NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
|
|
|
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
|
|
|
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)
|
rs1485588385
|
|
NM_000297.4(PKD2):c.1094+1del
|
rs2110107353
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)
|
rs2110112018
|
|
NM_000297.4(PKD2):c.1116dup (p.Asp373fs)
|
rs2110112037
|
|
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)
|
rs1578133684
|
|
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
|
|
|
NM_000297.4(PKD2):c.1235dup (p.Asn412fs)
|
rs1727650877
|
|
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)
|
rs1727651995
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
|
rs1727786451
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1548_1548+2del
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|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs)
|
rs1560617356
|
|
NM_000297.4(PKD2):c.1645dup (p.Glu549fs)
|
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
|
|
|
NM_000297.4(PKD2):c.1807dup (p.Met603fs)
|
rs1578141765
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
|
|
|
NM_000297.4(PKD2):c.1899-2A>T
|
|
|
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)
|
rs398123307
|
|
NM_000297.4(PKD2):c.1929dup (p.Ile644fs)
|
rs1720428157
|
|
NM_000297.4(PKD2):c.1973del (p.Pro658fs)
|
rs1720429890
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
NM_000297.4(PKD2):c.2020-2del
|
rs2110133920
|
|
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)
|
rs2110134005
|
|
NM_000297.4(PKD2):c.2118+2T>C
|
|
|
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
|
|
|
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)
|
rs778707203
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs)
|
rs1560626561
|
|
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)
|
rs1255557802
|
|
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
|
|
|
NM_000297.4(PKD2):c.2568dup (p.Val857fs)
|
rs1578153553
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
|
|
|
NM_000297.4(PKD2):c.690del (p.Leu231fs)
|
|
|
NM_000297.4(PKD2):c.691dup (p.Leu231fs)
|
rs1553924174
|
|
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)
|
rs1578118371
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
|
rs780351760
|
|
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
|
rs2110104859
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)
|
rs2110107072
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000297.4(PKD2):c.982_984del (p.Asn328del)
|
rs1727421192
|
|
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)
|
rs1578130536
|
|
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser)
|
rs1578130536
|
|