Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50189419_50189428delinsGCCAGGGGGACA2263915658COL1A1c.2778_2787delinsTCCCCCTGGC (p.Gly926=)
c.2667+251_2667+260delinsTCCCCCTGGC (n.2667+251_2667+260delinsTCCCCCTGGC)
c.1860_1869delinsTCCCCCTGGC (p.Gly620=)
c.2580_2589delinsTCCCCCTGGC (p.Gly860=)
17g.50189432_50189440dupCA658656705COL1A1c.2778_2786dup (p.Gly929_Pro930insProProGly)
c.2667+251_2667+259dup (n.2667+251_2667+259dup)
c.1860_1868dup (p.Gly623_Pro624insProProGly)
c.2580_2588dup (p.Gly863_Pro864insProProGly)
 ClinVar dbSNP
17g.50189432_50189440delCA915950604COL1A1c.2778_2786del (p.Pro927_Gly929del)
c.2667+251_2667+259del (n.2667+251_2667+259del)
c.1860_1868del (p.Pro621_Gly623del)
c.2580_2588del (p.Pro861_Gly863del)
 ClinVar dbSNP
17g.50189428A>CCA500992092COL1A1c.2778T>G (p.Gly926=)
c.2667+251T>G (n.2667+251T>G)
c.1860T>G (p.Gly620=)
c.2580T>G (p.Gly860=)
 gnomAD v4
17g.50189428A>GCA500992094COL1A1c.2778T>C (p.Gly926=)
c.2667+251T>C (n.2667+251T>C)
c.1860T>C (p.Gly620=)
c.2580T>C (p.Gly860=)
 dbSNP
17g.50189428A>TCA500992095COL1A1c.2778T>A (p.Gly926=)
c.2667+251T>A (n.2667+251T>A)
c.1860T>A (p.Gly620=)
c.2580T>A (p.Gly860=)
17g.50189429C>ACA400205627COL1A1c.2777G>T (p.Gly926Val)
c.2667+250G>T (n.2667+250G>T)
c.1859G>T (p.Gly620Val)
c.2579G>T (p.Gly860Val)
17g.50189429C>GCA400205629COL1A1c.2777G>C (p.Gly926Ala)
c.2667+250G>C (n.2667+250G>C)
c.1859G>C (p.Gly620Ala)
c.2579G>C (p.Gly860Ala)
17g.50189429C>TCA400205631COL1A1c.2777G>A (p.Gly926Asp)
c.2667+250G>A (n.2667+250G>A)
c.1859G>A (p.Gly620Asp)
c.2579G>A (p.Gly860Asp)
17g.50189430C>ACA257836COL1A1c.2776G>T (p.Gly926Cys)
c.2667+249G>T (n.2667+249G>T)
c.1858G>T (p.Gly620Cys)
c.2578G>T (p.Gly860Cys)
 ClinVar dbSNP
17g.50189430C=CA2263915666COL1A1c.2776G= (p.Gly926=)
c.2667+249G= (n.2667+249G=)
c.1858G= (p.Gly620=)
c.2578G= (p.Gly860=)
17g.50189430C>GCA400205635COL1A1c.2776G>C (p.Gly926Arg)
c.2667+249G>C (n.2667+249G>C)
c.1858G>C (p.Gly620Arg)
c.2578G>C (p.Gly860Arg)
17g.50189430C>TCA400205633COL1A1c.2776G>A (p.Gly926Ser)
c.2667+249G>A (n.2667+249G>A)
c.1858G>A (p.Gly620Ser)
c.2578G>A (p.Gly860Ser)
17g.50189430_50189431delinsCACA2263915665COL1A1c.2775_2776delinsTG (p.Pro925=)
c.2667+248_2667+249delinsTG (n.2667+248_2667+249delinsTG)
c.1857_1858delinsTG (p.Pro619=)
c.2577_2578delinsTG (p.Pro859=)
17g.50189431delCA10581579COL1A1c.2775del (p.Gly926ValfsTer?)
c.2667+248del (n.2667+248del)
c.1857del (p.Gly620ValfsTer?)
c.2577del (p.Gly860ValfsTer?)
 ClinVar dbSNP
17g.50189431A>CCA500992103COL1A1c.2775T>G (p.Pro925=)
c.2667+248T>G (n.2667+248T>G)
c.1857T>G (p.Pro619=)
c.2577T>G (p.Pro859=)
17g.50189431A>GCA500992101COL1A1c.2775T>C (p.Pro925=)
c.2667+248T>C (n.2667+248T>C)
c.1857T>C (p.Pro619=)
c.2577T>C (p.Pro859=)
17g.50189431A>TCA500992099COL1A1c.2775T>A (p.Pro925=)
c.2667+248T>A (n.2667+248T>A)
c.1857T>A (p.Pro619=)
c.2577T>A (p.Pro859=)
17g.50189431_50189432delinsAGCA2263915667COL1A1c.2774_2775delinsCT (p.Pro925=)
c.2667+247_2667+248delinsCT (n.2667+247_2667+248delinsCT)
c.1856_1857delinsCT (p.Pro619=)
c.2576_2577delinsCT (p.Pro859=)
17g.50189432G>ACA8644684COL1A1c.2774C>T (p.Pro925Leu)
c.2667+247C>T (n.2667+247C>T)
c.1856C>T (p.Pro619Leu)
c.2576C>T (p.Pro859Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.50189432G>CCA400205637COL1A1c.2774C>G (p.Pro925Arg)
c.2667+247C>G (n.2667+247C>G)
c.1856C>G (p.Pro619Arg)
c.2576C>G (p.Pro859Arg)
17g.50189432G=CA2263915668COL1A1c.2774C= (p.Pro925=)
c.2667+247C= (n.2667+247C=)
c.1856C= (p.Pro619=)
c.2576C= (p.Pro859=)
17g.50189432G>TCA400205638COL1A1c.2774C>A (p.Pro925His)
c.2667+247C>A (n.2667+247C>A)
c.1856C>A (p.Pro619His)
c.2576C>A (p.Pro859His)
17g.50189436delCA1139665696COL1A1c.2774del (p.Pro925LeufsTer?)
c.2667+247del (n.2667+247del)
c.1856del (p.Pro619LeufsTer?)
c.2576del (p.Pro859LeufsTer?)
 ClinVar dbSNP
17g.50189433G>ACA400205639COL1A1c.2773C>T (p.Pro925Ser)
c.2667+246C>T (n.2667+246C>T)
c.1855C>T (p.Pro619Ser)
c.2575C>T (p.Pro859Ser)
 ClinVar dbSNP COSMIC
17g.50189433G>CCA8644685COL1A1c.2773C>G (p.Pro925Ala)
c.2667+246C>G (n.2667+246C>G)
c.1855C>G (p.Pro619Ala)
c.2575C>G (p.Pro859Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189433G=CA2263915669COL1A1c.2773C= (p.Pro925=)
c.2667+246C= (n.2667+246C=)
c.1855C= (p.Pro619=)
c.2575C= (p.Pro859=)
17g.50189433G>TCA400205640COL1A1c.2773C>A (p.Pro925Thr)
c.2667+246C>A (n.2667+246C>A)
c.1855C>A (p.Pro619Thr)
c.2575C>A (p.Pro859Thr)
17g.50189434G>ACA8644686COL1A1c.2772C>T (p.Pro924=)
c.2667+245C>T (n.2667+245C>T)
c.1854C>T (p.Pro618=)
c.2574C>T (p.Pro858=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189434G>CCA500992108COL1A1c.2772C>G (p.Pro924=)
c.2667+245C>G (n.2667+245C>G)
c.1854C>G (p.Pro618=)
c.2574C>G (p.Pro858=)
17g.50189434G=CA2263915670COL1A1c.2772C= (p.Pro924=)
c.2667+245C= (n.2667+245C=)
c.1854C= (p.Pro618=)
c.2574C= (p.Pro858=)
17g.50189434G>TCA500992109COL1A1c.2772C>A (p.Pro924=)
c.2667+245C>A (n.2667+245C>A)
c.1854C>A (p.Pro618=)
c.2574C>A (p.Pro858=)
17g.50189435G>ACA400205641COL1A1c.2771C>T (p.Pro924Leu)
c.2667+244C>T (n.2667+244C>T)
c.1853C>T (p.Pro618Leu)
c.2573C>T (p.Pro858Leu)
 dbSNP gnomAD v4 COSMIC
17g.50189435G>CCA400205642COL1A1c.2771C>G (p.Pro924Arg)
c.2667+244C>G (n.2667+244C>G)
c.1853C>G (p.Pro618Arg)
c.2573C>G (p.Pro858Arg)
 dbSNP gnomAD v4
17g.50189435G=CA2263915671COL1A1c.2771C= (p.Pro924=)
c.2667+244C= (n.2667+244C=)
c.1853C= (p.Pro618=)
c.2573C= (p.Pro858=)
17g.50189435G>TCA400205643COL1A1c.2771C>A (p.Pro924His)
c.2667+244C>A (n.2667+244C>A)
c.1853C>A (p.Pro618His)
c.2573C>A (p.Pro858His)
17g.50189436G>ACA8644687COL1A1c.2770C>T (p.Pro924Ser)
c.2667+243C>T (n.2667+243C>T)
c.1852C>T (p.Pro618Ser)
c.2572C>T (p.Pro858Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189436G>CCA400205644COL1A1c.2770C>G (p.Pro924Ala)
c.2667+243C>G (n.2667+243C>G)
c.1852C>G (p.Pro618Ala)
c.2572C>G (p.Pro858Ala)
17g.50189436G=CA2263915672COL1A1c.2770C= (p.Pro924=)
c.2667+243C= (n.2667+243C=)
c.1852C= (p.Pro618=)
c.2572C= (p.Pro858=)
17g.50189436G>TCA400205645COL1A1c.2770C>A (p.Pro924Thr)
c.2667+243C>A (n.2667+243C>A)
c.1852C>A (p.Pro618Thr)
c.2572C>A (p.Pro858Thr)
17g.50189437A>CCA500992115COL1A1c.2769T>G (p.Gly923=)
c.2667+242T>G (n.2667+242T>G)
c.1851T>G (p.Gly617=)
c.2571T>G (p.Gly857=)
17g.50189437A>GCA500992113COL1A1c.2769T>C (p.Gly923=)
c.2667+242T>C (n.2667+242T>C)
c.1851T>C (p.Gly617=)
c.2571T>C (p.Gly857=)
 dbSNP
17g.50189437A>TCA500992114COL1A1c.2769T>A (p.Gly923=)
c.2667+242T>A (n.2667+242T>A)
c.1851T>A (p.Gly617=)
c.2571T>A (p.Gly857=)
17g.50189439_50189442delCA2638709959COL1A1c.2766_2769del (p.Gly923ProfsTer?)
c.2667+239_2667+242del (n.2667+239_2667+242del)
c.1848_1851del (p.Gly617ProfsTer?)
c.2568_2571del (p.Gly857ProfsTer?)
