| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024890T>A | CA450613918 | PKHD1 | c.4920A>T (p.Val1640=) c.4278A>T (p.Val1426=) c.4209A>T (p.Val1403=) c.4845A>T (p.Val1615=) c.4656A>T (p.Val1552=) c.3060A>T (p.Val1020=) n.5196A>T | ClinVar |
| 6 | g.52024890T>C | CA244189 | PKHD1 | c.4920A>G (p.Val1640=) c.4278A>G (p.Val1426=) c.4209A>G (p.Val1403=) c.4845A>G (p.Val1615=) c.4656A>G (p.Val1552=) c.3060A>G (p.Val1020=) n.5196A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024890T>G | CA450613919 | PKHD1 | c.4920A>C (p.Val1640=) c.4278A>C (p.Val1426=) c.4209A>C (p.Val1403=) c.4845A>C (p.Val1615=) c.4656A>C (p.Val1552=) c.3060A>C (p.Val1020=) n.5196A>C | |
| 6 | g.52024890T= | CA1628646823 | PKHD1 | c.4920A= (p.Val1640=) c.4278A= (p.Val1426=) c.4209A= (p.Val1403=) c.4845A= (p.Val1615=) c.4656A= (p.Val1552=) c.3060A= (p.Val1020=) n.5196A= | |
| 6 | g.52024891A>C | CA364430621 | PKHD1 | c.4919T>G (p.Val1640Gly) c.4277T>G (p.Val1426Gly) c.4208T>G (p.Val1403Gly) c.4844T>G (p.Val1615Gly) c.4655T>G (p.Val1552Gly) c.3059T>G (p.Val1020Gly) n.5195T>G | |
| 6 | g.52024891A>G | CA364430623 | PKHD1 | c.4919T>C (p.Val1640Ala) c.4277T>C (p.Val1426Ala) c.4208T>C (p.Val1403Ala) c.4844T>C (p.Val1615Ala) c.4655T>C (p.Val1552Ala) c.3059T>C (p.Val1020Ala) n.5195T>C | |
| 6 | g.52024891A>T | CA364430625 | PKHD1 | c.4919T>A (p.Val1640Glu) c.4277T>A (p.Val1426Glu) c.4208T>A (p.Val1403Glu) c.4844T>A (p.Val1615Glu) c.4655T>A (p.Val1552Glu) c.3059T>A (p.Val1020Glu) n.5195T>A | |
| 6 | g.52024892C>A | CA364430629 | PKHD1 | c.4918G>T (p.Val1640Leu) c.4276G>T (p.Val1426Leu) c.4207G>T (p.Val1403Leu) c.4843G>T (p.Val1615Leu) c.4654G>T (p.Val1552Leu) c.3058G>T (p.Val1020Leu) n.5194G>T | |
| 6 | g.52024892C= | CA1628646829 | PKHD1 | c.4918G= (p.Val1640=) c.4276G= (p.Val1426=) c.4207G= (p.Val1403=) c.4843G= (p.Val1615=) c.4654G= (p.Val1552=) c.3058G= (p.Val1020=) n.5194G= | |
| 6 | g.52024892C>G | CA364430630 | PKHD1 | c.4918G>C (p.Val1640Leu) c.4276G>C (p.Val1426Leu) c.4207G>C (p.Val1403Leu) c.4843G>C (p.Val1615Leu) c.4654G>C (p.Val1552Leu) c.3058G>C (p.Val1020Leu) n.5194G>C | |
| 6 | g.52024892C>T | CA364430626 | PKHD1 | c.4918G>A (p.Val1640Ile) c.4276G>A (p.Val1426Ile) c.4207G>A (p.Val1403Ile) c.4843G>A (p.Val1615Ile) c.4654G>A (p.Val1552Ile) c.3058G>A (p.Val1020Ile) n.5194G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024893C>A | CA364430632 | PKHD1 | c.4917G>T (p.Glu1639Asp) c.4275G>T (p.Glu1425Asp) c.4206G>T (p.Glu1402Asp) c.4842G>T (p.Glu1614Asp) c.4653G>T (p.Glu1551Asp) c.3057G>T (p.Glu1019Asp) n.5193G>T | |
