NM_020433.5(JPH2):c.156C>T (p.Tyr52=)
|
rs1883790
|
0.86681
|
NM_020433.5(JPH2):c.379+36A>G
|
rs6031442
|
0.86287
|
NM_020433.5(JPH2):c.-393C>A
|
rs6031444
|
0.60982
|
NM_020433.5(JPH2):c.379+8538T>A
|
rs2064381
|
0.56659
|
NM_020433.5(JPH2):c.1289-89A>C
|
rs6073336
|
0.51040
|
NM_020433.5(JPH2):c.379+130T>C
|
rs6031441
|
0.42054
|
NM_020433.5(JPH2):c.379+279C>A
|
rs2092518
|
0.42042
|
NM_020433.5(JPH2):c.*14+269C>T
|
rs2867794
|
0.40853
|
NM_020433.5(JPH2):c.2073T>C (p.Phe691=)
|
rs6093935
|
0.33656
|
NM_020433.5(JPH2):c.*14+173A>G
|
rs56170305
|
0.33284
|
NM_020433.5(JPH2):c.1728C>G (p.Pro576=)
|
rs74352869
|
0.22485
|
NM_020433.5(JPH2):c.-401G>A
|
rs41279278
|
0.20507
|
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)
|
rs3810510
|
0.19815
|
NM_020433.5(JPH2):c.379+8605C>G
|
rs6130557
|
0.19687
|
NM_020433.5(JPH2):c.1169+123A>G
|
rs55825903
|
0.12105
|
NM_020433.5(JPH2):c.2010+40C>G
|
rs56061946
|
0.11470
|
NM_020433.4(JPH2):c.-974T>C
|
rs17755091
|
0.09671
|
NM_020433.5(JPH2):c.*258G>A
|
rs13043824
|
0.09303
|
NM_020433.5(JPH2):c.1179C>T (p.His393=)
|
rs7268512
|
0.08526
|
NM_020433.5(JPH2):c.379+77C>T
|
rs75804573
|
0.08287
|
NM_020433.5(JPH2):c.*15-115A>C
|
rs116834259
|
0.02818
|
NM_020433.5(JPH2):c.379+8059T>C
|
rs111784271
|
0.02185
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_020433.5(JPH2):c.380-9C>G
|
rs111987307
|
0.00423
|
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)
|
rs574746149
|
0.00214
|
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)
|
rs369883442
|
0.00212
|
NM_020433.5(JPH2):c.380-6C>T
|
rs201197277
|
0.00201
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr)
|
rs730880254
|
0.00099
|
NM_020433.5(JPH2):c.1424G>A (p.Arg475His)
|
rs765754956
|
0.00079
|
NM_020433.5(JPH2):c.2010+11C>T
|
rs201615229
|
0.00051
|
NM_020433.5(JPH2):c.2011-17C>T
|
rs375414020
|
0.00051
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_020433.5(JPH2):c.1137C>A (p.Ile379=)
|
rs143158930
|
0.00046
|
NM_020433.5(JPH2):c.1704C>T (p.Ser568=)
|
rs200892606
|
0.00046
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_020433.5(JPH2):c.1410G>A (p.Pro470=)
|
rs751126526
|
0.00036
|
NM_020433.5(JPH2):c.780C>T (p.Ala260=)
|
rs199840543
|
0.00034
|
NM_020433.5(JPH2):c.783G>C (p.Ala261=)
|
rs201085317
|
0.00034
|
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)
|
rs148311735
|
0.00033
|
NM_020433.5(JPH2):c.1731G>A (p.Glu577=)
|
rs530433203
|
0.00032
|
NM_020433.5(JPH2):c.1566G>A (p.Arg522=)
|
rs559143345
|
0.00031
|
NM_020433.5(JPH2):c.648G>A (p.Lys216=)
|
rs796219248
|
0.00029
|
NM_020433.5(JPH2):c.1233G>A (p.Glu411=)
|
rs143061111
|
0.00026
|
NM_020433.5(JPH2):c.379+12T>G
|
rs763058686
|
0.00023
|
NM_020433.5(JPH2):c.483G>A (p.Thr161=)
|
rs746384802
|
0.00023
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
NM_020433.5(JPH2):c.1974C>T (p.Ala658=)
|
rs554320907
|
0.00004
|
NM_020433.5(JPH2):c.1170-11T>C
|
rs376052338
|
0.00003
|
NM_020433.5(JPH2):c.379+20C>T
|
rs551866698
|
0.00003
|
NM_020433.5(JPH2):c.1497C>A (p.Pro499=)
|
rs1441785257
|
0.00002
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
NM_020433.5(JPH2):c.1671G>A (p.Glu557=)
|
rs754665306
|
0.00001
|
NM_020433.5(JPH2):c.810C>A (p.Ala270=)
|
rs779680763
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:42801971-42821839)x3
|
|
|
NM_020433.5(JPH2):c.*14+173AC[13]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[18]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[19]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[20]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[21]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[23]
|
rs3037626
|
|
NM_020433.5(JPH2):c.-450G>C
|
rs2235808
|
|
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr)
|
rs1060503798
|
|
NM_020433.5(JPH2):c.2010+146G>C
|
rs6103631
|
|
NM_020433.5(JPH2):c.468C>G (p.Arg156=)
|
rs553395930
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|