 gnomAD v4
17g.50189438C>ACA400205648COL1A1c.2768G>T (p.Gly923Val)
c.2667+241G>T (n.2667+241G>T)
c.1850G>T (p.Gly617Val)
c.2570G>T (p.Gly857Val)
17g.50189438C>GCA400205647COL1A1c.2768G>C (p.Gly923Ala)
c.2667+241G>C (n.2667+241G>C)
c.1850G>C (p.Gly617Ala)
c.2570G>C (p.Gly857Ala)
17g.50189438C>TCA400205646COL1A1c.2768G>A (p.Gly923Asp)
c.2667+241G>A (n.2667+241G>A)
c.1850G>A (p.Gly617Asp)
c.2570G>A (p.Gly857Asp)
 COSMIC
17g.50189439C>ACA400205649COL1A1c.2767G>T (p.Gly923Cys)
c.2667+240G>T (n.2667+240G>T)
c.1849G>T (p.Gly617Cys)
c.2569G>T (p.Gly857Cys)
17g.50189439C>GCA400205650COL1A1c.2767G>C (p.Gly923Arg)
c.2667+240G>C (n.2667+240G>C)
c.1849G>C (p.Gly617Arg)
c.2569G>C (p.Gly857Arg)
17g.50189439C>TCA400205651COL1A1c.2767G>A (p.Gly923Ser)
c.2667+240G>A (n.2667+240G>A)
c.1849G>A (p.Gly617Ser)
c.2569G>A (p.Gly857Ser)
17g.50189440A=CA2263915673COL1A1c.2766T= (p.Val922=)
c.2667+239T= (n.2667+239T=)
c.1848T= (p.Val616=)
c.2568T= (p.Val856=)
17g.50189440A>CCA500992118COL1A1c.2766T>G (p.Val922=)
c.2667+239T>G (n.2667+239T>G)
c.1848T>G (p.Val616=)
c.2568T>G (p.Val856=)
17g.50189440A>GCA500992119COL1A1c.2766T>C (p.Val922=)
c.2667+239T>C (n.2667+239T>C)
c.1848T>C (p.Val616=)
c.2568T>C (p.Val856=)
 dbSNP gnomAD v3 gnomAD v4
17g.50189440A>TCA500992120COL1A1c.2766T>A (p.Val922=)
c.2667+239T>A (n.2667+239T>A)
c.1848T>A (p.Val616=)
c.2568T>A (p.Val856=)
17g.50189440_50189441insCGGTCTCCCTAGACA2809756723COL1A1c.2766_2767insCTAGGGAGACCGT (p.Gly923LeufsTer22)
c.2667+239_2667+240insCTAGGGAGACCGT (n.2667+239_2667+240insCTAGGGAGACCGT)
c.1848_1849insCTAGGGAGACCGT (p.Gly617LeufsTer22)
c.2568_2569insCTAGGGAGACCGT (p.Gly857LeufsTer22)
17g.50189441A=CA2263915674COL1A1c.2765T= (p.Val922=)
c.2667+238T= (n.2667+238T=)
c.1847T= (p.Val616=)
c.2567T= (p.Val856=)
17g.50189441A>CCA400205652COL1A1c.2765T>G (p.Val922Gly)
c.2667+238T>G (n.2667+238T>G)
c.1847T>G (p.Val616Gly)
c.2567T>G (p.Val856Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50189441A>GCA400205653COL1A1c.2765T>C (p.Val922Ala)
c.2667+238T>C (n.2667+238T>C)
c.1847T>C (p.Val616Ala)
c.2567T>C (p.Val856Ala)
 dbSNP
17g.50189441A>TCA400205654COL1A1c.2765T>A (p.Val922Asp)
c.2667+238T>A (n.2667+238T>A)
c.1847T>A (p.Val616Asp)
c.2567T>A (p.Val856Asp)
17g.50189442C>ACA400205656COL1A1c.2764G>T (p.Val922Phe)
c.2667+237G>T (n.2667+237G>T)
c.1846G>T (p.Val616Phe)
c.2566G>T (p.Val856Phe)
17g.50189442C>GCA400205657COL1A1c.2764G>C (p.Val922Leu)
c.2667+237G>C (n.2667+237G>C)
c.1846G>C (p.Val616Leu)
c.2566G>C (p.Val856Leu)
17g.50189442C>TCA400205659COL1A1c.2764G>A (p.Val922Ile)
c.2667+237G>A (n.2667+237G>A)
c.1846G>A (p.Val616Ile)
c.2566G>A (p.Val856Ile)
17g.50189443T>ACA400205661COL1A1c.2763A>T (p.Glu921Asp)
c.2667+236A>T (n.2667+236A>T)
c.1845A>T (p.Glu615Asp)
c.2565A>T (p.Glu855Asp)
17g.50189443T>CCA500992125COL1A1c.2763A>G (p.Glu921=)
c.2667+236A>G (n.2667+236A>G)
c.1845A>G (p.Glu615=)
c.2565A>G (p.Glu855=)
17g.50189443T>GCA400205663COL1A1c.2763A>C (p.Glu921Asp)
c.2667+236A>C (n.2667+236A>C)
c.1845A>C (p.Glu615Asp)
c.2565A>C (p.Glu855Asp)
17g.50189444T>ACA8644689COL1A1c.2762A>T (p.Glu921Val)
c.2667+235A>T (n.2667+235A>T)
c.1844A>T (p.Glu615Val)
c.2564A>T (p.Glu855Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50189444T>CCA8644688COL1A1c.2762A>G (p.Glu921Gly)
c.2667+235A>G (n.2667+235A>G)
c.1844A>G (p.Glu615Gly)
c.2564A>G (p.Glu855Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50189444T>GCA400205668COL1A1c.2762A>C (p.Glu921Ala)
c.2667+235A>C (n.2667+235A>C)
c.1844A>C (p.Glu615Ala)
c.2564A>C (p.Glu855Ala)
17g.50189444T=CA2263915675COL1A1c.2762A= (p.Glu921=)
c.2667+235A= (n.2667+235A=)
c.1844A= (p.Glu615=)
c.2564A= (p.Glu855=)
17g.50189445C>ACA400205671COL1A1c.2761G>T (p.Glu921Ter)
c.2667+234G>T (n.2667+234G>T)
c.1843G>T (p.Glu615Ter)
c.2563G>T (p.Glu855Ter)
17g.50189445C>GCA400205673COL1A1c.2761G>C (p.Glu921Gln)
c.2667+234G>C (n.2667+234G>C)
c.1843G>C (p.Glu615Gln)
c.2563G>C (p.Glu855Gln)
17g.50189445C>TCA400205670COL1A1c.2761G>A (p.Glu921Lys)
c.2667+234G>A (n.2667+234G>A)
c.1843G>A (p.Glu615Lys)
c.2563G>A (p.Glu855Lys)
17g.50189446A>CCA500992129COL1A1c.2760T>G (p.Gly920=)
c.2667+233T>G (n.2667+233T>G)
c.1842T>G (p.Gly614=)
c.2562T>G (p.Gly854=)
17g.50189446A>GCA500992130COL1A1c.2760T>C (p.Gly920=)
c.2667+233T>C (n.2667+233T>C)
c.1842T>C (p.Gly614=)
c.2562T>C (p.Gly854=)
17g.50189446A>TCA500992131COL1A1c.2760T>A (p.Gly920=)
c.2667+233T>A (n.2667+233T>A)
c.1842T>A (p.Gly614=)
c.2562T>A (p.Gly854=)
 ClinVar dbSNP
17g.50189447C>ACA400205676COL1A1c.2759G>T (p.Gly920Val)
c.2667+232G>T (n.2667+232G>T)
c.1841G>T (p.Gly614Val)
c.2561G>T (p.Gly854Val)
17g.50189447C>GCA400205677COL1A1c.2759G>C (p.Gly920Ala)
c.2667+232G>C (n.2667+232G>C)
c.1841G>C (p.Gly614Ala)
c.2561G>C (p.Gly854Ala)
17g.50189447C>TCA400205678COL1A1c.2759G>A (p.Gly920Asp)
c.2667+232G>A (n.2667+232G>A)
c.1841G>A (p.Gly614Asp)
c.2561G>A (p.Gly854Asp)
17g.50189448C>ACA400205681COL1A1c.2758G>T (p.Gly920Cys)
c.2667+231G>T (n.2667+231G>T)
c.1840G>T (p.Gly614Cys)
c.2560G>T (p.Gly854Cys)
17g.50189448C>GCA400205683COL1A1c.2758G>C (p.Gly920Arg)
c.2667+231G>C (n.2667+231G>C)
c.1840G>C (p.Gly614Arg)
c.2560G>C (p.Gly854Arg)
17g.50189448C>TCA400205684COL1A1c.2758G>A (p.Gly920Ser)
c.2667+231G>A (n.2667+231G>A)
c.1840G>A (p.Gly614Ser)
c.2560G>A (p.Gly854Ser)
 ClinVar dbSNP
17g.50189449A>CCA500992132COL1A1c.2757T>G (p.Pro919=)
c.2667+230T>G (n.2667+230T>G)
c.1839T>G (p.Pro613=)
c.2559T>G (p.Pro853=)
17g.50189449A>GCA500992133COL1A1c.2757T>C (p.Pro919=)
c.2667+230T>C (n.2667+230T>C)
c.1839T>C (p.Pro613=)
c.2559T>C (p.Pro853=)
 gnomAD v4
17g.50189449A>TCA500992135COL1A1c.2757T>A (p.Pro919=)
c.2667+230T>A (n.2667+230T>A)
c.1839T>A (p.Pro613=)
c.2559T>A (p.Pro853=)
17g.50189450G>ACA400205688COL1A1c.2756C>T (p.Pro919Leu)
c.2667+229C>T (n.2667+229C>T)
c.1838C>T (p.Pro613Leu)
c.2558C>T (p.Pro853Leu)
17g.50189450G>CCA400205689COL1A1c.2756C>G (p.Pro919Arg)
c.2667+229C>G (n.2667+229C>G)
c.1838C>G (p.Pro613Arg)
c.2558C>G (p.Pro853Arg)
17g.50189450G>TCA400205691COL1A1c.2756C>A (p.Pro919His)
c.2667+229C>A (n.2667+229C>A)
c.1838C>A (p.Pro613His)
c.2558C>A (p.Pro853His)
17g.50189451delCA2499224721COL1A1c.2756del (p.Pro919LeufsTer?)
c.2667+229del (n.2667+229del)
c.1838del (p.Pro613LeufsTer?)
c.2558del (p.Pro853LeufsTer?)
