NM_006364.4(SEC23A):c.1668A>G (p.Lys556=)
|
rs11556216
|
0.27106
|
NM_006364.4(SEC23A):c.927T>C (p.Pro309=)
|
rs17108797
|
0.04778
|
NM_006364.4(SEC23A):c.1092C>T (p.Pro364=)
|
rs77375580
|
0.00664
|
NM_006364.4(SEC23A):c.2142+3_2142+4dup
|
rs532535708
|
0.00197
|
NM_006364.4(SEC23A):c.1900-10T>C
|
rs189849576
|
0.00144
|
NM_006364.4(SEC23A):c.500T>C (p.Ile167Thr)
|
rs144765020
|
0.00086
|
NM_006364.4(SEC23A):c.1047G>A (p.Ala349=)
|
rs143126019
|
0.00054
|
NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)
|
rs138568622
|
0.00034
|
NM_006364.4(SEC23A):c.612G>A (p.Leu204=)
|
rs143358320
|
0.00034
|
NM_006364.4(SEC23A):c.1906C>T (p.Leu636Phe)
|
rs144656181
|
0.00013
|
NM_006364.4(SEC23A):c.1875G>A (p.Ala625=)
|
rs751758051
|
0.00011
|
NM_006364.4(SEC23A):c.2038A>G (p.Asn680Asp)
|
rs200050093
|
0.00010
|
NM_006364.4(SEC23A):c.255C>T (p.Cys85=)
|
rs776974292
|
0.00004
|
NM_006364.4(SEC23A):c.507T>C (p.Phe169=)
|
rs754596322
|
0.00002
|
NM_006364.4(SEC23A):c.1460A>G (p.His487Arg)
|
rs770112771
|
0.00001
|
NM_006364.4(SEC23A):c.1495A>G (p.Ile499Val)
|
rs767175510
|
0.00001
|
NM_006364.4(SEC23A):c.1626G>A (p.Val542=)
|
rs1288174701
|
0.00001
|
NM_006364.4(SEC23A):c.1864A>G (p.Ile622Val)
|
rs767767591
|
0.00001
|
NM_006364.4(SEC23A):c.2154C>T (p.Leu718=)
|
rs758424981
|
0.00001
|
NM_006364.4(SEC23A):c.2166C>T (p.Val722=)
|
rs750386277
|
0.00001
|
NM_006364.4(SEC23A):c.2208+6T>A
|
rs1421920689
|
0.00001
|
NM_006364.4(SEC23A):c.360A>C (p.Val120=)
|
rs376431559
|
0.00001
|
NM_006364.4(SEC23A):c.903G>A (p.Val301=)
|
rs1254693441
|
0.00001
|
NM_006364.4(SEC23A):c.995A>G (p.Glu332Gly)
|
rs749846887
|
0.00001
|
NM_006364.4(SEC23A):c.115G>A (p.Ala39Thr)
|
rs2139298560
|
|
NM_006364.4(SEC23A):c.1215G>A (p.Thr405=)
|
rs140246467
|
|
NM_006364.4(SEC23A):c.1228-8T>C
|
|
|
NM_006364.4(SEC23A):c.1274C>G (p.Ser425Ter)
|
|
|
NM_006364.4(SEC23A):c.1293C>T (p.Pro431=)
|
rs2139232007
|
|
NM_006364.4(SEC23A):c.1294T>C (p.Cys432Arg)
|
rs1886605183
|
|
NM_006364.4(SEC23A):c.129A>C (p.Thr43=)
|
rs1182101092
|
|
NM_006364.4(SEC23A):c.1308+18T>A
|
rs2139231944
|
|
NM_006364.4(SEC23A):c.1349_1350inv (p.Gly450Val)
|
|
|
NM_006364.4(SEC23A):c.1427G>A (p.Arg476His)
|
|
|
NM_006364.4(SEC23A):c.1458G>A (p.Gln486=)
