| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025076_52025077delinsAT | CA1628647133 | PKHD1 | c.4733_4734delinsAT (p.Tyr1578=) c.4102-11_4102-10delinsAT (n.4102-11_4102-10delinsAT) c.4022_4023delinsAT (p.Tyr1341=) c.4658_4659delinsAT (p.Tyr1553=) c.4469_4470delinsAT (p.Tyr1490=) c.2873_2874delinsAT (p.Tyr958=) n.5009_5010delinsAT | |
| 6 | g.52025077del | CA234573 | PKHD1 | c.4733del (p.Tyr1578PhefsTer14) c.4102-11del (n.4102-11del) c.4022del (p.Tyr1341PhefsTer14) c.4658del (p.Tyr1553PhefsTer14) c.4469del (p.Tyr1490PhefsTer14) c.2873del (p.Tyr958PhefsTer14) n.5009del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025077T>A | CA364431615 | PKHD1 | c.4733A>T (p.Tyr1578Phe) c.4102-11A>T (n.4102-11A>T) c.4022A>T (p.Tyr1341Phe) c.4658A>T (p.Tyr1553Phe) c.4469A>T (p.Tyr1490Phe) c.2873A>T (p.Tyr958Phe) n.5009A>T | |
| 6 | g.52025077T>C | CA364431616 | PKHD1 | c.4733A>G (p.Tyr1578Cys) c.4102-11A>G (n.4102-11A>G) c.4022A>G (p.Tyr1341Cys) c.4658A>G (p.Tyr1553Cys) c.4469A>G (p.Tyr1490Cys) c.2873A>G (p.Tyr958Cys) n.5009A>G | |
| 6 | g.52025077T>G | CA364431617 | PKHD1 | c.4733A>C (p.Tyr1578Ser) c.4102-11A>C (n.4102-11A>C) c.4022A>C (p.Tyr1341Ser) c.4658A>C (p.Tyr1553Ser) c.4469A>C (p.Tyr1490Ser) c.2873A>C (p.Tyr958Ser) n.5009A>C | |
| 6 | g.52025078A>C | CA364431618 | PKHD1 | c.4732T>G (p.Tyr1578Asp) c.4102-12T>G (n.4102-12T>G) c.4021T>G (p.Tyr1341Asp) c.4657T>G (p.Tyr1553Asp) c.4468T>G (p.Tyr1490Asp) c.2872T>G (p.Tyr958Asp) n.5008T>G | |
| 6 | g.52025078A>G | CA364431621 | PKHD1 | c.4732T>C (p.Tyr1578His) c.4102-12T>C (n.4102-12T>C) c.4021T>C (p.Tyr1341His) c.4657T>C (p.Tyr1553His) c.4468T>C (p.Tyr1490His) c.2872T>C (p.Tyr958His) n.5008T>C | |
| 6 | g.52025078A>T | CA364431619 | PKHD1 | c.4732T>A (p.Tyr1578Asn) c.4102-12T>A (n.4102-12T>A) c.4021T>A (p.Tyr1341Asn) c.4657T>A (p.Tyr1553Asn) c.4468T>A (p.Tyr1490Asn) c.2872T>A (p.Tyr958Asn) n.5008T>A | gnomAD v4 |
| 6 | g.52025079A>C | CA364431623 | PKHD1 | c.4731T>G (p.His1577Gln) c.4102-13T>G (n.4102-13T>G) c.4020T>G (p.His1340Gln) c.4656T>G (p.His1552Gln) c.4467T>G (p.His1489Gln) c.2871T>G (p.His957Gln) n.5007T>G | |
| 6 | g.52025079A>G | CA450614184 | PKHD1 | c.4731T>C (p.His1577=) c.4102-13T>C (n.4102-13T>C) c.4020T>C (p.His1340=) c.4656T>C (p.His1552=) c.4467T>C (p.His1489=) c.2871T>C (p.His957=) n.5007T>C | |
| 6 | g.52025079A>T | CA364431624 | PKHD1 | c.4731T>A (p.His1577Gln) c.4102-13T>A (n.4102-13T>A) c.4020T>A (p.His1340Gln) c.4656T>A (p.His1552Gln) c.4467T>A (p.His1489Gln) c.2871T>A (p.His957Gln) n.5007T>A | |
| 6 | g.52025080T>A | CA364431626 | PKHD1 | c.4730A>T (p.His1577Leu) c.4102-14A>T (n.4102-14A>T) c.4019A>T (p.His1340Leu) c.4655A>T (p.His1552Leu) c.4466A>T (p.His1489Leu) c.2870A>T (p.His957Leu) n.5006A>T | |
