| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102998312G>A | CA974564 | COL11A1 | c.2194C>T (p.Pro732Ser) c.2077C>T (p.Pro693Ser) c.2230C>T (p.Pro744Ser) c.1846C>T (p.Pro616Ser) c.1512C>T c.427C>T (p.Pro143Ser) c.-235C>T (n.-235C>T) n.2592C>T n.2512C>T c.2347C>T (p.Pro783Ser) c.2341C>T (p.Pro781Ser) c.745C>T (p.Pro249Ser) n.2538C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102998312G>C | CA341170134 | COL11A1 | c.2194C>G (p.Pro732Ala) c.2077C>G (p.Pro693Ala) c.2230C>G (p.Pro744Ala) c.1846C>G (p.Pro616Ala) c.1512C>G c.427C>G (p.Pro143Ala) c.-235C>G (n.-235C>G) n.2592C>G n.2512C>G c.2347C>G (p.Pro783Ala) c.2341C>G (p.Pro781Ala) c.745C>G (p.Pro249Ala) n.2538C>G | |
| 1 | g.102998312G= | CA1144060808 | COL11A1 | c.2194C= (p.Pro732=) c.2077C= (p.Pro693=) c.2230C= (p.Pro744=) c.1846C= (p.Pro616=) c.1512C= c.427C= (p.Pro143=) c.-235C= (n.-235C=) n.2592C= n.2512C= c.2347C= (p.Pro783=) c.2341C= (p.Pro781=) c.745C= (p.Pro249=) n.2538C= | |
| 1 | g.102998312G>T | CA341170136 | COL11A1 | c.2194C>A (p.Pro732Thr) c.2077C>A (p.Pro693Thr) c.2230C>A (p.Pro744Thr) c.1846C>A (p.Pro616Thr) c.1512C>A c.427C>A (p.Pro143Thr) c.-235C>A (n.-235C>A) n.2592C>A n.2512C>A c.2347C>A (p.Pro783Thr) c.2341C>A (p.Pro781Thr) c.745C>A (p.Pro249Thr) n.2538C>A | |
| 1 | g.102998312_102998314delinsGAG | CA1148274286 | COL11A1 | c.2192_2194delinsCTC (p.Pro731=) c.2075_2077delinsCTC (p.Pro692=) c.2228_2230delinsCTC (p.Pro743=) c.1844_1846delinsCTC (p.Pro615=) c.1510_1512delinsCTC c.425_427delinsCTC (p.Pro142=) c.-237_-235delinsCTC (n.-237_-235delinsCTC) n.2590_2592delinsCTC n.2510_2512delinsCTC c.2345_2347delinsCTC (p.Pro782=) c.2339_2341delinsCTC (p.Pro780=) c.743_745delinsCTC (p.Pro248=) n.2536_2538delinsCTC | |
| 1 | g.102998313_102998314dup | CA974563 | COL11A1 | c.2193_2194dup (p.Pro732LeufsTer?) c.2076_2077dup (p.Pro693LeufsTer?) c.2229_2230dup (p.Pro744LeufsTer?) c.1845_1846dup (p.Pro616LeufsTer?) c.1511_1512dup c.426_427dup (p.Pro143LeufsTer?) c.-236_-235dup (n.-236_-235dup) n.2591_2592dup n.2511_2512dup c.2346_2347dup (p.Pro783LeufsTer?) c.2340_2341dup (p.Pro781LeufsTer?) c.744_745dup (p.Pro249LeufsTer?) n.2537_2538dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102998313A= | CA1185280365 | COL11A1 | c.2193T= (p.Pro731=) c.2076T= (p.Pro692=) c.2229T= (p.Pro743=) c.1845T= (p.Pro615=) c.1511T= c.426T= (p.Pro142=) c.-236T= (n.-236T=) n.2591T= n.2511T= c.2346T= (p.Pro782=) c.2340T= (p.Pro780=) c.744T= (p.Pro248=) n.2537T= | |
