OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33178143G>A | CA363656286 | COL11A2 | c.445+165C>T c.1861C>T (p.Pro621Ser) c.1540C>T (p.Pro514Ser) c.1603C>T (p.Pro535Ser) c.1015C>T (p.Pro339Ser) c.1147C>T (p.Pro383Ser) c.967C>T (p.Pro323Ser) c.904C>T (p.Pro302Ser) c.748C>T (p.Pro250Ser) c.679C>T (p.Pro227Ser) | |
| 6 | g.33178143G>C | CA363656287 | COL11A2 | c.445+165C>G c.1861C>G (p.Pro621Ala) c.1540C>G (p.Pro514Ala) c.1603C>G (p.Pro535Ala) c.1015C>G (p.Pro339Ala) c.1147C>G (p.Pro383Ala) c.967C>G (p.Pro323Ala) c.904C>G (p.Pro302Ala) c.748C>G (p.Pro250Ala) c.679C>G (p.Pro227Ala) | |
| 6 | g.33178143G= | CA1619899919 | COL11A2 | c.445+165C= c.1861C= (p.Pro621=) c.1540C= (p.Pro514=) c.1603C= (p.Pro535=) c.1015C= (p.Pro339=) c.1147C= (p.Pro383=) c.967C= (p.Pro323=) c.904C= (p.Pro302=) c.748C= (p.Pro250=) c.679C= (p.Pro227=) | |
| 6 | g.33178143G>T | CA212599 | COL11A2 | c.445+165C>A c.1861C>A (p.Pro621Thr) c.1540C>A (p.Pro514Thr) c.1603C>A (p.Pro535Thr) c.1015C>A (p.Pro339Thr) c.1147C>A (p.Pro383Thr) c.967C>A (p.Pro323Thr) c.904C>A (p.Pro302Thr) c.748C>A (p.Pro250Thr) c.679C>A (p.Pro227Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33178144A>C | CA363656301 | COL11A2 | c.445+164T>G c.1860T>G (p.Ile620Met) c.1539T>G (p.Ile513Met) c.1602T>G (p.Ile534Met) c.1014T>G (p.Ile338Met) c.1146T>G (p.Ile382Met) c.966T>G (p.Ile322Met) c.903T>G (p.Ile301Met) c.747T>G (p.Ile249Met) c.678T>G (p.Ile226Met) | |
| 6 | g.33178144A>G | CA449885319 | COL11A2 | c.445+164T>C c.1860T>C (p.Ile620=) c.1539T>C (p.Ile513=) c.1602T>C (p.Ile534=) c.1014T>C (p.Ile338=) c.1146T>C (p.Ile382=) c.966T>C (p.Ile322=) c.903T>C (p.Ile301=) c.747T>C (p.Ile249=) c.678T>C (p.Ile226=) | gnomAD v4 |
| 6 | g.33178144A>T | CA449885317 | COL11A2 | c.445+164T>A c.1860T>A (p.Ile620=) c.1539T>A (p.Ile513=) c.1602T>A (p.Ile534=) c.1014T>A (p.Ile338=) c.1146T>A (p.Ile382=) c.966T>A (p.Ile322=) c.903T>A (p.Ile301=) c.747T>A (p.Ile249=) c.678T>A (p.Ile226=) | |
| 6 | g.33178145A>C | CA363656322 | COL11A2 | c.445+163T>G c.1859T>G (p.Ile620Ser) c.1538T>G (p.Ile513Ser) c.1601T>G (p.Ile534Ser) c.1013T>G (p.Ile338Ser) c.1145T>G (p.Ile382Ser) c.965T>G (p.Ile322Ser) c.902T>G (p.Ile301Ser) c.746T>G (p.Ile249Ser) c.677T>G (p.Ile226Ser) | |
| 6 | g.33178145A>G | CA363656307 | COL11A2 | c.445+163T>C c.1859T>C (p.Ile620Thr) c.1538T>C (p.Ile513Thr) c.1601T>C (p.Ile534Thr) c.1013T>C (p.Ile338Thr) c.1145T>C (p.Ile382Thr) c.965T>C (p.Ile322Thr) c.902T>C (p.Ile301Thr) c.746T>C (p.Ile249Thr) c.677T>C (p.Ile226Thr) | |
| 6 | g.33178145A>T | CA363656313 | COL11A2 | c.445+163T>A c.1859T>A (p.Ile620Asn) c.1538T>A (p.Ile513Asn) c.1601T>A (p.Ile534Asn) c.1013T>A (p.Ile338Asn) c.1145T>A (p.Ile382Asn) c.965T>A (p.Ile322Asn) c.902T>A (p.Ile301Asn) c.746T>A (p.Ile249Asn) c.677T>A (p.Ile226Asn) | |
| 6 | g.33178146T>A | CA363656326 | COL11A2 | c.445+162A>T c.1858A>T (p.Ile620Phe) c.1537A>T (p.Ile513Phe) c.1600A>T (p.Ile534Phe) c.1012A>T (p.Ile338Phe) c.1144A>T (p.Ile382Phe) c.964A>T (p.Ile322Phe) c.901A>T (p.Ile301Phe) c.745A>T (p.Ile249Phe) c.676A>T (p.Ile226Phe) | |
