| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51912477T>A | CA364439723 | PKHD1 | c.6221A>T (p.Asp2074Val) c.5579A>T (p.Asp1860Val) c.5510A>T (p.Asp1837Val) c.296A>T (p.Asp99Val) c.6146A>T (p.Asp2049Val) c.5957A>T (p.Asp1986Val) c.4361A>T (p.Asp1454Val) n.6497A>T | |
| 6 | g.51912477T>C | CA364439727 | PKHD1 | c.6221A>G (p.Asp2074Gly) c.5579A>G (p.Asp1860Gly) c.5510A>G (p.Asp1837Gly) c.296A>G (p.Asp99Gly) c.6146A>G (p.Asp2049Gly) c.5957A>G (p.Asp1986Gly) c.4361A>G (p.Asp1454Gly) n.6497A>G | |
| 6 | g.51912477T>G | CA364439724 | PKHD1 | c.6221A>C (p.Asp2074Ala) c.5579A>C (p.Asp1860Ala) c.5510A>C (p.Asp1837Ala) c.296A>C (p.Asp99Ala) c.6146A>C (p.Asp2049Ala) c.5957A>C (p.Asp1986Ala) c.4361A>C (p.Asp1454Ala) n.6497A>C | |
| 6 | g.51912478C>A | CA364439729 | PKHD1 | c.6220G>T (p.Asp2074Tyr) c.5578G>T (p.Asp1860Tyr) c.5509G>T (p.Asp1837Tyr) c.295G>T (p.Asp99Tyr) c.6145G>T (p.Asp2049Tyr) c.5956G>T (p.Asp1986Tyr) c.4360G>T (p.Asp1454Tyr) n.6496G>T | |
| 6 | g.51912478C>G | CA364439732 | PKHD1 | c.6220G>C (p.Asp2074His) c.5578G>C (p.Asp1860His) c.5509G>C (p.Asp1837His) c.295G>C (p.Asp99His) c.6145G>C (p.Asp2049His) c.5956G>C (p.Asp1986His) c.4360G>C (p.Asp1454His) n.6496G>C | |
| 6 | g.51912478C>T | CA364439734 | PKHD1 | c.6220G>A (p.Asp2074Asn) c.5578G>A (p.Asp1860Asn) c.5509G>A (p.Asp1837Asn) c.295G>A (p.Asp99Asn) c.6145G>A (p.Asp2049Asn) c.5956G>A (p.Asp1986Asn) c.4360G>A (p.Asp1454Asn) n.6496G>A | COSMIC COSMIC |
| 6 | g.51912479C>A | CA450415985 | PKHD1 | c.6219G>T (p.Gly2073=) c.5577G>T (p.Gly1859=) c.5508G>T (p.Gly1836=) c.294G>T (p.Gly98=) c.6144G>T (p.Gly2048=) c.5955G>T (p.Gly1985=) c.4359G>T (p.Gly1453=) n.6495G>T | |
| 6 | g.51912479C>G | CA450415986 | PKHD1 | c.6219G>C (p.Gly2073=) c.5577G>C (p.Gly1859=) c.5508G>C (p.Gly1836=) c.294G>C (p.Gly98=) c.6144G>C (p.Gly2048=) c.5955G>C (p.Gly1985=) c.4359G>C (p.Gly1453=) n.6495G>C | |
| 6 | g.51912479C>T | CA450415987 | PKHD1 | c.6219G>A (p.Gly2073=) c.5577G>A (p.Gly1859=) c.5508G>A (p.Gly1836=) c.294G>A (p.Gly98=) c.6144G>A (p.Gly2048=) c.5955G>A (p.Gly1985=) c.4359G>A (p.Gly1453=) n.6495G>A | |
| 6 | g.51912480C>A | CA364439737 | PKHD1 | c.6218G>T (p.Gly2073Val) c.5576G>T (p.Gly1859Val) c.5507G>T (p.Gly1836Val) c.293G>T (p.Gly98Val) c.6143G>T (p.Gly2048Val) c.5954G>T (p.Gly1985Val) c.4358G>T (p.Gly1453Val) n.6494G>T | |
