NM_007254.4(PNKP):c.498+23A>T
|
rs1290649
|
0.39505
|
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.636+7G>A
|
rs3739187
|
0.00154
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_007254.4(PNKP):c.1298+6G>A
|
rs578207030
|
0.00010
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
|
rs768567927
|
0.00006
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)
|
rs786203983
|
0.00004
|
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
0.00003
|
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
|
rs1028247558
|
0.00002
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.148C>G (p.Gln50Glu)
|
rs756746191
|
0.00001
|
NM_007254.4(PNKP):c.499-7A>C
|
rs909512959
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
0.00001
|
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)
|
rs768567927
|
|
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
|
rs1473117442
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)
|
rs1477525034
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)
|
rs1568663138
|
|
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs)
|
rs886037744
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs)
|
rs1555810613
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)
|
rs982113263
|
|
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)
|
rs2074784919
|
|