| 1 | g.102998313A>C | CA419205818 | COL11A1 | c.2193T>G (p.Pro731=) c.2076T>G (p.Pro692=) c.2229T>G (p.Pro743=) c.1845T>G (p.Pro615=) c.1511T>G c.426T>G (p.Pro142=) c.-236T>G (n.-236T>G) n.2591T>G n.2511T>G c.2346T>G (p.Pro782=) c.2340T>G (p.Pro780=) c.744T>G (p.Pro248=) n.2537T>G | |
| 1 | g.102998313A>G | CA974565 | COL11A1 | c.2193T>C (p.Pro731=) c.2076T>C (p.Pro692=) c.2229T>C (p.Pro743=) c.1845T>C (p.Pro615=) c.1511T>C c.426T>C (p.Pro142=) c.-236T>C (n.-236T>C) n.2591T>C n.2511T>C c.2346T>C (p.Pro782=) c.2340T>C (p.Pro780=) c.744T>C (p.Pro248=) n.2537T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102998313A>T | CA419205820 | COL11A1 | c.2193T>A (p.Pro731=) c.2076T>A (p.Pro692=) c.2229T>A (p.Pro743=) c.1845T>A (p.Pro615=) c.1511T>A c.426T>A (p.Pro142=) c.-236T>A (n.-236T>A) n.2591T>A n.2511T>A c.2346T>A (p.Pro782=) c.2340T>A (p.Pro780=) c.744T>A (p.Pro248=) n.2537T>A | |
| 1 | g.102998314G>A | CA341170139 | COL11A1 | c.2192C>T (p.Pro731Leu) c.2075C>T (p.Pro692Leu) c.2228C>T (p.Pro743Leu) c.1844C>T (p.Pro615Leu) c.1510C>T c.425C>T (p.Pro142Leu) c.-237C>T (n.-237C>T) n.2590C>T n.2510C>T c.2345C>T (p.Pro782Leu) c.2339C>T (p.Pro780Leu) c.743C>T (p.Pro248Leu) n.2536C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.102998314G>C | CA341170141 | COL11A1 | c.2192C>G (p.Pro731Arg) c.2075C>G (p.Pro692Arg) c.2228C>G (p.Pro743Arg) c.1844C>G (p.Pro615Arg) c.1510C>G c.425C>G (p.Pro142Arg) c.-237C>G (n.-237C>G) n.2590C>G n.2510C>G c.2345C>G (p.Pro782Arg) c.2339C>G (p.Pro780Arg) c.743C>G (p.Pro248Arg) n.2536C>G | |
| 1 | g.102998314G= | CA1185280366 | COL11A1 | c.2192C= (p.Pro731=) c.2075C= (p.Pro692=) c.2228C= (p.Pro743=) c.1844C= (p.Pro615=) c.1510C= c.425C= (p.Pro142=) c.-237C= (n.-237C=) n.2590C= n.2510C= c.2345C= (p.Pro782=) c.2339C= (p.Pro780=) c.743C= (p.Pro248=) n.2536C= | |
| 1 | g.102998314G>T | CA341170143 | COL11A1 | c.2192C>A (p.Pro731His) c.2075C>A (p.Pro692His) c.2228C>A (p.Pro743His) c.1844C>A (p.Pro615His) c.1510C>A c.425C>A (p.Pro142His) c.-237C>A (n.-237C>A) n.2590C>A n.2510C>A c.2345C>A (p.Pro782His) c.2339C>A (p.Pro780His) c.743C>A (p.Pro248His) n.2536C>A | gnomAD v4 |
| 1 | g.102998315G>A | CA974566 | COL11A1 | c.2191C>T (p.Pro731Ser) c.2074C>T (p.Pro692Ser) c.2227C>T (p.Pro743Ser) c.1843C>T (p.Pro615Ser) c.1509C>T c.424C>T (p.Pro142Ser) c.-238C>T (n.-238C>T) n.2589C>T n.2509C>T c.2344C>T (p.Pro782Ser) c.2338C>T (p.Pro780Ser) c.742C>T (p.Pro248Ser) n.2535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.102998315G>C | CA341170147 | COL11A1 | c.2191C>G (p.Pro731Ala) c.2074C>G (p.Pro692Ala) c.2227C>G (p.Pro743Ala) c.1843C>G (p.Pro615Ala) c.1509C>G c.424C>G (p.Pro142Ala) c.-238C>G (n.-238C>G) n.2589C>G n.2509C>G c.2344C>G (p.Pro782Ala) c.2338C>G (p.Pro780Ala) c.742C>G (p.Pro248Ala) n.2535C>G | |
