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.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
2g.189062878G>ACA349878956COL5A2c.1964C>T (p.Pro655Leu)
n.70C>T
c.803C>T (p.Pro268Leu)
c.1826C>T (p.Pro609Leu)
2g.189062878G>CCA2022509COL5A2c.1964C>G (p.Pro655Arg)
n.70C>G
c.803C>G (p.Pro268Arg)
c.1826C>G (p.Pro609Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189062878G=CA1315430349COL5A2c.1964C= (p.Pro655=)
n.70C=
c.803C= (p.Pro268=)
c.1826C= (p.Pro609=)
2g.189062878G>TCA349878961COL5A2c.1964C>A (p.Pro655His)
n.70C>A
c.803C>A (p.Pro268His)
c.1826C>A (p.Pro609His)
2g.189062879G>ACA349878969COL5A2c.1963C>T (p.Pro655Ser)
n.69C>T
c.802C>T (p.Pro268Ser)
c.1825C>T (p.Pro609Ser)
 COSMIC
2g.189062879G>CCA349878967COL5A2c.1963C>G (p.Pro655Ala)
n.69C>G
c.802C>G (p.Pro268Ala)
c.1825C>G (p.Pro609Ala)
2g.189062879G>TCA349878965COL5A2c.1963C>A (p.Pro655Thr)
n.69C>A
c.802C>A (p.Pro268Thr)
c.1825C>A (p.Pro609Thr)
2g.189062880A>CCA430324392COL5A2c.1962T>G (p.Gly654=)
n.68T>G
c.801T>G (p.Gly267=)
c.1824T>G (p.Gly608=)
2g.189062880A>GCA430324393COL5A2c.1962T>C (p.Gly654=)
n.68T>C
c.801T>C (p.Gly267=)
c.1824T>C (p.Gly608=)
2g.189062880A>TCA430324394COL5A2c.1962T>A (p.Gly654=)
n.68T>A
c.801T>A (p.Gly267=)
c.1824T>A (p.Gly608=)
2g.189062881C>ACA349878972COL5A2c.1961G>T (p.Gly654Val)
n.67G>T
c.800G>T (p.Gly267Val)
c.1823G>T (p.Gly608Val)
2g.189062881C>GCA349878974COL5A2c.1961G>C (p.Gly654Ala)
n.67G>C
c.800G>C (p.Gly267Ala)
c.1823G>C (p.Gly608Ala)
2g.189062881C>TCA349878977COL5A2c.1961G>A (p.Gly654Asp)
n.67G>A
c.800G>A (p.Gly267Asp)
c.1823G>A (p.Gly608Asp)
2g.189062882C>ACA349878980COL5A2c.1960G>T (p.Gly654Cys)
n.66G>T
c.799G>T (p.Gly267Cys)
c.1822G>T (p.Gly608Cys)
2g.189062882C=CA1315430350COL5A2c.1960G= (p.Gly654=)
n.66G=
c.799G= (p.Gly267=)
c.1822G= (p.Gly608=)
2g.189062882C>GCA349878983COL5A2c.1960G>C (p.Gly654Arg)
n.66G>C
c.799G>C (p.Gly267Arg)
c.1822G>C (p.Gly608Arg)
2g.189062882C>TCA325356COL5A2c.1960G>A (p.Gly654Ser)
n.66G>A
c.799G>A (p.Gly267Ser)
c.1822G>A (p.Gly608Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189062883A=CA1315430351COL5A2c.1959T= (p.Ser653=)
n.65T=
c.798T= (p.Ser266=)
c.1821T= (p.Ser607=)
2g.189062883A>CCA430324395COL5A2c.1959T>G (p.Ser653=)
n.65T>G
c.798T>G (p.Ser266=)
c.1821T>G (p.Ser607=)
2g.189062883A>GCA2022510COL5A2c.1959T>C (p.Ser653=)
n.65T>C
c.798T>C (p.Ser266=)
c.1821T>C (p.Ser607=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189062883A>TCA430324396COL5A2c.1959T>A (p.Ser653=)
n.65T>A
c.798T>A (p.Ser266=)
c.1821T>A (p.Ser607=)
2g.189062884G>ACA349878990COL5A2c.1958C>T (p.Ser653Phe)
n.64C>T
c.797C>T (p.Ser266Phe)
c.1820C>T (p.Ser607Phe)
2g.189062884G>CCA349878992COL5A2c.1958C>G (p.Ser653Cys)
n.64C>G
c.797C>G (p.Ser266Cys)
c.1820C>G (p.Ser607Cys)
 gnomAD v4
2g.189062884G>TCA349878995COL5A2c.1958C>A (p.Ser653Tyr)
n.64C>A
c.797C>A (p.Ser266Tyr)
c.1820C>A (p.Ser607Tyr)
2g.189062885A>CCA349878999COL5A2c.1957T>G (p.Ser653Ala)
n.63T>G
c.796T>G (p.Ser266Ala)
c.1819T>G (p.Ser607Ala)
2g.189062885A>GCA349879001COL5A2c.1957T>C (p.Ser653Pro)
n.63T>C
c.796T>C (p.Ser266Pro)
c.1819T>C (p.Ser607Pro)
2g.189062885A>TCA349879003COL5A2c.1957T>A (p.Ser653Thr)
n.63T>A
c.796T>A (p.Ser266Thr)
c.1819T>A (p.Ser607Thr)
2g.189062886A>CCA430324398COL5A2c.1956T>G (p.Pro652=)
n.62T>G
c.795T>G (p.Pro265=)
c.1818T>G (p.Pro606=)
2g.189062886A>GCA430324399COL5A2c.1956T>C (p.Pro652=)
n.62T>C
c.795T>C (p.Pro265=)
c.1818T>C (p.Pro606=)
2g.189062886A>TCA430324400COL5A2c.1956T>A (p.Pro652=)
n.62T>A
c.795T>A (p.Pro265=)
c.1818T>A (p.Pro606=)
2g.189062887G>ACA2022511COL5A2c.1955C>T (p.Pro652Leu)
n.61C>T
c.794C>T (p.Pro265Leu)
c.1817C>T (p.Pro606Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189062887G>CCA349879011COL5A2c.1955C>G (p.Pro652Arg)
n.61C>G
c.794C>G (p.Pro265Arg)
c.1817C>G (p.Pro606Arg)
2g.189062887G=CA1315430352COL5A2c.1955C= (p.Pro652=)
n.61C=
c.794C= (p.Pro265=)
c.1817C= (p.Pro606=)
2g.189062887G>TCA349879007COL5A2c.1955C>A (p.Pro652His)
n.61C>A
c.794C>A (p.Pro265His)
c.1817C>A (p.Pro606His)

Number of alleles fetched