| 6 | g.52025080T>C | CA364431627 | PKHD1 | c.4730A>G (p.His1577Arg) c.4102-14A>G (n.4102-14A>G) c.4019A>G (p.His1340Arg) c.4655A>G (p.His1552Arg) c.4466A>G (p.His1489Arg) c.2870A>G (p.His957Arg) n.5006A>G | |
| 6 | g.52025080T>G | CA364431629 | PKHD1 | c.4730A>C (p.His1577Pro) c.4102-14A>C (n.4102-14A>C) c.4019A>C (p.His1340Pro) c.4655A>C (p.His1552Pro) c.4466A>C (p.His1489Pro) c.2870A>C (p.His957Pro) n.5006A>C | |
| 6 | g.52025081G>A | CA364431632 | PKHD1 | c.4729C>T (p.His1577Tyr) c.4102-15C>T (n.4102-15C>T) c.4018C>T (p.His1340Tyr) c.4654C>T (p.His1552Tyr) c.4465C>T (p.His1489Tyr) c.2869C>T (p.His957Tyr) n.5005C>T | |
| 6 | g.52025081G>C | CA364431633 | PKHD1 | c.4729C>G (p.His1577Asp) c.4102-15C>G (n.4102-15C>G) c.4018C>G (p.His1340Asp) c.4654C>G (p.His1552Asp) c.4465C>G (p.His1489Asp) c.2869C>G (p.His957Asp) n.5005C>G | |
| 6 | g.52025081G>T | CA364431635 | PKHD1 | c.4729C>A (p.His1577Asn) c.4102-15C>A (n.4102-15C>A) c.4018C>A (p.His1340Asn) c.4654C>A (p.His1552Asn) c.4465C>A (p.His1489Asn) c.2869C>A (p.His957Asn) n.5005C>A | |
| 6 | g.52025082A= | CA1628647138 | PKHD1 | c.4728T= (p.Phe1576=) c.4102-16T= (n.4102-16T=) c.4017T= (p.Phe1339=) c.4653T= (p.Phe1551=) c.4464T= (p.Phe1488=) c.2868T= (p.Phe956=) n.5004T= | |
| 6 | g.52025082A>C | CA364431637 | PKHD1 | c.4728T>G (p.Phe1576Leu) c.4102-16T>G (n.4102-16T>G) c.4017T>G (p.Phe1339Leu) c.4653T>G (p.Phe1551Leu) c.4464T>G (p.Phe1488Leu) c.2868T>G (p.Phe956Leu) n.5004T>G | |
| 6 | g.52025082A>G | CA3852677 | PKHD1 | c.4728T>C (p.Phe1576=) c.4102-16T>C (n.4102-16T>C) c.4017T>C (p.Phe1339=) c.4653T>C (p.Phe1551=) c.4464T>C (p.Phe1488=) c.2868T>C (p.Phe956=) n.5004T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025082A>T | CA364431639 | PKHD1 | c.4728T>A (p.Phe1576Leu) c.4102-16T>A (n.4102-16T>A) c.4017T>A (p.Phe1339Leu) c.4653T>A (p.Phe1551Leu) c.4464T>A (p.Phe1488Leu) c.2868T>A (p.Phe956Leu) n.5004T>A | |
| 6 | g.52025083A>C | CA364431645 | PKHD1 | c.4727T>G (p.Phe1576Cys) c.4102-17T>G (n.4102-17T>G) c.4016T>G (p.Phe1339Cys) c.4652T>G (p.Phe1551Cys) c.4463T>G (p.Phe1488Cys) c.2867T>G (p.Phe956Cys) n.5003T>G | |
| 6 | g.52025083A>G | CA364431643 | PKHD1 | c.4727T>C (p.Phe1576Ser) c.4102-17T>C (n.4102-17T>C) c.4016T>C (p.Phe1339Ser) c.4652T>C (p.Phe1551Ser) c.4463T>C (p.Phe1488Ser) c.2867T>C (p.Phe956Ser) n.5003T>C | |
| 6 | g.52025083A>T | CA364431641 | PKHD1 | c.4727T>A (p.Phe1576Tyr) c.4102-17T>A (n.4102-17T>A) c.4016T>A (p.Phe1339Tyr) c.4652T>A (p.Phe1551Tyr) c.4463T>A (p.Phe1488Tyr) c.2867T>A (p.Phe956Tyr) n.5003T>A | |
| 6 | g.52025084A>C | CA364431647 | PKHD1 | c.4726T>G (p.Phe1576Val) c.4102-18T>G (n.4102-18T>G) c.4015T>G (p.Phe1339Val) c.4651T>G (p.Phe1551Val) c.4462T>G (p.Phe1488Val) c.2866T>G (p.Phe956Val) n.5002T>G | |
