NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)
|
rs79509460
|
0.00165
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_000293.3(PHKB):c.1458+16A>G
|
rs371140883
|
0.00093
|
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)
|
rs56010117
|
0.00087
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_000293.3(PHKB):c.1803G>A (p.Ala601=)
|
rs35690654
|
0.00048
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
|
rs149983469
|
0.00037
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
NM_000293.3(PHKB):c.2766-7G>A
|
rs199719186
|
0.00026
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
NM_000293.3(PHKB):c.2445T>C (p.Phe815=)
|
rs61494991
|
0.00017
|
NM_000293.3(PHKB):c.1609-20T>C
|
rs374125947
|
0.00016
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)
|
rs140636792
|
0.00011
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000293.3(PHKB):c.1798-20T>C
|
rs758115079
|
0.00009
|
NM_000293.3(PHKB):c.2427+969C>T
|
rs1131063
|
0.00009
|
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys)
|
rs202167409
|
0.00009
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000293.3(PHKB):c.321C>T (p.Asp107=)
|
rs148782229
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000293.3(PHKB):c.1599G>A (p.Glu533=)
|
rs756341301
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
|
rs201038140
|
0.00005
|
NM_000293.3(PHKB):c.306-15A>G
|
rs372436374
|
0.00005
|
NM_000293.3(PHKB):c.258C>T (p.Asp86=)
|
rs147357783
|
0.00004
|
NM_000293.3(PHKB):c.2689T>C (p.Leu897=)
|
rs369059693
|
0.00004
|
NM_000293.3(PHKB):c.2958G>A (p.Thr986=)
|
rs748651257
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000293.3(PHKB):c.775-10C>G
|
rs753672973
|
0.00004
|
NM_000293.3(PHKB):c.775-8C>G
|
rs780221944
|
0.00004
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
NM_000293.3(PHKB):c.2343G>A (p.Ala781=)
|
rs764952326
|
0.00003
|
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=)
|
rs570705767
|
0.00003
|
NM_000293.3(PHKB):c.2856G>A (p.Thr952=)
|
rs191428598
|
0.00003
|
NM_000293.3(PHKB):c.305+10T>G
|
rs763432163
|
0.00003
|
NM_000293.3(PHKB):c.447T>C (p.Leu149=)
|
rs374963473
|
0.00003
|
NM_000293.3(PHKB):c.870+7C>T
|
rs372819242
|
0.00003
|
NM_000293.3(PHKB):c.2544C>T (p.Val848=)
|
rs200981011
|
0.00002
|
NM_000293.3(PHKB):c.282C>T (p.Ala94=)
|
rs372209609
|
0.00002
|
NM_000293.3(PHKB):c.678A>G (p.Lys226=)
|
rs762504730
|
0.00002
|
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
|
rs78667243
|
0.00001
|
NM_000293.3(PHKB):c.1204+12T>G
|
rs1972080009
|
0.00001
|
NM_000293.3(PHKB):c.1514+18G>C
|
rs760376574
|
0.00001
|
NM_000293.3(PHKB):c.1716T>C (p.Thr572=)
|
rs746052855
|
0.00001
|
NM_000293.3(PHKB):c.1740C>T (p.Phe580=)
|
rs1279199570
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
