NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000128.4(F11):c.943G>A (p.Glu315Lys)
|
rs281875257
|
0.00006
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
NM_000128.4(F11):c.802C>T (p.Arg268Cys)
|
rs763496524
|
0.00005
|
NM_000128.4(F11):c.1778C>T (p.Thr593Met)
|
rs145906668
|
0.00004
|
NM_000128.4(F11):c.325+1G>A
|
rs140190776
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)
|
rs773905328
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000128.4(F11):c.1716+1G>A
|
rs373297713
|
0.00003
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000128.4(F11):c.682C>T (p.Arg228Ter)
|
rs752907087
|
0.00002
|
NM_000128.4(F11):c.738G>A (p.Trp246Ter)
|
rs281875279
|
0.00002
|
NM_000128.4(F11):c.976C>T (p.Arg326Cys)
|
rs28934608
|
0.00002
|
NM_000128.4(F11):c.1026G>T (p.Gly342=)
|
rs768894507
|
0.00001
|
NM_000128.4(F11):c.1060G>A (p.Gly354Arg)
|
rs777714867
|
0.00001
|
NM_000128.4(F11):c.1136-7_1136-4del
|
rs1439195599
|
0.00001
|
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)
|
rs771896253
|
0.00001
|
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)
|
rs779802284
|
0.00001
|
NM_000128.4(F11):c.1253G>T (p.Gly418Val)
|
rs121965071
|
0.00001
|
NM_000128.4(F11):c.1378T>G (p.Phe460Val)
|
rs121965065
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)
|
rs201007090
|
0.00001
|
NM_000128.4(F11):c.1608G>C (p.Lys536Asn)
|
rs774280710
|
0.00001
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
NM_000128.4(F11):c.326-1G>A
|
rs1057517364
|
0.00001
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
NM_000128.4(F11):c.408C>A (p.Cys136Ter)
|
rs143648758
|
0.00001
|
NM_000128.4(F11):c.419G>A (p.Cys140Tyr)
|
rs281875256
|
0.00001
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000128.4(F11):c.730C>T (p.Gln244Ter)
|
rs747702749
|
0.00001
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
NM_000128.4(F11):c.841C>T (p.Gln281Ter)
|
rs770505620
|
0.00001
|
NC_000004.11:g.(?_187186995)_(187188355_?)del
|
|
|
NC_000004.11:g.(?_187201156)_(187201744_?)del
|
|
|
NC_000004.11:g.(?_187208828)_(187208988_?)del
|
|
|
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
|
|
|
NC_000004.12:g.(?_186265841)_(186288624_?)del
|
|
|
NM_000128.4(F11):c.-1-4_11del
|
|
|
NM_000128.4(F11):c.1006C>T (p.Gln336Ter)
|
rs2126758583
|
|
NM_000128.4(F11):c.1016_1017delinsAA (p.Cys339Ter)
|
|
|
NM_000128.4(F11):c.1017C>A (p.Cys339Ter)
|
rs745901569
|
|
NM_000128.4(F11):c.1029-2A>G
|
rs1024865708
|
|
NM_000128.4(F11):c.1075del (p.Ile359fs)
|
rs786204429
|
|
NM_000128.4(F11):c.1103G>A (p.Gly368Glu)
|
|
|
NM_000128.4(F11):c.1204C>T (p.Gln402Ter)
|
rs1741002305
|
|
NM_000128.4(F11):c.1211C>A (p.Thr404Asn)
|
rs121965067
|
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
|
NM_000128.4(F11):c.1235_1236insAA (p.His414fs)
|
rs2126773212
|
|
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)
|
rs1580098946
|
|
NM_000128.4(F11):c.1289C>T (p.Ala430Val)
|
rs121965068
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
|
NM_000128.4(F11):c.1325del (p.Leu442fs)
|
rs757530565
|
|
NM_000128.4(F11):c.1367del (p.Glu456fs)
|
|
|
NM_000128.4(F11):c.1369_1370dup (p.Asp457fs)
|
|
|
NM_000128.4(F11):c.1390C>T (p.Gln464Ter)
|
rs1057517035
|
|
NM_000128.4(F11):c.1443del (p.Ile481fs)
|
rs778810767
|
|
NM_000128.4(F11):c.1449del (p.Leu483fs)
|
rs1741165195
|
|
NM_000128.4(F11):c.1465del (p.Thr489fs)
|
rs1561490982
|
|
NM_000128.4(F11):c.1512del (p.Gly505fs)
|
|
|
NM_000128.4(F11):c.1557G>C (p.Trp519Cys)
|
|
|
NM_000128.4(F11):c.1627G>T (p.Glu543Ter)
|
|
|
NM_000128.4(F11):c.168T>A (p.Cys56Ter)
|
|
|
NM_000128.4(F11):c.16C>T (p.Gln6Ter)
|
rs1554081288
|
|
NM_000128.4(F11):c.1726G>T (p.Gly576Ter)
|
|
|
NM_000128.4(F11):c.1746del (p.Lys582fs)
|
rs2126791111
|
|
NM_000128.4(F11):c.1760G>C (p.Trp587Ser)
|
rs121965072
|
|
NM_000128.4(F11):c.1772G>A (p.Gly591Asp)
|
|
|
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)
|
rs28934609
|
|
NM_000128.4(F11):c.1822T>C (p.Tyr608His)
|
rs281875255
|
|
NM_000128.4(F11):c.219G>A (p.Trp73Ter)
|
rs762013077
|
|
NM_000128.4(F11):c.301_307dup (p.Cys103Ter)
|
rs1740105027
|
|
NM_000128.4(F11):c.304C>T (p.Gln102Ter)
|
|
|
NM_000128.4(F11):c.433del (p.His145fs)
|
|
|
NM_000128.4(F11):c.449_450del (p.Thr150fs)
|
rs1740201702
|
|
NM_000128.4(F11):c.485+5G>C
|
rs1173748968
|
|
NM_000128.4(F11):c.55+1del
|
|
|
NM_000128.4(F11):c.586del (p.Ser196fs)
|
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
|
|
|
NM_000128.4(F11):c.727dup (p.Ser243fs)
|
|
|
NM_000128.4(F11):c.760_761insAGATG (p.Leu254fs)
|
|
|
NM_000128.4(F11):c.769del (p.Thr259fs)
|
rs1554082832
|
|
NM_000128.4(F11):c.908del (p.Gly303fs)
|
rs786204722
|
|
NM_000128.4(F11):c.961_962del (p.Cys321fs)
|
rs786204449
|
|
NM_000128.4(F11):c.979del (p.Cys327fs)
|
|
|
NM_000128.4(F11):c.981C>A (p.Cys327Ter)
|
|
|
Single allele
|
|
|