NM_080860.4(RSPH1):c.727+46G>A
|
rs11702140
|
0.59955
|
NM_080860.4(RSPH1):c.393G>A (p.Ala131=)
|
rs2839536
|
0.32419
|
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)
|
rs117385282
|
0.13197
|
NM_080860.4(RSPH1):c.579A>G (p.Arg193=)
|
rs149478284
|
0.02988
|
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
|
rs138007679
|
0.00716
|
NM_080860.4(RSPH1):c.450C>T (p.Ala150=)
|
rs117797631
|
0.00628
|
NM_080860.4(RSPH1):c.365+13T>C
|
rs181902996
|
0.00482
|
NM_080860.4(RSPH1):c.733G>A (p.Gly245Arg)
|
rs151158140
|
0.00463
|
NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)
|
rs150400022
|
0.00262
|
NM_080860.4(RSPH1):c.501+7C>T
|
rs201034280
|
0.00184
|
NM_080860.4(RSPH1):c.870G>A (p.Met290Ile)
|
rs140450252
|
0.00132
|
NM_080860.4(RSPH1):c.711C>T (p.Asp237=)
|
rs75626002
|
0.00126
|
NM_080860.4(RSPH1):c.727+19del
|
rs144909525
|
0.00118
|
NM_080860.4(RSPH1):c.501+14A>G
|
rs368082841
|
0.00115
|
NM_080860.4(RSPH1):c.683C>T (p.Pro228Leu)
|
rs149604283
|
0.00104
|
NM_080860.4(RSPH1):c.877+7T>A
|
rs116369489
|
0.00080
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00072
|
NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys)
|
rs143552625
|
0.00049
|
NM_080860.4(RSPH1):c.919C>T (p.Leu307Phe)
|
rs141886699
|
0.00049
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_080860.4(RSPH1):c.916G>C (p.Asp306His)
|
rs1052502852
|
0.00041
|
NM_080860.4(RSPH1):c.546A>G (p.Gln182=)
|
rs139625725
|
0.00036
|
NM_080860.4(RSPH1):c.315C>T (p.Tyr105=)
|
rs144037391
|
0.00035
|
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)
|
rs137935071
|
0.00031
|
NM_080860.4(RSPH1):c.797C>T (p.Pro266Leu)
|
rs146309440
|
0.00027
|
NM_080860.4(RSPH1):c.673C>T (p.Pro225Ser)
|
rs562591045
|
0.00024
|
NM_080860.4(RSPH1):c.732A>G (p.Ala244=)
|
rs141241740
|
0.00022
|
NM_080860.4(RSPH1):c.574-18T>C
|
rs200788622
|
0.00020
|
NM_080860.4(RSPH1):c.502-18G>A
|
rs371221411
|
0.00017
|
NM_080860.4(RSPH1):c.684G>A (p.Pro228=)
|
rs138330014
|
0.00017
|
NM_080860.4(RSPH1):c.714T>C (p.Ala238=)
|
rs141840867
|
0.00016
|
NM_080860.4(RSPH1):c.774C>T (p.Phe258=)
|
rs144996547
|
0.00015
|
NM_080860.4(RSPH1):c.573+9C>T
|
rs376931534
|
0.00014
|
NM_080860.4(RSPH1):c.430G>A (p.Gly144Arg)
|
rs201489134
|
0.00013
|
NM_080860.4(RSPH1):c.649T>C (p.Leu217=)
|
rs142072750
|
0.00013
|
NM_080860.4(RSPH1):c.817G>A (p.Val273Ile)
|
rs374702500
|
