| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025867_52025870delinsGGCT | CA1628595760 | PKHD1 | c.3940_3943delinsAGCC (p.Ser1314=) c.3229_3232delinsAGCC (p.Ser1077=) c.3865_3868delinsAGCC (p.Ser1289=) c.3676_3679delinsAGCC (p.Ser1226=) c.2080_2083delinsAGCC (p.Ser694=) n.4216_4219delinsAGCC | |
| 6 | g.52025871_52025873del | CA3852809 | PKHD1 | c.3940_3942del (p.Ser1314del) c.3229_3231del (p.Ser1077del) c.3865_3867del (p.Ser1289del) c.3676_3678del (p.Ser1226del) c.2080_2082del (p.Ser694del) n.4216_4218del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025869_52025870delinsCT | CA1628595771 | PKHD1 | c.3940_3941delinsAG (p.Ser1314=) c.3229_3230delinsAG (p.Ser1077=) c.3865_3866delinsAG (p.Ser1289=) c.3676_3677delinsAG (p.Ser1226=) c.2080_2081delinsAG (p.Ser694=) n.4216_4217delinsAG | |
| 6 | g.52025870del | CA16041057 | PKHD1 | c.3940del (p.Ser1314AlafsTer2) c.3229del (p.Ser1077AlafsTer2) c.3865del (p.Ser1289AlafsTer2) c.3676del (p.Ser1226AlafsTer2) c.2080del (p.Ser694AlafsTer2) n.4216del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025870T>A | CA364436849 | PKHD1 | c.3940A>T (p.Ser1314Cys) c.3229A>T (p.Ser1077Cys) c.3865A>T (p.Ser1289Cys) c.3676A>T (p.Ser1226Cys) c.2080A>T (p.Ser694Cys) n.4216A>T | |
| 6 | g.52025870T>C | CA364436847 | PKHD1 | c.3940A>G (p.Ser1314Gly) c.3229A>G (p.Ser1077Gly) c.3865A>G (p.Ser1289Gly) c.3676A>G (p.Ser1226Gly) c.2080A>G (p.Ser694Gly) n.4216A>G | |
| 6 | g.52025870T>G | CA364436843 | PKHD1 | c.3940A>C (p.Ser1314Arg) c.3229A>C (p.Ser1077Arg) c.3865A>C (p.Ser1289Arg) c.3676A>C (p.Ser1226Arg) c.2080A>C (p.Ser694Arg) n.4216A>C | |
| 6 | g.52025871G>A | CA450614768 | PKHD1 | c.3939C>T (p.Ser1313=) c.3228C>T (p.Ser1076=) c.3864C>T (p.Ser1288=) c.3675C>T (p.Ser1225=) c.2079C>T (p.Ser693=) n.4215C>T | ClinVar dbSNP |
| 6 | g.52025871G>C | CA364436853 | PKHD1 | c.3939C>G (p.Ser1313Arg) c.3228C>G (p.Ser1076Arg) c.3864C>G (p.Ser1288Arg) c.3675C>G (p.Ser1225Arg) c.2079C>G (p.Ser693Arg) n.4215C>G | COSMIC COSMIC |
| 6 | g.52025871G>T | CA364436855 | PKHD1 | c.3939C>A (p.Ser1313Arg) c.3228C>A (p.Ser1076Arg) c.3864C>A (p.Ser1288Arg) c.3675C>A (p.Ser1225Arg) c.2079C>A (p.Ser693Arg) n.4215C>A | |
| 6 | g.52025872C>A | CA364436857 | PKHD1 | c.3938G>T (p.Ser1313Ile) c.3227G>T (p.Ser1076Ile) c.3863G>T (p.Ser1288Ile) c.3674G>T (p.Ser1225Ile) c.2078G>T (p.Ser693Ile) n.4214G>T | |
