NM_004577.3(PSPH):c.-720G>T
|
rs190794562
|
0.00491
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
NM_004577.4(PSPH):c.-339T>C
|
rs535243315
|
0.00078
|
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser)
|
rs147077540
|
0.00066
|
NM_004577.4(PSPH):c.-357C>T
|
rs745752622
|
0.00056
|
NM_004577.3(PSPH):c.-683G>C
|
rs148855313
|
0.00019
|
NM_004577.3(PSPH):c.-708C>A
|
rs187219685
|
0.00019
|
NM_004577.4(PSPH):c.*457C>T
|
rs1318551050
|
0.00019
|
NM_004577.4(PSPH):c.-485A>G
|
rs530804173
|
0.00019
|
NM_004577.4(PSPH):c.*12G>A
|
rs376164457
|
0.00016
|
NM_004577.4(PSPH):c.422-3A>C
|
rs376149020
|
0.00014
|
NM_004577.4(PSPH):c.*341G>A
|
rs886062387
|
0.00011
|
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)
|
rs536712417
|
0.00009
|
NM_004577.4(PSPH):c.-130G>T
|
rs529188025
|
0.00007
|
NM_004577.4(PSPH):c.129G>A (p.Ala43=)
|
rs548513131
|
0.00007
|
NM_004577.4(PSPH):c.*278C>T
|
rs183424432
|
0.00006
|
NM_004577.4(PSPH):c.-145-15A>G
|
rs552907219
|
0.00006
|
NM_004577.4(PSPH):c.*309A>G
|
rs886062388
|
0.00005
|
NM_004577.4(PSPH):c.*588G>A
|
rs751911806
|
0.00005
|
NM_004577.4(PSPH):c.346G>A (p.Val116Ile)
|
rs751400364
|
0.00005
|
NM_004577.4(PSPH):c.420C>T (p.Asn140=)
|
rs146276460
|
0.00005
|
NM_004577.4(PSPH):c.*316C>T
|
rs190483183
|
0.00004
|
NM_004577.4(PSPH):c.*371A>G
|
rs564916020
|
0.00004
|
NM_004577.4(PSPH):c.*649A>C
|
rs766855269
|
0.00004
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
NM_004577.4(PSPH):c.570+5G>C
|
rs373367280
|
0.00004
|
NM_004577.3(PSPH):c.-711G>A
|
rs886062397
|
0.00003
|
NM_004577.4(PSPH):c.*22A>G
|
rs374366346
|
0.00003
|
NM_004577.4(PSPH):c.*277G>A
|
rs886062389
|
0.00003
|
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln)
|
rs554689284
|
0.00003
|
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser)
|
rs761409780
|
0.00003
|
NM_004577.4(PSPH):c.469G>T (p.Gly157Ter)
|
rs1410416350
|
0.00002
|
NM_004577.4(PSPH):c.597T>G (p.Asn199Lys)
|
rs1324086852
|
0.00002
|
NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys)
|
rs775832385
|
0.00002
|
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)
|
rs104894035
|
0.00002
|
NM_004577.3(PSPH):c.-715T>C
|
rs886062398
|
0.00001
|
NM_004577.4(PSPH):c.-461A>G
|
rs886062394
|
0.00001
|
NM_004577.4(PSPH):c.235C>T (p.Leu79Phe)
|
rs201222280
|
0.00001
|
NM_004577.4(PSPH):c.289C>T (p.Arg97Cys)
|
rs754344374
|
0.00001
|
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser)
|
rs771251320
|
0.00001
|
NM_004577.4(PSPH):c.446C>T (p.Thr149Met)
|
rs374024099
|
0.00001
|
NM_004577.4(PSPH):c.467G>A (p.Gly156Asp)
|
rs750270446
|
0.00001
|
NM_004577.4(PSPH):c.481G>A (p.Val161Met)
|
rs765086289
|
0.00001
|
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser)
|
rs1253579440
|
0.00001
|
NM_004577.4(PSPH):c.575C>T (p.Ala192Val)
|
rs779259191
|
0.00001
|
NM_004577.4(PSPH):c.596A>T (p.Asn199Ile)
|
rs753682900
|
0.00001
|
NM_004577.4(PSPH):c.60T>C (p.Asp20=)
|
rs201376678
|
0.00001
|
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys)
|
rs935820820
|
0.00001
|
NC_000007.13:g.(?_56079455)_(56082884_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56085092_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56085092_?)dup
|
|
|
NC_000007.13:g.(?_56079455)_(56174106_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56174106_?)dup
|
|
|
NM_004577.3(PSPH):c.-681A>C
|
rs886062396
|
|
NM_004577.3(PSPH):c.-708C>G
|
rs187219685
|
|
NM_004577.4(PSPH):c.*157C>T
|
rs1181829048
|
|
NM_004577.4(PSPH):c.*203T>C
|
rs997839370
|
|
NM_004577.4(PSPH):c.*233dup
|
rs34727399
|
|
NM_004577.4(PSPH):c.*46A>C
|
rs1787928354
|
|
NM_004577.4(PSPH):c.-228C>G
|
rs886062391
|
|
NM_004577.4(PSPH):c.-22A>G
|
rs1791057401
|
|
NM_004577.4(PSPH):c.-235_-213delinsC
|
rs886062390
|
|
NM_004577.4(PSPH):c.-333C>T
|
rs886062392
|
|
NM_004577.4(PSPH):c.-396C>G
|
rs1489692450
|
|
NM_004577.4(PSPH):c.-430T>G
|
rs886062393
|
|
NM_004577.4(PSPH):c.-519C>G
|
rs886062395
|
|
NM_004577.4(PSPH):c.-94G>A
|
rs1440086288
|
|
NM_004577.4(PSPH):c.276-2A>G
|
|
|
NM_004577.4(PSPH):c.276G>A (p.Arg92=)
|
rs2116569669
|
|
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)
|
|
|
NM_004577.4(PSPH):c.305A>G (p.Asn102Ser)
|
rs1562786740
|
|
NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe)
|
rs2116568545
|
|
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu)
|
rs1295914487
|
|
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
|
|
|
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp)
|
rs766126853
|
|
NM_004577.4(PSPH):c.353A>G (p.His118Arg)
|
|
|
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)
|
|
|
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)
|
|
|
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
|
|
|
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
|
|
|
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
|
|
|
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
|
|
|
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)
|
|
|
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg)
|
rs2116514675
|
|
NM_004577.4(PSPH):c.484A>G (p.Ile162Val)
|
|
|
NM_004577.4(PSPH):c.509A>G (p.His170Arg)
|
rs1788401716
|
|
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
|
|
|
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
|
|
|
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
|
|
|
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)
|
rs2116425690
|
|
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)
|
rs536712417
|
|