NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000140.5(FECH):c.801G>A (p.Met267Ile)
|
rs118204037
|
0.00108
|
NM_000140.5(FECH):c.820G>A (p.Asp274Asn)
|
rs146269992
|
0.00007
|
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
|
rs150146721
|
0.00006
|
NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)
|
rs146899669
|
0.00003
|
NM_000140.5(FECH):c.314+2T>G
|
rs149067146
|
0.00003
|
NM_000140.3(FECH):c.1078_1137del
|
rs879255507
|
0.00001
|
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)
|
rs1324421474
|
0.00001
|
NM_000140.5(FECH):c.599-2A>G
|
rs980047540
|
0.00001
|
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)
|
rs370708663
|
0.00001
|
NC_000018.9:g.(?_55217944)_(55230232_?)del
|
|
|
NC_000018.9:g.(?_55222057)_(55225777_?)del
|
|
|
NC_000018.9:g.(?_55225777)_(55226495_?)del
|
|
|
NC_000018.9:g.(?_55233659)_(55240617_?)del
|
|
|
NC_000018.9:g.(?_55238604)_(55240617_?)del
|
|
|
NC_000018.9:g.(?_55253766)_(55254103_?)del
|
|
|
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
|
|
|
NM_000140.5(FECH):c.1025_1026del (p.Ile342fs)
|
|
|
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
|
|
|
NM_000140.5(FECH):c.1077+1G>A
|
rs786205245
|
|
NM_000140.5(FECH):c.1077+1del
|
|
|
NM_000140.5(FECH):c.1077G>A (p.Glu359=)
|
|
|
NM_000140.5(FECH):c.1078-1G>A
|
|
|
NM_000140.5(FECH):c.1085T>G (p.Val362Gly)
|
rs118204040
|
|
NM_000140.5(FECH):c.1136del (p.Lys379fs)
|
rs764466739
|
|
NM_000140.5(FECH):c.1137+2T>G
|
|
|
NM_000140.5(FECH):c.1137+3A>G
|
rs202147607
|
|
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser)
|
rs118204039
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000140.5(FECH):c.175C>T (p.Gln59Ter)
|
rs2051253130
|
|
NM_000140.5(FECH):c.194+11A>G
|
rs786205247
|
|
NM_000140.5(FECH):c.215dup (p.Leu72fs)
|
|
|
NM_000140.5(FECH):c.253dup (p.Val85fs)
|
rs2122329859
|
|
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)
|
rs984041251
|
|
NM_000140.5(FECH):c.314+6A>C
|
rs786205246
|
|
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
|
|
|
NM_000140.5(FECH):c.463+1G>C
|
rs1206108637
|
|
NM_000140.5(FECH):c.553G>A (p.Ala185Thr)
|
rs397514476
|
|
NM_000140.5(FECH):c.580_584del (p.Tyr194fs)
|
rs786205248
|
|
NM_000140.5(FECH):c.598+1G>T
|
rs1598996309
|
|
NM_000140.5(FECH):c.599-2A>C
|
|
|
NM_000140.5(FECH):c.621C>A (p.Tyr207Ter)
|
|
|
NM_000140.5(FECH):c.627C>A (p.Tyr209Ter)
|
rs2122284871
|
|
NM_000140.5(FECH):c.680G>A (p.Trp227Ter)
|
rs2122284554
|
|
NM_000140.5(FECH):c.843del (p.Ser281fs)
|
rs2122250926
|
|
NM_000140.5(FECH):c.892C>T (p.Arg298Ter)
|
|
|
NM_000140.5(FECH):c.901_902del (p.Trp301fs)
|
rs1430926156
|
|
NM_000140.5(FECH):c.930G>A (p.Trp310Ter)
|
|
|
NM_000140.5(FECH):c.945del (p.Asp316fs)
|
rs2122248224
|
|
NM_000140.5(FECH):c.954dup (p.Ile319fs)
|
|
|
NM_000140.5(FECH):c.963del (p.Leu322fs)
|
|
|