Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025064A=CA1628647112PKHD1c.4746T= (p.Asn1582=)
c.4104T= (p.Asn1368=)
c.4035T= (p.Asn1345=)
c.4671T= (p.Asn1557=)
c.4482T= (p.Asn1494=)
c.2886T= (p.Asn962=)
n.5022T=
6g.52025064A>CCA364431565PKHD1c.4746T>G (p.Asn1582Lys)
c.4104T>G (p.Asn1368Lys)
c.4035T>G (p.Asn1345Lys)
c.4671T>G (p.Asn1557Lys)
c.4482T>G (p.Asn1494Lys)
c.2886T>G (p.Asn962Lys)
n.5022T>G
6g.52025064A>GCA3852675PKHD1c.4746T>C (p.Asn1582=)
c.4104T>C (p.Asn1368=)
c.4035T>C (p.Asn1345=)
c.4671T>C (p.Asn1557=)
c.4482T>C (p.Asn1494=)
c.2886T>C (p.Asn962=)
n.5022T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025064A>TCA364431567PKHD1c.4746T>A (p.Asn1582Lys)
c.4104T>A (p.Asn1368Lys)
c.4035T>A (p.Asn1345Lys)
c.4671T>A (p.Asn1557Lys)
c.4482T>A (p.Asn1494Lys)
c.2886T>A (p.Asn962Lys)
n.5022T>A
6g.52025065T>ACA364431569PKHD1c.4745A>T (p.Asn1582Ile)
c.4103A>T (p.Asn1368Ile)
c.4034A>T (p.Asn1345Ile)
c.4670A>T (p.Asn1557Ile)
c.4481A>T (p.Asn1494Ile)
c.2885A>T (p.Asn962Ile)
n.5021A>T
6g.52025065T>CCA364431571PKHD1c.4745A>G (p.Asn1582Ser)
c.4103A>G (p.Asn1368Ser)
c.4034A>G (p.Asn1345Ser)
c.4670A>G (p.Asn1557Ser)
c.4481A>G (p.Asn1494Ser)
c.2885A>G (p.Asn962Ser)
n.5021A>G
 dbSNP
6g.52025065T>GCA364431573PKHD1c.4745A>C (p.Asn1582Thr)
c.4103A>C (p.Asn1368Thr)
c.4034A>C (p.Asn1345Thr)
c.4670A>C (p.Asn1557Thr)
c.4481A>C (p.Asn1494Thr)
c.2885A>C (p.Asn962Thr)
n.5021A>C
6g.52025065T=CA1628647117PKHD1c.4745A= (p.Asn1582=)
c.4103A= (p.Asn1368=)
c.4034A= (p.Asn1345=)
c.4670A= (p.Asn1557=)
c.4481A= (p.Asn1494=)
c.2885A= (p.Asn962=)
n.5021A=
6g.52025066T>ACA364431577PKHD1c.4744A>T (p.Asn1582Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4033A>T (p.Asn1345Tyr)
c.4669A>T (p.Asn1557Tyr)
c.4480A>T (p.Asn1494Tyr)
c.2884A>T (p.Asn962Tyr)
n.5020A>T
 COSMIC COSMIC
6g.52025066T>CCA364431574PKHD1c.4744A>G (p.Asn1582Asp)
c.4102A>G (p.Asn1368Asp)
c.4033A>G (p.Asn1345Asp)
c.4669A>G (p.Asn1557Asp)
c.4480A>G (p.Asn1494Asp)
c.2884A>G (p.Asn962Asp)
n.5020A>G
 gnomAD v4
6g.52025066T>GCA364431575PKHD1c.4744A>C (p.Asn1582His)
c.4102A>C (p.Asn1368His)
c.4033A>C (p.Asn1345His)
c.4669A>C (p.Asn1557His)
c.4480A>C (p.Asn1494His)
c.2884A>C (p.Asn962His)
n.5020A>C
6g.52025067C>ACA364431579PKHD1c.4743G>T (p.Lys1581Asn)
c.4102-1G>T (n.4102-1G>T)
c.4032G>T (p.Lys1344Asn)