| 6 | g.52025084A>G | CA364431646 | PKHD1 | c.4726T>C (p.Phe1576Leu) c.4102-18T>C (n.4102-18T>C) c.4015T>C (p.Phe1339Leu) c.4651T>C (p.Phe1551Leu) c.4462T>C (p.Phe1488Leu) c.2866T>C (p.Phe956Leu) n.5002T>C | |
| 6 | g.52025084A>T | CA364431650 | PKHD1 | c.4726T>A (p.Phe1576Ile) c.4102-18T>A (n.4102-18T>A) c.4015T>A (p.Phe1339Ile) c.4651T>A (p.Phe1551Ile) c.4462T>A (p.Phe1488Ile) c.2866T>A (p.Phe956Ile) n.5002T>A | |
| 6 | g.52025085C>A | CA450614191 | PKHD1 | c.4725G>T (p.Val1575=) c.4102-19G>T (n.4102-19G>T) c.4014G>T (p.Val1338=) c.4650G>T (p.Val1550=) c.4461G>T (p.Val1487=) c.2865G>T (p.Val955=) n.5001G>T | |
| 6 | g.52025085C>G | CA450614194 | PKHD1 | c.4725G>C (p.Val1575=) c.4102-19G>C (n.4102-19G>C) c.4014G>C (p.Val1338=) c.4650G>C (p.Val1550=) c.4461G>C (p.Val1487=) c.2865G>C (p.Val955=) n.5001G>C | |
| 6 | g.52025085C>T | CA450614193 | PKHD1 | c.4725G>A (p.Val1575=) c.4102-19G>A (n.4102-19G>A) c.4014G>A (p.Val1338=) c.4650G>A (p.Val1550=) c.4461G>A (p.Val1487=) c.2865G>A (p.Val955=) n.5001G>A | |
| 6 | g.52025086A= | CA1628647140 | PKHD1 | c.4724T= (p.Val1575=) c.4102-20T= (n.4102-20T=) c.4013T= (p.Val1338=) c.4649T= (p.Val1550=) c.4460T= (p.Val1487=) c.2864T= (p.Val955=) n.5000T= | |
| 6 | g.52025086A>C | CA364431652 | PKHD1 | c.4724T>G (p.Val1575Gly) c.4102-20T>G (n.4102-20T>G) c.4013T>G (p.Val1338Gly) c.4649T>G (p.Val1550Gly) c.4460T>G (p.Val1487Gly) c.2864T>G (p.Val955Gly) n.5000T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025086A>G | CA364431654 | PKHD1 | c.4724T>C (p.Val1575Ala) c.4102-20T>C (n.4102-20T>C) c.4013T>C (p.Val1338Ala) c.4649T>C (p.Val1550Ala) c.4460T>C (p.Val1487Ala) c.2864T>C (p.Val955Ala) n.5000T>C | |
| 6 | g.52025086A>T | CA364431653 | PKHD1 | c.4724T>A (p.Val1575Glu) c.4102-20T>A (n.4102-20T>A) c.4013T>A (p.Val1338Glu) c.4649T>A (p.Val1550Glu) c.4460T>A (p.Val1487Glu) c.2864T>A (p.Val955Glu) n.5000T>A | |
| 6 | g.52025087C>A | CA364431656 | PKHD1 | c.4723G>T (p.Val1575Leu) c.4102-21G>T (n.4102-21G>T) c.4012G>T (p.Val1338Leu) c.4648G>T (p.Val1550Leu) c.4459G>T (p.Val1487Leu) c.2863G>T (p.Val955Leu) n.4999G>T | |
| 6 | g.52025087C>G | CA364431659 | PKHD1 | c.4723G>C (p.Val1575Leu) c.4102-21G>C (n.4102-21G>C) c.4012G>C (p.Val1338Leu) c.4648G>C (p.Val1550Leu) c.4459G>C (p.Val1487Leu) c.2863G>C (p.Val955Leu) n.4999G>C | |
| 6 | g.52025087C>T | CA364431657 | PKHD1 | c.4723G>A (p.Val1575Met) c.4102-21G>A (n.4102-21G>A) c.4012G>A (p.Val1338Met) c.4648G>A (p.Val1550Met) c.4459G>A (p.Val1487Met) c.2863G>A (p.Val955Met) n.4999G>A | gnomAD v4 |
