Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33171155dupCA2697553229COL11A2c.3329dup (p.Gly1111TrpfsTer?)
c.3008dup (p.Gly1004TrpfsTer?)
c.3071dup (p.Gly1025TrpfsTer?)
n.273-5335dup
c.2483dup (p.Gly829TrpfsTer?)
c.2615dup (p.Gly873TrpfsTer?)
c.2435dup (p.Gly813TrpfsTer?)
c.2372dup (p.Gly792TrpfsTer?)
c.2216dup (p.Gly740TrpfsTer?)
c.2147dup (p.Gly717TrpfsTer?)
ClinVar
6g.33171155delCA658655575COL11A2c.3329del (p.Pro1110LeufsTer?)
c.3008del (p.Pro1003LeufsTer?)
c.3071del (p.Pro1024LeufsTer?)
n.273-5335del
c.2483del (p.Pro828LeufsTer?)
c.2615del (p.Pro872LeufsTer?)
c.2435del (p.Pro812LeufsTer?)
c.2372del (p.Pro791LeufsTer?)
c.2216del (p.Pro739LeufsTer?)
c.2147del (p.Pro716LeufsTer?)
6g.33171152G>ACA3750551COL11A2c.3328C>T (p.Pro1110Ser)
c.3007C>T (p.Pro1003Ser)
c.3070C>T (p.Pro1024Ser)
n.273-5336C>T
c.2482C>T (p.Pro828Ser)
c.2614C>T (p.Pro872Ser)
c.2434C>T (p.Pro812Ser)
c.2371C>T (p.Pro791Ser)
c.2215C>T (p.Pro739Ser)
c.2146C>T (p.Pro716Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171152G>CCA363634641COL11A2c.3328C>G (p.Pro1110Ala)
c.3007C>G (p.Pro1003Ala)
c.3070C>G (p.Pro1024Ala)
n.273-5336C>G
c.2482C>G (p.Pro828Ala)
c.2614C>G (p.Pro872Ala)
c.2434C>G (p.Pro812Ala)
c.2371C>G (p.Pro791Ala)
c.2215C>G (p.Pro739Ala)
c.2146C>G (p.Pro716Ala)
6g.33171152G=CA1619896934COL11A2c.3328C= (p.Pro1110=)
c.3007C= (p.Pro1003=)
c.3070C= (p.Pro1024=)
n.273-5336C=
c.2482C= (p.Pro828=)
c.2614C= (p.Pro872=)
c.2434C= (p.Pro812=)
c.2371C= (p.Pro791=)
c.2215C= (p.Pro739=)
c.2146C= (p.Pro716=)
6g.33171152G>TCA363634626COL11A2c.3328C>A (p.Pro1110Thr)
c.3007C>A (p.Pro1003Thr)
c.3070C>A (p.Pro1024Thr)
n.273-5336C>A
c.2482C>A (p.Pro828Thr)
c.2614C>A (p.Pro872Thr)
c.2434C>A (p.Pro812Thr)
c.2371C>A (p.Pro791Thr)
c.2215C>A (p.Pro739Thr)
c.2146C>A (p.Pro716Thr)
6g.33171153G>ACA449876586COL11A2c.3327C>T (p.Pro1109=)
c.3006C>T (p.Pro1002=)
c.3069C>T (p.Pro1023=)
n.273-5337C>T
c.2481C>T (p.Pro827=)
c.2613C>T (p.Pro871=)
c.2433C>T (p.Pro811=)
c.2370C>T (p.Pro790=)
c.2214C>T (p.Pro738=)
c.2145C>T (p.Pro715=)
gnomAD v4
6g.33171153G>CCA3750552COL11A2c.3327C>G (p.Pro1109=)
c.3006C>G (p.Pro1002=)
c.3069C>G (p.Pro1023=)
n.273-5337C>G
c.2481C>G (p.Pro827=)
c.2613C>G (p.Pro871=)
c.2433C>G (p.Pro811=)
c.2370C>G (p.Pro790=)
c.2214C>G (p.Pro738=)
