| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33171763G>A | CA257707 | COL11A2 | c.3100C>T (p.Arg1034Cys) c.2779C>T (p.Arg927Cys) c.2842C>T (p.Arg948Cys) n.272+5246C>T c.2254C>T (p.Arg752Cys) c.2386C>T (p.Arg796Cys) c.2206C>T (p.Arg736Cys) c.2143C>T (p.Arg715Cys) c.1987C>T (p.Arg663Cys) c.1918C>T (p.Arg640Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.33171763G>C | CA363636491 | COL11A2 | c.3100C>G (p.Arg1034Gly) c.2779C>G (p.Arg927Gly) c.2842C>G (p.Arg948Gly) n.272+5246C>G c.2254C>G (p.Arg752Gly) c.2386C>G (p.Arg796Gly) c.2206C>G (p.Arg736Gly) c.2143C>G (p.Arg715Gly) c.1987C>G (p.Arg663Gly) c.1918C>G (p.Arg640Gly) | |
| 6 | g.33171763G= | CA1619897197 | COL11A2 | c.3100C= (p.Arg1034=) c.2779C= (p.Arg927=) c.2842C= (p.Arg948=) n.272+5246C= c.2254C= (p.Arg752=) c.2386C= (p.Arg796=) c.2206C= (p.Arg736=) c.2143C= (p.Arg715=) c.1987C= (p.Arg663=) c.1918C= (p.Arg640=) | |
| 6 | g.33171763G>T | CA363636492 | COL11A2 | c.3100C>A (p.Arg1034Ser) c.2779C>A (p.Arg927Ser) c.2842C>A (p.Arg948Ser) n.272+5246C>A c.2254C>A (p.Arg752Ser) c.2386C>A (p.Arg796Ser) c.2206C>A (p.Arg736Ser) c.2143C>A (p.Arg715Ser) c.1987C>A (p.Arg663Ser) c.1918C>A (p.Arg640Ser) | |
| 6 | g.33171764C>A | CA449878232 | COL11A2 | c.3099G>T (p.Gly1033=) c.2778G>T (p.Gly926=) c.2841G>T (p.Gly947=) n.272+5245G>T c.2253G>T (p.Gly751=) c.2385G>T (p.Gly795=) c.2205G>T (p.Gly735=) c.2142G>T (p.Gly714=) c.1986G>T (p.Gly662=) c.1917G>T (p.Gly639=) | |
| 6 | g.33171764C>G | CA449878229 | COL11A2 | c.3099G>C (p.Gly1033=) c.2778G>C (p.Gly926=) c.2841G>C (p.Gly947=) n.272+5245G>C c.2253G>C (p.Gly751=) c.2385G>C (p.Gly795=) c.2205G>C (p.Gly735=) c.2142G>C (p.Gly714=) c.1986G>C (p.Gly662=) c.1917G>C (p.Gly639=) | |
| 6 | g.33171764C>T | CA449878231 | COL11A2 | c.3099G>A (p.Gly1033=) c.2778G>A (p.Gly926=) c.2841G>A (p.Gly947=) n.272+5245G>A c.2253G>A (p.Gly751=) c.2385G>A (p.Gly795=) c.2205G>A (p.Gly735=) c.2142G>A (p.Gly714=) c.1986G>A (p.Gly662=) c.1917G>A (p.Gly639=) | ClinVar gnomAD v4 |
| 6 | g.33171765C>A | CA363636493 | COL11A2 | c.3098G>T (p.Gly1033Val) c.2777G>T (p.Gly926Val) c.2840G>T (p.Gly947Val) n.272+5244G>T c.2252G>T (p.Gly751Val) c.2384G>T (p.Gly795Val) c.2204G>T (p.Gly735Val) c.2141G>T (p.Gly714Val) c.1985G>T (p.Gly662Val) c.1916G>T (p.Gly639Val) | dbSNP |
| 6 | g.33171765C>G | CA363636494 | COL11A2 | c.3098G>C (p.Gly1033Ala) c.2777G>C (p.Gly926Ala) c.2840G>C (p.Gly947Ala) n.272+5244G>C c.2252G>C (p.Gly751Ala) c.2384G>C (p.Gly795Ala) c.2204G>C (p.Gly735Ala) c.2141G>C (p.Gly714Ala) c.1985G>C (p.Gly662Ala) c.1916G>C (p.Gly639Ala) | |
| 6 | g.33171765C>T | CA363636495 | COL11A2 | c.3098G>A (p.Gly1033Glu) c.2777G>A (p.Gly926Glu) c.2840G>A (p.Gly947Glu) n.272+5244G>A c.2252G>A (p.Gly751Glu) c.2384G>A (p.Gly795Glu) c.2204G>A (p.Gly735Glu) c.2141G>A (p.Gly714Glu) c.1985G>A (p.Gly662Glu) c.1916G>A (p.Gly639Glu) | ClinVar |
| 6 | g.33171766C>A | CA363636496 | COL11A2 | c.3097G>T (p.Gly1033Trp) c.2776G>T (p.Gly926Trp) c.2839G>T (p.Gly947Trp) n.272+5243G>T c.2251G>T (p.Gly751Trp) c.2383G>T (p.Gly795Trp) c.2203G>T (p.Gly735Trp) c.2140G>T (p.Gly714Trp) c.1984G>T (p.Gly662Trp) c.1915G>T (p.Gly639Trp) | |
| 6 | g.33171766C>G | CA363636497 | COL11A2 | c.3097G>C (p.Gly1033Arg) c.2776G>C (p.Gly926Arg) c.2839G>C (p.Gly947Arg) n.272+5243G>C c.2251G>C (p.Gly751Arg) c.2383G>C (p.Gly795Arg) c.2203G>C (p.Gly735Arg) c.2140G>C (p.Gly714Arg) c.1984G>C (p.Gly662Arg) c.1915G>C (p.Gly639Arg) | |
| 6 | g.33171766C>T | CA363636498 | COL11A2 | c.3097G>A (p.Gly1033Arg) c.2776G>A (p.Gly926Arg) c.2839G>A (p.Gly947Arg) n.272+5243G>A c.2251G>A (p.Gly751Arg) c.2383G>A (p.Gly795Arg) c.2203G>A (p.Gly735Arg) c.2140G>A (p.Gly714Arg) c.1984G>A (p.Gly662Arg) c.1915G>A (p.Gly639Arg) | |
| 6 | g.33171767T>A | CA449878241 | COL11A2 | c.3096A>T (p.Pro1032=) c.2775A>T (p.Pro925=) c.2838A>T (p.Pro946=) n.272+5242A>T c.2250A>T (p.Pro750=) c.2382A>T (p.Pro794=) c.2202A>T (p.Pro734=) c.2139A>T (p.Pro713=) c.1983A>T (p.Pro661=) c.1914A>T (p.Pro638=) | |
| 6 | g.33171767T>C | CA449878242 | COL11A2 | c.3096A>G (p.Pro1032=) c.2775A>G (p.Pro925=) c.2838A>G (p.Pro946=) n.272+5242A>G c.2250A>G (p.Pro750=) c.2382A>G (p.Pro794=) c.2202A>G (p.Pro734=) c.2139A>G (p.Pro713=) c.1983A>G (p.Pro661=) c.1914A>G (p.Pro638=) | |
| 6 | g.33171767T>G | CA449878245 | COL11A2 | c.3096A>C (p.Pro1032=) c.2775A>C (p.Pro925=) c.2838A>C (p.Pro946=) n.272+5242A>C c.2250A>C (p.Pro750=) c.2382A>C (p.Pro794=) c.2202A>C (p.Pro734=) c.2139A>C (p.Pro713=) c.1983A>C (p.Pro661=) c.1914A>C (p.Pro638=) | |
| 6 | g.33171768G>A | CA363636501 | COL11A2 | c.3095C>T (p.Pro1032Leu) c.2774C>T (p.Pro925Leu) c.2837C>T (p.Pro946Leu) n.272+5241C>T c.2249C>T (p.Pro750Leu) c.2381C>T (p.Pro794Leu) c.2201C>T (p.Pro734Leu) c.2138C>T (p.Pro713Leu) c.1982C>T (p.Pro661Leu) c.1913C>T (p.Pro638Leu) | |
| 6 | g.33171768G>C | CA363636500 | COL11A2 | c.3095C>G (p.Pro1032Arg) c.2774C>G (p.Pro925Arg) c.2837C>G (p.Pro946Arg) n.272+5241C>G c.2249C>G (p.Pro750Arg) c.2381C>G (p.Pro794Arg) c.2201C>G (p.Pro734Arg) c.2138C>G (p.Pro713Arg) c.1982C>G (p.Pro661Arg) c.1913C>G (p.Pro638Arg) | gnomAD v4 |
| 6 | g.33171768G>T | CA363636499 | COL11A2 | c.3095C>A (p.Pro1032Gln) c.2774C>A (p.Pro925Gln) c.2837C>A (p.Pro946Gln) n.272+5241C>A c.2249C>A (p.Pro750Gln) c.2381C>A (p.Pro794Gln) c.2201C>A (p.Pro734Gln) c.2138C>A (p.Pro713Gln) c.1982C>A (p.Pro661Gln) c.1913C>A (p.Pro638Gln) | |
| 6 | g.33171769G>A | CA363636502 | COL11A2 | c.3094C>T (p.Pro1032Ser) c.2773C>T (p.Pro925Ser) c.2836C>T (p.Pro946Ser) n.272+5240C>T c.2248C>T (p.Pro750Ser) c.2380C>T (p.Pro794Ser) c.2200C>T (p.Pro734Ser) c.2137C>T (p.Pro713Ser) c.1981C>T (p.Pro661Ser) c.1912C>T (p.Pro638Ser) | |
| 6 | g.33171769G>C | CA3750641 | COL11A2 | c.3094C>G (p.Pro1032Ala) c.2773C>G (p.Pro925Ala) c.2836C>G (p.Pro946Ala) n.272+5240C>G c.2248C>G (p.Pro750Ala) c.2380C>G (p.Pro794Ala) c.2200C>G (p.Pro734Ala) c.2137C>G (p.Pro713Ala) c.1981C>G (p.Pro661Ala) c.1912C>G (p.Pro638Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171769G= | CA1619897198 | COL11A2 | c.3094C= (p.Pro1032=) c.2773C= (p.Pro925=) c.2836C= (p.Pro946=) n.272+5240C= c.2248C= (p.Pro750=) c.2380C= (p.Pro794=) c.2200C= (p.Pro734=) c.2137C= (p.Pro713=) c.1981C= (p.Pro661=) c.1912C= (p.Pro638=) | |
| 6 | g.33171769G>T | CA363636503 | COL11A2 | c.3094C>A (p.Pro1032Thr) c.2773C>A (p.Pro925Thr) c.2836C>A (p.Pro946Thr) n.272+5240C>A c.2248C>A (p.Pro750Thr) c.2380C>A (p.Pro794Thr) c.2200C>A (p.Pro734Thr) c.2137C>A (p.Pro713Thr) c.1981C>A (p.Pro661Thr) c.1912C>A (p.Pro638Thr) | |
| 6 | g.33171770C>A | CA449878254 | COL11A2 | c.3093G>T (p.Pro1031=) c.2772G>T (p.Pro924=) c.2835G>T (p.Pro945=) n.272+5239G>T c.2247G>T (p.Pro749=) c.2379G>T (p.Pro793=) c.2199G>T (p.Pro733=) c.2136G>T (p.Pro712=) c.1980G>T (p.Pro660=) c.1911G>T (p.Pro637=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171770C= | CA1619897199 | COL11A2 | c.3093G= (p.Pro1031=) c.2772G= (p.Pro924=) c.2835G= (p.Pro945=) n.272+5239G= c.2247G= (p.Pro749=) c.2379G= (p.Pro793=) c.2199G= (p.Pro733=) c.2136G= (p.Pro712=) c.1980G= (p.Pro660=) c.1911G= (p.Pro637=) | |
| 6 | g.33171770C>G | CA137067524 | COL11A2 | c.3093G>C (p.Pro1031=) c.2772G>C (p.Pro924=) c.2835G>C (p.Pro945=) n.272+5239G>C c.2247G>C (p.Pro749=) c.2379G>C (p.Pro793=) c.2199G>C (p.Pro733=) c.2136G>C (p.Pro712=) c.1980G>C (p.Pro660=) c.1911G>C (p.Pro637=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171770C>T | CA3750642 | COL11A2 | c.3093G>A (p.Pro1031=) c.2772G>A (p.Pro924=) c.2835G>A (p.Pro945=) n.272+5239G>A c.2247G>A (p.Pro749=) c.2379G>A (p.Pro793=) c.2199G>A (p.Pro733=) c.2136G>A (p.Pro712=) c.1980G>A (p.Pro660=) c.1911G>A (p.Pro637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171771G>A | CA3750643 | COL11A2 | c.3092C>T (p.Pro1031Leu) c.2771C>T (p.Pro924Leu) c.2834C>T (p.Pro945Leu) n.272+5238C>T c.2246C>T (p.Pro749Leu) c.2378C>T (p.Pro793Leu) c.2198C>T (p.Pro733Leu) c.2135C>T (p.Pro712Leu) c.1979C>T (p.Pro660Leu) c.1910C>T (p.Pro637Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171771G>C | CA363636504 | COL11A2 | c.3092C>G (p.Pro1031Arg) c.2771C>G (p.Pro924Arg) c.2834C>G (p.Pro945Arg) n.272+5238C>G c.2246C>G (p.Pro749Arg) c.2378C>G (p.Pro793Arg) c.2198C>G (p.Pro733Arg) c.2135C>G (p.Pro712Arg) c.1979C>G (p.Pro660Arg) c.1910C>G (p.Pro637Arg) | ClinVar |
| 6 | g.33171771G= | CA1619897200 | COL11A2 | c.3092C= (p.Pro1031=) c.2771C= (p.Pro924=) c.2834C= (p.Pro945=) n.272+5238C= c.2246C= (p.Pro749=) c.2378C= (p.Pro793=) c.2198C= (p.Pro733=) c.2135C= (p.Pro712=) c.1979C= (p.Pro660=) c.1910C= (p.Pro637=) | |
| 6 | g.33171771G>T | CA363636505 | COL11A2 | c.3092C>A (p.Pro1031Gln) c.2771C>A (p.Pro924Gln) c.2834C>A (p.Pro945Gln) n.272+5238C>A c.2246C>A (p.Pro749Gln) c.2378C>A (p.Pro793Gln) c.2198C>A (p.Pro733Gln) c.2135C>A (p.Pro712Gln) c.1979C>A (p.Pro660Gln) c.1910C>A (p.Pro637Gln) | |
| 6 | g.33171771_33171772delinsAA | CA645548072 | COL11A2 | c.3091_3092delinsTT (p.Pro1031Leu) c.2770_2771delinsTT (p.Pro924Leu) c.2833_2834delinsTT (p.Pro945Leu) n.272+5237_272+5238delinsTT c.2245_2246delinsTT (p.Pro749Leu) c.2377_2378delinsTT (p.Pro793Leu) c.2197_2198delinsTT (p.Pro733Leu) c.2134_2135delinsTT (p.Pro712Leu) c.1978_1979delinsTT (p.Pro660Leu) c.1909_1910delinsTT (p.Pro637Leu) | COSMIC |
| 6 | g.33171772G>A | CA363636506 | COL11A2 | c.3091C>T (p.Pro1031Ser) c.2770C>T (p.Pro924Ser) c.2833C>T (p.Pro945Ser) n.272+5237C>T c.2245C>T (p.Pro749Ser) c.2377C>T (p.Pro793Ser) c.2197C>T (p.Pro733Ser) c.2134C>T (p.Pro712Ser) c.1978C>T (p.Pro660Ser) c.1909C>T (p.Pro637Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171772G>C | CA363636507 | COL11A2 | c.3091C>G (p.Pro1031Ala) c.2770C>G (p.Pro924Ala) c.2833C>G (p.Pro945Ala) n.272+5237C>G c.2245C>G (p.Pro749Ala) c.2377C>G (p.Pro793Ala) c.2197C>G (p.Pro733Ala) c.2134C>G (p.Pro712Ala) c.1978C>G (p.Pro660Ala) c.1909C>G (p.Pro637Ala) | |