NM_000293.3(PHKB):c.1972-8C>T
|
rs759445171
|
0.00001
|
NM_000293.3(PHKB):c.1977A>T (p.Leu659=)
|
rs758601628
|
0.00001
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
NM_000293.3(PHKB):c.2382C>T (p.Ser794=)
|
rs1463366667
|
0.00001
|
NM_000293.3(PHKB):c.2676A>G (p.Gly892=)
|
rs756848227
|
0.00001
|
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=)
|
rs149234185
|
0.00001
|
NM_000293.3(PHKB):c.710+7T>G
|
rs976138000
|
0.00001
|
NM_000293.3(PHKB):c.77-7del
|
rs754758968
|
0.00001
|
NM_000293.3(PHKB):c.1011G>T (p.Gly337=)
|
|
|
NM_000293.3(PHKB):c.1023A>G (p.Ser341=)
|
|
|
NM_000293.3(PHKB):c.1024T>C (p.Leu342=)
|
|
|
NM_000293.3(PHKB):c.1029A>G (p.Glu343=)
|
|
|
NM_000293.3(PHKB):c.105T>C (p.Ile35=)
|
|
|
NM_000293.3(PHKB):c.1068+13A>C
|
|
|
NM_000293.3(PHKB):c.1068+19T>C
|
|
|
NM_000293.3(PHKB):c.1069-10T>C
|
|
|
NM_000293.3(PHKB):c.1069-15T>C
|
|
|
NM_000293.3(PHKB):c.1069-9C>G
|
|
|
NM_000293.3(PHKB):c.1071A>G (p.Leu357=)
|
|
|
NM_000293.3(PHKB):c.1098C>T (p.Pro366=)
|
|
|
NM_000293.3(PHKB):c.1126+11T>C
|
|
|
NM_000293.3(PHKB):c.1126+1GTAA[3]
|
|
|
NM_000293.3(PHKB):c.1126+30_1126+52del
|
rs558528097
|
|
NM_000293.3(PHKB):c.1126+8A>G
|
|
|
NM_000293.3(PHKB):c.1126+9G>A
|
|
|
NM_000293.3(PHKB):c.1127-7A>G
|
|
|
NM_000293.3(PHKB):c.1134T>C (p.Phe378=)
|
|
|
NM_000293.3(PHKB):c.1179T>A (p.Thr393=)
|
rs2151700466
|
|
NM_000293.3(PHKB):c.1185A>G (p.Val395=)
|
|
|
NM_000293.3(PHKB):c.1197C>T (p.Thr399=)
|
|
|
NM_000293.3(PHKB):c.1204+11T>C
|
|
|
NM_000293.3(PHKB):c.1204+16T>A
|
|
|
NM_000293.3(PHKB):c.1204+19G>T
|
|
|
NM_000293.3(PHKB):c.1204+7T>C
|
|
|
NM_000293.3(PHKB):c.1204+8dup
|
|
|
NM_000293.3(PHKB):c.1204+9G>A
|
|
|
NM_000293.3(PHKB):c.1205-12del
|
|
|
NM_000293.3(PHKB):c.1205-14T>G
|
|
|
NM_000293.3(PHKB):c.1205-4A>G
|
|
|
NM_000293.3(PHKB):c.1205-8C>T
|
|
|
NM_000293.3(PHKB):c.1212T>G (p.Pro404=)
|
|
|
NM_000293.3(PHKB):c.1236G>A (p.Val412=)
|
|
|
NM_000293.3(PHKB):c.1239A>C (p.Pro413=)
|
|
|
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=)
|
|
|
NM_000293.3(PHKB):c.126T>C (p.Asn42=)
|
|
|
NM_000293.3(PHKB):c.12G>C (p.Ala4=)
|
|
|
NM_000293.3(PHKB):c.1326T>C (p.Leu442=)
|
|
|
NM_000293.3(PHKB):c.1341T>G (p.Leu447=)
|
|
|
NM_000293.3(PHKB):c.1363+20A>G
|
|
|
NM_000293.3(PHKB):c.1364-11_1364-9del
|
|
|
NM_000293.3(PHKB):c.1364-11del
|
|
|
NM_000293.3(PHKB):c.1364-14C>G
|
|
|
NM_000293.3(PHKB):c.1364-16C>G
|
|
|
NM_000293.3(PHKB):c.1364-5T>C
|
|
|
NM_000293.3(PHKB):c.1374T>C (p.Leu458=)
|
|
|
NM_000293.3(PHKB):c.1380T>C (p.Ser460=)
|
|
|
NM_000293.3(PHKB):c.1389C>T (p.Asp463=)
|
|
|
NM_000293.3(PHKB):c.1404G>A (p.Gln468=)
|
|
|
NM_000293.3(PHKB):c.1413C>G (p.Val471=)
|
|
|
NM_000293.3(PHKB):c.1428A>G (p.Gln476=)
|
|
|
