Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94418886_94423301delCA257749COL1A2c.2025+334_2565+183del
c.2019+334_2559+183del
 ClinVar
7g.94423073_94423075dupCA4347468COL1A2c.2520_2522dup (p.Gly841_Phe842insGly)
n.603_605dup
n.917_919dup
c.2514_2516dup (p.Gly839_Phe840insGly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423075delCA918076057COL1A2c.2522del (p.Gly841AlafsTer?)
n.605del
n.919del
c.2516del (p.Gly839AlafsTer?)
 dbSNP
7g.94423075G>ACA368224085COL1A2c.2522G>A (p.Gly841Asp)
n.605G>A
n.919G>A
c.2516G>A (p.Gly839Asp)
7g.94423075G>CCA368224086COL1A2c.2522G>C (p.Gly841Ala)
n.605G>C
n.919G>C
c.2516G>C (p.Gly839Ala)
7g.94423075G>TCA368224087COL1A2c.2522G>T (p.Gly841Val)
n.605G>T
n.919G>T
c.2516G>T (p.Gly839Val)
7g.94423076C>ACA456489649COL1A2c.2523C>A (p.Gly841=)
n.606C>A
n.920C>A
c.2517C>A (p.Gly839=)
7g.94423076C>GCA456489650COL1A2c.2523C>G (p.Gly841=)
n.606C>G
n.920C>G
c.2517C>G (p.Gly839=)
7g.94423076C>TCA456489651COL1A2c.2523C>T (p.Gly841=)
n.606C>T
n.920C>T
c.2517C>T (p.Gly839=)
7g.94423077T>ACA368224090COL1A2c.2524T>A (p.Phe842Ile)
n.607T>A
n.921T>A
c.2518T>A (p.Phe840Ile)
7g.94423077T>CCA368224089COL1A2c.2524T>C (p.Phe842Leu)
n.607T>C
n.921T>C
c.2518T>C (p.Phe840Leu)
 ClinVar gnomAD v4
7g.94423077T>GCA368224088COL1A2c.2524T>G (p.Phe842Val)
n.607T>G
n.921T>G
c.2518T>G (p.Phe840Val)
 COSMIC
7g.94423078T>ACA368224091COL1A2c.2525T>A (p.Phe842Tyr)
n.608T>A
n.922T>A
c.2519T>A (p.Phe840Tyr)
7g.94423078T>CCA368224092COL1A2c.2525T>C (p.Phe842Ser)
n.608T>C
n.922T>C
c.2519T>C (p.Phe840Ser)
7g.94423078T>GCA368224093COL1A2c.2525T>G (p.Phe842Cys)
n.608T>G
n.922T>G
c.2519T>G (p.Phe840Cys)
7g.94423079C>ACA368224094COL1A2c.2526C>A (p.Phe842Leu)
n.609C>A
n.923C>A
c.2520C>A (p.Phe840Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.94423079C=CA1726776890COL1A2c.2526C= (p.Phe842=)
n.609C=
n.923C=
c.2520C= (p.Phe840=)
7g.94423079C>GCA368224095COL1A2c.2526C>G (p.Phe842Leu)
n.609C>G
n.923C>G
c.2520C>G (p.Phe840Leu)
7g.94423079C>TCA4347469COL1A2c.2526C>T (p.Phe842=)
n.609C>T
n.923C>T
c.2520C>T (p.Phe840=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423080G>ACA4347470COL1A2c.2527G>A (p.Ala843Thr)
n.610G>A
n.924G>A
c.2521G>A (p.Ala841Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94423080G>CCA368224096COL1A2c.2527G>C (p.Ala843Pro)
n.610G>C
n.924G>C
c.2521G>C (p.Ala841Pro)
 dbSNP
7g.94423080G=CA1726776902COL1A2c.2527G= (p.Ala843=)
n.610G=
n.924G=
c.2521G= (p.Ala841=)
7g.94423080G>TCA368224097COL1A2c.2527G>T (p.Ala843Ser)
n.610G>T
n.924G>T
c.2521G>T (p.Ala841Ser)
7g.94423081C>ACA368224098COL1A2c.2528C>A (p.Ala843Asp)
n.611C>A
n.925C>A
c.2522C>A (p.Ala841Asp)
