Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47975611_47976075delCA2573148599COL2A1c.3294_3401del
c.3501_3608del
n.2587_2694del
n.354_461del
c.3645_3752del
c.3642_3749del
c.2589_2696del
c.3435_3542del
c.2955_3062del
 ClinVar
12g.47975944_47975969dupCA604848349COL2A1c.3390+3_3390+28dup
c.3597+3_3597+28dup
n.2683+3_2683+28dup
n.450+3_450+28dup
c.3741+3_3741+28dup
c.3738+3_3738+28dup
c.2685+3_2685+28dup
c.3531+3_3531+28dup
c.3051+3_3051+28dup
 gnomAD v2 gnomAD v4
12g.47975960_47976351delinsTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCA2034474748COL2A1c.3282+163_3390+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.3489+163_3597+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
n.2575+163_2683+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
n.342+163_450+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.3633+163_3741+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.3630+163_3738+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.2577+163_2685+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.3423+163_3531+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
c.2943+163_3051+3delinsCGCCTGAGGCCACAATGGCTGTAAGACAAACATGAATCAGCCTCTCGCTGTCAGACAGAACAGCATTTTACAAAGAGGAGCTTAGGAGGGTAGGCAAGCCATGGAGCTATCCTGCTGGTTCTTGGCCAAATAGAGACCAACTTAGGGTTCCATGACTGAGCATGTGAAGAACTGGGGGCGGAGTGGCTGGTGCTATCAGGACAGCCACCTACCCAGCCCCAGCGACTCCCCAGCCTTCCCTGTGGTGACCACTCTTTCCTCACGACCTCTCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTA
12g.47975961_47976351delCA281738COL2A1c.3282+163_3390+2del
c.3489+163_3597+2del
n.2575+163_2683+2del
n.342+163_450+2del
c.3633+163_3741+2del
c.3630+163_3738+2del
c.2577+163_2685+2del
c.3423+163_3531+2del
c.2943+163_3051+2del
 ClinVar dbSNP
12g.47975962C>ACA384537249COL2A1c.3390+1G>T (n.3390+1G>T)
c.3597+1G>T (n.3597+1G>T)
n.2683+1G>T
n.450+1G>T
c.3741+1G>T (n.3741+1G>T)
c.3738+1G>T (n.3738+1G>T)
c.2685+1G>T (n.2685+1G>T)
c.3531+1G>T (n.3531+1G>T)
c.3051+1G>T (n.3051+1G>T)
12g.47975962C=CA2034474753COL2A1c.3390+1G= (n.3390+1G=)
c.3597+1G= (n.3597+1G=)
n.2683+1G=
n.450+1G=
c.3741+1G= (n.3741+1G=)
c.3738+1G= (n.3738+1G=)
c.2685+1G= (n.2685+1G=)
c.3531+1G= (n.3531+1G=)
c.3051+1G= (n.3051+1G=)
12g.47975962C>GCA384537250COL2A1c.3390+1G>C (n.3390+1G>C)
c.3597+1G>C (n.3597+1G>C)
n.2683+1G>C
n.450+1G>C
c.3741+1G>C (n.3741+1G>C)
c.3738+1G>C (n.3738+1G>C)
c.2685+1G>C (n.2685+1G>C)
c.3531+1G>C (n.3531+1G>C)
c.3051+1G>C (n.3051+1G>C)
 ClinVar dbSNP
12g.47975962C>TCA384537251COL2A1c.3390+1G>A (n.3390+1G>A)
c.3597+1G>A (n.3597+1G>A)
n.2683+1G>A
n.450+1G>A
c.3741+1G>A (n.3741+1G>A)
c.3738+1G>A (n.3738+1G>A)
c.2685+1G>A (n.2685+1G>A)
c.3531+1G>A (n.3531+1G>A)
c.3051+1G>A (n.3051+1G>A)
 ClinVar dbSNP
12g.47975963_47976070delCA281737COL2A1c.3284_3390+1del
c.3491_3597+1del
n.2577_2683+1del
n.344_450+1del
c.3635_3741+1del
c.3632_3738+1del
c.2579_2685+1del
c.3425_3531+1del
c.2945_3051+1del
12g.47975963A>CCA479451416COL2A1c.3390T>G (p.Ala1130=)
c.3597T>G (p.Ala1199=)
n.2683T>G
n.450T>G
c.3741T>G (p.Ala1247=)
c.3738T>G (p.Ala1246=)
c.2685T>G (p.Ala895=)
c.3531T>G (p.Ala1177=)
c.3051T>G (p.Ala1017=)
12g.47975963A>GCA479451417COL2A1c.3390T>C (p.Ala1130=)
c.3597T>C (p.Ala1199=)
n.2683T>C
n.450T>C
c.3741T>C (p.Ala1247=)
c.3738T>C (p.Ala1246=)
c.2685T>C (p.Ala895=)
c.3531T>C (p.Ala1177=)
c.3051T>C (p.Ala1017=)
12g.47975963A>TCA479451418COL2A1c.3390T>A (p.Ala1130=)
c.3597T>A (p.Ala1199=)
n.2683T>A
n.450T>A
c.3741T>A (p.Ala1247=)
c.3738T>A (p.Ala1246=)
c.2685T>A (p.Ala895=)
c.3531T>A (p.Ala1177=)
c.3051T>A (p.Ala1017=)
12g.47975964G>ACA384537253COL2A1c.3389C>T (p.Ala1130Val)
c.3596C>T (p.Ala1199Val)
n.2682C>T
n.449C>T
c.3740C>T (p.Ala1247Val)
c.3737C>T (p.Ala1246Val)
c.2684C>T (p.Ala895Val)
c.3530C>T (p.Ala1177Val)
c.3050C>T (p.Ala1017Val)
12g.47975964G>CCA384537254COL2A1c.3389C>G (p.Ala1130Gly)
c.3596C>G (p.Ala1199Gly)
n.2682C>G
n.449C>G
c.3740C>G (p.Ala1247Gly)
c.3737C>G (p.Ala1246Gly)
c.2684C>G (p.Ala895Gly)
c.3530C>G (p.Ala1177Gly)
c.3050C>G (p.Ala1017Gly)
12g.47975964G>TCA384537252COL2A1c.3389C>A (p.Ala1130Asp)
c.3596C>A (p.Ala1199Asp)
n.2682C>A
n.449C>A
c.3740C>A (p.Ala1247Asp)
c.3737C>A (p.Ala1246Asp)
c.2684C>A (p.Ala895Asp)
c.3530C>A (p.Ala1177Asp)
c.3050C>A (p.Ala1017Asp)
12g.47975964dupCA2695216623COL2A1c.3389dup (p.Gly1131TrpfsTer?)
c.3596dup (p.Gly1200TrpfsTer?)
n.2682dup
n.449dup
c.3740dup (p.Gly1248TrpfsTer?)
c.3737dup (p.Gly1247TrpfsTer?)
c.2684dup (p.Gly896TrpfsTer?)
c.3530dup (p.Gly1178TrpfsTer?)
c.3050dup (p.Gly1018TrpfsTer?)
12g.47975965C>ACA384537255COL2A1c.3388G>T (p.Ala1130Ser)
c.3595G>T (p.Ala1199Ser)
n.2681G>T
n.448G>T
c.3739G>T (p.Ala1247Ser)
c.3736G>T (p.Ala1246Ser)
c.2683G>T (p.Ala895Ser)
c.3529G>T (p.Ala1177Ser)
c.3049G>T (p.Ala1017Ser)
12g.47975965C>GCA384537256COL2A1c.3388G>C (p.Ala1130Pro)
c.3595G>C (p.Ala1199Pro)
n.2681G>C
n.448G>C
c.3739G>C (p.Ala1247Pro)
c.3736G>C (p.Ala1246Pro)
c.2683G>C (p.Ala895Pro)
c.3529G>C (p.Ala1177Pro)
c.3049G>C (p.Ala1017Pro)
12g.47975965C>TCA384537257COL2A1c.3388G>A (p.Ala1130Thr)
c.3595G>A (p.Ala1199Thr)
n.2681G>A
n.448G>A
c.3739G>A (p.Ala1247Thr)
c.3736G>A (p.Ala1246Thr)
c.2683G>A (p.Ala895Thr)
c.3529G>A (p.Ala1177Thr)
c.3049G>A (p.Ala1017Thr)
 gnomAD v4
12g.47975966A>CCA479451426COL2A1c.3387T>G (p.Pro1129=)
c.3594T>G (p.Pro1198=)
n.2680T>G
n.447T>G
c.3738T>G (p.Pro1246=)
c.3735T>G (p.Pro1245=)
c.2682T>G (p.Pro894=)
c.3528T>G (p.Pro1176=)
c.3048T>G (p.Pro1016=)
12g.47975966A>GCA479451427COL2A1c.3387T>C (p.Pro1129=)
c.3594T>C (p.Pro1198=)
n.2680T>C
n.447T>C
c.3738T>C (p.Pro1246=)
c.3735T>C (p.Pro1245=)
c.2682T>C (p.Pro894=)
c.3528T>C (p.Pro1176=)
c.3048T>C (p.Pro1016=)
12g.47975966A>TCA479451428COL2A1c.3387T>A (p.Pro1129=)
c.3594T>A (p.Pro1198=)
n.2680T>A
n.447T>A
c.3738T>A (p.Pro1246=)
c.3735T>A (p.Pro1245=)
c.2682T>A (p.Pro894=)
c.3528T>A (p.Pro1176=)
c.3048T>A (p.Pro1016=)
12g.47975967G>ACA384537258COL2A1c.3386C>T (p.Pro1129Leu)
c.3593C>T (p.Pro1198Leu)
n.2679C>T
n.446C>T
c.3737C>T (p.Pro1246Leu)
c.3734C>T (p.Pro1245Leu)
c.2681C>T (p.Pro894Leu)
c.3527C>T (p.Pro1176Leu)
c.3047C>T (p.Pro1016Leu)
12g.47975967G>CCA384537259COL2A1c.3386C>G (p.Pro1129Arg)
c.3593C>G (p.Pro1198Arg)
n.2679C>G
n.446C>G
c.3737C>G (p.Pro1246Arg)
c.3734C>G (p.Pro1245Arg)
c.2681C>G (p.Pro894Arg)
c.3527C>G (p.Pro1176Arg)
c.3047C>G (p.Pro1016Arg)
12g.47975967G>TCA384537260COL2A1c.3386C>A (p.Pro1129His)
c.3593C>A (p.Pro1198His)
n.2679C>A
n.446C>A
c.3737C>A (p.Pro1246His)
c.3734C>A (p.Pro1245His)
c.2681C>A (p.Pro894His)
c.3527C>A (p.Pro1176His)
c.3047C>A (p.Pro1016His)
12g.47975968G>ACA384537261COL2A1c.3385C>T (p.Pro1129Ser)
c.3592C>T (p.Pro1198Ser)
n.2678C>T
n.445C>T
c.3736C>T (p.Pro1246Ser)
c.3733C>T (p.Pro1245Ser)
c.2680C>T (p.Pro894Ser)
c.3526C>T (p.Pro1176Ser)
c.3046C>T (p.Pro1016Ser)
12g.47975968G>CCA384537263COL2A1c.3385C>G (p.Pro1129Ala)
c.3592C>G (p.Pro1198Ala)
n.2678C>G
n.445C>G
c.3736C>G (p.Pro1246Ala)
c.3733C>G (p.Pro1245Ala)
c.2680C>G (p.Pro894Ala)
c.3526C>G (p.Pro1176Ala)
c.3046C>G (p.Pro1016Ala)
12g.47975968G>TCA384537262COL2A1c.3385C>A (p.Pro1129Thr)
c.3592C>A (p.Pro1198Thr)
n.2678C>A
n.445C>A
c.3736C>A (p.Pro1246Thr)
c.3733C>A (p.Pro1245Thr)
c.2680C>A (p.Pro894Thr)
c.3526C>A (p.Pro1176Thr)
c.3046C>A (p.Pro1016Thr)
12g.47975969G>ACA236517613COL2A1c.3384C>T (p.Gly1128=)
c.3591C>T (p.Gly1197=)
n.2677C>T
n.444C>T
c.3735C>T (p.Gly1245=)
c.3732C>T (p.Gly1244=)
c.2679C>T (p.Gly893=)
c.3525C>T (p.Gly1175=)
c.3045C>T (p.Gly1015=)
 ClinVar dbSNP
12g.47975969G>CCA479451431COL2A1c.3384C>G (p.Gly1128=)
c.3591C>G (p.Gly1197=)
n.2677C>G
n.444C>G
c.3735C>G (p.Gly1245=)
c.3732C>G (p.Gly1244=)
c.2679C>G (p.Gly893=)
c.3525C>G (p.Gly1175=)
c.3045C>G (p.Gly1015=)
12g.47975969G=CA2034474756COL2A1c.3384C= (p.Gly1128=)
c.3591C= (p.Gly1197=)
n.2677C=
n.444C=
c.3735C= (p.Gly1245=)
c.3732C= (p.Gly1244=)
c.2679C= (p.Gly893=)
c.3525C= (p.Gly1175=)
c.3045C= (p.Gly1015=)
12g.47975969G>TCA479451430COL2A1c.3384C>A (p.Gly1128=)
c.3591C>A (p.Gly1197=)
n.2677C>A
n.444C>A
c.3735C>A (p.Gly1245=)
c.3732C>A (p.Gly1244=)
c.2679C>A (p.Gly893=)
c.3525C>A (p.Gly1175=)
c.3045C>A (p.Gly1015=)
12g.47975970C>ACA384537264COL2A1c.3383G>T (p.Gly1128Val)
c.3590G>T (p.Gly1197Val)
n.2676G>T
n.443G>T
c.3734G>T (p.Gly1245Val)
c.3731G>T (p.Gly1244Val)
c.2678G>T (p.Gly893Val)
c.3524G>T (p.Gly1175Val)
c.3044G>T (p.Gly1015Val)
12g.47975970C=CA2034474764COL2A1c.3383G= (p.Gly1128=)
c.3590G= (p.Gly1197=)
n.2676G=
n.443G=
c.3734G= (p.Gly1245=)
c.3731G= (p.Gly1244=)
c.2678G= (p.Gly893=)
c.3524G= (p.Gly1175=)
c.3044G= (p.Gly1015=)
12g.47975970C>GCA384537265COL2A1c.3383G>C (p.Gly1128Ala)
c.3590G>C (p.Gly1197Ala)
n.2676G>C
n.443G>C
c.3734G>C (p.Gly1245Ala)
c.3731G>C (p.Gly1244Ala)
c.2678G>C (p.Gly893Ala)
c.3524G>C (p.Gly1175Ala)
c.3044G>C (p.Gly1015Ala)
 ClinVar dbSNP
12g.47975970C>TCA384537266COL2A1c.3383G>A (p.Gly1128Asp)
c.3590G>A (p.Gly1197Asp)
n.2676G>A
n.443G>A
c.3734G>A (p.Gly1245Asp)
c.3731G>A (p.Gly1244Asp)
c.2678G>A (p.Gly893Asp)
c.3524G>A (p.Gly1175Asp)
c.3044G>A (p.Gly1015Asp)
12g.47975971C>ACA384537267COL2A1c.3382G>T (p.Gly1128Cys)
c.3589G>T (p.Gly1197Cys)
n.2675G>T
n.442G>T
c.3733G>T (p.Gly1245Cys)
c.3730G>T (p.Gly1244Cys)
c.2677G>T (p.Gly893Cys)
c.3523G>T (p.Gly1175Cys)
c.3043G>T (p.Gly1015Cys)
12g.47975971C=CA2034474770COL2A1c.3382G= (p.Gly1128=)
c.3589G= (p.Gly1197=)
n.2675G=
n.442G=
c.3733G= (p.Gly1245=)
c.3730G= (p.Gly1244=)
c.2677G= (p.Gly893=)
c.3523G= (p.Gly1175=)
c.3043G= (p.Gly1015=)
12g.47975971C>GCA384537268COL2A1c.3382G>C (p.Gly1128Arg)
c.3589G>C (p.Gly1197Arg)
n.2675G>C
n.442G>C
c.3733G>C (p.Gly1245Arg)
c.3730G>C (p.Gly1244Arg)
c.2677G>C (p.Gly893Arg)
c.3523G>C (p.Gly1175Arg)
c.3043G>C (p.Gly1015Arg)
 ClinVar dbSNP
12g.47975971C>TCA250671COL2A1c.3382G>A (p.Gly1128Ser)
c.3589G>A (p.Gly1197Ser)
n.2675G>A
n.442G>A
c.3733G>A (p.Gly1245Ser)
c.3730G>A (p.Gly1244Ser)
c.2677G>A (p.Gly893Ser)
c.3523G>A (p.Gly1175Ser)
c.3043G>A (p.Gly1015Ser)
 ClinVar dbSNP
12g.47975972G>ACA479451436COL2A1c.3381C>T (p.Thr1127=)
c.3588C>T (p.Thr1196=)
n.2674C>T
n.441C>T
c.3732C>T (p.Thr1244=)
c.3729C>T (p.Thr1243=)
c.2676C>T (p.Thr892=)
c.3522C>T (p.Thr1174=)
c.3042C>T (p.Thr1014=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47975972G>CCA479451437COL2A1c.3381C>G (p.Thr1127=)
c.3588C>G (p.Thr1196=)
n.2674C>G
n.441C>G
c.3732C>G (p.Thr1244=)
c.3729C>G (p.Thr1243=)
c.2676C>G (p.Thr892=)
c.3522C>G (p.Thr1174=)
c.3042C>G (p.Thr1014=)
12g.47975972G=CA2034474774COL2A1c.3381C= (p.Thr1127=)
c.3588C= (p.Thr1196=)
n.2674C=
n.441C=
c.3732C= (p.Thr1244=)
c.3729C= (p.Thr1243=)