NM_000293.3(PHKB):c.1431T>C (p.Arg477=)
|
|
|
NM_000293.3(PHKB):c.1434C>T (p.Asn478=)
|
|
|
NM_000293.3(PHKB):c.1437G>A (p.Val479=)
|
|
|
NM_000293.3(PHKB):c.1458+10T>C
|
|
|
NM_000293.3(PHKB):c.1458+20C>A
|
|
|
NM_000293.3(PHKB):c.1459-10T>C
|
|
|
NM_000293.3(PHKB):c.1459-13T>C
|
|
|
NM_000293.3(PHKB):c.1459-17del
|
|
|
NM_000293.3(PHKB):c.1459-18C>G
|
|
|
NM_000293.3(PHKB):c.1459-5T>C
|
|
|
NM_000293.3(PHKB):c.1485T>C (p.Val495=)
|
|
|
NM_000293.3(PHKB):c.1514+11C>G
|
|
|
NM_000293.3(PHKB):c.1514+12A>T
|
|
|
NM_000293.3(PHKB):c.1514+20G>T
|
|
|
NM_000293.3(PHKB):c.1515-17A>G
|
|
|
NM_000293.3(PHKB):c.1515-8A>C
|
|
|
NM_000293.3(PHKB):c.1530G>T (p.Leu510=)
|
|
|
NM_000293.3(PHKB):c.1533C>T (p.Asn511=)
|
|
|
NM_000293.3(PHKB):c.1536A>G (p.Thr512=)
|
|
|
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=)
|
|
|
NM_000293.3(PHKB):c.1557T>C (p.Thr519=)
|
|
|
NM_000293.3(PHKB):c.1563A>G (p.Gln521=)
|
|
|
NM_000293.3(PHKB):c.1596G>A (p.Gln532=)
|
|
|
NM_000293.3(PHKB):c.1608+13G>A
|
|
|
NM_000293.3(PHKB):c.1608+13G>T
|
|
|
NM_000293.3(PHKB):c.1608+18T>C
|
|
|
NM_000293.3(PHKB):c.1609-14C>G
|
|
|
NM_000293.3(PHKB):c.1609-14C>T
|
|
|
NM_000293.3(PHKB):c.1609-17A>C
|
|
|
NM_000293.3(PHKB):c.1609-18C>T
|
|
|
NM_000293.3(PHKB):c.1609-19A>G
|
|
|
NM_000293.3(PHKB):c.1609-7C>A
|
|
|
NM_000293.3(PHKB):c.1609-9G>A
|
|
|
NM_000293.3(PHKB):c.1611T>G (p.Ala537=)
|
|
|
NM_000293.3(PHKB):c.1615T>C (p.Leu539=)
|
|
|
NM_000293.3(PHKB):c.1647C>T (p.Leu549=)
|
|
|
NM_000293.3(PHKB):c.1650T>A (p.Ser550=)
|
|
|
NM_000293.3(PHKB):c.1665G>A (p.Arg555=)
|
|
|
NM_000293.3(PHKB):c.167-4G>T
|
|
|
NM_000293.3(PHKB):c.167-8A>G
|
|
|
NM_000293.3(PHKB):c.167-8A>T
|
|
|
NM_000293.3(PHKB):c.1680C>G (p.Leu560=)
|
|
|
NM_000293.3(PHKB):c.1680C>T (p.Leu560=)
|
|
|
NM_000293.3(PHKB):c.1686A>G (p.Thr562=)
|
|
|
NM_000293.3(PHKB):c.1692+19C>T
|
|
|
NM_000293.3(PHKB):c.1692+20A>T
|
|
|
NM_000293.3(PHKB):c.1693-20T>G
|
|
|
NM_000293.3(PHKB):c.1693-4A>C
|
|
|
NM_000293.3(PHKB):c.1693-7C>T
|
|
|
NM_000293.3(PHKB):c.1693-8C>T
|
|
|
NM_000293.3(PHKB):c.1693-9C>T
|
|
|
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=)
|
|
|
NM_000293.3(PHKB):c.1707A>G (p.Leu569=)
|
|
|
NM_000293.3(PHKB):c.1731G>A (p.Pro577=)
|
|
|
NM_000293.3(PHKB):c.1731G>T (p.Pro577=)
|
|
|
NM_000293.3(PHKB):c.174A>T (p.Ser58=)
|
|
|
NM_000293.3(PHKB):c.1779G>T (p.Leu593=)
|
|
|
NM_000293.3(PHKB):c.1782G>A (p.Leu594=)
|
|
|
NM_000293.3(PHKB):c.1782G>T (p.Leu594=)
|
|
|
NM_000293.3(PHKB):c.1788T>C (p.Asp596=)
|
|
|
NM_000293.3(PHKB):c.1797+11A>G
|
|
|
NM_000293.3(PHKB):c.1797+12A>G
|
|
|
NM_000293.3(PHKB):c.1797+13C>T
|
|
|
NM_000293.3(PHKB):c.1797+19T>C
|
|
|
NM_000293.3(PHKB):c.1797+20C>T
|
|
|
NM_000293.3(PHKB):c.1798-19A>G
|
|
|
NM_000293.3(PHKB):c.1798-9G>C
|
|
|