| 6 | g.33178146T>C | CA363656327 | COL11A2 | c.445+162A>G c.1858A>G (p.Ile620Val) c.1537A>G (p.Ile513Val) c.1600A>G (p.Ile534Val) c.1012A>G (p.Ile338Val) c.1144A>G (p.Ile382Val) c.964A>G (p.Ile322Val) c.901A>G (p.Ile301Val) c.745A>G (p.Ile249Val) c.676A>G (p.Ile226Val) | |
| 6 | g.33178146T>G | CA363656329 | COL11A2 | c.445+162A>C c.1858A>C (p.Ile620Leu) c.1537A>C (p.Ile513Leu) c.1600A>C (p.Ile534Leu) c.1012A>C (p.Ile338Leu) c.1144A>C (p.Ile382Leu) c.964A>C (p.Ile322Leu) c.901A>C (p.Ile301Leu) c.745A>C (p.Ile249Leu) c.676A>C (p.Ile226Leu) | |
| 6 | g.33178147A>C | CA449885322 | COL11A2 | c.445+161T>G c.1857T>G (p.Gly619=) c.1536T>G (p.Gly512=) c.1599T>G (p.Gly533=) c.1011T>G (p.Gly337=) c.1143T>G (p.Gly381=) c.963T>G (p.Gly321=) c.900T>G (p.Gly300=) c.744T>G (p.Gly248=) c.675T>G (p.Gly225=) | |
| 6 | g.33178147A>G | CA449885321 | COL11A2 | c.445+161T>C c.1857T>C (p.Gly619=) c.1536T>C (p.Gly512=) c.1599T>C (p.Gly533=) c.1011T>C (p.Gly337=) c.1143T>C (p.Gly381=) c.963T>C (p.Gly321=) c.900T>C (p.Gly300=) c.744T>C (p.Gly248=) c.675T>C (p.Gly225=) | |
| 6 | g.33178147A>T | CA449885320 | COL11A2 | c.445+161T>A c.1857T>A (p.Gly619=) c.1536T>A (p.Gly512=) c.1599T>A (p.Gly533=) c.1011T>A (p.Gly337=) c.1143T>A (p.Gly381=) c.963T>A (p.Gly321=) c.900T>A (p.Gly300=) c.744T>A (p.Gly248=) c.675T>A (p.Gly225=) | |
| 6 | g.33178148C>A | CA363656335 | COL11A2 | c.445+160G>T c.1856G>T (p.Gly619Val) c.1535G>T (p.Gly512Val) c.1598G>T (p.Gly533Val) c.1010G>T (p.Gly337Val) c.1142G>T (p.Gly381Val) c.962G>T (p.Gly321Val) c.899G>T (p.Gly300Val) c.743G>T (p.Gly248Val) c.674G>T (p.Gly225Val) | |
| 6 | g.33178148C>G | CA363656338 | COL11A2 | c.445+160G>C c.1856G>C (p.Gly619Ala) c.1535G>C (p.Gly512Ala) c.1598G>C (p.Gly533Ala) c.1010G>C (p.Gly337Ala) c.1142G>C (p.Gly381Ala) c.962G>C (p.Gly321Ala) c.899G>C (p.Gly300Ala) c.743G>C (p.Gly248Ala) c.674G>C (p.Gly225Ala) | dbSNP |
| 6 | g.33178148C>T | CA363656341 | COL11A2 | c.445+160G>A c.1856G>A (p.Gly619Asp) c.1535G>A (p.Gly512Asp) c.1598G>A (p.Gly533Asp) c.1010G>A (p.Gly337Asp) c.1142G>A (p.Gly381Asp) c.962G>A (p.Gly321Asp) c.899G>A (p.Gly300Asp) c.743G>A (p.Gly248Asp) c.674G>A (p.Gly225Asp) | |
| 6 | g.33178149C>A | CA363656344 | COL11A2 | c.445+159G>T c.1855G>T (p.Gly619Cys) c.1534G>T (p.Gly512Cys) c.1597G>T (p.Gly533Cys) c.1009G>T (p.Gly337Cys) c.1141G>T (p.Gly381Cys) c.961G>T (p.Gly321Cys) c.898G>T (p.Gly300Cys) c.742G>T (p.Gly248Cys) c.673G>T (p.Gly225Cys) | |
| 6 | g.33178149C>G | CA363656349 | COL11A2 | c.445+159G>C c.1855G>C (p.Gly619Arg) c.1534G>C (p.Gly512Arg) c.1597G>C (p.Gly533Arg) c.1009G>C (p.Gly337Arg) c.1141G>C (p.Gly381Arg) c.961G>C (p.Gly321Arg) c.898G>C (p.Gly300Arg) c.742G>C (p.Gly248Arg) c.673G>C (p.Gly225Arg) | |
| 6 | g.33178149C>T | CA363656350 | COL11A2 | c.445+159G>A c.1855G>A (p.Gly619Ser) c.1534G>A (p.Gly512Ser) c.1597G>A (p.Gly533Ser) c.1009G>A (p.Gly337Ser) c.1141G>A (p.Gly381Ser) c.961G>A (p.Gly321Ser) c.898G>A (p.Gly300Ser) c.742G>A (p.Gly248Ser) c.673G>A (p.Gly225Ser) | |
