| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024922del | CA16041051 | PKHD1 | c.4890del (p.Asn1631MetfsTer8) c.4248del (p.Asn1417MetfsTer8) c.4179del (p.Asn1394MetfsTer8) c.4815del (p.Asn1606MetfsTer8) c.4626del (p.Asn1543MetfsTer8) c.3030del (p.Asn1011MetfsTer8) n.5166del | ClinVar dbSNP |
| 6 | g.52024922C>A | CA364430802 | PKHD1 | c.4888G>T (p.Gly1630Trp) c.4246G>T (p.Gly1416Trp) c.4177G>T (p.Gly1393Trp) c.4813G>T (p.Gly1605Trp) c.4624G>T (p.Gly1542Trp) c.3028G>T (p.Gly1010Trp) n.5164G>T | |
| 6 | g.52024922C= | CA1628646870 | PKHD1 | c.4888G= (p.Gly1630=) c.4246G= (p.Gly1416=) c.4177G= (p.Gly1393=) c.4813G= (p.Gly1605=) c.4624G= (p.Gly1542=) c.3028G= (p.Gly1010=) n.5164G= | |
| 6 | g.52024922C>G | CA364430806 | PKHD1 | c.4888G>C (p.Gly1630Arg) c.4246G>C (p.Gly1416Arg) c.4177G>C (p.Gly1393Arg) c.4813G>C (p.Gly1605Arg) c.4624G>C (p.Gly1542Arg) c.3028G>C (p.Gly1010Arg) n.5164G>C | |
| 6 | g.52024922C>T | CA3852645 | PKHD1 | c.4888G>A (p.Gly1630Arg) c.4246G>A (p.Gly1416Arg) c.4177G>A (p.Gly1393Arg) c.4813G>A (p.Gly1605Arg) c.4624G>A (p.Gly1542Arg) c.3028G>A (p.Gly1010Arg) n.5164G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024923T>A | CA450613944 | PKHD1 | c.4887A>T (p.Thr1629=) c.4245A>T (p.Thr1415=) c.4176A>T (p.Thr1392=) c.4812A>T (p.Thr1604=) c.4623A>T (p.Thr1541=) c.3027A>T (p.Thr1009=) n.5163A>T | |
| 6 | g.52024923T>C | CA450613945 | PKHD1 | c.4887A>G (p.Thr1629=) c.4245A>G (p.Thr1415=) c.4176A>G (p.Thr1392=) c.4812A>G (p.Thr1604=) c.4623A>G (p.Thr1541=) c.3027A>G (p.Thr1009=) n.5163A>G | |
| 6 | g.52024923T>G | CA450613946 | PKHD1 | c.4887A>C (p.Thr1629=) c.4245A>C (p.Thr1415=) c.4176A>C (p.Thr1392=) c.4812A>C (p.Thr1604=) c.4623A>C (p.Thr1541=) c.3027A>C (p.Thr1009=) n.5163A>C | |
| 6 | g.52024924G>A | CA3852646 | PKHD1 | c.4886C>T (p.Thr1629Ile) c.4244C>T (p.Thr1415Ile) c.4175C>T (p.Thr1392Ile) c.4811C>T (p.Thr1604Ile) c.4622C>T (p.Thr1541Ile) c.3026C>T (p.Thr1009Ile) n.5162C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024924G>C | CA364430819 | PKHD1 | c.4886C>G (p.Thr1629Arg) c.4244C>G (p.Thr1415Arg) c.4175C>G (p.Thr1392Arg) c.4811C>G (p.Thr1604Arg) c.4622C>G (p.Thr1541Arg) c.3026C>G (p.Thr1009Arg) n.5162C>G | |
| 6 | g.52024924G= | CA1628646873 | PKHD1 | c.4886C= (p.Thr1629=) c.4244C= (p.Thr1415=) c.4175C= (p.Thr1392=) c.4811C= (p.Thr1604=) c.4622C= (p.Thr1541=) c.3026C= (p.Thr1009=) n.5162C= | |
| 6 | g.52024924G>T | CA364430821 | PKHD1 | c.4886C>A (p.Thr1629Lys) c.4244C>A (p.Thr1415Lys) c.4175C>A (p.Thr1392Lys) c.4811C>A (p.Thr1604Lys) c.4622C>A (p.Thr1541Lys) c.3026C>A (p.Thr1009Lys) n.5162C>A | |