c.2676C= (p.Thr892=)
c.3522C= (p.Thr1174=)
c.3042C= (p.Thr1014=)
12g.47975972G>TCA479451442COL2A1c.3381C>A (p.Thr1127=)
c.3588C>A (p.Thr1196=)
n.2674C>A
n.441C>A
c.3732C>A (p.Thr1244=)
c.3729C>A (p.Thr1243=)
c.2676C>A (p.Thr892=)
c.3522C>A (p.Thr1174=)
c.3042C>A (p.Thr1014=)
 gnomAD v4
12g.47975973G>ACA6534700COL2A1c.3380C>T (p.Thr1127Ile)
c.3587C>T (p.Thr1196Ile)
n.2673C>T
n.440C>T
c.3731C>T (p.Thr1244Ile)
c.3728C>T (p.Thr1243Ile)
c.2675C>T (p.Thr892Ile)
c.3521C>T (p.Thr1174Ile)
c.3041C>T (p.Thr1014Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975973G>CCA384537270COL2A1c.3380C>G (p.Thr1127Ser)
c.3587C>G (p.Thr1196Ser)
n.2673C>G
n.440C>G
c.3731C>G (p.Thr1244Ser)
c.3728C>G (p.Thr1243Ser)
c.2675C>G (p.Thr892Ser)
c.3521C>G (p.Thr1174Ser)
c.3041C>G (p.Thr1014Ser)
12g.47975973G=CA2034474778COL2A1c.3380C= (p.Thr1127=)
c.3587C= (p.Thr1196=)
n.2673C=
n.440C=
c.3731C= (p.Thr1244=)
c.3728C= (p.Thr1243=)
c.2675C= (p.Thr892=)
c.3521C= (p.Thr1174=)
c.3041C= (p.Thr1014=)
12g.47975973G>TCA384537269COL2A1c.3380C>A (p.Thr1127Asn)
c.3587C>A (p.Thr1196Asn)
n.2673C>A
n.440C>A
c.3731C>A (p.Thr1244Asn)
c.3728C>A (p.Thr1243Asn)
c.2675C>A (p.Thr892Asn)
c.3521C>A (p.Thr1174Asn)
c.3041C>A (p.Thr1014Asn)
12g.47975974T>ACA384537271COL2A1c.3379A>T (p.Thr1127Ser)
c.3586A>T (p.Thr1196Ser)
n.2672A>T
n.439A>T
c.3730A>T (p.Thr1244Ser)
c.3727A>T (p.Thr1243Ser)
c.2674A>T (p.Thr892Ser)
c.3520A>T (p.Thr1174Ser)
c.3040A>T (p.Thr1014Ser)
12g.47975974T>CCA384537272COL2A1c.3379A>G (p.Thr1127Ala)
c.3586A>G (p.Thr1196Ala)
n.2672A>G
n.439A>G
c.3730A>G (p.Thr1244Ala)
c.3727A>G (p.Thr1243Ala)
c.2674A>G (p.Thr892Ala)
c.3520A>G (p.Thr1174Ala)
c.3040A>G (p.Thr1014Ala)
12g.47975974T>GCA384537273COL2A1c.3379A>C (p.Thr1127Pro)
c.3586A>C (p.Thr1196Pro)
n.2672A>C
n.439A>C
c.3730A>C (p.Thr1244Pro)
c.3727A>C (p.Thr1243Pro)
c.2674A>C (p.Thr892Pro)
c.3520A>C (p.Thr1174Pro)
c.3040A>C (p.Thr1014Pro)
12g.47975975T>ACA384537274COL2A1c.3378A>T (p.Glu1126Asp)
c.3585A>T (p.Glu1195Asp)
n.2671A>T
n.438A>T
c.3729A>T (p.Glu1243Asp)
c.3726A>T (p.Glu1242Asp)
c.2673A>T (p.Glu891Asp)
c.3519A>T (p.Glu1173Asp)
c.3039A>T (p.Glu1013Asp)
12g.47975975T>CCA479451447COL2A1c.3378A>G (p.Glu1126=)
c.3585A>G (p.Glu1195=)
n.2671A>G
n.438A>G
c.3729A>G (p.Glu1243=)
c.3726A>G (p.Glu1242=)
c.2673A>G (p.Glu891=)
c.3519A>G (p.Glu1173=)
c.3039A>G (p.Glu1013=)
 ClinVar
12g.47975975T>GCA384537275COL2A1c.3378A>C (p.Glu1126Asp)
c.3585A>C (p.Glu1195Asp)
n.2671A>C
n.438A>C
c.3729A>C (p.Glu1243Asp)
c.3726A>C (p.Glu1242Asp)
c.2673A>C (p.Glu891Asp)
c.3519A>C (p.Glu1173Asp)
c.3039A>C (p.Glu1013Asp)
12g.47975976T>ACA384537276COL2A1c.3377A>T (p.Glu1126Val)
c.3584A>T (p.Glu1195Val)
n.2670A>T
n.437A>T
c.3728A>T (p.Glu1243Val)
c.3725A>T (p.Glu1242Val)
c.2672A>T (p.Glu891Val)
c.3518A>T (p.Glu1173Val)
c.3038A>T (p.Glu1013Val)
12g.47975976T>CCA384537277COL2A1c.3377A>G (p.Glu1126Gly)
c.3584A>G (p.Glu1195Gly)
n.2670A>G
n.437A>G
c.3728A>G (p.Glu1243Gly)
c.3725A>G (p.Glu1242Gly)
c.2672A>G (p.Glu891Gly)
c.3518A>G (p.Glu1173Gly)
c.3038A>G (p.Glu1013Gly)
12g.47975976T>GCA384537278COL2A1c.3377A>C (p.Glu1126Ala)
c.3584A>C (p.Glu1195Ala)
n.2670A>C
n.437A>C
c.3728A>C (p.Glu1243Ala)
c.3725A>C (p.Glu1242Ala)
c.2672A>C (p.Glu891Ala)
c.3518A>C (p.Glu1173Ala)
c.3038A>C (p.Glu1013Ala)
12g.47975977C>ACA384537279COL2A1c.3376G>T (p.Glu1126Ter)
c.3583G>T (p.Glu1195Ter)
n.2669G>T
n.436G>T
c.3727G>T (p.Glu1243Ter)
c.3724G>T (p.Glu1242Ter)
c.2671G>T (p.Glu891Ter)
c.3517G>T (p.Glu1173Ter)
c.3037G>T (p.Glu1013Ter)
12g.47975977C=CA2034474782COL2A1c.3376G= (p.Glu1126=)
c.3583G= (p.Glu1195=)
n.2669G=
n.436G=
c.3727G= (p.Glu1243=)
c.3724G= (p.Glu1242=)
c.2671G= (p.Glu891=)
c.3517G= (p.Glu1173=)
c.3037G= (p.Glu1013=)
12g.47975977C>GCA384537280COL2A1c.3376G>C (p.Glu1126Gln)
c.3583G>C (p.Glu1195Gln)
n.2669G>C
n.436G>C
c.3727G>C (p.Glu1243Gln)
c.3724G>C (p.Glu1242Gln)
c.2671G>C (p.Glu891Gln)
c.3517G>C (p.Glu1173Gln)
c.3037G>C (p.Glu1013Gln)
12g.47975977C>TCA384537281COL2A1c.3376G>A (p.Glu1126Lys)
c.3583G>A (p.Glu1195Lys)
n.2669G>A
n.436G>A
c.3727G>A (p.Glu1243Lys)
c.3724G>A (p.Glu1242Lys)
c.2671G>A (p.Glu891Lys)
c.3517G>A (p.Glu1173Lys)
c.3037G>A (p.Glu1013Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47975978G>ACA6534701COL2A1c.3375C>T (p.Gly1125=)
c.3582C>T (p.Gly1194=)
n.2668C>T
n.435C>T
c.3726C>T (p.Gly1242=)
c.3723C>T (p.Gly1241=)
c.2670C>T (p.Gly890=)
c.3516C>T (p.Gly1172=)
c.3036C>T (p.Gly1012=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975978G>CCA479451454COL2A1c.3375C>G (p.Gly1125=)
c.3582C>G (p.Gly1194=)
n.2668C>G
n.435C>G
c.3726C>G (p.Gly1242=)
c.3723C>G (p.Gly1241=)
c.2670C>G (p.Gly890=)
c.3516C>G (p.Gly1172=)
c.3036C>G (p.Gly1012=)
 ClinVar dbSNP
12g.47975978G=CA2034474786COL2A1c.3375C= (p.Gly1125=)
c.3582C= (p.Gly1194=)
n.2668C=
n.435C=
c.3726C= (p.Gly1242=)
c.3723C= (p.Gly1241=)
c.2670C= (p.Gly890=)
c.3516C= (p.Gly1172=)
c.3036C= (p.Gly1012=)
12g.47975978G>TCA479451456COL2A1c.3375C>A (p.Gly1125=)
c.3582C>A (p.Gly1194=)
n.2668C>A
n.435C>A
c.3726C>A (p.Gly1242=)
c.3723C>A (p.Gly1241=)
c.2670C>A (p.Gly890=)
c.3516C>A (p.Gly1172=)
c.3036C>A (p.Gly1012=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47975979C>ACA384537284COL2A1c.3374G>T (p.Gly1125Val)
c.3581G>T (p.Gly1194Val)
n.2667G>T
n.434G>T
c.3725G>T (p.Gly1242Val)
c.3722G>T (p.Gly1241Val)
c.2669G>T (p.Gly890Val)
c.3515G>T (p.Gly1172Val)
c.3035G>T (p.Gly1012Val)
12g.47975979C>GCA384537282COL2A1c.3374G>C (p.Gly1125Ala)
c.3581G>C (p.Gly1194Ala)
n.2667G>C
n.434G>C
c.3725G>C (p.Gly1242Ala)
c.3722G>C (p.Gly1241Ala)
c.2669G>C (p.Gly890Ala)
c.3515G>C (p.Gly1172Ala)
c.3035G>C (p.Gly1012Ala)
12g.47975979C>TCA384537283COL2A1c.3374G>A (p.Gly1125Asp)
c.3581G>A (p.Gly1194Asp)
n.2667G>A
n.434G>A
c.3725G>A (p.Gly1242Asp)
c.3722G>A (p.Gly1241Asp)
c.2669G>A (p.Gly890Asp)
c.3515G>A (p.Gly1172Asp)
c.3035G>A (p.Gly1012Asp)
12g.47975980C>ACA384537285COL2A1c.3373G>T (p.Gly1125Cys)
c.3580G>T (p.Gly1194Cys)
n.2666G>T
n.433G>T
c.3724G>T (p.Gly1242Cys)
c.3721G>T (p.Gly1241Cys)
c.2668G>T (p.Gly890Cys)
c.3514G>T (p.Gly1172Cys)
c.3034G>T (p.Gly1012Cys)
12g.47975980C>GCA384537286COL2A1c.3373G>C (p.Gly1125Arg)
c.3580G>C (p.Gly1194Arg)
n.2666G>C
n.433G>C
c.3724G>C (p.Gly1242Arg)
c.3721G>C (p.Gly1241Arg)
c.2668G>C (p.Gly890Arg)
c.3514G>C (p.Gly1172Arg)
c.3034G>C (p.Gly1012Arg)
12g.47975980C>TCA384537287COL2A1c.3373G>A (p.Gly1125Ser)
c.3580G>A (p.Gly1194Ser)
n.2666G>A
n.433G>A
c.3724G>A (p.Gly1242Ser)
c.3721G>A (p.Gly1241Ser)
c.2668G>A (p.Gly890Ser)
c.3514G>A (p.Gly1172Ser)
c.3034G>A (p.Gly1012Ser)
12g.47975981T>ACA479451460COL2A1c.3372A>T (p.Ser1124=)
c.3579A>T (p.Ser1193=)
n.2665A>T
n.432A>T
c.3723A>T (p.Ser1241=)
c.3720A>T (p.Ser1240=)
c.2667A>T (p.Ser889=)
c.3513A>T (p.Ser1171=)
c.3033A>T (p.Ser1011=)
12g.47975981T>CCA6534702COL2A1c.3372A>G (p.Ser1124=)
c.3579A>G (p.Ser1193=)
n.2665A>G
n.432A>G
c.3723A>G (p.Ser1241=)
c.3720A>G (p.Ser1240=)
c.2667A>G (p.Ser889=)
c.3513A>G (p.Ser1171=)
c.3033A>G (p.Ser1011=)
 dbSNP ExAC gnomAD v2
12g.47975981T>GCA479451463COL2A1c.3372A>C (p.Ser1124=)
c.3579A>C (p.Ser1193=)
n.2665A>C
n.432A>C
c.3723A>C (p.Ser1241=)
c.3720A>C (p.Ser1240=)
c.2667A>C (p.Ser889=)
c.3513A>C (p.Ser1171=)
c.3033A>C (p.Ser1011=)
12g.47975981T=CA2034474792COL2A1c.3372A= (p.Ser1124=)
c.3579A= (p.Ser1193=)
n.2665A=
n.432A=
c.3723A= (p.Ser1241=)
c.3720A= (p.Ser1240=)
c.2667A= (p.Ser889=)
c.3513A= (p.Ser1171=)
c.3033A= (p.Ser1011=)
12g.47975982G>ACA6534703COL2A1c.3371C>T (p.Ser1124Leu)
c.3578C>T (p.Ser1193Leu)
n.2664C>T
n.431C>T
c.3722C>T (p.Ser1241Leu)
c.3719C>T (p.Ser1240Leu)
c.2666C>T (p.Ser889Leu)
c.3512C>T (p.Ser1171Leu)
c.3032C>T (p.Ser1011Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975982G>CCA384537288COL2A1c.3371C>G (p.Ser1124Ter)
c.3578C>G (p.Ser1193Ter)
n.2664C>G
n.431C>G
c.3722C>G (p.Ser1241Ter)
c.3719C>G (p.Ser1240Ter)
c.2666C>G (p.Ser889Ter)
c.3512C>G (p.Ser1171Ter)
c.3032C>G (p.Ser1011Ter)
12g.47975982G=CA2034474796COL2A1c.3371C= (p.Ser1124=)
c.3578C= (p.Ser1193=)
n.2664C=
n.431C=
c.3722C= (p.Ser1241=)
c.3719C= (p.Ser1240=)
c.2666C= (p.Ser889=)
c.3512C= (p.Ser1171=)
c.3032C= (p.Ser1011=)
12g.47975982G>TCA384537289COL2A1c.3371C>A (p.Ser1124Ter)
c.3578C>A (p.Ser1193Ter)
n.2664C>A
n.431C>A
c.3722C>A (p.Ser1241Ter)
c.3719C>A (p.Ser1240Ter)
c.2666C>A (p.Ser889Ter)
c.3512C>A (p.Ser1171Ter)
c.3032C>A (p.Ser1011Ter)
12g.47975983A>CCA384537290COL2A1c.3370T>G (p.Ser1124Ala)
c.3577T>G (p.Ser1193Ala)
n.2663T>G
n.430T>G
c.3721T>G (p.Ser1241Ala)
c.3718T>G (p.Ser1240Ala)
c.2665T>G (p.Ser889Ala)
c.3511T>G (p.Ser1171Ala)
c.3031T>G (p.Ser1011Ala)
12g.47975983A>GCA384537291COL2A1c.3370T>C (p.Ser1124Pro)
c.3577T>C (p.Ser1193Pro)
n.2663T>C
n.430T>C
c.3721T>C (p.Ser1241Pro)
c.3718T>C (p.Ser1240Pro)
c.2665T>C (p.Ser889Pro)
c.3511T>C (p.Ser1171Pro)
c.3031T>C (p.Ser1011Pro)
12g.47975983A>TCA384537292COL2A1c.3370T>A (p.Ser1124Thr)
c.3577T>A (p.Ser1193Thr)
n.2663T>A
n.430T>A
c.3721T>A (p.Ser1241Thr)
c.3718T>A (p.Ser1240Thr)
c.2665T>A (p.Ser889Thr)
c.3511T>A (p.Ser1171Thr)
c.3031T>A (p.Ser1011Thr)
12g.47975984T>ACA479451470COL2A1c.3369A>T (p.Arg1123=)
c.3576A>T (p.Arg1192=)
n.2662A>T
n.429A>T
c.3720A>T (p.Arg1240=)
c.3717A>T (p.Arg1239=)
c.2664A>T (p.Arg888=)
c.3510A>T (p.Arg1170=)
c.3030A>T (p.Arg1010=)
12g.47975984T>CCA479451471COL2A1c.3369A>G (p.Arg1123=)
c.3576A>G (p.Arg1192=)
n.2662A>G
n.429A>G
c.3720A>G (p.Arg1240=)
c.3717A>G (p.Arg1239=)
c.2664A>G (p.Arg888=)
c.3510A>G (p.Arg1170=)
c.3030A>G (p.Arg1010=)
12g.47975984T>GCA479451473COL2A1c.3369A>C (p.Arg1123=)
c.3576A>C (p.Arg1192=)
n.2662A>C
n.429A>C
c.3720A>C (p.Arg1240=)
c.3717A>C (p.Arg1239=)
c.2664A>C (p.Arg888=)
c.3510A>C (p.Arg1170=)
c.3030A>C (p.Arg1010=)
12g.47975984_47975986delinsGCACA2695216624COL2A1c.3367_3369delinsTGC (p.Arg1123Cys)
c.3574_3576delinsTGC (p.Arg1192Cys)
n.2660_2662delinsTGC
n.427_429delinsTGC
c.3718_3720delinsTGC (p.Arg1240Cys)
c.3715_3717delinsTGC (p.Arg1239Cys)
c.2662_2664delinsTGC (p.Arg888Cys)
c.3508_3510delinsTGC (p.Arg1170Cys)
c.3028_3030delinsTGC (p.Arg1010Cys)
12g.47975985C>ACA384537294COL2A1c.3368G>T (p.Arg1123Leu)
c.3575G>T (p.Arg1192Leu)
n.2661G>T
n.428G>T
c.3719G>T (p.Arg1240Leu)
c.3716G>T (p.Arg1239Leu)
c.2663G>T (p.Arg888Leu)
c.3509G>T (p.Arg1170Leu)
c.3029G>T (p.Arg1010Leu)
 gnomAD v4
12g.47975985C=CA2034474804COL2A1c.3368G= (p.Arg1123=)
c.3575G= (p.Arg1192=)
n.2661G=
n.428G=
c.3719G= (p.Arg1240=)
c.3716G= (p.Arg1239=)
c.2663G= (p.Arg888=)
c.3509G= (p.Arg1170=)
c.3029G= (p.Arg1010=)
12g.47975985C>GCA384537293COL2A1c.3368G>C (p.Arg1123Pro)
c.3575G>C (p.Arg1192Pro)