| 6 | g.51912480C= | CA1628583405 | PKHD1 | c.6218G= (p.Gly2073=) c.5576G= (p.Gly1859=) c.5507G= (p.Gly1836=) c.293G= (p.Gly98=) c.6143G= (p.Gly2048=) c.5954G= (p.Gly1985=) c.4358G= (p.Gly1453=) n.6494G= | |
| 6 | g.51912480C>G | CA364439739 | PKHD1 | c.6218G>C (p.Gly2073Ala) c.5576G>C (p.Gly1859Ala) c.5507G>C (p.Gly1836Ala) c.293G>C (p.Gly98Ala) c.6143G>C (p.Gly2048Ala) c.5954G>C (p.Gly1985Ala) c.4358G>C (p.Gly1453Ala) n.6494G>C | |
| 6 | g.51912480C>T | CA364439742 | PKHD1 | c.6218G>A (p.Gly2073Glu) c.5576G>A (p.Gly1859Glu) c.5507G>A (p.Gly1836Glu) c.293G>A (p.Gly98Glu) c.6143G>A (p.Gly2048Glu) c.5954G>A (p.Gly1985Glu) c.4358G>A (p.Gly1453Glu) n.6494G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912481C>A | CA364439745 | PKHD1 | c.6217G>T (p.Gly2073Trp) c.5575G>T (p.Gly1859Trp) c.5506G>T (p.Gly1836Trp) c.292G>T (p.Gly98Trp) c.6142G>T (p.Gly2048Trp) c.5953G>T (p.Gly1985Trp) c.4357G>T (p.Gly1453Trp) n.6493G>T | |
| 6 | g.51912481C= | CA1628583411 | PKHD1 | c.6217G= (p.Gly2073=) c.5575G= (p.Gly1859=) c.5506G= (p.Gly1836=) c.292G= (p.Gly98=) c.6142G= (p.Gly2048=) c.5953G= (p.Gly1985=) c.4357G= (p.Gly1453=) n.6493G= | |
| 6 | g.51912481C>G | CA364439747 | PKHD1 | c.6217G>C (p.Gly2073Arg) c.5575G>C (p.Gly1859Arg) c.5506G>C (p.Gly1836Arg) c.292G>C (p.Gly98Arg) c.6142G>C (p.Gly2048Arg) c.5953G>C (p.Gly1985Arg) c.4357G>C (p.Gly1453Arg) n.6493G>C | |
| 6 | g.51912481C>T | CA3852312 | PKHD1 | c.6217G>A (p.Gly2073Arg) c.5575G>A (p.Gly1859Arg) c.5506G>A (p.Gly1836Arg) c.292G>A (p.Gly98Arg) c.6142G>A (p.Gly2048Arg) c.5953G>A (p.Gly1985Arg) c.4357G>A (p.Gly1453Arg) n.6493G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912482A= | CA1628583422 | PKHD1 | c.6216T= (p.Pro2072=) c.5574T= (p.Pro1858=) c.5505T= (p.Pro1835=) c.291T= (p.Pro97=) c.6141T= (p.Pro2047=) c.5952T= (p.Pro1984=) c.4356T= (p.Pro1452=) n.6492T= | |
| 6 | g.51912482A>C | CA244961 | PKHD1 | c.6216T>G (p.Pro2072=) c.5574T>G (p.Pro1858=) c.5505T>G (p.Pro1835=) c.291T>G (p.Pro97=) c.6141T>G (p.Pro2047=) c.5952T>G (p.Pro1984=) c.4356T>G (p.Pro1452=) n.6492T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912482A>G | CA450415988 | PKHD1 | c.6216T>C (p.Pro2072=) c.5574T>C (p.Pro1858=) c.5505T>C (p.Pro1835=) c.291T>C (p.Pro97=) c.6141T>C (p.Pro2047=) c.5952T>C (p.Pro1984=) c.4356T>C (p.Pro1452=) n.6492T>C | dbSNP |