| 6 | g.33171772G= | CA1619897201 | COL11A2 | c.3091C= (p.Pro1031=) c.2770C= (p.Pro924=) c.2833C= (p.Pro945=) n.272+5237C= c.2245C= (p.Pro749=) c.2377C= (p.Pro793=) c.2197C= (p.Pro733=) c.2134C= (p.Pro712=) c.1978C= (p.Pro660=) c.1909C= (p.Pro637=) | |
| 6 | g.33171772G>T | CA363636508 | COL11A2 | c.3091C>A (p.Pro1031Thr) c.2770C>A (p.Pro924Thr) c.2833C>A (p.Pro945Thr) n.272+5237C>A c.2245C>A (p.Pro749Thr) c.2377C>A (p.Pro793Thr) c.2197C>A (p.Pro733Thr) c.2134C>A (p.Pro712Thr) c.1978C>A (p.Pro660Thr) c.1909C>A (p.Pro637Thr) | |
| 6 | g.33171773A= | CA1619897202 | COL11A2 | c.3090T= (p.Gly1030=) c.2769T= (p.Gly923=) c.2832T= (p.Gly944=) n.272+5236T= c.2244T= (p.Gly748=) c.2376T= (p.Gly792=) c.2196T= (p.Gly732=) c.2133T= (p.Gly711=) c.1977T= (p.Gly659=) c.1908T= (p.Gly636=) | |
| 6 | g.33171773A>C | CA449878265 | COL11A2 | c.3090T>G (p.Gly1030=) c.2769T>G (p.Gly923=) c.2832T>G (p.Gly944=) n.272+5236T>G c.2244T>G (p.Gly748=) c.2376T>G (p.Gly792=) c.2196T>G (p.Gly732=) c.2133T>G (p.Gly711=) c.1977T>G (p.Gly659=) c.1908T>G (p.Gly636=) | gnomAD v4 |
| 6 | g.33171773A>G | CA449878268 | COL11A2 | c.3090T>C (p.Gly1030=) c.2769T>C (p.Gly923=) c.2832T>C (p.Gly944=) n.272+5236T>C c.2244T>C (p.Gly748=) c.2376T>C (p.Gly792=) c.2196T>C (p.Gly732=) c.2133T>C (p.Gly711=) c.1977T>C (p.Gly659=) c.1908T>C (p.Gly636=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171773A>T | CA449878269 | COL11A2 | c.3090T>A (p.Gly1030=) c.2769T>A (p.Gly923=) c.2832T>A (p.Gly944=) n.272+5236T>A c.2244T>A (p.Gly748=) c.2376T>A (p.Gly792=) c.2196T>A (p.Gly732=) c.2133T>A (p.Gly711=) c.1977T>A (p.Gly659=) c.1908T>A (p.Gly636=) | |
| 6 | g.33171774C>A | CA363636511 | COL11A2 | c.3089G>T (p.Gly1030Val) c.2768G>T (p.Gly923Val) c.2831G>T (p.Gly944Val) n.272+5235G>T c.2243G>T (p.Gly748Val) c.2375G>T (p.Gly792Val) c.2195G>T (p.Gly732Val) c.2132G>T (p.Gly711Val) c.1976G>T (p.Gly659Val) c.1907G>T (p.Gly636Val) | gnomAD v4 |
| 6 | g.33171774C>G | CA363636510 | COL11A2 | c.3089G>C (p.Gly1030Ala) c.2768G>C (p.Gly923Ala) c.2831G>C (p.Gly944Ala) n.272+5235G>C c.2243G>C (p.Gly748Ala) c.2375G>C (p.Gly792Ala) c.2195G>C (p.Gly732Ala) c.2132G>C (p.Gly711Ala) c.1976G>C (p.Gly659Ala) c.1907G>C (p.Gly636Ala) | |
| 6 | g.33171774C>T | CA363636509 | COL11A2 | c.3089G>A (p.Gly1030Asp) c.2768G>A (p.Gly923Asp) c.2831G>A (p.Gly944Asp) n.272+5235G>A c.2243G>A (p.Gly748Asp) c.2375G>A (p.Gly792Asp) c.2195G>A (p.Gly732Asp) c.2132G>A (p.Gly711Asp) c.1976G>A (p.Gly659Asp) c.1907G>A (p.Gly636Asp) | |
| 6 | g.33171775C>A | CA363636512 | COL11A2 | c.3088G>T (p.Gly1030Cys) c.2767G>T (p.Gly923Cys) c.2830G>T (p.Gly944Cys) n.272+5234G>T c.2242G>T (p.Gly748Cys) c.2374G>T (p.Gly792Cys) c.2194G>T (p.Gly732Cys) c.2131G>T (p.Gly711Cys) c.1975G>T (p.Gly659Cys) c.1906G>T (p.Gly636Cys) | |
| 6 | g.33171775C>G | CA363636513 | COL11A2 | c.3088G>C (p.Gly1030Arg) c.2767G>C (p.Gly923Arg) c.2830G>C (p.Gly944Arg) n.272+5234G>C c.2242G>C (p.Gly748Arg) c.2374G>C (p.Gly792Arg) c.2194G>C (p.Gly732Arg) c.2131G>C (p.Gly711Arg) c.1975G>C (p.Gly659Arg) c.1906G>C (p.Gly636Arg) | |
| 6 | g.33171775C>T | CA363636514 | COL11A2 | c.3088G>A (p.Gly1030Ser) c.2767G>A (p.Gly923Ser) c.2830G>A (p.Gly944Ser) n.272+5234G>A c.2242G>A (p.Gly748Ser) c.2374G>A (p.Gly792Ser) c.2194G>A (p.Gly732Ser) c.2131G>A (p.Gly711Ser) c.1975G>A (p.Gly659Ser) c.1906G>A (p.Gly636Ser) | |
| 6 | g.33171776A>C | CA363636515 | COL11A2 | c.3087T>G (p.Ile1029Met) c.2766T>G (p.Ile922Met) c.2829T>G (p.Ile943Met) n.272+5233T>G c.2241T>G (p.Ile747Met) c.2373T>G (p.Ile791Met) c.2193T>G (p.Ile731Met) c.2130T>G (p.Ile710Met) c.1974T>G (p.Ile658Met) c.1905T>G (p.Ile635Met) | |
| 6 | g.33171776A>G | CA449878280 | COL11A2 | c.3087T>C (p.Ile1029=) c.2766T>C (p.Ile922=) c.2829T>C (p.Ile943=) n.272+5233T>C c.2241T>C (p.Ile747=) c.2373T>C (p.Ile791=) c.2193T>C (p.Ile731=) c.2130T>C (p.Ile710=) c.1974T>C (p.Ile658=) c.1905T>C (p.Ile635=) | |
| 6 | g.33171776A>T | CA449878279 | COL11A2 | c.3087T>A (p.Ile1029=) c.2766T>A (p.Ile922=) c.2829T>A (p.Ile943=) n.272+5233T>A c.2241T>A (p.Ile747=) c.2373T>A (p.Ile791=) c.2193T>A (p.Ile731=) c.2130T>A (p.Ile710=) c.1974T>A (p.Ile658=) c.1905T>A (p.Ile635=) | |
| 6 | g.33171777A= | CA1619897203 | COL11A2 | c.3086T= (p.Ile1029=) c.2765T= (p.Ile922=) c.2828T= (p.Ile943=) n.272+5232T= c.2240T= (p.Ile747=) c.2372T= (p.Ile791=) c.2192T= (p.Ile731=) c.2129T= (p.Ile710=) c.1973T= (p.Ile658=) c.1904T= (p.Ile635=) | |
| 6 | g.33171777A>C | CA363636516 | COL11A2 | c.3086T>G (p.Ile1029Ser) c.2765T>G (p.Ile922Ser) c.2828T>G (p.Ile943Ser) n.272+5232T>G c.2240T>G (p.Ile747Ser) c.2372T>G (p.Ile791Ser) c.2192T>G (p.Ile731Ser) c.2129T>G (p.Ile710Ser) c.1973T>G (p.Ile658Ser) c.1904T>G (p.Ile635Ser) | |
| 6 | g.33171777A>G | CA137067528 | COL11A2 | c.3086T>C (p.Ile1029Thr) c.2765T>C (p.Ile922Thr) c.2828T>C (p.Ile943Thr) n.272+5232T>C c.2240T>C (p.Ile747Thr) c.2372T>C (p.Ile791Thr) c.2192T>C (p.Ile731Thr) c.2129T>C (p.Ile710Thr) c.1973T>C (p.Ile658Thr) c.1904T>C (p.Ile635Thr) | dbSNP gnomAD v4 |
| 6 | g.33171777A>T | CA363636517 | COL11A2 | c.3086T>A (p.Ile1029Asn) c.2765T>A (p.Ile922Asn) c.2828T>A (p.Ile943Asn) n.272+5232T>A c.2240T>A (p.Ile747Asn) c.2372T>A (p.Ile791Asn) c.2192T>A (p.Ile731Asn) c.2129T>A (p.Ile710Asn) c.1973T>A (p.Ile658Asn) c.1904T>A (p.Ile635Asn) | |
| 6 | g.33171778T>A | CA363636518 | COL11A2 | c.3085A>T (p.Ile1029Phe) c.2764A>T (p.Ile922Phe) c.2827A>T (p.Ile943Phe) n.272+5231A>T c.2239A>T (p.Ile747Phe) c.2371A>T (p.Ile791Phe) c.2191A>T (p.Ile731Phe) c.2128A>T (p.Ile710Phe) c.1972A>T (p.Ile658Phe) c.1903A>T (p.Ile635Phe) | |
| 6 | g.33171778T>C | CA363636519 | COL11A2 | c.3085A>G (p.Ile1029Val) c.2764A>G (p.Ile922Val) c.2827A>G (p.Ile943Val) n.272+5231A>G c.2239A>G (p.Ile747Val) c.2371A>G (p.Ile791Val) c.2191A>G (p.Ile731Val) c.2128A>G (p.Ile710Val) c.1972A>G (p.Ile658Val) c.1903A>G (p.Ile635Val) | |
| 6 | g.33171778T>G | CA363636520 | COL11A2 | c.3085A>C (p.Ile1029Leu) c.2764A>C (p.Ile922Leu) c.2827A>C (p.Ile943Leu) n.272+5231A>C c.2239A>C (p.Ile747Leu) c.2371A>C (p.Ile791Leu) c.2191A>C (p.Ile731Leu) c.2128A>C (p.Ile710Leu) c.1972A>C (p.Ile658Leu) c.1903A>C (p.Ile635Leu) | |
| 6 | g.33171779G>A | CA449878287 | COL11A2 | c.3084C>T (p.Pro1028=) c.2763C>T (p.Pro921=) c.2826C>T (p.Pro942=) n.272+5230C>T c.2238C>T (p.Pro746=) c.2370C>T (p.Pro790=) c.2190C>T (p.Pro730=) c.2127C>T (p.Pro709=) c.1971C>T (p.Pro657=) c.1902C>T (p.Pro634=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171779G>C | CA449878289 | COL11A2 | c.3084C>G (p.Pro1028=) c.2763C>G (p.Pro921=) c.2826C>G (p.Pro942=) n.272+5230C>G c.2238C>G (p.Pro746=) c.2370C>G (p.Pro790=) c.2190C>G (p.Pro730=) c.2127C>G (p.Pro709=) c.1971C>G (p.Pro657=) c.1902C>G (p.Pro634=) | |
| 6 | g.33171779G= | CA1619897204 | COL11A2 | c.3084C= (p.Pro1028=) c.2763C= (p.Pro921=) c.2826C= (p.Pro942=) n.272+5230C= c.2238C= (p.Pro746=) c.2370C= (p.Pro790=) c.2190C= (p.Pro730=) c.2127C= (p.Pro709=) c.1971C= (p.Pro657=) c.1902C= (p.Pro634=) | |
| 6 | g.33171779G>T | CA449878290 | COL11A2 | c.3084C>A (p.Pro1028=) c.2763C>A (p.Pro921=) c.2826C>A (p.Pro942=) n.272+5230C>A c.2238C>A (p.Pro746=) c.2370C>A (p.Pro790=) c.2190C>A (p.Pro730=) c.2127C>A (p.Pro709=) c.1971C>A (p.Pro657=) c.1902C>A (p.Pro634=) | dbSNP gnomAD v2 COSMIC |
| 6 | g.33171780G>A | CA137067530 | COL11A2 | c.3083C>T (p.Pro1028Leu) c.2762C>T (p.Pro921Leu) c.2825C>T (p.Pro942Leu) n.272+5229C>T c.2237C>T (p.Pro746Leu) c.2369C>T (p.Pro790Leu) c.2189C>T (p.Pro730Leu) c.2126C>T (p.Pro709Leu) c.1970C>T (p.Pro657Leu) c.1901C>T (p.Pro634Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171780G>C | CA363636521 | COL11A2 | c.3083C>G (p.Pro1028Arg) c.2762C>G (p.Pro921Arg) c.2825C>G (p.Pro942Arg) n.272+5229C>G c.2237C>G (p.Pro746Arg) c.2369C>G (p.Pro790Arg) c.2189C>G (p.Pro730Arg) c.2126C>G (p.Pro709Arg) c.1970C>G (p.Pro657Arg) c.1901C>G (p.Pro634Arg) | dbSNP gnomAD v4 |
| 6 | g.33171780G= | CA1619897205 | COL11A2 | c.3083C= (p.Pro1028=) c.2762C= (p.Pro921=) c.2825C= (p.Pro942=) n.272+5229C= c.2237C= (p.Pro746=) c.2369C= (p.Pro790=) c.2189C= (p.Pro730=) c.2126C= (p.Pro709=) c.1970C= (p.Pro657=) c.1901C= (p.Pro634=) | |
| 6 | g.33171780G>T | CA363636522 | COL11A2 | c.3083C>A (p.Pro1028His) c.2762C>A (p.Pro921His) c.2825C>A (p.Pro942His) n.272+5229C>A c.2237C>A (p.Pro746His) c.2369C>A (p.Pro790His) c.2189C>A (p.Pro730His) c.2126C>A (p.Pro709His) c.1970C>A (p.Pro657His) c.1901C>A (p.Pro634His) | ClinVar dbSNP |
| 6 | g.33171781G>A | CA3750644 | COL11A2 | c.3082C>T (p.Pro1028Ser) c.2761C>T (p.Pro921Ser) c.2824C>T (p.Pro942Ser) n.272+5228C>T c.2236C>T (p.Pro746Ser) c.2368C>T (p.Pro790Ser) c.2188C>T (p.Pro730Ser) c.2125C>T (p.Pro709Ser) c.1969C>T (p.Pro657Ser) c.1900C>T (p.Pro634Ser) | dbSNP ExAC gnomAD v2 |
| 6 | g.33171781G>C | CA363636524 | COL11A2 | c.3082C>G (p.Pro1028Ala) c.2761C>G (p.Pro921Ala) c.2824C>G (p.Pro942Ala) n.272+5228C>G c.2236C>G (p.Pro746Ala) c.2368C>G (p.Pro790Ala) c.2188C>G (p.Pro730Ala) c.2125C>G (p.Pro709Ala) c.1969C>G (p.Pro657Ala) c.1900C>G (p.Pro634Ala) | |
| 6 | g.33171781G= | CA1619897206 | COL11A2 | c.3082C= (p.Pro1028=) c.2761C= (p.Pro921=) c.2824C= (p.Pro942=) n.272+5228C= c.2236C= (p.Pro746=) c.2368C= (p.Pro790=) c.2188C= (p.Pro730=) c.2125C= (p.Pro709=) c.1969C= (p.Pro657=) c.1900C= (p.Pro634=) | |
| 6 | g.33171781G>T | CA363636523 | COL11A2 | c.3082C>A (p.Pro1028Thr) c.2761C>A (p.Pro921Thr) c.2824C>A (p.Pro942Thr) n.272+5228C>A c.2236C>A (p.Pro746Thr) c.2368C>A (p.Pro790Thr) c.2188C>A (p.Pro730Thr) c.2125C>A (p.Pro709Thr) c.1969C>A (p.Pro657Thr) c.1900C>A (p.Pro634Thr) | |