| 6 | g.33178150A>C | CA449885325 | COL11A2 | c.445+158T>G c.1854T>G (p.Pro618=) c.1533T>G (p.Pro511=) c.1596T>G (p.Pro532=) c.1008T>G (p.Pro336=) c.1140T>G (p.Pro380=) c.960T>G (p.Pro320=) c.897T>G (p.Pro299=) c.741T>G (p.Pro247=) c.672T>G (p.Pro224=) | |
| 6 | g.33178150A>G | CA449885327 | COL11A2 | c.445+158T>C c.1854T>C (p.Pro618=) c.1533T>C (p.Pro511=) c.1596T>C (p.Pro532=) c.1008T>C (p.Pro336=) c.1140T>C (p.Pro380=) c.960T>C (p.Pro320=) c.897T>C (p.Pro299=) c.741T>C (p.Pro247=) c.672T>C (p.Pro224=) | |
| 6 | g.33178150A>T | CA449885326 | COL11A2 | c.445+158T>A c.1854T>A (p.Pro618=) c.1533T>A (p.Pro511=) c.1596T>A (p.Pro532=) c.1008T>A (p.Pro336=) c.1140T>A (p.Pro380=) c.960T>A (p.Pro320=) c.897T>A (p.Pro299=) c.741T>A (p.Pro247=) c.672T>A (p.Pro224=) | |
| 6 | g.33178151G>A | CA363656363 | COL11A2 | c.445+157C>T c.1853C>T (p.Pro618Leu) c.1532C>T (p.Pro511Leu) c.1595C>T (p.Pro532Leu) c.1007C>T (p.Pro336Leu) c.1139C>T (p.Pro380Leu) c.959C>T (p.Pro320Leu) c.896C>T (p.Pro299Leu) c.740C>T (p.Pro247Leu) c.671C>T (p.Pro224Leu) | gnomAD v4 |
| 6 | g.33178151G>C | CA363656358 | COL11A2 | c.445+157C>G c.1853C>G (p.Pro618Arg) c.1532C>G (p.Pro511Arg) c.1595C>G (p.Pro532Arg) c.1007C>G (p.Pro336Arg) c.1139C>G (p.Pro380Arg) c.959C>G (p.Pro320Arg) c.896C>G (p.Pro299Arg) c.740C>G (p.Pro247Arg) c.671C>G (p.Pro224Arg) | gnomAD v4 |
| 6 | g.33178151G>T | CA363656354 | COL11A2 | c.445+157C>A c.1853C>A (p.Pro618His) c.1532C>A (p.Pro511His) c.1595C>A (p.Pro532His) c.1007C>A (p.Pro336His) c.1139C>A (p.Pro380His) c.959C>A (p.Pro320His) c.896C>A (p.Pro299His) c.740C>A (p.Pro247His) c.671C>A (p.Pro224His) | |
| 6 | g.33178152G>A | CA363656364 | COL11A2 | c.445+156C>T c.1852C>T (p.Pro618Ser) c.1531C>T (p.Pro511Ser) c.1594C>T (p.Pro532Ser) c.1006C>T (p.Pro336Ser) c.1138C>T (p.Pro380Ser) c.958C>T (p.Pro320Ser) c.895C>T (p.Pro299Ser) c.739C>T (p.Pro247Ser) c.670C>T (p.Pro224Ser) | |
| 6 | g.33178152G>C | CA363656365 | COL11A2 | c.445+156C>G c.1852C>G (p.Pro618Ala) c.1531C>G (p.Pro511Ala) c.1594C>G (p.Pro532Ala) c.1006C>G (p.Pro336Ala) c.1138C>G (p.Pro380Ala) c.958C>G (p.Pro320Ala) c.895C>G (p.Pro299Ala) c.739C>G (p.Pro247Ala) c.670C>G (p.Pro224Ala) | |
| 6 | g.33178152G>T | CA363656366 | COL11A2 | c.445+156C>A c.1852C>A (p.Pro618Thr) c.1531C>A (p.Pro511Thr) c.1594C>A (p.Pro532Thr) c.1006C>A (p.Pro336Thr) c.1138C>A (p.Pro380Thr) c.958C>A (p.Pro320Thr) c.895C>A (p.Pro299Thr) c.739C>A (p.Pro247Thr) c.670C>A (p.Pro224Thr) | |
| 6 | g.33178153T>A | CA449885328 | COL11A2 | c.445+155A>T c.1851A>T (p.Pro617=) c.1530A>T (p.Pro510=) c.1593A>T (p.Pro531=) c.1005A>T (p.Pro335=) c.1137A>T (p.Pro379=) c.957A>T (p.Pro319=) c.894A>T (p.Pro298=) c.738A>T (p.Pro246=) c.669A>T (p.Pro223=) | gnomAD v4 |
| 6 | g.33178153T>C | CA137073190 | COL11A2 | c.445+155A>G c.1851A>G (p.Pro617=) c.1530A>G (p.Pro510=) c.1593A>G (p.Pro531=) c.1005A>G (p.Pro335=) c.1137A>G (p.Pro379=) c.957A>G (p.Pro319=) c.894A>G (p.Pro298=) c.738A>G (p.Pro246=) c.669A>G (p.Pro223=) | ClinVar dbSNP gnomAD v2 |