 ClinVar dbSNP
17g.50189451G>ACA400205693COL1A1c.2755C>T (p.Pro919Ser)
c.2667+228C>T (n.2667+228C>T)
c.1837C>T (p.Pro613Ser)
c.2557C>T (p.Pro853Ser)
17g.50189451G>CCA400205695COL1A1c.2755C>G (p.Pro919Ala)
c.2667+228C>G (n.2667+228C>G)
c.1837C>G (p.Pro613Ala)
c.2557C>G (p.Pro853Ala)
17g.50189451G>TCA400205697COL1A1c.2755C>A (p.Pro919Thr)
c.2667+228C>A (n.2667+228C>A)
c.1837C>A (p.Pro613Thr)
c.2557C>A (p.Pro853Thr)
17g.50189452A>CCA500992138COL1A1c.2754T>G (p.Arg918=)
c.2667+227T>G (n.2667+227T>G)
c.1836T>G (p.Arg612=)
c.2556T>G (p.Arg852=)
17g.50189452A>GCA500992139COL1A1c.2754T>C (p.Arg918=)
c.2667+227T>C (n.2667+227T>C)
c.1836T>C (p.Arg612=)
c.2556T>C (p.Arg852=)
 dbSNP
17g.50189452A>TCA500992140COL1A1c.2754T>A (p.Arg918=)
c.2667+227T>A (n.2667+227T>A)
c.1836T>A (p.Arg612=)
c.2556T>A (p.Arg852=)
17g.50189452_50189453delCA645569676COL1A1c.2753_2754del (p.Arg918ProfsTer3)
c.2667+226_2667+227del (n.2667+226_2667+227del)
c.1835_1836del (p.Arg612ProfsTer3)
c.2555_2556del (p.Arg852ProfsTer3)
 COSMIC
17g.50189453C>ACA291543193COL1A1c.2753G>T (p.Arg918Leu)
c.2667+226G>T (n.2667+226G>T)
c.1835G>T (p.Arg612Leu)
c.2555G>T (p.Arg852Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.50189453C=CA2263915676COL1A1c.2753G= (p.Arg918=)
c.2667+226G= (n.2667+226G=)
c.1835G= (p.Arg612=)
c.2555G= (p.Arg852=)
17g.50189453C>GCA400205699COL1A1c.2753G>C (p.Arg918Pro)
c.2667+226G>C (n.2667+226G>C)
c.1835G>C (p.Arg612Pro)
c.2555G>C (p.Arg852Pro)
17g.50189453C>TCA8644690COL1A1c.2753G>A (p.Arg918His)
c.2667+226G>A (n.2667+226G>A)
c.1835G>A (p.Arg612His)
c.2555G>A (p.Arg852His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189454G>ACA400205704COL1A1c.2752C>T (p.Arg918Cys)
c.2667+225C>T (n.2667+225C>T)
c.1834C>T (p.Arg612Cys)
c.2554C>T (p.Arg852Cys)
 dbSNP gnomAD v4
17g.50189454G>CCA400205706COL1A1c.2752C>G (p.Arg918Gly)
c.2667+225C>G (n.2667+225C>G)
c.1834C>G (p.Arg612Gly)
c.2554C>G (p.Arg852Gly)
17g.50189454G=CA2263915677COL1A1c.2752C= (p.Arg918=)
c.2667+225C= (n.2667+225C=)
c.1834C= (p.Arg612=)
c.2554C= (p.Arg852=)
17g.50189454G>TCA8644691COL1A1c.2752C>A (p.Arg918Ser)
c.2667+225C>A (n.2667+225C>A)
c.1834C>A (p.Arg612Ser)
c.2554C>A (p.Arg852Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189455T>ACA500992144COL1A1c.2751A>T (p.Gly917=)
c.2667+224A>T (n.2667+224A>T)
c.1833A>T (p.Gly611=)
c.2553A>T (p.Gly851=)
17g.50189455T>CCA500992145COL1A1c.2751A>G (p.Gly917=)
c.2667+224A>G (n.2667+224A>G)
c.1833A>G (p.Gly611=)
c.2553A>G (p.Gly851=)
 dbSNP
17g.50189455T>GCA500992146COL1A1c.2751A>C (p.Gly917=)
c.2667+224A>C (n.2667+224A>C)
c.1833A>C (p.Gly611=)
c.2553A>C (p.Gly851=)
17g.50189456C>ACA400205709COL1A1c.2750G>T (p.Gly917Val)
c.2667+223G>T (n.2667+223G>T)
c.1832G>T (p.Gly611Val)
c.2552G>T (p.Gly851Val)
17g.50189456C=CA2263915678COL1A1c.2750G= (p.Gly917=)
c.2667+223G= (n.2667+223G=)
c.1832G= (p.Gly611=)
c.2552G= (p.Gly851=)
17g.50189456C>GCA400205711COL1A1c.2750G>C (p.Gly917Ala)
c.2667+223G>C (n.2667+223G>C)
c.1832G>C (p.Gly611Ala)
c.2552G>C (p.Gly851Ala)
17g.50189456C>TCA291543194COL1A1c.2750G>A (p.Gly917Glu)
c.2667+223G>A (n.2667+223G>A)
c.1832G>A (p.Gly611Glu)
c.2552G>A (p.Gly851Glu)
 dbSNP
17g.50189457delCA2695226489COL1A1c.2750del (p.Gly917AspfsTer?)
c.2667+223del (n.2667+223del)
c.1832del (p.Gly611AspfsTer?)
c.2552del (p.Gly851AspfsTer?)
17g.50189457C>ACA400205715COL1A1c.2749G>T (p.Gly917Ter)
c.2667+222G>T (n.2667+222G>T)
c.1831G>T (p.Gly611Ter)
c.2551G>T (p.Gly851Ter)
17g.50189457C>GCA400205717COL1A1c.2749G>C (p.Gly917Arg)
c.2667+222G>C (n.2667+222G>C)
c.1831G>C (p.Gly611Arg)
c.2551G>C (p.Gly851Arg)
17g.50189457C>TCA400205718COL1A1c.2749G>A (p.Gly917Arg)
c.2667+222G>A (n.2667+222G>A)
c.1831G>A (p.Gly611Arg)
c.2551G>A (p.Gly851Arg)
17g.50189458A>CCA500992147COL1A1c.2748T>G (p.Ala916=)
c.2667+221T>G (n.2667+221T>G)
c.1830T>G (p.Ala610=)
c.2550T>G (p.Ala850=)
17g.50189458A>GCA500992148COL1A1c.2748T>C (p.Ala916=)
c.2667+221T>C (n.2667+221T>C)
c.1830T>C (p.Ala610=)
c.2550T>C (p.Ala850=)
 ClinVar gnomAD v4
17g.50189458A>TCA500992149COL1A1c.2748T>A (p.Ala916=)
c.2667+221T>A (n.2667+221T>A)
c.1830T>A (p.Ala610=)
c.2550T>A (p.Ala850=)
17g.50189459G>ACA400205721COL1A1c.2747C>T (p.Ala916Val)
c.2667+220C>T (n.2667+220C>T)
c.1829C>T (p.Ala610Val)
c.2549C>T (p.Ala850Val)
17g.50189459G>CCA400205723COL1A1c.2747C>G (p.Ala916Gly)
c.2667+220C>G (n.2667+220C>G)
c.1829C>G (p.Ala610Gly)
c.2549C>G (p.Ala850Gly)
17g.50189459G>TCA400205725COL1A1c.2747C>A (p.Ala916Asp)
c.2667+220C>A (n.2667+220C>A)
c.1829C>A (p.Ala610Asp)
c.2549C>A (p.Ala850Asp)
17g.50189460C>ACA400205729COL1A1c.2746G>T (p.Ala916Ser)
c.2667+219G>T (n.2667+219G>T)
c.1828G>T (p.Ala610Ser)
c.2548G>T (p.Ala850Ser)
17g.50189460C>GCA400205730COL1A1c.2746G>C (p.Ala916Pro)
c.2667+219G>C (n.2667+219G>C)
c.1828G>C (p.Ala610Pro)
c.2548G>C (p.Ala850Pro)
 ClinVar
17g.50189460C>TCA400205727COL1A1c.2746G>A (p.Ala916Thr)
c.2667+219G>A (n.2667+219G>A)
c.1828G>A (p.Ala610Thr)
c.2548G>A (p.Ala850Thr)
17g.50189461A>CCA500992150COL1A1c.2745T>G (p.Pro915=)
c.2667+218T>G (n.2667+218T>G)
c.1827T>G (p.Pro609=)
c.2547T>G (p.Pro849=)
17g.50189461A>GCA500992151COL1A1c.2745T>C (p.Pro915=)
c.2667+218T>C (n.2667+218T>C)
c.1827T>C (p.Pro609=)
c.2547T>C (p.Pro849=)
17g.50189461A>TCA500992152COL1A1c.2745T>A (p.Pro915=)
c.2667+218T>A (n.2667+218T>A)
c.1827T>A (p.Pro609=)
c.2547T>A (p.Pro849=)
17g.50189462G>ACA400205731COL1A1c.2744C>T (p.Pro915Leu)
c.2667+217C>T (n.2667+217C>T)
c.1826C>T (p.Pro609Leu)
c.2546C>T (p.Pro849Leu)
 dbSNP gnomAD v4 COSMIC
17g.50189462G>CCA400205733COL1A1c.2744C>G (p.Pro915Arg)
c.2667+217C>G (n.2667+217C>G)
c.1826C>G (p.Pro609Arg)
c.2546C>G (p.Pro849Arg)
17g.50189462G=CA2263915679COL1A1c.2744C= (p.Pro915=)
c.2667+217C= (n.2667+217C=)
c.1826C= (p.Pro609=)
c.2546C= (p.Pro849=)
17g.50189462G>TCA400205732COL1A1c.2744C>A (p.Pro915His)
c.2667+217C>A (n.2667+217C>A)
c.1826C>A (p.Pro609His)
c.2546C>A (p.Pro849His)
17g.50189463G>ACA8644692COL1A1c.2743C>T (p.Pro915Ser)
c.2667+216C>T (n.2667+216C>T)
c.1825C>T (p.Pro609Ser)
c.2545C>T (p.Pro849Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189463G>CCA400205738COL1A1c.2743C>G (p.Pro915Ala)
c.2667+216C>G (n.2667+216C>G)
c.1825C>G (p.Pro609Ala)
c.2545C>G (p.Pro849Ala)
17g.50189463G=CA2263915680COL1A1c.2743C= (p.Pro915=)
c.2667+216C= (n.2667+216C=)
c.1825C= (p.Pro609=)
c.2545C= (p.Pro849=)
17g.50189463G>TCA400205737COL1A1c.2743C>A (p.Pro915Thr)
c.2667+216C>A (n.2667+216C>A)
c.1825C>A (p.Pro609Thr)
c.2545C>A (p.Pro849Thr)
17g.50189464G>ACA500992153COL1A1c.2742C>T (p.Gly914=)
c.2667+215C>T (n.2667+215C>T)
c.1824C>T (p.Gly608=)
c.2544C>T (p.Gly848=)
 dbSNP gnomAD v4
17g.50189464G>CCA500992155COL1A1c.2742C>G (p.Gly914=)
c.2667+215C>G (n.2667+215C>G)
c.1824C>G (p.Gly608=)
c.2544C>G (p.Gly848=)
17g.50189464G>TCA500992154COL1A1c.2742C>A (p.Gly914=)
c.2667+215C>A (n.2667+215C>A)
c.1824C>A (p.Gly608=)
c.2544C>A (p.Gly848=)
 gnomAD v4
17g.50189465C>ACA400205742COL1A1c.2741G>T (p.Gly914Val)
c.2667+214G>T (n.2667+214G>T)
c.1823G>T (p.Gly608Val)
c.2543G>T (p.Gly848Val)
17g.50189465C>GCA400205746COL1A1c.2741G>C (p.Gly914Ala)
c.2667+214G>C (n.2667+214G>C)
c.1823G>C (p.Gly608Ala)
c.2543G>C (p.Gly848Ala)
17g.50189465C>TCA400205743COL1A1c.2741G>A (p.Gly914Asp)
c.2667+214G>A (n.2667+214G>A)
c.1823G>A (p.Gly608Asp)
c.2543G>A (p.Gly848Asp)
17g.50189466C>ACA400205748COL1A1c.2740G>T (p.Gly914Cys)
c.2667+213G>T (n.2667+213G>T)
c.1822G>T (p.Gly608Cys)
c.2542G>T (p.Gly848Cys)
17g.50189466C>GCA400205750COL1A1c.2740G>C (p.Gly914Arg)
c.2667+213G>C (n.2667+213G>C)
c.1822G>C (p.Gly608Arg)
c.2542G>C (p.Gly848Arg)
17g.50189466C>TCA400205752COL1A1c.2740G>A (p.Gly914Ser)
c.2667+213G>A (n.2667+213G>A)
c.1822G>A (p.Gly608Ser)
c.2542G>A (p.Gly848Ser)
17g.50189466_50189467insTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCCA2573054482COL1A1c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914AlafsTer?)
c.2667+213_2667+214insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (n.2667+213_2667+214insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG)
c.1822_1823insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly608AlafsTer?)
c.2542_2543insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly848AlafsTer?)
