| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025155dup | CA1088986305 | PKHD1 | c.4660dup (p.Tyr1554LeufsTer11) c.4102-84dup (n.4102-84dup) c.3949dup (p.Tyr1317LeufsTer11) c.4585dup (p.Tyr1529LeufsTer11) c.4396dup (p.Tyr1466LeufsTer11) c.2800dup (p.Tyr934LeufsTer11) n.4936dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52025155A= | CA1628647240 | PKHD1 | c.4655T= (p.Val1552=) c.4102-89T= (n.4102-89T=) c.3944T= (p.Val1315=) c.4580T= (p.Val1527=) c.4391T= (p.Val1464=) c.2795T= (p.Val932=) n.4931T= | |
| 6 | g.52025155A>C | CA364432031 | PKHD1 | c.4655T>G (p.Val1552Gly) c.4102-89T>G (n.4102-89T>G) c.3944T>G (p.Val1315Gly) c.4580T>G (p.Val1527Gly) c.4391T>G (p.Val1464Gly) c.2795T>G (p.Val932Gly) n.4931T>G | |
| 6 | g.52025155A>G | CA364432033 | PKHD1 | c.4655T>C (p.Val1552Ala) c.4102-89T>C (n.4102-89T>C) c.3944T>C (p.Val1315Ala) c.4580T>C (p.Val1527Ala) c.4391T>C (p.Val1464Ala) c.2795T>C (p.Val932Ala) n.4931T>C | COSMIC COSMIC |
| 6 | g.52025155A>T | CA3852688 | PKHD1 | c.4655T>A (p.Val1552Asp) c.4102-89T>A (n.4102-89T>A) c.3944T>A (p.Val1315Asp) c.4580T>A (p.Val1527Asp) c.4391T>A (p.Val1464Asp) c.2795T>A (p.Val932Asp) n.4931T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025156C>A | CA364432041 | PKHD1 | c.4654G>T (p.Val1552Phe) c.4102-90G>T (n.4102-90G>T) c.3943G>T (p.Val1315Phe) c.4579G>T (p.Val1527Phe) c.4390G>T (p.Val1464Phe) c.2794G>T (p.Val932Phe) n.4930G>T | |
| 6 | g.52025156C= | CA1628647243 | PKHD1 | c.4654G= (p.Val1552=) c.4102-90G= (n.4102-90G=) c.3943G= (p.Val1315=) c.4579G= (p.Val1527=) c.4390G= (p.Val1464=) c.2794G= (p.Val932=) n.4930G= | |
| 6 | g.52025156C>G | CA364432044 | PKHD1 | c.4654G>C (p.Val1552Leu) c.4102-90G>C (n.4102-90G>C) c.3943G>C (p.Val1315Leu) c.4579G>C (p.Val1527Leu) c.4390G>C (p.Val1464Leu) c.2794G>C (p.Val932Leu) n.4930G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025156C>T | CA364432038 | PKHD1 | c.4654G>A (p.Val1552Ile) c.4102-90G>A (n.4102-90G>A) c.3943G>A (p.Val1315Ile) c.4579G>A (p.Val1527Ile) c.4390G>A (p.Val1464Ile) c.2794G>A (p.Val932Ile) n.4930G>A | gnomAD v4 |
| 6 | g.52025156_52025166delinsCTGACAGGTAG | CA1628647245 | PKHD1 | c.4644_4654delinsCTACCTGTCAG (p.His1548=) c.4102-100_4102-90delinsCTACCTGTCAG (n.4102-100_4102-90delinsCTACCTGTCAG) c.3933_3943delinsCTACCTGTCAG (p.His1311=) c.4569_4579delinsCTACCTGTCAG (p.His1523=) c.4380_4390delinsCTACCTGTCAG (p.His1460=) c.2784_2794delinsCTACCTGTCAG (p.His928=) n.4920_4930delinsCTACCTGTCAG | |
| 6 | g.52025157T>A | CA450614276 | PKHD1 | c.4653A>T (p.Ser1551=) c.4102-91A>T (n.4102-91A>T) c.3942A>T (p.Ser1314=) c.4578A>T (p.Ser1526=) c.4389A>T (p.Ser1463=) c.2793A>T (p.Ser931=) n.4929A>T | |
| 6 | g.52025157T>C | CA450614277 | PKHD1 | c.4653A>G (p.Ser1551=) c.4102-91A>G (n.4102-91A>G) c.3942A>G (p.Ser1314=) c.4578A>G (p.Ser1526=) c.4389A>G (p.Ser1463=) c.2793A>G (p.Ser931=) n.4929A>G | |