| 6 | g.33178153T>G | CA449885329 | COL11A2 | c.445+155A>C c.1851A>C (p.Pro617=) c.1530A>C (p.Pro510=) c.1593A>C (p.Pro531=) c.1005A>C (p.Pro335=) c.1137A>C (p.Pro379=) c.957A>C (p.Pro319=) c.894A>C (p.Pro298=) c.738A>C (p.Pro246=) c.669A>C (p.Pro223=) | |
| 6 | g.33178153T= | CA1619899920 | COL11A2 | c.445+155A= c.1851A= (p.Pro617=) c.1530A= (p.Pro510=) c.1593A= (p.Pro531=) c.1005A= (p.Pro335=) c.1137A= (p.Pro379=) c.957A= (p.Pro319=) c.894A= (p.Pro298=) c.738A= (p.Pro246=) c.669A= (p.Pro223=) | |
| 6 | g.33178154G>A | CA363656368 | COL11A2 | c.445+154C>T c.1850C>T (p.Pro617Leu) c.1529C>T (p.Pro510Leu) c.1592C>T (p.Pro531Leu) c.1004C>T (p.Pro335Leu) c.1136C>T (p.Pro379Leu) c.956C>T (p.Pro319Leu) c.893C>T (p.Pro298Leu) c.737C>T (p.Pro246Leu) c.668C>T (p.Pro223Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178154G>C | CA363656371 | COL11A2 | c.445+154C>G c.1850C>G (p.Pro617Arg) c.1529C>G (p.Pro510Arg) c.1592C>G (p.Pro531Arg) c.1004C>G (p.Pro335Arg) c.1136C>G (p.Pro379Arg) c.956C>G (p.Pro319Arg) c.893C>G (p.Pro298Arg) c.737C>G (p.Pro246Arg) c.668C>G (p.Pro223Arg) | |
| 6 | g.33178154G= | CA1619899921 | COL11A2 | c.445+154C= c.1850C= (p.Pro617=) c.1529C= (p.Pro510=) c.1592C= (p.Pro531=) c.1004C= (p.Pro335=) c.1136C= (p.Pro379=) c.956C= (p.Pro319=) c.893C= (p.Pro298=) c.737C= (p.Pro246=) c.668C= (p.Pro223=) | |
| 6 | g.33178154G>T | CA363656375 | COL11A2 | c.445+154C>A c.1850C>A (p.Pro617Gln) c.1529C>A (p.Pro510Gln) c.1592C>A (p.Pro531Gln) c.1004C>A (p.Pro335Gln) c.1136C>A (p.Pro379Gln) c.956C>A (p.Pro319Gln) c.893C>A (p.Pro298Gln) c.737C>A (p.Pro246Gln) c.668C>A (p.Pro223Gln) | |
| 6 | g.33178155G>A | CA363656379 | COL11A2 | c.445+153C>T c.1849C>T (p.Pro617Ser) c.1528C>T (p.Pro510Ser) c.1591C>T (p.Pro531Ser) c.1003C>T (p.Pro335Ser) c.1135C>T (p.Pro379Ser) c.955C>T (p.Pro319Ser) c.892C>T (p.Pro298Ser) c.736C>T (p.Pro246Ser) c.667C>T (p.Pro223Ser) | |
| 6 | g.33178155G>C | CA363656382 | COL11A2 | c.445+153C>G c.1849C>G (p.Pro617Ala) c.1528C>G (p.Pro510Ala) c.1591C>G (p.Pro531Ala) c.1003C>G (p.Pro335Ala) c.1135C>G (p.Pro379Ala) c.955C>G (p.Pro319Ala) c.892C>G (p.Pro298Ala) c.736C>G (p.Pro246Ala) c.667C>G (p.Pro223Ala) | |
| 6 | g.33178155G>T | CA363656387 | COL11A2 | c.445+153C>A c.1849C>A (p.Pro617Thr) c.1528C>A (p.Pro510Thr) c.1591C>A (p.Pro531Thr) c.1003C>A (p.Pro335Thr) c.1135C>A (p.Pro379Thr) c.955C>A (p.Pro319Thr) c.892C>A (p.Pro298Thr) c.736C>A (p.Pro246Thr) c.667C>A (p.Pro223Thr) | |
| 6 | g.33178156G>A | CA449885330 | COL11A2 | c.445+152C>T c.1848C>T (p.Gly616=) c.1527C>T (p.Gly509=) c.1590C>T (p.Gly530=) c.1002C>T (p.Gly334=) c.1134C>T (p.Gly378=) c.954C>T (p.Gly318=) c.891C>T (p.Gly297=) c.735C>T (p.Gly245=) c.666C>T (p.Gly222=) | dbSNP gnomAD v2 |
| 6 | g.33178156G>C | CA449885331 | COL11A2 | c.445+152C>G c.1848C>G (p.Gly616=) c.1527C>G (p.Gly509=) c.1590C>G (p.Gly530=) c.1002C>G (p.Gly334=) c.1134C>G (p.Gly378=) c.954C>G (p.Gly318=) c.891C>G (p.Gly297=) c.735C>G (p.Gly245=) c.666C>G (p.Gly222=) | |
