NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004415.4(DSP):c.6310del (p.Thr2104fs)
|
rs730880092
|
0.00003
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs)
|
rs1561701721
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NC_000006.11:g.(?_7552967)_(7579627_?)del
|
|
|
NC_000006.11:g.(?_7565582)_(7568149_?)del
|
|
|
NC_000006.11:g.(?_7576220)_(7581055_?)del
|
|
|
NM_001008844.3(DSP):c.3582+1242dup
|
rs727503003
|
|
NM_004415.2(DSP):c.2131_2132del
|
rs587782927
|
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.4(DSP):c.1045-1G>C
|
|
|
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)
|
rs1561686893
|
|
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
|
|
|
NM_004415.4(DSP):c.1140+2T>G
|
rs869025398
|
|
NM_004415.4(DSP):c.1141-1G>A
|
rs2113673067
|
|
NM_004415.4(DSP):c.1141-2A>G
|
rs794728111
|
|
NM_004415.4(DSP):c.1141-2A>T
|
rs794728111
|
|
NM_004415.4(DSP):c.1267-2A>G
|
rs1554106830
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)
|
rs761380979
|
|
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)
|
rs193922668
|
|
NM_004415.4(DSP):c.1420-1G>T
|
rs1060500609
|
|
NM_004415.4(DSP):c.1420-2A>G
|
|
|
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe)
|
rs1240326550
|
|
NM_004415.4(DSP):c.1574+1G>A
|
rs1758971797
|
|
NM_004415.4(DSP):c.1574+1G>C
|
rs1758971797
|
|
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter)
|
rs727504498
|
|
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)
|
rs397516919
|
|
NM_004415.4(DSP):c.169_170+13del
|
rs2113629234
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.1701+2T>C
|
|
|
NM_004415.4(DSP):c.1702-1G>T
|
|
|
NM_004415.4(DSP):c.171T>A (p.Cys57Ter)
|
rs1758487010
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)
|
rs606231294
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
NM_004415.4(DSP):c.1853A>C (p.His618Pro)
|
rs1554107096
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.1903+1G>T
|
|
|
NM_004415.4(DSP):c.1904-2A>G
|
rs2113679702
|
|
NM_004415.4(DSP):c.208_209dup (p.Ile71fs)
|
rs727502993
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.2131-3_2131del
|
|
|
NM_004415.4(DSP):c.214C>T (p.Gln72Ter)
|
rs397516923
|
|
NM_004415.4(DSP):c.2200del (p.Arg734fs)
|
rs2113683177
|
|
NM_004415.4(DSP):c.226C>T (p.Gln76Ter)
|
rs1554105614
|
|
NM_004415.4(DSP):c.2297+2T>C
|
rs796218194
|
|
NM_004415.4(DSP):c.2298-1G>C
|
rs1417627909
|
|
NM_004415.4(DSP):c.2298-2A>C
|
rs1759176299
|
|
NM_004415.4(DSP):c.2436+1G>A
|
rs2113684305
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.2614A>T (p.Lys872Ter)
|
|
|
NM_004415.4(DSP):c.273+1G>A
|
rs794728106
|
|
NM_004415.4(DSP):c.273del (p.Glu92fs)
|
rs794728136
|
|
NM_004415.4(DSP):c.2793+1G>T
|
rs1554107741
|
|
NM_004415.4(DSP):c.2794-1G>A
|
rs1759258675
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.2848dup (p.Ile950fs)
|
rs397516927
|
|
NM_004415.4(DSP):c.2877+1G>A
|
rs2113687794
|
|
NM_004415.4(DSP):c.2877+2T>C
|
rs2113687807
|
|
NM_004415.4(DSP):c.2907del (p.Ser970fs)
|
rs2113688929
|
|
NM_004415.4(DSP):c.2920del (p.Thr974fs)
|
rs727505260
|
|
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro)
|
rs397516929
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)
|
rs397516932
|
|
NM_004415.4(DSP):c.3165del (p.Asn1055fs)
|
rs2113691213
|
|
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
|
|
|
NM_004415.4(DSP):c.3434del (p.Ala1145fs)
|
rs1581815603
|
|
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)
|
rs1581815654
|
|
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
|
|
|
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)
|
rs148894066
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)
|
rs1759359916
|
|
NM_004415.4(DSP):c.3617del (p.Asn1205_Leu1206insTer)
|
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter)
|
rs1581816089
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)
|
rs397516933
|
|
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
|
|
|
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)
|
rs879255521
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)
|
rs140474226
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.422+1G>A
|
|
|
NM_004415.4(DSP):c.422+2T>G
|
rs2113657846
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
NM_004415.4(DSP):c.423-2A>G
|
rs2113659544
|
|
NM_004415.4(DSP):c.4332dup (p.Gln1445fs)
|
rs1561698714
|
|
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
|
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)
|
rs1236464864
|
|
NM_004415.4(DSP):c.4397dup (p.Gln1467fs)
|
rs1581817513
|
|
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
|
|
|
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
|
|
|
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
|
|
|
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)
|
rs2113694673
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile)
|
rs869025392
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)
|
rs727504738
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
NM_004415.4(DSP):c.5051A>G (p.His1684Arg)
|
rs1135401735
|
|
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
|
|
|
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
|
rs1581794029
|
|
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)
|
rs1554108477
|
|
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
|
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.534_535insA (p.Gly179fs)
|
rs397516945
|
|
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs)
|
rs727502994
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5725del (p.Ile1909fs)
|
rs869025399
|
|
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)
|
rs2113698710
|
|
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
|
|
|
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
|
|
|
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)
|
rs869025395
|
|
NM_004415.4(DSP):c.597+1G>A
|
rs2113660108
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs)
|
rs1759527886
|
|
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs)
|
rs1759529582
|
|
NM_004415.4(DSP):c.6393del (p.Gly2133fs)
|
rs730880093
|
|
NM_004415.4(DSP):c.6451dup (p.Arg2151fs)
|
rs1759533568
|
|
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs)
|
rs1561702549
|
|
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
|
|
|
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs)
|
rs2113701305
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
|
rs2113701867
|
|
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
|
|
|
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
|
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
|
|
|
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
|
|
|
NM_004415.4(DSP):c.777+2T>C
|
|
|
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)
|
rs763560697
|
|
NM_004415.4(DSP):c.778-2A>G
|
rs113726158
|
|
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)
|
rs1163244913
|
|
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
|
|
|
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter)
|
rs2113703930
|
|
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
|
|
|
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)
|
|
|
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter)
|
rs2113704410
|
|
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)
|
rs397516973
|
|
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
|
|
|
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)
|
rs1238227166
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004415.4(DSP):c.940-2del
|
rs2113670901
|
|
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
|
rs1057522287
|
|