Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.122506874G>ACA346794HTRA1c.961G>A (p.Ala321Thr)
c.643G>A (p.Ala215Thr)
c.184G>A (p.Ala62Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506874G>CCA378585857HTRA1c.961G>C (p.Ala321Pro)
c.643G>C (p.Ala215Pro)
c.184G>C (p.Ala62Pro)
10g.122506874G=CA1941477261HTRA1c.961G= (p.Ala321=)
c.643G= (p.Ala215=)
c.184G= (p.Ala62=)
10g.122506874G>TCA378585858HTRA1c.961G>T (p.Ala321Ser)
c.643G>T (p.Ala215Ser)
c.184G>T (p.Ala62Ser)
10g.122506875C>ACA378585859HTRA1c.962C>A (p.Ala321Asp)
c.644C>A (p.Ala215Asp)
c.185C>A (p.Ala62Asp)
10g.122506875C>GCA378585860HTRA1c.962C>G (p.Ala321Gly)
c.644C>G (p.Ala215Gly)
c.185C>G (p.Ala62Gly)
 gnomAD v4
10g.122506875C>TCA378585861HTRA1c.962C>T (p.Ala321Val)
c.644C>T (p.Ala215Val)
c.185C>T (p.Ala62Val)
10g.122506876C>ACA471666983HTRA1c.963C>A (p.Ala321=)
c.645C>A (p.Ala215=)
c.186C>A (p.Ala62=)
10g.122506876C=CA1941477262HTRA1c.963C= (p.Ala321=)
c.645C= (p.Ala215=)
c.186C= (p.Ala62=)
10g.122506876C>GCA471666981HTRA1c.963C>G (p.Ala321=)
c.645C>G (p.Ala215=)
c.186C>G (p.Ala62=)
10g.122506876C>TCA471666982HTRA1c.963C>T (p.Ala321=)
c.645C>T (p.Ala215=)
c.186C>T (p.Ala62=)
 dbSNP
10g.122506877A>CCA378585862HTRA1c.964A>C (p.Ile322Leu)
c.646A>C (p.Ile216Leu)
c.187A>C (p.Ile63Leu)
10g.122506877A>GCA378585864HTRA1c.964A>G (p.Ile322Val)
c.646A>G (p.Ile216Val)
c.187A>G (p.Ile63Val)
10g.122506877A>TCA378585863HTRA1c.964A>T (p.Ile322Phe)
c.646A>T (p.Ile216Phe)
c.187A>T (p.Ile63Phe)
10g.122506878T>ACA378585865HTRA1c.965T>A (p.Ile322Asn)
c.647T>A (p.Ile216Asn)
c.188T>A (p.Ile63Asn)
 gnomAD v4
10g.122506878T>CCA378585866HTRA1c.965T>C (p.Ile322Thr)
c.647T>C (p.Ile216Thr)
c.188T>C (p.Ile63Thr)
10g.122506878T>GCA378585867HTRA1c.965T>G (p.Ile322Ser)
c.647T>G (p.Ile216Ser)
c.188T>G (p.Ile63Ser)
10g.122506879C>ACA471666984HTRA1c.966C>A (p.Ile322=)
c.648C>A (p.Ile216=)
c.189C>A (p.Ile63=)
10g.122506879C>GCA378585868HTRA1c.966C>G (p.Ile322Met)
c.648C>G (p.Ile216Met)
c.189C>G (p.Ile63Met)
10g.122506879C>TCA471666985HTRA1c.966C>T (p.Ile322=)
c.648C>T (p.Ile216=)
c.189C>T (p.Ile63=)
10g.122506880A>CCA378585869HTRA1c.967A>C (p.Ile323Leu)
c.649A>C (p.Ile217Leu)
c.190A>C (p.Ile64Leu)
10g.122506880A>GCA378585870HTRA1c.967A>G (p.Ile323Val)
c.649A>G (p.Ile217Val)
c.190A>G (p.Ile64Val)
10g.122506880A>TCA378585871HTRA1c.967A>T (p.Ile323Phe)
c.649A>T (p.Ile217Phe)
c.190A>T (p.Ile64Phe)
10g.122506881T>ACA378585872HTRA1c.968T>A (p.Ile323Asn)
c.650T>A (p.Ile217Asn)
c.191T>A (p.Ile64Asn)
10g.122506881T>CCA378585873HTRA1c.968T>C (p.Ile323Thr)
c.650T>C (p.Ile217Thr)
c.191T>C (p.Ile64Thr)
10g.122506881T>GCA378585874HTRA1c.968T>G (p.Ile323Ser)
c.650T>G (p.Ile217Ser)
c.191T>G (p.Ile64Ser)
10g.122506882C>ACA471666986HTRA1c.969C>A (p.Ile323=)