0.00013
|
NM_080860.4(RSPH1):c.653C>T (p.Ala218Val)
|
rs373119665
|
0.00012
|
NM_080860.4(RSPH1):c.11T>G (p.Leu4Arg)
|
rs144240955
|
0.00010
|
NM_080860.4(RSPH1):c.471C>G (p.His157Gln)
|
rs61758127
|
0.00010
|
NM_080860.4(RSPH1):c.559C>T (p.Arg187Cys)
|
rs150576105
|
0.00009
|
NM_080860.4(RSPH1):c.692C>T (p.Thr231Met)
|
rs778123315
|
0.00007
|
NM_080860.4(RSPH1):c.310G>A (p.Val104Ile)
|
rs373683028
|
0.00006
|
NM_080860.4(RSPH1):c.390C>T (p.Tyr130=)
|
rs529633380
|
0.00006
|
NM_080860.4(RSPH1):c.447G>A (p.Thr149=)
|
rs200870072
|
0.00006
|
NM_080860.4(RSPH1):c.483C>A (p.Gly161=)
|
rs371312378
|
0.00006
|
NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)
|
rs139390401
|
0.00006
|
NM_080860.4(RSPH1):c.651G>A (p.Leu217=)
|
rs747395137
|
0.00005
|
NM_080860.4(RSPH1):c.713C>T (p.Ala238Val)
|
rs201984262
|
0.00005
|
NM_080860.4(RSPH1):c.727+5G>A
|
rs200382776
|
0.00005
|
NM_080860.4(RSPH1):c.501+9A>G
|
rs373972724
|
0.00004
|
NM_080860.4(RSPH1):c.693G>A (p.Thr231=)
|
rs372338741
|
0.00004
|
NM_080860.4(RSPH1):c.835C>T (p.Arg279Trp)
|
rs373429437
|
0.00004
|
NM_080860.4(RSPH1):c.513T>C (p.Pro171=)
|
rs767684217
|
0.00003
|
NM_080860.4(RSPH1):c.674C>T (p.Pro225Leu)
|
rs201100138
|
0.00003
|
NM_080860.4(RSPH1):c.727+16G>A
|
rs571130499
|
0.00003
|
NM_080860.4(RSPH1):c.860G>A (p.Arg287His)
|
rs868793685
|
0.00003
|
NM_080860.4(RSPH1):c.295C>T (p.Arg99Trp)
|
rs770359437
|
0.00002
|
NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr)
|
rs781199496
|
0.00002
|
NM_080860.4(RSPH1):c.398C>T (p.Thr133Met)
|
rs529237191
|
0.00002
|
NM_080860.4(RSPH1):c.399G>A (p.Thr133=)
|
rs760016966
|
0.00002
|
NM_080860.4(RSPH1):c.798T>C (p.Pro266=)
|
rs577891231
|
0.00002
|
NM_080860.4(RSPH1):c.824G>A (p.Arg275Gln)
|
rs376500424
|
0.00002
|
NM_080860.4(RSPH1):c.308G>A (p.Gly103Asp)
|
rs587777060
|
0.00001
|
NM_080860.4(RSPH1):c.313T>C (p.Tyr105His)
|
rs1388776078
|
0.00001
|
NM_080860.4(RSPH1):c.350G>T (p.Trp117Leu)
|
rs758245475
|
0.00001
|
NM_080860.4(RSPH1):c.365+4C>T
|
rs201479872
|
0.00001
|
NM_080860.4(RSPH1):c.377G>T (p.Gly126Val)
|
rs1334138475
|
0.00001
|
NM_080860.4(RSPH1):c.451G>A (p.Glu151Lys)
|
rs767070148
|
0.00001
|
NM_080860.4(RSPH1):c.531T>C (p.Asp177=)
|
rs755284624
|
0.00001
|
NM_080860.4(RSPH1):c.560G>A (p.Arg187His)
|
rs746604496
|
0.00001
|
NM_080860.4(RSPH1):c.635C>T (p.Thr212Ile)
|
rs771875847
|
0.00001
|