NM_000293.3(PHKB):c.1800T>C (p.Asn600=)
|
|
|
NM_000293.3(PHKB):c.180G>A (p.Leu60=)
|
|
|
NM_000293.3(PHKB):c.1818A>G (p.Lys606=)
|
|
|
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)
|
|
|
NM_000293.3(PHKB):c.1845A>C (p.Pro615=)
|
|
|
NM_000293.3(PHKB):c.1860C>T (p.Leu620=)
|
|
|
NM_000293.3(PHKB):c.186G>A (p.Leu62=)
|
|
|
NM_000293.3(PHKB):c.186G>C (p.Leu62=)
|
|
|
NM_000293.3(PHKB):c.1880+11A>G
|
|
|
NM_000293.3(PHKB):c.1881-10T>C
|
|
|
NM_000293.3(PHKB):c.1881-11A>G
|
|
|
NM_000293.3(PHKB):c.1881-13_1881-10del
|
|
|
NM_000293.3(PHKB):c.1881-9A>G
|
|
|
NM_000293.3(PHKB):c.1887C>T (p.Ser629=)
|
|
|
NM_000293.3(PHKB):c.1893C>T (p.Phe631=)
|
|
|
NM_000293.3(PHKB):c.1899C>T (p.Pro633=)
|
|
|
NM_000293.3(PHKB):c.18A>T (p.Gly6=)
|
|
|
NM_000293.3(PHKB):c.1917A>G (p.Ala639=)
|
|
|
NM_000293.3(PHKB):c.1926A>G (p.Lys642=)
|
|
|
NM_000293.3(PHKB):c.1929A>G (p.Lys643=)
|
|
|
NM_000293.3(PHKB):c.1938T>C (p.Ile646=)
|
|
|
NM_000293.3(PHKB):c.1941A>T (p.Gly647=)
|
rs551223829
|
|
NM_000293.3(PHKB):c.1956T>C (p.His652=)
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1971+19G>A
|
|
|
NM_000293.3(PHKB):c.1972-11T>A
|
|
|
NM_000293.3(PHKB):c.1972-13G>A
|
|
|
NM_000293.3(PHKB):c.1972-13G>T
|
|
|
NM_000293.3(PHKB):c.1972-14C>T
|
|
|
NM_000293.3(PHKB):c.1972-9A>G
|
|
|
NM_000293.3(PHKB):c.198A>C (p.Pro66=)
|
|
|
NM_000293.3(PHKB):c.1992G>A (p.Val664=)
|
|
|
NM_000293.3(PHKB):c.1992G>T (p.Val664=)
|
|
|
NM_000293.3(PHKB):c.2019C>T (p.Ile673=)
|
|
|
NM_000293.3(PHKB):c.2033+11T>G
|
|
|
NM_000293.3(PHKB):c.2033+15G>A
|
|
|
NM_000293.3(PHKB):c.2034-10T>G
|
|
|
NM_000293.3(PHKB):c.2034-16T>C
|
|
|
NM_000293.3(PHKB):c.2034-19C>T
|
|
|
NM_000293.3(PHKB):c.2034-20C>A
|
|
|
NM_000293.3(PHKB):c.2046T>C (p.Phe682=)
|
|
|
NM_000293.3(PHKB):c.204C>G (p.Thr68=)
|
|
|
NM_000293.3(PHKB):c.2064A>G (p.Leu688=)
|
|
|
NM_000293.3(PHKB):c.2073C>T (p.Pro691=)
|
|
|
NM_000293.3(PHKB):c.2094G>A (p.Arg698=)
|
|
|
NM_000293.3(PHKB):c.2106C>A (p.Thr702=)
|
|
|
NM_000293.3(PHKB):c.2175C>T (p.His725=)
|
|
|
NM_000293.3(PHKB):c.2181T>C (p.Ile727=)
|
|
|
NM_000293.3(PHKB):c.2196+18C>T
|
|
|
NM_000293.3(PHKB):c.2196+19C>T
|
|
|
NM_000293.3(PHKB):c.2197-10A>G
|
|
|
NM_000293.3(PHKB):c.2197-14A>T
|
|
|
NM_000293.3(PHKB):c.2197-18C>G
|
|
|
NM_000293.3(PHKB):c.2197-18C>T
|
|
|
NM_000293.3(PHKB):c.219T>C (p.Thr73=)
|
|
|
NM_000293.3(PHKB):c.21C>T (p.Leu7=)
|
|
|
NM_000293.3(PHKB):c.2208T>C (p.Cys736=)
|
|
|
NM_000293.3(PHKB):c.2214T>C (p.Ala738=)
|
|
|
NM_000293.3(PHKB):c.2229G>A (p.Leu743=)
|
|
|
NM_000293.3(PHKB):c.2253A>G (p.Glu751=)
|
|
|
NM_000293.3(PHKB):c.2256C>T (p.Gly752=)
|
|
|
NM_000293.3(PHKB):c.2259C>T (p.Pro753=)
|
|
|
NM_000293.3(PHKB):c.225A>C (p.Thr75=)
|
|
|
NM_000293.3(PHKB):c.2278+11A>G
|
|
|