| 6 | g.33171781_33171782insC | CA2678231516 | COL11A2 | c.3081_3082insG (p.Pro1028AlafsTer25) c.2760_2761insG (p.Pro921AlafsTer25) c.2823_2824insG (p.Pro942AlafsTer25) n.272+5227_272+5228insG c.2235_2236insG (p.Pro746AlafsTer25) c.2367_2368insG (p.Pro790AlafsTer25) c.2187_2188insG (p.Pro730AlafsTer25) c.2124_2125insG (p.Pro709AlafsTer25) c.1968_1969insG (p.Pro657AlafsTer25) c.1899_1900insG (p.Pro634AlafsTer25) | gnomAD v4 |
| 6 | g.33171782T>A | CA449878299 | COL11A2 | c.3081A>T (p.Gly1027=) c.2760A>T (p.Gly920=) c.2823A>T (p.Gly941=) n.272+5227A>T c.2235A>T (p.Gly745=) c.2367A>T (p.Gly789=) c.2187A>T (p.Gly729=) c.2124A>T (p.Gly708=) c.1968A>T (p.Gly656=) c.1899A>T (p.Gly633=) | |
| 6 | g.33171782T>C | CA449878300 | COL11A2 | c.3081A>G (p.Gly1027=) c.2760A>G (p.Gly920=) c.2823A>G (p.Gly941=) n.272+5227A>G c.2235A>G (p.Gly745=) c.2367A>G (p.Gly789=) c.2187A>G (p.Gly729=) c.2124A>G (p.Gly708=) c.1968A>G (p.Gly656=) c.1899A>G (p.Gly633=) | |
| 6 | g.33171782T>G | CA449878302 | COL11A2 | c.3081A>C (p.Gly1027=) c.2760A>C (p.Gly920=) c.2823A>C (p.Gly941=) n.272+5227A>C c.2235A>C (p.Gly745=) c.2367A>C (p.Gly789=) c.2187A>C (p.Gly729=) c.2124A>C (p.Gly708=) c.1968A>C (p.Gly656=) c.1899A>C (p.Gly633=) | gnomAD v4 |
| 6 | g.33171782_33171783delinsTC | CA1619897207 | COL11A2 | c.3080_3081delinsGA (p.Gly1027=) c.2759_2760delinsGA (p.Gly920=) c.2822_2823delinsGA (p.Gly941=) n.272+5226_272+5227delinsGA c.2234_2235delinsGA (p.Gly745=) c.2366_2367delinsGA (p.Gly789=) c.2186_2187delinsGA (p.Gly729=) c.2123_2124delinsGA (p.Gly708=) c.1967_1968delinsGA (p.Gly656=) c.1898_1899delinsGA (p.Gly633=) | |
| 6 | g.33171783C>A | CA363636525 | COL11A2 | c.3080G>T (p.Gly1027Val) c.2759G>T (p.Gly920Val) c.2822G>T (p.Gly941Val) n.272+5226G>T c.2234G>T (p.Gly745Val) c.2366G>T (p.Gly789Val) c.2186G>T (p.Gly729Val) c.2123G>T (p.Gly708Val) c.1967G>T (p.Gly656Val) c.1898G>T (p.Gly633Val) | |
| 6 | g.33171783C>G | CA363636526 | COL11A2 | c.3080G>C (p.Gly1027Ala) c.2759G>C (p.Gly920Ala) c.2822G>C (p.Gly941Ala) n.272+5226G>C c.2234G>C (p.Gly745Ala) c.2366G>C (p.Gly789Ala) c.2186G>C (p.Gly729Ala) c.2123G>C (p.Gly708Ala) c.1967G>C (p.Gly656Ala) c.1898G>C (p.Gly633Ala) | gnomAD v4 |
| 6 | g.33171783C>T | CA363636527 | COL11A2 | c.3080G>A (p.Gly1027Glu) c.2759G>A (p.Gly920Glu) c.2822G>A (p.Gly941Glu) n.272+5226G>A c.2234G>A (p.Gly745Glu) c.2366G>A (p.Gly789Glu) c.2186G>A (p.Gly729Glu) c.2123G>A (p.Gly708Glu) c.1967G>A (p.Gly656Glu) c.1898G>A (p.Gly633Glu) | ClinVar dbSNP |
| 6 | g.33171787del | CA1619897208 | COL11A2 | c.3080del (p.Gly1027AspfsTer?) c.2759del (p.Gly920AspfsTer?) c.2822del (p.Gly941AspfsTer?) n.272+5226del c.2234del (p.Gly745AspfsTer?) c.2366del (p.Gly789AspfsTer?) c.2186del (p.Gly729AspfsTer?) c.2123del (p.Gly708AspfsTer?) c.1967del (p.Gly656AspfsTer?) c.1898del (p.Gly633AspfsTer?) | dbSNP |
| 6 | g.33171784C>A | CA363636528 | COL11A2 | c.3079G>T (p.Gly1027Ter) c.2758G>T (p.Gly920Ter) c.2821G>T (p.Gly941Ter) n.272+5225G>T c.2233G>T (p.Gly745Ter) c.2365G>T (p.Gly789Ter) c.2185G>T (p.Gly729Ter) c.2122G>T (p.Gly708Ter) c.1966G>T (p.Gly656Ter) c.1897G>T (p.Gly633Ter) | |
| 6 | g.33171784C>G | CA363636529 | COL11A2 | c.3079G>C (p.Gly1027Arg) c.2758G>C (p.Gly920Arg) c.2821G>C (p.Gly941Arg) n.272+5225G>C c.2233G>C (p.Gly745Arg) c.2365G>C (p.Gly789Arg) c.2185G>C (p.Gly729Arg) c.2122G>C (p.Gly708Arg) c.1966G>C (p.Gly656Arg) c.1897G>C (p.Gly633Arg) | |
| 6 | g.33171784C>T | CA363636530 | COL11A2 | c.3079G>A (p.Gly1027Arg) c.2758G>A (p.Gly920Arg) c.2821G>A (p.Gly941Arg) n.272+5225G>A c.2233G>A (p.Gly745Arg) c.2365G>A (p.Gly789Arg) c.2185G>A (p.Gly729Arg) c.2122G>A (p.Gly708Arg) c.1966G>A (p.Gly656Arg) c.1897G>A (p.Gly633Arg) | |
| 6 | g.33171785C>A | CA449878316 | COL11A2 | c.3078G>T (p.Gly1026=) c.2757G>T (p.Gly919=) c.2820G>T (p.Gly940=) n.272+5224G>T c.2232G>T (p.Gly744=) c.2364G>T (p.Gly788=) c.2184G>T (p.Gly728=) c.2121G>T (p.Gly707=) c.1965G>T (p.Gly655=) c.1896G>T (p.Gly632=) | |
| 6 | g.33171785C= | CA1619897209 | COL11A2 | c.3078G= (p.Gly1026=) c.2757G= (p.Gly919=) c.2820G= (p.Gly940=) n.272+5224G= c.2232G= (p.Gly744=) c.2364G= (p.Gly788=) c.2184G= (p.Gly728=) c.2121G= (p.Gly707=) c.1965G= (p.Gly655=) c.1896G= (p.Gly632=) | |
| 6 | g.33171785C>G | CA449878312 | COL11A2 | c.3078G>C (p.Gly1026=) c.2757G>C (p.Gly919=) c.2820G>C (p.Gly940=) n.272+5224G>C c.2232G>C (p.Gly744=) c.2364G>C (p.Gly788=) c.2184G>C (p.Gly728=) c.2121G>C (p.Gly707=) c.1965G>C (p.Gly655=) c.1896G>C (p.Gly632=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171785C>T | CA449878314 | COL11A2 | c.3078G>A (p.Gly1026=) c.2757G>A (p.Gly919=) c.2820G>A (p.Gly940=) n.272+5224G>A c.2232G>A (p.Gly744=) c.2364G>A (p.Gly788=) c.2184G>A (p.Gly728=) c.2121G>A (p.Gly707=) c.1965G>A (p.Gly655=) c.1896G>A (p.Gly632=) | |
| 6 | g.33171786C>A | CA363636533 | COL11A2 | c.3077G>T (p.Gly1026Val) c.2756G>T (p.Gly919Val) c.2819G>T (p.Gly940Val) n.272+5223G>T c.2231G>T (p.Gly744Val) c.2363G>T (p.Gly788Val) c.2183G>T (p.Gly728Val) c.2120G>T (p.Gly707Val) c.1964G>T (p.Gly655Val) c.1895G>T (p.Gly632Val) | |
| 6 | g.33171786C>G | CA363636531 | COL11A2 | c.3077G>C (p.Gly1026Ala) c.2756G>C (p.Gly919Ala) c.2819G>C (p.Gly940Ala) n.272+5223G>C c.2231G>C (p.Gly744Ala) c.2363G>C (p.Gly788Ala) c.2183G>C (p.Gly728Ala) c.2120G>C (p.Gly707Ala) c.1964G>C (p.Gly655Ala) c.1895G>C (p.Gly632Ala) | |
| 6 | g.33171786C>T | CA363636532 | COL11A2 | c.3077G>A (p.Gly1026Glu) c.2756G>A (p.Gly919Glu) c.2819G>A (p.Gly940Glu) n.272+5223G>A c.2231G>A (p.Gly744Glu) c.2363G>A (p.Gly788Glu) c.2183G>A (p.Gly728Glu) c.2120G>A (p.Gly707Glu) c.1964G>A (p.Gly655Glu) c.1895G>A (p.Gly632Glu) | |
| 6 | g.33171787C>A | CA363636534 | COL11A2 | c.3076G>T (p.Gly1026Trp) c.2755G>T (p.Gly919Trp) c.2818G>T (p.Gly940Trp) n.272+5222G>T c.2230G>T (p.Gly744Trp) c.2362G>T (p.Gly788Trp) c.2182G>T (p.Gly728Trp) c.2119G>T (p.Gly707Trp) c.1963G>T (p.Gly655Trp) c.1894G>T (p.Gly632Trp) | |
| 6 | g.33171787C= | CA1619897210 | COL11A2 | c.3076G= (p.Gly1026=) c.2755G= (p.Gly919=) c.2818G= (p.Gly940=) n.272+5222G= c.2230G= (p.Gly744=) c.2362G= (p.Gly788=) c.2182G= (p.Gly728=) c.2119G= (p.Gly707=) c.1963G= (p.Gly655=) c.1894G= (p.Gly632=) | |
| 6 | g.33171787C>G | CA363636535 | COL11A2 | c.3076G>C (p.Gly1026Arg) c.2755G>C (p.Gly919Arg) c.2818G>C (p.Gly940Arg) n.272+5222G>C c.2230G>C (p.Gly744Arg) c.2362G>C (p.Gly788Arg) c.2182G>C (p.Gly728Arg) c.2119G>C (p.Gly707Arg) c.1963G>C (p.Gly655Arg) c.1894G>C (p.Gly632Arg) | |
| 6 | g.33171787C>T | CA363636536 | COL11A2 | c.3076G>A (p.Gly1026Arg) c.2755G>A (p.Gly919Arg) c.2818G>A (p.Gly940Arg) n.272+5222G>A c.2230G>A (p.Gly744Arg) c.2362G>A (p.Gly788Arg) c.2182G>A (p.Gly728Arg) c.2119G>A (p.Gly707Arg) c.1963G>A (p.Gly655Arg) c.1894G>A (p.Gly632Arg) | dbSNP |
| 6 | g.33171787_33171788delinsCT | CA1619897211 | COL11A2 | c.3075_3076delinsAG (p.Ser1025=) c.2754_2755delinsAG (p.Ser918=) c.2817_2818delinsAG (p.Ser939=) n.272+5221_272+5222delinsAG c.2229_2230delinsAG (p.Ser743=) c.2361_2362delinsAG (p.Ser787=) c.2181_2182delinsAG (p.Ser727=) c.2118_2119delinsAG (p.Ser706=) c.1962_1963delinsAG (p.Ser654=) c.1893_1894delinsAG (p.Ser631=) | |
| 6 | g.33171788del | CA916082812 | COL11A2 | c.3075del (p.Gly1027AspfsTer?) c.2754del (p.Gly920AspfsTer?) c.2817del (p.Gly941AspfsTer?) n.272+5221del c.2229del (p.Gly745AspfsTer?) c.2361del (p.Gly789AspfsTer?) c.2181del (p.Gly729AspfsTer?) c.2118del (p.Gly708AspfsTer?) c.1962del (p.Gly656AspfsTer?) c.1893del (p.Gly633AspfsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33171788T>A | CA449878325 | COL11A2 | c.3075A>T (p.Ser1025=) c.2754A>T (p.Ser918=) c.2817A>T (p.Ser939=) n.272+5221A>T c.2229A>T (p.Ser743=) c.2361A>T (p.Ser787=) c.2181A>T (p.Ser727=) c.2118A>T (p.Ser706=) c.1962A>T (p.Ser654=) c.1893A>T (p.Ser631=) | |
| 6 | g.33171788T>C | CA449878327 | COL11A2 | c.3075A>G (p.Ser1025=) c.2754A>G (p.Ser918=) c.2817A>G (p.Ser939=) n.272+5221A>G c.2229A>G (p.Ser743=) c.2361A>G (p.Ser787=) c.2181A>G (p.Ser727=) c.2118A>G (p.Ser706=) c.1962A>G (p.Ser654=) c.1893A>G (p.Ser631=) | |
| 6 | g.33171788T>G | CA449878329 | COL11A2 | c.3075A>C (p.Ser1025=) c.2754A>C (p.Ser918=) c.2817A>C (p.Ser939=) n.272+5221A>C c.2229A>C (p.Ser743=) c.2361A>C (p.Ser787=) c.2181A>C (p.Ser727=) c.2118A>C (p.Ser706=) c.1962A>C (p.Ser654=) c.1893A>C (p.Ser631=) | |
| 6 | g.33171789G>A | CA363636537 | COL11A2 | c.3074C>T (p.Ser1025Leu) c.2753C>T (p.Ser918Leu) c.2816C>T (p.Ser939Leu) n.272+5220C>T c.2228C>T (p.Ser743Leu) c.2360C>T (p.Ser787Leu) c.2180C>T (p.Ser727Leu) c.2117C>T (p.Ser706Leu) c.1961C>T (p.Ser654Leu) c.1892C>T (p.Ser631Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171789G>C | CA363636538 | COL11A2 | c.3074C>G (p.Ser1025Ter) c.2753C>G (p.Ser918Ter) c.2816C>G (p.Ser939Ter) n.272+5220C>G c.2228C>G (p.Ser743Ter) c.2360C>G (p.Ser787Ter) c.2180C>G (p.Ser727Ter) c.2117C>G (p.Ser706Ter) c.1961C>G (p.Ser654Ter) c.1892C>G (p.Ser631Ter) | |
| 6 | g.33171789G= | CA1619897212 | COL11A2 | c.3074C= (p.Ser1025=) c.2753C= (p.Ser918=) c.2816C= (p.Ser939=) n.272+5220C= c.2228C= (p.Ser743=) c.2360C= (p.Ser787=) c.2180C= (p.Ser727=) c.2117C= (p.Ser706=) c.1961C= (p.Ser654=) c.1892C= (p.Ser631=) | |
| 6 | g.33171789G>T | CA363636539 | COL11A2 | c.3074C>A (p.Ser1025Ter) c.2753C>A (p.Ser918Ter) c.2816C>A (p.Ser939Ter) n.272+5220C>A c.2228C>A (p.Ser743Ter) c.2360C>A (p.Ser787Ter) c.2180C>A (p.Ser727Ter) c.2117C>A (p.Ser706Ter) c.1961C>A (p.Ser654Ter) c.1892C>A (p.Ser631Ter) | |
| 6 | g.33171790A>C | CA363636540 | COL11A2 | c.3073T>G (p.Ser1025Ala) c.2752T>G (p.Ser918Ala) c.2815T>G (p.Ser939Ala) n.272+5219T>G c.2227T>G (p.Ser743Ala) c.2359T>G (p.Ser787Ala) c.2179T>G (p.Ser727Ala) c.2116T>G (p.Ser706Ala) c.1960T>G (p.Ser654Ala) c.1891T>G (p.Ser631Ala) | |