| 1 | g.102998315G= | CA1185280367 | COL11A1 | c.2191C= (p.Pro731=) c.2074C= (p.Pro692=) c.2227C= (p.Pro743=) c.1843C= (p.Pro615=) c.1509C= c.424C= (p.Pro142=) c.-238C= (n.-238C=) n.2589C= n.2509C= c.2344C= (p.Pro782=) c.2338C= (p.Pro780=) c.742C= (p.Pro248=) n.2535C= | |
| 1 | g.102998315G>T | CA341170148 | COL11A1 | c.2191C>A (p.Pro731Thr) c.2074C>A (p.Pro692Thr) c.2227C>A (p.Pro743Thr) c.1843C>A (p.Pro615Thr) c.1509C>A c.424C>A (p.Pro142Thr) c.-238C>A (n.-238C>A) n.2589C>A n.2509C>A c.2344C>A (p.Pro782Thr) c.2338C>A (p.Pro780Thr) c.742C>A (p.Pro248Thr) n.2535C>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.102998316C>A | CA419205826 | COL11A1 | c.2190G>T (p.Gly730=) c.2073G>T (p.Gly691=) c.2226G>T (p.Gly742=) c.1842G>T (p.Gly614=) c.1508G>T c.423G>T (p.Gly141=) c.-239G>T (n.-239G>T) n.2588G>T n.2508G>T c.2343G>T (p.Gly781=) c.2337G>T (p.Gly779=) c.741G>T (p.Gly247=) n.2534G>T | gnomAD v4 |
| 1 | g.102998316C>G | CA419205824 | COL11A1 | c.2190G>C (p.Gly730=) c.2073G>C (p.Gly691=) c.2226G>C (p.Gly742=) c.1842G>C (p.Gly614=) c.1508G>C c.423G>C (p.Gly141=) c.-239G>C (n.-239G>C) n.2588G>C n.2508G>C c.2343G>C (p.Gly781=) c.2337G>C (p.Gly779=) c.741G>C (p.Gly247=) n.2534G>C | |
| 1 | g.102998316C>T | CA419205825 | COL11A1 | c.2190G>A (p.Gly730=) c.2073G>A (p.Gly691=) c.2226G>A (p.Gly742=) c.1842G>A (p.Gly614=) c.1508G>A c.423G>A (p.Gly141=) c.-239G>A (n.-239G>A) n.2588G>A n.2508G>A c.2343G>A (p.Gly781=) c.2337G>A (p.Gly779=) c.741G>A (p.Gly247=) n.2534G>A | |
| 1 | g.102998317C>A | CA341170150 | COL11A1 | c.2189G>T (p.Gly730Val) c.2072G>T (p.Gly691Val) c.2225G>T (p.Gly742Val) c.1841G>T (p.Gly614Val) c.1507G>T c.422G>T (p.Gly141Val) c.-240G>T (n.-240G>T) n.2587G>T n.2507G>T c.2342G>T (p.Gly781Val) c.2336G>T (p.Gly779Val) c.740G>T (p.Gly247Val) n.2533G>T | |
| 1 | g.102998317C>G | CA341170153 | COL11A1 | c.2189G>C (p.Gly730Ala) c.2072G>C (p.Gly691Ala) c.2225G>C (p.Gly742Ala) c.1841G>C (p.Gly614Ala) c.1507G>C c.422G>C (p.Gly141Ala) c.-240G>C (n.-240G>C) n.2587G>C n.2507G>C c.2342G>C (p.Gly781Ala) c.2336G>C (p.Gly779Ala) c.740G>C (p.Gly247Ala) n.2533G>C | gnomAD v4 |
| 1 | g.102998317C>T | CA341170152 | COL11A1 | c.2189G>A (p.Gly730Glu) c.2072G>A (p.Gly691Glu) c.2225G>A (p.Gly742Glu) c.1841G>A (p.Gly614Glu) c.1507G>A c.422G>A (p.Gly141Glu) c.-240G>A (n.-240G>A) n.2587G>A n.2507G>A c.2342G>A (p.Gly781Glu) c.2336G>A (p.Gly779Glu) c.740G>A (p.Gly247Glu) n.2533G>A | |
