Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94418886_94423301delCA257749COL1A2c.2025+334_2565+183del
c.2019+334_2559+183del
 ClinVar
7g.94423071C>ACA368224077COL1A2c.2518C>A (p.Pro840Thr)
n.601C>A
n.915C>A
c.2512C>A (p.Pro838Thr)
7g.94423071C>GCA368224078COL1A2c.2518C>G (p.Pro840Ala)
n.601C>G
n.915C>G
c.2512C>G (p.Pro838Ala)
7g.94423071C>TCA368224079COL1A2c.2518C>T (p.Pro840Ser)
n.601C>T
n.915C>T
c.2512C>T (p.Pro838Ser)
7g.94423072C>ACA368224080COL1A2c.2519C>A (p.Pro840His)
n.602C>A
n.916C>A
c.2513C>A (p.Pro838His)
7g.94423072C=CA1726776852COL1A2c.2519C= (p.Pro840=)
n.602C=
n.916C=
c.2513C= (p.Pro838=)
7g.94423072C>GCA368224081COL1A2c.2519C>G (p.Pro840Arg)
n.602C>G
n.916C>G
c.2513C>G (p.Pro838Arg)
7g.94423072C>TCA368224082COL1A2c.2519C>T (p.Pro840Leu)
n.602C>T
n.916C>T
c.2513C>T (p.Pro838Leu)
7g.94423073T>ACA456489646COL1A2c.2520T>A (p.Pro840=)
n.603T>A
n.917T>A
c.2514T>A (p.Pro838=)
 gnomAD v4
7g.94423073T>CCA456489647COL1A2c.2520T>C (p.Pro840=)
n.603T>C
n.917T>C
c.2514T>C (p.Pro838=)
 dbSNP gnomAD v3 gnomAD v4
7g.94423073T>GCA456489648COL1A2c.2520T>G (p.Pro840=)
n.603T>G
n.917T>G
c.2514T>G (p.Pro838=)
7g.94423073T=CA1726776857COL1A2c.2520T= (p.Pro840=)
n.603T=
n.917T=
c.2514T= (p.Pro838=)
7g.94423073_94423074delinsTGCA1726776859COL1A2c.2520_2521delinsTG (p.Pro840=)
n.603_604delinsTG
n.917_918delinsTG
c.2514_2515delinsTG (p.Pro838=)
7g.94423073_94423074dupCA918076055COL1A2c.2520_2521dup (p.Gly841ValfsTer?)
n.603_604dup
n.917_918dup
c.2514_2515dup (p.Gly839ValfsTer?)
 dbSNP
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.94423074G>ACA162938043COL1A2c.2521G>A (p.Gly841Ser)
n.604G>A
n.918G>A
c.2515G>A (p.Gly839Ser)
 ClinVar dbSNP COSMIC
7g.94423074G>CCA368224083COL1A2c.2521G>C (p.Gly841Arg)
n.604G>C
n.918G>C
c.2515G>C (p.Gly839Arg)
7g.94423074G=CA1726776877COL1A2c.2521G= (p.Gly841=)
n.604G=
n.918G=
c.2515G= (p.Gly839=)
7g.94423074G>TCA368224084COL1A2c.2521G>T (p.Gly841Cys)
n.604G>T
n.918G>T
c.2515G>T (p.Gly839Cys)
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)

Number of alleles fetched