NM_000293.3(PHKB):c.*1001del
|
rs775113534
|
0.03023
|
NM_000293.3(PHKB):c.*1001G>A
|
rs868394484
|
0.00997
|
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.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_000293.3(PHKB):c.*2075G>A
|
rs189124531
|
0.00087
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
|
rs201360702
|
0.00048
|
NM_000293.3(PHKB):c.*279C>T
|
rs140112731
|
0.00035
|
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.1631A>G (p.Asn544Ser)
|
rs139383341
|
0.00029
|
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)
|
rs137946010
|
0.00024
|
NM_000293.3(PHKB):c.*132G>A
|
rs375856403
|
0.00019
|
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.*323G>C
|
rs886052024
|
0.00018
|
NM_000293.3(PHKB):c.*991A>G
|
rs951718946
|
0.00014
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)
|
rs762531075
|
0.00013
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
NM_000293.3(PHKB):c.*741G>A
|
rs1041235488
|
0.00011
|
NM_000293.3(PHKB):c.*345C>T
|
rs757393313
|
0.00010
|
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys)
|
rs201217052
|
0.00010
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000293.3(PHKB):c.*1783A>G
|
rs886052032
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000293.3(PHKB):c.*1839C>G
|
rs981081630
|
0.00006
|
NM_000293.3(PHKB):c.*1915A>G
|
rs919228154
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
|
rs370363309
|
0.00006
|
NM_000293.3(PHKB):c.*1709G>A
|
rs1007478681
|
0.00005
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)
|
rs147021608
|
0.00004
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000293.3(PHKB):c.*349C>T
|
rs886052025
|
0.00001
|
NM_000293.3(PHKB):c.*595G>A
|
rs563945926
|
0.00001
|
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
|
rs745821795
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
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.370G>C (p.Gly124Arg)
|
rs749597903
|
0.00001
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
NM_000293.3(PHKB):c.77-7del
|
rs754758968
|
0.00001
|
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
|
rs143805637
|
0.00001
|
NM_000293.3(PHKB):c.*1000del
|
rs11299370
|
|
NM_000293.3(PHKB):c.*1007G>A
|
rs1047494618
|
|
NM_000293.3(PHKB):c.*1105T>C
|
rs1365256572
|
|
NM_000293.3(PHKB):c.*1253A>G
|
rs1974232128
|
|
NM_000293.3(PHKB):c.*1262A>C
|
rs886052030
|
|
NM_000293.3(PHKB):c.*1311dup
|
rs886052031
|
|
NM_000293.3(PHKB):c.*2104T>C
|
rs886052033
|
|
NM_000293.3(PHKB):c.*221C>T
|
rs1974213779
|
|
NM_000293.3(PHKB):c.*358_*360del
|
rs886052026
|
|
NM_000293.3(PHKB):c.*405G>T
|
rs1597192442
|
|
NM_000293.3(PHKB):c.*523T>C
|
rs886052027
|
|
NM_000293.3(PHKB):c.*610TA[1]
|
rs201839105
|
|
NM_000293.3(PHKB):c.*982del
|
rs886052029
|
|
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
|
rs1972067736
|
|
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
|
rs1372877925
|
|
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
|
rs1973024428
|
|
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr)
|
rs886052022
|
|
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val)
|
rs192099645
|
|
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
|
rs756158798
|
|
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
|
rs1597159344
|
|
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg)
|
rs886052023
|
|
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
|
rs766073838
|
|
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
|
rs1974096940
|
|
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
|
rs1974189408
|
|
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
|
rs375008974
|
|
NM_000293.3(PHKB):c.3144+12_3144+13insT
|
rs757614728
|
|
NM_000293.3(PHKB):c.3144+12dup
|
rs1555500966
|
|
NM_000293.3(PHKB):c.3144+32_3144+34dup
|
rs5816579
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
NM_000293.3(PHKB):c.703C>T (p.His235Tyr)
|
rs886052021
|
|
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
|
rs748242735
|
|
NM_000293.3(PHKB):c.716T>C (p.Val239Ala)
|
rs761032231
|
|