 ClinVar dbSNP
17g.50189467A>CCA500992156COL1A1c.2739T>G (p.Thr913=)
c.2667+212T>G (n.2667+212T>G)
c.1821T>G (p.Thr607=)
c.2541T>G (p.Thr847=)
 gnomAD v4
17g.50189467A>GCA500992157COL1A1c.2739T>C (p.Thr913=)
c.2667+212T>C (n.2667+212T>C)
c.1821T>C (p.Thr607=)
c.2541T>C (p.Thr847=)
 dbSNP
17g.50189467A>TCA500992158COL1A1c.2739T>A (p.Thr913=)
c.2667+212T>A (n.2667+212T>A)
c.1821T>A (p.Thr607=)
c.2541T>A (p.Thr847=)
17g.50189467delinsTGCA2739291008COL1A1c.2739delinsCA (p.Gly914ArgfsTer8)
c.2667+212delinsCA (n.2667+212delinsCA)
c.1821delinsCA (p.Gly608ArgfsTer8)
c.2541delinsCA (p.Gly848ArgfsTer8)
17g.50189468G>ACA400205755COL1A1c.2738C>T (p.Thr913Ile)
c.2667+211C>T (n.2667+211C>T)
c.1820C>T (p.Thr607Ile)
c.2540C>T (p.Thr847Ile)
 gnomAD v3 gnomAD v4
17g.50189468G>CCA400205757COL1A1c.2738C>G (p.Thr913Ser)
c.2667+211C>G (n.2667+211C>G)
c.1820C>G (p.Thr607Ser)
c.2540C>G (p.Thr847Ser)
17g.50189468G>TCA400205759COL1A1c.2738C>A (p.Thr913Asn)
c.2667+211C>A (n.2667+211C>A)
c.1820C>A (p.Thr607Asn)
c.2540C>A (p.Thr847Asn)
17g.50189469T>ACA400205762COL1A1c.2737A>T (p.Thr913Ser)
c.2667+210A>T (n.2667+210A>T)
c.1819A>T (p.Thr607Ser)
c.2539A>T (p.Thr847Ser)
17g.50189469T>CCA8644693COL1A1c.2737A>G (p.Thr913Ala)
c.2667+210A>G (n.2667+210A>G)
c.1819A>G (p.Thr607Ala)
c.2539A>G (p.Thr847Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189469T>GCA400205765COL1A1c.2737A>C (p.Thr913Pro)
c.2667+210A>C (n.2667+210A>C)
c.1819A>C (p.Thr607Pro)
c.2539A>C (p.Thr847Pro)
17g.50189469T=CA2263915681COL1A1c.2737A= (p.Thr913=)
c.2667+210A= (n.2667+210A=)
c.1819A= (p.Thr607=)
c.2539A= (p.Thr847=)
17g.50189470C>ACA400205767COL1A1c.2736G>T (p.Glu912Asp)
c.2667+209G>T (n.2667+209G>T)
c.1818G>T (p.Glu606Asp)
c.2538G>T (p.Glu846Asp)
 dbSNP
17g.50189470C=CA2263915682COL1A1c.2736G= (p.Glu912=)
c.2667+209G= (n.2667+209G=)
c.1818G= (p.Glu606=)
c.2538G= (p.Glu846=)
17g.50189470C>GCA400205768COL1A1c.2736G>C (p.Glu912Asp)
c.2667+209G>C (n.2667+209G>C)
c.1818G>C (p.Glu606Asp)
c.2538G>C (p.Glu846Asp)
17g.50189470C>TCA500992159COL1A1c.2736G>A (p.Glu912=)
c.2667+209G>A (n.2667+209G>A)
c.1818G>A (p.Glu606=)
c.2538G>A (p.Glu846=)
 dbSNP gnomAD v4 COSMIC
17g.50189471T>ACA400205776COL1A1c.2735A>T (p.Glu912Val)
c.2667+208A>T (n.2667+208A>T)
c.1817A>T (p.Glu606Val)
c.2537A>T (p.Glu846Val)
17g.50189471T>CCA400205771COL1A1c.2735A>G (p.Glu912Gly)
c.2667+208A>G (n.2667+208A>G)
c.1817A>G (p.Glu606Gly)
c.2537A>G (p.Glu846Gly)
17g.50189471T>GCA400205773COL1A1c.2735A>C (p.Glu912Ala)
c.2667+208A>C (n.2667+208A>C)
c.1817A>C (p.Glu606Ala)
c.2537A>C (p.Glu846Ala)
17g.50189472C>ACA400205780COL1A1c.2734G>T (p.Glu912Ter)
c.2667+207G>T (n.2667+207G>T)
c.1816G>T (p.Glu606Ter)
c.2536G>T (p.Glu846Ter)
17g.50189472C>GCA400205783COL1A1c.2734G>C (p.Glu912Gln)
c.2667+207G>C (n.2667+207G>C)
c.1816G>C (p.Glu606Gln)
c.2536G>C (p.Glu846Gln)
17g.50189472C>TCA400205784COL1A1c.2734G>A (p.Glu912Lys)
c.2667+207G>A (n.2667+207G>A)
c.1816G>A (p.Glu606Lys)
c.2536G>A (p.Glu846Lys)
17g.50189472_50189481delinsCACCACGGGGCA2263915683COL1A1c.2725_2734delinsCCCCGTGGTG (p.Pro909=)
c.2667+198_2667+207delinsCCCCGTGGTG (n.2667+198_2667+207delinsCCCCGTGGTG)
c.1807_1816delinsCCCCGTGGTG (p.Pro603=)
c.2527_2536delinsCCCCGTGGTG (p.Pro843=)
17g.50189473A>CCA500992160COL1A1c.2733T>G (p.Gly911=)
c.2667+206T>G (n.2667+206T>G)
c.1815T>G (p.Gly605=)
c.2535T>G (p.Gly845=)
17g.50189473A>GCA500992161COL1A1c.2733T>C (p.Gly911=)
c.2667+206T>C (n.2667+206T>C)
c.1815T>C (p.Gly605=)
c.2535T>C (p.Gly845=)
 gnomAD v4
17g.50189473A>TCA500992162COL1A1c.2733T>A (p.Gly911=)
c.2667+206T>A (n.2667+206T>A)
c.1815T>A (p.Gly605=)
c.2535T>A (p.Gly845=)
17g.50189476_50189484delCA919856575COL1A1c.2725_2733del (p.Pro909_Gly911del)
c.2667+198_2667+206del (n.2667+198_2667+206del)
c.1807_1815del (p.Pro603_Gly605del)
c.2527_2535del (p.Pro843_Gly845del)
17g.50189474C>ACA400205789COL1A1c.2732G>T (p.Gly911Val)
c.2667+205G>T (n.2667+205G>T)
c.1814G>T (p.Gly605Val)
c.2534G>T (p.Gly845Val)
17g.50189474C>GCA400205792COL1A1c.2732G>C (p.Gly911Ala)
c.2667+205G>C (n.2667+205G>C)
c.1814G>C (p.Gly605Ala)
c.2534G>C (p.Gly845Ala)
17g.50189474C>TCA400205793COL1A1c.2732G>A (p.Gly911Asp)
c.2667+205G>A (n.2667+205G>A)
c.1814G>A (p.Gly605Asp)
c.2534G>A (p.Gly845Asp)
17g.50189475delCA2695226490COL1A1c.2732del (p.Gly911ValfsTer?)
c.2667+205del (n.2667+205del)
c.1814del (p.Gly605ValfsTer?)
c.2534del (p.Gly845ValfsTer?)
17g.50189475C>ACA400205798COL1A1c.2731G>T (p.Gly911Cys)
c.2667+204G>T (n.2667+204G>T)
c.1813G>T (p.Gly605Cys)
c.2533G>T (p.Gly845Cys)
17g.50189475C>GCA400205800COL1A1c.2731G>C (p.Gly911Arg)
c.2667+204G>C (n.2667+204G>C)
c.1813G>C (p.Gly605Arg)
c.2533G>C (p.Gly845Arg)
17g.50189475C>TCA400205803COL1A1c.2731G>A (p.Gly911Ser)
c.2667+204G>A (n.2667+204G>A)
c.1813G>A (p.Gly605Ser)
c.2533G>A (p.Gly845Ser)
17g.50189476_50189483dupCA2733644055COL1A1c.2724_2731dup (p.Gly911ValfsTer?)
c.2667+197_2667+204dup (n.2667+197_2667+204dup)
c.1806_1813dup (p.Gly605ValfsTer?)
c.2526_2533dup (p.Gly845ValfsTer?)