c.4668G>T (p.Lys1556Asn)
c.4479G>T (p.Lys1493Asn)
c.2883G>T (p.Lys961Asn)
n.5019G>T
6g.52025067C>GCA364431581PKHD1c.4743G>C (p.Lys1581Asn)
c.4102-1G>C (n.4102-1G>C)
c.4032G>C (p.Lys1344Asn)
c.4668G>C (p.Lys1556Asn)
c.4479G>C (p.Lys1493Asn)
c.2883G>C (p.Lys961Asn)
n.5019G>C
6g.52025067C>TCA450614166PKHD1c.4743G>A (p.Lys1581=)
c.4102-1G>A (n.4102-1G>A)
c.4032G>A (p.Lys1344=)
c.4668G>A (p.Lys1556=)
c.4479G>A (p.Lys1493=)
c.2883G>A (p.Lys961=)
n.5019G>A
6g.52025068T>ACA364431582PKHD1c.4742A>T (p.Lys1581Met)
c.4102-2A>T (n.4102-2A>T)
c.4031A>T (p.Lys1344Met)
c.4667A>T (p.Lys1556Met)
c.4478A>T (p.Lys1493Met)
c.2882A>T (p.Lys961Met)
n.5018A>T
6g.52025068T>CCA3852676PKHD1c.4742A>G (p.Lys1581Arg)
c.4102-2A>G (n.4102-2A>G)
c.4031A>G (p.Lys1344Arg)
c.4667A>G (p.Lys1556Arg)
c.4478A>G (p.Lys1493Arg)
c.2882A>G (p.Lys961Arg)
n.5018A>G
 dbSNP ExAC gnomAD v2
6g.52025068T>GCA364431584PKHD1c.4742A>C (p.Lys1581Thr)
c.4102-2A>C (n.4102-2A>C)
c.4031A>C (p.Lys1344Thr)
c.4667A>C (p.Lys1556Thr)
c.4478A>C (p.Lys1493Thr)
c.2882A>C (p.Lys961Thr)
n.5018A>C
6g.52025068T=CA1628647121PKHD1c.4742A= (p.Lys1581=)
c.4102-2A= (n.4102-2A=)
c.4031A= (p.Lys1344=)
c.4667A= (p.Lys1556=)
c.4478A= (p.Lys1493=)
c.2882A= (p.Lys961=)
n.5018A=
6g.52025069T>ACA364431587PKHD1c.4741A>T (p.Lys1581Ter)
c.4102-3A>T (n.4102-3A>T)
c.4030A>T (p.Lys1344Ter)
c.4666A>T (p.Lys1556Ter)
c.4477A>T (p.Lys1493Ter)
c.2881A>T (p.Lys961Ter)
n.5017A>T
6g.52025069T>CCA364431588PKHD1c.4741A>G (p.Lys1581Glu)
c.4102-3A>G (n.4102-3A>G)
c.4030A>G (p.Lys1344Glu)
c.4666A>G (p.Lys1556Glu)
c.4477A>G (p.Lys1493Glu)
c.2881A>G (p.Lys961Glu)
n.5017A>G
 dbSNP
6g.52025069T>GCA364431590PKHD1c.4741A>C (p.Lys1581Gln)
c.4102-3A>C (n.4102-3A>C)
c.4030A>C (p.Lys1344Gln)
c.4666A>C (p.Lys1556Gln)
c.4477A>C (p.Lys1493Gln)
c.2881A>C (p.Lys961Gln)
n.5017A>C
6g.52025069T=CA1628647126PKHD1c.4741A= (p.Lys1581=)
c.4102-3A= (n.4102-3A=)
c.4030A= (p.Lys1344=)
c.4666A= (p.Lys1556=)
c.4477A= (p.Lys1493=)
c.2881A= (p.Lys961=)
n.5017A=
6g.52025070A>CCA450614170PKHD1c.4740T>G (p.Pro1580=)
c.4102-4T>G (n.4102-4T>G)
c.4029T>G (p.Pro1343=)
c.4665T>G (p.Pro1555=)
c.4476T>G (p.Pro1492=)
c.2880T>G (p.Pro960=)
n.5016T>G
6g.52025070A>GCA450614171PKHD1c.4740T>C (p.Pro1580=)
c.4102-4T>C (n.4102-4T>C)
c.4029T>C (p.Pro1343=)
c.4665T>C (p.Pro1555=)