| 6 | g.52025872C>G | CA364436860 | PKHD1 | c.3938G>C (p.Ser1313Thr) c.3227G>C (p.Ser1076Thr) c.3863G>C (p.Ser1288Thr) c.3674G>C (p.Ser1225Thr) c.2078G>C (p.Ser693Thr) n.4214G>C | |
| 6 | g.52025872C>T | CA364436861 | PKHD1 | c.3938G>A (p.Ser1313Asn) c.3227G>A (p.Ser1076Asn) c.3863G>A (p.Ser1288Asn) c.3674G>A (p.Ser1225Asn) c.2078G>A (p.Ser693Asn) n.4214G>A | gnomAD v4 |
| 6 | g.52025873T>A | CA364436865 | PKHD1 | c.3937A>T (p.Ser1313Cys) c.3226A>T (p.Ser1076Cys) c.3862A>T (p.Ser1288Cys) c.3673A>T (p.Ser1225Cys) c.2077A>T (p.Ser693Cys) n.4213A>T | |
| 6 | g.52025873T>C | CA364436870 | PKHD1 | c.3937A>G (p.Ser1313Gly) c.3226A>G (p.Ser1076Gly) c.3862A>G (p.Ser1288Gly) c.3673A>G (p.Ser1225Gly) c.2077A>G (p.Ser693Gly) n.4213A>G | |
| 6 | g.52025873T>G | CA364436867 | PKHD1 | c.3937A>C (p.Ser1313Arg) c.3226A>C (p.Ser1076Arg) c.3862A>C (p.Ser1288Arg) c.3673A>C (p.Ser1225Arg) c.2077A>C (p.Ser693Arg) n.4213A>C | |
| 6 | g.52025873T= | CA1628595788 | PKHD1 | c.3937A= (p.Ser1313=) c.3226A= (p.Ser1076=) c.3862A= (p.Ser1288=) c.3673A= (p.Ser1225=) c.2077A= (p.Ser693=) n.4213A= | |
| 6 | g.52025874A= | CA1628595793 | PKHD1 | c.3936T= (p.Asn1312=) c.3225T= (p.Asn1075=) c.3861T= (p.Asn1287=) c.3672T= (p.Asn1224=) c.2076T= (p.Asn692=) n.4212T= | |
| 6 | g.52025874A>C | CA364436873 | PKHD1 | c.3936T>G (p.Asn1312Lys) c.3225T>G (p.Asn1075Lys) c.3861T>G (p.Asn1287Lys) c.3672T>G (p.Asn1224Lys) c.2076T>G (p.Asn692Lys) n.4212T>G | dbSNP gnomAD v4 |
| 6 | g.52025874A>G | CA3852810 | PKHD1 | c.3936T>C (p.Asn1312=) c.3225T>C (p.Asn1075=) c.3861T>C (p.Asn1287=) c.3672T>C (p.Asn1224=) c.2076T>C (p.Asn692=) n.4212T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025874A>T | CA364436876 | PKHD1 | c.3936T>A (p.Asn1312Lys) c.3225T>A (p.Asn1075Lys) c.3861T>A (p.Asn1287Lys) c.3672T>A (p.Asn1224Lys) c.2076T>A (p.Asn692Lys) n.4212T>A | |
| 6 | g.52025874dup | CA1628595797 | PKHD1 | c.3936dup (p.Ser1313Ter) c.3225dup (p.Ser1076Ter) c.3861dup (p.Ser1288Ter) c.3672dup (p.Ser1225Ter) c.2076dup (p.Ser693Ter) n.4212dup | dbSNP |
| 6 | g.52025875T>A | CA364436881 | PKHD1 | c.3935A>T (p.Asn1312Ile) c.3224A>T (p.Asn1075Ile) c.3860A>T (p.Asn1287Ile) c.3671A>T (p.Asn1224Ile) c.2075A>T (p.Asn692Ile) n.4211A>T | |
| 6 | g.52025875T>C | CA364436883 | PKHD1 | c.3935A>G (p.Asn1312Ser) c.3224A>G (p.Asn1075Ser) c.3860A>G (p.Asn1287Ser) c.3671A>G (p.Asn1224Ser) c.2075A>G (p.Asn692Ser) n.4211A>G | |