| 1 | g.102998318C>A | CA341170157 | COL11A1 | c.2188G>T (p.Gly730Trp) c.2071G>T (p.Gly691Trp) c.2224G>T (p.Gly742Trp) c.1840G>T (p.Gly614Trp) c.1506G>T c.421G>T (p.Gly141Trp) c.-241G>T (n.-241G>T) n.2586G>T n.2506G>T c.2341G>T (p.Gly781Trp) c.2335G>T (p.Gly779Trp) c.739G>T (p.Gly247Trp) n.2532G>T | |
| 1 | g.102998318C>G | CA341170160 | COL11A1 | c.2188G>C (p.Gly730Arg) c.2071G>C (p.Gly691Arg) c.2224G>C (p.Gly742Arg) c.1840G>C (p.Gly614Arg) c.1506G>C c.421G>C (p.Gly141Arg) c.-241G>C (n.-241G>C) n.2586G>C n.2506G>C c.2341G>C (p.Gly781Arg) c.2335G>C (p.Gly779Arg) c.739G>C (p.Gly247Arg) n.2532G>C | |
| 1 | g.102998318C>T | CA341170161 | COL11A1 | c.2188G>A (p.Gly730Arg) c.2071G>A (p.Gly691Arg) c.2224G>A (p.Gly742Arg) c.1840G>A (p.Gly614Arg) c.1506G>A c.421G>A (p.Gly141Arg) c.-241G>A (n.-241G>A) n.2586G>A n.2506G>A c.2341G>A (p.Gly781Arg) c.2335G>A (p.Gly779Arg) c.739G>A (p.Gly247Arg) n.2532G>A | gnomAD v4 |
| 1 | g.102998319A= | CA1185280368 | COL11A1 | c.2187T= (p.Asp729=) c.2070T= (p.Asp690=) c.2223T= (p.Asp741=) c.1839T= (p.Asp613=) c.1505T= c.420T= (p.Asp140=) c.-242T= (n.-242T=) n.2585T= n.2505T= c.2340T= (p.Asp780=) c.2334T= (p.Asp778=) c.738T= (p.Asp246=) n.2531T= | |
| 1 | g.102998319A>C | CA341170163 | COL11A1 | c.2187T>G (p.Asp729Glu) c.2070T>G (p.Asp690Glu) c.2223T>G (p.Asp741Glu) c.1839T>G (p.Asp613Glu) c.1505T>G c.420T>G (p.Asp140Glu) c.-242T>G (n.-242T>G) n.2585T>G n.2505T>G c.2340T>G (p.Asp780Glu) c.2334T>G (p.Asp778Glu) c.738T>G (p.Asp246Glu) n.2531T>G | |
| 1 | g.102998319A>G | CA419205830 | COL11A1 | c.2187T>C (p.Asp729=) c.2070T>C (p.Asp690=) c.2223T>C (p.Asp741=) c.1839T>C (p.Asp613=) c.1505T>C c.420T>C (p.Asp140=) c.-242T>C (n.-242T>C) n.2585T>C n.2505T>C c.2340T>C (p.Asp780=) c.2334T>C (p.Asp778=) c.738T>C (p.Asp246=) n.2531T>C | |
| 1 | g.102998319A>T | CA974567 | COL11A1 | c.2187T>A (p.Asp729Glu) c.2070T>A (p.Asp690Glu) c.2223T>A (p.Asp741Glu) c.1839T>A (p.Asp613Glu) c.1505T>A c.420T>A (p.Asp140Glu) c.-242T>A (n.-242T>A) n.2585T>A n.2505T>A c.2340T>A (p.Asp780Glu) c.2334T>A (p.Asp778Glu) c.738T>A (p.Asp246Glu) n.2531T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.102998320T>A | CA341170166 | COL11A1 | c.2186A>T (p.Asp729Val) c.2069A>T (p.Asp690Val) c.2222A>T (p.Asp741Val) c.1838A>T (p.Asp613Val) c.1504A>T c.419A>T (p.Asp140Val) c.-243A>T (n.-243A>T) n.2584A>T n.2504A>T c.2339A>T (p.Asp780Val) c.2333A>T (p.Asp778Val) c.737A>T (p.Asp246Val) n.2530A>T | |
| 1 | g.102998320T>C | CA341170167 | COL11A1 | c.2186A>G (p.Asp729Gly) c.2069A>G (p.Asp690Gly) c.2222A>G (p.Asp741Gly) c.1838A>G (p.Asp613Gly) c.1504A>G c.419A>G (p.Asp140Gly) c.-243A>G (n.-243A>G) n.2584A>G n.2504A>G c.2339A>G (p.Asp780Gly) c.2333A>G (p.Asp778Gly) c.737A>G (p.Asp246Gly) n.2530A>G | |