NM_000293.3(PHKB):c.2278+16T>C
|
|
|
NM_000293.3(PHKB):c.2278+8T>G
|
|
|
NM_000293.3(PHKB):c.2278+9G>T
|
rs1402083021
|
|
NM_000293.3(PHKB):c.2279-6G>A
|
|
|
NM_000293.3(PHKB):c.2279-7T>C
|
|
|
NM_000293.3(PHKB):c.2283C>A (p.Thr761=)
|
|
|
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
|
rs775960919
|
|
NM_000293.3(PHKB):c.228C>T (p.Cys76=)
|
|
|
NM_000293.3(PHKB):c.2295C>T (p.His765=)
|
|
|
NM_000293.3(PHKB):c.2301G>A (p.Glu767=)
|
|
|
NM_000293.3(PHKB):c.2331A>G (p.Lys777=)
|
|
|
NM_000293.3(PHKB):c.2336+13G>T
|
|
|
NM_000293.3(PHKB):c.2336+18T>C
|
|
|
NM_000293.3(PHKB):c.2336+19G>A
|
|
|
NM_000293.3(PHKB):c.2336+19G>T
|
|
|
NM_000293.3(PHKB):c.2336+22_2336+24del
|
|
|
NM_000293.3(PHKB):c.2337-12T>G
|
|
|
NM_000293.3(PHKB):c.2346G>A (p.Val782=)
|
|
|
NM_000293.3(PHKB):c.234T>C (p.Gly78=)
|
|
|
NM_000293.3(PHKB):c.2361A>G (p.Ala787=)
|
|
|
NM_000293.3(PHKB):c.2370G>A (p.Gln790=)
|
|
|
NM_000293.3(PHKB):c.2385T>C (p.Ser795=)
|
|
|
NM_000293.3(PHKB):c.2418T>C (p.His806=)
|
|
|
NM_000293.3(PHKB):c.2424A>G (p.Lys808=)
|
|
|
NM_000293.3(PHKB):c.2427+1017T>C
|
|
|
NM_000293.3(PHKB):c.2427+1021C>T
|
|
|
NM_000293.3(PHKB):c.2427+1024A>G
|
|
|
NM_000293.3(PHKB):c.2427+1034A>G
|
|
|
NM_000293.3(PHKB):c.2427+1051C>A
|
|
|
NM_000293.3(PHKB):c.2427+1053A>G
|
rs375085518
|
|
NM_000293.3(PHKB):c.2427+1064A>G
|
|
|
NM_000293.3(PHKB):c.2427+1068G>T
|
|
|
NM_000293.3(PHKB):c.2427+1069C>T
|
|
|
NM_000293.3(PHKB):c.2427+1071T>C
|
|
|
NM_000293.3(PHKB):c.2427+17T>C
|
|
|
NM_000293.3(PHKB):c.2427+947G>A
|
|
|
NM_000293.3(PHKB):c.2427+947G>C
|
|
|
NM_000293.3(PHKB):c.2427+952C>A
|
|
|
NM_000293.3(PHKB):c.2427+952C>G
|
|
|
NM_000293.3(PHKB):c.2427+959G>A
|
|
|
NM_000293.3(PHKB):c.2427+962C>A
|
|
|
NM_000293.3(PHKB):c.2427+962C>T
|
|
|
NM_000293.3(PHKB):c.2427+963C>G
|
|
|
NM_000293.3(PHKB):c.2427+964del
|
rs762091938
|
|
NM_000293.3(PHKB):c.2427+970G>A
|
|
|
NM_000293.3(PHKB):c.2427+977C>T
|
|
|
NM_000293.3(PHKB):c.2427+980C>T
|
|
|
NM_000293.3(PHKB):c.2427+981G>A
|
|
|
NM_000293.3(PHKB):c.2427+981G>T
|
|
|
NM_000293.3(PHKB):c.2427+986G>A
|
|
|
NM_000293.3(PHKB):c.2427+990G>A
|
|
|
NM_000293.3(PHKB):c.2428-11G>A
|
|
|
NM_000293.3(PHKB):c.2428-13C>A
|
|
|
NM_000293.3(PHKB):c.2428-13C>G
|
|
|
NM_000293.3(PHKB):c.2428-4G>T
|
|
|
NM_000293.3(PHKB):c.2430A>G (p.Val810=)
|
|
|
NM_000293.3(PHKB):c.2448G>A (p.Gly816=)
|
|
|
NM_000293.3(PHKB):c.2520C>T (p.Asn840=)
|
|
|
NM_000293.3(PHKB):c.2538A>G (p.Glu846=)
|
|
|
NM_000293.3(PHKB):c.2541G>A (p.Ala847=)
|
|
|
NM_000293.3(PHKB):c.2541G>C (p.Ala847=)
|
|
|
NM_000293.3(PHKB):c.2550G>A (p.Gln850=)
|
|
|
NM_000293.3(PHKB):c.2559G>C (p.Leu853=)
|
|
|
NM_000293.3(PHKB):c.2574C>A (p.Gly858=)
|
|
|
NM_000293.3(PHKB):c.2583C>A (p.Ile861=)
|
|
|
NM_000293.3(PHKB):c.2625A>C (p.Arg875=)
