NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00004
|
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)
|
rs751325113
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_007214.5(SEC63):c.2006_2007del (p.His669fs)
|
rs1403483213
|
0.00001
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
NM_007214.5(SEC63):c.452+1G>A
|
rs869312977
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
Multiple alleles
|
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
|
rs1727413505
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11016+1G>A
|
rs2151707040
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)
|
rs2151675632
|
|
NM_001009944.3(PKD1):c.1353dup (p.Val452fs)
|
rs2151822325
|
|
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)
|
rs2151813077
|
|
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)
|
rs763199691
|
|
NM_001009944.3(PKD1):c.302del (p.Asn101fs)
|
rs2151826161
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
|
rs534630703
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)
|
rs2151790507
|
|
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)
|
rs2151789316
|
|
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)
|
rs2151788244
|
|
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)
|
rs755972713
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.7065+2T>G
|
rs2151783529
|
|
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)
|
rs2151772170
|
|
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)
|
rs2151754452
|
|
NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
|
|
NM_001009944.3(PKD1):c.9569-1G>C
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)
|
rs2151823406
|
|
NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter)
|
rs121918520
|
|
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)
|
rs779685748
|
|
NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs)
|
rs2144822009
|
|
NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter)
|
rs2144826022
|
|
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter)
|
rs1011931149
|
|
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter)
|
rs1787002281
|
|
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter)
|
rs2114487759
|
|
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs)
|
rs2114434218
|
|
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter)
|
rs779331877
|
|
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter)
|
rs2114406531
|
|
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs)
|
rs2114406508
|
|
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)
|
rs2114403750
|
|
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)
|
rs768615942
|
|
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer)
|
rs869312978
|
|
NM_007214.5(SEC63):c.359_366del (p.Ile120fs)
|
rs2114476485
|
|
NM_007214.5(SEC63):c.422del (p.Met141fs)
|
rs2114476431
|
|
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter)
|
rs2114454119
|
|
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs)
|
rs2114453997
|
|
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)
|
rs755795110
|
|
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter)
|
rs749842172
|
|
NM_007214.5(SEC63):c.964del (p.Gln322fs)
|
rs2114447040
|
|
NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)
|
|
|
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter)
|
|
|
NM_024079.5(ALG8):c.272del (p.Asn91fs)
|
|
|
NM_024079.5(ALG8):c.371del (p.Cys124fs)
|
|
|
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)
|
rs869025583
|
|
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
|
rs1334145215
|
|
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs)
|
rs2128193153
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_152464.2(TMEM199):c.[376-1G>A];[40G>C]
|
|
|
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)
|
rs369488804
|
|
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)
|
rs750723025
|
|
NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro)
|
rs1465649718
|
|
NM_198334.3(GANAB):c.1936+1G>C
|
rs1565092899
|
|
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)
|
rs1565088616
|
|
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)
|
rs1210158408
|
|
NM_198334.3(GANAB):c.621del (p.Asp207fs)
|
rs1565099895
|
|