| 1 | g.102998320T>G | CA341170169 | COL11A1 | c.2186A>C (p.Asp729Ala) c.2069A>C (p.Asp690Ala) c.2222A>C (p.Asp741Ala) c.1838A>C (p.Asp613Ala) c.1504A>C c.419A>C (p.Asp140Ala) c.-243A>C (n.-243A>C) n.2584A>C n.2504A>C c.2339A>C (p.Asp780Ala) c.2333A>C (p.Asp778Ala) c.737A>C (p.Asp246Ala) n.2530A>C | |
| 1 | g.102998321C>A | CA341170172 | COL11A1 | c.2185G>T (p.Asp729Tyr) c.2068G>T (p.Asp690Tyr) c.2221G>T (p.Asp741Tyr) c.1837G>T (p.Asp613Tyr) c.1503G>T c.418G>T (p.Asp140Tyr) c.-244G>T (n.-244G>T) n.2583G>T n.2503G>T c.2338G>T (p.Asp780Tyr) c.2332G>T (p.Asp778Tyr) c.736G>T (p.Asp246Tyr) n.2529G>T | |
| 1 | g.102998321C>G | CA341170173 | COL11A1 | c.2185G>C (p.Asp729His) c.2068G>C (p.Asp690His) c.2221G>C (p.Asp741His) c.1837G>C (p.Asp613His) c.1503G>C c.418G>C (p.Asp140His) c.-244G>C (n.-244G>C) n.2583G>C n.2503G>C c.2338G>C (p.Asp780His) c.2332G>C (p.Asp778His) c.736G>C (p.Asp246His) n.2529G>C | |
| 1 | g.102998321C>T | CA341170175 | COL11A1 | c.2185G>A (p.Asp729Asn) c.2068G>A (p.Asp690Asn) c.2221G>A (p.Asp741Asn) c.1837G>A (p.Asp613Asn) c.1503G>A c.418G>A (p.Asp140Asn) c.-244G>A (n.-244G>A) n.2583G>A n.2503G>A c.2338G>A (p.Asp780Asn) c.2332G>A (p.Asp778Asn) c.736G>A (p.Asp246Asn) n.2529G>A | |
| 1 | g.102998322A>C | CA419205835 | COL11A1 | c.2184T>G (p.Ala728=) c.2067T>G (p.Ala689=) c.2220T>G (p.Ala740=) c.1836T>G (p.Ala612=) c.1502T>G c.417T>G (p.Ala139=) c.-245T>G (n.-245T>G) n.2582T>G n.2502T>G c.2337T>G (p.Ala779=) c.2331T>G (p.Ala777=) c.735T>G (p.Ala245=) n.2528T>G | |
| 1 | g.102998322A>G | CA419205836 | COL11A1 | c.2184T>C (p.Ala728=) c.2067T>C (p.Ala689=) c.2220T>C (p.Ala740=) c.1836T>C (p.Ala612=) c.1502T>C c.417T>C (p.Ala139=) c.-245T>C (n.-245T>C) n.2582T>C n.2502T>C c.2337T>C (p.Ala779=) c.2331T>C (p.Ala777=) c.735T>C (p.Ala245=) n.2528T>C | |
| 1 | g.102998322A>T | CA419205837 | COL11A1 | c.2184T>A (p.Ala728=) c.2067T>A (p.Ala689=) c.2220T>A (p.Ala740=) c.1836T>A (p.Ala612=) c.1502T>A c.417T>A (p.Ala139=) c.-245T>A (n.-245T>A) n.2582T>A n.2502T>A c.2337T>A (p.Ala779=) c.2331T>A (p.Ala777=) c.735T>A (p.Ala245=) n.2528T>A | |
| 1 | g.102998323G>A | CA341170179 | COL11A1 | c.2183C>T (p.Ala728Val) c.2066C>T (p.Ala689Val) c.2219C>T (p.Ala740Val) c.1835C>T (p.Ala612Val) c.1501C>T c.416C>T (p.Ala139Val) c.-246C>T (n.-246C>T) n.2581C>T n.2501C>T c.2336C>T (p.Ala779Val) c.2330C>T (p.Ala777Val) c.734C>T (p.Ala245Val) n.2527C>T | gnomAD v4 |