| 6 | g.51912482A>T | CA450415989 | PKHD1 | c.6216T>A (p.Pro2072=) c.5574T>A (p.Pro1858=) c.5505T>A (p.Pro1835=) c.291T>A (p.Pro97=) c.6141T>A (p.Pro2047=) c.5952T>A (p.Pro1984=) c.4356T>A (p.Pro1452=) n.6492T>A | |
| 6 | g.51912483G>A | CA364439757 | PKHD1 | c.6215C>T (p.Pro2072Leu) c.5573C>T (p.Pro1858Leu) c.5504C>T (p.Pro1835Leu) c.290C>T (p.Pro97Leu) c.6140C>T (p.Pro2047Leu) c.5951C>T (p.Pro1984Leu) c.4355C>T (p.Pro1452Leu) n.6491C>T | COSMIC COSMIC |
| 6 | g.51912483G>C | CA364439755 | PKHD1 | c.6215C>G (p.Pro2072Arg) c.5573C>G (p.Pro1858Arg) c.5504C>G (p.Pro1835Arg) c.290C>G (p.Pro97Arg) c.6140C>G (p.Pro2047Arg) c.5951C>G (p.Pro1984Arg) c.4355C>G (p.Pro1452Arg) n.6491C>G | gnomAD v4 |
| 6 | g.51912483G>T | CA364439752 | PKHD1 | c.6215C>A (p.Pro2072His) c.5573C>A (p.Pro1858His) c.5504C>A (p.Pro1835His) c.290C>A (p.Pro97His) c.6140C>A (p.Pro2047His) c.5951C>A (p.Pro1984His) c.4355C>A (p.Pro1452His) n.6491C>A | COSMIC COSMIC |
| 6 | g.51912484G>A | CA364439759 | PKHD1 | c.6214C>T (p.Pro2072Ser) c.5572C>T (p.Pro1858Ser) c.5503C>T (p.Pro1835Ser) c.289C>T (p.Pro97Ser) c.6139C>T (p.Pro2047Ser) c.5950C>T (p.Pro1984Ser) c.4354C>T (p.Pro1452Ser) n.6490C>T | |
| 6 | g.51912484G>C | CA364439764 | PKHD1 | c.6214C>G (p.Pro2072Ala) c.5572C>G (p.Pro1858Ala) c.5503C>G (p.Pro1835Ala) c.289C>G (p.Pro97Ala) c.6139C>G (p.Pro2047Ala) c.5950C>G (p.Pro1984Ala) c.4354C>G (p.Pro1452Ala) n.6490C>G | |
| 6 | g.51912484G>T | CA364439762 | PKHD1 | c.6214C>A (p.Pro2072Thr) c.5572C>A (p.Pro1858Thr) c.5503C>A (p.Pro1835Thr) c.289C>A (p.Pro97Thr) c.6139C>A (p.Pro2047Thr) c.5950C>A (p.Pro1984Thr) c.4354C>A (p.Pro1452Thr) n.6490C>A | |
| 6 | g.51912485G>A | CA450415990 | PKHD1 | c.6213C>T (p.Asn2071=) c.5571C>T (p.Asn1857=) c.5502C>T (p.Asn1834=) c.288C>T (p.Asn96=) c.6138C>T (p.Asn2046=) c.5949C>T (p.Asn1983=) c.4353C>T (p.Asn1451=) n.6489C>T | gnomAD v4 |
| 6 | g.51912485G>C | CA364439767 | PKHD1 | c.6213C>G (p.Asn2071Lys) c.5571C>G (p.Asn1857Lys) c.5502C>G (p.Asn1834Lys) c.288C>G (p.Asn96Lys) c.6138C>G (p.Asn2046Lys) c.5949C>G (p.Asn1983Lys) c.4353C>G (p.Asn1451Lys) n.6489C>G | |
| 6 | g.51912485G>T | CA364439769 | PKHD1 | c.6213C>A (p.Asn2071Lys) c.5571C>A (p.Asn1857Lys) c.5502C>A (p.Asn1834Lys) c.288C>A (p.Asn96Lys) c.6138C>A (p.Asn2046Lys) c.5949C>A (p.Asn1983Lys) c.4353C>A (p.Asn1451Lys) n.6489C>A | |
