Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.122508640_122508643delinsCCTTCA1941478095HTRA1c.1006-16_1006-13delinsCCTT (n.1006-16_1006-13delinsCCTT)
c.688-16_688-13delinsCCTT (n.688-16_688-13delinsCCTT)
c.229-16_229-13delinsCCTT (n.229-16_229-13delinsCCTT)
10g.122508641C=CA1941478097HTRA1c.1006-15C= (n.1006-15C=)
c.688-15C= (n.688-15C=)
c.229-15C= (n.229-15C=)
10g.122508641C>TCA1941478098HTRA1c.1006-15C>T (n.1006-15C>T)
c.688-15C>T (n.688-15C>T)
c.229-15C>T (n.229-15C>T)
dbSNP gnomAD v4
10g.122508644_122508646delCA5726030HTRA1c.1006-12_1006-10del (n.1006-12_1006-10del)
c.688-12_688-10del (n.688-12_688-10del)
c.229-12_229-10del (n.229-12_229-10del)
dbSNP ExAC gnomAD v2
10g.122508644C>ACA2611247015HTRA1c.1006-12C>A (n.1006-12C>A)
c.688-12C>A (n.688-12C>A)
c.229-12C>A (n.229-12C>A)
gnomAD v4
10g.122508645T>CCA660911799HTRA1c.1006-11T>C (n.1006-11T>C)
c.688-11T>C (n.688-11T>C)
c.229-11T>C (n.229-11T>C)
dbSNP gnomAD v3 gnomAD v4
10g.122508645T=CA1941478099HTRA1c.1006-11T= (n.1006-11T=)
c.688-11T= (n.688-11T=)
c.229-11T= (n.229-11T=)
10g.122508647G>ACA2611247016HTRA1c.1006-9G>A (n.1006-9G>A)
c.688-9G>A (n.688-9G>A)
c.229-9G>A (n.229-9G>A)
gnomAD v4
10g.122508648C>ACA2611247018HTRA1c.1006-8C>A (n.1006-8C>A)
c.688-8C>A (n.688-8C>A)
c.229-8C>A (n.229-8C>A)
gnomAD v4
10g.122508648C>TCA2611247017HTRA1c.1006-8C>T (n.1006-8C>T)
c.688-8C>T (n.688-8C>T)
c.229-8C>T (n.229-8C>T)
gnomAD v4
10g.122508650T>CCA2611247019HTRA1c.1006-6T>C (n.1006-6T>C)
c.688-6T>C (n.688-6T>C)
c.229-6T>C (n.229-6T>C)
gnomAD v4
10g.122508653C>ACA2611247020HTRA1c.1006-3C>A (n.1006-3C>A)
c.688-3C>A (n.688-3C>A)
c.229-3C>A (n.229-3C>A)
gnomAD v4
10g.122508653C>TCA2611247021HTRA1c.1006-3C>T (n.1006-3C>T)
c.688-3C>T (n.688-3C>T)
c.229-3C>T (n.229-3C>T)
gnomAD v4
10g.122508654A>CCA378586276HTRA1c.1006-2A>C (n.1006-2A>C)
c.688-2A>C (n.688-2A>C)
c.229-2A>C (n.229-2A>C)
10g.122508654A>GCA378586277HTRA1c.1006-2A>G (n.1006-2A>G)
c.688-2A>G (n.688-2A>G)
c.229-2A>G (n.229-2A>G)
gnomAD v4
10g.122508654A>TCA378586278HTRA1c.1006-2A>T (n.1006-2A>T)
c.688-2A>T (n.688-2A>T)
c.229-2A>T (n.229-2A>T)
10g.122508655G>ACA378586279HTRA1c.1006-1G>A (n.1006-1G>A)
c.688-1G>A (n.688-1G>A)
c.229-1G>A (n.229-1G>A)
dbSNP gnomAD v4
10g.122508655G>CCA378586281HTRA1c.1006-1G>C (n.1006-1G>C)
c.688-1G>C (n.688-1G>C)
c.229-1G>C (n.229-1G>C)
10g.122508655G=CA1941478100HTRA1c.1006-1G= (n.1006-1G=)
c.688-1G= (n.688-1G=)
c.229-1G= (n.229-1G=)
10g.122508655G>TCA378586285HTRA1c.1006-1G>T (n.1006-1G>T)
c.688-1G>T (n.688-1G>T)
c.229-1G>T (n.229-1G>T)
10g.122508656G>ACA378586287HTRA1c.1006G>A (p.Asp336Asn)
c.688G>A (p.Asp230Asn)
c.229G>A (p.Asp77Asn)
10g.122508656G>CCA378586288HTRA1c.1006G>C (p.Asp336His)
c.688G>C (p.Asp230His)
c.229G>C (p.Asp77His)
10g.122508656G>TCA378586292HTRA1c.1006G>T (p.Asp336Tyr)
c.688G>T (p.Asp230Tyr)
c.229G>T (p.Asp77Tyr)
10g.122508657A>CCA378586296HTRA1c.1007A>C (p.Asp336Ala)