|
|
|
NM_006364.4(SEC23A):c.147_155del (p.Asp50_Pro52del)
|
rs1887873306
|
|
NM_006364.4(SEC23A):c.1483C>T (p.Arg495Ter)
|
|
|
NM_006364.4(SEC23A):c.1504A>C (p.Asn502His)
|
|
|
NM_006364.4(SEC23A):c.1694del (p.Pro565fs)
|
|
|
NM_006364.4(SEC23A):c.1718C>A (p.Thr573Asn)
|
rs2139199749
|
|
NM_006364.4(SEC23A):c.1737+20A>G
|
rs1885932388
|
|
NM_006364.4(SEC23A):c.175G>A (p.Val59Ile)
|
rs1887872116
|
|
NM_006364.4(SEC23A):c.1784A>G (p.Asn595Ser)
|
|
|
NM_006364.4(SEC23A):c.178_179del (p.Leu60fs)
|
rs2139298318
|
|
NM_006364.4(SEC23A):c.1900-6C>T
|
|
|
NM_006364.4(SEC23A):c.1987-15T>C
|
|
|
NM_006364.4(SEC23A):c.2208+20C>T
|
|
|
NM_006364.4(SEC23A):c.2209-13dup
|
rs11418467
|
|
NM_006364.4(SEC23A):c.222-16dup
|
rs5808022
|
|
NM_006364.4(SEC23A):c.222-17C>G
|
|
|
NM_006364.4(SEC23A):c.222-17_222-13del
|
|
|
NM_006364.4(SEC23A):c.222-8T>A
|
|
|
NM_006364.4(SEC23A):c.2261del (p.Asp754fs)
|
|
|
NM_006364.4(SEC23A):c.227T>C (p.Val76Ala)
|
|
|
NM_006364.4(SEC23A):c.281T>C (p.Phe94Ser)
|
|
|
NM_006364.4(SEC23A):c.284C>T (p.Pro95Leu)
|
|
|
NM_006364.4(SEC23A):c.371G>T (p.Gly124Val)
|
|
|
NM_006364.4(SEC23A):c.478C>T (p.Pro160Ser)
|
rs1887666757
|
|
NM_006364.4(SEC23A):c.481A>G (p.Thr161Ala)
|
|
|
NM_006364.4(SEC23A):c.487T>G (p.Leu163Val)
|
rs777434049
|
|
NM_006364.4(SEC23A):c.489G>C (p.Leu163Phe)
|
|
|
NM_006364.4(SEC23A):c.516G>C (p.Met172Ile)
|
|
|
NM_006364.4(SEC23A):c.519T>G (p.Val173=)
|
|
|
NM_006364.4(SEC23A):c.539G>A (p.Cys180Tyr)
|
|
|
NM_006364.4(SEC23A):c.545G>A (p.Gly182Asp)
|
rs765405316
|
|
NM_006364.4(SEC23A):c.579A>G (p.Lys193=)
|
rs774323212
|
|
NM_006364.4(SEC23A):c.604-8C>G
|
|
|
NM_006364.4(SEC23A):c.629C>T (p.Pro210Leu)
|
|
|
NM_006364.4(SEC23A):c.631C>A (p.Leu211Ile)
|
rs8018720
|
|
NM_006364.4(SEC23A):c.631C>G (p.Leu211Val)
|
rs8018720
|
|
NM_006364.4(SEC23A):c.661C>G (p.Gln221Glu)
|
|
|
NM_006364.4(SEC23A):c.674C>T (p.Pro225Leu)
|
|
|
NM_006364.4(SEC23A):c.745C>G (p.Arg249Gly)
|
|
|
NM_006364.4(SEC23A):c.804T>C (p.Leu268=)
|
rs549066823
|
|
NM_006364.4(SEC23A):c.808A>G (p.Ile270Val)
|
|
|
NM_006364.4(SEC23A):c.829-11T>C
|
|
|
NM_006364.4(SEC23A):c.82C>T (p.Arg28Ter)
|
|
|
NM_006364.4(SEC23A):c.877C>G (p.Pro293Ala)
|
|
|
NM_006364.4(SEC23A):c.948T>C (p.Ile316=)
|
|
|