Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94418886_94423301del | CA257749 | COL1A2 | c.2025+334_2565+183del c.2019+334_2559+183del | ClinVar |
7 | g.94423069C>A | CA368224074 | COL1A2 | c.2516C>A (p.Pro839His) n.599C>A n.913C>A c.2510C>A (p.Pro837His) | |
7 | g.94423069C= | CA1726776843 | COL1A2 | c.2516C= (p.Pro839=) n.599C= n.913C= c.2510C= (p.Pro837=) | |
7 | g.94423069C>G | CA368224076 | COL1A2 | c.2516C>G (p.Pro839Arg) n.599C>G n.913C>G c.2510C>G (p.Pro837Arg) | dbSNP gnomAD v4 |
7 | g.94423069C>T | CA368224075 | COL1A2 | c.2516C>T (p.Pro839Leu) n.599C>T n.913C>T c.2510C>T (p.Pro837Leu) | |
7 | g.94423070C>A | CA456489643 | COL1A2 | c.2517C>A (p.Pro839=) n.600C>A n.914C>A c.2511C>A (p.Pro837=) | dbSNP gnomAD v4 |
7 | g.94423070C= | CA1726776850 | COL1A2 | c.2517C= (p.Pro839=) n.600C= n.914C= c.2511C= (p.Pro837=) | |
7 | g.94423070C>G | CA456489644 | COL1A2 | c.2517C>G (p.Pro839=) n.600C>G n.914C>G c.2511C>G (p.Pro837=) | |
7 | g.94423070C>T | CA456489645 | COL1A2 | c.2517C>T (p.Pro839=) n.600C>T n.914C>T c.2511C>T (p.Pro837=) | ClinVar gnomAD v4 COSMIC |
7 | g.94423071C>A | CA368224077 | COL1A2 | c.2518C>A (p.Pro840Thr) n.601C>A n.915C>A c.2512C>A (p.Pro838Thr) | |
7 | g.94423071C>G | CA368224078 | COL1A2 | c.2518C>G (p.Pro840Ala) n.601C>G n.915C>G c.2512C>G (p.Pro838Ala) | |
7 | g.94423071C>T | CA368224079 | COL1A2 | c.2518C>T (p.Pro840Ser) n.601C>T n.915C>T c.2512C>T (p.Pro838Ser) | |
7 | g.94423072C>A | CA368224080 | COL1A2 | c.2519C>A (p.Pro840His) n.602C>A n.916C>A c.2513C>A (p.Pro838His) | |
7 | g.94423072C= | CA1726776852 | COL1A2 | c.2519C= (p.Pro840=) n.602C= n.916C= c.2513C= (p.Pro838=) | |
7 | g.94423072C>G | CA368224081 | COL1A2 | c.2519C>G (p.Pro840Arg) n.602C>G n.916C>G c.2513C>G (p.Pro838Arg) | |
7 | g.94423072C>T | CA368224082 | COL1A2 | c.2519C>T (p.Pro840Leu) n.602C>T n.916C>T c.2513C>T (p.Pro838Leu) | |
7 | g.94423073T>A | CA456489646 | COL1A2 | c.2520T>A (p.Pro840=) n.603T>A n.917T>A c.2514T>A (p.Pro838=) | gnomAD v4 |
7 | g.94423073T>C | CA456489647 | COL1A2 | c.2520T>C (p.Pro840=) n.603T>C n.917T>C c.2514T>C (p.Pro838=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423073T>G | CA456489648 | COL1A2 | c.2520T>G (p.Pro840=) n.603T>G n.917T>G c.2514T>G (p.Pro838=) | |
7 | g.94423073T= | CA1726776857 | COL1A2 | c.2520T= (p.Pro840=) n.603T= n.917T= c.2514T= (p.Pro838=) | |
7 | g.94423073_94423074delinsTG | CA1726776859 | COL1A2 | c.2520_2521delinsTG (p.Pro840=) n.603_604delinsTG n.917_918delinsTG c.2514_2515delinsTG (p.Pro838=) | |
7 | g.94423073_94423074dup | CA918076055 | COL1A2 | c.2520_2521dup (p.Gly841ValfsTer?) n.603_604dup n.917_918dup c.2514_2515dup (p.Gly839ValfsTer?) | dbSNP |
7 | g.94423073_94423075dup | CA4347468 | COL1A2 | c.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 |
7 | g.94423074G>A | CA162938043 | COL1A2 | c.2521G>A (p.Gly841Ser) n.604G>A n.918G>A c.2515G>A (p.Gly839Ser) | ClinVar dbSNP COSMIC |