| 6 | g.33171790A>G | CA363636542 | COL11A2 | c.3073T>C (p.Ser1025Pro) c.2752T>C (p.Ser918Pro) c.2815T>C (p.Ser939Pro) n.272+5219T>C c.2227T>C (p.Ser743Pro) c.2359T>C (p.Ser787Pro) c.2179T>C (p.Ser727Pro) c.2116T>C (p.Ser706Pro) c.1960T>C (p.Ser654Pro) c.1891T>C (p.Ser631Pro) | |
| 6 | g.33171790A>T | CA363636541 | COL11A2 | c.3073T>A (p.Ser1025Thr) c.2752T>A (p.Ser918Thr) c.2815T>A (p.Ser939Thr) n.272+5219T>A c.2227T>A (p.Ser743Thr) c.2359T>A (p.Ser787Thr) c.2179T>A (p.Ser727Thr) c.2116T>A (p.Ser706Thr) c.1960T>A (p.Ser654Thr) c.1891T>A (p.Ser631Thr) | gnomAD v4 |
| 6 | g.33171791T>A | CA449878338 | COL11A2 | c.3072A>T (p.Gly1024=) c.2751A>T (p.Gly917=) c.2814A>T (p.Gly938=) n.272+5218A>T c.2226A>T (p.Gly742=) c.2358A>T (p.Gly786=) c.2178A>T (p.Gly726=) c.2115A>T (p.Gly705=) c.1959A>T (p.Gly653=) c.1890A>T (p.Gly630=) | |
| 6 | g.33171791T>C | CA449878339 | COL11A2 | c.3072A>G (p.Gly1024=) c.2751A>G (p.Gly917=) c.2814A>G (p.Gly938=) n.272+5218A>G c.2226A>G (p.Gly742=) c.2358A>G (p.Gly786=) c.2178A>G (p.Gly726=) c.2115A>G (p.Gly705=) c.1959A>G (p.Gly653=) c.1890A>G (p.Gly630=) | |
| 6 | g.33171791T>G | CA449878341 | COL11A2 | c.3072A>C (p.Gly1024=) c.2751A>C (p.Gly917=) c.2814A>C (p.Gly938=) n.272+5218A>C c.2226A>C (p.Gly742=) c.2358A>C (p.Gly786=) c.2178A>C (p.Gly726=) c.2115A>C (p.Gly705=) c.1959A>C (p.Gly653=) c.1890A>C (p.Gly630=) | |
| 6 | g.33171792C>A | CA363636543 | COL11A2 | c.3071G>T (p.Gly1024Val) c.2750G>T (p.Gly917Val) c.2813G>T (p.Gly938Val) n.272+5217G>T c.2225G>T (p.Gly742Val) c.2357G>T (p.Gly786Val) c.2177G>T (p.Gly726Val) c.2114G>T (p.Gly705Val) c.1958G>T (p.Gly653Val) c.1889G>T (p.Gly630Val) | |
| 6 | g.33171792C>G | CA363636544 | COL11A2 | c.3071G>C (p.Gly1024Ala) c.2750G>C (p.Gly917Ala) c.2813G>C (p.Gly938Ala) n.272+5217G>C c.2225G>C (p.Gly742Ala) c.2357G>C (p.Gly786Ala) c.2177G>C (p.Gly726Ala) c.2114G>C (p.Gly705Ala) c.1958G>C (p.Gly653Ala) c.1889G>C (p.Gly630Ala) | |
| 6 | g.33171792C>T | CA363636545 | COL11A2 | c.3071G>A (p.Gly1024Glu) c.2750G>A (p.Gly917Glu) c.2813G>A (p.Gly938Glu) n.272+5217G>A c.2225G>A (p.Gly742Glu) c.2357G>A (p.Gly786Glu) c.2177G>A (p.Gly726Glu) c.2114G>A (p.Gly705Glu) c.1958G>A (p.Gly653Glu) c.1889G>A (p.Gly630Glu) | |
| 6 | g.33171793C>A | CA363636546 | COL11A2 | c.3070G>T (p.Gly1024Ter) c.2749G>T (p.Gly917Ter) c.2812G>T (p.Gly938Ter) n.272+5216G>T c.2224G>T (p.Gly742Ter) c.2356G>T (p.Gly786Ter) c.2176G>T (p.Gly726Ter) c.2113G>T (p.Gly705Ter) c.1957G>T (p.Gly653Ter) c.1888G>T (p.Gly630Ter) | gnomAD v4 |
| 6 | g.33171793C>G | CA363636547 | COL11A2 | c.3070G>C (p.Gly1024Arg) c.2749G>C (p.Gly917Arg) c.2812G>C (p.Gly938Arg) n.272+5216G>C c.2224G>C (p.Gly742Arg) c.2356G>C (p.Gly786Arg) c.2176G>C (p.Gly726Arg) c.2113G>C (p.Gly705Arg) c.1957G>C (p.Gly653Arg) c.1888G>C (p.Gly630Arg) | |
| 6 | g.33171793C>T | CA363636548 | COL11A2 | c.3070G>A (p.Gly1024Arg) c.2749G>A (p.Gly917Arg) c.2812G>A (p.Gly938Arg) n.272+5216G>A c.2224G>A (p.Gly742Arg) c.2356G>A (p.Gly786Arg) c.2176G>A (p.Gly726Arg) c.2113G>A (p.Gly705Arg) c.1957G>A (p.Gly653Arg) c.1888G>A (p.Gly630Arg) | |
| 6 | g.33171794T>A | CA449878350 | COL11A2 | c.3069A>T (p.Ala1023=) c.2748A>T (p.Ala916=) c.2811A>T (p.Ala937=) n.272+5215A>T c.2223A>T (p.Ala741=) c.2355A>T (p.Ala785=) c.2175A>T (p.Ala725=) c.2112A>T (p.Ala704=) c.1956A>T (p.Ala652=) c.1887A>T (p.Ala629=) | |
| 6 | g.33171794T>C | CA449878351 | COL11A2 | c.3069A>G (p.Ala1023=) c.2748A>G (p.Ala916=) c.2811A>G (p.Ala937=) n.272+5215A>G c.2223A>G (p.Ala741=) c.2355A>G (p.Ala785=) c.2175A>G (p.Ala725=) c.2112A>G (p.Ala704=) c.1956A>G (p.Ala652=) c.1887A>G (p.Ala629=) | |
| 6 | g.33171794T>G | CA449878353 | COL11A2 | c.3069A>C (p.Ala1023=) c.2748A>C (p.Ala916=) c.2811A>C (p.Ala937=) n.272+5215A>C c.2223A>C (p.Ala741=) c.2355A>C (p.Ala785=) c.2175A>C (p.Ala725=) c.2112A>C (p.Ala704=) c.1956A>C (p.Ala652=) c.1887A>C (p.Ala629=) | |
| 6 | g.33171795G>A | CA3750645 | COL11A2 | c.3068C>T (p.Ala1023Val) c.2747C>T (p.Ala916Val) c.2810C>T (p.Ala937Val) n.272+5214C>T c.2222C>T (p.Ala741Val) c.2354C>T (p.Ala785Val) c.2174C>T (p.Ala725Val) c.2111C>T (p.Ala704Val) c.1955C>T (p.Ala652Val) c.1886C>T (p.Ala629Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171795G>C | CA363636549 | COL11A2 | c.3068C>G (p.Ala1023Gly) c.2747C>G (p.Ala916Gly) c.2810C>G (p.Ala937Gly) n.272+5214C>G c.2222C>G (p.Ala741Gly) c.2354C>G (p.Ala785Gly) c.2174C>G (p.Ala725Gly) c.2111C>G (p.Ala704Gly) c.1955C>G (p.Ala652Gly) c.1886C>G (p.Ala629Gly) | |
| 6 | g.33171795G= | CA1619897213 | COL11A2 | c.3068C= (p.Ala1023=) c.2747C= (p.Ala916=) c.2810C= (p.Ala937=) n.272+5214C= c.2222C= (p.Ala741=) c.2354C= (p.Ala785=) c.2174C= (p.Ala725=) c.2111C= (p.Ala704=) c.1955C= (p.Ala652=) c.1886C= (p.Ala629=) | |
| 6 | g.33171795G>T | CA363636550 | COL11A2 | c.3068C>A (p.Ala1023Glu) c.2747C>A (p.Ala916Glu) c.2810C>A (p.Ala937Glu) n.272+5214C>A c.2222C>A (p.Ala741Glu) c.2354C>A (p.Ala785Glu) c.2174C>A (p.Ala725Glu) c.2111C>A (p.Ala704Glu) c.1955C>A (p.Ala652Glu) c.1886C>A (p.Ala629Glu) | |
| 6 | g.33171796C>A | CA363636551 | COL11A2 | c.3067G>T (p.Ala1023Ser) c.2746G>T (p.Ala916Ser) c.2809G>T (p.Ala937Ser) n.272+5213G>T c.2221G>T (p.Ala741Ser) c.2353G>T (p.Ala785Ser) c.2173G>T (p.Ala725Ser) c.2110G>T (p.Ala704Ser) c.1954G>T (p.Ala652Ser) c.1885G>T (p.Ala629Ser) | |
| 6 | g.33171796C>G | CA363636552 | COL11A2 | c.3067G>C (p.Ala1023Pro) c.2746G>C (p.Ala916Pro) c.2809G>C (p.Ala937Pro) n.272+5213G>C c.2221G>C (p.Ala741Pro) c.2353G>C (p.Ala785Pro) c.2173G>C (p.Ala725Pro) c.2110G>C (p.Ala704Pro) c.1954G>C (p.Ala652Pro) c.1885G>C (p.Ala629Pro) | |
| 6 | g.33171796C>T | CA363636553 | COL11A2 | c.3067G>A (p.Ala1023Thr) c.2746G>A (p.Ala916Thr) c.2809G>A (p.Ala937Thr) n.272+5213G>A c.2221G>A (p.Ala741Thr) c.2353G>A (p.Ala785Thr) c.2173G>A (p.Ala725Thr) c.2110G>A (p.Ala704Thr) c.1954G>A (p.Ala652Thr) c.1885G>A (p.Ala629Thr) | |
| 6 | g.33171797T>A | CA449878363 | COL11A2 | c.3066A>T (p.Ala1022=) c.2745A>T (p.Ala915=) c.2808A>T (p.Ala936=) n.272+5212A>T c.2220A>T (p.Ala740=) c.2352A>T (p.Ala784=) c.2172A>T (p.Ala724=) c.2109A>T (p.Ala703=) c.1953A>T (p.Ala651=) c.1884A>T (p.Ala628=) | |
| 6 | g.33171797T>C | CA449878365 | COL11A2 | c.3066A>G (p.Ala1022=) c.2745A>G (p.Ala915=) c.2808A>G (p.Ala936=) n.272+5212A>G c.2220A>G (p.Ala740=) c.2352A>G (p.Ala784=) c.2172A>G (p.Ala724=) c.2109A>G (p.Ala703=) c.1953A>G (p.Ala651=) c.1884A>G (p.Ala628=) | |
| 6 | g.33171797T>G | CA449878367 | COL11A2 | c.3066A>C (p.Ala1022=) c.2745A>C (p.Ala915=) c.2808A>C (p.Ala936=) n.272+5212A>C c.2220A>C (p.Ala740=) c.2352A>C (p.Ala784=) c.2172A>C (p.Ala724=) c.2109A>C (p.Ala703=) c.1953A>C (p.Ala651=) c.1884A>C (p.Ala628=) | |
| 6 | g.33171798G>A | CA363636554 | COL11A2 | c.3065C>T (p.Ala1022Val) c.2744C>T (p.Ala915Val) c.2807C>T (p.Ala936Val) n.272+5211C>T c.2219C>T (p.Ala740Val) c.2351C>T (p.Ala784Val) c.2171C>T (p.Ala724Val) c.2108C>T (p.Ala703Val) c.1952C>T (p.Ala651Val) c.1883C>T (p.Ala628Val) | gnomAD v4 |
| 6 | g.33171798G>C | CA363636556 | COL11A2 | c.3065C>G (p.Ala1022Gly) c.2744C>G (p.Ala915Gly) c.2807C>G (p.Ala936Gly) n.272+5211C>G c.2219C>G (p.Ala740Gly) c.2351C>G (p.Ala784Gly) c.2171C>G (p.Ala724Gly) c.2108C>G (p.Ala703Gly) c.1952C>G (p.Ala651Gly) c.1883C>G (p.Ala628Gly) | |
| 6 | g.33171798G>T | CA363636555 | COL11A2 | c.3065C>A (p.Ala1022Glu) c.2744C>A (p.Ala915Glu) c.2807C>A (p.Ala936Glu) n.272+5211C>A c.2219C>A (p.Ala740Glu) c.2351C>A (p.Ala784Glu) c.2171C>A (p.Ala724Glu) c.2108C>A (p.Ala703Glu) c.1952C>A (p.Ala651Glu) c.1883C>A (p.Ala628Glu) | |
| 6 | g.33171799C>A | CA363636557 | COL11A2 | c.3064G>T (p.Ala1022Ser) c.2743G>T (p.Ala915Ser) c.2806G>T (p.Ala936Ser) n.272+5210G>T c.2218G>T (p.Ala740Ser) c.2350G>T (p.Ala784Ser) c.2170G>T (p.Ala724Ser) c.2107G>T (p.Ala703Ser) c.1951G>T (p.Ala651Ser) c.1882G>T (p.Ala628Ser) | |
| 6 | g.33171799C= | CA1619897214 | COL11A2 | c.3064G= (p.Ala1022=) c.2743G= (p.Ala915=) c.2806G= (p.Ala936=) n.272+5210G= c.2218G= (p.Ala740=) c.2350G= (p.Ala784=) c.2170G= (p.Ala724=) c.2107G= (p.Ala703=) c.1951G= (p.Ala651=) c.1882G= (p.Ala628=) | |
| 6 | g.33171799C>G | CA363636558 | COL11A2 | c.3064G>C (p.Ala1022Pro) c.2743G>C (p.Ala915Pro) c.2806G>C (p.Ala936Pro) n.272+5210G>C c.2218G>C (p.Ala740Pro) c.2350G>C (p.Ala784Pro) c.2170G>C (p.Ala724Pro) c.2107G>C (p.Ala703Pro) c.1951G>C (p.Ala651Pro) c.1882G>C (p.Ala628Pro) | |
| 6 | g.33171799C>T | CA363636559 | COL11A2 | c.3064G>A (p.Ala1022Thr) c.2743G>A (p.Ala915Thr) c.2806G>A (p.Ala936Thr) n.272+5210G>A c.2218G>A (p.Ala740Thr) c.2350G>A (p.Ala784Thr) c.2170G>A (p.Ala724Thr) c.2107G>A (p.Ala703Thr) c.1951G>A (p.Ala651Thr) c.1882G>A (p.Ala628Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171800A>C | CA449878376 | COL11A2 | c.3063T>G (p.Gly1021=) c.2742T>G (p.Gly914=) c.2805T>G (p.Gly935=) n.272+5209T>G c.2217T>G (p.Gly739=) c.2349T>G (p.Gly783=) c.2169T>G (p.Gly723=) c.2106T>G (p.Gly702=) c.1950T>G (p.Gly650=) c.1881T>G (p.Gly627=) | |
| 6 | g.33171800A>G | CA449878378 | COL11A2 | c.3063T>C (p.Gly1021=) c.2742T>C (p.Gly914=) c.2805T>C (p.Gly935=) n.272+5209T>C c.2217T>C (p.Gly739=) c.2349T>C (p.Gly783=) c.2169T>C (p.Gly723=) c.2106T>C (p.Gly702=) c.1950T>C (p.Gly650=) c.1881T>C (p.Gly627=) | ClinVar |
| 6 | g.33171800A>T | CA449878379 | COL11A2 | c.3063T>A (p.Gly1021=) c.2742T>A (p.Gly914=) c.2805T>A (p.Gly935=) n.272+5209T>A c.2217T>A (p.Gly739=) c.2349T>A (p.Gly783=) c.2169T>A (p.Gly723=) c.2106T>A (p.Gly702=) c.1950T>A (p.Gly650=) c.1881T>A (p.Gly627=) | |
| 6 | g.33171801C>A | CA363636560 | COL11A2 | c.3062G>T (p.Gly1021Val) c.2741G>T (p.Gly914Val) c.2804G>T (p.Gly935Val) n.272+5208G>T c.2216G>T (p.Gly739Val) c.2348G>T (p.Gly783Val) c.2168G>T (p.Gly723Val) c.2105G>T (p.Gly702Val) c.1949G>T (p.Gly650Val) c.1880G>T (p.Gly627Val) | gnomAD v4 |
