Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33171155dup | CA2697553229 | COL11A2 | c.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 |
6 | g.33171155del | CA658655575 | COL11A2 | c.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?) | |
6 | g.33171152G>A | CA3750551 | COL11A2 | c.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 |
6 | g.33171152G>C | CA363634641 | COL11A2 | c.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) | |
6 | g.33171152G= | CA1619896934 | COL11A2 | c.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=) | |
6 | g.33171152G>T | CA363634626 | COL11A2 | c.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) | |
6 | g.33171153G>A | CA449876586 | COL11A2 | c.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 |
6 | g.33171153G>C | CA3750552 | COL11A2 | c.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 |
6 | g.33171153G= | CA1619896935 | COL11A2 | c.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=) | |
6 | g.33171153G>T | CA449876589 | COL11A2 | c.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 |
6 | g.33171154G>A | CA363634650 | COL11A2 | c.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) | |
6 | g.33171154G>C | CA363634651 | COL11A2 | c.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 |
6 | g.33171154G= | CA1619896936 | COL11A2 | c.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=) | |
6 | g.33171154G>T | CA3750553 | COL11A2 | c.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 |
6 | g.33171155G>A | CA3750555 | COL11A2 | c.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 |
6 | g.33171155G>C | CA3750554 | COL11A2 | c.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 |
6 | g.33171155G= | CA1619896937 | COL11A2 | c.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=) | |
6 | g.33171155G>T | CA363634657 | COL11A2 | c.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) | |
6 | g.33171156T>A | CA449876603 | COL11A2 | c.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=) | |
6 | g.33171156T>C | CA449876601 | COL11A2 | c.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 |
6 | g.33171156T>G | CA449876600 | COL11A2 | c.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=) | |
6 | g.33171156T= | CA1619896938 | COL11A2 | c.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=) | |
6 | g.33171157C>A | CA363634662 | COL11A2 | c.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) | |
6 | g.33171157C>G | CA363634664 | COL11A2 | c.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) | |
6 | g.33171157C>T | CA363634666 | COL11A2 | c.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) | |
6 | g.33171158C>A | CA363634671 | COL11A2 | c.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) | |
6 | g.33171158C>G | CA363634673 | COL11A2 | c.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) | |
6 | g.33171158C>T | CA363634678 | COL11A2 | c.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) | |
6 | g.33171159A>C | CA449876612 | COL11A2 | c.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=) | |
6 | g.33171159A>G | CA449876614 | COL11A2 | c.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=) | |
6 | g.33171159A>T | CA449876617 | COL11A2 | c.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=) | |
6 | g.33171160G>A | CA363634687 | COL11A2 | c.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) | |
6 | g.33171160G>C | CA363634716 | COL11A2 | c.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) | |
6 | g.33171160G>T | CA363634714 | COL11A2 | c.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) | |
6 | g.33171161del | CA2678230883 | COL11A2 | c.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 |
6 | g.33171161G>A | CA363634719 | COL11A2 | c.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 |
6 | g.33171161G>C | CA363634724 | COL11A2 | c.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) | |
6 | g.33171161G= | CA1619896939 | COL11A2 | c.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=) | |
6 | g.33171161G>T | CA363634720 | COL11A2 | c.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) | |
6 | g.33171162A= | CA1619896940 | COL11A2 | c.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=) | |
6 | g.33171162A>C | CA449876627 | COL11A2 | c.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 |
6 | g.33171162A>G | CA449876629 | COL11A2 | c.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 |
6 | g.33171162A>T | CA449876631 | COL11A2 | c.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=) | |
6 | g.33171163G>A | CA363634733 | COL11A2 | c.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 |
6 | g.33171163G>C | CA363634738 | COL11A2 | c.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 |
6 | g.33171163G= | CA1619896941 | COL11A2 | c.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=) | |
6 | g.33171163G>T | CA363634752 | COL11A2 | c.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) | |
6 | g.33171164G>A | CA3750556 | COL11A2 | c.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 |
6 | g.33171164G>C | CA363634789 | COL11A2 | c.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 |
6 | g.33171164G= | CA1619896942 | COL11A2 | c.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=) |