
NM_207122.2(EXT2):c.9G>A (p.Ala3=)
|
rs774142487
|
0.00001
|
NM_207122.2(EXT2):c.*10T>C
|
|
|
NM_207122.2(EXT2):c.*4G>A
|
|
|
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
|
|
|
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
|
|
|
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=)
|
rs2135020895
|
|
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
|
|
|
NM_207122.2(EXT2):c.1079+13T>C
|
|
|
NM_207122.2(EXT2):c.1079+17A>G
|
|
|
NM_207122.2(EXT2):c.1080-14G>A
|
|
|
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
|
|
|
NM_207122.2(EXT2):c.111C>T (p.Leu37=)
|
|
|
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
|
|
|
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
|
|
|
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
|
rs2135029434
|
|
NM_207122.2(EXT2):c.1173+14171G>T
|
|
|
NM_207122.2(EXT2):c.1173+17T>A
|
|
|
NM_207122.2(EXT2):c.1173+8G>A
|
|
|
NM_207122.2(EXT2):c.1173+9C>T
|
|
|
NM_207122.2(EXT2):c.1174-14T>A
|
|
|
NM_207122.2(EXT2):c.1174-19A>G
|
|
|
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
|
rs2134965644
|
|
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
|
|
|
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
|
rs1315721028
|
|
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
|
|
|
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
|
|
|
NM_207122.2(EXT2):c.1305+14A>G
|
|
|
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
|
|
|
NM_207122.2(EXT2):c.1496-17C>A
|
rs1370105753
|
|
NM_207122.2(EXT2):c.1496-204_1496-195del
|
|
|
NM_207122.2(EXT2):c.1496-209del
|
|
|
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
|
|
|
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
|
|
|
NM_207122.2(EXT2):c.1575T>C (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
|
|
|
NM_207122.2(EXT2):c.1662+17_1662+18del
|
|
|
NM_207122.2(EXT2):c.1662+18A>G
|
|
|
NM_207122.2(EXT2):c.1662+20T>C
|
|
|
NM_207122.2(EXT2):c.1663-14G>A
|
|
|
NM_207122.2(EXT2):c.1669C>A (p.Arg557=)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1683C>T (p.Asp561=)
|
rs1955909250
|
|
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
|
|
|
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
|
|
|
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
|
rs772721212
|
|
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
|
|
|
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
|
rs2135259732
|
|
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
|
|
|
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
|
|
|
NM_207122.2(EXT2):c.1803C>T (p.His601=)
|
rs1590666591
|
|
NM_207122.2(EXT2):c.1806+16C>A
|
|
|
NM_207122.2(EXT2):c.1806+9G>T
|
rs2135260004
|
|
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
|
|
|
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
|
|
|
NM_207122.2(EXT2):c.18G>A (p.Lys6=)
|
rs375300731
|
|
NM_207122.2(EXT2):c.1900C>T (p.Leu634=)
|
rs1955932950
|
|
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
|
|
|
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
|
|
|
NM_207122.2(EXT2):c.192T>C (p.Arg64=)
|
rs2134966282
|
|
NM_207122.2(EXT2):c.1935+19C>T
|
|
|
NM_207122.2(EXT2):c.1936-10C>T
|
|
|
NM_207122.2(EXT2):c.1936-12C>T
|
|
|
NM_207122.2(EXT2):c.1936-134GT[10]
|
rs3832748
|
|
NM_207122.2(EXT2):c.1936-14T>C
|
rs2135267767
|
|
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.2018+17C>A
|
|
|
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
|
|
|
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
|
|
|
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
|
|
|
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
|
|
|
NM_207122.2(EXT2):c.2130G>A (p.Lys710=)
|
rs2135284224
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
|
rs2134967175
|
|
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
|
|
|
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
|
|
|
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
|
|
|
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
|
|
|
NM_207122.2(EXT2):c.404T>C (p.Met135Thr)
|
rs2134967784
|
|
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
|
|
|
NM_207122.2(EXT2):c.423C>T (p.Asp141=)
|
rs199916419
|
|
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
|
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
|
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
|
|
|
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
|
|
|
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
|
|
|
NM_207122.2(EXT2):c.536+10A>T
|
rs748432706
|
|
NM_207122.2(EXT2):c.536+14A>G
|
|
|
NM_207122.2(EXT2):c.536+15T>A
|
|
|
NM_207122.2(EXT2):c.536+17C>A
|
|
|
NM_207122.2(EXT2):c.536+19G>C
|
|
|
NM_207122.2(EXT2):c.536+20C>G
|
|
|
NM_207122.2(EXT2):c.536+7C>G
|
rs755324495
|
|
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu)
|
rs563383543
|
|
NM_207122.2(EXT2):c.558C>T (p.His186=)
|
|
|
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
|
|
|
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
|
|
|
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
|
|
|
NM_207122.2(EXT2):c.626+14T>C
|
|
|
NM_207122.2(EXT2):c.626+19G>A
|
rs370903897
|
|
NM_207122.2(EXT2):c.626+262C>G
|
rs76685253
|
|
NM_207122.2(EXT2):c.626+6_626+8del
|
|
|
NM_207122.2(EXT2):c.627-18A>G
|
|
|
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
|
|
|
NM_207122.2(EXT2):c.669G>A (p.Arg223=)
|
rs141410374
|
|
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
|
rs2134984902
|
|
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
|
|
|
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
|
|
|
NM_207122.2(EXT2):c.744-12T>C
|
|
|
NM_207122.2(EXT2):c.744-20C>T
|
rs2135014483
|
|
NM_207122.2(EXT2):c.744-8C>T
|
|
|
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
|
|
|
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
|
|
|
NM_207122.2(EXT2):c.84C>T (p.Thr28=)
|
rs1954077511
|
|
NM_207122.2(EXT2):c.939+11T>C
|
|
|
NM_207122.2(EXT2):c.939+14A>C
|
|
|
NM_207122.2(EXT2):c.940-13del
|
rs765515424
|
|
NM_207122.2(EXT2):c.940-14T>G
|
|
|
NM_207122.2(EXT2):c.940-15T>C
|
|
|
NM_207122.2(EXT2):c.940-79A>C
|
|
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NM_207122.2(EXT2):c.942G>A (p.Glu314=)
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NM_207122.2(EXT2):c.951C>T (p.Phe317=)
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rs2135020214
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NM_207122.2(EXT2):c.969A>G (p.Gly323=)
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