NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.3(FH):c.556_557delAG
|
rs1131691235
|
|
NM_000143.4(FH):c.1000dup (p.Ser334fs)
|
rs1659853029
|
|
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)
|
rs863223973
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.1068del (p.Ile357fs)
|
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)
|
rs1659848371
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.1236+1G>C
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+2T>G
|
|
|
NM_000143.4(FH):c.1237-2A>G
|
rs2147913407
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
NM_000143.4(FH):c.1247del (p.Val416fs)
|
rs2147913368
|
|
NM_000143.4(FH):c.1287del (p.Phe430fs)
|
rs1659746788
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1298dup (p.Asn433fs)
|
rs1573878071
|
|
NM_000143.4(FH):c.129_132+5delinsGAGC
|
|
|
NM_000143.4(FH):c.132G>A (p.Met44Ile)
|
rs863223982
|
|
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)
|
rs863223977
|
|
NM_000143.4(FH):c.1347del (p.Met449fs)
|
rs1060500903
|
|
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer)
|
rs863223990
|
|
NM_000143.4(FH):c.134del (p.Ala45fs)
|
rs1131691237
|
|
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)
|
rs863223992
|
|
NM_000143.4(FH):c.1391-1G>T
|
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2A>G
|
rs863224008
|
|
NM_000143.4(FH):c.1391-2A>T
|
rs863224008
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1413dup (p.Ala472fs)
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)
|
rs1131691245
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1482del (p.Glu495fs)
|
|
|
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)
|
rs886039368
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
|
rs863224013
|
|
NM_000143.4(FH):c.174_177dup (p.Leu60Ter)
|
rs1131691246
|
|
NM_000143.4(FH):c.175G>T (p.Glu59Ter)
|
rs1573888513
|
|
NM_000143.4(FH):c.201T>A (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.204T>G (p.Tyr68Ter)
|
|
|
NM_000143.4(FH):c.211C>T (p.Gln71Ter)
|
|
|
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
|
|
|
NM_000143.4(FH):c.237dup (p.Lys80Ter)
|
rs1553341945
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.243del (p.Ile81fs)
|
rs1573888356
|
|
NM_000143.4(FH):c.267+1G>A
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.273dup (p.Val92fs)
|
|
|
NM_000143.4(FH):c.295_301del (p.Leu99fs)
|
rs863224017
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)
|
rs876658569
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.353del (p.Asn118fs)
|
rs1558401064
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.379-1G>A
|
rs1553341623
|
|
NM_000143.4(FH):c.379-2A>G
|
rs1131691240
|
|
NM_000143.4(FH):c.382dup (p.Ala128fs)
|
|
|
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
|
|
|
NM_000143.4(FH):c.423del (p.Trp141fs)
|
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
|
|
|
NM_000143.4(FH):c.434C>G (p.Ser145Ter)
|
rs1573885482
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.551del (p.Ser184fs)
|
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+1_555+9del
|
|
|
NM_000143.4(FH):c.563del (p.Asn188fs)
|
rs1131691248
|
|
NM_000143.4(FH):c.566dup (p.Asp189fs)
|
|
|
NM_000143.4(FH):c.568_569del (p.Thr190fs)
|
rs1553341367
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.624del (p.Leu208fs)
|
rs2147919608
|
|
NM_000143.4(FH):c.663dup (p.Ser222fs)
|
rs1573883195
|
|
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
|
|
|
NM_000143.4(FH):c.689A>G (p.Lys230Arg)
|
rs752232718
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.704A>G (p.His235Arg)
|
rs1659990191
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.738G>A (p.Gln246=)
|
|
|
NM_000143.4(FH):c.739G>T (p.Glu247Ter)
|
rs1131691243
|
|
NM_000143.4(FH):c.757C>T (p.Gln253Ter)
|
rs1131691239
|
|
NM_000143.4(FH):c.763_767del (p.Val255fs)
|
|
|
NM_000143.4(FH):c.780_781del (p.Arg261fs)
|
rs1659924638
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.805del (p.Ile269fs)
|
rs1131691234
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.842C>T (p.Thr281Ile)
|
rs1573881633
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000143.4(FH):c.999C>A (p.Cys333Ter)
|
rs1553341031
|
|