| 6 | g.33171801C= | CA1619897215 | COL11A2 | c.3062G= (p.Gly1021=) c.2741G= (p.Gly914=) c.2804G= (p.Gly935=) n.272+5208G= c.2216G= (p.Gly739=) c.2348G= (p.Gly783=) c.2168G= (p.Gly723=) c.2105G= (p.Gly702=) c.1949G= (p.Gly650=) c.1880G= (p.Gly627=) | |
| 6 | g.33171801C>G | CA137067544 | COL11A2 | c.3062G>C (p.Gly1021Ala) c.2741G>C (p.Gly914Ala) c.2804G>C (p.Gly935Ala) n.272+5208G>C c.2216G>C (p.Gly739Ala) c.2348G>C (p.Gly783Ala) c.2168G>C (p.Gly723Ala) c.2105G>C (p.Gly702Ala) c.1949G>C (p.Gly650Ala) c.1880G>C (p.Gly627Ala) | dbSNP |
| 6 | g.33171801C>T | CA363636561 | COL11A2 | c.3062G>A (p.Gly1021Asp) c.2741G>A (p.Gly914Asp) c.2804G>A (p.Gly935Asp) n.272+5208G>A c.2216G>A (p.Gly739Asp) c.2348G>A (p.Gly783Asp) c.2168G>A (p.Gly723Asp) c.2105G>A (p.Gly702Asp) c.1949G>A (p.Gly650Asp) c.1880G>A (p.Gly627Asp) | gnomAD v4 |
| 6 | g.33171802C>A | CA363636562 | COL11A2 | c.3061G>T (p.Gly1021Cys) c.2740G>T (p.Gly914Cys) c.2803G>T (p.Gly935Cys) n.272+5207G>T c.2215G>T (p.Gly739Cys) c.2347G>T (p.Gly783Cys) c.2167G>T (p.Gly723Cys) c.2104G>T (p.Gly702Cys) c.1948G>T (p.Gly650Cys) c.1879G>T (p.Gly627Cys) | |
| 6 | g.33171802C= | CA1619897216 | COL11A2 | c.3061G= (p.Gly1021=) c.2740G= (p.Gly914=) c.2803G= (p.Gly935=) n.272+5207G= c.2215G= (p.Gly739=) c.2347G= (p.Gly783=) c.2167G= (p.Gly723=) c.2104G= (p.Gly702=) c.1948G= (p.Gly650=) c.1879G= (p.Gly627=) | |
| 6 | g.33171802C>G | CA363636563 | COL11A2 | c.3061G>C (p.Gly1021Arg) c.2740G>C (p.Gly914Arg) c.2803G>C (p.Gly935Arg) n.272+5207G>C c.2215G>C (p.Gly739Arg) c.2347G>C (p.Gly783Arg) c.2167G>C (p.Gly723Arg) c.2104G>C (p.Gly702Arg) c.1948G>C (p.Gly650Arg) c.1879G>C (p.Gly627Arg) | |
| 6 | g.33171802C>T | CA137067548 | COL11A2 | c.3061G>A (p.Gly1021Ser) c.2740G>A (p.Gly914Ser) c.2803G>A (p.Gly935Ser) n.272+5207G>A c.2215G>A (p.Gly739Ser) c.2347G>A (p.Gly783Ser) c.2167G>A (p.Gly723Ser) c.2104G>A (p.Gly702Ser) c.1948G>A (p.Gly650Ser) c.1879G>A (p.Gly627Ser) | dbSNP |
| 6 | g.33171803T>A | CA449878389 | COL11A2 | c.3060A>T (p.Arg1020=) c.2739A>T (p.Arg913=) c.2802A>T (p.Arg934=) n.272+5206A>T c.2214A>T (p.Arg738=) c.2346A>T (p.Arg782=) c.2166A>T (p.Arg722=) c.2103A>T (p.Arg701=) c.1947A>T (p.Arg649=) c.1878A>T (p.Arg626=) | |
| 6 | g.33171803T>C | CA449878390 | COL11A2 | c.3060A>G (p.Arg1020=) c.2739A>G (p.Arg913=) c.2802A>G (p.Arg934=) n.272+5206A>G c.2214A>G (p.Arg738=) c.2346A>G (p.Arg782=) c.2166A>G (p.Arg722=) c.2103A>G (p.Arg701=) c.1947A>G (p.Arg649=) c.1878A>G (p.Arg626=) | |
| 6 | g.33171803T>G | CA449878391 | COL11A2 | c.3060A>C (p.Arg1020=) c.2739A>C (p.Arg913=) c.2802A>C (p.Arg934=) n.272+5206A>C c.2214A>C (p.Arg738=) c.2346A>C (p.Arg782=) c.2166A>C (p.Arg722=) c.2103A>C (p.Arg701=) c.1947A>C (p.Arg649=) c.1878A>C (p.Arg626=) | |
| 6 | g.33171804C>A | CA363636564 | COL11A2 | c.3059G>T (p.Arg1020Leu) c.2738G>T (p.Arg913Leu) c.2801G>T (p.Arg934Leu) n.272+5205G>T c.2213G>T (p.Arg738Leu) c.2345G>T (p.Arg782Leu) c.2165G>T (p.Arg722Leu) c.2102G>T (p.Arg701Leu) c.1946G>T (p.Arg649Leu) c.1877G>T (p.Arg626Leu) | |
| 6 | g.33171804C= | CA1619897217 | COL11A2 | c.3059G= (p.Arg1020=) c.2738G= (p.Arg913=) c.2801G= (p.Arg934=) n.272+5205G= c.2213G= (p.Arg738=) c.2345G= (p.Arg782=) c.2165G= (p.Arg722=) c.2102G= (p.Arg701=) c.1946G= (p.Arg649=) c.1877G= (p.Arg626=) | |
| 6 | g.33171804C>G | CA363636565 | COL11A2 | c.3059G>C (p.Arg1020Pro) c.2738G>C (p.Arg913Pro) c.2801G>C (p.Arg934Pro) n.272+5205G>C c.2213G>C (p.Arg738Pro) c.2345G>C (p.Arg782Pro) c.2165G>C (p.Arg722Pro) c.2102G>C (p.Arg701Pro) c.1946G>C (p.Arg649Pro) c.1877G>C (p.Arg626Pro) | |
| 6 | g.33171804C>T | CA3750646 | COL11A2 | c.3059G>A (p.Arg1020Gln) c.2738G>A (p.Arg913Gln) c.2801G>A (p.Arg934Gln) n.272+5205G>A c.2213G>A (p.Arg738Gln) c.2345G>A (p.Arg782Gln) c.2165G>A (p.Arg722Gln) c.2102G>A (p.Arg701Gln) c.1946G>A (p.Arg649Gln) c.1877G>A (p.Arg626Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171805G>A | CA16618279 | COL11A2 | c.3058C>T (p.Arg1020Ter) c.2737C>T (p.Arg913Ter) c.2800C>T (p.Arg934Ter) n.272+5204C>T c.2212C>T (p.Arg738Ter) c.2344C>T (p.Arg782Ter) c.2164C>T (p.Arg722Ter) c.2101C>T (p.Arg701Ter) c.1945C>T (p.Arg649Ter) c.1876C>T (p.Arg626Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171805G>C | CA363636566 | COL11A2 | c.3058C>G (p.Arg1020Gly) c.2737C>G (p.Arg913Gly) c.2800C>G (p.Arg934Gly) n.272+5204C>G c.2212C>G (p.Arg738Gly) c.2344C>G (p.Arg782Gly) c.2164C>G (p.Arg722Gly) c.2101C>G (p.Arg701Gly) c.1945C>G (p.Arg649Gly) c.1876C>G (p.Arg626Gly) | |
| 6 | g.33171805G= | CA1619897218 | COL11A2 | c.3058C= (p.Arg1020=) c.2737C= (p.Arg913=) c.2800C= (p.Arg934=) n.272+5204C= c.2212C= (p.Arg738=) c.2344C= (p.Arg782=) c.2164C= (p.Arg722=) c.2101C= (p.Arg701=) c.1945C= (p.Arg649=) c.1876C= (p.Arg626=) | |
| 6 | g.33171805G>T | CA449878400 | COL11A2 | c.3058C>A (p.Arg1020=) c.2737C>A (p.Arg913=) c.2800C>A (p.Arg934=) n.272+5204C>A c.2212C>A (p.Arg738=) c.2344C>A (p.Arg782=) c.2164C>A (p.Arg722=) c.2101C>A (p.Arg701=) c.1945C>A (p.Arg649=) c.1876C>A (p.Arg626=) | |
| 6 | g.33171806T>A | CA363636567 | COL11A2 | c.3057A>T (p.Glu1019Asp) c.2736A>T (p.Glu912Asp) c.2799A>T (p.Glu933Asp) n.272+5203A>T c.2211A>T (p.Glu737Asp) c.2343A>T (p.Glu781Asp) c.2163A>T (p.Glu721Asp) c.2100A>T (p.Glu700Asp) c.1944A>T (p.Glu648Asp) c.1875A>T (p.Glu625Asp) | |
| 6 | g.33171806T>C | CA449878402 | COL11A2 | c.3057A>G (p.Glu1019=) c.2736A>G (p.Glu912=) c.2799A>G (p.Glu933=) n.272+5203A>G c.2211A>G (p.Glu737=) c.2343A>G (p.Glu781=) c.2163A>G (p.Glu721=) c.2100A>G (p.Glu700=) c.1944A>G (p.Glu648=) c.1875A>G (p.Glu625=) | gnomAD v4 COSMIC |
| 6 | g.33171806T>G | CA363636568 | COL11A2 | c.3057A>C (p.Glu1019Asp) c.2736A>C (p.Glu912Asp) c.2799A>C (p.Glu933Asp) n.272+5203A>C c.2211A>C (p.Glu737Asp) c.2343A>C (p.Glu781Asp) c.2163A>C (p.Glu721Asp) c.2100A>C (p.Glu700Asp) c.1944A>C (p.Glu648Asp) c.1875A>C (p.Glu625Asp) | |
| 6 | g.33171807T>A | CA363636569 | COL11A2 | c.3056A>T (p.Glu1019Val) c.2735A>T (p.Glu912Val) c.2798A>T (p.Glu933Val) n.272+5202A>T c.2210A>T (p.Glu737Val) c.2342A>T (p.Glu781Val) c.2162A>T (p.Glu721Val) c.2099A>T (p.Glu700Val) c.1943A>T (p.Glu648Val) c.1874A>T (p.Glu625Val) | gnomAD v4 |
| 6 | g.33171807T>C | CA363636570 | COL11A2 | c.3056A>G (p.Glu1019Gly) c.2735A>G (p.Glu912Gly) c.2798A>G (p.Glu933Gly) n.272+5202A>G c.2210A>G (p.Glu737Gly) c.2342A>G (p.Glu781Gly) c.2162A>G (p.Glu721Gly) c.2099A>G (p.Glu700Gly) c.1943A>G (p.Glu648Gly) c.1874A>G (p.Glu625Gly) | ClinVar dbSNP |
| 6 | g.33171807T>G | CA363636571 | COL11A2 | c.3056A>C (p.Glu1019Ala) c.2735A>C (p.Glu912Ala) c.2798A>C (p.Glu933Ala) n.272+5202A>C c.2210A>C (p.Glu737Ala) c.2342A>C (p.Glu781Ala) c.2162A>C (p.Glu721Ala) c.2099A>C (p.Glu700Ala) c.1943A>C (p.Glu648Ala) c.1874A>C (p.Glu625Ala) | |
| 6 | g.33171808C>A | CA363636572 | COL11A2 | c.3055G>T (p.Glu1019Ter) c.2734G>T (p.Glu912Ter) c.2797G>T (p.Glu933Ter) n.272+5201G>T c.2209G>T (p.Glu737Ter) c.2341G>T (p.Glu781Ter) c.2161G>T (p.Glu721Ter) c.2098G>T (p.Glu700Ter) c.1942G>T (p.Glu648Ter) c.1873G>T (p.Glu625Ter) | dbSNP |
| 6 | g.33171808C= | CA1619897219 | COL11A2 | c.3055G= (p.Glu1019=) c.2734G= (p.Glu912=) c.2797G= (p.Glu933=) n.272+5201G= c.2209G= (p.Glu737=) c.2341G= (p.Glu781=) c.2161G= (p.Glu721=) c.2098G= (p.Glu700=) c.1942G= (p.Glu648=) c.1873G= (p.Glu625=) | |
| 6 | g.33171808C>G | CA363636573 | COL11A2 | c.3055G>C (p.Glu1019Gln) c.2734G>C (p.Glu912Gln) c.2797G>C (p.Glu933Gln) n.272+5201G>C c.2209G>C (p.Glu737Gln) c.2341G>C (p.Glu781Gln) c.2161G>C (p.Glu721Gln) c.2098G>C (p.Glu700Gln) c.1942G>C (p.Glu648Gln) c.1873G>C (p.Glu625Gln) | ClinVar dbSNP |
| 6 | g.33171808C>T | CA3750647 | COL11A2 | c.3055G>A (p.Glu1019Lys) c.2734G>A (p.Glu912Lys) c.2797G>A (p.Glu933Lys) n.272+5201G>A c.2209G>A (p.Glu737Lys) c.2341G>A (p.Glu781Lys) c.2161G>A (p.Glu721Lys) c.2098G>A (p.Glu700Lys) c.1942G>A (p.Glu648Lys) c.1873G>A (p.Glu625Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171809C>A | CA449878415 | COL11A2 | c.3054G>T (p.Gly1018=) c.2733G>T (p.Gly911=) c.2796G>T (p.Gly932=) n.272+5200G>T c.2208G>T (p.Gly736=) c.2340G>T (p.Gly780=) c.2160G>T (p.Gly720=) c.2097G>T (p.Gly699=) c.1941G>T (p.Gly647=) c.1872G>T (p.Gly624=) | |
| 6 | g.33171809C= | CA1619897220 | COL11A2 | c.3054G= (p.Gly1018=) c.2733G= (p.Gly911=) c.2796G= (p.Gly932=) n.272+5200G= c.2208G= (p.Gly736=) c.2340G= (p.Gly780=) c.2160G= (p.Gly720=) c.2097G= (p.Gly699=) c.1941G= (p.Gly647=) c.1872G= (p.Gly624=) | |
| 6 | g.33171809C>G | CA449878416 | COL11A2 | c.3054G>C (p.Gly1018=) c.2733G>C (p.Gly911=) c.2796G>C (p.Gly932=) n.272+5200G>C c.2208G>C (p.Gly736=) c.2340G>C (p.Gly780=) c.2160G>C (p.Gly720=) c.2097G>C (p.Gly699=) c.1941G>C (p.Gly647=) c.1872G>C (p.Gly624=) | |
| 6 | g.33171809C>T | CA3750648 | COL11A2 | c.3054G>A (p.Gly1018=) c.2733G>A (p.Gly911=) c.2796G>A (p.Gly932=) n.272+5200G>A c.2208G>A (p.Gly736=) c.2340G>A (p.Gly780=) c.2160G>A (p.Gly720=) c.2097G>A (p.Gly699=) c.1941G>A (p.Gly647=) c.1872G>A (p.Gly624=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.33171810C>A | CA363636574 | COL11A2 | c.3053G>T (p.Gly1018Val) c.2732G>T (p.Gly911Val) c.2795G>T (p.Gly932Val) n.272+5199G>T c.2207G>T (p.Gly736Val) c.2339G>T (p.Gly780Val) c.2159G>T (p.Gly720Val) c.2096G>T (p.Gly699Val) c.1940G>T (p.Gly647Val) c.1871G>T (p.Gly624Val) | |
| 6 | g.33171810C>G | CA363636575 | COL11A2 | c.3053G>C (p.Gly1018Ala) c.2732G>C (p.Gly911Ala) c.2795G>C (p.Gly932Ala) n.272+5199G>C c.2207G>C (p.Gly736Ala) c.2339G>C (p.Gly780Ala) c.2159G>C (p.Gly720Ala) c.2096G>C (p.Gly699Ala) c.1940G>C (p.Gly647Ala) c.1871G>C (p.Gly624Ala) | |
| 6 | g.33171810C>T | CA363636576 | COL11A2 | c.3053G>A (p.Gly1018Glu) c.2732G>A (p.Gly911Glu) c.2795G>A (p.Gly932Glu) n.272+5199G>A c.2207G>A (p.Gly736Glu) c.2339G>A (p.Gly780Glu) c.2159G>A (p.Gly720Glu) c.2096G>A (p.Gly699Glu) c.1940G>A (p.Gly647Glu) c.1871G>A (p.Gly624Glu) | |