c.689A>C (p.Asp230Ala)
c.230A>C (p.Asp77Ala)
10g.122508657A>GCA378586299HTRA1c.1007A>G (p.Asp336Gly)
c.689A>G (p.Asp230Gly)
c.230A>G (p.Asp77Gly)
10g.122508657A>TCA378586298HTRA1c.1007A>T (p.Asp336Val)
c.689A>T (p.Asp230Val)
c.230A>T (p.Asp77Val)
10g.122508658C>ACA378586302HTRA1c.1008C>A (p.Asp336Glu)
c.690C>A (p.Asp230Glu)
c.231C>A (p.Asp77Glu)
gnomAD v4
10g.122508658C=CA1941478101HTRA1c.1008C= (p.Asp336=)
c.690C= (p.Asp230=)
c.231C= (p.Asp77=)
10g.122508658C>GCA378586306HTRA1c.1008C>G (p.Asp336Glu)
c.690C>G (p.Asp230Glu)
c.231C>G (p.Asp77Glu)
10g.122508658C>TCA5726031HTRA1c.1008C>T (p.Asp336=)
c.690C>T (p.Asp230=)
c.231C>T (p.Asp77=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122508659G>ACA5726032HTRA1c.1009G>A (p.Gly337Ser)
c.691G>A (p.Gly231Ser)
c.232G>A (p.Gly78Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122508659G>CCA378586311HTRA1c.1009G>C (p.Gly337Arg)
c.691G>C (p.Gly231Arg)
c.232G>C (p.Gly78Arg)
gnomAD v4
10g.122508659G=CA1941478102HTRA1c.1009G= (p.Gly337=)
c.691G= (p.Gly231=)
c.232G= (p.Gly78=)
10g.122508659G>TCA5726033HTRA1c.1009G>T (p.Gly337Cys)
c.691G>T (p.Gly231Cys)
c.232G>T (p.Gly78Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122508660G>ACA378586313HTRA1c.1010G>A (p.Gly337Asp)
c.692G>A (p.Gly231Asp)
c.233G>A (p.Gly78Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122508660G>CCA378586314HTRA1c.1010G>C (p.Gly337Ala)
c.692G>C (p.Gly231Ala)
c.233G>C (p.Gly78Ala)
10g.122508660G=CA1941478103HTRA1c.1010G= (p.Gly337=)
c.692G= (p.Gly231=)
c.233G= (p.Gly78=)
10g.122508660G>TCA378586315HTRA1c.1010G>T (p.Gly337Val)
c.692G>T (p.Gly231Val)
c.233G>T (p.Gly78Val)
10g.122508661T>ACA471667096HTRA1c.1011T>A (p.Gly337=)
c.693T>A (p.Gly231=)
c.234T>A (p.Gly78=)
10g.122508661T>CCA471667097HTRA1c.1011T>C (p.Gly337=)
c.693T>C (p.Gly231=)
c.234T>C (p.Gly78=)
ClinVar gnomAD v4
10g.122508661T>GCA471667098HTRA1c.1011T>G (p.Gly337=)
c.693T>G (p.Gly231=)
c.234T>G (p.Gly78=)
10g.122508662G>ACA378586316HTRA1c.1012G>A (p.Glu338Lys)
c.694G>A (p.Glu232Lys)
c.235G>A (p.Glu79Lys)
10g.122508662G>CCA378586318HTRA1c.1012G>C (p.Glu338Gln)
c.694G>C (p.Glu232Gln)
c.235G>C (p.Glu79Gln)
10g.122508662G>TCA378586321HTRA1c.1012G>T (p.Glu338Ter)
c.694G>T (p.Glu232Ter)
c.235G>T (p.Glu79Ter)
10g.122508663A>CCA378586327HTRA1c.1013A>C (p.Glu338Ala)
c.695A>C (p.Glu232Ala)
c.236A>C (p.Glu79Ala)
10g.122508663A>GCA378586322HTRA1c.1013A>G (p.Glu338Gly)
c.695A>G (p.Glu232Gly)
c.236A>G (p.Glu79Gly)
10g.122508663A>TCA378586323HTRA1c.1013A>T (p.Glu338Val)
c.695A>T (p.Glu232Val)
c.236A>T (p.Glu79Val)
10g.122508664A>CCA378586331HTRA1c.1014A>C (p.Glu338Asp)
c.696A>C (p.Glu232Asp)
c.237A>C (p.Glu79Asp)
10g.122508664A>GCA471667099HTRA1c.1014A>G (p.Glu338=)
c.696A>G (p.Glu232=)
c.237A>G (p.Glu79=)
gnomAD v4
10g.122508664A>TCA378586334HTRA1c.1014A>T (p.Glu338Asp)
c.696A>T (p.Glu232Asp)
c.237A>T (p.Glu79Asp)

Number of alleles fetched