| 6 | g.52024893C>G | CA364430633 | PKHD1 | c.4917G>C (p.Glu1639Asp) c.4275G>C (p.Glu1425Asp) c.4206G>C (p.Glu1402Asp) c.4842G>C (p.Glu1614Asp) c.4653G>C (p.Glu1551Asp) c.3057G>C (p.Glu1019Asp) n.5193G>C | |
| 6 | g.52024893C>T | CA450613920 | PKHD1 | c.4917G>A (p.Glu1639=) c.4275G>A (p.Glu1425=) c.4206G>A (p.Glu1402=) c.4842G>A (p.Glu1614=) c.4653G>A (p.Glu1551=) c.3057G>A (p.Glu1019=) n.5193G>A | |
| 6 | g.52024894T>A | CA364430638 | PKHD1 | c.4916A>T (p.Glu1639Val) c.4274A>T (p.Glu1425Val) c.4205A>T (p.Glu1402Val) c.4841A>T (p.Glu1614Val) c.4652A>T (p.Glu1551Val) c.3056A>T (p.Glu1019Val) n.5192A>T | |
| 6 | g.52024894T>C | CA364430640 | PKHD1 | c.4916A>G (p.Glu1639Gly) c.4274A>G (p.Glu1425Gly) c.4205A>G (p.Glu1402Gly) c.4841A>G (p.Glu1614Gly) c.4652A>G (p.Glu1551Gly) c.3056A>G (p.Glu1019Gly) n.5192A>G | |
| 6 | g.52024894T>G | CA364430643 | PKHD1 | c.4916A>C (p.Glu1639Ala) c.4274A>C (p.Glu1425Ala) c.4205A>C (p.Glu1402Ala) c.4841A>C (p.Glu1614Ala) c.4652A>C (p.Glu1551Ala) c.3056A>C (p.Glu1019Ala) n.5192A>C | |
| 6 | g.52024895C>A | CA364430645 | PKHD1 | c.4915G>T (p.Glu1639Ter) c.4273G>T (p.Glu1425Ter) c.4204G>T (p.Glu1402Ter) c.4840G>T (p.Glu1614Ter) c.4651G>T (p.Glu1551Ter) c.3055G>T (p.Glu1019Ter) n.5191G>T | |
| 6 | g.52024895C>G | CA364430647 | PKHD1 | c.4915G>C (p.Glu1639Gln) c.4273G>C (p.Glu1425Gln) c.4204G>C (p.Glu1402Gln) c.4840G>C (p.Glu1614Gln) c.4651G>C (p.Glu1551Gln) c.3055G>C (p.Glu1019Gln) n.5191G>C | |
| 6 | g.52024895C>T | CA364430650 | PKHD1 | c.4915G>A (p.Glu1639Lys) c.4273G>A (p.Glu1425Lys) c.4204G>A (p.Glu1402Lys) c.4840G>A (p.Glu1614Lys) c.4651G>A (p.Glu1551Lys) c.3055G>A (p.Glu1019Lys) n.5191G>A | |
| 6 | g.52024896T>A | CA450613921 | PKHD1 | c.4914A>T (p.Ile1638=) c.4272A>T (p.Ile1424=) c.4203A>T (p.Ile1401=) c.4839A>T (p.Ile1613=) c.4650A>T (p.Ile1550=) c.3054A>T (p.Ile1018=) n.5190A>T | |
| 6 | g.52024896T>C | CA364430652 | PKHD1 | c.4914A>G (p.Ile1638Met) c.4272A>G (p.Ile1424Met) c.4203A>G (p.Ile1401Met) c.4839A>G (p.Ile1613Met) c.4650A>G (p.Ile1550Met) c.3054A>G (p.Ile1018Met) n.5190A>G | |
| 6 | g.52024896T>G | CA450613922 | PKHD1 | c.4914A>C (p.Ile1638=) c.4272A>C (p.Ile1424=) c.4203A>C (p.Ile1401=) c.4839A>C (p.Ile1613=) c.4650A>C (p.Ile1550=) c.3054A>C (p.Ile1018=) n.5190A>C | ClinVar |
| 6 | g.52024897A>C | CA364430655 | PKHD1 | c.4913T>G (p.Ile1638Arg) c.4271T>G (p.Ile1424Arg) c.4202T>G (p.Ile1401Arg) c.4838T>G (p.Ile1613Arg) c.4649T>G (p.Ile1550Arg) c.3053T>G (p.Ile1018Arg) n.5189T>G | |
| 6 | g.52024897A>G | CA364430657 | PKHD1 | c.4913T>C (p.Ile1638Thr) c.4271T>C (p.Ile1424Thr) c.4202T>C (p.Ile1401Thr) c.4838T>C (p.Ile1613Thr) c.4649T>C (p.Ile1550Thr) c.3053T>C (p.Ile1018Thr) n.5189T>C | gnomAD v4 |