| 6 | g.33171811C>A | CA363636577 | COL11A2 | c.3052G>T (p.Gly1018Trp) c.2731G>T (p.Gly911Trp) c.2794G>T (p.Gly932Trp) n.272+5198G>T c.2206G>T (p.Gly736Trp) c.2338G>T (p.Gly780Trp) c.2158G>T (p.Gly720Trp) c.2095G>T (p.Gly699Trp) c.1939G>T (p.Gly647Trp) c.1870G>T (p.Gly624Trp) | |
| 6 | g.33171811C>G | CA363636578 | COL11A2 | c.3052G>C (p.Gly1018Arg) c.2731G>C (p.Gly911Arg) c.2794G>C (p.Gly932Arg) n.272+5198G>C c.2206G>C (p.Gly736Arg) c.2338G>C (p.Gly780Arg) c.2158G>C (p.Gly720Arg) c.2095G>C (p.Gly699Arg) c.1939G>C (p.Gly647Arg) c.1870G>C (p.Gly624Arg) | |
| 6 | g.33171811C>T | CA363636579 | COL11A2 | c.3052G>A (p.Gly1018Arg) c.2731G>A (p.Gly911Arg) c.2794G>A (p.Gly932Arg) n.272+5198G>A c.2206G>A (p.Gly736Arg) c.2338G>A (p.Gly780Arg) c.2158G>A (p.Gly720Arg) c.2095G>A (p.Gly699Arg) c.1939G>A (p.Gly647Arg) c.1870G>A (p.Gly624Arg) | |
| 6 | g.33171812A>C | CA449878429 | COL11A2 | c.3051T>G (p.Pro1017=) c.2730T>G (p.Pro910=) c.2793T>G (p.Pro931=) n.272+5197T>G c.2205T>G (p.Pro735=) c.2337T>G (p.Pro779=) c.2157T>G (p.Pro719=) c.2094T>G (p.Pro698=) c.1938T>G (p.Pro646=) c.1869T>G (p.Pro623=) | |
| 6 | g.33171812A>G | CA449878427 | COL11A2 | c.3051T>C (p.Pro1017=) c.2730T>C (p.Pro910=) c.2793T>C (p.Pro931=) n.272+5197T>C c.2205T>C (p.Pro735=) c.2337T>C (p.Pro779=) c.2157T>C (p.Pro719=) c.2094T>C (p.Pro698=) c.1938T>C (p.Pro646=) c.1869T>C (p.Pro623=) | |
| 6 | g.33171812A>T | CA449878430 | COL11A2 | c.3051T>A (p.Pro1017=) c.2730T>A (p.Pro910=) c.2793T>A (p.Pro931=) n.272+5197T>A c.2205T>A (p.Pro735=) c.2337T>A (p.Pro779=) c.2157T>A (p.Pro719=) c.2094T>A (p.Pro698=) c.1938T>A (p.Pro646=) c.1869T>A (p.Pro623=) | |
| 6 | g.33171813G>A | CA363636581 | COL11A2 | c.3050C>T (p.Pro1017Leu) c.2729C>T (p.Pro910Leu) c.2792C>T (p.Pro931Leu) n.272+5196C>T c.2204C>T (p.Pro735Leu) c.2336C>T (p.Pro779Leu) c.2156C>T (p.Pro719Leu) c.2093C>T (p.Pro698Leu) c.1937C>T (p.Pro646Leu) c.1868C>T (p.Pro623Leu) | |
| 6 | g.33171813G>C | CA363636582 | COL11A2 | c.3050C>G (p.Pro1017Arg) c.2729C>G (p.Pro910Arg) c.2792C>G (p.Pro931Arg) n.272+5196C>G c.2204C>G (p.Pro735Arg) c.2336C>G (p.Pro779Arg) c.2156C>G (p.Pro719Arg) c.2093C>G (p.Pro698Arg) c.1937C>G (p.Pro646Arg) c.1868C>G (p.Pro623Arg) | |
| 6 | g.33171813G>T | CA363636580 | COL11A2 | c.3050C>A (p.Pro1017His) c.2729C>A (p.Pro910His) c.2792C>A (p.Pro931His) n.272+5196C>A c.2204C>A (p.Pro735His) c.2336C>A (p.Pro779His) c.2156C>A (p.Pro719His) c.2093C>A (p.Pro698His) c.1937C>A (p.Pro646His) c.1868C>A (p.Pro623His) | |
| 6 | g.33171814G>A | CA363636584 | COL11A2 | c.3049C>T (p.Pro1017Ser) c.2728C>T (p.Pro910Ser) c.2791C>T (p.Pro931Ser) n.272+5195C>T c.2203C>T (p.Pro735Ser) c.2335C>T (p.Pro779Ser) c.2155C>T (p.Pro719Ser) c.2092C>T (p.Pro698Ser) c.1936C>T (p.Pro646Ser) c.1867C>T (p.Pro623Ser) | dbSNP gnomAD v4 |
| 6 | g.33171814G>C | CA363636583 | COL11A2 | c.3049C>G (p.Pro1017Ala) c.2728C>G (p.Pro910Ala) c.2791C>G (p.Pro931Ala) n.272+5195C>G c.2203C>G (p.Pro735Ala) c.2335C>G (p.Pro779Ala) c.2155C>G (p.Pro719Ala) c.2092C>G (p.Pro698Ala) c.1936C>G (p.Pro646Ala) c.1867C>G (p.Pro623Ala) | |
| 6 | g.33171814G>T | CA363636585 | COL11A2 | c.3049C>A (p.Pro1017Thr) c.2728C>A (p.Pro910Thr) c.2791C>A (p.Pro931Thr) n.272+5195C>A c.2203C>A (p.Pro735Thr) c.2335C>A (p.Pro779Thr) c.2155C>A (p.Pro719Thr) c.2092C>A (p.Pro698Thr) c.1936C>A (p.Pro646Thr) c.1867C>A (p.Pro623Thr) | |
| 6 | g.33171815G>A | CA449878436 | COL11A2 | c.3048C>T (p.Ser1016=) c.2727C>T (p.Ser909=) c.2790C>T (p.Ser930=) n.272+5194C>T c.2202C>T (p.Ser734=) c.2334C>T (p.Ser778=) c.2154C>T (p.Ser718=) c.2091C>T (p.Ser697=) c.1935C>T (p.Ser645=) c.1866C>T (p.Ser622=) | dbSNP |
| 6 | g.33171815G>C | CA449878437 | COL11A2 | c.3048C>G (p.Ser1016=) c.2727C>G (p.Ser909=) c.2790C>G (p.Ser930=) n.272+5194C>G c.2202C>G (p.Ser734=) c.2334C>G (p.Ser778=) c.2154C>G (p.Ser718=) c.2091C>G (p.Ser697=) c.1935C>G (p.Ser645=) c.1866C>G (p.Ser622=) | gnomAD v4 |
| 6 | g.33171815G>T | CA449878439 | COL11A2 | c.3048C>A (p.Ser1016=) c.2727C>A (p.Ser909=) c.2790C>A (p.Ser930=) n.272+5194C>A c.2202C>A (p.Ser734=) c.2334C>A (p.Ser778=) c.2154C>A (p.Ser718=) c.2091C>A (p.Ser697=) c.1935C>A (p.Ser645=) c.1866C>A (p.Ser622=) | |
| 6 | g.33171816G>A | CA363636586 | COL11A2 | c.3047C>T (p.Ser1016Phe) c.2726C>T (p.Ser909Phe) c.2789C>T (p.Ser930Phe) n.272+5193C>T c.2201C>T (p.Ser734Phe) c.2333C>T (p.Ser778Phe) c.2153C>T (p.Ser718Phe) c.2090C>T (p.Ser697Phe) c.1934C>T (p.Ser645Phe) c.1865C>T (p.Ser622Phe) | gnomAD v4 |
| 6 | g.33171816G>C | CA363636587 | COL11A2 | c.3047C>G (p.Ser1016Cys) c.2726C>G (p.Ser909Cys) c.2789C>G (p.Ser930Cys) n.272+5193C>G c.2201C>G (p.Ser734Cys) c.2333C>G (p.Ser778Cys) c.2153C>G (p.Ser718Cys) c.2090C>G (p.Ser697Cys) c.1934C>G (p.Ser645Cys) c.1865C>G (p.Ser622Cys) | dbSNP |
| 6 | g.33171816G= | CA1619897221 | COL11A2 | c.3047C= (p.Ser1016=) c.2726C= (p.Ser909=) c.2789C= (p.Ser930=) n.272+5193C= c.2201C= (p.Ser734=) c.2333C= (p.Ser778=) c.2153C= (p.Ser718=) c.2090C= (p.Ser697=) c.1934C= (p.Ser645=) c.1865C= (p.Ser622=) | |
| 6 | g.33171816G>T | CA363636588 | COL11A2 | c.3047C>A (p.Ser1016Tyr) c.2726C>A (p.Ser909Tyr) c.2789C>A (p.Ser930Tyr) n.272+5193C>A c.2201C>A (p.Ser734Tyr) c.2333C>A (p.Ser778Tyr) c.2153C>A (p.Ser718Tyr) c.2090C>A (p.Ser697Tyr) c.1934C>A (p.Ser645Tyr) c.1865C>A (p.Ser622Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171817A>C | CA363636589 | COL11A2 | c.3046T>G (p.Ser1016Ala) c.2725T>G (p.Ser909Ala) c.2788T>G (p.Ser930Ala) n.272+5192T>G c.2200T>G (p.Ser734Ala) c.2332T>G (p.Ser778Ala) c.2152T>G (p.Ser718Ala) c.2089T>G (p.Ser697Ala) c.1933T>G (p.Ser645Ala) c.1864T>G (p.Ser622Ala) | |
| 6 | g.33171817A>G | CA363636590 | COL11A2 | c.3046T>C (p.Ser1016Pro) c.2725T>C (p.Ser909Pro) c.2788T>C (p.Ser930Pro) n.272+5192T>C c.2200T>C (p.Ser734Pro) c.2332T>C (p.Ser778Pro) c.2152T>C (p.Ser718Pro) c.2089T>C (p.Ser697Pro) c.1933T>C (p.Ser645Pro) c.1864T>C (p.Ser622Pro) | |
| 6 | g.33171817A>T | CA363636591 | COL11A2 | c.3046T>A (p.Ser1016Thr) c.2725T>A (p.Ser909Thr) c.2788T>A (p.Ser930Thr) n.272+5192T>A c.2200T>A (p.Ser734Thr) c.2332T>A (p.Ser778Thr) c.2152T>A (p.Ser718Thr) c.2089T>A (p.Ser697Thr) c.1933T>A (p.Ser645Thr) c.1864T>A (p.Ser622Thr) | |
| 6 | g.33171818G>A | CA3750649 | COL11A2 | c.3045C>T (p.Gly1015=) c.2724C>T (p.Gly908=) c.2787C>T (p.Gly929=) n.272+5191C>T c.2199C>T (p.Gly733=) c.2331C>T (p.Gly777=) c.2151C>T (p.Gly717=) c.2088C>T (p.Gly696=) c.1932C>T (p.Gly644=) c.1863C>T (p.Gly621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171818G>C | CA449878449 | COL11A2 | c.3045C>G (p.Gly1015=) c.2724C>G (p.Gly908=) c.2787C>G (p.Gly929=) n.272+5191C>G c.2199C>G (p.Gly733=) c.2331C>G (p.Gly777=) c.2151C>G (p.Gly717=) c.2088C>G (p.Gly696=) c.1932C>G (p.Gly644=) c.1863C>G (p.Gly621=) | |
| 6 | g.33171818G= | CA1619897222 | COL11A2 | c.3045C= (p.Gly1015=) c.2724C= (p.Gly908=) c.2787C= (p.Gly929=) n.272+5191C= c.2199C= (p.Gly733=) c.2331C= (p.Gly777=) c.2151C= (p.Gly717=) c.2088C= (p.Gly696=) c.1932C= (p.Gly644=) c.1863C= (p.Gly621=) | |
| 6 | g.33171818G>T | CA449878452 | COL11A2 | c.3045C>A (p.Gly1015=) c.2724C>A (p.Gly908=) c.2787C>A (p.Gly929=) n.272+5191C>A c.2199C>A (p.Gly733=) c.2331C>A (p.Gly777=) c.2151C>A (p.Gly717=) c.2088C>A (p.Gly696=) c.1932C>A (p.Gly644=) c.1863C>A (p.Gly621=) | |
| 6 | g.33171819C>A | CA363636592 | COL11A2 | c.3044G>T (p.Gly1015Val) c.2723G>T (p.Gly908Val) c.2786G>T (p.Gly929Val) n.272+5190G>T c.2198G>T (p.Gly733Val) c.2330G>T (p.Gly777Val) c.2150G>T (p.Gly717Val) c.2087G>T (p.Gly696Val) c.1931G>T (p.Gly644Val) c.1862G>T (p.Gly621Val) | |
| 6 | g.33171819C>G | CA363636593 | COL11A2 | c.3044G>C (p.Gly1015Ala) c.2723G>C (p.Gly908Ala) c.2786G>C (p.Gly929Ala) n.272+5190G>C c.2198G>C (p.Gly733Ala) c.2330G>C (p.Gly777Ala) c.2150G>C (p.Gly717Ala) c.2087G>C (p.Gly696Ala) c.1931G>C (p.Gly644Ala) c.1862G>C (p.Gly621Ala) | |
| 6 | g.33171819C>T | CA363636594 | COL11A2 | c.3044G>A (p.Gly1015Asp) c.2723G>A (p.Gly908Asp) c.2786G>A (p.Gly929Asp) n.272+5190G>A c.2198G>A (p.Gly733Asp) c.2330G>A (p.Gly777Asp) c.2150G>A (p.Gly717Asp) c.2087G>A (p.Gly696Asp) c.1931G>A (p.Gly644Asp) c.1862G>A (p.Gly621Asp) | |
| 6 | g.33171820C>A | CA363636595 | COL11A2 | c.3043G>T (p.Gly1015Cys) c.2722G>T (p.Gly908Cys) c.2785G>T (p.Gly929Cys) n.272+5189G>T c.2197G>T (p.Gly733Cys) c.2329G>T (p.Gly777Cys) c.2149G>T (p.Gly717Cys) c.2086G>T (p.Gly696Cys) c.1930G>T (p.Gly644Cys) c.1861G>T (p.Gly621Cys) | |
| 6 | g.33171820C>G | CA363636596 | COL11A2 | c.3043G>C (p.Gly1015Arg) c.2722G>C (p.Gly908Arg) c.2785G>C (p.Gly929Arg) n.272+5189G>C c.2197G>C (p.Gly733Arg) c.2329G>C (p.Gly777Arg) c.2149G>C (p.Gly717Arg) c.2086G>C (p.Gly696Arg) c.1930G>C (p.Gly644Arg) c.1861G>C (p.Gly621Arg) | |
| 6 | g.33171820C>T | CA363636597 | COL11A2 | c.3043G>A (p.Gly1015Ser) c.2722G>A (p.Gly908Ser) c.2785G>A (p.Gly929Ser) n.272+5189G>A c.2197G>A (p.Gly733Ser) c.2329G>A (p.Gly777Ser) c.2149G>A (p.Gly717Ser) c.2086G>A (p.Gly696Ser) c.1930G>A (p.Gly644Ser) c.1861G>A (p.Gly621Ser) | |
| 6 | g.33171821C>A | CA363636599 | COL11A2 | c.3043-1G>T (n.3043-1G>T) c.2722-1G>T (n.2722-1G>T) c.2785-1G>T (n.2785-1G>T) n.272+5188G>T c.2197-1G>T (n.2197-1G>T) c.2329-1G>T (n.2329-1G>T) c.2149-1G>T (n.2149-1G>T) c.2086-1G>T (n.2086-1G>T) c.1930-1G>T (n.1930-1G>T) c.1861-1G>T (n.1861-1G>T) | |
| 6 | g.33171821C= | CA1619897223 | COL11A2 | c.3043-1G= (n.3043-1G=) c.2722-1G= (n.2722-1G=) c.2785-1G= (n.2785-1G=) n.272+5188G= c.2197-1G= (n.2197-1G=) c.2329-1G= (n.2329-1G=) c.2149-1G= (n.2149-1G=) c.2086-1G= (n.2086-1G=) c.1930-1G= (n.1930-1G=) c.1861-1G= (n.1861-1G=) | |