 dbSNP
17g.50189476A>CCA500992163COL1A1c.2730T>G (p.Arg910=)
c.2667+203T>G (n.2667+203T>G)
c.1812T>G (p.Arg604=)
c.2532T>G (p.Arg844=)
17g.50189476A>GCA500992165COL1A1c.2730T>C (p.Arg910=)
c.2667+203T>C (n.2667+203T>C)
c.1812T>C (p.Arg604=)
c.2532T>C (p.Arg844=)
17g.50189476A>TCA500992164COL1A1c.2730T>A (p.Arg910=)
c.2667+203T>A (n.2667+203T>A)
c.1812T>A (p.Arg604=)
c.2532T>A (p.Arg844=)
17g.50189477C>ACA400205812COL1A1c.2729G>T (p.Arg910Leu)
c.2667+202G>T (n.2667+202G>T)
c.1811G>T (p.Arg604Leu)
c.2531G>T (p.Arg844Leu)
17g.50189477C=CA2263915684COL1A1c.2729G= (p.Arg910=)
c.2667+202G= (n.2667+202G=)
c.1811G= (p.Arg604=)
c.2531G= (p.Arg844=)
17g.50189477C>GCA400205808COL1A1c.2729G>C (p.Arg910Pro)
c.2667+202G>C (n.2667+202G>C)
c.1811G>C (p.Arg604Pro)
c.2531G>C (p.Arg844Pro)
17g.50189477C>TCA16040315COL1A1c.2729G>A (p.Arg910His)
c.2667+202G>A (n.2667+202G>A)
c.1811G>A (p.Arg604His)
c.2531G>A (p.Arg844His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50189478G>ACA291543197COL1A1c.2728C>T (p.Arg910Cys)
c.2667+201C>T (n.2667+201C>T)
c.1810C>T (p.Arg604Cys)
c.2530C>T (p.Arg844Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50189478G>CCA400205819COL1A1c.2728C>G (p.Arg910Gly)
c.2667+201C>G (n.2667+201C>G)
c.1810C>G (p.Arg604Gly)
c.2530C>G (p.Arg844Gly)
17g.50189478G=CA2263915685COL1A1c.2728C= (p.Arg910=)
c.2667+201C= (n.2667+201C=)
c.1810C= (p.Arg604=)
c.2530C= (p.Arg844=)
17g.50189478G>TCA400205823COL1A1c.2728C>A (p.Arg910Ser)
c.2667+201C>A (n.2667+201C>A)
c.1810C>A (p.Arg604Ser)
c.2530C>A (p.Arg844Ser)
17g.50189479G>ACA500992166COL1A1c.2727C>T (p.Pro909=)
c.2667+200C>T (n.2667+200C>T)
c.1809C>T (p.Pro603=)
c.2529C>T (p.Pro843=)
 gnomAD v4
17g.50189479G>CCA500992167COL1A1c.2727C>G (p.Pro909=)
c.2667+200C>G (n.2667+200C>G)
c.1809C>G (p.Pro603=)
c.2529C>G (p.Pro843=)
17g.50189479G>TCA500992168COL1A1c.2727C>A (p.Pro909=)
c.2667+200C>A (n.2667+200C>A)
c.1809C>A (p.Pro603=)
c.2529C>A (p.Pro843=)
17g.50189480G>ACA400205827COL1A1c.2726C>T (p.Pro909Leu)
c.2667+199C>T (n.2667+199C>T)
c.1808C>T (p.Pro603Leu)
c.2528C>T (p.Pro843Leu)
17g.50189480G>CCA400205830COL1A1c.2726C>G (p.Pro909Arg)
c.2667+199C>G (n.2667+199C>G)
c.1808C>G (p.Pro603Arg)
c.2528C>G (p.Pro843Arg)
17g.50189480G>TCA400205831COL1A1c.2726C>A (p.Pro909His)
c.2667+199C>A (n.2667+199C>A)
c.1808C>A (p.Pro603His)
c.2528C>A (p.Pro843His)
 gnomAD v4
17g.50189481G>ACA400205835COL1A1c.2725C>T (p.Pro909Ser)
c.2667+198C>T (n.2667+198C>T)
c.1807C>T (p.Pro603Ser)
c.2527C>T (p.Pro843Ser)
 COSMIC
17g.50189481G>CCA400205836COL1A1c.2725C>G (p.Pro909Ala)
c.2667+198C>G (n.2667+198C>G)
c.1807C>G (p.Pro603Ala)
c.2527C>G (p.Pro843Ala)
17g.50189481G>TCA400205837COL1A1c.2725C>A (p.Pro909Thr)
c.2667+198C>A (n.2667+198C>A)
c.1807C>A (p.Pro603Thr)
c.2527C>A (p.Pro843Thr)
17g.50189482A>CCA500992169COL1A1c.2724T>G (p.Gly908=)
c.2667+197T>G (n.2667+197T>G)
c.1806T>G (p.Gly602=)
c.2526T>G (p.Gly842=)
17g.50189482A>GCA500992170COL1A1c.2724T>C (p.Gly908=)
c.2667+197T>C (n.2667+197T>C)
c.1806T>C (p.Gly602=)
c.2526T>C (p.Gly842=)
17g.50189482A>TCA500992171COL1A1c.2724T>A (p.Gly908=)
c.2667+197T>A (n.2667+197T>A)
c.1806T>A (p.Gly602=)
c.2526T>A (p.Gly842=)
 gnomAD v4
17g.50189483C>ACA400205842COL1A1c.2723G>T (p.Gly908Val)
c.2667+196G>T (n.2667+196G>T)
c.1805G>T (p.Gly602Val)
c.2525G>T (p.Gly842Val)
17g.50189483C>GCA400205843COL1A1c.2723G>C (p.Gly908Ala)
c.2667+196G>C (n.2667+196G>C)
c.1805G>C (p.Gly602Ala)
c.2525G>C (p.Gly842Ala)
17g.50189483C>TCA400205845COL1A1c.2723G>A (p.Gly908Asp)
c.2667+196G>A (n.2667+196G>A)
c.1805G>A (p.Gly602Asp)
c.2525G>A (p.Gly842Asp)
17g.50189484delCA2733676256COL1A1c.2723del (p.Gly908ValfsTer?)
c.2667+196del (n.2667+196del)
c.1805del (p.Gly602ValfsTer?)
c.2525del (p.Gly842ValfsTer?)
 dbSNP
17g.50189484C>ACA400205855COL1A1c.2722G>T (p.Gly908Cys)
c.2667+195G>T (n.2667+195G>T)
c.1804G>T (p.Gly602Cys)
c.2524G>T (p.Gly842Cys)
17g.50189484C>GCA400205850COL1A1c.2722G>C (p.Gly908Arg)
c.2667+195G>C (n.2667+195G>C)
c.1804G>C (p.Gly602Arg)
c.2524G>C (p.Gly842Arg)
17g.50189484C>TCA400205853COL1A1c.2722G>A (p.Gly908Ser)
c.2667+195G>A (n.2667+195G>A)
c.1804G>A (p.Gly602Ser)
c.2524G>A (p.Gly842Ser)
17g.50189485T>ACA400205859COL1A1c.2721A>T (p.Lys907Asn)
c.2667+194A>T (n.2667+194A>T)
c.1803A>T (p.Lys601Asn)
c.2523A>T (p.Lys841Asn)
17g.50189485T>CCA500992172COL1A1c.2721A>G (p.Lys907=)
c.2667+194A>G (n.2667+194A>G)
c.1803A>G (p.Lys601=)
c.2523A>G (p.Lys841=)
 ClinVar
17g.50189485T>GCA400205862COL1A1c.2721A>C (p.Lys907Asn)
c.2667+194A>C (n.2667+194A>C)
c.1803A>C (p.Lys601Asn)
c.2523A>C (p.Lys841Asn)
17g.50189486T>ACA400205867COL1A1c.2720A>T (p.Lys907Ile)
c.2667+193A>T (n.2667+193A>T)
c.1802A>T (p.Lys601Ile)
c.2522A>T (p.Lys841Ile)
 dbSNP
17g.50189486T>CCA400205869COL1A1c.2720A>G (p.Lys907Arg)
c.2667+193A>G (n.2667+193A>G)
c.1802A>G (p.Lys601Arg)
c.2522A>G (p.Lys841Arg)
 gnomAD v4
17g.50189486T>GCA400205872COL1A1c.2720A>C (p.Lys907Thr)
c.2667+193A>C (n.2667+193A>C)
c.1802A>C (p.Lys601Thr)
c.2522A>C (p.Lys841Thr)
17g.50189487T>ACA400205877COL1A1c.2719A>T (p.Lys907Ter)
c.2667+192A>T (n.2667+192A>T)
c.1801A>T (p.Lys601Ter)
c.2521A>T (p.Lys841Ter)
 ClinVar
17g.50189487T>CCA400205880COL1A1c.2719A>G (p.Lys907Glu)
c.2667+192A>G (n.2667+192A>G)
c.1801A>G (p.Lys601Glu)
c.2521A>G (p.Lys841Glu)
17g.50189487T>GCA400205883COL1A1c.2719A>C (p.Lys907Gln)
c.2667+192A>C (n.2667+192A>C)
c.1801A>C (p.Lys601Gln)
c.2521A>C (p.Lys841Gln)
17g.50189488G>ACA500992173COL1A1c.2718C>T (p.Gly906=)
c.2667+191C>T (n.2667+191C>T)
c.1800C>T (p.Gly600=)
c.2520C>T (p.Gly840=)
17g.50189488G>CCA500992174COL1A1c.2718C>G (p.Gly906=)
c.2667+191C>G (n.2667+191C>G)
c.1800C>G (p.Gly600=)
c.2520C>G (p.Gly840=)
17g.50189488G=CA2263915686COL1A1c.2718C= (p.Gly906=)
c.2667+191C= (n.2667+191C=)
c.1800C= (p.Gly600=)
c.2520C= (p.Gly840=)
17g.50189488G>TCA500992175COL1A1c.2718C>A (p.Gly906=)
c.2667+191C>A (n.2667+191C>A)
c.1800C>A (p.Gly600=)
c.2520C>A (p.Gly840=)
17g.50189489C>ACA8644694COL1A1c.2717G>T (p.Gly906Val)
c.2667+190G>T (n.2667+190G>T)
c.1799G>T (p.Gly600Val)
c.2519G>T (p.Gly840Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50189489C=CA2263915687COL1A1c.2717G= (p.Gly906=)
c.2667+190G= (n.2667+190G=)
c.1799G= (p.Gly600=)
c.2519G= (p.Gly840=)
17g.50189489C>GCA400205888COL1A1c.2717G>C (p.Gly906Ala)
c.2667+190G>C (n.2667+190G>C)
c.1799G>C (p.Gly600Ala)
c.2519G>C (p.Gly840Ala)
17g.50189489C>TCA400205890COL1A1c.2717G>A (p.Gly906Asp)
c.2667+190G>A (n.2667+190G>A)
c.1799G>A (p.Gly600Asp)
c.2519G>A (p.Gly840Asp)
17g.50189490dupCA915950605COL1A1c.2717dup (p.Lys907GlnfsTer6)
c.2667+190dup (n.2667+190dup)
c.1799dup (p.Lys601GlnfsTer6)
c.2519dup (p.Lys841GlnfsTer6)
 ClinVar dbSNP
17g.50189490C>ACA400205899COL1A1c.2716G>T (p.Gly906Cys)
c.2667+189G>T (n.2667+189G>T)
c.1798G>T (p.Gly600Cys)
c.2518G>T (p.Gly840Cys)
17g.50189490C=CA2263915688COL1A1c.2716G= (p.Gly906=)
c.2667+189G= (n.2667+189G=)
c.1798G= (p.Gly600=)
c.2518G= (p.Gly840=)
17g.50189490C>GCA400205902COL1A1c.2716G>C (p.Gly906Arg)
c.2667+189G>C (n.2667+189G>C)
c.1798G>C (p.Gly600Arg)
c.2518G>C (p.Gly840Arg)
17g.50189490C>TCA8644695COL1A1c.2716G>A (p.Gly906Ser)
c.2667+189G>A (n.2667+189G>A)
c.1798G>A (p.Gly600Ser)
c.2518G>A (p.Gly840Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189491_50189492dupCA2695226491COL1A1c.2715_2716dup (p.Gly906AlafsTer?)
c.2667+188_2667+189dup (n.2667+188_2667+189dup)
c.1797_1798dup (p.Gly600AlafsTer?)
c.2517_2518dup (p.Gly840AlafsTer?)
