Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22221603C>TCA10368350PHEX,PTCHD1-ASc.1769-10C>T (p.=)
c.1013-10C>T (p.=)
c.662-10C>T (p.=)
n.1048+5867G>A
c.1478-10C>T (p.=)
n.2609-10C>T
ClinVar dbSNP ExAC gnomAD
Xg.22221607T>GCA873949373PHEX,PTCHD1-ASc.1769-6T>G (p.=)
c.1013-6T>G (p.=)
c.662-6T>G (p.=)
n.1048+5863A>C
c.1478-6T>G (p.=)
n.2609-6T>G
Xg.22221608G>TCA640415449PHEX,PTCHD1-ASc.1769-5G>T (p.=)
c.1013-5G>T (p.=)
c.662-5G>T (p.=)
n.1048+5862C>A
c.1478-5G>T (p.=)
n.2609-5G>T
gnomAD
Xg.22221611A>CCA412573405PHEX,PTCHD1-ASc.1769-2A>C (p.=)
c.1013-2A>C (p.=)
c.662-2A>C (p.=)
n.1048+5859T>G
c.1478-2A>C (p.=)
n.2609-2A>C
Xg.22221611A>GCA412573407PHEX,PTCHD1-ASc.1769-2A>G (p.=)
c.1013-2A>G (p.=)
c.662-2A>G (p.=)
n.1048+5859T>C
c.1478-2A>G (p.=)
n.2609-2A>G
Xg.22221611A>TCA412573409PHEX,PTCHD1-ASc.1769-2A>T (p.=)
c.1013-2A>T (p.=)
c.662-2A>T (p.=)
n.1048+5859T>A
c.1478-2A>T (p.=)
n.2609-2A>T
Xg.22221612G>ACA412573411PHEX,PTCHD1-ASc.1769-1G>A (p.=)
c.1013-1G>A (p.=)
c.662-1G>A (p.=)
n.1048+5858C>T
c.1478-1G>A (p.=)
n.2609-1G>A
Xg.22221612G>CCA412573413PHEX,PTCHD1-ASc.1769-1G>C (p.=)
c.1013-1G>C (p.=)
c.662-1G>C (p.=)
n.1048+5858C>G
c.1478-1G>C (p.=)
n.2609-1G>C
Xg.22221612G>TCA412573415PHEX,PTCHD1-ASc.1769-1G>T (p.=)
c.1013-1G>T (p.=)
c.662-1G>T (p.=)
n.1048+5858C>A
c.1478-1G>T (p.=)
n.2609-1G>T
ClinVar
Xg.22221613G>ACA412573418PHEX,PTCHD1-ASc.1769G>A (p.Gly590Asp)
c.1013G>A (p.Gly338Asp)
c.662G>A (p.Gly221Asp)
n.1048+5857C>T
c.1478G>A (p.Gly493Asp)
n.2609G>A
Xg.22221613G>CCA412573417PHEX,PTCHD1-ASc.1769G>C (p.Gly590Ala)
c.1013G>C (p.Gly338Ala)
c.662G>C (p.Gly221Ala)
n.1048+5857C>G
c.1478G>C (p.Gly493Ala)
n.2609G>C
Xg.22221613G>TCA412573416PHEX,PTCHD1-ASc.1769G>T (p.Gly590Val)
c.1013G>T (p.Gly338Val)
c.662G>T (p.Gly221Val)
n.1048+5857C>A
c.1478G>T (p.Gly493Val)
n.2609G>T
Xg.22221614T>ACA515425105PHEX,PTCHD1-ASc.1770T>A (p.Gly590=)
c.1014T>A (p.Gly338=)
c.663T>A (p.Gly221=)
n.1048+5856A>T
c.1479T>A (p.Gly493=)
n.2610T>A
Xg.22221614T>CCA515425106PHEX,PTCHD1-ASc.1770T>C (p.Gly590=)
c.1014T>C (p.Gly338=)
c.663T>C (p.Gly221=)
n.1048+5856A>G
c.1479T>C (p.Gly493=)
n.2610T>C
Xg.22221614T>GCA515425108PHEX,PTCHD1-ASc.1770T>G (p.Gly590=)
c.1014T>G (p.Gly338=)
c.663T>G (p.Gly221=)
n.1048+5856A>C
c.1479T>G (p.Gly493=)
n.2610T>G
Xg.22221615A>CCA515425111PHEX,PTCHD1-ASc.1771A>C (p.Arg591=)
c.1015A>C (p.Arg339=)
c.664A>C (p.Arg222=)
n.1048+5855T>G
c.1480A>C (p.Arg494=)
n.2611A>C
Xg.22221615A>GCA412573420PHEX,PTCHD1-ASc.1771A>G (p.Arg591Gly)
c.1015A>G (p.Arg339Gly)
c.664A>G (p.Arg222Gly)
n.1048+5855T>C
c.1480A>G (p.Arg494Gly)
n.2611A>G
Xg.22221615A>TCA412573422PHEX,PTCHD1-ASc.1771A>T (p.Arg591Ter)
c.1015A>T (p.Arg339Ter)