| 6 | g.51912486T>A | CA364439770 | PKHD1 | c.6212A>T (p.Asn2071Ile) c.5570A>T (p.Asn1857Ile) c.5501A>T (p.Asn1834Ile) c.287A>T (p.Asn96Ile) c.6137A>T (p.Asn2046Ile) c.5948A>T (p.Asn1983Ile) c.4352A>T (p.Asn1451Ile) n.6488A>T | |
| 6 | g.51912486T>C | CA364439772 | PKHD1 | c.6212A>G (p.Asn2071Ser) c.5570A>G (p.Asn1857Ser) c.5501A>G (p.Asn1834Ser) c.287A>G (p.Asn96Ser) c.6137A>G (p.Asn2046Ser) c.5948A>G (p.Asn1983Ser) c.4352A>G (p.Asn1451Ser) n.6488A>G | |
| 6 | g.51912486T>G | CA364439773 | PKHD1 | c.6212A>C (p.Asn2071Thr) c.5570A>C (p.Asn1857Thr) c.5501A>C (p.Asn1834Thr) c.287A>C (p.Asn96Thr) c.6137A>C (p.Asn2046Thr) c.5948A>C (p.Asn1983Thr) c.4352A>C (p.Asn1451Thr) n.6488A>C | |
| 6 | g.51912487T>A | CA364439776 | PKHD1 | c.6211A>T (p.Asn2071Tyr) c.5569A>T (p.Asn1857Tyr) c.5500A>T (p.Asn1834Tyr) c.286A>T (p.Asn96Tyr) c.6136A>T (p.Asn2046Tyr) c.5947A>T (p.Asn1983Tyr) c.4351A>T (p.Asn1451Tyr) n.6487A>T | gnomAD v4 |
| 6 | g.51912487T>C | CA364439778 | PKHD1 | c.6211A>G (p.Asn2071Asp) c.5569A>G (p.Asn1857Asp) c.5500A>G (p.Asn1834Asp) c.286A>G (p.Asn96Asp) c.6136A>G (p.Asn2046Asp) c.5947A>G (p.Asn1983Asp) c.4351A>G (p.Asn1451Asp) n.6487A>G | |
| 6 | g.51912487T>G | CA3852313 | PKHD1 | c.6211A>C (p.Asn2071His) c.5569A>C (p.Asn1857His) c.5500A>C (p.Asn1834His) c.286A>C (p.Asn96His) c.6136A>C (p.Asn2046His) c.5947A>C (p.Asn1983His) c.4351A>C (p.Asn1451His) n.6487A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912487T= | CA1628583427 | PKHD1 | c.6211A= (p.Asn2071=) c.5569A= (p.Asn1857=) c.5500A= (p.Asn1834=) c.286A= (p.Asn96=) c.6136A= (p.Asn2046=) c.5947A= (p.Asn1983=) c.4351A= (p.Asn1451=) n.6487A= | |
| 6 | g.51912488C>A | CA364439784 | PKHD1 | c.6210G>T (p.Trp2070Cys) c.5568G>T (p.Trp1856Cys) c.5499G>T (p.Trp1833Cys) c.285G>T (p.Trp95Cys) c.6135G>T (p.Trp2045Cys) c.5946G>T (p.Trp1982Cys) c.4350G>T (p.Trp1450Cys) n.6486G>T | |
| 6 | g.51912488C>G | CA364439786 | PKHD1 | c.6210G>C (p.Trp2070Cys) c.5568G>C (p.Trp1856Cys) c.5499G>C (p.Trp1833Cys) c.285G>C (p.Trp95Cys) c.6135G>C (p.Trp2045Cys) c.5946G>C (p.Trp1982Cys) c.4350G>C (p.Trp1450Cys) n.6486G>C | |
| 6 | g.51912488C>T | CA364439787 | PKHD1 | c.6210G>A (p.Trp2070Ter) c.5568G>A (p.Trp1856Ter) c.5499G>A (p.Trp1833Ter) c.285G>A (p.Trp95Ter) c.6135G>A (p.Trp2045Ter) c.5946G>A (p.Trp1982Ter) c.4350G>A (p.Trp1450Ter) n.6486G>A | ClinVar |
