NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)
|
rs1058180
|
0.72415
|
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)
|
rs291466
|
0.52671
|
NM_014362.4(HIBCH):c.517+15T>A
|
rs291417
|
0.02472
|
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)
|
rs74832989
|
0.01849
|
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)
|
rs61752508
|
0.01780
|
NM_014362.4(HIBCH):c.1038T>A (p.Val346=)
|
rs13406709
|
0.00643
|
NM_014362.4(HIBCH):c.663+19G>T
|
rs75352449
|
0.00485
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
NM_014362.4(HIBCH):c.214C>T (p.Leu72=)
|
rs149479887
|
0.00238
|
NM_014362.4(HIBCH):c.243T>G (p.Thr81=)
|
rs144074606
|
0.00226
|
NM_014362.4(HIBCH):c.438+9A>T
|
rs201813923
|
0.00078
|
NM_014362.4(HIBCH):c.36-13A>T
|
rs199859881
|
0.00064
|
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)
|
rs3213841
|
0.00028
|
NM_014362.4(HIBCH):c.1011+11A>T
|
rs550386327
|
0.00014
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
NM_014362.4(HIBCH):c.438+19C>G
|
rs919531257
|
0.00011
|
NM_014362.4(HIBCH):c.79-7T>C
|
rs201950316
|
0.00011
|
NM_014362.4(HIBCH):c.885A>G (p.Gln295=)
|
rs778683855
|
0.00011
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
NM_014362.4(HIBCH):c.312G>A (p.Ser104=)
|
rs201502204
|
0.00006
|
NM_014362.4(HIBCH):c.35+10A>C
|
rs747167987
|
0.00006
|
NM_014362.4(HIBCH):c.550T>C (p.Leu184=)
|
rs777785491
|
0.00004
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_014362.4(HIBCH):c.438+11T>G
|
rs1414998551
|
0.00002
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
NM_014362.4(HIBCH):c.153A>G (p.Leu51=)
|
rs768948062
|
0.00001
|
NM_014362.4(HIBCH):c.196C>A (p.Arg66=)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.220-9T>G
|
rs786200864
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)
|
rs754178179
|
0.00001
|
NM_014362.4(HIBCH):c.517+1G>A
|
rs1021805910
|
0.00001
|
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)
|
rs1248460683
|
0.00001
|
NM_014362.4(HIBCH):c.79-3C>G
|
rs778922921
|
0.00001
|
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
|
rs1280144449
|
0.00001
|
NM_014362.4(HIBCH):c.891+1G>A
|
rs915412371
|
0.00001
|
NM_014362.4(HIBCH):c.892-18A>C
|
rs113980003
|
0.00001
|
NM_014362.4(HIBCH):c.897T>C (p.Ile299=)
|
rs763947247
|
0.00001
|
NC_000002.12:g.190246209_190246214del
|
rs1686603593
|
|
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
|
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
NM_014362.4(HIBCH):c.1010_1011+3del
|
|
|
NM_014362.4(HIBCH):c.1011+10dup
|
|
|
NM_014362.4(HIBCH):c.1011+20del
|
rs144660628
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
NM_014362.4(HIBCH):c.1012-16C>G
|
|
|
NM_014362.4(HIBCH):c.1012-19A>T
|
|
|
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)
|
rs1364971527
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)
|
rs770114459
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)
|
rs1575690645
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
NM_014362.4(HIBCH):c.129dup (p.Gly44fs)
|
rs767597690
|
|
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)
|
rs1575757363
|
|
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro)
|
rs1553506164
|
|
NM_014362.4(HIBCH):c.219+16A>G
|
rs2105992508
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
NM_014362.4(HIBCH):c.304+9T>G
|
|
|
NM_014362.4(HIBCH):c.305-5C>T
|
|
|
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
NM_014362.4(HIBCH):c.35+8AG[2]
|
rs754126815
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
NM_014362.4(HIBCH):c.385+11del
|
rs374891270
|
|
NM_014362.4(HIBCH):c.385+2T>A
|
rs2105985080
|
|
NM_014362.4(HIBCH):c.386-1G>C
|
rs1203170244
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
NM_014362.4(HIBCH):c.439-1G>A
|
rs2105952039
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)
|
rs752450856
|
|
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
|
|
|
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)
|
rs74832989
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
NM_014362.4(HIBCH):c.517+16T>C
|
|
|
NM_014362.4(HIBCH):c.518-12A>G
|
|
|
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
|
rs1315908015
|
|
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
|
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
NM_014362.4(HIBCH):c.609del (p.Gly204fs)
|
rs776592661
|
|
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)
|
rs1210193670
|
|
NM_014362.4(HIBCH):c.663+13A>G
|
|
|
NM_014362.4(HIBCH):c.663+14T>G
|
|
|
NM_014362.4(HIBCH):c.664-16del
|
|
|
NM_014362.4(HIBCH):c.664-18T>C
|
|
|
NM_014362.4(HIBCH):c.664-2A>G
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
|
|
|
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
|
rs1248460683
|
|
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)
|
rs759563092
|
|
NM_014362.4(HIBCH):c.78+17G>A
|
|
|
NM_014362.4(HIBCH):c.783T>G (p.Leu261=)
|
rs2105934861
|
|
NM_014362.4(HIBCH):c.79-4A>T
|
|
|
NM_014362.4(HIBCH):c.79-9T>C
|
|
|
NM_014362.4(HIBCH):c.798C>T (p.Asp266=)
|
rs2105934821
|
|
NM_014362.4(HIBCH):c.809+19C>T
|
rs1249772787
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014362.4(HIBCH):c.810-4A>G
|
|
|
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)
|
rs1553499757
|
|
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
|
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)
|
rs1686562488
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
|
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
NM_014362.4(HIBCH):c.891+16T>C
|
|
|
NM_014362.4(HIBCH):c.891+18T>C
|
rs959638999
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)
|
rs786204004
|
|
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
|
|
|
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)
|
|
|
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|