| 6 | g.52024925T>A | CA364430826 | PKHD1 | c.4885A>T (p.Thr1629Ser) c.4243A>T (p.Thr1415Ser) c.4174A>T (p.Thr1392Ser) c.4810A>T (p.Thr1604Ser) c.4621A>T (p.Thr1541Ser) c.3025A>T (p.Thr1009Ser) n.5161A>T | |
| 6 | g.52024925T>C | CA3852647 | PKHD1 | c.4885A>G (p.Thr1629Ala) c.4243A>G (p.Thr1415Ala) c.4174A>G (p.Thr1392Ala) c.4810A>G (p.Thr1604Ala) c.4621A>G (p.Thr1541Ala) c.3025A>G (p.Thr1009Ala) n.5161A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024925T>G | CA364430829 | PKHD1 | c.4885A>C (p.Thr1629Pro) c.4243A>C (p.Thr1415Pro) c.4174A>C (p.Thr1392Pro) c.4810A>C (p.Thr1604Pro) c.4621A>C (p.Thr1541Pro) c.3025A>C (p.Thr1009Pro) n.5161A>C | |
| 6 | g.52024925T= | CA1628646876 | PKHD1 | c.4885A= (p.Thr1629=) c.4243A= (p.Thr1415=) c.4174A= (p.Thr1392=) c.4810A= (p.Thr1604=) c.4621A= (p.Thr1541=) c.3025A= (p.Thr1009=) n.5161A= | |
| 6 | g.52024926G>A | CA450613947 | PKHD1 | c.4884C>T (p.Pro1628=) c.4242C>T (p.Pro1414=) c.4173C>T (p.Pro1391=) c.4809C>T (p.Pro1603=) c.4620C>T (p.Pro1540=) c.3024C>T (p.Pro1008=) n.5160C>T | |
| 6 | g.52024926G>C | CA450613948 | PKHD1 | c.4884C>G (p.Pro1628=) c.4242C>G (p.Pro1414=) c.4173C>G (p.Pro1391=) c.4809C>G (p.Pro1603=) c.4620C>G (p.Pro1540=) c.3024C>G (p.Pro1008=) n.5160C>G | dbSNP |
| 6 | g.52024926G>T | CA450613949 | PKHD1 | c.4884C>A (p.Pro1628=) c.4242C>A (p.Pro1414=) c.4173C>A (p.Pro1391=) c.4809C>A (p.Pro1603=) c.4620C>A (p.Pro1540=) c.3024C>A (p.Pro1008=) n.5160C>A | |
| 6 | g.52024928del | CA2679084933 | PKHD1 | c.4884del (p.Thr1629GlnfsTer10) c.4242del (p.Thr1415GlnfsTer10) c.4173del (p.Thr1392GlnfsTer10) c.4809del (p.Thr1604GlnfsTer10) c.4620del (p.Thr1541GlnfsTer10) c.3024del (p.Thr1009GlnfsTer10) n.5160del | gnomAD v4 |
| 6 | g.52024927G>A | CA364430831 | PKHD1 | c.4883C>T (p.Pro1628Leu) c.4241C>T (p.Pro1414Leu) c.4172C>T (p.Pro1391Leu) c.4808C>T (p.Pro1603Leu) c.4619C>T (p.Pro1540Leu) c.3023C>T (p.Pro1008Leu) n.5159C>T | gnomAD v4 COSMIC COSMIC |
| 6 | g.52024927G>C | CA364430835 | PKHD1 | c.4883C>G (p.Pro1628Arg) c.4241C>G (p.Pro1414Arg) c.4172C>G (p.Pro1391Arg) c.4808C>G (p.Pro1603Arg) c.4619C>G (p.Pro1540Arg) c.3023C>G (p.Pro1008Arg) n.5159C>G | |
| 6 | g.52024927G>T | CA364430837 | PKHD1 | c.4883C>A (p.Pro1628His) c.4241C>A (p.Pro1414His) c.4172C>A (p.Pro1391His) c.4808C>A (p.Pro1603His) c.4619C>A (p.Pro1540His) c.3023C>A (p.Pro1008His) n.5159C>A | |
| 6 | g.52024928G>A | CA138946306 | PKHD1 | c.4882C>T (p.Pro1628Ser) c.4240C>T (p.Pro1414Ser) c.4171C>T (p.Pro1391Ser) c.4807C>T (p.Pro1603Ser) c.4618C>T (p.Pro1540Ser) c.3022C>T (p.Pro1008Ser) n.5158C>T | dbSNP gnomAD v4 |