n.2661G>C
n.428G>C
c.3719G>C (p.Arg1240Pro)
c.3716G>C (p.Arg1239Pro)
c.2663G>C (p.Arg888Pro)
c.3509G>C (p.Arg1170Pro)
c.3029G>C (p.Arg1010Pro)
12g.47975985C>TCA6534704COL2A1c.3368G>A (p.Arg1123Gln)
c.3575G>A (p.Arg1192Gln)
n.2661G>A
n.428G>A
c.3719G>A (p.Arg1240Gln)
c.3716G>A (p.Arg1239Gln)
c.2663G>A (p.Arg888Gln)
c.3509G>A (p.Arg1170Gln)
c.3029G>A (p.Arg1010Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975986G>ACA10604522COL2A1c.3367C>T (p.Arg1123Ter)
c.3574C>T (p.Arg1192Ter)
n.2660C>T
n.427C>T
c.3718C>T (p.Arg1240Ter)
c.3715C>T (p.Arg1239Ter)
c.2662C>T (p.Arg888Ter)
c.3508C>T (p.Arg1170Ter)
c.3028C>T (p.Arg1010Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47975986G>CCA384537295COL2A1c.3367C>G (p.Arg1123Gly)
c.3574C>G (p.Arg1192Gly)
n.2660C>G
n.427C>G
c.3718C>G (p.Arg1240Gly)
c.3715C>G (p.Arg1239Gly)
c.2662C>G (p.Arg888Gly)
c.3508C>G (p.Arg1170Gly)
c.3028C>G (p.Arg1010Gly)
 dbSNP
12g.47975986G=CA2034474810COL2A1c.3367C= (p.Arg1123=)
c.3574C= (p.Arg1192=)
n.2660C=
n.427C=
c.3718C= (p.Arg1240=)
c.3715C= (p.Arg1239=)
c.2662C= (p.Arg888=)
c.3508C= (p.Arg1170=)
c.3028C= (p.Arg1010=)
12g.47975986G>TCA479451479COL2A1c.3367C>A (p.Arg1123=)
c.3574C>A (p.Arg1192=)
n.2660C>A
n.427C>A
c.3718C>A (p.Arg1240=)
c.3715C>A (p.Arg1239=)
c.2662C>A (p.Arg888=)
c.3508C>A (p.Arg1170=)
c.3028C>A (p.Arg1010=)
12g.47975987T>ACA479451480COL2A1c.3366A>T (p.Gly1122=)
c.3573A>T (p.Gly1191=)
n.2659A>T
n.426A>T
c.3717A>T (p.Gly1239=)
c.3714A>T (p.Gly1238=)
c.2661A>T (p.Gly887=)
c.3507A>T (p.Gly1169=)
c.3027A>T (p.Gly1009=)
12g.47975987T>CCA479451481COL2A1c.3366A>G (p.Gly1122=)
c.3573A>G (p.Gly1191=)
n.2659A>G
n.426A>G
c.3717A>G (p.Gly1239=)
c.3714A>G (p.Gly1238=)
c.2661A>G (p.Gly887=)
c.3507A>G (p.Gly1169=)
c.3027A>G (p.Gly1009=)
 gnomAD v4
12g.47975987T>GCA479451482COL2A1c.3366A>C (p.Gly1122=)
c.3573A>C (p.Gly1191=)
n.2659A>C
n.426A>C
c.3717A>C (p.Gly1239=)
c.3714A>C (p.Gly1238=)
c.2661A>C (p.Gly887=)
c.3507A>C (p.Gly1169=)
c.3027A>C (p.Gly1009=)
12g.47975988C>ACA384537296COL2A1c.3365G>T (p.Gly1122Val)
c.3572G>T (p.Gly1191Val)
n.2658G>T
n.425G>T
c.3716G>T (p.Gly1239Val)
c.3713G>T (p.Gly1238Val)
c.2660G>T (p.Gly887Val)
c.3506G>T (p.Gly1169Val)
c.3026G>T (p.Gly1009Val)
12g.47975988C>GCA384537297COL2A1c.3365G>C (p.Gly1122Ala)
c.3572G>C (p.Gly1191Ala)
n.2658G>C
n.425G>C
c.3716G>C (p.Gly1239Ala)
c.3713G>C (p.Gly1238Ala)
c.2660G>C (p.Gly887Ala)
c.3506G>C (p.Gly1169Ala)
c.3026G>C (p.Gly1009Ala)
12g.47975988C>TCA384537298COL2A1c.3365G>A (p.Gly1122Glu)
c.3572G>A (p.Gly1191Glu)
n.2658G>A
n.425G>A
c.3716G>A (p.Gly1239Glu)
c.3713G>A (p.Gly1238Glu)
c.2660G>A (p.Gly887Glu)
c.3506G>A (p.Gly1169Glu)
c.3026G>A (p.Gly1009Glu)
12g.47975989C>ACA384537301COL2A1c.3364G>T (p.Gly1122Ter)
c.3571G>T (p.Gly1191Ter)
n.2657G>T
n.424G>T
c.3715G>T (p.Gly1239Ter)
c.3712G>T (p.Gly1238Ter)
c.2659G>T (p.Gly887Ter)
c.3505G>T (p.Gly1169Ter)
c.3025G>T (p.Gly1009Ter)
12g.47975989C>GCA384537300COL2A1c.3364G>C (p.Gly1122Arg)
c.3571G>C (p.Gly1191Arg)
n.2657G>C
n.424G>C
c.3715G>C (p.Gly1239Arg)
c.3712G>C (p.Gly1238Arg)
c.2659G>C (p.Gly887Arg)
c.3505G>C (p.Gly1169Arg)
c.3025G>C (p.Gly1009Arg)
12g.47975989C>TCA384537299COL2A1c.3364G>A (p.Gly1122Arg)
c.3571G>A (p.Gly1191Arg)
n.2657G>A
n.424G>A
c.3715G>A (p.Gly1239Arg)
c.3712G>A (p.Gly1238Arg)
c.2659G>A (p.Gly887Arg)
c.3505G>A (p.Gly1169Arg)
c.3025G>A (p.Gly1009Arg)
12g.47975990A=CA2034474819COL2A1c.3363T= (p.Arg1121=)
c.3570T= (p.Arg1190=)
n.2656T=
n.423T=
c.3714T= (p.Arg1238=)
c.3711T= (p.Arg1237=)
c.2658T= (p.Arg886=)
c.3504T= (p.Arg1168=)
c.3024T= (p.Arg1008=)
12g.47975990A>CCA479451487COL2A1c.3363T>G (p.Arg1121=)
c.3570T>G (p.Arg1190=)
n.2656T>G
n.423T>G
c.3714T>G (p.Arg1238=)
c.3711T>G (p.Arg1237=)
c.2658T>G (p.Arg886=)
c.3504T>G (p.Arg1168=)
c.3024T>G (p.Arg1008=)
 dbSNP
12g.47975990A>GCA479451489COL2A1c.3363T>C (p.Arg1121=)
c.3570T>C (p.Arg1190=)
n.2656T>C
n.423T>C
c.3714T>C (p.Arg1238=)
c.3711T>C (p.Arg1237=)
c.2658T>C (p.Arg886=)
c.3504T>C (p.Arg1168=)
c.3024T>C (p.Arg1008=)
12g.47975990A>TCA479451490COL2A1c.3363T>A (p.Arg1121=)
c.3570T>A (p.Arg1190=)
n.2656T>A
n.423T>A
c.3714T>A (p.Arg1238=)
c.3711T>A (p.Arg1237=)
c.2658T>A (p.Arg886=)
c.3504T>A (p.Arg1168=)
c.3024T>A (p.Arg1008=)
12g.47975991C>ACA384537302COL2A1c.3362G>T (p.Arg1121Leu)
c.3569G>T (p.Arg1190Leu)
n.2655G>T
n.422G>T
c.3713G>T (p.Arg1238Leu)
c.3710G>T (p.Arg1237Leu)
c.2657G>T (p.Arg886Leu)
c.3503G>T (p.Arg1168Leu)
c.3023G>T (p.Arg1008Leu)
 dbSNP
12g.47975991C=CA2034474827COL2A1c.3362G= (p.Arg1121=)
c.3569G= (p.Arg1190=)
n.2655G=
n.422G=
c.3713G= (p.Arg1238=)
c.3710G= (p.Arg1237=)
c.2657G= (p.Arg886=)
c.3503G= (p.Arg1168=)
c.3023G= (p.Arg1008=)
12g.47975991C>GCA384537303COL2A1c.3362G>C (p.Arg1121Pro)
c.3569G>C (p.Arg1190Pro)
n.2655G>C
n.422G>C
c.3713G>C (p.Arg1238Pro)
c.3710G>C (p.Arg1237Pro)
c.2657G>C (p.Arg886Pro)
c.3503G>C (p.Arg1168Pro)
c.3023G>C (p.Arg1008Pro)
12g.47975991C>TCA6534705COL2A1c.3362G>A (p.Arg1121His)
c.3569G>A (p.Arg1190His)
n.2655G>A
n.422G>A
c.3713G>A (p.Arg1238His)
c.3710G>A (p.Arg1237His)
c.2657G>A (p.Arg886His)
c.3503G>A (p.Arg1168His)
c.3023G>A (p.Arg1008His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975992G>ACA384537304COL2A1c.3361C>T (p.Arg1121Cys)
c.3568C>T (p.Arg1190Cys)
n.2654C>T
n.421C>T
c.3712C>T (p.Arg1238Cys)
c.3709C>T (p.Arg1237Cys)
c.2656C>T (p.Arg886Cys)
c.3502C>T (p.Arg1168Cys)
c.3022C>T (p.Arg1008Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975992G>CCA384537305COL2A1c.3361C>G (p.Arg1121Gly)
c.3568C>G (p.Arg1190Gly)
n.2654C>G
n.421C>G
c.3712C>G (p.Arg1238Gly)
c.3709C>G (p.Arg1237Gly)
c.2656C>G (p.Arg886Gly)
c.3502C>G (p.Arg1168Gly)
c.3022C>G (p.Arg1008Gly)
12g.47975992G=CA2034474831COL2A1c.3361C= (p.Arg1121=)
c.3568C= (p.Arg1190=)
n.2654C=
n.421C=
c.3712C= (p.Arg1238=)
c.3709C= (p.Arg1237=)
c.2656C= (p.Arg886=)
c.3502C= (p.Arg1168=)
c.3022C= (p.Arg1008=)
12g.47975992G>TCA384537306COL2A1c.3361C>A (p.Arg1121Ser)
c.3568C>A (p.Arg1190Ser)
n.2654C>A
n.421C>A
c.3712C>A (p.Arg1238Ser)
c.3709C>A (p.Arg1237Ser)
c.2656C>A (p.Arg886Ser)
c.3502C>A (p.Arg1168Ser)
c.3022C>A (p.Arg1008Ser)
12g.47975993G>ACA479451498COL2A1c.3360C>T (p.Pro1120=)
c.3567C>T (p.Pro1189=)
n.2653C>T
n.420C>T
c.3711C>T (p.Pro1237=)
c.3708C>T (p.Pro1236=)
c.2655C>T (p.Pro885=)
c.3501C>T (p.Pro1167=)
c.3021C>T (p.Pro1007=)
12g.47975993G>CCA479451499COL2A1c.3360C>G (p.Pro1120=)
c.3567C>G (p.Pro1189=)
n.2653C>G
n.420C>G
c.3711C>G (p.Pro1237=)
c.3708C>G (p.Pro1236=)
c.2655C>G (p.Pro885=)
c.3501C>G (p.Pro1167=)
c.3021C>G (p.Pro1007=)
12g.47975993G>TCA479451500COL2A1c.3360C>A (p.Pro1120=)
c.3567C>A (p.Pro1189=)
n.2653C>A
n.420C>A
c.3711C>A (p.Pro1237=)
c.3708C>A (p.Pro1236=)
c.2655C>A (p.Pro885=)
c.3501C>A (p.Pro1167=)
c.3021C>A (p.Pro1007=)
12g.47975994G>ACA384537307COL2A1c.3359C>T (p.Pro1120Leu)
c.3566C>T (p.Pro1189Leu)
n.2652C>T
n.419C>T
c.3710C>T (p.Pro1237Leu)
c.3707C>T (p.Pro1236Leu)
c.2654C>T (p.Pro885Leu)
c.3500C>T (p.Pro1167Leu)
c.3020C>T (p.Pro1007Leu)
12g.47975994G>CCA384537308COL2A1c.3359C>G (p.Pro1120Arg)
c.3566C>G (p.Pro1189Arg)
n.2652C>G
n.419C>G
c.3710C>G (p.Pro1237Arg)
c.3707C>G (p.Pro1236Arg)
c.2654C>G (p.Pro885Arg)
c.3500C>G (p.Pro1167Arg)
c.3020C>G (p.Pro1007Arg)
12g.47975994G=CA2034474836COL2A1c.3359C= (p.Pro1120=)
c.3566C= (p.Pro1189=)
n.2652C=
n.419C=
c.3710C= (p.Pro1237=)
c.3707C= (p.Pro1236=)
c.2654C= (p.Pro885=)
c.3500C= (p.Pro1167=)
c.3020C= (p.Pro1007=)
12g.47975994G>TCA16606285COL2A1c.3359C>A (p.Pro1120His)
c.3566C>A (p.Pro1189His)
n.2652C>A
n.419C>A
c.3710C>A (p.Pro1237His)
c.3707C>A (p.Pro1236His)
c.2654C>A (p.Pro885His)
c.3500C>A (p.Pro1167His)
c.3020C>A (p.Pro1007His)
 ClinVar dbSNP gnomAD v4
12g.47975995G>ACA6534707COL2A1c.3358C>T (p.Pro1120Ser)
c.3565C>T (p.Pro1189Ser)
n.2651C>T
n.418C>T
c.3709C>T (p.Pro1237Ser)
c.3706C>T (p.Pro1236Ser)
c.2653C>T (p.Pro885Ser)
c.3499C>T (p.Pro1167Ser)
c.3019C>T (p.Pro1007Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975995G>CCA384537309COL2A1c.3358C>G (p.Pro1120Ala)
c.3565C>G (p.Pro1189Ala)
n.2651C>G
n.418C>G
c.3709C>G (p.Pro1237Ala)
c.3706C>G (p.Pro1236Ala)
c.2653C>G (p.Pro885Ala)
c.3499C>G (p.Pro1167Ala)
c.3019C>G (p.Pro1007Ala)
12g.47975995G=CA2034474840COL2A1c.3358C= (p.Pro1120=)
c.3565C= (p.Pro1189=)
n.2651C=
n.418C=
c.3709C= (p.Pro1237=)
c.3706C= (p.Pro1236=)
c.2653C= (p.Pro885=)
c.3499C= (p.Pro1167=)
c.3019C= (p.Pro1007=)
12g.47975995G>TCA6534706COL2A1c.3358C>A (p.Pro1120Thr)
c.3565C>A (p.Pro1189Thr)
n.2651C>A
n.418C>A
c.3709C>A (p.Pro1237Thr)
c.3706C>A (p.Pro1236Thr)
c.2653C>A (p.Pro885Thr)
c.3499C>A (p.Pro1167Thr)
c.3019C>A (p.Pro1007Thr)
 dbSNP ExAC gnomAD v2
12g.47975996A>CCA479451507COL2A1c.3357T>G (p.Gly1119=)
c.3564T>G (p.Gly1188=)
n.2650T>G
n.417T>G
c.3708T>G (p.Gly1236=)
c.3705T>G (p.Gly1235=)
c.2652T>G (p.Gly884=)
c.3498T>G (p.Gly1166=)
c.3018T>G (p.Gly1006=)
12g.47975996A>GCA479451509COL2A1c.3357T>C (p.Gly1119=)
c.3564T>C (p.Gly1188=)
n.2650T>C
n.417T>C
c.3708T>C (p.Gly1236=)
c.3705T>C (p.Gly1235=)
c.2652T>C (p.Gly884=)
c.3498T>C (p.Gly1166=)
c.3018T>C (p.Gly1006=)
12g.47975996A>TCA479451510COL2A1c.3357T>A (p.Gly1119=)
c.3564T>A (p.Gly1188=)
n.2650T>A
n.417T>A
c.3708T>A (p.Gly1236=)
c.3705T>A (p.Gly1235=)
c.2652T>A (p.Gly884=)
c.3498T>A (p.Gly1166=)
c.3018T>A (p.Gly1006=)
12g.47975997C>ACA384537310COL2A1c.3356G>T (p.Gly1119Val)
c.3563G>T (p.Gly1188Val)
n.2649G>T
n.416G>T
c.3707G>T (p.Gly1236Val)
c.3704G>T (p.Gly1235Val)
c.2651G>T (p.Gly884Val)
c.3497G>T (p.Gly1166Val)
c.3017G>T (p.Gly1006Val)
12g.47975997C=CA2034474846COL2A1c.3356G= (p.Gly1119=)
c.3563G= (p.Gly1188=)
n.2649G=
n.416G=
c.3707G= (p.Gly1236=)
c.3704G= (p.Gly1235=)
c.2651G= (p.Gly884=)
c.3497G= (p.Gly1166=)
c.3017G= (p.Gly1006=)
12g.47975997C>GCA384537311COL2A1c.3356G>C (p.Gly1119Ala)
c.3563G>C (p.Gly1188Ala)
n.2649G>C
n.416G>C
c.3707G>C (p.Gly1236Ala)
c.3704G>C (p.Gly1235Ala)
c.2651G>C (p.Gly884Ala)
c.3497G>C (p.Gly1166Ala)
c.3017G>C (p.Gly1006Ala)
 ClinVar dbSNP
12g.47975997C>TCA384537312COL2A1c.3356G>A (p.Gly1119Asp)
c.3563G>A (p.Gly1188Asp)
n.2649G>A
n.416G>A
c.3707G>A (p.Gly1236Asp)
c.3704G>A (p.Gly1235Asp)
c.2651G>A (p.Gly884Asp)
c.3497G>A (p.Gly1166Asp)
c.3017G>A (p.Gly1006Asp)
12g.47975998C>ACA384537313COL2A1c.3355G>T (p.Gly1119Cys)
c.3562G>T (p.Gly1188Cys)
n.2648G>T
n.415G>T
c.3706G>T (p.Gly1236Cys)
c.3703G>T (p.Gly1235Cys)
c.2650G>T (p.Gly884Cys)
c.3496G>T (p.Gly1166Cys)
c.3016G>T (p.Gly1006Cys)
12g.47975998C>GCA384537314COL2A1c.3355G>C (p.Gly1119Arg)
c.3562G>C (p.Gly1188Arg)
n.2648G>C
n.415G>C
c.3706G>C (p.Gly1236Arg)
