NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_007254.4(PNKP):c.678G>A (p.Lys226=)
|
rs141969535
|
0.00021
|
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)
|
rs770775129
|
0.00019
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_007254.4(PNKP):c.885C>T (p.Ala295=)
|
rs763725051
|
0.00010
|
NM_007254.4(PNKP):c.822C>T (p.Asn274=)
|
rs780677866
|
0.00009
|
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly)
|
rs563918674
|
0.00006
|
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg)
|
rs567905136
|
0.00006
|
NM_007254.4(PNKP):c.1126+7G>A
|
rs368201882
|
0.00005
|
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
|
rs766589333
|
0.00004
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007254.4(PNKP):c.366C>T (p.Thr122=)
|
rs145274731
|
0.00003
|
NM_007254.4(PNKP):c.789G>A (p.Thr263=)
|
rs768661843
|
0.00003
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
NM_007254.4(PNKP):c.936+6G>A
|
rs751664776
|
0.00002
|
NM_007254.4(PNKP):c.1212C>T (p.Arg404=)
|
rs775042023
|
0.00001
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
|
rs571119317
|
0.00001
|
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)
|
rs398124249
|
0.00001
|
NM_007254.4(PNKP):c.1035T>C (p.Thr345=)
|
|
|
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro)
|
rs781551273
|
|
NM_007254.4(PNKP):c.1170A>G (p.Gly390=)
|
rs1064796440
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
NM_007254.4(PNKP):c.1217T>A (p.Val406Glu)
|
rs141938129
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1295_1298+20dup
|
rs2074766354
|
|
NM_007254.4(PNKP):c.1295_1298+3del
|
|
|
NM_007254.4(PNKP):c.1299G>A (p.Arg433=)
|
|
|
NM_007254.4(PNKP):c.1311T>C (p.Cys437=)
|
|
|
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)
|
rs565533397
|
|
NM_007254.4(PNKP):c.1386+49_1387-33del
|
rs752902474
|
|
NM_007254.4(PNKP):c.1387-39del
|
rs2122317908
|
|
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer)
|
rs1443873131
|
|
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)
|
rs60279874
|
|
NM_007254.4(PNKP):c.1510del (p.Arg504fs)
|
rs771489173
|
|
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)
|
rs760131892
|
|
NM_007254.4(PNKP):c.216A>C (p.Ser72=)
|
|
|
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
|
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.337G>T (p.Glu113Ter)
|
rs11671530
|
|
NM_007254.4(PNKP):c.352A>T (p.Thr118Ser)
|
rs1414544372
|
|
NM_007254.4(PNKP):c.399T>G (p.Ala133=)
|
|
|
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg)
|
rs751327913
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
NM_007254.4(PNKP):c.838del (p.Ser280fs)
|
rs2074787192
|
|
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys)
|
rs755967508
|
|