| 6 | g.52024928G>C | CA3852648 | PKHD1 | c.4882C>G (p.Pro1628Ala) c.4240C>G (p.Pro1414Ala) c.4171C>G (p.Pro1391Ala) c.4807C>G (p.Pro1603Ala) c.4618C>G (p.Pro1540Ala) c.3022C>G (p.Pro1008Ala) n.5158C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024928G= | CA1628646880 | PKHD1 | c.4882C= (p.Pro1628=) c.4240C= (p.Pro1414=) c.4171C= (p.Pro1391=) c.4807C= (p.Pro1603=) c.4618C= (p.Pro1540=) c.3022C= (p.Pro1008=) n.5158C= | |
| 6 | g.52024928G>T | CA364430840 | PKHD1 | c.4882C>A (p.Pro1628Thr) c.4240C>A (p.Pro1414Thr) c.4171C>A (p.Pro1391Thr) c.4807C>A (p.Pro1603Thr) c.4618C>A (p.Pro1540Thr) c.3022C>A (p.Pro1008Thr) n.5158C>A | |
| 6 | g.52024929A>C | CA450613951 | PKHD1 | c.4881T>G (p.Val1627=) c.4239T>G (p.Val1413=) c.4170T>G (p.Val1390=) c.4806T>G (p.Val1602=) c.4617T>G (p.Val1539=) c.3021T>G (p.Val1007=) n.5157T>G | |
| 6 | g.52024929A>G | CA450613952 | PKHD1 | c.4881T>C (p.Val1627=) c.4239T>C (p.Val1413=) c.4170T>C (p.Val1390=) c.4806T>C (p.Val1602=) c.4617T>C (p.Val1539=) c.3021T>C (p.Val1007=) n.5157T>C | |
| 6 | g.52024929A>T | CA450613950 | PKHD1 | c.4881T>A (p.Val1627=) c.4239T>A (p.Val1413=) c.4170T>A (p.Val1390=) c.4806T>A (p.Val1602=) c.4617T>A (p.Val1539=) c.3021T>A (p.Val1007=) n.5157T>A | |
| 6 | g.52024930A= | CA1628646883 | PKHD1 | c.4880T= (p.Val1627=) c.4238T= (p.Val1413=) c.4169T= (p.Val1390=) c.4805T= (p.Val1602=) c.4616T= (p.Val1539=) c.3020T= (p.Val1007=) n.5156T= | |
| 6 | g.52024930A>C | CA364430855 | PKHD1 | c.4880T>G (p.Val1627Gly) c.4238T>G (p.Val1413Gly) c.4169T>G (p.Val1390Gly) c.4805T>G (p.Val1602Gly) c.4616T>G (p.Val1539Gly) c.3020T>G (p.Val1007Gly) n.5156T>G | |
| 6 | g.52024930A>G | CA364430857 | PKHD1 | c.4880T>C (p.Val1627Ala) c.4238T>C (p.Val1413Ala) c.4169T>C (p.Val1390Ala) c.4805T>C (p.Val1602Ala) c.4616T>C (p.Val1539Ala) c.3020T>C (p.Val1007Ala) n.5156T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.52024930A>T | CA364430860 | PKHD1 | c.4880T>A (p.Val1627Asp) c.4238T>A (p.Val1413Asp) c.4169T>A (p.Val1390Asp) c.4805T>A (p.Val1602Asp) c.4616T>A (p.Val1539Asp) c.3020T>A (p.Val1007Asp) n.5156T>A | |
| 6 | g.52024931C>A | CA364430864 | PKHD1 | c.4879G>T (p.Val1627Phe) c.4237G>T (p.Val1413Phe) c.4168G>T (p.Val1390Phe) c.4804G>T (p.Val1602Phe) c.4615G>T (p.Val1539Phe) c.3019G>T (p.Val1007Phe) n.5155G>T | |
| 6 | g.52024931C>G | CA364430866 | PKHD1 | c.4879G>C (p.Val1627Leu) c.4237G>C (p.Val1413Leu) c.4168G>C (p.Val1390Leu) c.4804G>C (p.Val1602Leu) c.4615G>C (p.Val1539Leu) c.3019G>C (p.Val1007Leu) n.5155G>C | |
| 6 | g.52024931C>T | CA364430868 | PKHD1 | c.4879G>A (p.Val1627Ile) c.4237G>A (p.Val1413Ile) c.4168G>A (p.Val1390Ile) c.4804G>A (p.Val1602Ile) c.4615G>A (p.Val1539Ile) c.3019G>A (p.Val1007Ile) n.5155G>A | |
