Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189061500_189068944dupCA2580616652COL5A2c.1159-60_2031+62dup
c.359-2511_870+62dup
c.1021-60_1893+62dup
2g.189062865C>ACA430324374COL5A2c.1977G>T (p.Pro659=)
n.83G>T
c.816G>T (p.Pro272=)
c.1839G>T (p.Pro613=)
2g.189062865C=CA1315430339COL5A2c.1977G= (p.Pro659=)
n.83G=
c.816G= (p.Pro272=)
c.1839G= (p.Pro613=)
2g.189062865C>GCA430324375COL5A2c.1977G>C (p.Pro659=)
n.83G>C
c.816G>C (p.Pro272=)
c.1839G>C (p.Pro613=)
2g.189062865C>TCA322857COL5A2c.1977G>A (p.Pro659=)
n.83G>A
c.816G>A (p.Pro272=)
c.1839G>A (p.Pro613=)
 ClinVar dbSNP gnomAD v4
2g.189062866G>ACA320602COL5A2c.1976C>T (p.Pro659Leu)
n.82C>T
c.815C>T (p.Pro272Leu)
c.1838C>T (p.Pro613Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189062866G>CCA349878887COL5A2c.1976C>G (p.Pro659Arg)
n.82C>G
c.815C>G (p.Pro272Arg)
c.1838C>G (p.Pro613Arg)
2g.189062866G=CA1315430340COL5A2c.1976C= (p.Pro659=)
n.82C=
c.815C= (p.Pro272=)
c.1838C= (p.Pro613=)
2g.189062866G>TCA349878889COL5A2c.1976C>A (p.Pro659Gln)
n.82C>A
c.815C>A (p.Pro272Gln)
c.1838C>A (p.Pro613Gln)
2g.189062867G>ACA349878892COL5A2c.1975C>T (p.Pro659Ser)
n.81C>T
c.814C>T (p.Pro272Ser)
c.1837C>T (p.Pro613Ser)
 COSMIC
2g.189062867G>CCA349878895COL5A2c.1975C>G (p.Pro659Ala)
n.81C>G
c.814C>G (p.Pro272Ala)
c.1837C>G (p.Pro613Ala)
2g.189062867G>TCA349878897COL5A2c.1975C>A (p.Pro659Thr)
n.81C>A
c.814C>A (p.Pro272Thr)
c.1837C>A (p.Pro613Thr)
2g.189062868C>ACA430324376COL5A2c.1974G>T (p.Pro658=)
n.80G>T
c.813G>T (p.Pro271=)
c.1836G>T (p.Pro612=)
 COSMIC
2g.189062868C=CA1315430341COL5A2c.1974G= (p.Pro658=)
n.80G=
c.813G= (p.Pro271=)
c.1836G= (p.Pro612=)
2g.189062868C>GCA430324377COL5A2c.1974G>C (p.Pro658=)
n.80G>C
c.813G>C (p.Pro271=)
c.1836G>C (p.Pro612=)
2g.189062868C>TCA2022507COL5A2c.1974G>A (p.Pro658=)
n.80G>A
c.813G>A (p.Pro271=)
c.1836G>A (p.Pro612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189062869G>ACA2022508COL5A2c.1973C>T (p.Pro658Leu)
n.79C>T
c.812C>T (p.Pro271Leu)
c.1835C>T (p.Pro612Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189062869G>CCA349878905COL5A2c.1973C>G (p.Pro658Arg)
n.79C>G
c.812C>G (p.Pro271Arg)
c.1835C>G (p.Pro612Arg)
2g.189062869G=CA1315430342COL5A2c.1973C= (p.Pro658=)
n.79C=
c.812C= (p.Pro271=)
c.1835C= (p.Pro612=)
2g.189062869G>TCA349878907COL5A2c.1973C>A (p.Pro658Gln)
n.79C>A
c.812C>A (p.Pro271Gln)
c.1835C>A (p.Pro612Gln)
 ClinVar dbSNP
2g.189062870G>ACA349878911COL5A2c.1972C>T (p.Pro658Ser)
n.78C>T
c.811C>T (p.Pro271Ser)
c.1834C>T (p.Pro612Ser)
 ClinVar dbSNP gnomAD v4
2g.189062870G>CCA349878914COL5A2c.1972C>G (p.Pro658Ala)
n.78C>G
c.811C>G (p.Pro271Ala)
c.1834C>G (p.Pro612Ala)
 COSMIC
2g.189062870G=CA1315430343COL5A2c.1972C= (p.Pro658=)
n.78C=
c.811C= (p.Pro271=)
c.1834C= (p.Pro612=)
2g.189062870G>TCA349878916COL5A2c.1972C>A (p.Pro658Thr)
n.78C>A
c.811C>A (p.Pro271Thr)
c.1834C>A (p.Pro612Thr)
