NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.2:c.6060_6061insALU
|
|
|
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)
|
rs1249913357
|
|
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)
|
rs778856526
|
|
NM_004415.4(DSP):c.1162del (p.Thr388fs)
|
rs1554106742
|
|
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
|
|
|
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1282dup (p.Ile428fs)
|
rs1561687796
|
|
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
|
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)
|
rs1554107097
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
|
|
|
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)
|
rs2113684096
|
|
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)
|
rs768521444
|
|
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter)
|
rs1554107624
|
|
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
|
|
|
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
|
|
|
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)
|
rs2113686447
|
|
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
|
|
|
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer)
|
rs1759240256
|
|
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
|
|
|
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
|
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.2842del (p.Gln948fs)
|
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs)
|
rs1561696970
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
|
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)
|
rs1759357763
|
|
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
|
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
|
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)
|
rs2113692628
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
|
|
|
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
|
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs)
|
rs1759385935
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs)
|
rs1554108280
|
|
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs)
|
rs886039009
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
|
rs1227662860
|
|
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)
|
rs2113659637
|
|
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
|
|
|
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)
|
rs1259613160
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)
|
rs1060500610
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
|
|
|
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
|
|
|
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
|
|
|
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
|
|
|
NM_004415.4(DSP):c.557_558del (p.His186fs)
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)
|
rs1060500607
|
|
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)
|
rs1561701401
|
|
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
|
|
|
NM_004415.4(DSP):c.5987del (p.Lys1996fs)
|
rs1759510200
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
|
|
|
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
|
|
|
NM_004415.4(DSP):c.6318del (p.Val2107fs)
|
rs2113699991
|
|
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
|
|
|
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)
|
rs1554108859
|
|
NM_004415.4(DSP):c.646dup (p.Gln216fs)
|
rs2113665124
|
|
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.6516del (p.Phe2172fs)
|
|
|
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
|
|
|
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)
|
rs121912991
|
|