|
|
|
NM_000293.3(PHKB):c.2628C>T (p.Ile876=)
|
|
|
NM_000293.3(PHKB):c.2630+13del
|
|
|
NM_000293.3(PHKB):c.2630+17G>T
|
|
|
NM_000293.3(PHKB):c.2630+7G>A
|
|
|
NM_000293.3(PHKB):c.2631-14C>T
|
|
|
NM_000293.3(PHKB):c.2631-15C>T
|
|
|
NM_000293.3(PHKB):c.2631-16C>G
|
|
|
NM_000293.3(PHKB):c.2631-6T>A
|
|
|
NM_000293.3(PHKB):c.2637C>T (p.Ile879=)
|
|
|
NM_000293.3(PHKB):c.2652G>A (p.Glu884=)
|
|
|
NM_000293.3(PHKB):c.2667C>A (p.Ile889=)
|
|
|
NM_000293.3(PHKB):c.2709A>G (p.Ser903=)
|
|
|
NM_000293.3(PHKB):c.2745G>A (p.Leu915=)
|
|
|
NM_000293.3(PHKB):c.2760T>C (p.Asn920=)
|
|
|
NM_000293.3(PHKB):c.2765+10G>A
|
|
|
NM_000293.3(PHKB):c.2765+11C>A
|
|
|
NM_000293.3(PHKB):c.2765+11C>T
|
|
|
NM_000293.3(PHKB):c.2765+14C>G
|
|
|
NM_000293.3(PHKB):c.2765+14C>T
|
|
|
NM_000293.3(PHKB):c.2765+15T>C
|
|
|
NM_000293.3(PHKB):c.2765+7A>C
|
|
|
NM_000293.3(PHKB):c.2766-12C>T
|
|
|
NM_000293.3(PHKB):c.2766-14G>C
|
|
|
NM_000293.3(PHKB):c.2766-18A>G
|
|
|
NM_000293.3(PHKB):c.2766-5T>A
|
|
|
NM_000293.3(PHKB):c.2766-9T>C
|
|
|
NM_000293.3(PHKB):c.2778C>T (p.Asn926=)
|
|
|
NM_000293.3(PHKB):c.2790C>T (p.Ile930=)
|
|
|
NM_000293.3(PHKB):c.279G>A (p.Gly93=)
|
|
|
NM_000293.3(PHKB):c.27A>C (p.Ala9=)
|
|
|
NM_000293.3(PHKB):c.27A>G (p.Ala9=)
|
|
|
NM_000293.3(PHKB):c.2817C>T (p.Thr939=)
|
|
|
NM_000293.3(PHKB):c.2835G>A (p.Val945=)
|
|
|
NM_000293.3(PHKB):c.2856G>T (p.Thr952=)
|
|
|
NM_000293.3(PHKB):c.2871T>A (p.Ile957=)
|
|
|
NM_000293.3(PHKB):c.2895+13C>T
|
|
|
NM_000293.3(PHKB):c.2895+14A>G
|
|
|
NM_000293.3(PHKB):c.2895+15T>C
|
|
|
NM_000293.3(PHKB):c.2896-19G>A
|
|
|
NM_000293.3(PHKB):c.2901A>C (p.Pro967=)
|
|
|
NM_000293.3(PHKB):c.2907G>A (p.Leu969=)
|
|
|
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=)
|
|
|
NM_000293.3(PHKB):c.294T>A (p.Ala98=)
|
|
|
NM_000293.3(PHKB):c.2959T>C (p.Leu987=)
|
|
|
NM_000293.3(PHKB):c.2970T>C (p.Ile990=)
|
|
|
NM_000293.3(PHKB):c.297T>C (p.Leu99=)
|
|
|
NM_000293.3(PHKB):c.2982G>A (p.Gln994=)
|
|
|
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)
|
|
|
NM_000293.3(PHKB):c.2994C>T (p.Ile998=)
|
|
|
NM_000293.3(PHKB):c.3003+12G>A
|
|
|
NM_000293.3(PHKB):c.3003+12del
|
|
|
NM_000293.3(PHKB):c.3004-11G>C
|
|
|
NM_000293.3(PHKB):c.3004-18A>G
|
|
|
NM_000293.3(PHKB):c.3004-7C>G
|
|
|
NM_000293.3(PHKB):c.300A>G (p.Ala100=)
|
|
|
NM_000293.3(PHKB):c.3015T>G (p.Val1005=)
|
|
|
NM_000293.3(PHKB):c.3018A>G (p.Val1006=)
|
|
|
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=)
|
|
|
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=)
|
|
|
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
|
rs151222947
|
|
NM_000293.3(PHKB):c.305+13G>A
|
|
|
NM_000293.3(PHKB):c.305+20C>T
|
|
|
NM_000293.3(PHKB):c.305+21_305+23del
|
|
|
NM_000293.3(PHKB):c.305+7T>C