| 6 | g.33178156G= | CA1619899922 | COL11A2 | c.445+152C= c.1848C= (p.Gly616=) c.1527C= (p.Gly509=) c.1590C= (p.Gly530=) c.1002C= (p.Gly334=) c.1134C= (p.Gly378=) c.954C= (p.Gly318=) c.891C= (p.Gly297=) c.735C= (p.Gly245=) c.666C= (p.Gly222=) | |
| 6 | g.33178156G>T | CA449885332 | COL11A2 | c.445+152C>A c.1848C>A (p.Gly616=) c.1527C>A (p.Gly509=) c.1590C>A (p.Gly530=) c.1002C>A (p.Gly334=) c.1134C>A (p.Gly378=) c.954C>A (p.Gly318=) c.891C>A (p.Gly297=) c.735C>A (p.Gly245=) c.666C>A (p.Gly222=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33178157C>A | CA363656399 | COL11A2 | c.445+151G>T c.1847G>T (p.Gly616Val) c.1526G>T (p.Gly509Val) c.1589G>T (p.Gly530Val) c.1001G>T (p.Gly334Val) c.1133G>T (p.Gly378Val) c.953G>T (p.Gly318Val) c.890G>T (p.Gly297Val) c.734G>T (p.Gly245Val) c.665G>T (p.Gly222Val) | gnomAD v4 |
| 6 | g.33178157C>G | CA363656401 | COL11A2 | c.445+151G>C c.1847G>C (p.Gly616Ala) c.1526G>C (p.Gly509Ala) c.1589G>C (p.Gly530Ala) c.1001G>C (p.Gly334Ala) c.1133G>C (p.Gly378Ala) c.953G>C (p.Gly318Ala) c.890G>C (p.Gly297Ala) c.734G>C (p.Gly245Ala) c.665G>C (p.Gly222Ala) | |
| 6 | g.33178157C>T | CA363656404 | COL11A2 | c.445+151G>A c.1847G>A (p.Gly616Asp) c.1526G>A (p.Gly509Asp) c.1589G>A (p.Gly530Asp) c.1001G>A (p.Gly334Asp) c.1133G>A (p.Gly378Asp) c.953G>A (p.Gly318Asp) c.890G>A (p.Gly297Asp) c.734G>A (p.Gly245Asp) c.665G>A (p.Gly222Asp) | |
| 6 | g.33178158C>A | CA363656416 | COL11A2 | c.445+150G>T c.1846G>T (p.Gly616Cys) c.1525G>T (p.Gly509Cys) c.1588G>T (p.Gly530Cys) c.1000G>T (p.Gly334Cys) c.1132G>T (p.Gly378Cys) c.952G>T (p.Gly318Cys) c.889G>T (p.Gly297Cys) c.733G>T (p.Gly245Cys) c.664G>T (p.Gly222Cys) | |
| 6 | g.33178158C>G | CA363656414 | COL11A2 | c.445+150G>C c.1846G>C (p.Gly616Arg) c.1525G>C (p.Gly509Arg) c.1588G>C (p.Gly530Arg) c.1000G>C (p.Gly334Arg) c.1132G>C (p.Gly378Arg) c.952G>C (p.Gly318Arg) c.889G>C (p.Gly297Arg) c.733G>C (p.Gly245Arg) c.664G>C (p.Gly222Arg) | |
| 6 | g.33178158C>T | CA363656412 | COL11A2 | c.445+150G>A c.1846G>A (p.Gly616Ser) c.1525G>A (p.Gly509Ser) c.1588G>A (p.Gly530Ser) c.1000G>A (p.Gly334Ser) c.1132G>A (p.Gly378Ser) c.952G>A (p.Gly318Ser) c.889G>A (p.Gly297Ser) c.733G>A (p.Gly245Ser) c.664G>A (p.Gly222Ser) | |
| 6 | g.33178159T>A | CA137073194 | COL11A2 | c.445+149A>T c.1845A>T (p.Lys615Asn) c.1524A>T (p.Lys508Asn) c.1587A>T (p.Lys529Asn) c.999A>T (p.Lys333Asn) c.1131A>T (p.Lys377Asn) c.951A>T (p.Lys317Asn) c.888A>T (p.Lys296Asn) c.732A>T (p.Lys244Asn) c.663A>T (p.Lys221Asn) | dbSNP gnomAD v4 |
| 6 | g.33178159T>C | CA449885333 | COL11A2 | c.445+149A>G c.1845A>G (p.Lys615=) c.1524A>G (p.Lys508=) c.1587A>G (p.Lys529=) c.999A>G (p.Lys333=) c.1131A>G (p.Lys377=) c.951A>G (p.Lys317=) c.888A>G (p.Lys296=) c.732A>G (p.Lys244=) c.663A>G (p.Lys221=) | gnomAD v4 |
| 6 | g.33178159T>G | CA363656419 | COL11A2 | c.445+149A>C c.1845A>C (p.Lys615Asn) c.1524A>C (p.Lys508Asn) c.1587A>C (p.Lys529Asn) c.999A>C (p.Lys333Asn) c.1131A>C (p.Lys377Asn) c.951A>C (p.Lys317Asn) c.888A>C (p.Lys296Asn) c.732A>C (p.Lys244Asn) c.663A>C (p.Lys221Asn) | |