c.2145C>G (p.Pro715=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171153G=CA1619896935COL11A2c.3327C= (p.Pro1109=)
c.3006C= (p.Pro1002=)
c.3069C= (p.Pro1023=)
n.273-5337C=
c.2481C= (p.Pro827=)
c.2613C= (p.Pro871=)
c.2433C= (p.Pro811=)
c.2370C= (p.Pro790=)
c.2214C= (p.Pro738=)
c.2145C= (p.Pro715=)
6g.33171153G>TCA449876589COL11A2c.3327C>A (p.Pro1109=)
c.3006C>A (p.Pro1002=)
c.3069C>A (p.Pro1023=)
n.273-5337C>A
c.2481C>A (p.Pro827=)
c.2613C>A (p.Pro871=)
c.2433C>A (p.Pro811=)
c.2370C>A (p.Pro790=)
c.2214C>A (p.Pro738=)
c.2145C>A (p.Pro715=)
gnomAD v4
6g.33171154G>ACA363634650COL11A2c.3326C>T (p.Pro1109Leu)
c.3005C>T (p.Pro1002Leu)
c.3068C>T (p.Pro1023Leu)
n.273-5338C>T
c.2480C>T (p.Pro827Leu)
c.2612C>T (p.Pro871Leu)
c.2432C>T (p.Pro811Leu)
c.2369C>T (p.Pro790Leu)
c.2213C>T (p.Pro738Leu)
c.2144C>T (p.Pro715Leu)
6g.33171154G>CCA363634651COL11A2c.3326C>G (p.Pro1109Arg)
c.3005C>G (p.Pro1002Arg)
c.3068C>G (p.Pro1023Arg)
n.273-5338C>G
c.2480C>G (p.Pro827Arg)
c.2612C>G (p.Pro871Arg)
c.2432C>G (p.Pro811Arg)
c.2369C>G (p.Pro790Arg)
c.2213C>G (p.Pro738Arg)
c.2144C>G (p.Pro715Arg)
gnomAD v4
6g.33171154G=CA1619896936COL11A2c.3326C= (p.Pro1109=)
c.3005C= (p.Pro1002=)
c.3068C= (p.Pro1023=)
n.273-5338C=
c.2480C= (p.Pro827=)
c.2612C= (p.Pro871=)
c.2432C= (p.Pro811=)
c.2369C= (p.Pro790=)
c.2213C= (p.Pro738=)
c.2144C= (p.Pro715=)
6g.33171154G>TCA3750553COL11A2c.3326C>A (p.Pro1109His)
c.3005C>A (p.Pro1002His)
c.3068C>A (p.Pro1023His)
n.273-5338C>A
c.2480C>A (p.Pro827His)
c.2612C>A (p.Pro871His)
c.2432C>A (p.Pro811His)
c.2369C>A (p.Pro790His)
c.2213C>A (p.Pro738His)
c.2144C>A (p.Pro715His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G>ACA3750555COL11A2c.3325C>T (p.Pro1109Ser)
c.3004C>T (p.Pro1002Ser)
c.3067C>T (p.Pro1023Ser)
n.273-5339C>T
c.2479C>T (p.Pro827Ser)
c.2611C>T (p.Pro871Ser)
c.2431C>T (p.Pro811Ser)
c.2368C>T (p.Pro790Ser)
c.2212C>T (p.Pro738Ser)
c.2143C>T (p.Pro715Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G>CCA3750554COL11A2c.3325C>G (p.Pro1109Ala)
c.3004C>G (p.Pro1002Ala)
c.3067C>G (p.Pro1023Ala)
n.273-5339C>G
c.2479C>G (p.Pro827Ala)
c.2611C>G (p.Pro871Ala)
c.2431C>G (p.Pro811Ala)
c.2368C>G (p.Pro790Ala)
c.2212C>G (p.Pro738Ala)
c.2143C>G (p.Pro715Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33171155G=CA1619896937COL11A2c.3325C= (p.Pro1109=)
c.3004C= (p.Pro1002=)
c.3067C= (p.Pro1023=)