c.4476T>C (p.Pro1492=)
c.2880T>C (p.Pro960=)
n.5016T>C
6g.52025070A>TCA450614172PKHD1c.4740T>A (p.Pro1580=)
c.4102-4T>A (n.4102-4T>A)
c.4029T>A (p.Pro1343=)
c.4665T>A (p.Pro1555=)
c.4476T>A (p.Pro1492=)
c.2880T>A (p.Pro960=)
n.5016T>A
6g.52025071G>ACA364431592PKHD1c.4739C>T (p.Pro1580Leu)
c.4102-5C>T (n.4102-5C>T)
c.4028C>T (p.Pro1343Leu)
c.4664C>T (p.Pro1555Leu)
c.4475C>T (p.Pro1492Leu)
c.2879C>T (p.Pro960Leu)
n.5015C>T
6g.52025071G>CCA364431593PKHD1c.4739C>G (p.Pro1580Arg)
c.4102-5C>G (n.4102-5C>G)
c.4028C>G (p.Pro1343Arg)
c.4664C>G (p.Pro1555Arg)
c.4475C>G (p.Pro1492Arg)
c.2879C>G (p.Pro960Arg)
n.5015C>G
6g.52025071G=CA1628647130PKHD1c.4739C= (p.Pro1580=)
c.4102-5C= (n.4102-5C=)
c.4028C= (p.Pro1343=)
c.4664C= (p.Pro1555=)
c.4475C= (p.Pro1492=)
c.2879C= (p.Pro960=)
n.5015C=
6g.52025071G>TCA364431594PKHD1c.4739C>A (p.Pro1580His)
c.4102-5C>A (n.4102-5C>A)
c.4028C>A (p.Pro1343His)
c.4664C>A (p.Pro1555His)
c.4475C>A (p.Pro1492His)
c.2879C>A (p.Pro960His)
n.5015C>A
 dbSNP gnomAD v2 gnomAD v4
6g.52025072G>ACA364431600PKHD1c.4738C>T (p.Pro1580Ser)
c.4102-6C>T (n.4102-6C>T)
c.4027C>T (p.Pro1343Ser)
c.4663C>T (p.Pro1555Ser)
c.4474C>T (p.Pro1492Ser)
c.2878C>T (p.Pro960Ser)
n.5014C>T
6g.52025072G>CCA364431598PKHD1c.4738C>G (p.Pro1580Ala)
c.4102-6C>G (n.4102-6C>G)
c.4027C>G (p.Pro1343Ala)
c.4663C>G (p.Pro1555Ala)
c.4474C>G (p.Pro1492Ala)
c.2878C>G (p.Pro960Ala)
n.5014C>G
6g.52025072G>TCA364431596PKHD1c.4738C>A (p.Pro1580Thr)
c.4102-6C>A (n.4102-6C>A)
c.4027C>A (p.Pro1343Thr)
c.4663C>A (p.Pro1555Thr)
c.4474C>A (p.Pro1492Thr)
c.2878C>A (p.Pro960Thr)
n.5014C>A
6g.52025073A>CCA364431602PKHD1c.4737T>G (p.Phe1579Leu)
c.4102-7T>G (n.4102-7T>G)
c.4026T>G (p.Phe1342Leu)
c.4662T>G (p.Phe1554Leu)
c.4473T>G (p.Phe1491Leu)
c.2877T>G (p.Phe959Leu)
n.5013T>G
6g.52025073A>GCA450614175PKHD1c.4737T>C (p.Phe1579=)
c.4102-7T>C (n.4102-7T>C)
c.4026T>C (p.Phe1342=)
c.4662T>C (p.Phe1554=)
c.4473T>C (p.Phe1491=)
c.2877T>C (p.Phe959=)
n.5013T>C
6g.52025073A>TCA364431603PKHD1c.4737T>A (p.Phe1579Leu)
c.4102-7T>A (n.4102-7T>A)
c.4026T>A (p.Phe1342Leu)
c.4662T>A (p.Phe1554Leu)
c.4473T>A (p.Phe1491Leu)
c.2877T>A (p.Phe959Leu)
n.5013T>A
6g.52025076delCA2578645391PKHD1c.4737del (p.Pro1580LeufsTer12)
c.4102-7del (n.4102-7del)
c.4026del (p.Pro1343LeufsTer12)