17g.50189491delCA2499224722COL1A1c.2715del (p.Gly906AlafsTer?)
c.2667+188del (n.2667+188del)
c.1797del (p.Gly600AlafsTer?)
c.2517del (p.Gly840AlafsTer?)
 ClinVar dbSNP
17g.50189491G>ACA8644696COL1A1c.2715C>T (p.Gly905=)
c.2667+188C>T (n.2667+188C>T)
c.1797C>T (p.Gly599=)
c.2517C>T (p.Gly839=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189491G>CCA500992176COL1A1c.2715C>G (p.Gly905=)
c.2667+188C>G (n.2667+188C>G)
c.1797C>G (p.Gly599=)
c.2517C>G (p.Gly839=)
17g.50189491G=CA2263915689COL1A1c.2715C= (p.Gly905=)
c.2667+188C= (n.2667+188C=)
c.1797C= (p.Gly599=)
c.2517C= (p.Gly839=)
17g.50189491G>TCA500992177COL1A1c.2715C>A (p.Gly905=)
c.2667+188C>A (n.2667+188C>A)
c.1797C>A (p.Gly599=)
c.2517C>A (p.Gly839=)
 gnomAD v4
17g.50189492C>ACA400205907COL1A1c.2714G>T (p.Gly905Val)
c.2667+187G>T (n.2667+187G>T)
c.1796G>T (p.Gly599Val)
c.2516G>T (p.Gly839Val)
17g.50189492C>GCA400205910COL1A1c.2714G>C (p.Gly905Ala)
c.2667+187G>C (n.2667+187G>C)
c.1796G>C (p.Gly599Ala)
c.2516G>C (p.Gly839Ala)
17g.50189492C>TCA400205912COL1A1c.2714G>A (p.Gly905Asp)
c.2667+187G>A (n.2667+187G>A)
c.1796G>A (p.Gly599Asp)
c.2516G>A (p.Gly839Asp)
17g.50189493C>ACA400205917COL1A1c.2713G>T (p.Gly905Cys)
c.2667+186G>T (n.2667+186G>T)
c.1795G>T (p.Gly599Cys)
c.2515G>T (p.Gly839Cys)
 dbSNP
17g.50189493C=CA2263915690COL1A1c.2713G= (p.Gly905=)
c.2667+186G= (n.2667+186G=)
c.1795G= (p.Gly599=)
c.2515G= (p.Gly839=)
17g.50189493C>GCA400205921COL1A1c.2713G>C (p.Gly905Arg)
c.2667+186G>C (n.2667+186G>C)
c.1795G>C (p.Gly599Arg)
c.2515G>C (p.Gly839Arg)
17g.50189493C>TCA400205923COL1A1c.2713G>A (p.Gly905Ser)
c.2667+186G>A (n.2667+186G>A)
c.1795G>A (p.Gly599Ser)
c.2515G>A (p.Gly839Ser)
17g.50189494T>ACA400205928COL1A1c.2712A>T (p.Glu904Asp)
c.2667+185A>T (n.2667+185A>T)
c.1794A>T (p.Glu598Asp)
c.2514A>T (p.Glu838Asp)
17g.50189494T>CCA500992178COL1A1c.2712A>G (p.Glu904=)
c.2667+185A>G (n.2667+185A>G)
c.1794A>G (p.Glu598=)
c.2514A>G (p.Glu838=)
 dbSNP gnomAD v4
17g.50189494T>GCA400205930COL1A1c.2712A>C (p.Glu904Asp)
c.2667+185A>C (n.2667+185A>C)
c.1794A>C (p.Glu598Asp)
c.2514A>C (p.Glu838Asp)
17g.50189494T=CA2263915691COL1A1c.2712A= (p.Glu904=)
c.2667+185A= (n.2667+185A=)
c.1794A= (p.Glu598=)
c.2514A= (p.Glu838=)
17g.50189495T>ACA400205932COL1A1c.2711A>T (p.Glu904Val)
c.2667+184A>T (n.2667+184A>T)
c.1793A>T (p.Glu598Val)
c.2513A>T (p.Glu838Val)
17g.50189495T>CCA400205934COL1A1c.2711A>G (p.Glu904Gly)
c.2667+184A>G (n.2667+184A>G)
c.1793A>G (p.Glu598Gly)
c.2513A>G (p.Glu838Gly)
 gnomAD v4
17g.50189495T>GCA400205937COL1A1c.2711A>C (p.Glu904Ala)
c.2667+184A>C (n.2667+184A>C)
c.1793A>C (p.Glu598Ala)
c.2513A>C (p.Glu838Ala)
17g.50189496C>ACA400205938COL1A1c.2710G>T (p.Glu904Ter)
c.2667+183G>T (n.2667+183G>T)
c.1792G>T (p.Glu598Ter)
c.2512G>T (p.Glu838Ter)
17g.50189496C>GCA400205939COL1A1c.2710G>C (p.Glu904Gln)
c.2667+183G>C (n.2667+183G>C)
c.1792G>C (p.Glu598Gln)
c.2512G>C (p.Glu838Gln)
17g.50189496C>TCA400205940COL1A1c.2710G>A (p.Glu904Lys)
c.2667+183G>A (n.2667+183G>A)
c.1792G>A (p.Glu598Lys)
c.2512G>A (p.Glu838Lys)
17g.50189497T>ACA400205942COL1A1c.2709A>T (p.Lys903Asn)
c.2667+182A>T (n.2667+182A>T)
c.1791A>T (p.Lys597Asn)
c.2511A>T (p.Lys837Asn)
17g.50189497T>CCA500992179COL1A1c.2709A>G (p.Lys903=)
c.2667+182A>G (n.2667+182A>G)
c.1791A>G (p.Lys597=)
c.2511A>G (p.Lys837=)
17g.50189497T>GCA400205944COL1A1c.2709A>C (p.Lys903Asn)
c.2667+182A>C (n.2667+182A>C)
c.1791A>C (p.Lys597Asn)
c.2511A>C (p.Lys837Asn)
17g.50189498T>ACA400205946COL1A1c.2708A>T (p.Lys903Ile)
c.2667+181A>T (n.2667+181A>T)
c.1790A>T (p.Lys597Ile)
c.2510A>T (p.Lys837Ile)
17g.50189498T>CCA400205947COL1A1c.2708A>G (p.Lys903Arg)
c.2667+181A>G (n.2667+181A>G)
c.1790A>G (p.Lys597Arg)
c.2510A>G (p.Lys837Arg)
17g.50189498T>GCA400205948COL1A1c.2708A>C (p.Lys903Thr)
c.2667+181A>C (n.2667+181A>C)
c.1790A>C (p.Lys597Thr)
c.2510A>C (p.Lys837Thr)
17g.50189499T>ACA400205949COL1A1c.2707A>T (p.Lys903Ter)
c.2667+180A>T (n.2667+180A>T)
c.1789A>T (p.Lys597Ter)
c.2509A>T (p.Lys837Ter)
17g.50189499T>CCA400205950COL1A1c.2707A>G (p.Lys903Glu)
c.2667+180A>G (n.2667+180A>G)
c.1789A>G (p.Lys597Glu)
c.2509A>G (p.Lys837Glu)
17g.50189499T>GCA400205952COL1A1c.2707A>C (p.Lys903Gln)
c.2667+180A>C (n.2667+180A>C)
c.1789A>C (p.Lys597Gln)
c.2509A>C (p.Lys837Gln)
17g.50189500G>ACA500992180COL1A1c.2706C>T (p.Gly902=)
c.2667+179C>T (n.2667+179C>T)
c.1788C>T (p.Gly596=)
c.2508C>T (p.Gly836=)
17g.50189500G>CCA500992181COL1A1c.2706C>G (p.Gly902=)
c.2667+179C>G (n.2667+179C>G)
c.1788C>G (p.Gly596=)
c.2508C>G (p.Gly836=)
17g.50189500G>TCA500992182COL1A1c.2706C>A (p.Gly902=)
c.2667+179C>A (n.2667+179C>A)
c.1788C>A (p.Gly596=)
c.2508C>A (p.Gly836=)
17g.50189501C>ACA400205955COL1A1c.2705G>T (p.Gly902Val)
c.2667+178G>T (n.2667+178G>T)
c.1787G>T (p.Gly596Val)
c.2507G>T (p.Gly836Val)
17g.50189501C>GCA400205957COL1A1c.2705G>C (p.Gly902Ala)
c.2667+178G>C (n.2667+178G>C)
c.1787G>C (p.Gly596Ala)
c.2507G>C (p.Gly836Ala)
17g.50189501C>TCA400205960COL1A1c.2705G>A (p.Gly902Asp)
c.2667+178G>A (n.2667+178G>A)
c.1787G>A (p.Gly596Asp)
c.2507G>A (p.Gly836Asp)
 ClinVar dbSNP
17g.50189502delCA2580094238COL1A1c.2705del (p.Gly902AlafsTer?)
c.2667+178del (n.2667+178del)
c.1787del (p.Gly596AlafsTer?)
c.2507del (p.Gly836AlafsTer?)