n.273-5339C=
c.2479C= (p.Pro827=)
c.2611C= (p.Pro871=)
c.2431C= (p.Pro811=)
c.2368C= (p.Pro790=)
c.2212C= (p.Pro738=)
c.2143C= (p.Pro715=)
6g.33171155G>TCA363634657COL11A2c.3325C>A (p.Pro1109Thr)
c.3004C>A (p.Pro1002Thr)
c.3067C>A (p.Pro1023Thr)
n.273-5339C>A
c.2479C>A (p.Pro827Thr)
c.2611C>A (p.Pro871Thr)
c.2431C>A (p.Pro811Thr)
c.2368C>A (p.Pro790Thr)
c.2212C>A (p.Pro738Thr)
c.2143C>A (p.Pro715Thr)
6g.33171156T>ACA449876603COL11A2c.3324A>T (p.Gly1108=)
c.3003A>T (p.Gly1001=)
c.3066A>T (p.Gly1022=)
n.273-5340A>T
c.2478A>T (p.Gly826=)
c.2610A>T (p.Gly870=)
c.2430A>T (p.Gly810=)
c.2367A>T (p.Gly789=)
c.2211A>T (p.Gly737=)
c.2142A>T (p.Gly714=)
6g.33171156T>CCA449876601COL11A2c.3324A>G (p.Gly1108=)
c.3003A>G (p.Gly1001=)
c.3066A>G (p.Gly1022=)
n.273-5340A>G
c.2478A>G (p.Gly826=)
c.2610A>G (p.Gly870=)
c.2430A>G (p.Gly810=)
c.2367A>G (p.Gly789=)
c.2211A>G (p.Gly737=)
c.2142A>G (p.Gly714=)
ClinVar dbSNP gnomAD v2
6g.33171156T>GCA449876600COL11A2c.3324A>C (p.Gly1108=)
c.3003A>C (p.Gly1001=)
c.3066A>C (p.Gly1022=)
n.273-5340A>C
c.2478A>C (p.Gly826=)
c.2610A>C (p.Gly870=)
c.2430A>C (p.Gly810=)
c.2367A>C (p.Gly789=)
c.2211A>C (p.Gly737=)
c.2142A>C (p.Gly714=)
6g.33171156T=CA1619896938COL11A2c.3324A= (p.Gly1108=)
c.3003A= (p.Gly1001=)
c.3066A= (p.Gly1022=)
n.273-5340A=
c.2478A= (p.Gly826=)
c.2610A= (p.Gly870=)
c.2430A= (p.Gly810=)
c.2367A= (p.Gly789=)
c.2211A= (p.Gly737=)
c.2142A= (p.Gly714=)
6g.33171157C>ACA363634662COL11A2c.3323G>T (p.Gly1108Val)
c.3002G>T (p.Gly1001Val)
c.3065G>T (p.Gly1022Val)
n.273-5341G>T
c.2477G>T (p.Gly826Val)
c.2609G>T (p.Gly870Val)
c.2429G>T (p.Gly810Val)
c.2366G>T (p.Gly789Val)
c.2210G>T (p.Gly737Val)
c.2141G>T (p.Gly714Val)
6g.33171157C>GCA363634664COL11A2c.3323G>C (p.Gly1108Ala)
c.3002G>C (p.Gly1001Ala)
c.3065G>C (p.Gly1022Ala)
n.273-5341G>C
c.2477G>C (p.Gly826Ala)
c.2609G>C (p.Gly870Ala)
c.2429G>C (p.Gly810Ala)
c.2366G>C (p.Gly789Ala)
c.2210G>C (p.Gly737Ala)
c.2141G>C (p.Gly714Ala)
6g.33171157C>TCA363634666COL11A2c.3323G>A (p.Gly1108Glu)
c.3002G>A (p.Gly1001Glu)
c.3065G>A (p.Gly1022Glu)
n.273-5341G>A
c.2477G>A (p.Gly826Glu)
c.2609G>A (p.Gly870Glu)
c.2429G>A (p.Gly810Glu)
c.2366G>A (p.Gly789Glu)
c.2210G>A (p.Gly737Glu)
c.2141G>A (p.Gly714Glu)
6g.33171158C>ACA363634671COL11A2c.3322G>T (p.Gly1108Ter)
c.3001G>T (p.Gly1001Ter)
c.3064G>T (p.Gly1022Ter)