c.3703G>C (p.Gly1235Arg)
c.2650G>C (p.Gly884Arg)
c.3496G>C (p.Gly1166Arg)
c.3016G>C (p.Gly1006Arg)
12g.47975998C>TCA384537315COL2A1c.3355G>A (p.Gly1119Ser)
c.3562G>A (p.Gly1188Ser)
n.2648G>A
n.415G>A
c.3706G>A (p.Gly1236Ser)
c.3703G>A (p.Gly1235Ser)
c.2650G>A (p.Gly884Ser)
c.3496G>A (p.Gly1166Ser)
c.3016G>A (p.Gly1006Ser)
12g.47975999A=CA2034474854COL2A1c.3354T= (p.Pro1118=)
c.3561T= (p.Pro1187=)
n.2647T=
n.414T=
c.3705T= (p.Pro1235=)
c.3702T= (p.Pro1234=)
c.2649T= (p.Pro883=)
c.3495T= (p.Pro1165=)
c.3015T= (p.Pro1005=)
12g.47975999A>CCA6534708COL2A1c.3354T>G (p.Pro1118=)
c.3561T>G (p.Pro1187=)
n.2647T>G
n.414T>G
c.3705T>G (p.Pro1235=)
c.3702T>G (p.Pro1234=)
c.2649T>G (p.Pro883=)
c.3495T>G (p.Pro1165=)
c.3015T>G (p.Pro1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975999A>GCA479451513COL2A1c.3354T>C (p.Pro1118=)
c.3561T>C (p.Pro1187=)
n.2647T>C
n.414T>C
c.3705T>C (p.Pro1235=)
c.3702T>C (p.Pro1234=)
c.2649T>C (p.Pro883=)
c.3495T>C (p.Pro1165=)
c.3015T>C (p.Pro1005=)
12g.47975999A>TCA479451512COL2A1c.3354T>A (p.Pro1118=)
c.3561T>A (p.Pro1187=)
n.2647T>A
n.414T>A
c.3705T>A (p.Pro1235=)
c.3702T>A (p.Pro1234=)
c.2649T>A (p.Pro883=)
c.3495T>A (p.Pro1165=)
c.3015T>A (p.Pro1005=)
12g.47976000G>ACA384537318COL2A1c.3353C>T (p.Pro1118Leu)
c.3560C>T (p.Pro1187Leu)
n.2646C>T
n.413C>T
c.3704C>T (p.Pro1235Leu)
c.3701C>T (p.Pro1234Leu)
c.2648C>T (p.Pro883Leu)
c.3494C>T (p.Pro1165Leu)
c.3014C>T (p.Pro1005Leu)
12g.47976000G>CCA384537317COL2A1c.3353C>G (p.Pro1118Arg)
c.3560C>G (p.Pro1187Arg)
n.2646C>G
n.413C>G
c.3704C>G (p.Pro1235Arg)
c.3701C>G (p.Pro1234Arg)
c.2648C>G (p.Pro883Arg)
c.3494C>G (p.Pro1165Arg)
c.3014C>G (p.Pro1005Arg)
 ClinVar dbSNP gnomAD v4
12g.47976000G=CA2034474859COL2A1c.3353C= (p.Pro1118=)
c.3560C= (p.Pro1187=)
n.2646C=
n.413C=
c.3704C= (p.Pro1235=)
c.3701C= (p.Pro1234=)
c.2648C= (p.Pro883=)
c.3494C= (p.Pro1165=)
c.3014C= (p.Pro1005=)
12g.47976000G>TCA384537316COL2A1c.3353C>A (p.Pro1118His)
c.3560C>A (p.Pro1187His)
n.2646C>A
n.413C>A
c.3704C>A (p.Pro1235His)
c.3701C>A (p.Pro1234His)
c.2648C>A (p.Pro883His)
c.3494C>A (p.Pro1165His)
c.3014C>A (p.Pro1005His)
12g.47976001G>ACA384537319COL2A1c.3352C>T (p.Pro1118Ser)
c.3559C>T (p.Pro1187Ser)
n.2645C>T
n.412C>T
c.3703C>T (p.Pro1235Ser)
c.3700C>T (p.Pro1234Ser)
c.2647C>T (p.Pro883Ser)
c.3493C>T (p.Pro1165Ser)
c.3013C>T (p.Pro1005Ser)
12g.47976001G>CCA384537321COL2A1c.3352C>G (p.Pro1118Ala)
c.3559C>G (p.Pro1187Ala)
n.2645C>G
n.412C>G
c.3703C>G (p.Pro1235Ala)
c.3700C>G (p.Pro1234Ala)
c.2647C>G (p.Pro883Ala)
c.3493C>G (p.Pro1165Ala)
c.3013C>G (p.Pro1005Ala)
12g.47976001G>TCA384537320COL2A1c.3352C>A (p.Pro1118Thr)
c.3559C>A (p.Pro1187Thr)
n.2645C>A
n.412C>A
c.3703C>A (p.Pro1235Thr)
c.3700C>A (p.Pro1234Thr)
c.2647C>A (p.Pro883Thr)
c.3493C>A (p.Pro1165Thr)
c.3013C>A (p.Pro1005Thr)
12g.47976002A>CCA479451517COL2A1c.3351T>G (p.Pro1117=)
c.3558T>G (p.Pro1186=)
n.2644T>G
n.411T>G
c.3702T>G (p.Pro1234=)
c.3699T>G (p.Pro1233=)
c.2646T>G (p.Pro882=)
c.3492T>G (p.Pro1164=)
c.3012T>G (p.Pro1004=)
12g.47976002A>GCA479451518COL2A1c.3351T>C (p.Pro1117=)
c.3558T>C (p.Pro1186=)
n.2644T>C
n.411T>C
c.3702T>C (p.Pro1234=)
c.3699T>C (p.Pro1233=)
c.2646T>C (p.Pro882=)
c.3492T>C (p.Pro1164=)
c.3012T>C (p.Pro1004=)
12g.47976002A>TCA479451519COL2A1c.3351T>A (p.Pro1117=)
c.3558T>A (p.Pro1186=)
n.2644T>A
n.411T>A
c.3702T>A (p.Pro1234=)
c.3699T>A (p.Pro1233=)
c.2646T>A (p.Pro882=)
c.3492T>A (p.Pro1164=)
c.3012T>A (p.Pro1004=)
12g.47976003G>ACA384537322COL2A1c.3350C>T (p.Pro1117Leu)
c.3557C>T (p.Pro1186Leu)
n.2643C>T
n.410C>T
c.3701C>T (p.Pro1234Leu)
c.3698C>T (p.Pro1233Leu)
c.2645C>T (p.Pro882Leu)
c.3491C>T (p.Pro1164Leu)
c.3011C>T (p.Pro1004Leu)
 dbSNP gnomAD v4
12g.47976003G>CCA384537323COL2A1c.3350C>G (p.Pro1117Arg)
c.3557C>G (p.Pro1186Arg)
n.2643C>G
n.410C>G
c.3701C>G (p.Pro1234Arg)
c.3698C>G (p.Pro1233Arg)
c.2645C>G (p.Pro882Arg)
c.3491C>G (p.Pro1164Arg)
c.3011C>G (p.Pro1004Arg)
12g.47976003G=CA2034474863COL2A1c.3350C= (p.Pro1117=)
c.3557C= (p.Pro1186=)
n.2643C=
n.410C=
c.3701C= (p.Pro1234=)
c.3698C= (p.Pro1233=)
c.2645C= (p.Pro882=)
c.3491C= (p.Pro1164=)
c.3011C= (p.Pro1004=)
12g.47976003G>TCA384537324COL2A1c.3350C>A (p.Pro1117His)
c.3557C>A (p.Pro1186His)
n.2643C>A
n.410C>A
c.3701C>A (p.Pro1234His)
c.3698C>A (p.Pro1233His)
c.2645C>A (p.Pro882His)
c.3491C>A (p.Pro1164His)
c.3011C>A (p.Pro1004His)
 COSMIC COSMIC
12g.47976004G>ACA384537325COL2A1c.3349C>T (p.Pro1117Ser)
c.3556C>T (p.Pro1186Ser)
n.2642C>T
n.409C>T
c.3700C>T (p.Pro1234Ser)
c.3697C>T (p.Pro1233Ser)
c.2644C>T (p.Pro882Ser)
c.3490C>T (p.Pro1164Ser)
c.3010C>T (p.Pro1004Ser)
 gnomAD v4
12g.47976004G>CCA384537326COL2A1c.3349C>G (p.Pro1117Ala)
c.3556C>G (p.Pro1186Ala)
n.2642C>G
n.409C>G
c.3700C>G (p.Pro1234Ala)
c.3697C>G (p.Pro1233Ala)
c.2644C>G (p.Pro882Ala)
c.3490C>G (p.Pro1164Ala)
c.3010C>G (p.Pro1004Ala)
12g.47976004G>TCA384537327COL2A1c.3349C>A (p.Pro1117Thr)
c.3556C>A (p.Pro1186Thr)
n.2642C>A
n.409C>A
c.3700C>A (p.Pro1234Thr)
c.3697C>A (p.Pro1233Thr)
c.2644C>A (p.Pro882Thr)
c.3490C>A (p.Pro1164Thr)
c.3010C>A (p.Pro1004Thr)
12g.47976005C>ACA479451522COL2A1c.3348G>T (p.Gly1116=)
c.3555G>T (p.Gly1185=)
n.2641G>T
n.408G>T
c.3699G>T (p.Gly1233=)
c.3696G>T (p.Gly1232=)
c.2643G>T (p.Gly881=)
c.3489G>T (p.Gly1163=)
c.3009G>T (p.Gly1003=)
12g.47976005C>GCA479451523COL2A1c.3348G>C (p.Gly1116=)
c.3555G>C (p.Gly1185=)
n.2641G>C
n.408G>C
c.3699G>C (p.Gly1233=)
c.3696G>C (p.Gly1232=)
c.2643G>C (p.Gly881=)
c.3489G>C (p.Gly1163=)
c.3009G>C (p.Gly1003=)
 ClinVar dbSNP
12g.47976005C>TCA479451524COL2A1c.3348G>A (p.Gly1116=)
c.3555G>A (p.Gly1185=)
n.2641G>A
n.408G>A
c.3699G>A (p.Gly1233=)
c.3696G>A (p.Gly1232=)
c.2643G>A (p.Gly881=)
c.3489G>A (p.Gly1163=)
c.3009G>A (p.Gly1003=)
12g.47976006C>ACA384537328COL2A1c.3347G>T (p.Gly1116Val)
c.3554G>T (p.Gly1185Val)
n.2640G>T
n.407G>T
c.3698G>T (p.Gly1233Val)
c.3695G>T (p.Gly1232Val)
c.2642G>T (p.Gly881Val)
c.3488G>T (p.Gly1163Val)
c.3008G>T (p.Gly1003Val)
12g.47976006C>GCA384537329COL2A1c.3347G>C (p.Gly1116Ala)
c.3554G>C (p.Gly1185Ala)
n.2640G>C
n.407G>C
c.3698G>C (p.Gly1233Ala)
c.3695G>C (p.Gly1232Ala)
c.2642G>C (p.Gly881Ala)
c.3488G>C (p.Gly1163Ala)
c.3008G>C (p.Gly1003Ala)
12g.47976006C>TCA384537330COL2A1c.3347G>A (p.Gly1116Glu)
c.3554G>A (p.Gly1185Glu)
n.2640G>A
n.407G>A
c.3698G>A (p.Gly1233Glu)
c.3695G>A (p.Gly1232Glu)
c.2642G>A (p.Gly881Glu)
c.3488G>A (p.Gly1163Glu)
c.3008G>A (p.Gly1003Glu)
 ClinVar dbSNP
12g.47976008_47976052dupCA2580085683COL2A1c.3303_3347dup (p.Gly1116_Pro1117insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
c.3510_3554dup (p.Gly1185_Pro1186insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
n.2596_2640dup
n.363_407dup
c.3654_3698dup (p.Gly1233_Pro1234insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
c.3651_3695dup (p.Gly1232_Pro1233insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
c.2598_2642dup (p.Gly881_Pro882insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
c.3444_3488dup (p.Gly1163_Pro1164insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
c.2964_3008dup (p.Gly1003_Pro1004insProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGly)
 ClinVar dbSNP
12g.47976007C>ACA384537331COL2A1c.3346G>T (p.Gly1116Trp)
c.3553G>T (p.Gly1185Trp)
n.2639G>T
n.406G>T
c.3697G>T (p.Gly1233Trp)
c.3694G>T (p.Gly1232Trp)
c.2641G>T (p.Gly881Trp)
c.3487G>T (p.Gly1163Trp)
c.3007G>T (p.Gly1003Trp)
12g.47976007C=CA2034474871COL2A1c.3346G= (p.Gly1116=)
c.3553G= (p.Gly1185=)
n.2639G=
n.406G=
c.3697G= (p.Gly1233=)
c.3694G= (p.Gly1232=)
c.2641G= (p.Gly881=)
c.3487G= (p.Gly1163=)
c.3007G= (p.Gly1003=)
12g.47976007C>GCA384537332COL2A1c.3346G>C (p.Gly1116Arg)
c.3553G>C (p.Gly1185Arg)
n.2639G>C
n.406G>C
c.3697G>C (p.Gly1233Arg)
c.3694G>C (p.Gly1232Arg)
c.2641G>C (p.Gly881Arg)
c.3487G>C (p.Gly1163Arg)
c.3007G>C (p.Gly1003Arg)
 ClinVar dbSNP
12g.47976007C>TCA384537333COL2A1c.3346G>A (p.Gly1116Arg)
c.3553G>A (p.Gly1185Arg)
n.2639G>A
n.406G>A
c.3697G>A (p.Gly1233Arg)
c.3694G>A (p.Gly1232Arg)
c.2641G>A (p.Gly881Arg)
c.3487G>A (p.Gly1163Arg)
c.3007G>A (p.Gly1003Arg)
12g.47976008A=CA2034474875COL2A1c.3345T= (p.Ile1115=)
c.3552T= (p.Ile1184=)
n.2638T=
n.405T=
c.3696T= (p.Ile1232=)
c.3693T= (p.Ile1231=)
c.2640T= (p.Ile880=)
c.3486T= (p.Ile1162=)
c.3006T= (p.Ile1002=)
12g.47976008A>CCA384537334COL2A1c.3345T>G (p.Ile1115Met)
c.3552T>G (p.Ile1184Met)
n.2638T>G
n.405T>G
c.3696T>G (p.Ile1232Met)
c.3693T>G (p.Ile1231Met)
c.2640T>G (p.Ile880Met)
c.3486T>G (p.Ile1162Met)
c.3006T>G (p.Ile1002Met)
12g.47976008A>GCA479451531COL2A1c.3345T>C (p.Ile1115=)
c.3552T>C (p.Ile1184=)
n.2638T>C
n.405T>C
c.3696T>C (p.Ile1232=)
c.3693T>C (p.Ile1231=)
c.2640T>C (p.Ile880=)
c.3486T>C (p.Ile1162=)
c.3006T>C (p.Ile1002=)
12g.47976008A>TCA479451533COL2A1c.3345T>A (p.Ile1115=)
c.3552T>A (p.Ile1184=)
n.2638T>A
n.405T>A
c.3696T>A (p.Ile1232=)
c.3693T>A (p.Ile1231=)
c.2640T>A (p.Ile880=)
c.3486T>A (p.Ile1162=)
c.3006T>A (p.Ile1002=)
 dbSNP gnomAD v3 gnomAD v4
12g.47976009A=CA2034474879COL2A1c.3344T= (p.Ile1115=)
c.3551T= (p.Ile1184=)
n.2637T=
n.404T=
c.3695T= (p.Ile1232=)
c.3692T= (p.Ile1231=)
c.2639T= (p.Ile880=)
c.3485T= (p.Ile1162=)
c.3005T= (p.Ile1002=)
12g.47976009A>CCA384537336COL2A1c.3344T>G (p.Ile1115Ser)
c.3551T>G (p.Ile1184Ser)
n.2637T>G
n.404T>G
c.3695T>G (p.Ile1232Ser)
c.3692T>G (p.Ile1231Ser)
c.2639T>G (p.Ile880Ser)
c.3485T>G (p.Ile1162Ser)
c.3005T>G (p.Ile1002Ser)
12g.47976009A>GCA6534709COL2A1c.3344T>C (p.Ile1115Thr)
c.3551T>C (p.Ile1184Thr)
n.2637T>C
n.404T>C
c.3695T>C (p.Ile1232Thr)
c.3692T>C (p.Ile1231Thr)
c.2639T>C (p.Ile880Thr)
c.3485T>C (p.Ile1162Thr)
c.3005T>C (p.Ile1002Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976009A>TCA384537335COL2A1c.3344T>A (p.Ile1115Asn)
c.3551T>A (p.Ile1184Asn)
n.2637T>A
n.404T>A
c.3695T>A (p.Ile1232Asn)
c.3692T>A (p.Ile1231Asn)
c.2639T>A (p.Ile880Asn)
c.3485T>A (p.Ile1162Asn)
c.3005T>A (p.Ile1002Asn)
12g.47976010T>ACA384537337COL2A1c.3343A>T (p.Ile1115Phe)
c.3550A>T (p.Ile1184Phe)
n.2636A>T
n.403A>T
c.3694A>T (p.Ile1232Phe)
c.3691A>T (p.Ile1231Phe)
c.2638A>T (p.Ile880Phe)
c.3484A>T (p.Ile1162Phe)
c.3004A>T (p.Ile1002Phe)
12g.47976010T>CCA384537338COL2A1c.3343A>G (p.Ile1115Val)
c.3550A>G (p.Ile1184Val)
n.2636A>G
n.403A>G
c.3694A>G (p.Ile1232Val)
c.3691A>G (p.Ile1231Val)
c.2638A>G (p.Ile880Val)
c.3484A>G (p.Ile1162Val)
c.3004A>G (p.Ile1002Val)
 dbSNP
12g.47976010T>GCA384537339COL2A1c.3343A>C (p.Ile1115Leu)
c.3550A>C (p.Ile1184Leu)
n.2636A>C
n.403A>C
c.3694A>C (p.Ile1232Leu)
c.3691A>C (p.Ile1231Leu)
