NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.514A>G (p.Lys172Glu)
|
rs201154463
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NC_000001.11:g.(?_241508593)_(241513723_?)del
|
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1021G>A (p.Asp341Asn)
|
rs11545655
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu)
|
rs863223987
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1109-1G>C
|
rs1298313966
|
|
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
|
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1145T>C (p.Met382Thr)
|
rs2147914987
|
|
NM_000143.4(FH):c.1146G>A (p.Met382Ile)
|
rs863224006
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1158A>C (p.Gln386His)
|
rs2147914951
|
|
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
|
|
|
NM_000143.4(FH):c.1205A>T (p.His402Leu)
|
rs886039366
|
|
NM_000143.4(FH):c.1237-1G>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1250T>G (p.Leu417Ter)
|
rs1553340709
|
|
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
|
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
|
|
|
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
|
|
|
NM_000143.4(FH):c.1302C>A (p.Cys434Ter)
|
rs2070080
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2del
|
rs1064795320
|
|
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)
|
rs863224012
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1446A>C (p.Leu482Phe)
|
rs863223979
|
|
NM_000143.4(FH):c.1486C>T (p.Gln496Ter)
|
rs1553340506
|
|
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
|
|
|
NM_000143.4(FH):c.152G>C (p.Arg51Pro)
|
rs976734433
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.1A>T (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.263T>A (p.Met88Lys)
|
rs763390436
|
|
NM_000143.4(FH):c.266_267+1delinsATT
|
|
|
NM_000143.4(FH):c.268-3_268-2del
|
rs2147923117
|
|
NM_000143.4(FH):c.2T>A (p.Met1Lys)
|
rs201261794
|
|
NM_000143.4(FH):c.2T>C (p.Met1Thr)
|
rs201261794
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.3G>A (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.3G>C (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.448A>G (p.Asn150Asp)
|
rs1660099527
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.462T>G (p.Asn154Lys)
|
rs2147921891
|
|
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
|
|
|
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
|
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.521C>A (p.Pro174His)
|
rs199822819
|
|
NM_000143.4(FH):c.527A>G (p.His176Arg)
|
rs1158759883
|
|
NM_000143.4(FH):c.530C>G (p.Pro177Arg)
|
rs2147921795
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.539A>T (p.His180Leu)
|
rs863224015
|
|
NM_000143.4(FH):c.554A>C (p.Gln185Pro)
|
rs779707997
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+1G>A
|
rs1375252870
|
|
NM_000143.4(FH):c.555+5G>C
|
rs1553341582
|
|
NM_000143.4(FH):c.556-2A>C
|
|
|
NM_000143.4(FH):c.556-2A>G
|
rs750273092
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.556-9_556-2del
|
|
|
NM_000143.4(FH):c.563A>T (p.Asn188Ile)
|
rs2147919711
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.574C>G (p.Pro192Ala)
|
rs1573883345
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.589A>T (p.Ile197Phe)
|
rs201764931
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.690G>C (p.Lys230Asn)
|
rs2147919465
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>C (p.Arg233Pro)
|
rs121913123
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
NM_000143.4(FH):c.700A>C (p.Thr234Pro)
|
rs372505976
|
|
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
|
|
|
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
|
|
|
NM_000143.4(FH):c.703C>A (p.His235Asn)
|
|
|
NM_000143.4(FH):c.703C>G (p.His235Asp)
|
rs863223968
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.705T>G (p.His235Gln)
|
rs919993170
|
|
NM_000143.4(FH):c.706A>G (p.Thr236Ala)
|
rs1064793126
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.81delinsAT (p.Leu28fs)
|
rs1553342155
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.844G>C (p.Gly282Arg)
|
rs1573881629
|
|
NM_000143.4(FH):c.845G>T (p.Gly282Val)
|
rs935002190
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.893C>T (p.Ala298Val)
|
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.904+1G>T
|
rs1553341148
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.915T>G (p.Phe305Leu)
|
rs2147916371
|
|
NM_000143.4(FH):c.923C>T (p.Ala308Val)
|
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.934T>G (p.Phe312Val)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.935T>G (p.Phe312Cys)
|
rs1553341046
|
|
NM_000143.4(FH):c.937G>A (p.Glu313Lys)
|
rs863224001
|
|
NM_000143.4(FH):c.944T>C (p.Leu315Pro)
|
rs1573880531
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.947C>T (p.Ala316Val)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.967G>A (p.Glu323Lys)
|
rs2147916256
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|