| 6 | g.33171821C>G | CA363636600 | COL11A2 | c.3043-1G>C (n.3043-1G>C) c.2722-1G>C (n.2722-1G>C) c.2785-1G>C (n.2785-1G>C) n.272+5188G>C c.2197-1G>C (n.2197-1G>C) c.2329-1G>C (n.2329-1G>C) c.2149-1G>C (n.2149-1G>C) c.2086-1G>C (n.2086-1G>C) c.1930-1G>C (n.1930-1G>C) c.1861-1G>C (n.1861-1G>C) | |
| 6 | g.33171821C>T | CA363636598 | COL11A2 | c.3043-1G>A (n.3043-1G>A) c.2722-1G>A (n.2722-1G>A) c.2785-1G>A (n.2785-1G>A) n.272+5188G>A c.2197-1G>A (n.2197-1G>A) c.2329-1G>A (n.2329-1G>A) c.2149-1G>A (n.2149-1G>A) c.2086-1G>A (n.2086-1G>A) c.1930-1G>A (n.1930-1G>A) c.1861-1G>A (n.1861-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171822T>A | CA363636601 | COL11A2 | c.3043-2A>T (n.3043-2A>T) c.2722-2A>T (n.2722-2A>T) c.2785-2A>T (n.2785-2A>T) n.272+5187A>T c.2197-2A>T (n.2197-2A>T) c.2329-2A>T (n.2329-2A>T) c.2149-2A>T (n.2149-2A>T) c.2086-2A>T (n.2086-2A>T) c.1930-2A>T (n.1930-2A>T) c.1861-2A>T (n.1861-2A>T) | ClinVar |
| 6 | g.33171822T>C | CA363636602 | COL11A2 | c.3043-2A>G (n.3043-2A>G) c.2722-2A>G (n.2722-2A>G) c.2785-2A>G (n.2785-2A>G) n.272+5187A>G c.2197-2A>G (n.2197-2A>G) c.2329-2A>G (n.2329-2A>G) c.2149-2A>G (n.2149-2A>G) c.2086-2A>G (n.2086-2A>G) c.1930-2A>G (n.1930-2A>G) c.1861-2A>G (n.1861-2A>G) | |
| 6 | g.33171822T>G | CA363636603 | COL11A2 | c.3043-2A>C (n.3043-2A>C) c.2722-2A>C (n.2722-2A>C) c.2785-2A>C (n.2785-2A>C) n.272+5187A>C c.2197-2A>C (n.2197-2A>C) c.2329-2A>C (n.2329-2A>C) c.2149-2A>C (n.2149-2A>C) c.2086-2A>C (n.2086-2A>C) c.1930-2A>C (n.1930-2A>C) c.1861-2A>C (n.1861-2A>C) | |
| 6 | g.33171824A>G | CA2697553239 | COL11A2 | c.3043-4T>C (n.3043-4T>C) c.2722-4T>C (n.2722-4T>C) c.2785-4T>C (n.2785-4T>C) n.272+5185T>C c.2197-4T>C (n.2197-4T>C) c.2329-4T>C (n.2329-4T>C) c.2149-4T>C (n.2149-4T>C) c.2086-4T>C (n.2086-4T>C) c.1930-4T>C (n.1930-4T>C) c.1861-4T>C (n.1861-4T>C) | ClinVar |
| 6 | g.33171826A= | CA1619897224 | COL11A2 | c.3043-6T= (n.3043-6T=) c.2722-6T= (n.2722-6T=) c.2785-6T= (n.2785-6T=) n.272+5183T= c.2197-6T= (n.2197-6T=) c.2329-6T= (n.2329-6T=) c.2149-6T= (n.2149-6T=) c.2086-6T= (n.2086-6T=) c.1930-6T= (n.1930-6T=) c.1861-6T= (n.1861-6T=) | |
| 6 | g.33171826A>G | CA137067559 | COL11A2 | c.3043-6T>C (n.3043-6T>C) c.2722-6T>C (n.2722-6T>C) c.2785-6T>C (n.2785-6T>C) n.272+5183T>C c.2197-6T>C (n.2197-6T>C) c.2329-6T>C (n.2329-6T>C) c.2149-6T>C (n.2149-6T>C) c.2086-6T>C (n.2086-6T>C) c.1930-6T>C (n.1930-6T>C) c.1861-6T>C (n.1861-6T>C) | dbSNP |
| 6 | g.33171827A= | CA1619897225 | COL11A2 | c.3043-7T= (n.3043-7T=) c.2722-7T= (n.2722-7T=) c.2785-7T= (n.2785-7T=) n.272+5182T= c.2197-7T= (n.2197-7T=) c.2329-7T= (n.2329-7T=) c.2149-7T= (n.2149-7T=) c.2086-7T= (n.2086-7T=) c.1930-7T= (n.1930-7T=) c.1861-7T= (n.1861-7T=) | |
| 6 | g.33171827A>G | CA3750650 | COL11A2 | c.3043-7T>C (n.3043-7T>C) c.2722-7T>C (n.2722-7T>C) c.2785-7T>C (n.2785-7T>C) n.272+5182T>C c.2197-7T>C (n.2197-7T>C) c.2329-7T>C (n.2329-7T>C) c.2149-7T>C (n.2149-7T>C) c.2086-7T>C (n.2086-7T>C) c.1930-7T>C (n.1930-7T>C) c.1861-7T>C (n.1861-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33171830C>A | CA2678231634 | COL11A2 | c.3043-10G>T (n.3043-10G>T) c.2722-10G>T (n.2722-10G>T) c.2785-10G>T (n.2785-10G>T) n.272+5179G>T c.2197-10G>T (n.2197-10G>T) c.2329-10G>T (n.2329-10G>T) c.2149-10G>T (n.2149-10G>T) c.2086-10G>T (n.2086-10G>T) c.1930-10G>T (n.1930-10G>T) c.1861-10G>T (n.1861-10G>T) | gnomAD v4 |
| 6 | g.33171830C= | CA1619897226 | COL11A2 | c.3043-10G= (n.3043-10G=) c.2722-10G= (n.2722-10G=) c.2785-10G= (n.2785-10G=) n.272+5179G= c.2197-10G= (n.2197-10G=) c.2329-10G= (n.2329-10G=) c.2149-10G= (n.2149-10G=) c.2086-10G= (n.2086-10G=) c.1930-10G= (n.1930-10G=) c.1861-10G= (n.1861-10G=) | |
| 6 | g.33171830C>T | CA915944205 | COL11A2 | c.3043-10G>A (n.3043-10G>A) c.2722-10G>A (n.2722-10G>A) c.2785-10G>A (n.2785-10G>A) n.272+5179G>A c.2197-10G>A (n.2197-10G>A) c.2329-10G>A (n.2329-10G>A) c.2149-10G>A (n.2149-10G>A) c.2086-10G>A (n.2086-10G>A) c.1930-10G>A (n.1930-10G>A) c.1861-10G>A (n.1861-10G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33171832G>A | CA2678231637 | COL11A2 | c.3043-12C>T (n.3043-12C>T) c.2722-12C>T (n.2722-12C>T) c.2785-12C>T (n.2785-12C>T) n.272+5177C>T c.2197-12C>T (n.2197-12C>T) c.2329-12C>T (n.2329-12C>T) c.2149-12C>T (n.2149-12C>T) c.2086-12C>T (n.2086-12C>T) c.1930-12C>T (n.1930-12C>T) c.1861-12C>T (n.1861-12C>T) | dbSNP gnomAD v4 |
| 6 | g.33171833A>T | CA2678231638 | COL11A2 | c.3043-13T>A (n.3043-13T>A) c.2722-13T>A (n.2722-13T>A) c.2785-13T>A (n.2785-13T>A) n.272+5176T>A c.2197-13T>A (n.2197-13T>A) c.2329-13T>A (n.2329-13T>A) c.2149-13T>A (n.2149-13T>A) c.2086-13T>A (n.2086-13T>A) c.1930-13T>A (n.1930-13T>A) c.1861-13T>A (n.1861-13T>A) | ClinVar gnomAD v4 |
| 6 | g.33171834T>A | CA2678231639 | COL11A2 | c.3043-14A>T (n.3043-14A>T) c.2722-14A>T (n.2722-14A>T) c.2785-14A>T (n.2785-14A>T) n.272+5175A>T c.2197-14A>T (n.2197-14A>T) c.2329-14A>T (n.2329-14A>T) c.2149-14A>T (n.2149-14A>T) c.2086-14A>T (n.2086-14A>T) c.1930-14A>T (n.1930-14A>T) c.1861-14A>T (n.1861-14A>T) | gnomAD v4 |
| 6 | g.33171834T>C | CA2678231640 | COL11A2 | c.3043-14A>G (n.3043-14A>G) c.2722-14A>G (n.2722-14A>G) c.2785-14A>G (n.2785-14A>G) n.272+5175A>G c.2197-14A>G (n.2197-14A>G) c.2329-14A>G (n.2329-14A>G) c.2149-14A>G (n.2149-14A>G) c.2086-14A>G (n.2086-14A>G) c.1930-14A>G (n.1930-14A>G) c.1861-14A>G (n.1861-14A>G) | gnomAD v4 |
| 6 | g.33171836G>A | CA1619897228 | COL11A2 | c.3043-16C>T (n.3043-16C>T) c.2722-16C>T (n.2722-16C>T) c.2785-16C>T (n.2785-16C>T) n.272+5173C>T c.2197-16C>T (n.2197-16C>T) c.2329-16C>T (n.2329-16C>T) c.2149-16C>T (n.2149-16C>T) c.2086-16C>T (n.2086-16C>T) c.1930-16C>T (n.1930-16C>T) c.1861-16C>T (n.1861-16C>T) | dbSNP gnomAD v4 |
| 6 | g.33171836G>C | CA2678231643 | COL11A2 | c.3043-16C>G (n.3043-16C>G) c.2722-16C>G (n.2722-16C>G) c.2785-16C>G (n.2785-16C>G) n.272+5173C>G c.2197-16C>G (n.2197-16C>G) c.2329-16C>G (n.2329-16C>G) c.2149-16C>G (n.2149-16C>G) c.2086-16C>G (n.2086-16C>G) c.1930-16C>G (n.1930-16C>G) c.1861-16C>G (n.1861-16C>G) | gnomAD v4 |
| 6 | g.33171836G= | CA1619897227 | COL11A2 | c.3043-16C= (n.3043-16C=) c.2722-16C= (n.2722-16C=) c.2785-16C= (n.2785-16C=) n.272+5173C= c.2197-16C= (n.2197-16C=) c.2329-16C= (n.2329-16C=) c.2149-16C= (n.2149-16C=) c.2086-16C= (n.2086-16C=) c.1930-16C= (n.1930-16C=) c.1861-16C= (n.1861-16C=) | |
| 6 | g.33171837T>G | CA2770563824 | COL11A2 | c.3043-17A>C (n.3043-17A>C) c.2722-17A>C (n.2722-17A>C) c.2785-17A>C (n.2785-17A>C) n.272+5172A>C c.2197-17A>C (n.2197-17A>C) c.2329-17A>C (n.2329-17A>C) c.2149-17A>C (n.2149-17A>C) c.2086-17A>C (n.2086-17A>C) c.1930-17A>C (n.1930-17A>C) c.1861-17A>C (n.1861-17A>C) | |
| 6 | g.33171838C>A | CA2578581529 | COL11A2 | c.3043-18G>T (n.3043-18G>T) c.2722-18G>T (n.2722-18G>T) c.2785-18G>T (n.2785-18G>T) n.272+5171G>T c.2197-18G>T (n.2197-18G>T) c.2329-18G>T (n.2329-18G>T) c.2149-18G>T (n.2149-18G>T) c.2086-18G>T (n.2086-18G>T) c.1930-18G>T (n.1930-18G>T) c.1861-18G>T (n.1861-18G>T) | |
| 6 | g.33171842C>A | CA2678231651 | COL11A2 | c.3043-22G>T (n.3043-22G>T) c.2722-22G>T (n.2722-22G>T) c.2785-22G>T (n.2785-22G>T) n.272+5167G>T c.2197-22G>T (n.2197-22G>T) c.2329-22G>T (n.2329-22G>T) c.2149-22G>T (n.2149-22G>T) c.2086-22G>T (n.2086-22G>T) c.1930-22G>T (n.1930-22G>T) c.1861-22G>T (n.1861-22G>T) | gnomAD v4 |
| 6 | g.33171842C= | CA1619897229 | COL11A2 | c.3043-22G= (n.3043-22G=) c.2722-22G= (n.2722-22G=) c.2785-22G= (n.2785-22G=) n.272+5167G= c.2197-22G= (n.2197-22G=) c.2329-22G= (n.2329-22G=) c.2149-22G= (n.2149-22G=) c.2086-22G= (n.2086-22G=) c.1930-22G= (n.1930-22G=) c.1861-22G= (n.1861-22G=) | |
| 6 | g.33171842C>G | CA2578581530 | COL11A2 | c.3043-22G>C (n.3043-22G>C) c.2722-22G>C (n.2722-22G>C) c.2785-22G>C (n.2785-22G>C) n.272+5167G>C c.2197-22G>C (n.2197-22G>C) c.2329-22G>C (n.2329-22G>C) c.2149-22G>C (n.2149-22G>C) c.2086-22G>C (n.2086-22G>C) c.1930-22G>C (n.1930-22G>C) c.1861-22G>C (n.1861-22G>C) | gnomAD v4 |
| 6 | g.33171842C>T | CA137067561 | COL11A2 | c.3043-22G>A (n.3043-22G>A) c.2722-22G>A (n.2722-22G>A) c.2785-22G>A (n.2785-22G>A) n.272+5167G>A c.2197-22G>A (n.2197-22G>A) c.2329-22G>A (n.2329-22G>A) c.2149-22G>A (n.2149-22G>A) c.2086-22G>A (n.2086-22G>A) c.1930-22G>A (n.1930-22G>A) c.1861-22G>A (n.1861-22G>A) | dbSNP gnomAD v4 |
| 6 | g.33171846dup | CA2678231650 | COL11A2 | c.3043-22dup (n.3043-22dup) c.2722-22dup (n.2722-22dup) c.2785-22dup (n.2785-22dup) n.272+5167dup c.2197-22dup (n.2197-22dup) c.2329-22dup (n.2329-22dup) c.2149-22dup (n.2149-22dup) c.2086-22dup (n.2086-22dup) c.1930-22dup (n.1930-22dup) c.1861-22dup (n.1861-22dup) | gnomAD v4 |
| 6 | g.33171843C>A | CA566698821 | COL11A2 | c.3043-23G>T (n.3043-23G>T) c.2722-23G>T (n.2722-23G>T) c.2785-23G>T (n.2785-23G>T) n.272+5166G>T c.2197-23G>T (n.2197-23G>T) c.2329-23G>T (n.2329-23G>T) c.2149-23G>T (n.2149-23G>T) c.2086-23G>T (n.2086-23G>T) c.1930-23G>T (n.1930-23G>T) c.1861-23G>T (n.1861-23G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171843C= | CA1619897230 | COL11A2 | c.3043-23G= (n.3043-23G=) c.2722-23G= (n.2722-23G=) c.2785-23G= (n.2785-23G=) n.272+5166G= c.2197-23G= (n.2197-23G=) c.2329-23G= (n.2329-23G=) c.2149-23G= (n.2149-23G=) c.2086-23G= (n.2086-23G=) c.1930-23G= (n.1930-23G=) c.1861-23G= (n.1861-23G=) | |
| 6 | g.33171843C>T | CA1087641749 | COL11A2 | c.3043-23G>A (n.3043-23G>A) c.2722-23G>A (n.2722-23G>A) c.2785-23G>A (n.2785-23G>A) n.272+5166G>A c.2197-23G>A (n.2197-23G>A) c.2329-23G>A (n.2329-23G>A) c.2149-23G>A (n.2149-23G>A) c.2086-23G>A (n.2086-23G>A) c.1930-23G>A (n.1930-23G>A) c.1861-23G>A (n.1861-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171844C= | CA1619897231 | COL11A2 | c.3043-24G= (n.3043-24G=) c.2722-24G= (n.2722-24G=) c.2785-24G= (n.2785-24G=) n.272+5165G= c.2197-24G= (n.2197-24G=) c.2329-24G= (n.2329-24G=) c.2149-24G= (n.2149-24G=) c.2086-24G= (n.2086-24G=) c.1930-24G= (n.1930-24G=) c.1861-24G= (n.1861-24G=) | |