NM_080860.4(RSPH1):c.636C>T (p.Thr212=)
|
rs765328542
|
0.00001
|
NM_080860.4(RSPH1):c.661A>G (p.Thr221Ala)
|
rs369932767
|
0.00001
|
NM_080860.4(RSPH1):c.709G>C (p.Asp237His)
|
rs368695982
|
0.00001
|
NM_080860.4(RSPH1):c.741C>T (p.Pro247=)
|
rs142166675
|
0.00001
|
NM_080860.4(RSPH1):c.748G>A (p.Glu250Lys)
|
rs1057278008
|
0.00001
|
NM_080860.4(RSPH1):c.775G>A (p.Glu259Lys)
|
rs762397242
|
0.00001
|
NM_080860.4(RSPH1):c.877+13C>T
|
rs747107857
|
0.00001
|
NC_000021.8:g.(?_43892928)_(43893000_?)dup
|
|
|
NC_000021.8:g.(?_43892928)_(43916296_?)del
|
|
|
NC_000021.8:g.(?_43912848)_(43916296_?)del
|
|
|
NM_080860.4(RSPH1):c.18G>C (p.Ser6=)
|
|
|
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)
|
rs587777635
|
|
NM_080860.4(RSPH1):c.287_305dup (p.His102delinsGlnTer)
|
rs2054181752
|
|
NM_080860.4(RSPH1):c.287dup (p.Asn96fs)
|
rs1060501861
|
|
NM_080860.4(RSPH1):c.300C>T (p.His100=)
|
|
|
NM_080860.4(RSPH1):c.306T>C (p.His102=)
|
|
|
NM_080860.4(RSPH1):c.309C>T (p.Gly103=)
|
|
|
NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter)
|
rs144037391
|
|
NM_080860.4(RSPH1):c.317A>G (p.Tyr106Cys)
|
rs2054181407
|
|
NM_080860.4(RSPH1):c.325A>G (p.Asn109Asp)
|
|
|
NM_080860.4(RSPH1):c.326A>G (p.Asn109Ser)
|
|
|
NM_080860.4(RSPH1):c.340A>G (p.Thr114Ala)
|
rs764166547
|
|
NM_080860.4(RSPH1):c.358C>T (p.His120Tyr)
|
|
|
NM_080860.4(RSPH1):c.365+10C>T
|
rs962821435
|
|
NM_080860.4(RSPH1):c.365+5G>A
|
|
|
NM_080860.4(RSPH1):c.366-17C>T
|
|
|
NM_080860.4(RSPH1):c.366-3C>A
|
rs587777058
|
|
NM_080860.4(RSPH1):c.372G>A (p.Gly124=)
|
|
|
NM_080860.4(RSPH1):c.376G>A (p.Gly126Ser)
|
|
|
NM_080860.4(RSPH1):c.390C>A (p.Tyr130Ter)
|
|
|
NM_080860.4(RSPH1):c.39A>T (p.Gly13=)
|
rs2054286476
|
|
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)
|
rs587777059
|
|
NM_080860.4(RSPH1):c.412G>A (p.Val138Ile)
|
|
|
NM_080860.4(RSPH1):c.429C>T (p.Asn143=)
|
|
|
NM_080860.4(RSPH1):c.433C>A (p.Gln145Lys)
|
rs778786028
|
|
NM_080860.4(RSPH1):c.446C>T (p.Thr149Met)
|
|
|
NM_080860.4(RSPH1):c.470A>G (p.His157Arg)
|
rs1226405216
|
|
NM_080860.4(RSPH1):c.474G>A (p.Arg158=)
|
|
|
NM_080860.4(RSPH1):c.501+13G>A
|
|
|
NM_080860.4(RSPH1):c.501+17T>C
|
|
|
NM_080860.4(RSPH1):c.502-1G>A
|
|
|
NM_080860.4(RSPH1):c.502-4G>A
|
|
|
NM_080860.4(RSPH1):c.537G>T (p.Gly179=)
|
|
|
NM_080860.4(RSPH1):c.549T>C (p.His183=)
|
rs780989649
