NC_000019.10:g.49861166T>C
|
rs3739209
|
0.02216
|
NM_007254.4(PNKP):c.1386+42T>C
|
rs760544069
|
0.01733
|
NM_007254.4(PNKP):c.152-85A>G
|
rs3739172
|
0.01593
|
NC_000019.10:g.49867667G>C
|
rs184460530
|
0.01520
|
NM_007254.4(PNKP):c.817-251C>T
|
rs112722530
|
0.01228
|
NM_007254.4(PNKP):c.1188+47C>T
|
rs146492255
|
0.00992
|
NM_007254.4(PNKP):c.744+81G>A
|
rs150731099
|
0.00880
|
NM_007254.4(PNKP):c.498+233G>T
|
rs79622873
|
0.00778
|
NM_007254.4(PNKP):c.745-99C>A
|
rs3739189
|
0.00692
|
NM_007254.4(PNKP):c.1387-47T>C
|
rs774469519
|
0.00649
|
NM_007254.4(PNKP):c.817-254G>A
|
rs149651968
|
0.00526
|
NM_007254.4(PNKP):c.152-111A>G
|
rs115684885
|
0.00493
|
NM_007254.4(PNKP):c.199-200_199-193del
|
rs1384612644
|
0.00455
|
NM_007254.4(PNKP):c.1029+27T>G
|
rs765967267
|
0.00409
|
NM_007254.4(PNKP):c.198+96T>C
|
rs3739174
|
0.00349
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_007254.4(PNKP):c.-35T>C
|
rs550311179
|
0.00021
|
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)
|
rs770775129
|
0.00019
|
NM_007254.4(PNKP):c.198+9G>A
|
rs370222304
|
0.00019
|
NM_007254.4(PNKP):c.1448+13A>G
|
rs748882543
|
0.00014
|
NM_007254.4(PNKP):c.1298+2_1298+5dup
|
rs776617733
|
0.00013
|
NM_007254.4(PNKP):c.-13-12C>T
|
rs377123873
|
0.00011
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_007254.4(PNKP):c.*17C>T
|
rs374836478
|
0.00010
|
NM_007254.4(PNKP):c.579-18G>A
|
rs199541652
|
0.00009
|
NM_007254.4(PNKP):c.822C>T (p.Asn274=)
|
rs780677866
|
0.00009
|
NM_007254.4(PNKP):c.1008C>T (p.Phe336=)
|
rs1474446608
|
0.00007
|
NM_007254.4(PNKP):c.1515A>G (p.Leu505=)
|
rs369748873
|
0.00007
|
NM_007254.4(PNKP):c.-13-19C>A
|
rs920231330
|
0.00006
|
NM_007254.4(PNKP):c.-13-20C>T
|
rs369527946
|
0.00006
|
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)
|
rs780121125
|
0.00006
|
NM_007254.4(PNKP):c.1062C>T (p.Leu354=)
|
rs142830558
|
0.00006
|
NM_007254.4(PNKP):c.1387-11G>A
|
rs200785744
|
0.00006
|
NM_007254.4(PNKP):c.817-20C>G
|
rs201778535
|
0.00006
|
NM_007254.4(PNKP):c.-11C>T
|
rs372465811
|
0.00004
|
NM_007254.4(PNKP):c.1189-11C>T
|
rs756362768
|
0.00004
|
NM_007254.4(PNKP):c.199-15C>T
|
rs201254691
|
0.00004
|
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
|
rs766589333
|
0.00004
|
NM_007254.4(PNKP):c.579-19C>T
|
rs368764301
|
0.00004
|
NM_007254.4(PNKP):c.1029+20G>T
|
rs1239545577
|
0.00003
|
NM_007254.4(PNKP):c.1030-9C>T
|
rs368699840
|
0.00003
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007254.4(PNKP):c.1386+19G>T
|
rs1057523595
|
0.00003
|