c.2638A>C (p.Ile880Leu)
c.3484A>C (p.Ile1162Leu)
c.3004A>C (p.Ile1002Leu)
12g.47976010T=CA2034474881COL2A1c.3343A= (p.Ile1115=)
c.3550A= (p.Ile1184=)
n.2636A=
n.403A=
c.3694A= (p.Ile1232=)
c.3691A= (p.Ile1231=)
c.2638A= (p.Ile880=)
c.3484A= (p.Ile1162=)
c.3004A= (p.Ile1002=)
12g.47976011G>ACA479451543COL2A1c.3342C>T (p.Pro1114=)
c.3549C>T (p.Pro1183=)
n.2635C>T
n.402C>T
c.3693C>T (p.Pro1231=)
c.3690C>T (p.Pro1230=)
c.2637C>T (p.Pro879=)
c.3483C>T (p.Pro1161=)
c.3003C>T (p.Pro1001=)
12g.47976011G>CCA479451545COL2A1c.3342C>G (p.Pro1114=)
c.3549C>G (p.Pro1183=)
n.2635C>G
n.402C>G
c.3693C>G (p.Pro1231=)
c.3690C>G (p.Pro1230=)
c.2637C>G (p.Pro879=)
c.3483C>G (p.Pro1161=)
c.3003C>G (p.Pro1001=)
12g.47976011G>TCA479451547COL2A1c.3342C>A (p.Pro1114=)
c.3549C>A (p.Pro1183=)
n.2635C>A
n.402C>A
c.3693C>A (p.Pro1231=)
c.3690C>A (p.Pro1230=)
c.2637C>A (p.Pro879=)
c.3483C>A (p.Pro1161=)
c.3003C>A (p.Pro1001=)
12g.47976012G>ACA384537340COL2A1c.3341C>T (p.Pro1114Leu)
c.3548C>T (p.Pro1183Leu)
n.2634C>T
n.401C>T
c.3692C>T (p.Pro1231Leu)
c.3689C>T (p.Pro1230Leu)
c.2636C>T (p.Pro879Leu)
c.3482C>T (p.Pro1161Leu)
c.3002C>T (p.Pro1001Leu)
12g.47976012G>CCA384537341COL2A1c.3341C>G (p.Pro1114Arg)
c.3548C>G (p.Pro1183Arg)
n.2634C>G
n.401C>G
c.3692C>G (p.Pro1231Arg)
c.3689C>G (p.Pro1230Arg)
c.2636C>G (p.Pro879Arg)
c.3482C>G (p.Pro1161Arg)
c.3002C>G (p.Pro1001Arg)
12g.47976012G>TCA384537342COL2A1c.3341C>A (p.Pro1114His)
c.3548C>A (p.Pro1183His)
n.2634C>A
n.401C>A
c.3692C>A (p.Pro1231His)
c.3689C>A (p.Pro1230His)
c.2636C>A (p.Pro879His)
c.3482C>A (p.Pro1161His)
c.3002C>A (p.Pro1001His)
12g.47976013G>ACA384537343COL2A1c.3340C>T (p.Pro1114Ser)
c.3547C>T (p.Pro1183Ser)
n.2633C>T
n.400C>T
c.3691C>T (p.Pro1231Ser)
c.3688C>T (p.Pro1230Ser)
c.2635C>T (p.Pro879Ser)
c.3481C>T (p.Pro1161Ser)
c.3001C>T (p.Pro1001Ser)
12g.47976013G>CCA384537344COL2A1c.3340C>G (p.Pro1114Ala)
c.3547C>G (p.Pro1183Ala)
n.2633C>G
n.400C>G
c.3691C>G (p.Pro1231Ala)
c.3688C>G (p.Pro1230Ala)
c.2635C>G (p.Pro879Ala)
c.3481C>G (p.Pro1161Ala)
c.3001C>G (p.Pro1001Ala)
12g.47976013G>TCA384537345COL2A1c.3340C>A (p.Pro1114Thr)
c.3547C>A (p.Pro1183Thr)
n.2633C>A
n.400C>A
c.3691C>A (p.Pro1231Thr)
c.3688C>A (p.Pro1230Thr)
c.2635C>A (p.Pro879Thr)
c.3481C>A (p.Pro1161Thr)
c.3001C>A (p.Pro1001Thr)
12g.47976014G>ACA479451557COL2A1c.3339C>T (p.Gly1113=)
c.3546C>T (p.Gly1182=)
n.2632C>T
n.399C>T
c.3690C>T (p.Gly1230=)
c.3687C>T (p.Gly1229=)
c.2634C>T (p.Gly878=)
c.3480C>T (p.Gly1160=)
c.3000C>T (p.Gly1000=)
12g.47976014G>CCA479451559COL2A1c.3339C>G (p.Gly1113=)
c.3546C>G (p.Gly1182=)
n.2632C>G
n.399C>G
c.3690C>G (p.Gly1230=)
c.3687C>G (p.Gly1229=)
c.2634C>G (p.Gly878=)
c.3480C>G (p.Gly1160=)
c.3000C>G (p.Gly1000=)
12g.47976014G=CA2034474885COL2A1c.3339C= (p.Gly1113=)
c.3546C= (p.Gly1182=)
n.2632C=
n.399C=
c.3690C= (p.Gly1230=)
c.3687C= (p.Gly1229=)
c.2634C= (p.Gly878=)
c.3480C= (p.Gly1160=)
c.3000C= (p.Gly1000=)
12g.47976014G>TCA6534710COL2A1c.3339C>A (p.Gly1113=)
c.3546C>A (p.Gly1182=)
n.2632C>A
n.399C>A
c.3690C>A (p.Gly1230=)
c.3687C>A (p.Gly1229=)
c.2634C>A (p.Gly878=)
c.3480C>A (p.Gly1160=)
c.3000C>A (p.Gly1000=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47976015C>ACA384537346COL2A1c.3338G>T (p.Gly1113Val)
c.3545G>T (p.Gly1182Val)
n.2631G>T
n.398G>T
c.3689G>T (p.Gly1230Val)
c.3686G>T (p.Gly1229Val)
c.2633G>T (p.Gly878Val)
c.3479G>T (p.Gly1160Val)
c.2999G>T (p.Gly1000Val)
12g.47976015C>GCA384537347COL2A1c.3338G>C (p.Gly1113Ala)
c.3545G>C (p.Gly1182Ala)
n.2631G>C
n.398G>C
c.3689G>C (p.Gly1230Ala)
c.3686G>C (p.Gly1229Ala)
c.2633G>C (p.Gly878Ala)
c.3479G>C (p.Gly1160Ala)
c.2999G>C (p.Gly1000Ala)
12g.47976015C>TCA384537348COL2A1c.3338G>A (p.Gly1113Asp)
c.3545G>A (p.Gly1182Asp)
n.2631G>A
n.398G>A
c.3689G>A (p.Gly1230Asp)
c.3686G>A (p.Gly1229Asp)
c.2633G>A (p.Gly878Asp)
c.3479G>A (p.Gly1160Asp)
c.2999G>A (p.Gly1000Asp)
 COSMIC COSMIC
12g.47976016C>ACA384537350COL2A1c.3337G>T (p.Gly1113Cys)
c.3544G>T (p.Gly1182Cys)
n.2630G>T
n.397G>T
c.3688G>T (p.Gly1230Cys)
c.3685G>T (p.Gly1229Cys)
c.2632G>T (p.Gly878Cys)
c.3478G>T (p.Gly1160Cys)
c.2998G>T (p.Gly1000Cys)
12g.47976016C>GCA384537351COL2A1c.3337G>C (p.Gly1113Arg)
c.3544G>C (p.Gly1182Arg)
n.2630G>C
n.397G>C
c.3688G>C (p.Gly1230Arg)
c.3685G>C (p.Gly1229Arg)
c.2632G>C (p.Gly878Arg)
c.3478G>C (p.Gly1160Arg)
c.2998G>C (p.Gly1000Arg)
12g.47976016C>TCA384537349COL2A1c.3337G>A (p.Gly1113Ser)
c.3544G>A (p.Gly1182Ser)
n.2630G>A
n.397G>A
c.3688G>A (p.Gly1230Ser)
c.3685G>A (p.Gly1229Ser)
c.2632G>A (p.Gly878Ser)
c.3478G>A (p.Gly1160Ser)
c.2998G>A (p.Gly1000Ser)
12g.47976017A>CCA479451569COL2A1c.3336T>G (p.Pro1112=)
c.3543T>G (p.Pro1181=)
n.2629T>G
n.396T>G
c.3687T>G (p.Pro1229=)
c.3684T>G (p.Pro1228=)
c.2631T>G (p.Pro877=)
c.3477T>G (p.Pro1159=)
c.2997T>G (p.Pro999=)
12g.47976017A>GCA479451571COL2A1c.3336T>C (p.Pro1112=)
c.3543T>C (p.Pro1181=)
n.2629T>C
n.396T>C
c.3687T>C (p.Pro1229=)
c.3684T>C (p.Pro1228=)
c.2631T>C (p.Pro877=)
c.3477T>C (p.Pro1159=)
c.2997T>C (p.Pro999=)
12g.47976017A>TCA479451573COL2A1c.3336T>A (p.Pro1112=)
c.3543T>A (p.Pro1181=)
n.2629T>A
n.396T>A
c.3687T>A (p.Pro1229=)
c.3684T>A (p.Pro1228=)
c.2631T>A (p.Pro877=)
c.3477T>A (p.Pro1159=)
c.2997T>A (p.Pro999=)
12g.47976018G>ACA384537352COL2A1c.3335C>T (p.Pro1112Leu)
c.3542C>T (p.Pro1181Leu)
n.2628C>T
n.395C>T
c.3686C>T (p.Pro1229Leu)
c.3683C>T (p.Pro1228Leu)
c.2630C>T (p.Pro877Leu)
c.3476C>T (p.Pro1159Leu)
c.2996C>T (p.Pro999Leu)
 gnomAD v4
12g.47976018G>CCA384537353COL2A1c.3335C>G (p.Pro1112Arg)
c.3542C>G (p.Pro1181Arg)
n.2628C>G
n.395C>G
c.3686C>G (p.Pro1229Arg)
c.3683C>G (p.Pro1228Arg)
c.2630C>G (p.Pro877Arg)
c.3476C>G (p.Pro1159Arg)
c.2996C>G (p.Pro999Arg)
12g.47976018G>TCA384537354COL2A1c.3335C>A (p.Pro1112His)
c.3542C>A (p.Pro1181His)
n.2628C>A
n.395C>A
c.3686C>A (p.Pro1229His)
c.3683C>A (p.Pro1228His)
c.2630C>A (p.Pro877His)
c.3476C>A (p.Pro1159His)
c.2996C>A (p.Pro999His)
12g.47976019G>ACA384537355COL2A1c.3334C>T (p.Pro1112Ser)
c.3541C>T (p.Pro1181Ser)
n.2627C>T
n.394C>T
c.3685C>T (p.Pro1229Ser)
c.3682C>T (p.Pro1228Ser)
c.2629C>T (p.Pro877Ser)
c.3475C>T (p.Pro1159Ser)
c.2995C>T (p.Pro999Ser)
 ClinVar gnomAD v4
12g.47976019G>CCA384537356COL2A1c.3334C>G (p.Pro1112Ala)
c.3541C>G (p.Pro1181Ala)
n.2627C>G
n.394C>G
c.3685C>G (p.Pro1229Ala)
c.3682C>G (p.Pro1228Ala)
c.2629C>G (p.Pro877Ala)
c.3475C>G (p.Pro1159Ala)
c.2995C>G (p.Pro999Ala)
 gnomAD v4
12g.47976019G>TCA384537357COL2A1c.3334C>A (p.Pro1112Thr)
c.3541C>A (p.Pro1181Thr)
n.2627C>A
n.394C>A
c.3685C>A (p.Pro1229Thr)
c.3682C>A (p.Pro1228Thr)
c.2629C>A (p.Pro877Thr)
c.3475C>A (p.Pro1159Thr)
c.2995C>A (p.Pro999Thr)
12g.47976020G>ACA479451588COL2A1c.3333C>T (p.Ile1111=)
c.3540C>T (p.Ile1180=)
n.2626C>T
n.393C>T
c.3684C>T (p.Ile1228=)
c.3681C>T (p.Ile1227=)
c.2628C>T (p.Ile876=)
c.3474C>T (p.Ile1158=)
c.2994C>T (p.Ile998=)
 dbSNP gnomAD v4
12g.47976020G>CCA384537358COL2A1c.3333C>G (p.Ile1111Met)
c.3540C>G (p.Ile1180Met)
n.2626C>G
n.393C>G
c.3684C>G (p.Ile1228Met)
c.3681C>G (p.Ile1227Met)
c.2628C>G (p.Ile876Met)
c.3474C>G (p.Ile1158Met)
c.2994C>G (p.Ile998Met)
12g.47976020G=CA2034474890COL2A1c.3333C= (p.Ile1111=)
c.3540C= (p.Ile1180=)
n.2626C=
n.393C=
c.3684C= (p.Ile1228=)
c.3681C= (p.Ile1227=)
c.2628C= (p.Ile876=)
c.3474C= (p.Ile1158=)
c.2994C= (p.Ile998=)
12g.47976020G>TCA6534711COL2A1c.3333C>A (p.Ile1111=)
c.3540C>A (p.Ile1180=)
n.2626C>A
n.393C>A
c.3684C>A (p.Ile1228=)
c.3681C>A (p.Ile1227=)
c.2628C>A (p.Ile876=)
c.3474C>A (p.Ile1158=)
c.2994C>A (p.Ile998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976021A>CCA384537359COL2A1c.3332T>G (p.Ile1111Ser)
c.3539T>G (p.Ile1180Ser)
n.2625T>G
n.392T>G
c.3683T>G (p.Ile1228Ser)
c.3680T>G (p.Ile1227Ser)
c.2627T>G (p.Ile876Ser)
c.3473T>G (p.Ile1158Ser)
c.2993T>G (p.Ile998Ser)
12g.47976021A>GCA384537360COL2A1c.3332T>C (p.Ile1111Thr)
c.3539T>C (p.Ile1180Thr)
n.2625T>C
n.392T>C
c.3683T>C (p.Ile1228Thr)
c.3680T>C (p.Ile1227Thr)
c.2627T>C (p.Ile876Thr)
c.3473T>C (p.Ile1158Thr)
c.2993T>C (p.Ile998Thr)
12g.47976021A>TCA384537361COL2A1c.3332T>A (p.Ile1111Asn)
c.3539T>A (p.Ile1180Asn)
n.2625T>A
n.392T>A
c.3683T>A (p.Ile1228Asn)
c.3680T>A (p.Ile1227Asn)
c.2627T>A (p.Ile876Asn)
c.3473T>A (p.Ile1158Asn)
c.2993T>A (p.Ile998Asn)
12g.47976022T>ACA384537364COL2A1c.3331A>T (p.Ile1111Phe)
c.3538A>T (p.Ile1180Phe)
n.2624A>T
n.391A>T
c.3682A>T (p.Ile1228Phe)
c.3679A>T (p.Ile1227Phe)
c.2626A>T (p.Ile876Phe)
c.3472A>T (p.Ile1158Phe)
c.2992A>T (p.Ile998Phe)
12g.47976022T>CCA384537363COL2A1c.3331A>G (p.Ile1111Val)
c.3538A>G (p.Ile1180Val)
n.2624A>G
n.391A>G
c.3682A>G (p.Ile1228Val)
c.3679A>G (p.Ile1227Val)
c.2626A>G (p.Ile876Val)
c.3472A>G (p.Ile1158Val)
c.2992A>G (p.Ile998Val)
12g.47976022T>GCA384537362COL2A1c.3331A>C (p.Ile1111Leu)
c.3538A>C (p.Ile1180Leu)
n.2624A>C
n.391A>C
c.3682A>C (p.Ile1228Leu)
c.3679A>C (p.Ile1227Leu)
c.2626A>C (p.Ile876Leu)
c.3472A>C (p.Ile1158Leu)
c.2992A>C (p.Ile998Leu)
 ClinVar gnomAD v4
12g.47976023T>ACA479451603COL2A1c.3330A>T (p.Gly1110=)
c.3537A>T (p.Gly1179=)
n.2623A>T
n.390A>T
c.3681A>T (p.Gly1227=)
c.3678A>T (p.Gly1226=)
c.2625A>T (p.Gly875=)
c.3471A>T (p.Gly1157=)
c.2991A>T (p.Gly997=)
12g.47976023T>CCA479451602COL2A1c.3330A>G (p.Gly1110=)
c.3537A>G (p.Gly1179=)
n.2623A>G
n.390A>G
c.3681A>G (p.Gly1227=)
c.3678A>G (p.Gly1226=)
c.2625A>G (p.Gly875=)
c.3471A>G (p.Gly1157=)
c.2991A>G (p.Gly997=)
12g.47976023T>GCA479451600COL2A1c.3330A>C (p.Gly1110=)
c.3537A>C (p.Gly1179=)
n.2623A>C
n.390A>C
c.3681A>C (p.Gly1227=)
c.3678A>C (p.Gly1226=)
c.2625A>C (p.Gly875=)
c.3471A>C (p.Gly1157=)
c.2991A>C (p.Gly997=)
12g.47976024C>ACA384537365COL2A1c.3329G>T (p.Gly1110Val)
c.3536G>T (p.Gly1179Val)
n.2622G>T
n.389G>T
c.3680G>T (p.Gly1227Val)
c.3677G>T (p.Gly1226Val)
c.2624G>T (p.Gly875Val)
c.3470G>T (p.Gly1157Val)
c.2990G>T (p.Gly997Val)
12g.47976024C>GCA384537366COL2A1c.3329G>C (p.Gly1110Ala)
c.3536G>C (p.Gly1179Ala)
n.2622G>C
n.389G>C
c.3680G>C (p.Gly1227Ala)
c.3677G>C (p.Gly1226Ala)
c.2624G>C (p.Gly875Ala)
c.3470G>C (p.Gly1157Ala)
c.2990G>C (p.Gly997Ala)
12g.47976024C>TCA384537367COL2A1c.3329G>A (p.Gly1110Glu)
c.3536G>A (p.Gly1179Glu)
n.2622G>A
n.389G>A
c.3680G>A (p.Gly1227Glu)
c.3677G>A (p.Gly1226Glu)
c.2624G>A (p.Gly875Glu)
c.3470G>A (p.Gly1157Glu)
c.2990G>A (p.Gly997Glu)
 ClinVar COSMIC
12g.47976025dupCA2575137638COL2A1c.3329dup (p.Ile1111AsnfsTer?)
c.3536dup (p.Ile1180AsnfsTer?)
n.2622dup
n.389dup
c.3680dup (p.Ile1228AsnfsTer?)
c.3677dup (p.Ile1227AsnfsTer?)
c.2624dup (p.Ile876AsnfsTer?)
c.3470dup (p.Ile1158AsnfsTer?)
c.2990dup (p.Ile998AsnfsTer?)