| 6 | g.52025875T>G | CA364436886 | PKHD1 | c.3935A>C (p.Asn1312Thr) c.3224A>C (p.Asn1075Thr) c.3860A>C (p.Asn1287Thr) c.3671A>C (p.Asn1224Thr) c.2075A>C (p.Asn692Thr) n.4211A>C | |
| 6 | g.52025876T>A | CA364436889 | PKHD1 | c.3934A>T (p.Asn1312Tyr) c.3223A>T (p.Asn1075Tyr) c.3859A>T (p.Asn1287Tyr) c.3670A>T (p.Asn1224Tyr) c.2074A>T (p.Asn692Tyr) n.4210A>T | |
| 6 | g.52025876T>C | CA364436891 | PKHD1 | c.3934A>G (p.Asn1312Asp) c.3223A>G (p.Asn1075Asp) c.3859A>G (p.Asn1287Asp) c.3670A>G (p.Asn1224Asp) c.2074A>G (p.Asn692Asp) n.4210A>G | gnomAD v4 |
| 6 | g.52025876T>G | CA364436894 | PKHD1 | c.3934A>C (p.Asn1312His) c.3223A>C (p.Asn1075His) c.3859A>C (p.Asn1287His) c.3670A>C (p.Asn1224His) c.2074A>C (p.Asn692His) n.4210A>C | |
| 6 | g.52025877T>A | CA450614773 | PKHD1 | c.3933A>T (p.Thr1311=) c.3222A>T (p.Thr1074=) c.3858A>T (p.Thr1286=) c.3669A>T (p.Thr1223=) c.2073A>T (p.Thr691=) n.4209A>T | |
| 6 | g.52025877T>C | CA450614774 | PKHD1 | c.3933A>G (p.Thr1311=) c.3222A>G (p.Thr1074=) c.3858A>G (p.Thr1286=) c.3669A>G (p.Thr1223=) c.2073A>G (p.Thr691=) n.4209A>G | ClinVar dbSNP |
| 6 | g.52025877T>G | CA450614775 | PKHD1 | c.3933A>C (p.Thr1311=) c.3222A>C (p.Thr1074=) c.3858A>C (p.Thr1286=) c.3669A>C (p.Thr1223=) c.2073A>C (p.Thr691=) n.4209A>C | |
| 6 | g.52025879_52025880del | CA2580617259 | PKHD1 | c.3932_3933del (p.Thr1311LysfsTer2) c.3221_3222del (p.Thr1074LysfsTer2) c.3857_3858del (p.Thr1286LysfsTer2) c.3668_3669del (p.Thr1223LysfsTer2) c.2072_2073del (p.Thr691LysfsTer2) n.4208_4209del | |
| 6 | g.52025878G>A | CA364436896 | PKHD1 | c.3932C>T (p.Thr1311Ile) c.3221C>T (p.Thr1074Ile) c.3857C>T (p.Thr1286Ile) c.3668C>T (p.Thr1223Ile) c.2072C>T (p.Thr691Ile) n.4208C>T | |
| 6 | g.52025878G>C | CA364436899 | PKHD1 | c.3932C>G (p.Thr1311Arg) c.3221C>G (p.Thr1074Arg) c.3857C>G (p.Thr1286Arg) c.3668C>G (p.Thr1223Arg) c.2072C>G (p.Thr691Arg) n.4208C>G | |
| 6 | g.52025878G>T | CA364436901 | PKHD1 | c.3932C>A (p.Thr1311Lys) c.3221C>A (p.Thr1074Lys) c.3857C>A (p.Thr1286Lys) c.3668C>A (p.Thr1223Lys) c.2072C>A (p.Thr691Lys) n.4208C>A | |
| 6 | g.52025879T>A | CA364436908 | PKHD1 | c.3931A>T (p.Thr1311Ser) c.3220A>T (p.Thr1074Ser) c.3856A>T (p.Thr1286Ser) c.3667A>T (p.Thr1223Ser) c.2071A>T (p.Thr691Ser) n.4207A>T | |
| 6 | g.52025879T>C | CA364436904 | PKHD1 | c.3931A>G (p.Thr1311Ala) c.3220A>G (p.Thr1074Ala) c.3856A>G (p.Thr1286Ala) c.3667A>G (p.Thr1223Ala) c.2071A>G (p.Thr691Ala) n.4207A>G | |