|
|
|
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=)
|
|
|
NM_000293.3(PHKB):c.306-15A>C
|
|
|
NM_000293.3(PHKB):c.306-4C>T
|
|
|
NM_000293.3(PHKB):c.3066A>G (p.Val1022=)
|
|
|
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=)
|
|
|
NM_000293.3(PHKB):c.307C>A (p.Arg103=)
|
|
|
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=)
|
|
|
NM_000293.3(PHKB):c.3144+11A>G
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insC
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insCT
|
|
|
NM_000293.3(PHKB):c.3144+23_3144+34del
|
|
|
NM_000293.3(PHKB):c.3144+24_3144+34del
|
|
|
NM_000293.3(PHKB):c.3144+7A>G
|
|
|
NM_000293.3(PHKB):c.3144+9A>G
|
|
|
NM_000293.3(PHKB):c.3145-14G>A
|
|
|
NM_000293.3(PHKB):c.3145-15dup
|
|
|
NM_000293.3(PHKB):c.3145-20C>A
|
|
|
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)
|
|
|
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=)
|
|
|
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=)
|
|
|
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=)
|
|
|
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=)
|
|
|
NM_000293.3(PHKB):c.330G>A (p.Arg110=)
|
|
|
NM_000293.3(PHKB):c.363C>T (p.Cys121=)
|
|
|
NM_000293.3(PHKB):c.381C>T (p.Tyr127=)
|
|
|
NM_000293.3(PHKB):c.38G>A (p.Trp13Ter)
|
|
|
NM_000293.3(PHKB):c.399C>T (p.Ala133=)
|
|
|
NM_000293.3(PHKB):c.405+10T>G
|
|
|
NM_000293.3(PHKB):c.405+11G>T
|
|
|
NM_000293.3(PHKB):c.405+14G>A
|
|
|
NM_000293.3(PHKB):c.405+15T>C
|
|
|
NM_000293.3(PHKB):c.405+16G>T
|
|
|
NM_000293.3(PHKB):c.405+19G>A
|
|
|
NM_000293.3(PHKB):c.405+7C>T
|
|
|
NM_000293.3(PHKB):c.405+8A>G
|
|
|
NM_000293.3(PHKB):c.405+9T>A
|
|
|
NM_000293.3(PHKB):c.405+9T>C
|
|
|
NM_000293.3(PHKB):c.406-14A>G
|
|
|
NM_000293.3(PHKB):c.42G>A (p.Lys14=)
|
|
|
NM_000293.3(PHKB):c.432C>T (p.Arg144=)
|
|
|
NM_000293.3(PHKB):c.438A>G (p.Thr146=)
|
|
|
NM_000293.3(PHKB):c.441A>T (p.Thr147=)
|
|
|
NM_000293.3(PHKB):c.444T>C (p.Cys148=)
|
|
|
NM_000293.3(PHKB):c.45C>T (p.Val15=)
|
|
|
NM_000293.3(PHKB):c.474A>G (p.Gly158=)
|
|
|
NM_000293.3(PHKB):c.513+11A>G
|
|
|
NM_000293.3(PHKB):c.513+14A>T
|
|
|
NM_000293.3(PHKB):c.513+17C>T
|
|
|
NM_000293.3(PHKB):c.514-12T>C
|
|
|
NM_000293.3(PHKB):c.514-19_514-15del
|
|
|
NM_000293.3(PHKB):c.525G>A (p.Val175=)
|
|
|
NM_000293.3(PHKB):c.543C>T (p.Tyr181=)
|
|
|
NM_000293.3(PHKB):c.546T>G (p.Leu182=)
|
|
|
NM_000293.3(PHKB):c.570C>A (p.Leu190=)
|
|
|
NM_000293.3(PHKB):c.594+10C>T
|
|
|
NM_000293.3(PHKB):c.594+9T>C
|
|
|
NM_000293.3(PHKB):c.595-13C>A
|
|
|
NM_000293.3(PHKB):c.595-18C>T
|
|
|
NM_000293.3(PHKB):c.595-6T>C
|
|
|
NM_000293.3(PHKB):c.595-7C>A
|
|
|
NM_000293.3(PHKB):c.597C>T (p.Val199=)
|
|
|
NM_000293.3(PHKB):c.615T>C (p.Leu205=)
|
|
|
NM_000293.3(PHKB):c.618A>G (p.Val206=)