c.4662del (p.Pro1555LeufsTer12)
c.4473del (p.Pro1492LeufsTer12)
c.2877del (p.Pro960LeufsTer12)
n.5013del
6g.52025074A>CCA364431604PKHD1c.4736T>G (p.Phe1579Cys)
c.4102-8T>G (n.4102-8T>G)
c.4025T>G (p.Phe1342Cys)
c.4661T>G (p.Phe1554Cys)
c.4472T>G (p.Phe1491Cys)
c.2876T>G (p.Phe959Cys)
n.5012T>G
6g.52025074A>GCA364431605PKHD1c.4736T>C (p.Phe1579Ser)
c.4102-8T>C (n.4102-8T>C)
c.4025T>C (p.Phe1342Ser)
c.4661T>C (p.Phe1554Ser)
c.4472T>C (p.Phe1491Ser)
c.2876T>C (p.Phe959Ser)
n.5012T>C
6g.52025074A>TCA364431606PKHD1c.4736T>A (p.Phe1579Tyr)
c.4102-8T>A (n.4102-8T>A)
c.4025T>A (p.Phe1342Tyr)
c.4661T>A (p.Phe1554Tyr)
c.4472T>A (p.Phe1491Tyr)
c.2876T>A (p.Phe959Tyr)
n.5012T>A
6g.52025075A>CCA364431612PKHD1c.4735T>G (p.Phe1579Val)
c.4102-9T>G (n.4102-9T>G)
c.4024T>G (p.Phe1342Val)
c.4660T>G (p.Phe1554Val)
c.4471T>G (p.Phe1491Val)
c.2875T>G (p.Phe959Val)
n.5011T>G
6g.52025075A>GCA364431609PKHD1c.4735T>C (p.Phe1579Leu)
c.4102-9T>C (n.4102-9T>C)
c.4024T>C (p.Phe1342Leu)
c.4660T>C (p.Phe1554Leu)
c.4471T>C (p.Phe1491Leu)
c.2875T>C (p.Phe959Leu)
n.5011T>C
6g.52025075A>TCA364431608PKHD1c.4735T>A (p.Phe1579Ile)
c.4102-9T>A (n.4102-9T>A)
c.4024T>A (p.Phe1342Ile)
c.4660T>A (p.Phe1554Ile)
c.4471T>A (p.Phe1491Ile)
c.2875T>A (p.Phe959Ile)
n.5011T>A
6g.52025076A>CCA364431613PKHD1c.4734T>G (p.Tyr1578Ter)
c.4102-10T>G (n.4102-10T>G)
c.4023T>G (p.Tyr1341Ter)
c.4659T>G (p.Tyr1553Ter)
c.4470T>G (p.Tyr1490Ter)
c.2874T>G (p.Tyr958Ter)
n.5010T>G
6g.52025076A>GCA450614178PKHD1c.4734T>C (p.Tyr1578=)
c.4102-10T>C (n.4102-10T>C)
c.4023T>C (p.Tyr1341=)
c.4659T>C (p.Tyr1553=)
c.4470T>C (p.Tyr1490=)
c.2874T>C (p.Tyr958=)
n.5010T>C
6g.52025076A>TCA364431614PKHD1c.4734T>A (p.Tyr1578Ter)
c.4102-10T>A (n.4102-10T>A)
c.4023T>A (p.Tyr1341Ter)
c.4659T>A (p.Tyr1553Ter)
c.4470T>A (p.Tyr1490Ter)
c.2874T>A (p.Tyr958Ter)
n.5010T>A
6g.52025076_52025077delinsATCA1628647133PKHD1c.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
6g.52025077delCA234573PKHD1c.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
6g.52025077T>ACA364431615PKHD1c.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
6g.52025077T>CCA364431616PKHD1c.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
6g.52025077T>GCA364431617PKHD1c.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

Number of alleles fetched