| 6 | g.33171844C>T | CA566698822 | COL11A2 | c.3043-24G>A (n.3043-24G>A) c.2722-24G>A (n.2722-24G>A) c.2785-24G>A (n.2785-24G>A) n.272+5165G>A c.2197-24G>A (n.2197-24G>A) c.2329-24G>A (n.2329-24G>A) c.2149-24G>A (n.2149-24G>A) c.2086-24G>A (n.2086-24G>A) c.1930-24G>A (n.1930-24G>A) c.1861-24G>A (n.1861-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171845C>A | CA2678231654 | COL11A2 | c.3043-25G>T (n.3043-25G>T) c.2722-25G>T (n.2722-25G>T) c.2785-25G>T (n.2785-25G>T) n.272+5164G>T c.2197-25G>T (n.2197-25G>T) c.2329-25G>T (n.2329-25G>T) c.2149-25G>T (n.2149-25G>T) c.2086-25G>T (n.2086-25G>T) c.1930-25G>T (n.1930-25G>T) c.1861-25G>T (n.1861-25G>T) | gnomAD v4 |
| 6 | g.33171846C= | CA1619897232 | COL11A2 | c.3043-26G= (n.3043-26G=) c.2722-26G= (n.2722-26G=) c.2785-26G= (n.2785-26G=) n.272+5163G= c.2197-26G= (n.2197-26G=) c.2329-26G= (n.2329-26G=) c.2149-26G= (n.2149-26G=) c.2086-26G= (n.2086-26G=) c.1930-26G= (n.1930-26G=) c.1861-26G= (n.1861-26G=) | |
| 6 | g.33171846C>T | CA566698823 | COL11A2 | c.3043-26G>A (n.3043-26G>A) c.2722-26G>A (n.2722-26G>A) c.2785-26G>A (n.2785-26G>A) n.272+5163G>A c.2197-26G>A (n.2197-26G>A) c.2329-26G>A (n.2329-26G>A) c.2149-26G>A (n.2149-26G>A) c.2086-26G>A (n.2086-26G>A) c.1930-26G>A (n.1930-26G>A) c.1861-26G>A (n.1861-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171848G>A | CA824018206 | COL11A2 | c.3043-28C>T (n.3043-28C>T) c.2722-28C>T (n.2722-28C>T) c.2785-28C>T (n.2785-28C>T) n.272+5161C>T c.2197-28C>T (n.2197-28C>T) c.2329-28C>T (n.2329-28C>T) c.2149-28C>T (n.2149-28C>T) c.2086-28C>T (n.2086-28C>T) c.1930-28C>T (n.1930-28C>T) c.1861-28C>T (n.1861-28C>T) | dbSNP |
| 6 | g.33171848G= | CA1619897233 | COL11A2 | c.3043-28C= (n.3043-28C=) c.2722-28C= (n.2722-28C=) c.2785-28C= (n.2785-28C=) n.272+5161C= c.2197-28C= (n.2197-28C=) c.2329-28C= (n.2329-28C=) c.2149-28C= (n.2149-28C=) c.2086-28C= (n.2086-28C=) c.1930-28C= (n.1930-28C=) c.1861-28C= (n.1861-28C=) | |
| 6 | g.33171848G>T | CA2678231660 | COL11A2 | c.3043-28C>A (n.3043-28C>A) c.2722-28C>A (n.2722-28C>A) c.2785-28C>A (n.2785-28C>A) n.272+5161C>A c.2197-28C>A (n.2197-28C>A) c.2329-28C>A (n.2329-28C>A) c.2149-28C>A (n.2149-28C>A) c.2086-28C>A (n.2086-28C>A) c.1930-28C>A (n.1930-28C>A) c.1861-28C>A (n.1861-28C>A) | gnomAD v4 |
| 6 | g.33171849del | CA2678231659 | COL11A2 | c.3043-28del (n.3043-28del) c.2722-28del (n.2722-28del) c.2785-28del (n.2785-28del) n.272+5161del c.2197-28del (n.2197-28del) c.2329-28del (n.2329-28del) c.2149-28del (n.2149-28del) c.2086-28del (n.2086-28del) c.1930-28del (n.1930-28del) c.1861-28del (n.1861-28del) | gnomAD v4 |
| 6 | g.33171849G>A | CA566698824 | COL11A2 | c.3043-29C>T (n.3043-29C>T) c.2722-29C>T (n.2722-29C>T) c.2785-29C>T (n.2785-29C>T) n.272+5160C>T c.2197-29C>T (n.2197-29C>T) c.2329-29C>T (n.2329-29C>T) c.2149-29C>T (n.2149-29C>T) c.2086-29C>T (n.2086-29C>T) c.1930-29C>T (n.1930-29C>T) c.1861-29C>T (n.1861-29C>T) | dbSNP gnomAD v2 |
| 6 | g.33171849G= | CA1619897234 | COL11A2 | c.3043-29C= (n.3043-29C=) c.2722-29C= (n.2722-29C=) c.2785-29C= (n.2785-29C=) n.272+5160C= c.2197-29C= (n.2197-29C=) c.2329-29C= (n.2329-29C=) c.2149-29C= (n.2149-29C=) c.2086-29C= (n.2086-29C=) c.1930-29C= (n.1930-29C=) c.1861-29C= (n.1861-29C=) | |
| 6 | g.33171849G>T | CA2578581531 | COL11A2 | c.3043-29C>A (n.3043-29C>A) c.2722-29C>A (n.2722-29C>A) c.2785-29C>A (n.2785-29C>A) n.272+5160C>A c.2197-29C>A (n.2197-29C>A) c.2329-29C>A (n.2329-29C>A) c.2149-29C>A (n.2149-29C>A) c.2086-29C>A (n.2086-29C>A) c.1930-29C>A (n.1930-29C>A) c.1861-29C>A (n.1861-29C>A) | gnomAD v4 |
| 6 | g.33171855G>A | CA566698825 | COL11A2 | c.3043-35C>T (n.3043-35C>T) c.2722-35C>T (n.2722-35C>T) c.2785-35C>T (n.2785-35C>T) n.272+5154C>T c.2197-35C>T (n.2197-35C>T) c.2329-35C>T (n.2329-35C>T) c.2149-35C>T (n.2149-35C>T) c.2086-35C>T (n.2086-35C>T) c.1930-35C>T (n.1930-35C>T) c.1861-35C>T (n.1861-35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171855G= | CA1619897235 | COL11A2 | c.3043-35C= (n.3043-35C=) c.2722-35C= (n.2722-35C=) c.2785-35C= (n.2785-35C=) n.272+5154C= c.2197-35C= (n.2197-35C=) c.2329-35C= (n.2329-35C=) c.2149-35C= (n.2149-35C=) c.2086-35C= (n.2086-35C=) c.1930-35C= (n.1930-35C=) c.1861-35C= (n.1861-35C=) | |
| 6 | g.33171855G>T | CA2678231670 | COL11A2 | c.3043-35C>A (n.3043-35C>A) c.2722-35C>A (n.2722-35C>A) c.2785-35C>A (n.2785-35C>A) n.272+5154C>A c.2197-35C>A (n.2197-35C>A) c.2329-35C>A (n.2329-35C>A) c.2149-35C>A (n.2149-35C>A) c.2086-35C>A (n.2086-35C>A) c.1930-35C>A (n.1930-35C>A) c.1861-35C>A (n.1861-35C>A) | gnomAD v4 |
| 6 | g.33171857C>A | CA2678231673 | COL11A2 | c.3043-37G>T (n.3043-37G>T) c.2722-37G>T (n.2722-37G>T) c.2785-37G>T (n.2785-37G>T) n.272+5152G>T c.2197-37G>T (n.2197-37G>T) c.2329-37G>T (n.2329-37G>T) c.2149-37G>T (n.2149-37G>T) c.2086-37G>T (n.2086-37G>T) c.1930-37G>T (n.1930-37G>T) c.1861-37G>T (n.1861-37G>T) | gnomAD v4 |
| 6 | g.33171858A= | CA1619897236 | COL11A2 | c.3043-38T= (n.3043-38T=) c.2722-38T= (n.2722-38T=) c.2785-38T= (n.2785-38T=) n.272+5151T= c.2197-38T= (n.2197-38T=) c.2329-38T= (n.2329-38T=) c.2149-38T= (n.2149-38T=) c.2086-38T= (n.2086-38T=) c.1930-38T= (n.1930-38T=) c.1861-38T= (n.1861-38T=) | |
| 6 | g.33171858A>C | CA3750651 | COL11A2 | c.3043-38T>G (n.3043-38T>G) c.2722-38T>G (n.2722-38T>G) c.2785-38T>G (n.2785-38T>G) n.272+5151T>G c.2197-38T>G (n.2197-38T>G) c.2329-38T>G (n.2329-38T>G) c.2149-38T>G (n.2149-38T>G) c.2086-38T>G (n.2086-38T>G) c.1930-38T>G (n.1930-38T>G) c.1861-38T>G (n.1861-38T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33171859C>A | CA566698826 | COL11A2 | c.3043-39G>T (n.3043-39G>T) c.2722-39G>T (n.2722-39G>T) c.2785-39G>T (n.2785-39G>T) n.272+5150G>T c.2197-39G>T (n.2197-39G>T) c.2329-39G>T (n.2329-39G>T) c.2149-39G>T (n.2149-39G>T) c.2086-39G>T (n.2086-39G>T) c.1930-39G>T (n.1930-39G>T) c.1861-39G>T (n.1861-39G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33171859C= | CA1619897237 | COL11A2 | c.3043-39G= (n.3043-39G=) c.2722-39G= (n.2722-39G=) c.2785-39G= (n.2785-39G=) n.272+5150G= c.2197-39G= (n.2197-39G=) c.2329-39G= (n.2329-39G=) c.2149-39G= (n.2149-39G=) c.2086-39G= (n.2086-39G=) c.1930-39G= (n.1930-39G=) c.1861-39G= (n.1861-39G=) | |
| 6 | g.33171859C>T | CA137067566 | COL11A2 | c.3043-39G>A (n.3043-39G>A) c.2722-39G>A (n.2722-39G>A) c.2785-39G>A (n.2785-39G>A) n.272+5150G>A c.2197-39G>A (n.2197-39G>A) c.2329-39G>A (n.2329-39G>A) c.2149-39G>A (n.2149-39G>A) c.2086-39G>A (n.2086-39G>A) c.1930-39G>A (n.1930-39G>A) c.1861-39G>A (n.1861-39G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33171860del | CA2678231680 | COL11A2 | c.3043-39del (n.3043-39del) c.2722-39del (n.2722-39del) c.2785-39del (n.2785-39del) n.272+5150del c.2197-39del (n.2197-39del) c.2329-39del (n.2329-39del) c.2149-39del (n.2149-39del) c.2086-39del (n.2086-39del) c.1930-39del (n.1930-39del) c.1861-39del (n.1861-39del) | gnomAD v4 |
| 6 | g.33171861_33171862insAAGG | CA2678231686 | COL11A2 | c.3043-42_3043-41insCCTT (n.3043-42_3043-41insCCTT) c.2722-42_2722-41insCCTT (n.2722-42_2722-41insCCTT) c.2785-42_2785-41insCCTT (n.2785-42_2785-41insCCTT) n.272+5147_272+5148insCCTT c.2197-42_2197-41insCCTT (n.2197-42_2197-41insCCTT) c.2329-42_2329-41insCCTT (n.2329-42_2329-41insCCTT) c.2149-42_2149-41insCCTT (n.2149-42_2149-41insCCTT) c.2086-42_2086-41insCCTT (n.2086-42_2086-41insCCTT) c.1930-42_1930-41insCCTT (n.1930-42_1930-41insCCTT) c.1861-42_1861-41insCCTT (n.1861-42_1861-41insCCTT) | gnomAD v4 |
| 6 | g.33171862G= | CA1619897238 | COL11A2 | c.3043-42C= (n.3043-42C=) c.2722-42C= (n.2722-42C=) c.2785-42C= (n.2785-42C=) n.272+5147C= c.2197-42C= (n.2197-42C=) c.2329-42C= (n.2329-42C=) c.2149-42C= (n.2149-42C=) c.2086-42C= (n.2086-42C=) c.1930-42C= (n.1930-42C=) c.1861-42C= (n.1861-42C=) | |
| 6 | g.33171862G>T | CA1619897239 | COL11A2 | c.3043-42C>A (n.3043-42C>A) c.2722-42C>A (n.2722-42C>A) c.2785-42C>A (n.2785-42C>A) n.272+5147C>A c.2197-42C>A (n.2197-42C>A) c.2329-42C>A (n.2329-42C>A) c.2149-42C>A (n.2149-42C>A) c.2086-42C>A (n.2086-42C>A) c.1930-42C>A (n.1930-42C>A) c.1861-42C>A (n.1861-42C>A) | dbSNP gnomAD v4 |
| 6 | g.33171862_33171863del | CA2678231685 | COL11A2 | c.3043-43_3043-42del (n.3043-43_3043-42del) c.2722-43_2722-42del (n.2722-43_2722-42del) c.2785-43_2785-42del (n.2785-43_2785-42del) n.272+5146_272+5147del c.2197-43_2197-42del (n.2197-43_2197-42del) c.2329-43_2329-42del (n.2329-43_2329-42del) c.2149-43_2149-42del (n.2149-43_2149-42del) c.2086-43_2086-42del (n.2086-43_2086-42del) c.1930-43_1930-42del (n.1930-43_1930-42del) c.1861-43_1861-42del (n.1861-43_1861-42del) | gnomAD v4 |
| 6 | g.33171863C>A | CA2678231690 | COL11A2 | c.3043-43G>T (n.3043-43G>T) c.2722-43G>T (n.2722-43G>T) c.2785-43G>T (n.2785-43G>T) n.272+5146G>T c.2197-43G>T (n.2197-43G>T) c.2329-43G>T (n.2329-43G>T) c.2149-43G>T (n.2149-43G>T) c.2086-43G>T (n.2086-43G>T) c.1930-43G>T (n.1930-43G>T) c.1861-43G>T (n.1861-43G>T) | gnomAD v4 |
| 6 | g.33171863C= | CA1619897240 | COL11A2 | c.3043-43G= (n.3043-43G=) c.2722-43G= (n.2722-43G=) c.2785-43G= (n.2785-43G=) n.272+5146G= c.2197-43G= (n.2197-43G=) c.2329-43G= (n.2329-43G=) c.2149-43G= (n.2149-43G=) c.2086-43G= (n.2086-43G=) c.1930-43G= (n.1930-43G=) c.1861-43G= (n.1861-43G=) | |
| 6 | g.33171863C>T | CA566698827 | COL11A2 | c.3043-43G>A (n.3043-43G>A) c.2722-43G>A (n.2722-43G>A) c.2785-43G>A (n.2785-43G>A) n.272+5146G>A c.2197-43G>A (n.2197-43G>A) c.2329-43G>A (n.2329-43G>A) c.2149-43G>A (n.2149-43G>A) c.2086-43G>A (n.2086-43G>A) c.1930-43G>A (n.1930-43G>A) c.1861-43G>A (n.1861-43G>A) | dbSNP gnomAD v2 gnomAD v4 |