|
|
|
NM_000293.3(PHKB):c.636T>C (p.Val212=)
|
|
|
NM_000293.3(PHKB):c.642T>C (p.Arg214=)
|
|
|
NM_000293.3(PHKB):c.645G>T (p.Val215=)
|
|
|
NM_000293.3(PHKB):c.66C>T (p.Thr22=)
|
|
|
NM_000293.3(PHKB):c.672A>G (p.Gly224=)
|
|
|
NM_000293.3(PHKB):c.687T>C (p.Asn229=)
|
|
|
NM_000293.3(PHKB):c.696A>G (p.Thr232=)
|
|
|
NM_000293.3(PHKB):c.6G>C (p.Ala2=)
|
|
|
NM_000293.3(PHKB):c.6G>T (p.Ala2=)
|
|
|
NM_000293.3(PHKB):c.708G>A (p.Ser236=)
|
|
|
NM_000293.3(PHKB):c.710+14T>A
|
|
|
NM_000293.3(PHKB):c.710+19A>C
|
|
|
NM_000293.3(PHKB):c.710+20G>A
|
|
|
NM_000293.3(PHKB):c.710+20G>T
|
|
|
NM_000293.3(PHKB):c.711-10T>C
|
|
|
NM_000293.3(PHKB):c.711-12T>A
|
|
|
NM_000293.3(PHKB):c.711-4T>C
|
|
|
NM_000293.3(PHKB):c.714G>T (p.Ser238=)
|
rs772326970
|
|
NM_000293.3(PHKB):c.720T>C (p.Gly240=)
|
|
|
NM_000293.3(PHKB):c.72C>T (p.Arg24=)
|
|
|
NM_000293.3(PHKB):c.735T>C (p.Ala245=)
|
|
|
NM_000293.3(PHKB):c.738A>G (p.Leu246=)
|
|
|
NM_000293.3(PHKB):c.744A>C (p.Ala248=)
|
|
|
NM_000293.3(PHKB):c.76+10G>T
|
|
|
NM_000293.3(PHKB):c.76+15G>T
|
|
|
NM_000293.3(PHKB):c.76+18G>A
|
|
|
NM_000293.3(PHKB):c.76+20C>T
|
|
|
NM_000293.3(PHKB):c.76+2527T>A
|
|
|
NM_000293.3(PHKB):c.76+2530T>G
|
|
|
NM_000293.3(PHKB):c.76+2533A>C
|
|
|
NM_000293.3(PHKB):c.76+2542T>C
|
|
|
NM_000293.3(PHKB):c.76+2544C>T
|
|
|
NM_000293.3(PHKB):c.76+2545G>C
|
|
|
NM_000293.3(PHKB):c.76+2551C>T
|
|
|
NM_000293.3(PHKB):c.76+2562G>C
|
|
|
NM_000293.3(PHKB):c.76+2568G>A
|
|
|
NM_000293.3(PHKB):c.76+2574G>C
|
|
|
NM_000293.3(PHKB):c.76+2575T>G
|
|
|
NM_000293.3(PHKB):c.76+2584C>A
|
|
|
NM_000293.3(PHKB):c.76+2585C>G
|
|
|
NM_000293.3(PHKB):c.76+2586A>G
|
|
|
NM_000293.3(PHKB):c.76+8T>A
|
|
|
NM_000293.3(PHKB):c.77-17T>C
|
|
|
NM_000293.3(PHKB):c.77-18T>C
|
|
|
NM_000293.3(PHKB):c.77-8T>C
|
|
|
NM_000293.3(PHKB):c.774+12G>A
|
|
|
NM_000293.3(PHKB):c.774+16C>T
|
|
|
NM_000293.3(PHKB):c.774+20G>A
|
|
|
NM_000293.3(PHKB):c.775-15T>G
|
|
|
NM_000293.3(PHKB):c.775-17T>G
|
|
|
NM_000293.3(PHKB):c.775-20T>G
|
|
|
NM_000293.3(PHKB):c.775-7T>C
|
|
|
NM_000293.3(PHKB):c.783G>A (p.Ser261=)
|
|
|
NM_000293.3(PHKB):c.798T>C (p.Phe266=)
|
|
|
NM_000293.3(PHKB):c.807C>T (p.Leu269=)
|
|
|
NM_000293.3(PHKB):c.81A>C (p.Ser27=)
|
|
|
NM_000293.3(PHKB):c.843G>A (p.Ser281=)
|
|
|
NM_000293.3(PHKB):c.870+12A>C
|
|
|
NM_000293.3(PHKB):c.870+15_870+17del
|
|
|
NM_000293.3(PHKB):c.871-20C>T
|
|
|
NM_000293.3(PHKB):c.871-5T>A
|
|
|
NM_000293.3(PHKB):c.871-5T>C
|
|
|
NM_000293.3(PHKB):c.871-7C>T
|
|
|
NM_000293.3(PHKB):c.871-8G>T
|
|
|
NM_000293.3(PHKB):c.876A>G (p.Thr292=)
|
|
|
NM_000293.3(PHKB):c.886C>T (p.Leu296=)
|
|
|
NM_000293.3(PHKB):c.906T>C (p.Tyr302=)
|
|
|
NM_000293.3(PHKB):c.921G>A (p.Leu307=)
|
|
|
NM_000293.3(PHKB):c.951T>C (p.Leu317=)
|
|
|