 ClinVar
12g.47976025C>ACA384537368COL2A1c.3328G>T (p.Gly1110Ter)
c.3535G>T (p.Gly1179Ter)
n.2621G>T
n.388G>T
c.3679G>T (p.Gly1227Ter)
c.3676G>T (p.Gly1226Ter)
c.2623G>T (p.Gly875Ter)
c.3469G>T (p.Gly1157Ter)
c.2989G>T (p.Gly997Ter)
 COSMIC COSMIC
12g.47976025C>GCA384537369COL2A1c.3328G>C (p.Gly1110Arg)
c.3535G>C (p.Gly1179Arg)
n.2621G>C
n.388G>C
c.3679G>C (p.Gly1227Arg)
c.3676G>C (p.Gly1226Arg)
c.2623G>C (p.Gly875Arg)
c.3469G>C (p.Gly1157Arg)
c.2989G>C (p.Gly997Arg)
12g.47976025C>TCA384537370COL2A1c.3328G>A (p.Gly1110Arg)
c.3535G>A (p.Gly1179Arg)
n.2621G>A
n.388G>A
c.3679G>A (p.Gly1227Arg)
c.3676G>A (p.Gly1226Arg)
c.2623G>A (p.Gly875Arg)
c.3469G>A (p.Gly1157Arg)
c.2989G>A (p.Gly997Arg)
12g.47976026A=CA2034474895COL2A1c.3327T= (p.Asn1109=)
c.3534T= (p.Asn1178=)
n.2620T=
n.387T=
c.3678T= (p.Asn1226=)
c.3675T= (p.Asn1225=)
c.2622T= (p.Asn874=)
c.3468T= (p.Asn1156=)
c.2988T= (p.Asn996=)
12g.47976026A>CCA384537371COL2A1c.3327T>G (p.Asn1109Lys)
c.3534T>G (p.Asn1178Lys)
n.2620T>G
n.387T>G
c.3678T>G (p.Asn1226Lys)
c.3675T>G (p.Asn1225Lys)
c.2622T>G (p.Asn874Lys)
c.3468T>G (p.Asn1156Lys)
c.2988T>G (p.Asn996Lys)
12g.47976026A>GCA6534712COL2A1c.3327T>C (p.Asn1109=)
c.3534T>C (p.Asn1178=)
n.2620T>C
n.387T>C
c.3678T>C (p.Asn1226=)
c.3675T>C (p.Asn1225=)
c.2622T>C (p.Asn874=)
c.3468T>C (p.Asn1156=)
c.2988T>C (p.Asn996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976026A>TCA384537372COL2A1c.3327T>A (p.Asn1109Lys)
c.3534T>A (p.Asn1178Lys)
n.2620T>A
n.387T>A
c.3678T>A (p.Asn1226Lys)
c.3675T>A (p.Asn1225Lys)
c.2622T>A (p.Asn874Lys)
c.3468T>A (p.Asn1156Lys)
c.2988T>A (p.Asn996Lys)
12g.47976027T>ACA384537373COL2A1c.3326A>T (p.Asn1109Ile)
c.3533A>T (p.Asn1178Ile)
n.2619A>T
n.386A>T
c.3677A>T (p.Asn1226Ile)
c.3674A>T (p.Asn1225Ile)
c.2621A>T (p.Asn874Ile)
c.3467A>T (p.Asn1156Ile)
c.2987A>T (p.Asn996Ile)
 gnomAD v4
12g.47976027T>CCA384537374COL2A1c.3326A>G (p.Asn1109Ser)
c.3533A>G (p.Asn1178Ser)
n.2619A>G
n.386A>G
c.3677A>G (p.Asn1226Ser)
c.3674A>G (p.Asn1225Ser)
c.2621A>G (p.Asn874Ser)
c.3467A>G (p.Asn1156Ser)
c.2987A>G (p.Asn996Ser)
12g.47976027T>GCA384537375COL2A1c.3326A>C (p.Asn1109Thr)
c.3533A>C (p.Asn1178Thr)
n.2619A>C
n.386A>C
c.3677A>C (p.Asn1226Thr)
c.3674A>C (p.Asn1225Thr)
c.2621A>C (p.Asn874Thr)
c.3467A>C (p.Asn1156Thr)
c.2987A>C (p.Asn996Thr)
12g.47976028T>ACA384537378COL2A1c.3325A>T (p.Asn1109Tyr)
c.3532A>T (p.Asn1178Tyr)
n.2618A>T
n.385A>T
c.3676A>T (p.Asn1226Tyr)
c.3673A>T (p.Asn1225Tyr)
c.2620A>T (p.Asn874Tyr)
c.3466A>T (p.Asn1156Tyr)
c.2986A>T (p.Asn996Tyr)
12g.47976028T>CCA384537377COL2A1c.3325A>G (p.Asn1109Asp)
c.3532A>G (p.Asn1178Asp)
n.2618A>G
n.385A>G
c.3676A>G (p.Asn1226Asp)
c.3673A>G (p.Asn1225Asp)
c.2620A>G (p.Asn874Asp)
c.3466A>G (p.Asn1156Asp)
c.2986A>G (p.Asn996Asp)
 gnomAD v4
12g.47976028T>GCA384537376COL2A1c.3325A>C (p.Asn1109His)
c.3532A>C (p.Asn1178His)
n.2618A>C
n.385A>C
c.3676A>C (p.Asn1226His)
c.3673A>C (p.Asn1225His)
c.2620A>C (p.Asn874His)
c.3466A>C (p.Asn1156His)
c.2986A>C (p.Asn996His)
12g.47976029A>CCA479451628COL2A1c.3324T>G (p.Ala1108=)
c.3531T>G (p.Ala1177=)
n.2617T>G
n.384T>G
c.3675T>G (p.Ala1225=)
c.3672T>G (p.Ala1224=)
c.2619T>G (p.Ala873=)
c.3465T>G (p.Ala1155=)
c.2985T>G (p.Ala995=)
12g.47976029A>GCA479451631COL2A1c.3324T>C (p.Ala1108=)
c.3531T>C (p.Ala1177=)
n.2617T>C
n.384T>C
c.3675T>C (p.Ala1225=)
c.3672T>C (p.Ala1224=)
c.2619T>C (p.Ala873=)
c.3465T>C (p.Ala1155=)
c.2985T>C (p.Ala995=)
 gnomAD v4
12g.47976029A>TCA479451632COL2A1c.3324T>A (p.Ala1108=)
c.3531T>A (p.Ala1177=)
n.2617T>A
n.384T>A
c.3675T>A (p.Ala1225=)
c.3672T>A (p.Ala1224=)
c.2619T>A (p.Ala873=)
c.3465T>A (p.Ala1155=)
c.2985T>A (p.Ala995=)
12g.47976030G>ACA384537379COL2A1c.3323C>T (p.Ala1108Val)
c.3530C>T (p.Ala1177Val)
n.2616C>T
n.383C>T
c.3674C>T (p.Ala1225Val)
c.3671C>T (p.Ala1224Val)
c.2618C>T (p.Ala873Val)
c.3464C>T (p.Ala1155Val)
c.2984C>T (p.Ala995Val)
12g.47976030G>CCA384537381COL2A1c.3323C>G (p.Ala1108Gly)
c.3530C>G (p.Ala1177Gly)
n.2616C>G
n.383C>G
c.3674C>G (p.Ala1225Gly)
c.3671C>G (p.Ala1224Gly)
c.2618C>G (p.Ala873Gly)
c.3464C>G (p.Ala1155Gly)
c.2984C>G (p.Ala995Gly)
12g.47976030G>TCA384537380COL2A1c.3323C>A (p.Ala1108Asp)
c.3530C>A (p.Ala1177Asp)
n.2616C>A
n.383C>A
c.3674C>A (p.Ala1225Asp)
c.3671C>A (p.Ala1224Asp)
c.2618C>A (p.Ala873Asp)
c.3464C>A (p.Ala1155Asp)
c.2984C>A (p.Ala995Asp)
12g.47976031C>ACA384537382COL2A1c.3322G>T (p.Ala1108Ser)
c.3529G>T (p.Ala1177Ser)
n.2615G>T
n.382G>T
c.3673G>T (p.Ala1225Ser)
c.3670G>T (p.Ala1224Ser)
c.2617G>T (p.Ala873Ser)
c.3463G>T (p.Ala1155Ser)
c.2983G>T (p.Ala995Ser)
12g.47976031C>GCA384537383COL2A1c.3322G>C (p.Ala1108Pro)
c.3529G>C (p.Ala1177Pro)
n.2615G>C
n.382G>C
c.3673G>C (p.Ala1225Pro)
c.3670G>C (p.Ala1224Pro)
c.2617G>C (p.Ala873Pro)
c.3463G>C (p.Ala1155Pro)
c.2983G>C (p.Ala995Pro)
12g.47976031C>TCA384537384COL2A1c.3322G>A (p.Ala1108Thr)
c.3529G>A (p.Ala1177Thr)
n.2615G>A
n.382G>A
c.3673G>A (p.Ala1225Thr)
c.3670G>A (p.Ala1224Thr)
c.2617G>A (p.Ala873Thr)
c.3463G>A (p.Ala1155Thr)
c.2983G>A (p.Ala995Thr)
12g.47976032A>CCA479451640COL2A1c.3321T>G (p.Gly1107=)
c.3528T>G (p.Gly1176=)
n.2614T>G
n.381T>G
c.3672T>G (p.Gly1224=)
c.3669T>G (p.Gly1223=)
c.2616T>G (p.Gly872=)
c.3462T>G (p.Gly1154=)
c.2982T>G (p.Gly994=)
12g.47976032A>GCA479451642COL2A1c.3321T>C (p.Gly1107=)
c.3528T>C (p.Gly1176=)
n.2614T>C
n.381T>C
c.3672T>C (p.Gly1224=)
c.3669T>C (p.Gly1223=)
c.2616T>C (p.Gly872=)
c.3462T>C (p.Gly1154=)
c.2982T>C (p.Gly994=)
12g.47976032A>TCA479451643COL2A1c.3321T>A (p.Gly1107=)
c.3528T>A (p.Gly1176=)
n.2614T>A
n.381T>A
c.3672T>A (p.Gly1224=)
c.3669T>A (p.Gly1223=)
c.2616T>A (p.Gly872=)
c.3462T>A (p.Gly1154=)
c.2982T>A (p.Gly994=)
12g.47976033C>ACA384537385COL2A1c.3320G>T (p.Gly1107Val)
c.3527G>T (p.Gly1176Val)
n.2613G>T
n.380G>T
c.3671G>T (p.Gly1224Val)
c.3668G>T (p.Gly1223Val)
c.2615G>T (p.Gly872Val)
c.3461G>T (p.Gly1154Val)
c.2981G>T (p.Gly994Val)
12g.47976033C=CA2034474907COL2A1c.3320G= (p.Gly1107=)
c.3527G= (p.Gly1176=)
n.2613G=
n.380G=
c.3671G= (p.Gly1224=)
c.3668G= (p.Gly1223=)
c.2615G= (p.Gly872=)
c.3461G= (p.Gly1154=)
c.2981G= (p.Gly994=)
12g.47976033C>GCA384537386COL2A1c.3320G>C (p.Gly1107Ala)
c.3527G>C (p.Gly1176Ala)
n.2613G>C
n.380G>C
c.3671G>C (p.Gly1224Ala)
c.3668G>C (p.Gly1223Ala)
c.2615G>C (p.Gly872Ala)
c.3461G>C (p.Gly1154Ala)
c.2981G>C (p.Gly994Ala)
12g.47976033C>TCA384537387COL2A1c.3320G>A (p.Gly1107Asp)
c.3527G>A (p.Gly1176Asp)
n.2613G>A
n.380G>A
c.3671G>A (p.Gly1224Asp)
c.3668G>A (p.Gly1223Asp)
c.2615G>A (p.Gly872Asp)
c.3461G>A (p.Gly1154Asp)
c.2981G>A (p.Gly994Asp)
 ClinVar dbSNP
12g.47976034C>ACA384537388COL2A1c.3319G>T (p.Gly1107Cys)
c.3526G>T (p.Gly1176Cys)
n.2612G>T
n.379G>T
c.3670G>T (p.Gly1224Cys)
c.3667G>T (p.Gly1223Cys)
c.2614G>T (p.Gly872Cys)
c.3460G>T (p.Gly1154Cys)
c.2980G>T (p.Gly994Cys)
12g.47976034C>GCA384537389COL2A1c.3319G>C (p.Gly1107Arg)
c.3526G>C (p.Gly1176Arg)
n.2612G>C
n.379G>C
c.3670G>C (p.Gly1224Arg)
c.3667G>C (p.Gly1223Arg)
c.2614G>C (p.Gly872Arg)
c.3460G>C (p.Gly1154Arg)
c.2980G>C (p.Gly994Arg)
12g.47976034C>TCA384537390COL2A1c.3319G>A (p.Gly1107Ser)
c.3526G>A (p.Gly1176Ser)
n.2612G>A
n.379G>A
c.3670G>A (p.Gly1224Ser)
c.3667G>A (p.Gly1223Ser)
c.2614G>A (p.Gly872Ser)
c.3460G>A (p.Gly1154Ser)
c.2980G>A (p.Gly994Ser)
 ClinVar dbSNP
12g.47976035A=CA2034474910COL2A1c.3318T= (p.Asp1106=)
c.3525T= (p.Asp1175=)
n.2611T=
n.378T=
c.3669T= (p.Asp1223=)
c.3666T= (p.Asp1222=)
c.2613T= (p.Asp871=)
c.3459T= (p.Asp1153=)
c.2979T= (p.Asp993=)
12g.47976035A>CCA384537391COL2A1c.3318T>G (p.Asp1106Glu)
c.3525T>G (p.Asp1175Glu)
n.2611T>G
n.378T>G
c.3669T>G (p.Asp1223Glu)
c.3666T>G (p.Asp1222Glu)
c.2613T>G (p.Asp871Glu)
c.3459T>G (p.Asp1153Glu)
c.2979T>G (p.Asp993Glu)
12g.47976035A>GCA236517704COL2A1c.3318T>C (p.Asp1106=)
c.3525T>C (p.Asp1175=)
n.2611T>C
n.378T>C
c.3669T>C (p.Asp1223=)
c.3666T>C (p.Asp1222=)
c.2613T>C (p.Asp871=)
c.3459T>C (p.Asp1153=)
c.2979T>C (p.Asp993=)
 dbSNP gnomAD v4
12g.47976035A>TCA384537392COL2A1c.3318T>A (p.Asp1106Glu)
c.3525T>A (p.Asp1175Glu)
n.2611T>A
n.378T>A
c.3669T>A (p.Asp1223Glu)
c.3666T>A (p.Asp1222Glu)
c.2613T>A (p.Asp871Glu)
c.3459T>A (p.Asp1153Glu)
c.2979T>A (p.Asp993Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.47976036T>ACA384537395COL2A1c.3317A>T (p.Asp1106Val)
c.3524A>T (p.Asp1175Val)
n.2610A>T
n.377A>T
c.3668A>T (p.Asp1223Val)
c.3665A>T (p.Asp1222Val)
c.2612A>T (p.Asp871Val)
c.3458A>T (p.Asp1153Val)
c.2978A>T (p.Asp993Val)
 dbSNP gnomAD v3 gnomAD v4
12g.47976036T>CCA384537393COL2A1c.3317A>G (p.Asp1106Gly)
c.3524A>G (p.Asp1175Gly)
n.2610A>G
n.377A>G
c.3668A>G (p.Asp1223Gly)
c.3665A>G (p.Asp1222Gly)
c.2612A>G (p.Asp871Gly)
c.3458A>G (p.Asp1153Gly)
c.2978A>G (p.Asp993Gly)
12g.47976036T>GCA384537394COL2A1c.3317A>C (p.Asp1106Ala)
c.3524A>C (p.Asp1175Ala)
n.2610A>C
n.377A>C
c.3668A>C (p.Asp1223Ala)
c.3665A>C (p.Asp1222Ala)
c.2612A>C (p.Asp871Ala)
c.3458A>C (p.Asp1153Ala)
c.2978A>C (p.Asp993Ala)
12g.47976036T=CA2034474916COL2A1c.3317A= (p.Asp1106=)
c.3524A= (p.Asp1175=)
n.2610A=
n.377A=
c.3668A= (p.Asp1223=)
c.3665A= (p.Asp1222=)
c.2612A= (p.Asp871=)
c.3458A= (p.Asp1153=)
c.2978A= (p.Asp993=)
12g.47976037C>ACA384537396COL2A1c.3316G>T (p.Asp1106Tyr)
c.3523G>T (p.Asp1175Tyr)
n.2609G>T
n.376G>T
c.3667G>T (p.Asp1223Tyr)
c.3664G>T (p.Asp1222Tyr)
c.2611G>T (p.Asp871Tyr)
c.3457G>T (p.Asp1153Tyr)
c.2977G>T (p.Asp993Tyr)
 gnomAD v4
12g.47976037C>GCA384537397COL2A1c.3316G>C (p.Asp1106His)
c.3523G>C (p.Asp1175His)
n.2609G>C
n.376G>C
c.3667G>C (p.Asp1223His)
c.3664G>C (p.Asp1222His)
c.2611G>C (p.Asp871His)
c.3457G>C (p.Asp1153His)
c.2977G>C (p.Asp993His)
12g.47976037C>TCA384537398COL2A1c.3316G>A (p.Asp1106Asn)
c.3523G>A (p.Asp1175Asn)
n.2609G>A
n.376G>A
c.3667G>A (p.Asp1223Asn)
c.3664G>A (p.Asp1222Asn)
c.2611G>A (p.Asp871Asn)
c.3457G>A (p.Asp1153Asn)
c.2977G>A (p.Asp993Asn)
 COSMIC
12g.47976038T>ACA384537399COL2A1c.3315A>T (p.Lys1105Asn)
c.3522A>T (p.Lys1174Asn)
n.2608A>T
n.375A>T
c.3666A>T (p.Lys1222Asn)