 ClinVar
17g.50189502C>ACA400205963COL1A1c.2704G>T (p.Gly902Cys)
c.2667+177G>T (n.2667+177G>T)
c.1786G>T (p.Gly596Cys)
c.2506G>T (p.Gly836Cys)
17g.50189502C=CA2263915692COL1A1c.2704G= (p.Gly902=)
c.2667+177G= (n.2667+177G=)
c.1786G= (p.Gly596=)
c.2506G= (p.Gly836=)
17g.50189502C>GCA400205965COL1A1c.2704G>C (p.Gly902Arg)
c.2667+177G>C (n.2667+177G>C)
c.1786G>C (p.Gly596Arg)
c.2506G>C (p.Gly836Arg)
17g.50189502C>TCA400205966COL1A1c.2704G>A (p.Gly902Ser)
c.2667+177G>A (n.2667+177G>A)
c.1786G>A (p.Gly596Ser)
c.2506G>A (p.Gly836Ser)
 ClinVar dbSNP
17g.50189503A=CA2263915693COL1A1c.2703T= (p.Ala901=)
c.2667+176T= (n.2667+176T=)
c.1785T= (p.Ala595=)
c.2505T= (p.Ala835=)
17g.50189503A>CCA500992183COL1A1c.2703T>G (p.Ala901=)
c.2667+176T>G (n.2667+176T>G)
c.1785T>G (p.Ala595=)
c.2505T>G (p.Ala835=)
17g.50189503A>GCA8644697COL1A1c.2703T>C (p.Ala901=)
c.2667+176T>C (n.2667+176T>C)
c.1785T>C (p.Ala595=)
c.2505T>C (p.Ala835=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50189503A>TCA500992184COL1A1c.2703T>A (p.Ala901=)
c.2667+176T>A (n.2667+176T>A)
c.1785T>A (p.Ala595=)
c.2505T>A (p.Ala835=)
17g.50189504G>ACA400205976COL1A1c.2702C>T (p.Ala901Val)
c.2667+175C>T (n.2667+175C>T)
c.1784C>T (p.Ala595Val)
c.2504C>T (p.Ala835Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50189504G>CCA400205971COL1A1c.2702C>G (p.Ala901Gly)
c.2667+175C>G (n.2667+175C>G)
c.1784C>G (p.Ala595Gly)
c.2504C>G (p.Ala835Gly)
17g.50189504G=CA2263915694COL1A1c.2702C= (p.Ala901=)
c.2667+175C= (n.2667+175C=)
c.1784C= (p.Ala595=)
c.2504C= (p.Ala835=)
17g.50189504G>TCA400205974COL1A1c.2702C>A (p.Ala901Asp)
c.2667+175C>A (n.2667+175C>A)
c.1784C>A (p.Ala595Asp)
c.2504C>A (p.Ala835Asp)
17g.50189505C>ACA8644698COL1A1c.2701G>T (p.Ala901Ser)
c.2667+174G>T (n.2667+174G>T)
c.1783G>T (p.Ala595Ser)
c.2503G>T (p.Ala835Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50189505C=CA2263915695COL1A1c.2701G= (p.Ala901=)
c.2667+174G= (n.2667+174G=)
c.1783G= (p.Ala595=)
c.2503G= (p.Ala835=)
17g.50189505C>GCA400205980COL1A1c.2701G>C (p.Ala901Pro)
c.2667+174G>C (n.2667+174G>C)
c.1783G>C (p.Ala595Pro)
c.2503G>C (p.Ala835Pro)
17g.50189505C>TCA291543200COL1A1c.2701G>A (p.Ala901Thr)
c.2667+174G>A (n.2667+174G>A)
c.1783G>A (p.Ala595Thr)
c.2503G>A (p.Ala835Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.50189506A>CCA500992185COL1A1c.2700T>G (p.Pro900=)
c.2667+173T>G (n.2667+173T>G)
c.1782T>G (p.Pro594=)
c.2502T>G (p.Pro834=)
17g.50189506A>GCA500992187COL1A1c.2700T>C (p.Pro900=)
c.2667+173T>C (n.2667+173T>C)
c.1782T>C (p.Pro594=)
c.2502T>C (p.Pro834=)
17g.50189506A>TCA500992186COL1A1c.2700T>A (p.Pro900=)
c.2667+173T>A (n.2667+173T>A)
c.1782T>A (p.Pro594=)
c.2502T>A (p.Pro834=)
17g.50189507G>ACA400205987COL1A1c.2699C>T (p.Pro900Leu)
c.2667+172C>T (n.2667+172C>T)
c.1781C>T (p.Pro594Leu)
c.2501C>T (p.Pro834Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.50189507G>CCA400205985COL1A1c.2699C>G (p.Pro900Arg)
c.2667+172C>G (n.2667+172C>G)
c.1781C>G (p.Pro594Arg)
c.2501C>G (p.Pro834Arg)
17g.50189507G=CA2263915696COL1A1c.2699C= (p.Pro900=)
c.2667+172C= (n.2667+172C=)
c.1781C= (p.Pro594=)
c.2501C= (p.Pro834=)
17g.50189507G>TCA400205984COL1A1c.2699C>A (p.Pro900His)
c.2667+172C>A (n.2667+172C>A)
c.1781C>A (p.Pro594His)
c.2501C>A (p.Pro834His)
17g.50189508G>ACA400205990COL1A1c.2698C>T (p.Pro900Ser)
c.2667+171C>T (n.2667+171C>T)
c.1780C>T (p.Pro594Ser)
c.2500C>T (p.Pro834Ser)
 dbSNP
17g.50189508G>CCA400205992COL1A1c.2698C>G (p.Pro900Ala)
c.2667+171C>G (n.2667+171C>G)
c.1780C>G (p.Pro594Ala)
c.2500C>G (p.Pro834Ala)
17g.50189508G=CA2263915697COL1A1c.2698C= (p.Pro900=)
c.2667+171C= (n.2667+171C=)
c.1780C= (p.Pro594=)
c.2500C= (p.Pro834=)
17g.50189508G>TCA400205994COL1A1c.2698C>A (p.Pro900Thr)
c.2667+171C>A (n.2667+171C>A)
c.1780C>A (p.Pro594Thr)
c.2500C>A (p.Pro834Thr)
17g.50189509A>CCA500992188COL1A1c.2697T>G (p.Gly899=)
c.2667+170T>G (n.2667+170T>G)
c.1779T>G (p.Gly593=)
c.2499T>G (p.Gly833=)
17g.50189509A>GCA500992189COL1A1c.2697T>C (p.Gly899=)
c.2667+170T>C (n.2667+170T>C)
c.1779T>C (p.Gly593=)
c.2499T>C (p.Gly833=)
17g.50189509A>TCA500992190COL1A1c.2697T>A (p.Gly899=)
c.2667+170T>A (n.2667+170T>A)
c.1779T>A (p.Gly593=)
c.2499T>A (p.Gly833=)
17g.50189510C>ACA400205996COL1A1c.2696G>T (p.Gly899Val)
c.2667+169G>T (n.2667+169G>T)
c.1778G>T (p.Gly593Val)
c.2498G>T (p.Gly833Val)
17g.50189510C=CA2263915698COL1A1c.2696G= (p.Gly899=)
c.2667+169G= (n.2667+169G=)
c.1778G= (p.Gly593=)
c.2498G= (p.Gly833=)
17g.50189510C>GCA400205998COL1A1c.2696G>C (p.Gly899Ala)
c.2667+169G>C (n.2667+169G>C)
c.1778G>C (p.Gly593Ala)
c.2498G>C (p.Gly833Ala)
17g.50189510C>TCA400206000COL1A1c.2696G>A (p.Gly899Asp)
c.2667+169G>A (n.2667+169G>A)
c.1778G>A (p.Gly593Asp)
c.2498G>A (p.Gly833Asp)
 ClinVar dbSNP
17g.50189511C>ACA400206002COL1A1c.2695G>T (p.Gly899Cys)
c.2667+168G>T (n.2667+168G>T)
c.1777G>T (p.Gly593Cys)
c.2497G>T (p.Gly833Cys)
 dbSNP
17g.50189511C>GCA400206005COL1A1c.2695G>C (p.Gly899Arg)
c.2667+168G>C (n.2667+168G>C)
c.1777G>C (p.Gly593Arg)
c.2497G>C (p.Gly833Arg)
17g.50189511C>TCA400206004COL1A1c.2695G>A (p.Gly899Ser)
c.2667+168G>A (n.2667+168G>A)
c.1777G>A (p.Gly593Ser)
c.2497G>A (p.Gly833Ser)
17g.50189512A>CCA500992191COL1A1c.2694T>G (p.Pro898=)
c.2667+167T>G (n.2667+167T>G)
c.1776T>G (p.Pro592=)
c.2496T>G (p.Pro832=)
 gnomAD v4
17g.50189512A>GCA500992192COL1A1c.2694T>C (p.Pro898=)
c.2667+167T>C (n.2667+167T>C)
c.1776T>C (p.Pro592=)
c.2496T>C (p.Pro832=)
17g.50189512A>TCA500992193COL1A1c.2694T>A (p.Pro898=)
c.2667+167T>A (n.2667+167T>A)
c.1776T>A (p.Pro592=)
c.2496T>A (p.Pro832=)
17g.50189513G>ACA400206008COL1A1c.2693C>T (p.Pro898Leu)
c.2667+166C>T (n.2667+166C>T)
c.1775C>T (p.Pro592Leu)
c.2495C>T (p.Pro832Leu)
17g.50189513G>CCA400206009COL1A1c.2693C>G (p.Pro898Arg)
c.2667+166C>G (n.2667+166C>G)
c.1775C>G (p.Pro592Arg)
c.2495C>G (p.Pro832Arg)
17g.50189513G=CA2263915699COL1A1c.2693C= (p.Pro898=)
c.2667+166C= (n.2667+166C=)
c.1775C= (p.Pro592=)
c.2495C= (p.Pro832=)
17g.50189513G>TCA291543202COL1A1c.2693C>A (p.Pro898His)
c.2667+166C>A (n.2667+166C>A)
c.1775C>A (p.Pro592His)
c.2495C>A (p.Pro832His)
 dbSNP gnomAD v4
17g.50189514G>ACA400206011COL1A1c.2692C>T (p.Pro898Ser)
c.2667+165C>T (n.2667+165C>T)
c.1774C>T (p.Pro592Ser)
c.2494C>T (p.Pro832Ser)
 dbSNP
17g.50189514G>CCA400206012COL1A1c.2692C>G (p.Pro898Ala)
c.2667+165C>G (n.2667+165C>G)
c.1774C>G (p.Pro592Ala)
c.2494C>G (p.Pro832Ala)
17g.50189514G=CA2263915700COL1A1c.2692C= (p.Pro898=)
c.2667+165C= (n.2667+165C=)
c.1774C= (p.Pro592=)
c.2494C= (p.Pro832=)
17g.50189514G>TCA400206014COL1A1c.2692C>A (p.Pro898Thr)
c.2667+165C>A (n.2667+165C>A)
c.1774C>A (p.Pro592Thr)
c.2494C>A (p.Pro832Thr)
17g.50189515A>CCA500992194COL1A1c.2691T>G (p.Pro897=)
c.2667+164T>G (n.2667+164T>G)
c.1773T>G (p.Pro591=)
c.2493T>G (p.Pro831=)
17g.50189515A>GCA500992195COL1A1c.2691T>C (p.Pro897=)
c.2667+164T>C (n.2667+164T>C)
c.1773T>C (p.Pro591=)
c.2493T>C (p.Pro831=)
 dbSNP
17g.50189515A>TCA500992196COL1A1c.2691T>A (p.Pro897=)
c.2667+164T>A (n.2667+164T>A)
c.1773T>A (p.Pro591=)
c.2493T>A (p.Pro831=)
17g.50189516G>ACA400206017COL1A1c.2690C>T (p.Pro897Leu)
c.2667+163C>T (n.2667+163C>T)
c.1772C>T (p.Pro591Leu)
c.2492C>T (p.Pro831Leu)
 dbSNP
17g.50189516G>CCA400206018COL1A1c.2690C>G (p.Pro897Arg)
c.2667+163C>G (n.2667+163C>G)
c.1772C>G (p.Pro591Arg)
c.2492C>G (p.Pro831Arg)
17g.50189516G=CA2263915701COL1A1c.2690C= (p.Pro897=)
c.2667+163C= (n.2667+163C=)
c.1772C= (p.Pro591=)
c.2492C= (p.Pro831=)
17g.50189516G>TCA400206020COL1A1c.2690C>A (p.Pro897His)
c.2667+163C>A (n.2667+163C>A)
c.1772C>A (p.Pro591His)
c.2492C>A (p.Pro831His)
17g.50189517G>ACA400206022COL1A1c.2689C>T (p.Pro897Ser)
c.2667+162C>T (n.2667+162C>T)
c.1771C>T (p.Pro591Ser)
c.2491C>T (p.Pro831Ser)
 gnomAD v4 COSMIC
17g.50189517G>CCA400206023COL1A1c.2689C>G (p.Pro897Ala)
c.2667+162C>G (n.2667+162C>G)
c.1771C>G (p.Pro591Ala)
c.2491C>G (p.Pro831Ala)
17g.50189517G>TCA400206024COL1A1c.2689C>A (p.Pro897Thr)
c.2667+162C>A (n.2667+162C>A)
c.1771C>A (p.Pro591Thr)
c.2491C>A (p.Pro831Thr)
17g.50189518G>ACA500992197COL1A1c.2688C>T (p.Gly896=)
c.2667+161C>T (n.2667+161C>T)
c.1770C>T (p.Gly590=)
c.2490C>T (p.Gly830=)
 gnomAD v4
17g.50189518G>CCA500992198COL1A1c.2688C>G (p.Gly896=)
c.2667+161C>G (n.2667+161C>G)
c.1770C>G (p.Gly590=)
c.2490C>G (p.Gly830=)
17g.50189518G>TCA500992199COL1A1c.2688C>A (p.Gly896=)
c.2667+161C>A (n.2667+161C>A)
c.1770C>A (p.Gly590=)
c.2490C>A (p.Gly830=)
17g.50189519C>ACA400206028COL1A1c.2687G>T (p.Gly896Val)
c.2667+160G>T (n.2667+160G>T)
c.1769G>T (p.Gly590Val)
c.2489G>T (p.Gly830Val)
17g.50189519C>GCA400206030COL1A1c.2687G>C (p.Gly896Ala)
c.2667+160G>C (n.2667+160G>C)
c.1769G>C (p.Gly590Ala)
c.2489G>C (p.Gly830Ala)
17g.50189519C>TCA400206027COL1A1c.2687G>A (p.Gly896Asp)
c.2667+160G>A (n.2667+160G>A)
c.1769G>A (p.Gly590Asp)
c.2489G>A (p.Gly830Asp)
17g.50189520delCA2638703625COL1A1c.2687del (p.Gly896AlafsTer?)