n.273-5342G>T
c.2476G>T (p.Gly826Ter)
c.2608G>T (p.Gly870Ter)
c.2428G>T (p.Gly810Ter)
c.2365G>T (p.Gly789Ter)
c.2209G>T (p.Gly737Ter)
c.2140G>T (p.Gly714Ter)
6g.33171158C>GCA363634673COL11A2c.3322G>C (p.Gly1108Arg)
c.3001G>C (p.Gly1001Arg)
c.3064G>C (p.Gly1022Arg)
n.273-5342G>C
c.2476G>C (p.Gly826Arg)
c.2608G>C (p.Gly870Arg)
c.2428G>C (p.Gly810Arg)
c.2365G>C (p.Gly789Arg)
c.2209G>C (p.Gly737Arg)
c.2140G>C (p.Gly714Arg)
6g.33171158C>TCA363634678COL11A2c.3322G>A (p.Gly1108Arg)
c.3001G>A (p.Gly1001Arg)
c.3064G>A (p.Gly1022Arg)
n.273-5342G>A
c.2476G>A (p.Gly826Arg)
c.2608G>A (p.Gly870Arg)
c.2428G>A (p.Gly810Arg)
c.2365G>A (p.Gly789Arg)
c.2209G>A (p.Gly737Arg)
c.2140G>A (p.Gly714Arg)
6g.33171159A>CCA449876612COL11A2c.3321T>G (p.Pro1107=)
c.3000T>G (p.Pro1000=)
c.3063T>G (p.Pro1021=)
n.273-5343T>G
c.2475T>G (p.Pro825=)
c.2607T>G (p.Pro869=)
c.2427T>G (p.Pro809=)
c.2364T>G (p.Pro788=)
c.2208T>G (p.Pro736=)
c.2139T>G (p.Pro713=)
6g.33171159A>GCA449876614COL11A2c.3321T>C (p.Pro1107=)
c.3000T>C (p.Pro1000=)
c.3063T>C (p.Pro1021=)
n.273-5343T>C
c.2475T>C (p.Pro825=)
c.2607T>C (p.Pro869=)
c.2427T>C (p.Pro809=)
c.2364T>C (p.Pro788=)
c.2208T>C (p.Pro736=)
c.2139T>C (p.Pro713=)
6g.33171159A>TCA449876617COL11A2c.3321T>A (p.Pro1107=)
c.3000T>A (p.Pro1000=)
c.3063T>A (p.Pro1021=)
n.273-5343T>A
c.2475T>A (p.Pro825=)
c.2607T>A (p.Pro869=)
c.2427T>A (p.Pro809=)
c.2364T>A (p.Pro788=)
c.2208T>A (p.Pro736=)
c.2139T>A (p.Pro713=)
6g.33171160G>ACA363634687COL11A2c.3320C>T (p.Pro1107Leu)
c.2999C>T (p.Pro1000Leu)
c.3062C>T (p.Pro1021Leu)
n.273-5344C>T
c.2474C>T (p.Pro825Leu)
c.2606C>T (p.Pro869Leu)
c.2426C>T (p.Pro809Leu)
c.2363C>T (p.Pro788Leu)
c.2207C>T (p.Pro736Leu)
c.2138C>T (p.Pro713Leu)
6g.33171160G>CCA363634716COL11A2c.3320C>G (p.Pro1107Arg)
c.2999C>G (p.Pro1000Arg)
c.3062C>G (p.Pro1021Arg)
n.273-5344C>G
c.2474C>G (p.Pro825Arg)
c.2606C>G (p.Pro869Arg)
c.2426C>G (p.Pro809Arg)
c.2363C>G (p.Pro788Arg)
c.2207C>G (p.Pro736Arg)
c.2138C>G (p.Pro713Arg)
6g.33171160G>TCA363634714COL11A2c.3320C>A (p.Pro1107His)
c.2999C>A (p.Pro1000His)
c.3062C>A (p.Pro1021His)
n.273-5344C>A
c.2474C>A (p.Pro825His)
c.2606C>A (p.Pro869His)
c.2426C>A (p.Pro809His)
c.2363C>A (p.Pro788His)
c.2207C>A (p.Pro736His)
c.2138C>A (p.Pro713His)
6g.33171161delCA2678230883COL11A2c.3320del (p.Pro1107LeufsTer?)
