Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189058876G>ACA2022445COL5A2c.2103C>T (p.Pro701=)
n.209C>T
c.942C>T (p.Pro314=)
c.1965C>T (p.Pro655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189058876G>CCA430323892COL5A2c.2103C>G (p.Pro701=)
n.209C>G
c.942C>G (p.Pro314=)
c.1965C>G (p.Pro655=)
2g.189058876G=CA1315428540COL5A2c.2103C= (p.Pro701=)
n.209C=
c.942C= (p.Pro314=)
c.1965C= (p.Pro655=)
2g.189058876G>TCA430323893COL5A2c.2103C>A (p.Pro701=)
n.209C>A
c.942C>A (p.Pro314=)
c.1965C>A (p.Pro655=)
 gnomAD v4
2g.189058877G>ACA349876312COL5A2c.2102C>T (p.Pro701Leu)
n.208C>T
c.941C>T (p.Pro314Leu)
c.1964C>T (p.Pro655Leu)
2g.189058877G>CCA349876315COL5A2c.2102C>G (p.Pro701Arg)
n.208C>G
c.941C>G (p.Pro314Arg)
c.1964C>G (p.Pro655Arg)
2g.189058877G>TCA349876317COL5A2c.2102C>A (p.Pro701His)
n.208C>A
c.941C>A (p.Pro314His)
c.1964C>A (p.Pro655His)
2g.189058878G>ACA2022446COL5A2c.2101C>T (p.Pro701Ser)
n.207C>T
c.940C>T (p.Pro314Ser)
c.1963C>T (p.Pro655Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189058878G>CCA349876326COL5A2c.2101C>G (p.Pro701Ala)
n.207C>G
c.940C>G (p.Pro314Ala)
c.1963C>G (p.Pro655Ala)
2g.189058878G=CA1315428541COL5A2c.2101C= (p.Pro701=)
n.207C=
c.940C= (p.Pro314=)
c.1963C= (p.Pro655=)
2g.189058878G>TCA243856COL5A2c.2101C>A (p.Pro701Thr)
n.207C>A
c.940C>A (p.Pro314Thr)
c.1963C>A (p.Pro655Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189058879A>CCA349876341COL5A2c.2100T>G (p.Asp700Glu)
n.206T>G
c.939T>G (p.Asp313Glu)
c.1962T>G (p.Asp654Glu)
2g.189058879A>GCA430323894COL5A2c.2100T>C (p.Asp700=)
n.206T>C
c.939T>C (p.Asp313=)
c.1962T>C (p.Asp654=)
2g.189058879A>TCA349876333COL5A2c.2100T>A (p.Asp700Glu)
n.206T>A
c.939T>A (p.Asp313Glu)
c.1962T>A (p.Asp654Glu)
2g.189058880T>ACA349876346COL5A2c.2099A>T (p.Asp700Val)
n.205A>T
c.938A>T (p.Asp313Val)
c.1961A>T (p.Asp654Val)
2g.189058880T>CCA349876353COL5A2c.2099A>G (p.Asp700Gly)
n.205A>G
c.938A>G (p.Asp313Gly)
c.1961A>G (p.Asp654Gly)
2g.189058880T>GCA349876348COL5A2c.2099A>C (p.Asp700Ala)
n.205A>C
c.938A>C (p.Asp313Ala)
c.1961A>C (p.Asp654Ala)
2g.189058881C>ACA349876358COL5A2c.2098G>T (p.Asp700Tyr)
n.204G>T
c.937G>T (p.Asp313Tyr)
c.1960G>T (p.Asp654Tyr)
2g.189058881C>GCA349876361COL5A2c.2098G>C (p.Asp700His)
n.204G>C
c.937G>C (p.Asp313His)
c.1960G>C (p.Asp654His)
2g.189058881C>TCA349876364COL5A2c.2098G>A (p.Asp700Asn)
n.204G>A
c.937G>A (p.Asp313Asn)
c.1960G>A (p.Asp654Asn)
2g.189058882T>ACA430323896COL5A2c.2097A>T (p.Gly699=)
n.203A>T
c.936A>T (p.Gly312=)
c.1959A>T (p.Gly653=)
2g.189058882T>CCA430323897COL5A2c.2097A>G (p.Gly699=)
n.203A>G
c.936A>G (p.Gly312=)
c.1959A>G (p.Gly653=)
 dbSNP gnomAD v3 gnomAD v4
2g.189058882T>GCA430323898COL5A2c.2097A>C (p.Gly699=)
n.203A>C
c.936A>C (p.Gly312=)
c.1959A>C (p.Gly653=)
2g.189058882T=CA1315428542COL5A2c.2097A= (p.Gly699=)
n.203A=
c.936A= (p.Gly312=)
c.1959A= (p.Gly653=)
2g.189058883C>ACA349876365COL5A2c.2096G>T (p.Gly699Val)
n.202G>T
c.935G>T (p.Gly312Val)
c.1958G>T (p.Gly653Val)