c.2667+160del (n.2667+160del)
c.1769del (p.Gly590AlafsTer?)
c.2489del (p.Gly830AlafsTer?)
 gnomAD v4
17g.50189520C>ACA257833COL1A1c.2686G>T (p.Gly896Cys)
c.2667+159G>T (n.2667+159G>T)
c.1768G>T (p.Gly590Cys)
c.2488G>T (p.Gly830Cys)
 ClinVar dbSNP
17g.50189520C=CA2263915702COL1A1c.2686G= (p.Gly896=)
c.2667+159G= (n.2667+159G=)
c.1768G= (p.Gly590=)
c.2488G= (p.Gly830=)
17g.50189520C>GCA400206032COL1A1c.2686G>C (p.Gly896Arg)
c.2667+159G>C (n.2667+159G>C)
c.1768G>C (p.Gly590Arg)
c.2488G>C (p.Gly830Arg)
17g.50189520C>TCA400206033COL1A1c.2686G>A (p.Gly896Ser)
c.2667+159G>A (n.2667+159G>A)
c.1768G>A (p.Gly590Ser)
c.2488G>A (p.Gly830Ser)
17g.50189520_50189521delinsCACA2263915703COL1A1c.2685_2686delinsTG (p.Pro895=)
c.2667+158_2667+159delinsTG (n.2667+158_2667+159delinsTG)
c.1767_1768delinsTG (p.Pro589=)
c.2487_2488delinsTG (p.Pro829=)
17g.50189521delCA260301COL1A1c.2685del (p.Gly896AlafsTer?)
c.2667+158del (n.2667+158del)
c.1767del (p.Gly590AlafsTer?)
c.2487del (p.Gly830AlafsTer?)
 ClinVar dbSNP
17g.50189521A>CCA500992200COL1A1c.2685T>G (p.Pro895=)
c.2667+158T>G (n.2667+158T>G)
c.1767T>G (p.Pro589=)
c.2487T>G (p.Pro829=)
17g.50189521A>GCA500992201COL1A1c.2685T>C (p.Pro895=)
c.2667+158T>C (n.2667+158T>C)
c.1767T>C (p.Pro589=)
c.2487T>C (p.Pro829=)
17g.50189521A>TCA500992202COL1A1c.2685T>A (p.Pro895=)
c.2667+158T>A (n.2667+158T>A)
c.1767T>A (p.Pro589=)
c.2487T>A (p.Pro829=)
17g.50189521_50189522delinsAGCA2263915704COL1A1c.2684_2685delinsCT (p.Pro895=)
c.2667+157_2667+158delinsCT (n.2667+157_2667+158delinsCT)
c.1766_1767delinsCT (p.Pro589=)
c.2486_2487delinsCT (p.Pro829=)
17g.50189522G>ACA291543207COL1A1c.2684C>T (p.Pro895Leu)
c.2667+157C>T (n.2667+157C>T)
c.1766C>T (p.Pro589Leu)
c.2486C>T (p.Pro829Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50189522G>CCA400206039COL1A1c.2684C>G (p.Pro895Arg)
c.2667+157C>G (n.2667+157C>G)
c.1766C>G (p.Pro589Arg)
c.2486C>G (p.Pro829Arg)
17g.50189522G=CA2263915705COL1A1c.2684C= (p.Pro895=)
c.2667+157C= (n.2667+157C=)
c.1766C= (p.Pro589=)
c.2486C= (p.Pro829=)
17g.50189522G>TCA400206041COL1A1c.2684C>A (p.Pro895His)
c.2667+157C>A (n.2667+157C>A)
c.1766C>A (p.Pro589His)
c.2486C>A (p.Pro829His)
17g.50189526dupCA891843991COL1A1c.2684dup (p.Gly896TrpfsTer17)
c.2667+157dup (n.2667+157dup)
c.1766dup (p.Gly590TrpfsTer17)
c.2486dup (p.Gly830TrpfsTer17)
 ClinVar dbSNP
17g.50189526delCA291543204COL1A1c.2684del (p.Pro895LeufsTer?)
c.2667+157del (n.2667+157del)
c.1766del (p.Pro589LeufsTer?)
c.2486del (p.Pro829LeufsTer?)
 ClinVar dbSNP
17g.50189523G>ACA400206044COL1A1c.2683C>T (p.Pro895Ser)
c.2667+156C>T (n.2667+156C>T)
c.1765C>T (p.Pro589Ser)
c.2485C>T (p.Pro829Ser)
17g.50189523G>CCA400206046COL1A1c.2683C>G (p.Pro895Ala)
c.2667+156C>G (n.2667+156C>G)
c.1765C>G (p.Pro589Ala)
c.2485C>G (p.Pro829Ala)
17g.50189523G>TCA400206048COL1A1c.2683C>A (p.Pro895Thr)
c.2667+156C>A (n.2667+156C>A)
c.1765C>A (p.Pro589Thr)
c.2485C>A (p.Pro829Thr)
17g.50189524G>ACA500992203COL1A1c.2682C>T (p.Pro894=)
c.2667+155C>T (n.2667+155C>T)
c.1764C>T (p.Pro588=)
c.2484C>T (p.Pro828=)
17g.50189524G>CCA500992204COL1A1c.2682C>G (p.Pro894=)
c.2667+155C>G (n.2667+155C>G)
c.1764C>G (p.Pro588=)
c.2484C>G (p.Pro828=)
17g.50189524G=CA2263915706COL1A1c.2682C= (p.Pro894=)
c.2667+155C= (n.2667+155C=)
c.1764C= (p.Pro588=)
c.2484C= (p.Pro828=)
17g.50189524G>TCA500992205COL1A1c.2682C>A (p.Pro894=)
c.2667+155C>A (n.2667+155C>A)
c.1764C>A (p.Pro588=)
c.2484C>A (p.Pro828=)
 dbSNP gnomAD v3 gnomAD v4
17g.50189525G>ACA400206051COL1A1c.2681C>T (p.Pro894Leu)
c.2667+154C>T (n.2667+154C>T)
c.1763C>T (p.Pro588Leu)
c.2483C>T (p.Pro828Leu)
17g.50189525G>CCA400206054COL1A1c.2681C>G (p.Pro894Arg)
c.2667+154C>G (n.2667+154C>G)
c.1763C>G (p.Pro588Arg)
c.2483C>G (p.Pro828Arg)
17g.50189525G=CA2263915707COL1A1c.2681C= (p.Pro894=)
c.2667+154C= (n.2667+154C=)
c.1763C= (p.Pro588=)
c.2483C= (p.Pro828=)
17g.50189525G>TCA8644699COL1A1c.2681C>A (p.Pro894His)
c.2667+154C>A (n.2667+154C>A)
c.1763C>A (p.Pro588His)
c.2483C>A (p.Pro828His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50189526G>ACA400206061COL1A1c.2680C>T (p.Pro894Ser)
c.2667+153C>T (n.2667+153C>T)
c.1762C>T (p.Pro588Ser)
c.2482C>T (p.Pro828Ser)
 ClinVar gnomAD v4
17g.50189526G>CCA400206060COL1A1c.2680C>G (p.Pro894Ala)
c.2667+153C>G (n.2667+153C>G)
c.1762C>G (p.Pro588Ala)
c.2482C>G (p.Pro828Ala)
17g.50189526G>TCA400206057COL1A1c.2680C>A (p.Pro894Thr)
c.2667+153C>A (n.2667+153C>A)
c.1762C>A (p.Pro588Thr)
c.2482C>A (p.Pro828Thr)
17g.50189527T>ACA500992208COL1A1c.2679A>T (p.Gly893=)
c.2667+152A>T (n.2667+152A>T)
c.1761A>T (p.Gly587=)
c.2481A>T (p.Gly827=)
 dbSNP gnomAD v3 gnomAD v4
17g.50189527T>CCA500992206COL1A1c.2679A>G (p.Gly893=)
c.2667+152A>G (n.2667+152A>G)
c.1761A>G (p.Gly587=)
c.2481A>G (p.Gly827=)
17g.50189527T>GCA500992207COL1A1c.2679A>C (p.Gly893=)
c.2667+152A>C (n.2667+152A>C)
c.1761A>C (p.Gly587=)
c.2481A>C (p.Gly827=)
 dbSNP
17g.50189528C>ACA400206064COL1A1c.2678G>T (p.Gly893Val)
c.2667+151G>T (n.2667+151G>T)
c.1760G>T (p.Gly587Val)
c.2480G>T (p.Gly827Val)
17g.50189528C>GCA400206066COL1A1c.2678G>C (p.Gly893Ala)
c.2667+151G>C (n.2667+151G>C)
c.1760G>C (p.Gly587Ala)
c.2480G>C (p.Gly827Ala)
 ClinVar dbSNP
17g.50189528C>TCA400206067COL1A1c.2678G>A (p.Gly893Glu)
c.2667+151G>A (n.2667+151G>A)
c.1760G>A (p.Gly587Glu)
c.2480G>A (p.Gly827Glu)

Number of alleles fetched