c.2999del (p.Pro1000LeufsTer?)
c.3062del (p.Pro1021LeufsTer?)
n.273-5344del
c.2474del (p.Pro825LeufsTer?)
c.2606del (p.Pro869LeufsTer?)
c.2426del (p.Pro809LeufsTer?)
c.2363del (p.Pro788LeufsTer?)
c.2207del (p.Pro736LeufsTer?)
c.2138del (p.Pro713LeufsTer?)
gnomAD v4
6g.33171161G>ACA363634719COL11A2c.3319C>T (p.Pro1107Ser)
c.2998C>T (p.Pro1000Ser)
c.3061C>T (p.Pro1021Ser)
n.273-5345C>T
c.2473C>T (p.Pro825Ser)
c.2605C>T (p.Pro869Ser)
c.2425C>T (p.Pro809Ser)
c.2362C>T (p.Pro788Ser)
c.2206C>T (p.Pro736Ser)
c.2137C>T (p.Pro713Ser)
dbSNP gnomAD v2 gnomAD v4
6g.33171161G>CCA363634724COL11A2c.3319C>G (p.Pro1107Ala)
c.2998C>G (p.Pro1000Ala)
c.3061C>G (p.Pro1021Ala)
n.273-5345C>G
c.2473C>G (p.Pro825Ala)
c.2605C>G (p.Pro869Ala)
c.2425C>G (p.Pro809Ala)
c.2362C>G (p.Pro788Ala)
c.2206C>G (p.Pro736Ala)
c.2137C>G (p.Pro713Ala)
6g.33171161G=CA1619896939COL11A2c.3319C= (p.Pro1107=)
c.2998C= (p.Pro1000=)
c.3061C= (p.Pro1021=)
n.273-5345C=
c.2473C= (p.Pro825=)
c.2605C= (p.Pro869=)
c.2425C= (p.Pro809=)
c.2362C= (p.Pro788=)
c.2206C= (p.Pro736=)
c.2137C= (p.Pro713=)
6g.33171161G>TCA363634720COL11A2c.3319C>A (p.Pro1107Thr)
c.2998C>A (p.Pro1000Thr)
c.3061C>A (p.Pro1021Thr)
n.273-5345C>A
c.2473C>A (p.Pro825Thr)
c.2605C>A (p.Pro869Thr)
c.2425C>A (p.Pro809Thr)
c.2362C>A (p.Pro788Thr)
c.2206C>A (p.Pro736Thr)
c.2137C>A (p.Pro713Thr)
6g.33171162A=CA1619896940COL11A2c.3318T= (p.Pro1106=)
c.2997T= (p.Pro999=)
c.3060T= (p.Pro1020=)
n.273-5346T=
c.2472T= (p.Pro824=)
c.2604T= (p.Pro868=)
c.2424T= (p.Pro808=)
c.2361T= (p.Pro787=)
c.2205T= (p.Pro735=)
c.2136T= (p.Pro712=)
6g.33171162A>CCA449876627COL11A2c.3318T>G (p.Pro1106=)
c.2997T>G (p.Pro999=)
c.3060T>G (p.Pro1020=)
n.273-5346T>G
c.2472T>G (p.Pro824=)
c.2604T>G (p.Pro868=)
c.2424T>G (p.Pro808=)
c.2361T>G (p.Pro787=)
c.2205T>G (p.Pro735=)
c.2136T>G (p.Pro712=)
gnomAD v4
6g.33171162A>GCA449876629COL11A2c.3318T>C (p.Pro1106=)
c.2997T>C (p.Pro999=)
c.3060T>C (p.Pro1020=)
n.273-5346T>C
c.2472T>C (p.Pro824=)
c.2604T>C (p.Pro868=)
c.2424T>C (p.Pro808=)
c.2361T>C (p.Pro787=)
c.2205T>C (p.Pro735=)
c.2136T>C (p.Pro712=)
dbSNP gnomAD v2
6g.33171162A>TCA449876631COL11A2c.3318T>A (p.Pro1106=)