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
NM_080860.4(RSPH1):c.573+10G>A
|
|
|
NM_080860.4(RSPH1):c.573+1_573+17del
|
rs1064792947
|
|
NM_080860.4(RSPH1):c.598G>A (p.Glu200Lys)
|
|
|
NM_080860.4(RSPH1):c.624A>G (p.Lys208=)
|
rs1168301982
|
|
NM_080860.4(RSPH1):c.630A>C (p.Lys210Asn)
|
rs2054078912
|
|
NM_080860.4(RSPH1):c.634dup (p.Thr212fs)
|
|
|
NM_080860.4(RSPH1):c.637C>A (p.Gln213Lys)
|
rs146298259
|
|
NM_080860.4(RSPH1):c.637C>T (p.Gln213Ter)
|
rs146298259
|
|
NM_080860.4(RSPH1):c.638A>C (p.Gln213Pro)
|
rs1403144349
|
|
NM_080860.4(RSPH1):c.648A>G (p.Glu216=)
|
rs2054078510
|
|
NM_080860.4(RSPH1):c.652G>A (p.Ala218Thr)
|
|
|
NM_080860.4(RSPH1):c.654C>T (p.Ala218=)
|
|
|
NM_080860.4(RSPH1):c.655C>T (p.Leu219=)
|
|
|
NM_080860.4(RSPH1):c.655del (p.Leu219fs)
|
rs767700639
|
|
NM_080860.4(RSPH1):c.670C>G (p.Leu224Val)
|
rs375795708
|
|
NM_080860.4(RSPH1):c.670C>T (p.Leu224Phe)
|
rs375795708
|
|
NM_080860.4(RSPH1):c.680dup (p.Pro228fs)
|
rs556286752
|
|
NM_080860.4(RSPH1):c.695A>T (p.Asp232Val)
|
rs748503692
|
|
NM_080860.4(RSPH1):c.705C>T (p.Gly235=)
|
|
|
NM_080860.4(RSPH1):c.709G>A (p.Asp237Asn)
|
rs368695982
|
|
NM_080860.4(RSPH1):c.712G>A (p.Ala238Thr)
|
rs200745905
|
|
NM_080860.4(RSPH1):c.712G>C (p.Ala238Pro)
|
rs200745905
|
|
NM_080860.4(RSPH1):c.727+11C>A
|
|
|
NM_080860.4(RSPH1):c.727+11C>T
|
rs201392587
|
|
NM_080860.4(RSPH1):c.727+11_727+83del
|
|
|
NM_080860.4(RSPH1):c.727+15C>G
|
rs202146973
|
|
NM_080860.4(RSPH1):c.727+18_727+19insGGGCACCCCCGGGTGTGGGGTGGAGGGGGCAGAGGGTGTA
|
|
|
NM_080860.4(RSPH1):c.727+20T>G
|
|
|
NM_080860.4(RSPH1):c.727+6G>A
|
|
|
NM_080860.4(RSPH1):c.727+6G>C
|
rs374688679
|
|
NM_080860.4(RSPH1):c.727_727+138del
|
rs1555875358
|
|
NM_080860.4(RSPH1):c.728-20T>G
|
|
|
NM_080860.4(RSPH1):c.751G>T (p.Ala251Ser)
|
|
|
NM_080860.4(RSPH1):c.788A>G (p.Asp263Gly)
|
rs2054043796
|
|
NM_080860.4(RSPH1):c.790_791del (p.Met264fs)
|
|
|
NM_080860.4(RSPH1):c.795G>A (p.Arg265=)
|
rs2054043655
|
|
NM_080860.4(RSPH1):c.812C>A (p.Ala271Glu)
|
|
|
NM_080860.4(RSPH1):c.816C>T (p.Asp272=)
|
|
|
NM_080860.4(RSPH1):c.819C>T (p.Val273=)
|
rs1555875193
|
|
NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)
|
rs2054042523
|
|
NM_080860.4(RSPH1):c.850GAG[1] (p.Glu285del)
|
rs562822292
|
|
NM_080860.4(RSPH1):c.877+14G>A
|
|
|
NM_080860.4(RSPH1):c.878-4T>G
|
|
|
NM_080860.4(RSPH1):c.912G>A (p.Gln304=)
|
|
|