7g.94423081C>GCA368224099COL1A2c.2528C>G (p.Ala843Gly)
n.611C>G
n.925C>G
c.2522C>G (p.Ala841Gly)
7g.94423081C>TCA368224100COL1A2c.2528C>T (p.Ala843Val)
n.611C>T
n.925C>T
c.2522C>T (p.Ala841Val)
 gnomAD v4
7g.94423082T>ACA4347471COL1A2c.2529T>A (p.Ala843=)
n.612T>A
n.926T>A
c.2523T>A (p.Ala841=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94423082T>CCA456489653COL1A2c.2529T>C (p.Ala843=)
n.612T>C
n.926T>C
c.2523T>C (p.Ala841=)
7g.94423082T>GCA456489652COL1A2c.2529T>G (p.Ala843=)
n.612T>G
n.926T>G
c.2523T>G (p.Ala841=)
7g.94423082T=CA1726776907COL1A2c.2529T= (p.Ala843=)
n.612T=
n.926T=
c.2523T= (p.Ala841=)
7g.94423083G>ACA368224103COL1A2c.2530G>A (p.Gly844Ser)
n.613G>A
n.927G>A
c.2524G>A (p.Gly842Ser)
7g.94423083G>CCA368224102COL1A2c.2530G>C (p.Gly844Arg)
n.613G>C
n.927G>C
c.2524G>C (p.Gly842Arg)
7g.94423083G>TCA368224101COL1A2c.2530G>T (p.Gly844Cys)
n.613G>T
n.927G>T
c.2524G>T (p.Gly842Cys)
7g.94423084G>ACA368224104COL1A2c.2531G>A (p.Gly844Asp)
n.614G>A
n.928G>A
c.2525G>A (p.Gly842Asp)
7g.94423084G>CCA16042607COL1A2c.2531G>C (p.Gly844Ala)
n.614G>C
n.928G>C
c.2525G>C (p.Gly842Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94423084G=CA1726776916COL1A2c.2531G= (p.Gly844=)
n.614G=
n.928G=
c.2525G= (p.Gly842=)
7g.94423084G>TCA368224105COL1A2c.2531G>T (p.Gly844Val)
n.614G>T
n.928G>T
c.2525G>T (p.Gly842Val)
7g.94423085T>ACA456489654COL1A2c.2532T>A (p.Gly844=)
n.615T>A
n.929T>A
c.2526T>A (p.Gly842=)
 gnomAD v4
7g.94423085T>CCA456489655COL1A2c.2532T>C (p.Gly844=)
n.615T>C
n.929T>C
c.2526T>C (p.Gly842=)
7g.94423085T>GCA456489656COL1A2c.2532T>G (p.Gly844=)
n.615T>G
n.929T>G
c.2526T>G (p.Gly842=)
 gnomAD v4
7g.94423085T=CA1726776932COL1A2c.2532T= (p.Gly844=)
n.615T=
n.929T=
c.2526T= (p.Gly842=)
7g.94423086G>ACA368224106COL1A2c.2533G>A (p.Glu845Lys)
n.616G>A
n.930G>A
c.2527G>A (p.Glu843Lys)
7g.94423086G>CCA368224107COL1A2c.2533G>C (p.Glu845Gln)
n.616G>C
n.930G>C
c.2527G>C (p.Glu843Gln)
7g.94423086G>TCA368224108COL1A2c.2533G>T (p.Glu845Ter)
n.616G>T
n.930G>T
c.2527G>T (p.Glu843Ter)
7g.94423086dupCA915945371COL1A2c.2533dup (p.Glu845GlyfsTer?)
n.616dup
n.930dup
c.2527dup (p.Glu843GlyfsTer?)
 ClinVar dbSNP
7g.94423087A>CCA368224111COL1A2c.2534A>C (p.Glu845Ala)
n.617A>C
n.931A>C
c.2528A>C (p.Glu843Ala)
7g.94423087A>GCA368224109COL1A2c.2534A>G (p.Glu845Gly)
n.617A>G
n.931A>G
c.2528A>G (p.Glu843Gly)
7g.94423087A>TCA368224110COL1A2c.2534A>T (p.Glu845Val)
n.617A>T
n.931A>T
c.2528A>T (p.Glu843Val)
7g.94423088G>ACA456489657COL1A2c.2535G>A (p.Glu845=)
n.618G>A
n.932G>A
c.2529G>A (p.Glu843=)
 dbSNP
7g.94423088G>CCA368224112COL1A2c.2535G>C (p.Glu845Asp)
n.618G>C
n.932G>C
c.2529G>C (p.Glu843Asp)

Number of alleles fetched