NM_001395413.1(POR):c.1446T>C (p.Ala482=)
|
rs2228104
|
0.86727
|
NM_001395413.1(POR):c.1058-13C>G
|
rs4732516
|
0.84641
|
NM_001395413.1(POR):c.1390-34T>C
|
rs2302431
|
0.84626
|
NM_001395413.1(POR):c.1390-33G>T
|
rs2302432
|
0.84588
|
NM_001395413.1(POR):c.1239+12C>T
|
rs2286822
|
0.27856
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_001395413.1(POR):c.508-14_508-13del
|
rs72557912
|
0.00363
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
0.00003
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001395413.1(POR):c.*147CTC[1]
|
rs886062444
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1390-34_1390-33delinsCT
|
|
|
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1466T>A (p.Val489Glu)
|
rs28931606
|
|
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg)
|
rs2116630442
|
|
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys)
|
rs121912975
|
|
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)
|
rs786205876
|
|
NM_001395413.1(POR):c.559_571dup (p.Arg191fs)
|
rs786205878
|
|
NM_001395413.1(POR):c.722+1G>A
|
rs786205099
|
|