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.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.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.4(DSP):c.1045-1G>C
|
|
|
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.1420-1G>T
|
rs1060500609
|
|
NM_004415.4(DSP):c.1420-2A>G
|
|
|
NM_004415.4(DSP):c.1574+1G>A
|
rs1758971797
|
|
NM_004415.4(DSP):c.1574+1G>C
|
rs1758971797
|
|
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.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)
|
rs606231294
|
|
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.214C>T (p.Gln72Ter)
|
rs397516923
|
|
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.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.2877+1G>A
|
rs2113687794
|
|
NM_004415.4(DSP):c.2877+2T>C
|
rs2113687807
|
|
NM_004415.4(DSP):c.2920del (p.Thr974fs)
|
rs727505260
|
|
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro)
|
rs397516929
|
|
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.3492_3498del (p.Lys1165fs)
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
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.3829C>T (p.Gln1277Ter)
|
rs397516933
|
|
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
|
|
|
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.4336C>T (p.Gln1446Ter)
|
|
|
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.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.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
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.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
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.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
|
|
|
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.778-2A>G
|
rs113726158
|
|
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)
|
rs1163244913
|
|
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter)
|
rs2113704410
|
|
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
|
|