NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_007254.4(PNKP):c.1196T>C (p.Leu399Pro)
|
rs766816785
|
0.00008
|
NM_007254.4(PNKP):c.1126+3_1126+4dup
|
rs750550558
|
0.00006
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.603dup (p.Lys202Ter)
|
rs796052859
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp)
|
rs748365843
|
0.00003
|
NM_007254.4(PNKP):c.1387-2A>G
|
rs766419491
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1188+1G>A
|
rs1057518102
|
0.00001
|
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter)
|
rs372404688
|
0.00001
|
NM_007254.4(PNKP):c.1215dup (p.Val406fs)
|
rs1389034284
|
0.00001
|
NM_007254.4(PNKP):c.1298+1_1298+10del
|
rs1568658916
|
0.00001
|
NM_007254.4(PNKP):c.229C>T (p.Gln77Ter)
|
rs1568662343
|
0.00001
|
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
|
rs796052850
|
0.00001
|
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
|
|
|
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs)
|
rs1131691883
|
|
NM_007254.4(PNKP):c.1029+1G>A
|
rs959497903
|
|
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
|
|
|
NM_007254.4(PNKP):c.1126+1G>C
|
|
|
NM_007254.4(PNKP):c.1127-1_1127delinsAA
|
rs2122324210
|
|
NM_007254.4(PNKP):c.1188+1del
|
|
|
NM_007254.4(PNKP):c.1189_1237dup (p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer)
|
rs1555810891
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1225T>C (p.Cys409Arg)
|
rs1338672803
|
|
NM_007254.4(PNKP):c.1230_1231del (p.Glu410fs)
|
rs1064794452
|
|
NM_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs)
|
rs730882224
|
|
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)
|
rs768847609
|
|
NM_007254.4(PNKP):c.1267_1286dup (p.Ser430fs)
|
|
|
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)
|
rs764379536
|
|
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
|
|
|
NM_007254.4(PNKP):c.1287_1298+1dup
|
rs1555810849
|
|
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs)
|
rs796052860
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1296_1298+13del
|
|
|
NM_007254.4(PNKP):c.1298+1G>A
|
rs149614720
|
|
NM_007254.4(PNKP):c.1306_1307del (p.Gln436fs)
|
rs2122319377
|
|
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)
|
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007254.4(PNKP):c.1366C>T (p.Gln456Ter)
|
|
|
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del)
|
rs796052863
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1386+1G>C
|
rs1057520630
|
|
NM_007254.4(PNKP):c.1401_1404del (p.Asp468fs)
|
rs2122317324
|
|
NM_007254.4(PNKP):c.1462dup (p.Ala488fs)
|
rs1343679884
|
|
NM_007254.4(PNKP):c.152-2A>C
|
|
|
NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)
|
rs760131892
|
|
NM_007254.4(PNKP):c.199-2A>G
|
rs1391913873
|
|
NM_007254.4(PNKP):c.199-8_199-5del
|
rs751037387
|
|
NM_007254.4(PNKP):c.23del (p.Gly8fs)
|
rs1600423552
|
|
NM_007254.4(PNKP):c.265dup (p.Val89fs)
|
rs879255541
|
|
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
|
|
|
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.636+1G>C
|
rs1247055716
|
|
NM_007254.4(PNKP):c.63dup (p.Ile22fs)
|
rs1568663209
|
|
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)
|
rs982113263
|
|
NM_007254.4(PNKP):c.744+1G>C
|
|
|
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
|
|
|
NM_007254.4(PNKP):c.838del (p.Ser280fs)
|
rs2074787192
|
|
NM_007254.4(PNKP):c.865+1G>T
|
|
|
NM_007254.4(PNKP):c.937-2A>G
|
rs1568660279
|
|