| 6 | g.33178159T= | CA1619899923 | COL11A2 | c.445+149A= c.1845A= (p.Lys615=) c.1524A= (p.Lys508=) c.1587A= (p.Lys529=) c.999A= (p.Lys333=) c.1131A= (p.Lys377=) c.951A= (p.Lys317=) c.888A= (p.Lys296=) c.732A= (p.Lys244=) c.663A= (p.Lys221=) | |
| 6 | g.33178160T>A | CA363656434 | COL11A2 | c.445+148A>T c.1844A>T (p.Lys615Ile) c.1523A>T (p.Lys508Ile) c.1586A>T (p.Lys529Ile) c.998A>T (p.Lys333Ile) c.1130A>T (p.Lys377Ile) c.950A>T (p.Lys317Ile) c.887A>T (p.Lys296Ile) c.731A>T (p.Lys244Ile) c.662A>T (p.Lys221Ile) | gnomAD v4 |
| 6 | g.33178160T>C | CA363656445 | COL11A2 | c.445+148A>G c.1844A>G (p.Lys615Arg) c.1523A>G (p.Lys508Arg) c.1586A>G (p.Lys529Arg) c.998A>G (p.Lys333Arg) c.1130A>G (p.Lys377Arg) c.950A>G (p.Lys317Arg) c.887A>G (p.Lys296Arg) c.731A>G (p.Lys244Arg) c.662A>G (p.Lys221Arg) | gnomAD v4 |
| 6 | g.33178160T>G | CA363656447 | COL11A2 | c.445+148A>C c.1844A>C (p.Lys615Thr) c.1523A>C (p.Lys508Thr) c.1586A>C (p.Lys529Thr) c.998A>C (p.Lys333Thr) c.1130A>C (p.Lys377Thr) c.950A>C (p.Lys317Thr) c.887A>C (p.Lys296Thr) c.731A>C (p.Lys244Thr) c.662A>C (p.Lys221Thr) | |
| 6 | g.33178161T>A | CA363656448 | COL11A2 | c.445+147A>T c.1843A>T (p.Lys615Ter) c.1522A>T (p.Lys508Ter) c.1585A>T (p.Lys529Ter) c.997A>T (p.Lys333Ter) c.1129A>T (p.Lys377Ter) c.949A>T (p.Lys317Ter) c.886A>T (p.Lys296Ter) c.730A>T (p.Lys244Ter) c.661A>T (p.Lys221Ter) | |
| 6 | g.33178161T>C | CA363656449 | COL11A2 | c.445+147A>G c.1843A>G (p.Lys615Glu) c.1522A>G (p.Lys508Glu) c.1585A>G (p.Lys529Glu) c.997A>G (p.Lys333Glu) c.1129A>G (p.Lys377Glu) c.949A>G (p.Lys317Glu) c.886A>G (p.Lys296Glu) c.730A>G (p.Lys244Glu) c.661A>G (p.Lys221Glu) | |
| 6 | g.33178161T>G | CA363656451 | COL11A2 | c.445+147A>C c.1843A>C (p.Lys615Gln) c.1522A>C (p.Lys508Gln) c.1585A>C (p.Lys529Gln) c.997A>C (p.Lys333Gln) c.1129A>C (p.Lys377Gln) c.949A>C (p.Lys317Gln) c.886A>C (p.Lys296Gln) c.730A>C (p.Lys244Gln) c.661A>C (p.Lys221Gln) | |
| 6 | g.33178162G>A | CA3751174 | COL11A2 | c.445+146C>T c.1842C>T (p.Pro614=) c.1521C>T (p.Pro507=) c.1584C>T (p.Pro528=) c.996C>T (p.Pro332=) c.1128C>T (p.Pro376=) c.948C>T (p.Pro316=) c.885C>T (p.Pro295=) c.729C>T (p.Pro243=) c.660C>T (p.Pro220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178162G>C | CA449885336 | COL11A2 | c.445+146C>G c.1842C>G (p.Pro614=) c.1521C>G (p.Pro507=) c.1584C>G (p.Pro528=) c.996C>G (p.Pro332=) c.1128C>G (p.Pro376=) c.948C>G (p.Pro316=) c.885C>G (p.Pro295=) c.729C>G (p.Pro243=) c.660C>G (p.Pro220=) | |
| 6 | g.33178162G= | CA1619899924 | COL11A2 | c.445+146C= c.1842C= (p.Pro614=) c.1521C= (p.Pro507=) c.1584C= (p.Pro528=) c.996C= (p.Pro332=) c.1128C= (p.Pro376=) c.948C= (p.Pro316=) c.885C= (p.Pro295=) c.729C= (p.Pro243=) c.660C= (p.Pro220=) | |
| 6 | g.33178162G>T | CA449885337 | COL11A2 | c.445+146C>A c.1842C>A (p.Pro614=) c.1521C>A (p.Pro507=) c.1584C>A (p.Pro528=) c.996C>A (p.Pro332=) c.1128C>A (p.Pro376=) c.948C>A (p.Pro316=) c.885C>A (p.Pro295=) c.729C>A (p.Pro243=) c.660C>A (p.Pro220=) | gnomAD v4 |