2g.189062871G>ACA430324379COL5A2c.1971C>T (p.Gly657=)
n.77C>T
c.810C>T (p.Gly270=)
c.1833C>T (p.Gly611=)
 ClinVar dbSNP
2g.189062871G>CCA430324380COL5A2c.1971C>G (p.Gly657=)
n.77C>G
c.810C>G (p.Gly270=)
c.1833C>G (p.Gly611=)
2g.189062871G=CA1315430344COL5A2c.1971C= (p.Gly657=)
n.77C=
c.810C= (p.Gly270=)
c.1833C= (p.Gly611=)
2g.189062871G>TCA430324381COL5A2c.1971C>A (p.Gly657=)
n.77C>A
c.810C>A (p.Gly270=)
c.1833C>A (p.Gly611=)
2g.189062872C>ACA349878924COL5A2c.1970G>T (p.Gly657Val)
n.76G>T
c.809G>T (p.Gly270Val)
c.1832G>T (p.Gly611Val)
2g.189062872C=CA1315430345COL5A2c.1970G= (p.Gly657=)
n.76G=
c.809G= (p.Gly270=)
c.1832G= (p.Gly611=)
2g.189062872C>GCA349878926COL5A2c.1970G>C (p.Gly657Ala)
n.76G>C
c.809G>C (p.Gly270Ala)
c.1832G>C (p.Gly611Ala)
2g.189062872C>TCA349878921COL5A2c.1970G>A (p.Gly657Asp)
n.76G>A
c.809G>A (p.Gly270Asp)
c.1832G>A (p.Gly611Asp)
 dbSNP
2g.189062873C>ACA349878929COL5A2c.1969G>T (p.Gly657Cys)
n.75G>T
c.808G>T (p.Gly270Cys)
c.1831G>T (p.Gly611Cys)
2g.189062873C>GCA349878932COL5A2c.1969G>C (p.Gly657Arg)
n.75G>C
c.808G>C (p.Gly270Arg)
c.1831G>C (p.Gly611Arg)
2g.189062873C>TCA349878934COL5A2c.1969G>A (p.Gly657Ser)
n.75G>A
c.808G>A (p.Gly270Ser)
c.1831G>A (p.Gly611Ser)
2g.189062874C>ACA430324382COL5A2c.1968G>T (p.Val656=)
n.74G>T
c.807G>T (p.Val269=)
c.1830G>T (p.Val610=)
2g.189062874C=CA1315430346COL5A2c.1968G= (p.Val656=)
n.74G=
c.807G= (p.Val269=)
c.1830G= (p.Val610=)
2g.189062874C>GCA430324383COL5A2c.1968G>C (p.Val656=)
n.74G>C
c.807G>C (p.Val269=)
c.1830G>C (p.Val610=)
2g.189062874C>TCA430324385COL5A2c.1968G>A (p.Val656=)
n.74G>A
c.807G>A (p.Val269=)
c.1830G>A (p.Val610=)
 dbSNP gnomAD v4
2g.189062875A=CA1315430347COL5A2c.1967T= (p.Val656=)
n.73T=
c.806T= (p.Val269=)
c.1829T= (p.Val610=)
2g.189062875A>CCA349878938COL5A2c.1967T>G (p.Val656Gly)
n.73T>G
c.806T>G (p.Val269Gly)
c.1829T>G (p.Val610Gly)
 dbSNP
2g.189062875A>GCA349878941COL5A2c.1967T>C (p.Val656Ala)
n.73T>C
c.806T>C (p.Val269Ala)
c.1829T>C (p.Val610Ala)
2g.189062875A>TCA349878944COL5A2c.1967T>A (p.Val656Glu)
n.73T>A
c.806T>A (p.Val269Glu)
c.1829T>A (p.Val610Glu)
2g.189062876C>ACA349878948COL5A2c.1966G>T (p.Val656Leu)
n.72G>T
c.805G>T (p.Val269Leu)
c.1828G>T (p.Val610Leu)
2g.189062876C=CA1315430348COL5A2c.1966G= (p.Val656=)
n.72G=
c.805G= (p.Val269=)
c.1828G= (p.Val610=)
2g.189062876C>GCA349878949COL5A2c.1966G>C (p.Val656Leu)
n.72G>C
c.805G>C (p.Val269Leu)
c.1828G>C (p.Val610Leu)
2g.189062876C>TCA349878952COL5A2c.1966G>A (p.Val656Met)
n.72G>A
c.805G>A (p.Val269Met)
c.1828G>A (p.Val610Met)
 dbSNP gnomAD v2 gnomAD v4
2g.189062877A>CCA430324387COL5A2c.1965T>G (p.Pro655=)
n.71T>G
c.804T>G (p.Pro268=)
c.1827T>G (p.Pro609=)
2g.189062877A>GCA430324389COL5A2c.1965T>C (p.Pro655=)
n.71T>C
c.804T>C (p.Pro268=)
c.1827T>C (p.Pro609=)
2g.189062877A>TCA430324388COL5A2c.1965T>A (p.Pro655=)
n.71T>A
c.804T>A (p.Pro268=)
c.1827T>A (p.Pro609=)
 gnomAD v4

Number of alleles fetched