7 | g.94423074G>C | CA368224083 | COL1A2 | c.2521G>C (p.Gly841Arg) n.604G>C n.918G>C c.2515G>C (p.Gly839Arg) | |
7 | g.94423074G= | CA1726776877 | COL1A2 | c.2521G= (p.Gly841=) n.604G= n.918G= c.2515G= (p.Gly839=) | |
7 | g.94423074G>T | CA368224084 | COL1A2 | c.2521G>T (p.Gly841Cys) n.604G>T n.918G>T c.2515G>T (p.Gly839Cys) | |
7 | g.94423075del | CA918076057 | COL1A2 | c.2522del (p.Gly841AlafsTer?) n.605del n.919del c.2516del (p.Gly839AlafsTer?) | dbSNP |
7 | g.94423075G>A | CA368224085 | COL1A2 | c.2522G>A (p.Gly841Asp) n.605G>A n.919G>A c.2516G>A (p.Gly839Asp) | |
7 | g.94423075G>C | CA368224086 | COL1A2 | c.2522G>C (p.Gly841Ala) n.605G>C n.919G>C c.2516G>C (p.Gly839Ala) | |
7 | g.94423075G>T | CA368224087 | COL1A2 | c.2522G>T (p.Gly841Val) n.605G>T n.919G>T c.2516G>T (p.Gly839Val) | |
7 | g.94423076C>A | CA456489649 | COL1A2 | c.2523C>A (p.Gly841=) n.606C>A n.920C>A c.2517C>A (p.Gly839=) | |
7 | g.94423076C>G | CA456489650 | COL1A2 | c.2523C>G (p.Gly841=) n.606C>G n.920C>G c.2517C>G (p.Gly839=) | |
7 | g.94423076C>T | CA456489651 | COL1A2 | c.2523C>T (p.Gly841=) n.606C>T n.920C>T c.2517C>T (p.Gly839=) | |
7 | g.94423077T>A | CA368224090 | COL1A2 | c.2524T>A (p.Phe842Ile) n.607T>A n.921T>A c.2518T>A (p.Phe840Ile) | |
7 | g.94423077T>C | CA368224089 | COL1A2 | c.2524T>C (p.Phe842Leu) n.607T>C n.921T>C c.2518T>C (p.Phe840Leu) | ClinVar gnomAD v4 |
7 | g.94423077T>G | CA368224088 | COL1A2 | c.2524T>G (p.Phe842Val) n.607T>G n.921T>G c.2518T>G (p.Phe840Val) | COSMIC |
7 | g.94423078T>A | CA368224091 | COL1A2 | c.2525T>A (p.Phe842Tyr) n.608T>A n.922T>A c.2519T>A (p.Phe840Tyr) | |
7 | g.94423078T>C | CA368224092 | COL1A2 | c.2525T>C (p.Phe842Ser) n.608T>C n.922T>C c.2519T>C (p.Phe840Ser) | |
7 | g.94423078T>G | CA368224093 | COL1A2 | c.2525T>G (p.Phe842Cys) n.608T>G n.922T>G c.2519T>G (p.Phe840Cys) | |
7 | g.94423079C>A | CA368224094 | COL1A2 | c.2526C>A (p.Phe842Leu) n.609C>A n.923C>A c.2520C>A (p.Phe840Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94423079C= | CA1726776890 | COL1A2 | c.2526C= (p.Phe842=) n.609C= n.923C= c.2520C= (p.Phe840=) | |
7 | g.94423079C>G | CA368224095 | COL1A2 | c.2526C>G (p.Phe842Leu) n.609C>G n.923C>G c.2520C>G (p.Phe840Leu) | |
7 | g.94423079C>T | CA4347469 | COL1A2 | c.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 |
7 | g.94423080G>A | CA4347470 | COL1A2 | c.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 |
7 | g.94423080G>C | CA368224096 | COL1A2 | c.2527G>C (p.Ala843Pro) n.610G>C n.924G>C c.2521G>C (p.Ala841Pro) | dbSNP |
7 | g.94423080G= | CA1726776902 | COL1A2 | c.2527G= (p.Ala843=) n.610G= n.924G= c.2521G= (p.Ala841=) | |
7 | g.94423080G>T | CA368224097 | COL1A2 | c.2527G>T (p.Ala843Ser) n.610G>T n.924G>T c.2521G>T (p.Ala841Ser) | |
7 | g.94423081C>A | CA368224098 | COL1A2 | c.2528C>A (p.Ala843Asp) n.611C>A n.925C>A c.2522C>A (p.Ala841Asp) | |
7 | g.94423081C>G | CA368224099 | COL1A2 | c.2528C>G (p.Ala843Gly) n.611C>G n.925C>G c.2522C>G (p.Ala841Gly) |