NM_007254.4(PNKP):c.327C>G (p.Thr109=)
|
rs749579842
|
0.00003
|
NM_007254.4(PNKP):c.403C>T (p.Leu135=)
|
rs766739774
|
0.00003
|
NM_007254.4(PNKP):c.789G>A (p.Thr263=)
|
rs768661843
|
0.00003
|
NM_007254.4(PNKP):c.834C>T (p.Pro278=)
|
rs372595462
|
0.00003
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
NM_007254.4(PNKP):c.1158C>G (p.Leu386=)
|
rs373766090
|
0.00002
|
NM_007254.4(PNKP):c.1188+12C>T
|
rs780736753
|
0.00002
|
NM_007254.4(PNKP):c.1344C>T (p.Phe448=)
|
rs762529581
|
0.00002
|
NM_007254.4(PNKP):c.1471C>T (p.Leu491=)
|
rs779306097
|
0.00002
|
NM_007254.4(PNKP):c.357G>A (p.Pro119=)
|
rs766826936
|
0.00002
|
NM_007254.4(PNKP):c.936+6G>A
|
rs751664776
|
0.00002
|
NM_007254.4(PNKP):c.-32G>A
|
rs796052845
|
0.00001
|
NM_007254.4(PNKP):c.-47C>T
|
rs1487640562
|
0.00001
|
NM_007254.4(PNKP):c.-4C>G
|
rs796052847
|
0.00001
|
NM_007254.4(PNKP):c.1029+16G>A
|
rs982882766
|
0.00001
|
NM_007254.4(PNKP):c.1107C>T (p.Val369=)
|
rs1233198739
|
0.00001
|
NM_007254.4(PNKP):c.1126+17T>C
|
rs1384026505
|
0.00001
|
NM_007254.4(PNKP):c.1127-12C>T
|
rs769293635
|
0.00001
|
NM_007254.4(PNKP):c.1140C>T (p.Thr380=)
|
rs780500233
|
0.00001
|
NM_007254.4(PNKP):c.1189-10G>C
|
rs1458942967
|
0.00001
|
NM_007254.4(PNKP):c.1233A>G (p.Thr411=)
|
rs1057522305
|
0.00001
|
NM_007254.4(PNKP):c.1287G>C (p.Ala429=)
|
rs1281900821
|
0.00001
|
NM_007254.4(PNKP):c.1298+20G>T
|
rs765634741
|
0.00001
|
NM_007254.4(PNKP):c.1298+5C>T
|
rs1171213214
|
0.00001
|
NM_007254.4(PNKP):c.1299-5C>T
|
rs1057522419
|
0.00001
|
NM_007254.4(PNKP):c.1387-4A>C
|
rs774527024
|
0.00001
|
NM_007254.4(PNKP):c.1448+7T>C
|
rs775646444
|
0.00001
|
NM_007254.4(PNKP):c.199-7T>A
|
rs904994238
|
0.00001
|
NM_007254.4(PNKP):c.24C>T (p.Gly8=)
|
rs1057522863
|
0.00001
|
NM_007254.4(PNKP):c.552C>T (p.Val184=)
|
rs369818814
|
0.00001
|
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)
|
rs201258910
|
0.00001
|
NM_007254.4(PNKP):c.585G>A (p.Leu195=)
|
rs770100322
|
0.00001
|
NM_007254.4(PNKP):c.60C>T (p.Pro20=)
|
rs1037495706
|
0.00001
|
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
|
rs571119317
|
0.00001
|
NM_007254.4(PNKP):c.636+12C>T
|
rs768950578
|
0.00001
|
NM_007254.4(PNKP):c.723G>A (p.Glu241=)
|
rs778970176
|
0.00001
|
NM_007254.4(PNKP):c.759G>A (p.Thr253=)
|
rs1057522106
|
0.00001
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
NM_007254.4(PNKP):c.816+6T>A
|
rs1313353571
|
0.00001
|
NM_007254.4(PNKP):c.987C>T (p.Leu329=)
|
rs150644303
|
0.00001
|
NC_000019.10:g.49861091dup
|
rs3739210
|
|