c.2997T>A (p.Pro999=)
c.3060T>A (p.Pro1020=)
n.273-5346T>A
c.2472T>A (p.Pro824=)
c.2604T>A (p.Pro868=)
c.2424T>A (p.Pro808=)
c.2361T>A (p.Pro787=)
c.2205T>A (p.Pro735=)
c.2136T>A (p.Pro712=)
6g.33171163G>ACA363634733COL11A2c.3317C>T (p.Pro1106Leu)
c.2996C>T (p.Pro999Leu)
c.3059C>T (p.Pro1020Leu)
n.273-5347C>T
c.2471C>T (p.Pro824Leu)
c.2603C>T (p.Pro868Leu)
c.2423C>T (p.Pro808Leu)
c.2360C>T (p.Pro787Leu)
c.2204C>T (p.Pro735Leu)
c.2135C>T (p.Pro712Leu)
dbSNP gnomAD v2 gnomAD v4
6g.33171163G>CCA363634738COL11A2c.3317C>G (p.Pro1106Arg)
c.2996C>G (p.Pro999Arg)
c.3059C>G (p.Pro1020Arg)
n.273-5347C>G
c.2471C>G (p.Pro824Arg)
c.2603C>G (p.Pro868Arg)
c.2423C>G (p.Pro808Arg)
c.2360C>G (p.Pro787Arg)
c.2204C>G (p.Pro735Arg)
c.2135C>G (p.Pro712Arg)
dbSNP gnomAD v2
6g.33171163G=CA1619896941COL11A2c.3317C= (p.Pro1106=)
c.2996C= (p.Pro999=)
c.3059C= (p.Pro1020=)
n.273-5347C=
c.2471C= (p.Pro824=)
c.2603C= (p.Pro868=)
c.2423C= (p.Pro808=)
c.2360C= (p.Pro787=)
c.2204C= (p.Pro735=)
c.2135C= (p.Pro712=)
6g.33171163G>TCA363634752COL11A2c.3317C>A (p.Pro1106His)
c.2996C>A (p.Pro999His)
c.3059C>A (p.Pro1020His)
n.273-5347C>A
c.2471C>A (p.Pro824His)
c.2603C>A (p.Pro868His)
c.2423C>A (p.Pro808His)
c.2360C>A (p.Pro787His)
c.2204C>A (p.Pro735His)
c.2135C>A (p.Pro712His)
6g.33171164G>ACA3750556COL11A2c.3316C>T (p.Pro1106Ser)
c.2995C>T (p.Pro999Ser)
c.3058C>T (p.Pro1020Ser)
n.273-5348C>T
c.2470C>T (p.Pro824Ser)
c.2602C>T (p.Pro868Ser)
c.2422C>T (p.Pro808Ser)
c.2359C>T (p.Pro787Ser)
c.2203C>T (p.Pro735Ser)
c.2134C>T (p.Pro712Ser)
ClinVar dbSNP ExAC gnomAD v2
6g.33171164G>CCA363634789COL11A2c.3316C>G (p.Pro1106Ala)
c.2995C>G (p.Pro999Ala)
c.3058C>G (p.Pro1020Ala)
n.273-5348C>G
c.2470C>G (p.Pro824Ala)
c.2602C>G (p.Pro868Ala)
c.2422C>G (p.Pro808Ala)
c.2359C>G (p.Pro787Ala)
c.2203C>G (p.Pro735Ala)
c.2134C>G (p.Pro712Ala)
gnomAD v4
6g.33171164G=CA1619896942COL11A2c.3316C= (p.Pro1106=)
c.2995C= (p.Pro999=)
c.3058C= (p.Pro1020=)
n.273-5348C=
c.2470C= (p.Pro824=)
c.2602C= (p.Pro868=)
c.2422C= (p.Pro808=)
c.2359C= (p.Pro787=)
c.2203C= (p.Pro735=)
c.2134C= (p.Pro712=)

Number of alleles fetched