NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)
|
rs759396688
|
0.00006
|
NM_000048.4(ASL):c.688A>G (p.Met230Val)
|
rs143957662
|
0.00006
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
|
rs199938613
|
0.00002
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
NM_000048.4(ASL):c.524+2T>G
|
rs869312976
|
0.00002
|
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)
|
rs752397242
|
0.00002
|
NM_000048.4(ASL):c.62T>C (p.Met21Thr)
|
rs774392615
|
0.00002
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
NM_000048.4(ASL):c.918+5G>A
|
rs781331391
|
0.00002
|
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)
|
rs764546937
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)
|
rs770167670
|
0.00001
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)
|
rs770375565
|
0.00001
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)
|
rs201962738
|
0.00001
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00001
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
NM_000048.4(ASL):c.446C>T (p.Ala149Val)
|
rs777288665
|
0.00001
|
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)
|
rs769017508
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000048.4(ASL):c.719-1G>A
|
rs369828060
|
0.00001
|
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)
|
rs924321091
|
0.00001
|
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)
|
rs1405344068
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NC_000007.13:g.(?_65541069)_(65541100_?)del
|
|
|
NC_000007.13:g.(?_65541069)_(65548181_?)del
|
|
|
NC_000007.13:g.(?_65546932)_(65549932_?)del
|
|
|
NC_000007.13:g.(?_65547857)_(65548171_?)del
|
|
|
NC_000007.13:g.(?_65556973)_(65557899_?)del
|
|
|
NC_000007.13:g.(?_65557534)_(65557909_?)del
|
|
|
NC_000007.14:g.(?_65960877)_(66092932_?)del
|
|
|
NC_000007.14:g.(?_66076062)_(66092932_?)del
|
|
|
NC_000007.14:g.(?_66076072)_(66092922_?)del
|
|
|
NC_000007.14:g.(?_66081783)_(66083194_?)del
|
|
|
NM_000048.3(ASL):c.979delG
|
rs1584032751
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
NM_000048.4(ASL):c.1045_1062+7del
|
rs1329070853
|
|
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)
|
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)
|
rs875989948
|
|
NM_000048.4(ASL):c.1098dup (p.Asp367fs)
|
|
|
NM_000048.4(ASL):c.111_133del (p.Asp38fs)
|
rs1554326267
|
|
NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter)
|
rs1786880122
|
|
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter)
|
rs2115764913
|
|
NM_000048.4(ASL):c.122G>A (p.Gly41Asp)
|
rs1562737230
|
|
NM_000048.4(ASL):c.1250+1G>A
|
|
|
NM_000048.4(ASL):c.1267G>C (p.Asp423His)
|
|
|
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter)
|
rs780846396
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)
|
rs932494060
|
|
NM_000048.4(ASL):c.159del (p.Leu54fs)
|
rs1786516110
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
|
NM_000048.4(ASL):c.221G>A (p.Trp74Ter)
|
rs2115694416
|
|
NM_000048.4(ASL):c.231_243del (p.Phe79fs)
|
|
|
NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs)
|
|
|
NM_000048.4(ASL):c.348+1G>A
|
|
|
NM_000048.4(ASL):c.377G>C (p.Arg126Pro)
|
rs777235530
|
|
NM_000048.4(ASL):c.387C>A (p.Cys129Ter)
|
|
|
NM_000048.4(ASL):c.406del (p.Leu136fs)
|
|
|
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
|
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
|
NM_000048.4(ASL):c.437G>C (p.Arg146Pro)
|
rs796051931
|
|
NM_000048.4(ASL):c.446+1G>C
|
|
|
NM_000048.4(ASL):c.447-2A>G
|
|
|
NM_000048.4(ASL):c.451_452dup (p.Asp152fs)
|
rs1786667696
|
|
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)
|
rs1180650883
|
|
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer)
|
rs796051932
|
|
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)
|
rs1786675239
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
NM_000048.4(ASL):c.58del (p.Ile20fs)
|
|
|
NM_000048.4(ASL):c.602+2T>C
|
|
|
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
|
|
|
NM_000048.4(ASL):c.614C>T (p.Ala205Val)
|
rs796051925
|
|
NM_000048.4(ASL):c.631_647del (p.Val211fs)
|
rs1554327181
|
|
NM_000048.4(ASL):c.656-1G>A
|
|
|
NM_000048.4(ASL):c.691G>C (p.Asp231His)
|
|
|
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)
|
rs761268464
|
|
NM_000048.4(ASL):c.719-1G>C
|
rs369828060
|
|
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)
|
rs1554327573
|
|
NM_000048.4(ASL):c.765dup (p.Met256fs)
|
rs1562742141
|
|
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
|
|
|
NM_000048.4(ASL):c.94_100del (p.Arg32fs)
|
rs1554326263
|
|
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)
|
|
|
NM_000048.4(ASL):c.973_976del (p.Leu325fs)
|
rs763407938
|
|
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
|
|
|
NM_000048.4(ASL):c.976C>T (p.Gln326Ter)
|
|
|