NM_007254.4(PNKP):c.*5C>G
|
rs756320620
|
|
NM_007254.4(PNKP):c.-21G>A
|
rs893501652
|
|
NM_007254.4(PNKP):c.-26G>T
|
rs1057521745
|
|
NM_007254.4(PNKP):c.-3A>G
|
rs796052848
|
|
NM_007254.4(PNKP):c.-48T>G
|
rs1057520774
|
|
NM_007254.4(PNKP):c.-7A>C
|
rs369053276
|
|
NM_007254.4(PNKP):c.1030-20G>A
|
rs1200668101
|
|
NM_007254.4(PNKP):c.1030-34A>C
|
rs3739201
|
|
NM_007254.4(PNKP):c.1065C>T (p.Pro355=)
|
rs569834947
|
|
NM_007254.4(PNKP):c.111C>A (p.Pro37=)
|
rs781573473
|
|
NM_007254.4(PNKP):c.1164G>T (p.Ser388=)
|
rs776788871
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
NM_007254.4(PNKP):c.1189-10G>A
|
rs1458942967
|
|
NM_007254.4(PNKP):c.1189-67C>T
|
rs3739204
|
|
NM_007254.4(PNKP):c.1266C>T (p.Asp422=)
|
rs1055603577
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1298+12G>A
|
rs747065246
|
|
NM_007254.4(PNKP):c.1298+20G>A
|
rs765634741
|
|
NM_007254.4(PNKP):c.1298+8G>C
|
rs1555810842
|
|
NM_007254.4(PNKP):c.1299-7C>T
|
rs1555810817
|
|
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT
|
rs1064794370
|
|
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)
|
rs565533397
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1387-3_1387-2del
|
rs760066611
|
|
NM_007254.4(PNKP):c.178C>A (p.Arg60=)
|
rs761948305
|
|
NM_007254.4(PNKP):c.199-14CT[2]
|
rs749292876
|
|
NM_007254.4(PNKP):c.199-199dup
|
rs749242089
|
|
NM_007254.4(PNKP):c.199-200del
|
rs34609679
|
|
NM_007254.4(PNKP):c.199C>T (p.Leu67=)
|
rs1038434528
|
|
NM_007254.4(PNKP):c.243G>A (p.Pro81=)
|
rs1057520480
|
|
NM_007254.4(PNKP):c.255C>T (p.Gly85=)
|
rs1568662321
|
|
NM_007254.4(PNKP):c.258T>C (p.Ser86=)
|
rs375826483
|
|
NM_007254.4(PNKP):c.291T>C (p.Asn97=)
|
rs1555811608
|
|
NM_007254.4(PNKP):c.381A>G (p.Gln127=)
|
rs139679798
|
|
NM_007254.4(PNKP):c.408G>A (p.Pro136=)
|
rs770822417
|
|
NM_007254.4(PNKP):c.408G>T (p.Pro136=)
|
rs770822417
|
|
NM_007254.4(PNKP):c.637-13del
|
rs754413273
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
NM_007254.4(PNKP):c.744+14G>A
|
rs111647455
|
|
NM_007254.4(PNKP):c.817-169G>A
|
rs1290647
|
|
NM_007254.4(PNKP):c.817-17A>G
|
rs759404435
|
|
NM_007254.4(PNKP):c.817-227G>T
|
rs150411318
|
|
NM_007254.4(PNKP):c.817-4G>T
|
rs377241372
|
|
NM_007254.4(PNKP):c.817-5del
|
rs767881542
|
|
NM_007254.4(PNKP):c.846G>A (p.Gly282=)
|
rs2122329116
|
|
NM_007254.4(PNKP):c.867C>T (p.Asp289=)
|
rs771239062
|
|
NM_007254.4(PNKP):c.906G>A (p.Lys302=)
|
rs1555811171
|
|
NM_007254.4(PNKP):c.936+13C>T
|
rs962788282
|
|
NM_007254.4(PNKP):c.937-20T>C
|
rs894694605
|
|