Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52025063A>C | CA364431562 | PKHD1 | c.4747T>G (p.Phe1583Val) c.4105T>G (p.Phe1369Val) c.4036T>G (p.Phe1346Val) c.4672T>G (p.Phe1558Val) c.4483T>G (p.Phe1495Val) c.2887T>G (p.Phe963Val) n.5023T>G | |
6 | g.52025063A>G | CA364431563 | PKHD1 | c.4747T>C (p.Phe1583Leu) c.4105T>C (p.Phe1369Leu) c.4036T>C (p.Phe1346Leu) c.4672T>C (p.Phe1558Leu) c.4483T>C (p.Phe1495Leu) c.2887T>C (p.Phe963Leu) n.5023T>C | gnomAD v4 |
6 | g.52025063A>T | CA364431564 | PKHD1 | c.4747T>A (p.Phe1583Ile) c.4105T>A (p.Phe1369Ile) c.4036T>A (p.Phe1346Ile) c.4672T>A (p.Phe1558Ile) c.4483T>A (p.Phe1495Ile) c.2887T>A (p.Phe963Ile) n.5023T>A | |
6 | g.52025064A= | CA1628647112 | PKHD1 | c.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= | |
6 | g.52025064A>C | CA364431565 | PKHD1 | c.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 | |
6 | g.52025064A>G | CA3852675 | PKHD1 | c.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 |
6 | g.52025064A>T | CA364431567 | PKHD1 | c.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 | |
6 | g.52025065T>A | CA364431569 | PKHD1 | c.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 | |
6 | g.52025065T>C | CA364431571 | PKHD1 | c.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 |
6 | g.52025065T>G | CA364431573 | PKHD1 | c.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 | |
6 | g.52025065T= | CA1628647117 | PKHD1 | c.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= | |
6 | g.52025066T>A | CA364431577 | PKHD1 | c.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 |
6 | g.52025066T>C | CA364431574 | PKHD1 | c.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 |
6 | g.52025066T>G | CA364431575 | PKHD1 | c.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 | |
6 | g.52025067C>A | CA364431579 | PKHD1 | c.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 | |
6 | g.52025067C>G | CA364431581 | PKHD1 | c.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 | |
6 | g.52025067C>T | CA450614166 | PKHD1 | c.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 | |
6 | g.52025068T>A | CA364431582 | PKHD1 | c.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 | |
6 | g.52025068T>C | CA3852676 | PKHD1 | c.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 |
6 | g.52025068T>G | CA364431584 | PKHD1 | c.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 | |
6 | g.52025068T= | CA1628647121 | PKHD1 | c.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= | |
6 | g.52025069T>A | CA364431587 | PKHD1 | c.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 | |
6 | g.52025069T>C | CA364431588 | PKHD1 | c.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 |
6 | g.52025069T>G | CA364431590 | PKHD1 | c.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 | |
6 | g.52025069T= | CA1628647126 | PKHD1 | c.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= | |
6 | g.52025070A>C | CA450614170 | PKHD1 | c.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 | |
6 | g.52025070A>G | CA450614171 | PKHD1 | c.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 | |
6 | g.52025070A>T | CA450614172 | PKHD1 | c.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 | |
6 | g.52025071G>A | CA364431592 | PKHD1 | c.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 | |
6 | g.52025071G>C | CA364431593 | PKHD1 | c.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 | |
6 | g.52025071G= | CA1628647130 | PKHD1 | c.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= | |
6 | g.52025071G>T | CA364431594 | PKHD1 | c.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 |
6 | g.52025072G>A | CA364431600 | PKHD1 | c.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 | |
6 | g.52025072G>C | CA364431598 | PKHD1 | c.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 | |
6 | g.52025072G>T | CA364431596 | PKHD1 | c.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 | |
6 | g.52025073A>C | CA364431602 | PKHD1 | c.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 | |
6 | g.52025073A>G | CA450614175 | PKHD1 | c.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 | |
6 | g.52025073A>T | CA364431603 | PKHD1 | c.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 | |
6 | g.52025076del | CA2578645391 | PKHD1 | c.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 | |
6 | g.52025074A>C | CA364431604 | PKHD1 | c.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 | |
6 | g.52025074A>G | CA364431605 | PKHD1 | c.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 | |
6 | g.52025074A>T | CA364431606 | PKHD1 | c.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 | |
6 | g.52025075A>C | CA364431612 | PKHD1 | c.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 | |
6 | g.52025075A>G | CA364431609 | PKHD1 | c.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 | |
6 | g.52025075A>T | CA364431608 | PKHD1 | c.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 | |
6 | g.52025076A>C | CA364431613 | PKHD1 | c.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 | |
6 | g.52025076A>G | CA450614178 | PKHD1 | c.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 | |
6 | g.52025076A>T | CA364431614 | PKHD1 | c.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 | |
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 |