| 6 | g.52025157T>G | CA450614278 | PKHD1 | c.4653A>C (p.Ser1551=) c.4102-91A>C (n.4102-91A>C) c.3942A>C (p.Ser1314=) c.4578A>C (p.Ser1526=) c.4389A>C (p.Ser1463=) c.2793A>C (p.Ser931=) n.4929A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52025157T= | CA1628647248 | PKHD1 | c.4653A= (p.Ser1551=) c.4102-91A= (n.4102-91A=) c.3942A= (p.Ser1314=) c.4578A= (p.Ser1526=) c.4389A= (p.Ser1463=) c.2793A= (p.Ser931=) n.4929A= | |
| 6 | g.52025159_52025168del | CA567636241 | PKHD1 | c.4644_4653del (p.His1548GlnfsTer?) c.4102-100_4102-91del (n.4102-100_4102-91del) c.3933_3942del (p.His1311GlnfsTer?) c.4569_4578del (p.His1523GlnfsTer?) c.4380_4389del (p.His1460GlnfsTer?) c.2784_2793del (p.His928GlnfsTer?) n.4920_4929del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025158G>A | CA364432048 | PKHD1 | c.4652C>T (p.Ser1551Leu) c.4102-92C>T (n.4102-92C>T) c.3941C>T (p.Ser1314Leu) c.4577C>T (p.Ser1526Leu) c.4388C>T (p.Ser1463Leu) c.2792C>T (p.Ser931Leu) n.4928C>T | gnomAD v4 |
| 6 | g.52025158G>C | CA3852689 | PKHD1 | c.4652C>G (p.Ser1551Ter) c.4102-92C>G (n.4102-92C>G) c.3941C>G (p.Ser1314Ter) c.4577C>G (p.Ser1526Ter) c.4388C>G (p.Ser1463Ter) c.2792C>G (p.Ser931Ter) n.4928C>G | dbSNP ExAC gnomAD v2 |
| 6 | g.52025158G= | CA1628647250 | PKHD1 | c.4652C= (p.Ser1551=) c.4102-92C= (n.4102-92C=) c.3941C= (p.Ser1314=) c.4577C= (p.Ser1526=) c.4388C= (p.Ser1463=) c.2792C= (p.Ser931=) n.4928C= | |
| 6 | g.52025158G>T | CA364432050 | PKHD1 | c.4652C>A (p.Ser1551Ter) c.4102-92C>A (n.4102-92C>A) c.3941C>A (p.Ser1314Ter) c.4577C>A (p.Ser1526Ter) c.4388C>A (p.Ser1463Ter) c.2792C>A (p.Ser931Ter) n.4928C>A | |
| 6 | g.52025159A>C | CA364432052 | PKHD1 | c.4651T>G (p.Ser1551Ala) c.4102-93T>G (n.4102-93T>G) c.3940T>G (p.Ser1314Ala) c.4576T>G (p.Ser1526Ala) c.4387T>G (p.Ser1463Ala) c.2791T>G (p.Ser931Ala) n.4927T>G | |
| 6 | g.52025159A>G | CA364432053 | PKHD1 | c.4651T>C (p.Ser1551Pro) c.4102-93T>C (n.4102-93T>C) c.3940T>C (p.Ser1314Pro) c.4576T>C (p.Ser1526Pro) c.4387T>C (p.Ser1463Pro) c.2791T>C (p.Ser931Pro) n.4927T>C | |
| 6 | g.52025159A>T | CA364432055 | PKHD1 | c.4651T>A (p.Ser1551Thr) c.4102-93T>A (n.4102-93T>A) c.3940T>A (p.Ser1314Thr) c.4576T>A (p.Ser1526Thr) c.4387T>A (p.Ser1463Thr) c.2791T>A (p.Ser931Thr) n.4927T>A | |
| 6 | g.52025160C>A | CA450614281 | PKHD1 | c.4650G>T (p.Leu1550=) c.4102-94G>T (n.4102-94G>T) c.3939G>T (p.Leu1313=) c.4575G>T (p.Leu1525=) c.4386G>T (p.Leu1462=) c.2790G>T (p.Leu930=) n.4926G>T | |
| 6 | g.52025160C>G | CA450614282 | PKHD1 | c.4650G>C (p.Leu1550=) c.4102-94G>C (n.4102-94G>C) c.3939G>C (p.Leu1313=) c.4575G>C (p.Leu1525=) c.4386G>C (p.Leu1462=) c.2790G>C (p.Leu930=) n.4926G>C | |