| 6 | g.33178163G>A | CA363656457 | COL11A2 | c.445+145C>T c.1841C>T (p.Pro614Leu) c.1520C>T (p.Pro507Leu) c.1583C>T (p.Pro528Leu) c.995C>T (p.Pro332Leu) c.1127C>T (p.Pro376Leu) c.947C>T (p.Pro316Leu) c.884C>T (p.Pro295Leu) c.728C>T (p.Pro243Leu) c.659C>T (p.Pro220Leu) | gnomAD v4 |
| 6 | g.33178163G>C | CA363656465 | COL11A2 | c.445+145C>G c.1841C>G (p.Pro614Arg) c.1520C>G (p.Pro507Arg) c.1583C>G (p.Pro528Arg) c.995C>G (p.Pro332Arg) c.1127C>G (p.Pro376Arg) c.947C>G (p.Pro316Arg) c.884C>G (p.Pro295Arg) c.728C>G (p.Pro243Arg) c.659C>G (p.Pro220Arg) | |
| 6 | g.33178163G>T | CA363656466 | COL11A2 | c.445+145C>A c.1841C>A (p.Pro614His) c.1520C>A (p.Pro507His) c.1583C>A (p.Pro528His) c.995C>A (p.Pro332His) c.1127C>A (p.Pro376His) c.947C>A (p.Pro316His) c.884C>A (p.Pro295His) c.728C>A (p.Pro243His) c.659C>A (p.Pro220His) | |
| 6 | g.33178164G>A | CA363656472 | COL11A2 | c.445+144C>T c.1840C>T (p.Pro614Ser) c.1519C>T (p.Pro507Ser) c.1582C>T (p.Pro528Ser) c.994C>T (p.Pro332Ser) c.1126C>T (p.Pro376Ser) c.946C>T (p.Pro316Ser) c.883C>T (p.Pro295Ser) c.727C>T (p.Pro243Ser) c.658C>T (p.Pro220Ser) | gnomAD v4 |
| 6 | g.33178164G>C | CA363656481 | COL11A2 | c.445+144C>G c.1840C>G (p.Pro614Ala) c.1519C>G (p.Pro507Ala) c.1582C>G (p.Pro528Ala) c.994C>G (p.Pro332Ala) c.1126C>G (p.Pro376Ala) c.946C>G (p.Pro316Ala) c.883C>G (p.Pro295Ala) c.727C>G (p.Pro243Ala) c.658C>G (p.Pro220Ala) | dbSNP |
| 6 | g.33178164G= | CA1619899925 | COL11A2 | c.445+144C= c.1840C= (p.Pro614=) c.1519C= (p.Pro507=) c.1582C= (p.Pro528=) c.994C= (p.Pro332=) c.1126C= (p.Pro376=) c.946C= (p.Pro316=) c.883C= (p.Pro295=) c.727C= (p.Pro243=) c.658C= (p.Pro220=) | |
| 6 | g.33178164G>T | CA363656483 | COL11A2 | c.445+144C>A c.1840C>A (p.Pro614Thr) c.1519C>A (p.Pro507Thr) c.1582C>A (p.Pro528Thr) c.994C>A (p.Pro332Thr) c.1126C>A (p.Pro376Thr) c.946C>A (p.Pro316Thr) c.883C>A (p.Pro295Thr) c.727C>A (p.Pro243Thr) c.658C>A (p.Pro220Thr) | |
| 6 | g.33178165G>A | CA449885339 | COL11A2 | c.445+143C>T c.1839C>T (p.Gly613=) c.1518C>T (p.Gly506=) c.1581C>T (p.Gly527=) c.993C>T (p.Gly331=) c.1125C>T (p.Gly375=) c.945C>T (p.Gly315=) c.882C>T (p.Gly294=) c.726C>T (p.Gly242=) c.657C>T (p.Gly219=) | |
| 6 | g.33178165G>C | CA449885340 | COL11A2 | c.445+143C>G c.1839C>G (p.Gly613=) c.1518C>G (p.Gly506=) c.1581C>G (p.Gly527=) c.993C>G (p.Gly331=) c.1125C>G (p.Gly375=) c.945C>G (p.Gly315=) c.882C>G (p.Gly294=) c.726C>G (p.Gly242=) c.657C>G (p.Gly219=) | |
| 6 | g.33178165G>T | CA449885338 | COL11A2 | c.445+143C>A c.1839C>A (p.Gly613=) c.1518C>A (p.Gly506=) c.1581C>A (p.Gly527=) c.993C>A (p.Gly331=) c.1125C>A (p.Gly375=) c.945C>A (p.Gly315=) c.882C>A (p.Gly294=) c.726C>A (p.Gly242=) c.657C>A (p.Gly219=) | |
| 6 | g.33178166C>A | CA363656486 | COL11A2 | c.445+142G>T c.1838G>T (p.Gly613Val) c.1517G>T (p.Gly506Val) c.1580G>T (p.Gly527Val) c.992G>T (p.Gly331Val) c.1124G>T (p.Gly375Val) c.944G>T (p.Gly315Val) c.881G>T (p.Gly294Val) c.725G>T (p.Gly242Val) c.656G>T (p.Gly219Val) | |