c.3663A>T (p.Lys1221Asn)
c.2610A>T (p.Lys870Asn)
c.3456A>T (p.Lys1152Asn)
c.2976A>T (p.Lys992Asn)
12g.47976038T>CCA479451660COL2A1c.3315A>G (p.Lys1105=)
c.3522A>G (p.Lys1174=)
n.2608A>G
n.375A>G
c.3666A>G (p.Lys1222=)
c.3663A>G (p.Lys1221=)
c.2610A>G (p.Lys870=)
c.3456A>G (p.Lys1152=)
c.2976A>G (p.Lys992=)
12g.47976038T>GCA384537400COL2A1c.3315A>C (p.Lys1105Asn)
c.3522A>C (p.Lys1174Asn)
n.2608A>C
n.375A>C
c.3666A>C (p.Lys1222Asn)
c.3663A>C (p.Lys1221Asn)
c.2610A>C (p.Lys870Asn)
c.3456A>C (p.Lys1152Asn)
c.2976A>C (p.Lys992Asn)
12g.47976039T>ACA384537401COL2A1c.3314A>T (p.Lys1105Ile)
c.3521A>T (p.Lys1174Ile)
n.2607A>T
n.374A>T
c.3665A>T (p.Lys1222Ile)
c.3662A>T (p.Lys1221Ile)
c.2609A>T (p.Lys870Ile)
c.3455A>T (p.Lys1152Ile)
c.2975A>T (p.Lys992Ile)
12g.47976039T>CCA384537402COL2A1c.3314A>G (p.Lys1105Arg)
c.3521A>G (p.Lys1174Arg)
n.2607A>G
n.374A>G
c.3665A>G (p.Lys1222Arg)
c.3662A>G (p.Lys1221Arg)
c.2609A>G (p.Lys870Arg)
c.3455A>G (p.Lys1152Arg)
c.2975A>G (p.Lys992Arg)
12g.47976039T>GCA384537403COL2A1c.3314A>C (p.Lys1105Thr)
c.3521A>C (p.Lys1174Thr)
n.2607A>C
n.374A>C
c.3665A>C (p.Lys1222Thr)
c.3662A>C (p.Lys1221Thr)
c.2609A>C (p.Lys870Thr)
c.3455A>C (p.Lys1152Thr)
c.2975A>C (p.Lys992Thr)
12g.47976040T>ACA384537404COL2A1c.3313A>T (p.Lys1105Ter)
c.3520A>T (p.Lys1174Ter)
n.2606A>T
n.373A>T
c.3664A>T (p.Lys1222Ter)
c.3661A>T (p.Lys1221Ter)
c.2608A>T (p.Lys870Ter)
c.3454A>T (p.Lys1152Ter)
c.2974A>T (p.Lys992Ter)
12g.47976040T>CCA384537405COL2A1c.3313A>G (p.Lys1105Glu)
c.3520A>G (p.Lys1174Glu)
n.2606A>G
n.373A>G
c.3664A>G (p.Lys1222Glu)
c.3661A>G (p.Lys1221Glu)
c.2608A>G (p.Lys870Glu)
c.3454A>G (p.Lys1152Glu)
c.2974A>G (p.Lys992Glu)
12g.47976040T>GCA384537406COL2A1c.3313A>C (p.Lys1105Gln)
c.3520A>C (p.Lys1174Gln)
n.2606A>C
n.373A>C
c.3664A>C (p.Lys1222Gln)
c.3661A>C (p.Lys1221Gln)
c.2608A>C (p.Lys870Gln)
c.3454A>C (p.Lys1152Gln)
c.2974A>C (p.Lys992Gln)
12g.47976041G>ACA479451672COL2A1c.3312C>T (p.Gly1104=)
c.3519C>T (p.Gly1173=)
n.2605C>T
n.372C>T
c.3663C>T (p.Gly1221=)
c.3660C>T (p.Gly1220=)
c.2607C>T (p.Gly869=)
c.3453C>T (p.Gly1151=)
c.2973C>T (p.Gly991=)
12g.47976041G>CCA479451674COL2A1c.3312C>G (p.Gly1104=)
c.3519C>G (p.Gly1173=)
n.2605C>G
n.372C>G
c.3663C>G (p.Gly1221=)
c.3660C>G (p.Gly1220=)
c.2607C>G (p.Gly869=)
c.3453C>G (p.Gly1151=)
c.2973C>G (p.Gly991=)
12g.47976041G>TCA479451671COL2A1c.3312C>A (p.Gly1104=)
c.3519C>A (p.Gly1173=)
n.2605C>A
n.372C>A
c.3663C>A (p.Gly1221=)
c.3660C>A (p.Gly1220=)
c.2607C>A (p.Gly869=)
c.3453C>A (p.Gly1151=)
c.2973C>A (p.Gly991=)
 COSMIC COSMIC
12g.47976042C>ACA384537408COL2A1c.3311G>T (p.Gly1104Val)
c.3518G>T (p.Gly1173Val)
n.2604G>T
n.371G>T
c.3662G>T (p.Gly1221Val)
c.3659G>T (p.Gly1220Val)
c.2606G>T (p.Gly869Val)
c.3452G>T (p.Gly1151Val)
c.2972G>T (p.Gly991Val)
12g.47976042C>GCA384537409COL2A1c.3311G>C (p.Gly1104Ala)
c.3518G>C (p.Gly1173Ala)
n.2604G>C
n.371G>C
c.3662G>C (p.Gly1221Ala)
c.3659G>C (p.Gly1220Ala)
c.2606G>C (p.Gly869Ala)
c.3452G>C (p.Gly1151Ala)
c.2972G>C (p.Gly991Ala)
12g.47976042C>TCA384537407COL2A1c.3311G>A (p.Gly1104Asp)
c.3518G>A (p.Gly1173Asp)
n.2604G>A
n.371G>A
c.3662G>A (p.Gly1221Asp)
c.3659G>A (p.Gly1220Asp)
c.2606G>A (p.Gly869Asp)
c.3452G>A (p.Gly1151Asp)
c.2972G>A (p.Gly991Asp)
12g.47976043C>ACA384537410COL2A1c.3310G>T (p.Gly1104Cys)
c.3517G>T (p.Gly1173Cys)
n.2603G>T
n.370G>T
c.3661G>T (p.Gly1221Cys)
c.3658G>T (p.Gly1220Cys)
c.2605G>T (p.Gly869Cys)
c.3451G>T (p.Gly1151Cys)
c.2971G>T (p.Gly991Cys)
12g.47976043C=CA2034474922COL2A1c.3310G= (p.Gly1104=)
c.3517G= (p.Gly1173=)
n.2603G=
n.370G=
c.3661G= (p.Gly1221=)
c.3658G= (p.Gly1220=)
c.2605G= (p.Gly869=)
c.3451G= (p.Gly1151=)
c.2971G= (p.Gly991=)
12g.47976043C>GCA250686COL2A1c.3310G>C (p.Gly1104Arg)
c.3517G>C (p.Gly1173Arg)
n.2603G>C
n.370G>C
c.3661G>C (p.Gly1221Arg)
c.3658G>C (p.Gly1220Arg)
c.2605G>C (p.Gly869Arg)
c.3451G>C (p.Gly1151Arg)
c.2971G>C (p.Gly991Arg)
 ClinVar dbSNP
12g.47976043C>TCA384537411COL2A1c.3310G>A (p.Gly1104Ser)
c.3517G>A (p.Gly1173Ser)
n.2603G>A
n.370G>A
c.3661G>A (p.Gly1221Ser)
c.3658G>A (p.Gly1220Ser)
c.2605G>A (p.Gly869Ser)
c.3451G>A (p.Gly1151Ser)
c.2971G>A (p.Gly991Ser)
12g.47976044A>CCA479451683COL2A1c.3309T>G (p.Ser1103=)
c.3516T>G (p.Ser1172=)
n.2602T>G
n.369T>G
c.3660T>G (p.Ser1220=)
c.3657T>G (p.Ser1219=)
c.2604T>G (p.Ser868=)
c.3450T>G (p.Ser1150=)
c.2970T>G (p.Ser990=)
 ClinVar dbSNP
12g.47976044A>GCA479451684COL2A1c.3309T>C (p.Ser1103=)
c.3516T>C (p.Ser1172=)
n.2602T>C
n.369T>C
c.3660T>C (p.Ser1220=)
c.3657T>C (p.Ser1219=)
c.2604T>C (p.Ser868=)
c.3450T>C (p.Ser1150=)
c.2970T>C (p.Ser990=)
12g.47976044A>TCA479451686COL2A1c.3309T>A (p.Ser1103=)
c.3516T>A (p.Ser1172=)
n.2602T>A
n.369T>A
c.3660T>A (p.Ser1220=)
c.3657T>A (p.Ser1219=)
c.2604T>A (p.Ser868=)
c.3450T>A (p.Ser1150=)
c.2970T>A (p.Ser990=)
12g.47976046_47976047delCA2697559178COL2A1c.3308_3309del (p.Ser1103TrpfsTer6)
c.3515_3516del (p.Ser1172TrpfsTer6)
n.2601_2602del
n.368_369del
c.3659_3660del (p.Ser1220TrpfsTer6)
c.3656_3657del (p.Ser1219TrpfsTer6)
c.2603_2604del (p.Ser868TrpfsTer6)
c.3449_3450del (p.Ser1150TrpfsTer6)
c.2969_2970del (p.Ser990TrpfsTer6)
 ClinVar
12g.47976045G>ACA384537412COL2A1c.3308C>T (p.Ser1103Phe)
c.3515C>T (p.Ser1172Phe)
n.2601C>T
n.368C>T
c.3659C>T (p.Ser1220Phe)
c.3656C>T (p.Ser1219Phe)
c.2603C>T (p.Ser868Phe)
c.3449C>T (p.Ser1150Phe)
c.2969C>T (p.Ser990Phe)
12g.47976045G>CCA384537413COL2A1c.3308C>G (p.Ser1103Cys)
c.3515C>G (p.Ser1172Cys)
n.2601C>G
n.368C>G
c.3659C>G (p.Ser1220Cys)
c.3656C>G (p.Ser1219Cys)
c.2603C>G (p.Ser868Cys)
c.3449C>G (p.Ser1150Cys)
c.2969C>G (p.Ser990Cys)
12g.47976045G>TCA384537414COL2A1c.3308C>A (p.Ser1103Tyr)
c.3515C>A (p.Ser1172Tyr)
n.2601C>A
n.368C>A
c.3659C>A (p.Ser1220Tyr)
c.3656C>A (p.Ser1219Tyr)
c.2603C>A (p.Ser868Tyr)
c.3449C>A (p.Ser1150Tyr)
c.2969C>A (p.Ser990Tyr)
12g.47976046A=CA2034474927COL2A1c.3307T= (p.Ser1103=)
c.3514T= (p.Ser1172=)
n.2600T=
n.367T=
c.3658T= (p.Ser1220=)
c.3655T= (p.Ser1219=)
c.2602T= (p.Ser868=)
c.3448T= (p.Ser1150=)
c.2968T= (p.Ser990=)
12g.47976046A>CCA384537415COL2A1c.3307T>G (p.Ser1103Ala)
c.3514T>G (p.Ser1172Ala)
n.2600T>G
n.367T>G
c.3658T>G (p.Ser1220Ala)
c.3655T>G (p.Ser1219Ala)
c.2602T>G (p.Ser868Ala)
c.3448T>G (p.Ser1150Ala)
c.2968T>G (p.Ser990Ala)
12g.47976046A>GCA384537416COL2A1c.3307T>C (p.Ser1103Pro)
c.3514T>C (p.Ser1172Pro)
n.2600T>C
n.367T>C
c.3658T>C (p.Ser1220Pro)
c.3655T>C (p.Ser1219Pro)
c.2602T>C (p.Ser868Pro)
c.3448T>C (p.Ser1150Pro)
c.2968T>C (p.Ser990Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.47976046A>TCA384537417COL2A1c.3307T>A (p.Ser1103Thr)
c.3514T>A (p.Ser1172Thr)
n.2600T>A
n.367T>A
c.3658T>A (p.Ser1220Thr)
c.3655T>A (p.Ser1219Thr)
c.2602T>A (p.Ser868Thr)
c.3448T>A (p.Ser1150Thr)
c.2968T>A (p.Ser990Thr)
12g.47976047G>ACA479451698COL2A1c.3306C>T (p.Pro1102=)
c.3513C>T (p.Pro1171=)
n.2599C>T
n.366C>T
c.3657C>T (p.Pro1219=)
c.3654C>T (p.Pro1218=)
c.2601C>T (p.Pro867=)
c.3447C>T (p.Pro1149=)
c.2967C>T (p.Pro989=)
12g.47976047G>CCA479451694COL2A1c.3306C>G (p.Pro1102=)
c.3513C>G (p.Pro1171=)
n.2599C>G
n.366C>G
c.3657C>G (p.Pro1219=)
c.3654C>G (p.Pro1218=)
c.2601C>G (p.Pro867=)
c.3447C>G (p.Pro1149=)
c.2967C>G (p.Pro989=)
 gnomAD v4
12g.47976047G=CA2034474931COL2A1c.3306C= (p.Pro1102=)
c.3513C= (p.Pro1171=)
n.2599C=
n.366C=
c.3657C= (p.Pro1219=)
c.3654C= (p.Pro1218=)
c.2601C= (p.Pro867=)
c.3447C= (p.Pro1149=)
c.2967C= (p.Pro989=)
12g.47976047G>TCA6534713COL2A1c.3306C>A (p.Pro1102=)
c.3513C>A (p.Pro1171=)
n.2599C>A
n.366C>A
c.3657C>A (p.Pro1219=)
c.3654C>A (p.Pro1218=)
c.2601C>A (p.Pro867=)
c.3447C>A (p.Pro1149=)
c.2967C>A (p.Pro989=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976048G>ACA384537418COL2A1c.3305C>T (p.Pro1102Leu)
c.3512C>T (p.Pro1171Leu)
n.2598C>T
n.365C>T
c.3656C>T (p.Pro1219Leu)
c.3653C>T (p.Pro1218Leu)
c.2600C>T (p.Pro867Leu)
c.3446C>T (p.Pro1149Leu)
c.2966C>T (p.Pro989Leu)
12g.47976048G>CCA384537419COL2A1c.3305C>G (p.Pro1102Arg)
c.3512C>G (p.Pro1171Arg)
n.2598C>G
n.365C>G
c.3656C>G (p.Pro1219Arg)
c.3653C>G (p.Pro1218Arg)
c.2600C>G (p.Pro867Arg)
c.3446C>G (p.Pro1149Arg)
c.2966C>G (p.Pro989Arg)
12g.47976048G>TCA384537420COL2A1c.3305C>A (p.Pro1102His)
c.3512C>A (p.Pro1171His)
n.2598C>A
n.365C>A
c.3656C>A (p.Pro1219His)
c.3653C>A (p.Pro1218His)
c.2600C>A (p.Pro867His)
c.3446C>A (p.Pro1149His)
c.2966C>A (p.Pro989His)
12g.47976049G>ACA6534714COL2A1c.3304C>T (p.Pro1102Ser)
c.3511C>T (p.Pro1171Ser)
n.2597C>T
n.364C>T
c.3655C>T (p.Pro1219Ser)
c.3652C>T (p.Pro1218Ser)
c.2599C>T (p.Pro867Ser)
c.3445C>T (p.Pro1149Ser)
c.2965C>T (p.Pro989Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976049G>CCA6534715COL2A1c.3304C>G (p.Pro1102Ala)
c.3511C>G (p.Pro1171Ala)
n.2597C>G
n.364C>G
c.3655C>G (p.Pro1219Ala)
c.3652C>G (p.Pro1218Ala)
c.2599C>G (p.Pro867Ala)
c.3445C>G (p.Pro1149Ala)
c.2965C>G (p.Pro989Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976049G=CA2034474939COL2A1c.3304C= (p.Pro1102=)
c.3511C= (p.Pro1171=)
n.2597C=
n.364C=
c.3655C= (p.Pro1219=)
c.3652C= (p.Pro1218=)
c.2599C= (p.Pro867=)
c.3445C= (p.Pro1149=)
c.2965C= (p.Pro989=)
12g.47976049G>TCA384537421COL2A1c.3304C>A (p.Pro1102Thr)
c.3511C>A (p.Pro1171Thr)
n.2597C>A
n.364C>A
c.3655C>A (p.Pro1219Thr)
c.3652C>A (p.Pro1218Thr)
c.2599C>A (p.Pro867Thr)
c.3445C>A (p.Pro1149Thr)
c.2965C>A (p.Pro989Thr)
12g.47976050A=CA2034474945COL2A1c.3303T= (p.Gly1101=)
c.3510T= (p.Gly1170=)
n.2596T=
n.363T=
c.3654T= (p.Gly1218=)
c.3651T= (p.Gly1217=)
c.2598T= (p.Gly866=)
c.3444T= (p.Gly1148=)
c.2964T= (p.Gly988=)
12g.47976050A>CCA479451708COL2A1c.3303T>G (p.Gly1101=)
c.3510T>G (p.Gly1170=)
n.2596T>G
n.363T>G
c.3654T>G (p.Gly1218=)
c.3651T>G (p.Gly1217=)
c.2598T>G (p.Gly866=)
c.3444T>G (p.Gly1148=)
c.2964T>G (p.Gly988=)
12g.47976050A>GCA479451709COL2A1c.3303T>C (p.Gly1101=)
c.3510T>C (p.Gly1170=)
n.2596T>C
n.363T>C
c.3654T>C (p.Gly1218=)
c.3651T>C (p.Gly1217=)
c.2598T>C (p.Gly866=)
c.3444T>C (p.Gly1148=)
c.2964T>C (p.Gly988=)
 dbSNP gnomAD v2 gnomAD v4