2g.189058883C>GCA349876367COL5A2c.2096G>C (p.Gly699Ala)
n.202G>C
c.935G>C (p.Gly312Ala)
c.1958G>C (p.Gly653Ala)
2g.189058883C>TCA349876370COL5A2c.2096G>A (p.Gly699Glu)
n.202G>A
c.935G>A (p.Gly312Glu)
c.1958G>A (p.Gly653Glu)
2g.189058884delCA2662314149COL5A2c.2096del (p.Gly699GlufsTer9)
n.202del
c.935del (p.Gly312GlufsTer9)
c.1958del (p.Gly653GlufsTer9)
 gnomAD v4
2g.189058884C>ACA349876374COL5A2c.2095G>T (p.Gly699Ter)
n.201G>T
c.934G>T (p.Gly312Ter)
c.1957G>T (p.Gly653Ter)
2g.189058884C>GCA349876378COL5A2c.2095G>C (p.Gly699Arg)
n.201G>C
c.934G>C (p.Gly312Arg)
c.1957G>C (p.Gly653Arg)
2g.189058884C>TCA349876384COL5A2c.2095G>A (p.Gly699Arg)
n.201G>A
c.934G>A (p.Gly312Arg)
c.1957G>A (p.Gly653Arg)
2g.189058885A>CCA430323904COL5A2c.2094T>G (p.Pro698=)
n.200T>G
c.933T>G (p.Pro311=)
c.1956T>G (p.Pro652=)
2g.189058885A>GCA430323901COL5A2c.2094T>C (p.Pro698=)
n.200T>C
c.933T>C (p.Pro311=)
c.1956T>C (p.Pro652=)
2g.189058885A>TCA430323903COL5A2c.2094T>A (p.Pro698=)
n.200T>A
c.933T>A (p.Pro311=)
c.1956T>A (p.Pro652=)
2g.189058886G>ACA349876388COL5A2c.2093C>T (p.Pro698Leu)
n.199C>T
c.932C>T (p.Pro311Leu)
c.1955C>T (p.Pro652Leu)
2g.189058886G>CCA349876391COL5A2c.2093C>G (p.Pro698Arg)
n.199C>G
c.932C>G (p.Pro311Arg)
c.1955C>G (p.Pro652Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189058886G=CA1315428543COL5A2c.2093C= (p.Pro698=)
n.199C=
c.932C= (p.Pro311=)
c.1955C= (p.Pro652=)
2g.189058886G>TCA349876394COL5A2c.2093C>A (p.Pro698His)
n.199C>A
c.932C>A (p.Pro311His)
c.1955C>A (p.Pro652His)
2g.189058887G>ACA2022447COL5A2c.2092C>T (p.Pro698Ser)
n.198C>T
c.931C>T (p.Pro311Ser)
c.1954C>T (p.Pro652Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189058887G>CCA349876403COL5A2c.2092C>G (p.Pro698Ala)
n.198C>G
c.931C>G (p.Pro311Ala)
c.1954C>G (p.Pro652Ala)
2g.189058887G=CA1315428544COL5A2c.2092C= (p.Pro698=)
n.198C=
c.931C= (p.Pro311=)
c.1954C= (p.Pro652=)
2g.189058887G>TCA62600127COL5A2c.2092C>A (p.Pro698Thr)
n.198C>A
c.931C>A (p.Pro311Thr)
c.1954C>A (p.Pro652Thr)
 ClinVar dbSNP gnomAD v2
2g.189058888A>CCA430323905COL5A2c.2091T>G (p.Val697=)
n.197T>G
c.930T>G (p.Val310=)
c.1953T>G (p.Val651=)
2g.189058888A>GCA430323906COL5A2c.2091T>C (p.Val697=)
n.197T>C
c.930T>C (p.Val310=)
c.1953T>C (p.Val651=)
2g.189058888A>TCA430323907COL5A2c.2091T>A (p.Val697=)
n.197T>A
c.930T>A (p.Val310=)
c.1953T>A (p.Val651=)
2g.189058889A>CCA349876407COL5A2c.2090T>G (p.Val697Gly)
n.196T>G
c.929T>G (p.Val310Gly)
c.1952T>G (p.Val651Gly)
2g.189058889A>GCA349876411COL5A2c.2090T>C (p.Val697Ala)
n.196T>C
c.929T>C (p.Val310Ala)
c.1952T>C (p.Val651Ala)
2g.189058889A>TCA349876412COL5A2c.2090T>A (p.Val697Asp)
n.196T>A
c.929T>A (p.Val310Asp)
c.1952T>A (p.Val651Asp)
2g.189058890C>ACA349876417COL5A2c.2089G>T (p.Val697Phe)
n.195G>T
c.928G>T (p.Val310Phe)
c.1951G>T (p.Val651Phe)
 gnomAD v4
2g.189058890C>GCA349876419COL5A2c.2089G>C (p.Val697Leu)
n.195G>C
c.928G>C (p.Val310Leu)
c.1951G>C (p.Val651Leu)

Number of alleles fetched