| 6 | g.52025160C>T | CA450614283 | PKHD1 | c.4650G>A (p.Leu1550=) c.4102-94G>A (n.4102-94G>A) c.3939G>A (p.Leu1313=) c.4575G>A (p.Leu1525=) c.4386G>A (p.Leu1462=) c.2790G>A (p.Leu930=) n.4926G>A | ClinVar dbSNP |
| 6 | g.52025161del | CA2695198878 | PKHD1 | c.4649del (p.Leu1550ArgfsTer?) c.4102-95del (n.4102-95del) c.3938del (p.Leu1313ArgfsTer?) c.4574del (p.Leu1525ArgfsTer?) c.4385del (p.Leu1462ArgfsTer?) c.2789del (p.Leu930ArgfsTer?) n.4925del | ClinVar |
| 6 | g.52025161A>C | CA364432057 | PKHD1 | c.4649T>G (p.Leu1550Arg) c.4102-95T>G (n.4102-95T>G) c.3938T>G (p.Leu1313Arg) c.4574T>G (p.Leu1525Arg) c.4385T>G (p.Leu1462Arg) c.2789T>G (p.Leu930Arg) n.4925T>G | |
| 6 | g.52025161A>G | CA364432061 | PKHD1 | c.4649T>C (p.Leu1550Pro) c.4102-95T>C (n.4102-95T>C) c.3938T>C (p.Leu1313Pro) c.4574T>C (p.Leu1525Pro) c.4385T>C (p.Leu1462Pro) c.2789T>C (p.Leu930Pro) n.4925T>C | |
| 6 | g.52025161A>T | CA364432059 | PKHD1 | c.4649T>A (p.Leu1550Gln) c.4102-95T>A (n.4102-95T>A) c.3938T>A (p.Leu1313Gln) c.4574T>A (p.Leu1525Gln) c.4385T>A (p.Leu1462Gln) c.2789T>A (p.Leu930Gln) n.4925T>A | |
| 6 | g.52025162G>A | CA450614284 | PKHD1 | c.4648C>T (p.Leu1550=) c.4102-96C>T (n.4102-96C>T) c.3937C>T (p.Leu1313=) c.4573C>T (p.Leu1525=) c.4384C>T (p.Leu1462=) c.2788C>T (p.Leu930=) n.4924C>T | |
| 6 | g.52025162G>C | CA364432062 | PKHD1 | c.4648C>G (p.Leu1550Val) c.4102-96C>G (n.4102-96C>G) c.3937C>G (p.Leu1313Val) c.4573C>G (p.Leu1525Val) c.4384C>G (p.Leu1462Val) c.2788C>G (p.Leu930Val) n.4924C>G | |
| 6 | g.52025162G= | CA1628647251 | PKHD1 | c.4648C= (p.Leu1550=) c.4102-96C= (n.4102-96C=) c.3937C= (p.Leu1313=) c.4573C= (p.Leu1525=) c.4384C= (p.Leu1462=) c.2788C= (p.Leu930=) n.4924C= | |
| 6 | g.52025162G>T | CA138946624 | PKHD1 | c.4648C>A (p.Leu1550Met) c.4102-96C>A (n.4102-96C>A) c.3937C>A (p.Leu1313Met) c.4573C>A (p.Leu1525Met) c.4384C>A (p.Leu1462Met) c.2788C>A (p.Leu930Met) n.4924C>A | dbSNP |
| 6 | g.52025163G>A | CA3852690 | PKHD1 | c.4647C>T (p.Tyr1549=) c.4102-97C>T (n.4102-97C>T) c.3936C>T (p.Tyr1312=) c.4572C>T (p.Tyr1524=) c.4383C>T (p.Tyr1461=) c.2787C>T (p.Tyr929=) n.4923C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025163G>C | CA364432065 | PKHD1 | c.4647C>G (p.Tyr1549Ter) c.4102-97C>G (n.4102-97C>G) c.3936C>G (p.Tyr1312Ter) c.4572C>G (p.Tyr1524Ter) c.4383C>G (p.Tyr1461Ter) c.2787C>G (p.Tyr929Ter) n.4923C>G | |
| 6 | g.52025163G= | CA1628647254 | PKHD1 | c.4647C= (p.Tyr1549=) c.4102-97C= (n.4102-97C=) c.3936C= (p.Tyr1312=) c.4572C= (p.Tyr1524=) c.4383C= (p.Tyr1461=) c.2787C= (p.Tyr929=) n.4923C= | |
| 6 | g.52025163G>T | CA364432067 | PKHD1 | c.4647C>A (p.Tyr1549Ter) c.4102-97C>A (n.4102-97C>A) c.3936C>A (p.Tyr1312Ter) c.4572C>A (p.Tyr1524Ter) c.4383C>A (p.Tyr1461Ter) c.2787C>A (p.Tyr929Ter) n.4923C>A | |