| 6 | g.52024897A>T | CA364430658 | PKHD1 | c.4913T>A (p.Ile1638Lys) c.4271T>A (p.Ile1424Lys) c.4202T>A (p.Ile1401Lys) c.4838T>A (p.Ile1613Lys) c.4649T>A (p.Ile1550Lys) c.3053T>A (p.Ile1018Lys) n.5189T>A | |
| 6 | g.52024898T>A | CA364430662 | PKHD1 | c.4912A>T (p.Ile1638Leu) c.4270A>T (p.Ile1424Leu) c.4201A>T (p.Ile1401Leu) c.4837A>T (p.Ile1613Leu) c.4648A>T (p.Ile1550Leu) c.3052A>T (p.Ile1018Leu) n.5188A>T | |
| 6 | g.52024898T>C | CA364430663 | PKHD1 | c.4912A>G (p.Ile1638Val) c.4270A>G (p.Ile1424Val) c.4201A>G (p.Ile1401Val) c.4837A>G (p.Ile1613Val) c.4648A>G (p.Ile1550Val) c.3052A>G (p.Ile1018Val) n.5188A>G | |
| 6 | g.52024898T>G | CA364430668 | PKHD1 | c.4912A>C (p.Ile1638Leu) c.4270A>C (p.Ile1424Leu) c.4201A>C (p.Ile1401Leu) c.4837A>C (p.Ile1613Leu) c.4648A>C (p.Ile1550Leu) c.3052A>C (p.Ile1018Leu) n.5188A>C | |
| 6 | g.52024899T>A | CA364430671 | PKHD1 | c.4911A>T (p.Glu1637Asp) c.4269A>T (p.Glu1423Asp) c.4200A>T (p.Glu1400Asp) c.4836A>T (p.Glu1612Asp) c.4647A>T (p.Glu1549Asp) c.3051A>T (p.Glu1017Asp) n.5187A>T | |
| 6 | g.52024899T>C | CA450613923 | PKHD1 | c.4911A>G (p.Glu1637=) c.4269A>G (p.Glu1423=) c.4200A>G (p.Glu1400=) c.4836A>G (p.Glu1612=) c.4647A>G (p.Glu1549=) c.3051A>G (p.Glu1017=) n.5187A>G | gnomAD v4 |
| 6 | g.52024899T>G | CA364430673 | PKHD1 | c.4911A>C (p.Glu1637Asp) c.4269A>C (p.Glu1423Asp) c.4200A>C (p.Glu1400Asp) c.4836A>C (p.Glu1612Asp) c.4647A>C (p.Glu1549Asp) c.3051A>C (p.Glu1017Asp) n.5187A>C | |
| 6 | g.52024900T>A | CA364430676 | PKHD1 | c.4910A>T (p.Glu1637Val) c.4268A>T (p.Glu1423Val) c.4199A>T (p.Glu1400Val) c.4835A>T (p.Glu1612Val) c.4646A>T (p.Glu1549Val) c.3050A>T (p.Glu1017Val) n.5186A>T | |
| 6 | g.52024900T>C | CA364430679 | PKHD1 | c.4910A>G (p.Glu1637Gly) c.4268A>G (p.Glu1423Gly) c.4199A>G (p.Glu1400Gly) c.4835A>G (p.Glu1612Gly) c.4646A>G (p.Glu1549Gly) c.3050A>G (p.Glu1017Gly) n.5186A>G | |
| 6 | g.52024900T>G | CA364430680 | PKHD1 | c.4910A>C (p.Glu1637Ala) c.4268A>C (p.Glu1423Ala) c.4199A>C (p.Glu1400Ala) c.4835A>C (p.Glu1612Ala) c.4646A>C (p.Glu1549Ala) c.3050A>C (p.Glu1017Ala) n.5186A>C | |
| 6 | g.52024901C>A | CA364430682 | PKHD1 | c.4909G>T (p.Glu1637Ter) c.4267G>T (p.Glu1423Ter) c.4198G>T (p.Glu1400Ter) c.4834G>T (p.Glu1612Ter) c.4645G>T (p.Glu1549Ter) c.3049G>T (p.Glu1017Ter) n.5185G>T | |
| 6 | g.52024901C>G | CA364430683 | PKHD1 | c.4909G>C (p.Glu1637Gln) c.4267G>C (p.Glu1423Gln) c.4198G>C (p.Glu1400Gln) c.4834G>C (p.Glu1612Gln) c.4645G>C (p.Glu1549Gln) c.3049G>C (p.Glu1017Gln) n.5185G>C | |