c.651C>A (p.Ile217=)
c.192C>A (p.Ile64=)
 gnomAD v4
10g.122506882C>GCA378585875HTRA1c.969C>G (p.Ile323Met)
c.651C>G (p.Ile217Met)
c.192C>G (p.Ile64Met)
10g.122506882C>TCA471666987HTRA1c.969C>T (p.Ile323=)
c.651C>T (p.Ile217=)
c.192C>T (p.Ile64=)
10g.122506883A=CA1941477263HTRA1c.970A= (p.Asn324=)
c.652A= (p.Asn218=)
c.193A= (p.Asn65=)
10g.122506883A>CCA378585876HTRA1c.970A>C (p.Asn324His)
c.652A>C (p.Asn218His)
c.193A>C (p.Asn65His)
10g.122506883A>GCA5725978HTRA1c.970A>G (p.Asn324Asp)
c.652A>G (p.Asn218Asp)
c.193A>G (p.Asn65Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506883A>TCA378585877HTRA1c.970A>T (p.Asn324Tyr)
c.652A>T (p.Asn218Tyr)
c.193A>T (p.Asn65Tyr)
10g.122506884A=CA1941477264HTRA1c.971A= (p.Asn324=)
c.653A= (p.Asn218=)
c.194A= (p.Asn65=)
10g.122506884A>CCA378585878HTRA1c.971A>C (p.Asn324Thr)
c.653A>C (p.Asn218Thr)
c.194A>C (p.Asn65Thr)
 ClinVar dbSNP
10g.122506884A>GCA378585879HTRA1c.971A>G (p.Asn324Ser)
c.653A>G (p.Asn218Ser)
c.194A>G (p.Asn65Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506884A>TCA378585880HTRA1c.971A>T (p.Asn324Ile)
c.653A>T (p.Asn218Ile)
c.194A>T (p.Asn65Ile)
 gnomAD v4
10g.122506885C>ACA378585881HTRA1c.972C>A (p.Asn324Lys)
c.654C>A (p.Asn218Lys)
c.195C>A (p.Asn65Lys)
10g.122506885C=CA1941477265HTRA1c.972C= (p.Asn324=)
c.654C= (p.Asn218=)
c.195C= (p.Asn65=)
10g.122506885C>GCA378585882HTRA1c.972C>G (p.Asn324Lys)
c.654C>G (p.Asn218Lys)
c.195C>G (p.Asn65Lys)
10g.122506885C>TCA5725979HTRA1c.972C>T (p.Asn324=)
c.654C>T (p.Asn218=)
c.195C>T (p.Asn65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506885_122506886insTATGGAAACTCCA2722881991HTRA1c.972_972+1insTATGGAAACTC (p.Gly329MetfsTer8)
c.654_654+1insTATGGAAACTC (p.Gly223MetfsTer8)
c.195_195+1insTATGGAAACTC (p.Gly70MetfsTer8)
 dbSNP
10g.122506886G>ACA378585883HTRA1c.972+1G>A (n.972+1G>A)
c.654+1G>A (n.654+1G>A)
c.195+1G>A (n.195+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506886G>CCA378585884HTRA1c.972+1G>C (n.972+1G>C)
c.654+1G>C (n.654+1G>C)
c.195+1G>C (n.195+1G>C)
 ClinVar dbSNP gnomAD v4
10g.122506886G=CA1941477266HTRA1c.972+1G= (n.972+1G=)
c.654+1G= (n.654+1G=)
c.195+1G= (n.195+1G=)
10g.122506886G>TCA378585885HTRA1c.972+1G>T (n.972+1G>T)
c.654+1G>T (n.654+1G>T)
c.195+1G>T (n.195+1G>T)
10g.122506887T>ACA378585886HTRA1c.972+2T>A (n.972+2T>A)
c.654+2T>A (n.654+2T>A)
c.195+2T>A (n.195+2T>A)
10g.122506887T>CCA378585887HTRA1c.972+2T>C (n.972+2T>C)
c.654+2T>C (n.654+2T>C)
c.195+2T>C (n.195+2T>C)
10g.122506887T>GCA378585888HTRA1c.972+2T>G (n.972+2T>G)
c.654+2T>G (n.654+2T>G)
c.195+2T>G (n.195+2T>G)
10g.122506888G>ACA1941477268HTRA1c.972+3G>A (n.972+3G>A)
c.654+3G>A (n.654+3G>A)
c.195+3G>A (n.195+3G>A)
 dbSNP

Number of alleles fetched