12g.47976050A>TCA479451711COL2A1c.3303T>A (p.Gly1101=)
c.3510T>A (p.Gly1170=)
n.2596T>A
n.363T>A
c.3654T>A (p.Gly1218=)
c.3651T>A (p.Gly1217=)
c.2598T>A (p.Gly866=)
c.3444T>A (p.Gly1148=)
c.2964T>A (p.Gly988=)
12g.47976051C>ACA384537422COL2A1c.3302G>T (p.Gly1101Val)
c.3509G>T (p.Gly1170Val)
n.2595G>T
n.362G>T
c.3653G>T (p.Gly1218Val)
c.3650G>T (p.Gly1217Val)
c.2597G>T (p.Gly866Val)
c.3443G>T (p.Gly1148Val)
c.2963G>T (p.Gly988Val)
12g.47976051C>GCA384537423COL2A1c.3302G>C (p.Gly1101Ala)
c.3509G>C (p.Gly1170Ala)
n.2595G>C
n.362G>C
c.3653G>C (p.Gly1218Ala)
c.3650G>C (p.Gly1217Ala)
c.2597G>C (p.Gly866Ala)
c.3443G>C (p.Gly1148Ala)
c.2963G>C (p.Gly988Ala)
 ClinVar
12g.47976051C>TCA384537424COL2A1c.3302G>A (p.Gly1101Asp)
c.3509G>A (p.Gly1170Asp)
n.2595G>A
n.362G>A
c.3653G>A (p.Gly1218Asp)
c.3650G>A (p.Gly1217Asp)
c.2597G>A (p.Gly866Asp)
c.3443G>A (p.Gly1148Asp)
c.2963G>A (p.Gly988Asp)
12g.47976052C>ACA384537425COL2A1c.3301G>T (p.Gly1101Cys)
c.3508G>T (p.Gly1170Cys)
n.2594G>T
n.361G>T
c.3652G>T (p.Gly1218Cys)
c.3649G>T (p.Gly1217Cys)
c.2596G>T (p.Gly866Cys)
c.3442G>T (p.Gly1148Cys)
c.2962G>T (p.Gly988Cys)
12g.47976052C=CA2034474953COL2A1c.3301G= (p.Gly1101=)
c.3508G= (p.Gly1170=)
n.2594G=
n.361G=
c.3652G= (p.Gly1218=)
c.3649G= (p.Gly1217=)
c.2596G= (p.Gly866=)
c.3442G= (p.Gly1148=)
c.2962G= (p.Gly988=)
12g.47976052C>GCA384537426COL2A1c.3301G>C (p.Gly1101Arg)
c.3508G>C (p.Gly1170Arg)
n.2594G>C
n.361G>C
c.3652G>C (p.Gly1218Arg)
c.3649G>C (p.Gly1217Arg)
c.2596G>C (p.Gly866Arg)
c.3442G>C (p.Gly1148Arg)
c.2962G>C (p.Gly988Arg)
 ClinVar dbSNP
12g.47976052C>TCA127173COL2A1c.3301G>A (p.Gly1101Ser)
c.3508G>A (p.Gly1170Ser)
n.2594G>A
n.361G>A
c.3652G>A (p.Gly1218Ser)
c.3649G>A (p.Gly1217Ser)
c.2596G>A (p.Gly866Ser)
c.3442G>A (p.Gly1148Ser)
c.2962G>A (p.Gly988Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47976053G>ACA6534716COL2A1c.3300C>T (p.Val1100=)
c.3507C>T (p.Val1169=)
n.2593C>T
n.360C>T
c.3651C>T (p.Val1217=)
c.3648C>T (p.Val1216=)
c.2595C>T (p.Val865=)
c.3441C>T (p.Val1147=)
c.2961C>T (p.Val987=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976053G>CCA479451720COL2A1c.3300C>G (p.Val1100=)
c.3507C>G (p.Val1169=)
n.2593C>G
n.360C>G
c.3651C>G (p.Val1217=)
c.3648C>G (p.Val1216=)
c.2595C>G (p.Val865=)
c.3441C>G (p.Val1147=)
c.2961C>G (p.Val987=)
12g.47976053G=CA2034474964COL2A1c.3300C= (p.Val1100=)
c.3507C= (p.Val1169=)
n.2593C=
n.360C=
c.3651C= (p.Val1217=)
c.3648C= (p.Val1216=)
c.2595C= (p.Val865=)
c.3441C= (p.Val1147=)
c.2961C= (p.Val987=)
12g.47976053G>TCA479451723COL2A1c.3300C>A (p.Val1100=)
c.3507C>A (p.Val1169=)
n.2593C>A
n.360C>A
c.3651C>A (p.Val1217=)
c.3648C>A (p.Val1216=)
c.2595C>A (p.Val865=)
c.3441C>A (p.Val1147=)
c.2961C>A (p.Val987=)
12g.47976054A=CA2034474968COL2A1c.3299T= (p.Val1100=)
c.3506T= (p.Val1169=)
n.2592T=
n.359T=
c.3650T= (p.Val1217=)
c.3647T= (p.Val1216=)
c.2594T= (p.Val865=)
c.3440T= (p.Val1147=)
c.2960T= (p.Val987=)
12g.47976054A>CCA384537427COL2A1c.3299T>G (p.Val1100Gly)
c.3506T>G (p.Val1169Gly)
n.2592T>G
n.359T>G
c.3650T>G (p.Val1217Gly)
c.3647T>G (p.Val1216Gly)
c.2594T>G (p.Val865Gly)
c.3440T>G (p.Val1147Gly)
c.2960T>G (p.Val987Gly)
12g.47976054A>GCA384537428COL2A1c.3299T>C (p.Val1100Ala)
c.3506T>C (p.Val1169Ala)
n.2592T>C
n.359T>C
c.3650T>C (p.Val1217Ala)
c.3647T>C (p.Val1216Ala)
c.2594T>C (p.Val865Ala)
c.3440T>C (p.Val1147Ala)
c.2960T>C (p.Val987Ala)
 dbSNP gnomAD v4
12g.47976054A>TCA384537429COL2A1c.3299T>A (p.Val1100Asp)
c.3506T>A (p.Val1169Asp)
n.2592T>A
n.359T>A
c.3650T>A (p.Val1217Asp)
c.3647T>A (p.Val1216Asp)
c.2594T>A (p.Val865Asp)
c.3440T>A (p.Val1147Asp)
c.2960T>A (p.Val987Asp)
 gnomAD v4
12g.47976055C>ACA384537430COL2A1c.3298G>T (p.Val1100Phe)
c.3505G>T (p.Val1169Phe)
n.2591G>T
n.358G>T
c.3649G>T (p.Val1217Phe)
c.3646G>T (p.Val1216Phe)
c.2593G>T (p.Val865Phe)
c.3439G>T (p.Val1147Phe)
c.2959G>T (p.Val987Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.47976055C=CA2034474978COL2A1c.3298G= (p.Val1100=)
c.3505G= (p.Val1169=)
n.2591G=
n.358G=
c.3649G= (p.Val1217=)
c.3646G= (p.Val1216=)
c.2593G= (p.Val865=)
c.3439G= (p.Val1147=)
c.2959G= (p.Val987=)
12g.47976055C>GCA384537431COL2A1c.3298G>C (p.Val1100Leu)
c.3505G>C (p.Val1169Leu)
n.2591G>C
n.358G>C
c.3649G>C (p.Val1217Leu)
c.3646G>C (p.Val1216Leu)
c.2593G>C (p.Val865Leu)
c.3439G>C (p.Val1147Leu)
c.2959G>C (p.Val987Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.47976055C>TCA6534717COL2A1c.3298G>A (p.Val1100Ile)
c.3505G>A (p.Val1169Ile)
n.2591G>A
n.358G>A
c.3649G>A (p.Val1217Ile)
c.3646G>A (p.Val1216Ile)
c.2593G>A (p.Val865Ile)
c.3439G>A (p.Val1147Ile)
c.2959G>A (p.Val987Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47976056G>ACA6534718COL2A1c.3297C>T (p.Pro1099=)
c.3504C>T (p.Pro1168=)
n.2590C>T
n.357C>T
c.3648C>T (p.Pro1216=)
c.3645C>T (p.Pro1215=)
c.2592C>T (p.Pro864=)
c.3438C>T (p.Pro1146=)
c.2958C>T (p.Pro986=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976056G>CCA479451736COL2A1c.3297C>G (p.Pro1099=)
c.3504C>G (p.Pro1168=)
n.2590C>G
n.357C>G
c.3648C>G (p.Pro1216=)
c.3645C>G (p.Pro1215=)
c.2592C>G (p.Pro864=)
c.3438C>G (p.Pro1146=)
c.2958C>G (p.Pro986=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47976056G=CA2034474987COL2A1c.3297C= (p.Pro1099=)
c.3504C= (p.Pro1168=)
n.2590C=
n.357C=
c.3648C= (p.Pro1216=)
c.3645C= (p.Pro1215=)
c.2592C= (p.Pro864=)
c.3438C= (p.Pro1146=)
c.2958C= (p.Pro986=)
12g.47976056G>TCA479451738COL2A1c.3297C>A (p.Pro1099=)
c.3504C>A (p.Pro1168=)
n.2590C>A
n.357C>A
c.3648C>A (p.Pro1216=)
c.3645C>A (p.Pro1215=)
c.2592C>A (p.Pro864=)
c.3438C>A (p.Pro1146=)
c.2958C>A (p.Pro986=)
 ClinVar gnomAD v4
12g.47976057G>ACA384537433COL2A1c.3296C>T (p.Pro1099Leu)
c.3503C>T (p.Pro1168Leu)
n.2589C>T
n.356C>T
c.3647C>T (p.Pro1216Leu)
c.3644C>T (p.Pro1215Leu)
c.2591C>T (p.Pro864Leu)
c.3437C>T (p.Pro1146Leu)
c.2957C>T (p.Pro986Leu)
12g.47976057G>CCA384537432COL2A1c.3296C>G (p.Pro1099Arg)
c.3503C>G (p.Pro1168Arg)
n.2589C>G
n.356C>G
c.3647C>G (p.Pro1216Arg)
c.3644C>G (p.Pro1215Arg)
c.2591C>G (p.Pro864Arg)
c.3437C>G (p.Pro1146Arg)
c.2957C>G (p.Pro986Arg)
12g.47976057G>TCA384537434COL2A1c.3296C>A (p.Pro1099His)
c.3503C>A (p.Pro1168His)
n.2589C>A
n.356C>A
c.3647C>A (p.Pro1216His)
c.3644C>A (p.Pro1215His)
c.2591C>A (p.Pro864His)
c.3437C>A (p.Pro1146His)
c.2957C>A (p.Pro986His)
12g.47976058G>ACA384537435COL2A1c.3295C>T (p.Pro1099Ser)
c.3502C>T (p.Pro1168Ser)
n.2588C>T
n.355C>T
c.3646C>T (p.Pro1216Ser)
c.3643C>T (p.Pro1215Ser)
c.2590C>T (p.Pro864Ser)
c.3436C>T (p.Pro1146Ser)
c.2956C>T (p.Pro986Ser)
 gnomAD v4
12g.47976058G>CCA384537437COL2A1c.3295C>G (p.Pro1099Ala)
c.3502C>G (p.Pro1168Ala)
n.2588C>G
n.355C>G
c.3646C>G (p.Pro1216Ala)
c.3643C>G (p.Pro1215Ala)
c.2590C>G (p.Pro864Ala)
c.3436C>G (p.Pro1146Ala)
c.2956C>G (p.Pro986Ala)
12g.47976058G>TCA384537436COL2A1c.3295C>A (p.Pro1099Thr)
c.3502C>A (p.Pro1168Thr)
n.2588C>A
n.355C>A
c.3646C>A (p.Pro1216Thr)
c.3643C>A (p.Pro1215Thr)
c.2590C>A (p.Pro864Thr)
c.3436C>A (p.Pro1146Thr)
c.2956C>A (p.Pro986Thr)
12g.47976059G>ACA479451748COL2A1c.3294C>T (p.Gly1098=)
c.3501C>T (p.Gly1167=)
n.2587C>T
n.354C>T
c.3645C>T (p.Gly1215=)
c.3642C>T (p.Gly1214=)
c.2589C>T (p.Gly863=)
c.3435C>T (p.Gly1145=)
c.2955C>T (p.Gly985=)
 ClinVar
12g.47976059G>CCA479451750COL2A1c.3294C>G (p.Gly1098=)
c.3501C>G (p.Gly1167=)
n.2587C>G
n.354C>G
c.3645C>G (p.Gly1215=)
c.3642C>G (p.Gly1214=)
c.2589C>G (p.Gly863=)
c.3435C>G (p.Gly1145=)
c.2955C>G (p.Gly985=)
12g.47976059G>TCA479451751COL2A1c.3294C>A (p.Gly1098=)
c.3501C>A (p.Gly1167=)
n.2587C>A
n.354C>A
c.3645C>A (p.Gly1215=)
c.3642C>A (p.Gly1214=)
c.2589C>A (p.Gly863=)
c.3435C>A (p.Gly1145=)
c.2955C>A (p.Gly985=)
 gnomAD v4
12g.47976060C>ACA384537438COL2A1c.3293G>T (p.Gly1098Val)
c.3500G>T (p.Gly1167Val)
n.2586G>T
n.353G>T
c.3644G>T (p.Gly1215Val)
c.3641G>T (p.Gly1214Val)
c.2588G>T (p.Gly863Val)
c.3434G>T (p.Gly1145Val)
c.2954G>T (p.Gly985Val)
 COSMIC COSMIC
12g.47976060C>GCA384537440COL2A1c.3293G>C (p.Gly1098Ala)
c.3500G>C (p.Gly1167Ala)
n.2586G>C
n.353G>C
c.3644G>C (p.Gly1215Ala)
c.3641G>C (p.Gly1214Ala)
c.2588G>C (p.Gly863Ala)
c.3434G>C (p.Gly1145Ala)
c.2954G>C (p.Gly985Ala)
12g.47976060C>TCA384537439COL2A1c.3293G>A (p.Gly1098Asp)
c.3500G>A (p.Gly1167Asp)
n.2586G>A
n.353G>A
c.3644G>A (p.Gly1215Asp)
c.3641G>A (p.Gly1214Asp)
c.2588G>A (p.Gly863Asp)
c.3434G>A (p.Gly1145Asp)
c.2954G>A (p.Gly985Asp)
12g.47976061C>ACA384537441COL2A1c.3292G>T (p.Gly1098Cys)
c.3499G>T (p.Gly1167Cys)
n.2585G>T
n.352G>T
c.3643G>T (p.Gly1215Cys)
c.3640G>T (p.Gly1214Cys)
c.2587G>T (p.Gly863Cys)
c.3433G>T (p.Gly1145Cys)
c.2953G>T (p.Gly985Cys)
12g.47976061C>GCA384537442COL2A1c.3292G>C (p.Gly1098Arg)
c.3499G>C (p.Gly1167Arg)
n.2585G>C
n.352G>C
c.3643G>C (p.Gly1215Arg)
c.3640G>C (p.Gly1214Arg)
c.2587G>C (p.Gly863Arg)
c.3433G>C (p.Gly1145Arg)
c.2953G>C (p.Gly985Arg)
12g.47976061C>TCA384537443COL2A1c.3292G>A (p.Gly1098Ser)
c.3499G>A (p.Gly1167Ser)
n.2585G>A
n.352G>A
c.3643G>A (p.Gly1215Ser)
c.3640G>A (p.Gly1214Ser)
c.2587G>A (p.Gly863Ser)
c.3433G>A (p.Gly1145Ser)
c.2953G>A (p.Gly985Ser)
12g.47976062A=CA2034474993COL2A1c.3291T= (p.Pro1097=)
c.3498T= (p.Pro1166=)
n.2584T=
n.351T=
c.3642T= (p.Pro1214=)
c.3639T= (p.Pro1213=)
c.2586T= (p.Pro862=)
c.3432T= (p.Pro1144=)
c.2952T= (p.Pro984=)
12g.47976062A>CCA6534719COL2A1c.3291T>G (p.Pro1097=)
c.3498T>G (p.Pro1166=)
n.2584T>G
n.351T>G
c.3642T>G (p.Pro1214=)
c.3639T>G (p.Pro1213=)
c.2586T>G (p.Pro862=)
c.3432T>G (p.Pro1144=)
c.2952T>G (p.Pro984=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47976062A>GCA479451762COL2A1c.3291T>C (p.Pro1097=)
c.3498T>C (p.Pro1166=)
n.2584T>C
n.351T>C
c.3642T>C (p.Pro1214=)
c.3639T>C (p.Pro1213=)
c.2586T>C (p.Pro862=)
c.3432T>C (p.Pro1144=)
c.2952T>C (p.Pro984=)
 dbSNP
12g.47976062A>TCA479451764COL2A1c.3291T>A (p.Pro1097=)
c.3498T>A (p.Pro1166=)
n.2584T>A
n.351T>A
c.3642T>A (p.Pro1214=)
c.3639T>A (p.Pro1213=)
c.2586T>A (p.Pro862=)
c.3432T>A (p.Pro1144=)
c.2952T>A (p.Pro984=)

Number of alleles fetched