| 6 | g.52025164T>A | CA364432070 | PKHD1 | c.4646A>T (p.Tyr1549Phe) c.4102-98A>T (n.4102-98A>T) c.3935A>T (p.Tyr1312Phe) c.4571A>T (p.Tyr1524Phe) c.4382A>T (p.Tyr1461Phe) c.2786A>T (p.Tyr929Phe) n.4922A>T | |
| 6 | g.52025164T>C | CA364432072 | PKHD1 | c.4646A>G (p.Tyr1549Cys) c.4102-98A>G (n.4102-98A>G) c.3935A>G (p.Tyr1312Cys) c.4571A>G (p.Tyr1524Cys) c.4382A>G (p.Tyr1461Cys) c.2786A>G (p.Tyr929Cys) n.4922A>G | |
| 6 | g.52025164T>G | CA364432069 | PKHD1 | c.4646A>C (p.Tyr1549Ser) c.4102-98A>C (n.4102-98A>C) c.3935A>C (p.Tyr1312Ser) c.4571A>C (p.Tyr1524Ser) c.4382A>C (p.Tyr1461Ser) c.2786A>C (p.Tyr929Ser) n.4922A>C | |
| 6 | g.52025165A= | CA1628647257 | PKHD1 | c.4645T= (p.Tyr1549=) c.4102-99T= (n.4102-99T=) c.3934T= (p.Tyr1312=) c.4570T= (p.Tyr1524=) c.4381T= (p.Tyr1461=) c.2785T= (p.Tyr929=) n.4921T= | |
| 6 | g.52025165A>C | CA364432075 | PKHD1 | c.4645T>G (p.Tyr1549Asp) c.4102-99T>G (n.4102-99T>G) c.3934T>G (p.Tyr1312Asp) c.4570T>G (p.Tyr1524Asp) c.4381T>G (p.Tyr1461Asp) c.2785T>G (p.Tyr929Asp) n.4921T>G | |
| 6 | g.52025165A>G | CA364432076 | PKHD1 | c.4645T>C (p.Tyr1549His) c.4102-99T>C (n.4102-99T>C) c.3934T>C (p.Tyr1312His) c.4570T>C (p.Tyr1524His) c.4381T>C (p.Tyr1461His) c.2785T>C (p.Tyr929His) n.4921T>C | |
| 6 | g.52025165A>T | CA364432078 | PKHD1 | c.4645T>A (p.Tyr1549Asn) c.4102-99T>A (n.4102-99T>A) c.3934T>A (p.Tyr1312Asn) c.4570T>A (p.Tyr1524Asn) c.4381T>A (p.Tyr1461Asn) c.2785T>A (p.Tyr929Asn) n.4921T>A | |
| 6 | g.52025166del | CA2499218372 | PKHD1 | c.4644del (p.Tyr1549ThrfsTer?) c.4102-100del (n.4102-100del) c.3933del (p.Tyr1312ThrfsTer?) c.4569del (p.Tyr1524ThrfsTer?) c.4380del (p.Tyr1461ThrfsTer?) c.2784del (p.Tyr929ThrfsTer?) n.4920del | ClinVar dbSNP |
| 6 | g.52025166G>A | CA450614288 | PKHD1 | c.4644C>T (p.His1548=) c.4102-100C>T (n.4102-100C>T) c.3933C>T (p.His1311=) c.4569C>T (p.His1523=) c.4380C>T (p.His1460=) c.2784C>T (p.His928=) n.4920C>T | dbSNP |
| 6 | g.52025166G>C | CA364432080 | PKHD1 | c.4644C>G (p.His1548Gln) c.4102-100C>G (n.4102-100C>G) c.3933C>G (p.His1311Gln) c.4569C>G (p.His1523Gln) c.4380C>G (p.His1460Gln) c.2784C>G (p.His928Gln) n.4920C>G | |
| 6 | g.52025166G= | CA1628647261 | PKHD1 | c.4644C= (p.His1548=) c.4102-100C= (n.4102-100C=) c.3933C= (p.His1311=) c.4569C= (p.His1523=) c.4380C= (p.His1460=) c.2784C= (p.His928=) n.4920C= | |
| 6 | g.52025166G>T | CA364432081 | PKHD1 | c.4644C>A (p.His1548Gln) c.4102-100C>A (n.4102-100C>A) c.3933C>A (p.His1311Gln) c.4569C>A (p.His1523Gln) c.4380C>A (p.His1460Gln) c.2784C>A (p.His928Gln) n.4920C>A | |
| 6 | g.52025167_52025168del | CA2580075527 | PKHD1 | c.4643_4644del (p.His1548LeufsTer16) c.4102-101_4102-100del (n.4102-101_4102-100del) c.3932_3933del (p.His1311LeufsTer16) c.4568_4569del (p.His1523LeufsTer16) c.4379_4380del (p.His1460LeufsTer16) c.2783_2784del (p.His928LeufsTer16) n.4919_4920del | ClinVar |