c.664A>T (p.Arg222Ter)
n.1048+5855T>A
c.1480A>T (p.Arg494Ter)
n.2611A>T
Xg.22221616G>ACA412573424PHEX,PTCHD1-ASc.1772G>A (p.Arg591Lys)
c.1016G>A (p.Arg339Lys)
c.665G>A (p.Arg222Lys)
n.1048+5854C>T
c.1481G>A (p.Arg494Lys)
n.2612G>A
Xg.22221616G>CCA412573426PHEX,PTCHD1-ASc.1772G>C (p.Arg591Thr)
c.1016G>C (p.Arg339Thr)
c.665G>C (p.Arg222Thr)
n.1048+5854C>G
c.1481G>C (p.Arg494Thr)
n.2612G>C
Xg.22221616G>TCA412573428PHEX,PTCHD1-ASc.1772G>T (p.Arg591Ile)
c.1016G>T (p.Arg339Ile)
c.665G>T (p.Arg222Ile)
n.1048+5854C>A
c.1481G>T (p.Arg494Ile)
n.2612G>T
Xg.22221617A>CCA412573430PHEX,PTCHD1-ASc.1773A>C (p.Arg591Ser)
c.1017A>C (p.Arg339Ser)
c.666A>C (p.Arg222Ser)
n.1048+5853T>G
c.1482A>C (p.Arg494Ser)
n.2613A>C
Xg.22221617A>GCA10368351PHEX,PTCHD1-ASc.1773A>G (p.Arg591=)
c.1017A>G (p.Arg339=)
c.666A>G (p.Arg222=)
n.1048+5853T>C
c.1482A>G (p.Arg494=)
n.2613A>G
dbSNP ExAC gnomAD
Xg.22221617A>TCA412573432PHEX,PTCHD1-ASc.1773A>T (p.Arg591Ser)
c.1017A>T (p.Arg339Ser)
c.666A>T (p.Arg222Ser)
n.1048+5853T>A
c.1482A>T (p.Arg494Ser)
n.2613A>T
Xg.22221618A>CCA412573434PHEX,PTCHD1-ASc.1774A>C (p.Lys592Gln)
c.1018A>C (p.Lys340Gln)
c.667A>C (p.Lys223Gln)
n.1048+5852T>G
c.1483A>C (p.Lys495Gln)
n.2614A>C
Xg.22221618A>GCA412573436PHEX,PTCHD1-ASc.1774A>G (p.Lys592Glu)
c.1018A>G (p.Lys340Glu)
c.667A>G (p.Lys223Glu)
n.1048+5852T>C
c.1483A>G (p.Lys495Glu)
n.2614A>G
Xg.22221618A>TCA412573438PHEX,PTCHD1-ASc.1774A>T (p.Lys592Ter)
c.1018A>T (p.Lys340Ter)
c.667A>T (p.Lys223Ter)
n.1048+5852T>A
c.1483A>T (p.Lys495Ter)
n.2614A>T
Xg.22221619_22221622dupCA645509391PHEX,PTCHD1-ASc.1775_1778dup (p.Tyr593Ter)
c.1019_1022dup (p.Tyr341Ter)
c.668_671dup (p.Tyr224Ter)
n.1048+5849_1048+5852dup
c.1484_1487dup (p.Tyr496Ter)
n.2615_2618dup
ClinVar dbSNP
Xg.22221619A>CCA412573444PHEX,PTCHD1-ASc.1775A>C (p.Lys592Thr)
c.1019A>C (p.Lys340Thr)
c.668A>C (p.Lys223Thr)
n.1048+5851T>G
c.1484A>C (p.Lys495Thr)
n.2615A>C
Xg.22221619A>GCA412573442PHEX,PTCHD1-ASc.1775A>G (p.Lys592Arg)
c.1019A>G (p.Lys340Arg)
c.668A>G (p.Lys223Arg)
n.1048+5851T>C
c.1484A>G (p.Lys495Arg)
n.2615A>G
Xg.22221619A>TCA412573440PHEX,PTCHD1-ASc.1775A>T (p.Lys592Ile)
c.1019A>T (p.Lys340Ile)
c.668A>T (p.Lys223Ile)
n.1048+5851T>A
c.1484A>T (p.Lys495Ile)
n.2615A>T
Xg.22221620A>CCA412573446PHEX,PTCHD1-ASc.1776A>C (p.Lys592Asn)
c.1020A>C (p.Lys340Asn)
c.669A>C (p.Lys223Asn)
n.1048+5850T>G
c.1485A>C (p.Lys495Asn)
n.2616A>C
Xg.22221620A>GCA515425137PHEX,PTCHD1-ASc.1776A>G (p.Lys592=)
c.1020A>G (p.Lys340=)
c.669A>G (p.Lys223=)
n.1048+5850T>C
c.1485A>G (p.Lys495=)
n.2616A>G
Xg.22221620A>TCA412573447PHEX,PTCHD1-ASc.1776A>T (p.Lys592Asn)
c.1020A>T (p.Lys340Asn)
c.669A>T (p.Lys223Asn)
n.1048+5850T>A
c.1485A>T (p.Lys495Asn)