| 6 | g.52025088T>A | CA364431661 | PKHD1 | c.4722A>T (p.Gln1574His) c.4102-22A>T (n.4102-22A>T) c.4011A>T (p.Gln1337His) c.4647A>T (p.Gln1549His) c.4458A>T (p.Gln1486His) c.2862A>T (p.Gln954His) n.4998A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52025088T>C | CA450614195 | PKHD1 | c.4722A>G (p.Gln1574=) c.4102-22A>G (n.4102-22A>G) c.4011A>G (p.Gln1337=) c.4647A>G (p.Gln1549=) c.4458A>G (p.Gln1486=) c.2862A>G (p.Gln954=) n.4998A>G | ClinVar |
| 6 | g.52025088T>G | CA364431662 | PKHD1 | c.4722A>C (p.Gln1574His) c.4102-22A>C (n.4102-22A>C) c.4011A>C (p.Gln1337His) c.4647A>C (p.Gln1549His) c.4458A>C (p.Gln1486His) c.2862A>C (p.Gln954His) n.4998A>C | |
| 6 | g.52025088T= | CA1628647144 | PKHD1 | c.4722A= (p.Gln1574=) c.4102-22A= (n.4102-22A=) c.4011A= (p.Gln1337=) c.4647A= (p.Gln1549=) c.4458A= (p.Gln1486=) c.2862A= (p.Gln954=) n.4998A= | |
| 6 | g.52025089T>A | CA364431664 | PKHD1 | c.4721A>T (p.Gln1574Leu) c.4102-23A>T (n.4102-23A>T) c.4010A>T (p.Gln1337Leu) c.4646A>T (p.Gln1549Leu) c.4457A>T (p.Gln1486Leu) c.2861A>T (p.Gln954Leu) n.4997A>T | |
| 6 | g.52025089T>C | CA364431666 | PKHD1 | c.4721A>G (p.Gln1574Arg) c.4102-23A>G (n.4102-23A>G) c.4010A>G (p.Gln1337Arg) c.4646A>G (p.Gln1549Arg) c.4457A>G (p.Gln1486Arg) c.2861A>G (p.Gln954Arg) n.4997A>G | |
| 6 | g.52025089T>G | CA364431667 | PKHD1 | c.4721A>C (p.Gln1574Pro) c.4102-23A>C (n.4102-23A>C) c.4010A>C (p.Gln1337Pro) c.4646A>C (p.Gln1549Pro) c.4457A>C (p.Gln1486Pro) c.2861A>C (p.Gln954Pro) n.4997A>C | |
| 6 | g.52025090G>A | CA364431670 | PKHD1 | c.4720C>T (p.Gln1574Ter) c.4102-24C>T (n.4102-24C>T) c.4009C>T (p.Gln1337Ter) c.4645C>T (p.Gln1549Ter) c.4456C>T (p.Gln1486Ter) c.2860C>T (p.Gln954Ter) n.4996C>T | |
| 6 | g.52025090G>C | CA364431671 | PKHD1 | c.4720C>G (p.Gln1574Glu) c.4102-24C>G (n.4102-24C>G) c.4009C>G (p.Gln1337Glu) c.4645C>G (p.Gln1549Glu) c.4456C>G (p.Gln1486Glu) c.2860C>G (p.Gln954Glu) n.4996C>G | |
| 6 | g.52025090G>T | CA364431673 | PKHD1 | c.4720C>A (p.Gln1574Lys) c.4102-24C>A (n.4102-24C>A) c.4009C>A (p.Gln1337Lys) c.4645C>A (p.Gln1549Lys) c.4456C>A (p.Gln1486Lys) c.2860C>A (p.Gln954Lys) n.4996C>A | |
| 6 | g.52025091G>A | CA3852678 | PKHD1 | c.4719C>T (p.Pro1573=) c.4102-25C>T (n.4102-25C>T) c.4008C>T (p.Pro1336=) c.4644C>T (p.Pro1548=) c.4455C>T (p.Pro1485=) c.2859C>T (p.Pro953=) n.4995C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025091G>C | CA450614199 | PKHD1 | c.4719C>G (p.Pro1573=) c.4102-25C>G (n.4102-25C>G) c.4008C>G (p.Pro1336=) c.4644C>G (p.Pro1548=) c.4455C>G (p.Pro1485=) c.2859C>G (p.Pro953=) n.4995C>G | ClinVar dbSNP |
| 6 | g.52025091G= | CA1628647146 | PKHD1 | c.4719C= (p.Pro1573=) c.4102-25C= (n.4102-25C=) c.4008C= (p.Pro1336=) c.4644C= (p.Pro1548=) c.4455C= (p.Pro1485=) c.2859C= (p.Pro953=) n.4995C= |