| 6 | g.51912489dup | CA138910847 | PKHD1 | c.6210dup (p.Asn2071GlufsTer5) c.5568dup (p.Asn1857GlufsTer5) c.5499dup (p.Asn1834GlufsTer5) c.285dup (p.Asn96GlufsTer5) c.6135dup (p.Asn2046GlufsTer5) c.5946dup (p.Asn1983GlufsTer5) c.4350dup (p.Asn1451GlufsTer5) n.6486dup | dbSNP |
| 6 | g.51912489C>A | CA364439794 | PKHD1 | c.6209G>T (p.Trp2070Leu) c.5567G>T (p.Trp1856Leu) c.5498G>T (p.Trp1833Leu) c.284G>T (p.Trp95Leu) c.6134G>T (p.Trp2045Leu) c.5945G>T (p.Trp1982Leu) c.4349G>T (p.Trp1450Leu) n.6485G>T | |
| 6 | g.51912489C>G | CA364439790 | PKHD1 | c.6209G>C (p.Trp2070Ser) c.5567G>C (p.Trp1856Ser) c.5498G>C (p.Trp1833Ser) c.284G>C (p.Trp95Ser) c.6134G>C (p.Trp2045Ser) c.5945G>C (p.Trp1982Ser) c.4349G>C (p.Trp1450Ser) n.6485G>C | |
| 6 | g.51912489C>T | CA364439792 | PKHD1 | c.6209G>A (p.Trp2070Ter) c.5567G>A (p.Trp1856Ter) c.5498G>A (p.Trp1833Ter) c.284G>A (p.Trp95Ter) c.6134G>A (p.Trp2045Ter) c.5945G>A (p.Trp1982Ter) c.4349G>A (p.Trp1450Ter) n.6485G>A | ClinVar |
| 6 | g.51912490A>C | CA364439797 | PKHD1 | c.6208T>G (p.Trp2070Gly) c.5566T>G (p.Trp1856Gly) c.5497T>G (p.Trp1833Gly) c.283T>G (p.Trp95Gly) c.6133T>G (p.Trp2045Gly) c.5944T>G (p.Trp1982Gly) c.4348T>G (p.Trp1450Gly) n.6484T>G | |
| 6 | g.51912490A>G | CA364439798 | PKHD1 | c.6208T>C (p.Trp2070Arg) c.5566T>C (p.Trp1856Arg) c.5497T>C (p.Trp1833Arg) c.283T>C (p.Trp95Arg) c.6133T>C (p.Trp2045Arg) c.5944T>C (p.Trp1982Arg) c.4348T>C (p.Trp1450Arg) n.6484T>C | |
| 6 | g.51912490A>T | CA364439800 | PKHD1 | c.6208T>A (p.Trp2070Arg) c.5566T>A (p.Trp1856Arg) c.5497T>A (p.Trp1833Arg) c.283T>A (p.Trp95Arg) c.6133T>A (p.Trp2045Arg) c.5944T>A (p.Trp1982Arg) c.4348T>A (p.Trp1450Arg) n.6484T>A | |
| 6 | g.51912491G>A | CA450415991 | PKHD1 | c.6207C>T (p.Asp2069=) c.5565C>T (p.Asp1855=) c.5496C>T (p.Asp1832=) c.282C>T (p.Asp94=) c.6132C>T (p.Asp2044=) c.5943C>T (p.Asp1981=) c.4347C>T (p.Asp1449=) n.6483C>T | |
| 6 | g.51912491G>C | CA364439802 | PKHD1 | c.6207C>G (p.Asp2069Glu) c.5565C>G (p.Asp1855Glu) c.5496C>G (p.Asp1832Glu) c.282C>G (p.Asp94Glu) c.6132C>G (p.Asp2044Glu) c.5943C>G (p.Asp1981Glu) c.4347C>G (p.Asp1449Glu) n.6483C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912491G= | CA1628583434 | PKHD1 | c.6207C= (p.Asp2069=) c.5565C= (p.Asp1855=) c.5496C= (p.Asp1832=) c.282C= (p.Asp94=) c.6132C= (p.Asp2044=) c.5943C= (p.Asp1981=) c.4347C= (p.Asp1449=) n.6483C= |