| 6 | g.52024901C>T | CA364430686 | PKHD1 | c.4909G>A (p.Glu1637Lys) c.4267G>A (p.Glu1423Lys) c.4198G>A (p.Glu1400Lys) c.4834G>A (p.Glu1612Lys) c.4645G>A (p.Glu1549Lys) c.3049G>A (p.Glu1017Lys) n.5185G>A | COSMIC COSMIC |
| 6 | g.52024902C>A | CA450613924 | PKHD1 | c.4908G>T (p.Leu1636=) c.4266G>T (p.Leu1422=) c.4197G>T (p.Leu1399=) c.4833G>T (p.Leu1611=) c.4644G>T (p.Leu1548=) c.3048G>T (p.Leu1016=) n.5184G>T | |
| 6 | g.52024902C>G | CA450613925 | PKHD1 | c.4908G>C (p.Leu1636=) c.4266G>C (p.Leu1422=) c.4197G>C (p.Leu1399=) c.4833G>C (p.Leu1611=) c.4644G>C (p.Leu1548=) c.3048G>C (p.Leu1016=) n.5184G>C | |
| 6 | g.52024902C>T | CA450613926 | PKHD1 | c.4908G>A (p.Leu1636=) c.4266G>A (p.Leu1422=) c.4197G>A (p.Leu1399=) c.4833G>A (p.Leu1611=) c.4644G>A (p.Leu1548=) c.3048G>A (p.Leu1016=) n.5184G>A | COSMIC COSMIC |
| 6 | g.52024903A>C | CA364430688 | PKHD1 | c.4907T>G (p.Leu1636Arg) c.4265T>G (p.Leu1422Arg) c.4196T>G (p.Leu1399Arg) c.4832T>G (p.Leu1611Arg) c.4643T>G (p.Leu1548Arg) c.3047T>G (p.Leu1016Arg) n.5183T>G | |
| 6 | g.52024903A>G | CA364430690 | PKHD1 | c.4907T>C (p.Leu1636Pro) c.4265T>C (p.Leu1422Pro) c.4196T>C (p.Leu1399Pro) c.4832T>C (p.Leu1611Pro) c.4643T>C (p.Leu1548Pro) c.3047T>C (p.Leu1016Pro) n.5183T>C | |
| 6 | g.52024903A>T | CA364430693 | PKHD1 | c.4907T>A (p.Leu1636Gln) c.4265T>A (p.Leu1422Gln) c.4196T>A (p.Leu1399Gln) c.4832T>A (p.Leu1611Gln) c.4643T>A (p.Leu1548Gln) c.3047T>A (p.Leu1016Gln) n.5183T>A | |
| 6 | g.52024904G>A | CA450613927 | PKHD1 | c.4906C>T (p.Leu1636=) c.4264C>T (p.Leu1422=) c.4195C>T (p.Leu1399=) c.4831C>T (p.Leu1611=) c.4642C>T (p.Leu1548=) c.3046C>T (p.Leu1016=) n.5182C>T | |
| 6 | g.52024904G>C | CA364430695 | PKHD1 | c.4906C>G (p.Leu1636Val) c.4264C>G (p.Leu1422Val) c.4195C>G (p.Leu1399Val) c.4831C>G (p.Leu1611Val) c.4642C>G (p.Leu1548Val) c.3046C>G (p.Leu1016Val) n.5182C>G | |
| 6 | g.52024904G>T | CA364430697 | PKHD1 | c.4906C>A (p.Leu1636Met) c.4264C>A (p.Leu1422Met) c.4195C>A (p.Leu1399Met) c.4831C>A (p.Leu1611Met) c.4642C>A (p.Leu1548Met) c.3046C>A (p.Leu1016Met) n.5182C>A | |
| 6 | g.52024905G>A | CA450613928 | PKHD1 | c.4905C>T (p.Ala1635=) c.4263C>T (p.Ala1421=) c.4194C>T (p.Ala1398=) c.4830C>T (p.Ala1610=) c.4641C>T (p.Ala1547=) c.3045C>T (p.Ala1015=) n.5181C>T | |
| 6 | g.52024905G>C | CA450613929 | PKHD1 | c.4905C>G (p.Ala1635=) c.4263C>G (p.Ala1421=) c.4194C>G (p.Ala1398=) c.4830C>G (p.Ala1610=) c.4641C>G (p.Ala1547=) c.3045C>G (p.Ala1015=) n.5181C>G | |
| 6 | g.52024905G>T | CA450613930 | PKHD1 | c.4905C>A (p.Ala1635=) c.4263C>A (p.Ala1421=) c.4194C>A (p.Ala1398=) c.4830C>A (p.Ala1610=) c.4641C>A (p.Ala1547=) c.3045C>A (p.Ala1015=) n.5181C>A |