n.2616A>T
Xg.22221621T>ACA412573450PHEX,PTCHD1-ASc.1777T>A (p.Tyr593Asn)
c.1021T>A (p.Tyr341Asn)
c.670T>A (p.Tyr224Asn)
n.1048+5849A>T
c.1486T>A (p.Tyr496Asn)
n.2617T>A
Xg.22221621T>CCA412573451PHEX,PTCHD1-ASc.1777T>C (p.Tyr593His)
c.1021T>C (p.Tyr341His)
c.670T>C (p.Tyr224His)
n.1048+5849A>G
c.1486T>C (p.Tyr496His)
n.2617T>C
COSMIC COSMIC
Xg.22221621T>GCA412573453PHEX,PTCHD1-ASc.1777T>G (p.Tyr593Asp)
c.1021T>G (p.Tyr341Asp)
c.670T>G (p.Tyr224Asp)
n.1048+5849A>C
c.1486T>G (p.Tyr496Asp)
n.2617T>G
Xg.22221622A>CCA412573455PHEX,PTCHD1-ASc.1778A>C (p.Tyr593Ser)
c.1022A>C (p.Tyr341Ser)
c.671A>C (p.Tyr224Ser)
n.1048+5848T>G
c.1487A>C (p.Tyr496Ser)
n.2618A>C
Xg.22221622A>GCA412573457PHEX,PTCHD1-ASc.1778A>G (p.Tyr593Cys)
c.1022A>G (p.Tyr341Cys)
c.671A>G (p.Tyr224Cys)
n.1048+5848T>C
c.1487A>G (p.Tyr496Cys)
n.2618A>G
Xg.22221622A>TCA412573459PHEX,PTCHD1-ASc.1778A>T (p.Tyr593Phe)
c.1022A>T (p.Tyr341Phe)
c.671A>T (p.Tyr224Phe)
n.1048+5848T>A
c.1487A>T (p.Tyr496Phe)
n.2618A>T
Xg.22221623T>ACA412573461PHEX,PTCHD1-ASc.1779T>A (p.Tyr593Ter)
c.1023T>A (p.Tyr341Ter)
c.672T>A (p.Tyr224Ter)
n.1048+5847A>T
c.1488T>A (p.Tyr496Ter)
n.2619T>A
Xg.22221623T>CCA515425151PHEX,PTCHD1-ASc.1779T>C (p.Tyr593=)
c.1023T>C (p.Tyr341=)
c.672T>C (p.Tyr224=)
n.1048+5847A>G
c.1488T>C (p.Tyr496=)
n.2619T>C
Xg.22221623T>GCA412573463PHEX,PTCHD1-ASc.1779T>G (p.Tyr593Ter)
c.1023T>G (p.Tyr341Ter)
c.672T>G (p.Tyr224Ter)
n.1048+5847A>C
c.1488T>G (p.Tyr496Ter)
n.2619T>G
ClinVar
Xg.22221623_22221626dupCA10603458PHEX,PTCHD1-ASc.1779_1782dup (p.Lys595Ter)
c.1023_1026dup (p.Lys343Ter)
c.672_675dup (p.Lys226Ter)
n.1048+5844_1048+5847dup
c.1488_1491dup (p.Lys498Ter)
n.2619_2622dup
ClinVar dbSNP
Xg.22221624G>ACA412573470PHEX,PTCHD1-ASc.1780G>A (p.Asp594Asn)
c.1024G>A (p.Asp342Asn)
c.673G>A (p.Asp225Asn)
n.1048+5846C>T
c.1489G>A (p.Asp497Asn)
n.2620G>A
Xg.22221624G>CCA412573468PHEX,PTCHD1-ASc.1780G>C (p.Asp594His)
c.1024G>C (p.Asp342His)
c.673G>C (p.Asp225His)
n.1048+5846C>G
c.1489G>C (p.Asp497His)
n.2620G>C
Xg.22221624G>TCA412573466PHEX,PTCHD1-ASc.1780G>T (p.Asp594Tyr)
c.1024G>T (p.Asp342Tyr)
c.673G>T (p.Asp225Tyr)
n.1048+5846C>A
c.1489G>T (p.Asp497Tyr)
n.2620G>T
Xg.22221625A>CCA412573472PHEX,PTCHD1-ASc.1781A>C (p.Asp594Ala)
c.1025A>C (p.Asp342Ala)
c.674A>C (p.Asp225Ala)
n.1048+5845T>G
c.1490A>C (p.Asp497Ala)
n.2621A>C
Xg.22221625A>GCA412573473PHEX,PTCHD1-ASc.1781A>G (p.Asp594Gly)
c.1025A>G (p.Asp342Gly)
c.674A>G (p.Asp225Gly)
n.1048+5845T>C
c.1490A>G (p.Asp497Gly)
n.2621A>G
Xg.22221625A>TCA412573475PHEX,PTCHD1-ASc.1781A>T (p.Asp594Val)
c.1025A>T (p.Asp342Val)
c.674A>T (p.Asp225Val)
n.1048+5845T>A
c.1490A>T (p.Asp497Val)
n.2621A>T

Number of alleles fetched