| 1 | g.102998323G>C | CA341170181 | COL11A1 | c.2183C>G (p.Ala728Gly) c.2066C>G (p.Ala689Gly) c.2219C>G (p.Ala740Gly) c.1835C>G (p.Ala612Gly) c.1501C>G c.416C>G (p.Ala139Gly) c.-246C>G (n.-246C>G) n.2581C>G n.2501C>G c.2336C>G (p.Ala779Gly) c.2330C>G (p.Ala777Gly) c.734C>G (p.Ala245Gly) n.2527C>G | |
| 1 | g.102998323G>T | CA341170177 | COL11A1 | c.2183C>A (p.Ala728Asp) c.2066C>A (p.Ala689Asp) c.2219C>A (p.Ala740Asp) c.1835C>A (p.Ala612Asp) c.1501C>A c.416C>A (p.Ala139Asp) c.-246C>A (n.-246C>A) n.2581C>A n.2501C>A c.2336C>A (p.Ala779Asp) c.2330C>A (p.Ala777Asp) c.734C>A (p.Ala245Asp) n.2527C>A | gnomAD v4 |
| 1 | g.102998324C>A | CA341170185 | COL11A1 | c.2182G>T (p.Ala728Ser) c.2065G>T (p.Ala689Ser) c.2218G>T (p.Ala740Ser) c.1834G>T (p.Ala612Ser) c.1500G>T c.415G>T (p.Ala139Ser) c.-247G>T (n.-247G>T) n.2580G>T n.2500G>T c.2335G>T (p.Ala779Ser) c.2329G>T (p.Ala777Ser) c.733G>T (p.Ala245Ser) n.2526G>T | COSMIC COSMIC |
| 1 | g.102998324C>G | CA341170183 | COL11A1 | c.2182G>C (p.Ala728Pro) c.2065G>C (p.Ala689Pro) c.2218G>C (p.Ala740Pro) c.1834G>C (p.Ala612Pro) c.1500G>C c.415G>C (p.Ala139Pro) c.-247G>C (n.-247G>C) n.2580G>C n.2500G>C c.2335G>C (p.Ala779Pro) c.2329G>C (p.Ala777Pro) c.733G>C (p.Ala245Pro) n.2526G>C | |
| 1 | g.102998324C>T | CA341170186 | COL11A1 | c.2182G>A (p.Ala728Thr) c.2065G>A (p.Ala689Thr) c.2218G>A (p.Ala740Thr) c.1834G>A (p.Ala612Thr) c.1500G>A c.415G>A (p.Ala139Thr) c.-247G>A (n.-247G>A) n.2580G>A n.2500G>A c.2335G>A (p.Ala779Thr) c.2329G>A (p.Ala777Thr) c.733G>A (p.Ala245Thr) n.2526G>A | |
| 1 | g.102998325A>C | CA419205844 | COL11A1 | c.2181T>G (p.Gly727=) c.2064T>G (p.Gly688=) c.2217T>G (p.Gly739=) c.1833T>G (p.Gly611=) c.1499T>G c.414T>G (p.Gly138=) c.-248T>G (n.-248T>G) n.2579T>G n.2499T>G c.2334T>G (p.Gly778=) c.2328T>G (p.Gly776=) c.732T>G (p.Gly244=) n.2525T>G | gnomAD v4 |
| 1 | g.102998325A>G | CA419205841 | COL11A1 | c.2181T>C (p.Gly727=) c.2064T>C (p.Gly688=) c.2217T>C (p.Gly739=) c.1833T>C (p.Gly611=) c.1499T>C c.414T>C (p.Gly138=) c.-248T>C (n.-248T>C) n.2579T>C n.2499T>C c.2334T>C (p.Gly778=) c.2328T>C (p.Gly776=) c.732T>C (p.Gly244=) n.2525T>C | |
| 1 | g.102998325A>T | CA419205842 | COL11A1 | c.2181T>A (p.Gly727=) c.2064T>A (p.Gly688=) c.2217T>A (p.Gly739=) c.1833T>A (p.Gly611=) c.1499T>A c.414T>A (p.Gly138=) c.-248T>A (n.-248T>A) n.2579T>A n.2499T>A c.2334T>A (p.Gly778=) c.2328T>A (p.Gly776=) c.732T>A (p.Gly244=) n.2525T>A | |
| 1 | g.102998326C>A | CA341170188 | COL11A1 | c.2180G>T (p.Gly727Val) c.2063G>T (p.Gly688Val) c.2216G>T (p.Gly739Val) c.1832G>T (p.Gly611Val) c.1498G>T c.413G>T (p.Gly138Val) c.-249G>T (n.-249G>T) n.2578G>T n.2498G>T c.2333G>T (p.Gly778Val) c.2327G>T (p.Gly776Val) c.731G>T (p.Gly244Val) n.2524G>T |