| 6 | g.52024932A>C | CA364430872 | PKHD1 | c.4878T>G (p.Ile1626Met) c.4236T>G (p.Ile1412Met) c.4167T>G (p.Ile1389Met) c.4803T>G (p.Ile1601Met) c.4614T>G (p.Ile1538Met) c.3018T>G (p.Ile1006Met) n.5154T>G | |
| 6 | g.52024932A>G | CA450613953 | PKHD1 | c.4878T>C (p.Ile1626=) c.4236T>C (p.Ile1412=) c.4167T>C (p.Ile1389=) c.4803T>C (p.Ile1601=) c.4614T>C (p.Ile1538=) c.3018T>C (p.Ile1006=) n.5154T>C | |
| 6 | g.52024932A>T | CA450613954 | PKHD1 | c.4878T>A (p.Ile1626=) c.4236T>A (p.Ile1412=) c.4167T>A (p.Ile1389=) c.4803T>A (p.Ile1601=) c.4614T>A (p.Ile1538=) c.3018T>A (p.Ile1006=) n.5154T>A | |
| 6 | g.52024933A>C | CA364430875 | PKHD1 | c.4877T>G (p.Ile1626Ser) c.4235T>G (p.Ile1412Ser) c.4166T>G (p.Ile1389Ser) c.4802T>G (p.Ile1601Ser) c.4613T>G (p.Ile1538Ser) c.3017T>G (p.Ile1006Ser) n.5153T>G | |
| 6 | g.52024933A>G | CA364430877 | PKHD1 | c.4877T>C (p.Ile1626Thr) c.4235T>C (p.Ile1412Thr) c.4166T>C (p.Ile1389Thr) c.4802T>C (p.Ile1601Thr) c.4613T>C (p.Ile1538Thr) c.3017T>C (p.Ile1006Thr) n.5153T>C | |
| 6 | g.52024933A>T | CA364430880 | PKHD1 | c.4877T>A (p.Ile1626Asn) c.4235T>A (p.Ile1412Asn) c.4166T>A (p.Ile1389Asn) c.4802T>A (p.Ile1601Asn) c.4613T>A (p.Ile1538Asn) c.3017T>A (p.Ile1006Asn) n.5153T>A | |
| 6 | g.52024934T>A | CA3852649 | PKHD1 | c.4876A>T (p.Ile1626Phe) c.4234A>T (p.Ile1412Phe) c.4165A>T (p.Ile1389Phe) c.4801A>T (p.Ile1601Phe) c.4612A>T (p.Ile1538Phe) c.3016A>T (p.Ile1006Phe) n.5152A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024934T>C | CA10604837 | PKHD1 | c.4876A>G (p.Ile1626Val) c.4234A>G (p.Ile1412Val) c.4165A>G (p.Ile1389Val) c.4801A>G (p.Ile1601Val) c.4612A>G (p.Ile1538Val) c.3016A>G (p.Ile1006Val) n.5152A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024934T>G | CA364430886 | PKHD1 | c.4876A>C (p.Ile1626Leu) c.4234A>C (p.Ile1412Leu) c.4165A>C (p.Ile1389Leu) c.4801A>C (p.Ile1601Leu) c.4612A>C (p.Ile1538Leu) c.3016A>C (p.Ile1006Leu) n.5152A>C | |
| 6 | g.52024934T= | CA1628646886 | PKHD1 | c.4876A= (p.Ile1626=) c.4234A= (p.Ile1412=) c.4165A= (p.Ile1389=) c.4801A= (p.Ile1601=) c.4612A= (p.Ile1538=) c.3016A= (p.Ile1006=) n.5152A= | |
| 6 | g.52024935G>A | CA450613959 | PKHD1 | c.4875C>T (p.Cys1625=) c.4233C>T (p.Cys1411=) c.4164C>T (p.Cys1388=) c.4800C>T (p.Cys1600=) c.4611C>T (p.Cys1537=) c.3015C>T (p.Cys1005=) n.5151C>T | |
| 6 | g.52024935G>C | CA364430896 | PKHD1 | c.4875C>G (p.Cys1625Trp) c.4233C>G (p.Cys1411Trp) c.4164C>G (p.Cys1388Trp) c.4800C>G (p.Cys1600Trp) c.4611C>G (p.Cys1537Trp) c.3015C>G (p.Cys1005Trp) n.5151C>G | |
| 6 | g.52024935G>T | CA364430894 | PKHD1 | c.4875C>A (p.Cys1625Ter) c.4233C>A (p.Cys1411Ter) c.4164C>A (p.Cys1388Ter) c.4800C>A (p.Cys1600Ter) c.4611C>A (p.Cys1537Ter) c.3015C>A (p.Cys1005Ter) n.5151C>A |