| 6 | g.52025879T>G | CA364436906 | PKHD1 | c.3931A>C (p.Thr1311Pro) c.3220A>C (p.Thr1074Pro) c.3856A>C (p.Thr1286Pro) c.3667A>C (p.Thr1223Pro) c.2071A>C (p.Thr691Pro) n.4207A>C | |
| 6 | g.52025880G>A | CA450614776 | PKHD1 | c.3930C>T (p.Ile1310=) c.3219C>T (p.Ile1073=) c.3855C>T (p.Ile1285=) c.3666C>T (p.Ile1222=) c.2070C>T (p.Ile690=) n.4206C>T | |
| 6 | g.52025880G>C | CA364436909 | PKHD1 | c.3930C>G (p.Ile1310Met) c.3219C>G (p.Ile1073Met) c.3855C>G (p.Ile1285Met) c.3666C>G (p.Ile1222Met) c.2070C>G (p.Ile690Met) n.4206C>G | |
| 6 | g.52025880G>T | CA450614777 | PKHD1 | c.3930C>A (p.Ile1310=) c.3219C>A (p.Ile1073=) c.3855C>A (p.Ile1285=) c.3666C>A (p.Ile1222=) c.2070C>A (p.Ile690=) n.4206C>A | |
| 6 | g.52025881A>C | CA364436912 | PKHD1 | c.3929T>G (p.Ile1310Ser) c.3218T>G (p.Ile1073Ser) c.3854T>G (p.Ile1285Ser) c.3665T>G (p.Ile1222Ser) c.2069T>G (p.Ile690Ser) n.4205T>G | |
| 6 | g.52025881A>G | CA364436914 | PKHD1 | c.3929T>C (p.Ile1310Thr) c.3218T>C (p.Ile1073Thr) c.3854T>C (p.Ile1285Thr) c.3665T>C (p.Ile1222Thr) c.2069T>C (p.Ile690Thr) n.4205T>C | |
| 6 | g.52025881A>T | CA364436916 | PKHD1 | c.3929T>A (p.Ile1310Asn) c.3218T>A (p.Ile1073Asn) c.3854T>A (p.Ile1285Asn) c.3665T>A (p.Ile1222Asn) c.2069T>A (p.Ile690Asn) n.4205T>A | |
| 6 | g.52025882T>A | CA364436918 | PKHD1 | c.3928A>T (p.Ile1310Phe) c.3217A>T (p.Ile1073Phe) c.3853A>T (p.Ile1285Phe) c.3664A>T (p.Ile1222Phe) c.2068A>T (p.Ile690Phe) n.4204A>T | |
| 6 | g.52025882T>C | CA364436921 | PKHD1 | c.3928A>G (p.Ile1310Val) c.3217A>G (p.Ile1073Val) c.3853A>G (p.Ile1285Val) c.3664A>G (p.Ile1222Val) c.2068A>G (p.Ile690Val) n.4204A>G | dbSNP COSMIC COSMIC |
| 6 | g.52025882T>G | CA364436923 | PKHD1 | c.3928A>C (p.Ile1310Leu) c.3217A>C (p.Ile1073Leu) c.3853A>C (p.Ile1285Leu) c.3664A>C (p.Ile1222Leu) c.2068A>C (p.Ile690Leu) n.4204A>C | |
| 6 | g.52025882T= | CA1628595805 | PKHD1 | c.3928A= (p.Ile1310=) c.3217A= (p.Ile1073=) c.3853A= (p.Ile1285=) c.3664A= (p.Ile1222=) c.2068A= (p.Ile690=) n.4204A= | |
| 6 | g.52025883T>A | CA364436929 | PKHD1 | c.3927A>T (p.Glu1309Asp) c.3216A>T (p.Glu1072Asp) c.3852A>T (p.Glu1284Asp) c.3663A>T (p.Glu1221Asp) c.2067A>T (p.Glu689Asp) n.4203A>T | |
| 6 | g.52025883T>C | CA450614781 | PKHD1 | c.3927A>G (p.Glu1309=) c.3216A>G (p.Glu1072=) c.3852A>G (p.Glu1284=) c.3663A>G (p.Glu1221=) c.2067A>G (p.Glu689=) n.4203A>G |