NM_004577.4(PSPH):c.650T>C (p.Val217Ala)
|
rs73343752
|
0.00788
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
NM_004577.4(PSPH):c.422-3A>C
|
rs376149020
|
0.00014
|
NM_004577.4(PSPH):c.624C>T (p.Asn208=)
|
rs146008713
|
0.00011
|
NM_004577.4(PSPH):c.354T>C (p.His118=)
|
rs373775129
|
0.00009
|
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)
|
rs536712417
|
0.00009
|
NM_004577.4(PSPH):c.346G>A (p.Val116Ile)
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rs751400364
|
0.00005
|
NM_004577.4(PSPH):c.420C>T (p.Asn140=)
|
rs146276460
|
0.00005
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
NM_004577.4(PSPH):c.447G>A (p.Thr149=)
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rs143341199
|
0.00004
|
NM_004577.4(PSPH):c.570+5G>C
|
rs373367280
|
0.00004
|
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser)
|
rs761409780
|
0.00003
|
NM_004577.4(PSPH):c.422-14A>G
|
rs749619757
|
0.00002
|
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.289C>T (p.Arg97Cys)
|
rs754344374
|
0.00001
|
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser)
|
rs771251320
|
0.00001
|
NM_004577.4(PSPH):c.414C>T (p.Tyr138=)
|
rs756554508
|
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.506T>C (p.Phe169Ser)
|
rs1253579440
|
0.00001
|
NM_004577.4(PSPH):c.542C>T (p.Ala181Val)
|
rs527489732
|
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.609A>G (p.Gln203=)
|
rs752178752
|
0.00001
|
NM_004577.4(PSPH):c.615C>T (p.Val205=)
|
rs1335846307
|
0.00001
|
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys)
|
rs935820820
|
0.00001
|
NC_000007.13:g.(?_56079455)_(56082884_?)del
|
|
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NC_000007.13:g.(?_56079455)_(56085092_?)del
|
|
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NC_000007.13:g.(?_56079455)_(56085092_?)dup
|
|
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NC_000007.13:g.(?_56079455)_(56174106_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56174106_?)dup
|
|
|
NM_004577.4(PSPH):c.276-14A>G
|
|
|
NM_004577.4(PSPH):c.276-17T>C
|
|
|
NM_004577.4(PSPH):c.276-20T>G
|
|
|
NM_004577.4(PSPH):c.276-2A>G
|
|
|
NM_004577.4(PSPH):c.276-4G>C
|
|
|
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.339G>A (p.Arg113=)
|
rs2116568145
|
|
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
|
|
|
NM_004577.4(PSPH):c.351G>A (p.Glu117=)
|
|
|
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.369C>T (p.Leu123=)
|
rs773338634
|
|
NM_004577.4(PSPH):c.372T>C (p.Asn124=)
|
|
|
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
|
|
|
NM_004577.4(PSPH):c.390A>G (p.Val130=)
|
|
|
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
|
|
|
NM_004577.4(PSPH):c.408A>G (p.Lys136=)
|
|
|
NM_004577.4(PSPH):c.421+12A>T
|
rs2116565444
|
|
NM_004577.4(PSPH):c.421+20A>G
|
|
|
NM_004577.4(PSPH):c.421+20A>T
|
|
|
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
|
|
|
NM_004577.4(PSPH):c.422-14A>C
|
rs749619757
|
|
NM_004577.4(PSPH):c.422-4T>G
|
|
|
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
|
|
|
NM_004577.4(PSPH):c.432A>C (p.Ala144=)
|
|
|
NM_004577.4(PSPH):c.441T>C (p.Asp147=)
|
|
|
NM_004577.4(PSPH):c.450G>A (p.Gln150=)
|
rs2116515322
|
|
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.489A>G (p.Lys163=)
|
rs2116514516
|
|
NM_004577.4(PSPH):c.509A>G (p.His170Arg)
|
rs1788401716
|
|
NM_004577.4(PSPH):c.540T>C (p.Gly180=)
|
|
|
NM_004577.4(PSPH):c.549T>C (p.Asp183=)
|
|
|
NM_004577.4(PSPH):c.570+12G>C
|
|
|
NM_004577.4(PSPH):c.570+14G>A
|
|
|
NM_004577.4(PSPH):c.570+19A>G
|
rs2116512576
|
|
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
|
|
|
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
|
|
|
NM_004577.4(PSPH):c.604A>C (p.Arg202=)
|
|
|
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
|
|
|
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)
|
rs2116425690
|
|
NM_004577.4(PSPH):c.651A>G (p.Val217=)
|
|
|
NM_004577.4(PSPH):c.672A>G (p.Glu224=)
|
|
|
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)
|
rs536712417
|
|