| 6 | g.33178166C>G | CA363656489 | COL11A2 | c.445+142G>C c.1838G>C (p.Gly613Ala) c.1517G>C (p.Gly506Ala) c.1580G>C (p.Gly527Ala) c.992G>C (p.Gly331Ala) c.1124G>C (p.Gly375Ala) c.944G>C (p.Gly315Ala) c.881G>C (p.Gly294Ala) c.725G>C (p.Gly242Ala) c.656G>C (p.Gly219Ala) | |
| 6 | g.33178166C>T | CA363656488 | COL11A2 | c.445+142G>A c.1838G>A (p.Gly613Asp) c.1517G>A (p.Gly506Asp) c.1580G>A (p.Gly527Asp) c.992G>A (p.Gly331Asp) c.1124G>A (p.Gly375Asp) c.944G>A (p.Gly315Asp) c.881G>A (p.Gly294Asp) c.725G>A (p.Gly242Asp) c.656G>A (p.Gly219Asp) | |
| 6 | g.33178167C>A | CA363656491 | COL11A2 | c.445+141G>T c.1837G>T (p.Gly613Cys) c.1516G>T (p.Gly506Cys) c.1579G>T (p.Gly527Cys) c.991G>T (p.Gly331Cys) c.1123G>T (p.Gly375Cys) c.943G>T (p.Gly315Cys) c.880G>T (p.Gly294Cys) c.724G>T (p.Gly242Cys) c.655G>T (p.Gly219Cys) | |
| 6 | g.33178167C>G | CA363656493 | COL11A2 | c.445+141G>C c.1837G>C (p.Gly613Arg) c.1516G>C (p.Gly506Arg) c.1579G>C (p.Gly527Arg) c.991G>C (p.Gly331Arg) c.1123G>C (p.Gly375Arg) c.943G>C (p.Gly315Arg) c.880G>C (p.Gly294Arg) c.724G>C (p.Gly242Arg) c.655G>C (p.Gly219Arg) | |
| 6 | g.33178167C>T | CA363656494 | COL11A2 | c.445+141G>A c.1837G>A (p.Gly613Ser) c.1516G>A (p.Gly506Ser) c.1579G>A (p.Gly527Ser) c.991G>A (p.Gly331Ser) c.1123G>A (p.Gly375Ser) c.943G>A (p.Gly315Ser) c.880G>A (p.Gly294Ser) c.724G>A (p.Gly242Ser) c.655G>A (p.Gly219Ser) | |
| 6 | g.33178168A>C | CA449885344 | COL11A2 | c.445+140T>G c.1836T>G (p.Leu612=) c.1515T>G (p.Leu505=) c.1578T>G (p.Leu526=) c.990T>G (p.Leu330=) c.1122T>G (p.Leu374=) c.942T>G (p.Leu314=) c.879T>G (p.Leu293=) c.723T>G (p.Leu241=) c.654T>G (p.Leu218=) | |
| 6 | g.33178168A>G | CA449885343 | COL11A2 | c.445+140T>C c.1836T>C (p.Leu612=) c.1515T>C (p.Leu505=) c.1578T>C (p.Leu526=) c.990T>C (p.Leu330=) c.1122T>C (p.Leu374=) c.942T>C (p.Leu314=) c.879T>C (p.Leu293=) c.723T>C (p.Leu241=) c.654T>C (p.Leu218=) | |
| 6 | g.33178168A>T | CA449885342 | COL11A2 | c.445+140T>A c.1836T>A (p.Leu612=) c.1515T>A (p.Leu505=) c.1578T>A (p.Leu526=) c.990T>A (p.Leu330=) c.1122T>A (p.Leu374=) c.942T>A (p.Leu314=) c.879T>A (p.Leu293=) c.723T>A (p.Leu241=) c.654T>A (p.Leu218=) | |
| 6 | g.33178169A>C | CA363656498 | COL11A2 | c.445+139T>G c.1835T>G (p.Leu612Arg) c.1514T>G (p.Leu505Arg) c.1577T>G (p.Leu526Arg) c.989T>G (p.Leu330Arg) c.1121T>G (p.Leu374Arg) c.941T>G (p.Leu314Arg) c.878T>G (p.Leu293Arg) c.722T>G (p.Leu241Arg) c.653T>G (p.Leu218Arg) | |
| 6 | g.33178169A>G | CA363656499 | COL11A2 | c.445+139T>C c.1835T>C (p.Leu612Pro) c.1514T>C (p.Leu505Pro) c.1577T>C (p.Leu526Pro) c.989T>C (p.Leu330Pro) c.1121T>C (p.Leu374Pro) c.941T>C (p.Leu314Pro) c.878T>C (p.Leu293Pro) c.722T>C (p.Leu241Pro) c.653T>C (p.Leu218Pro) | |
| 6 | g.33178169A>T | CA363656501 | COL11A2 | c.445+139T>A c.1835T>A (p.Leu612His) c.1514T>A (p.Leu505His) c.1577T>A (p.Leu526His) c.989T>A (p.Leu330His) c.1121T>A (p.Leu374His) c.941T>A (p.Leu314His) c.878T>A (p.Leu293His) c.722T>A (p.Leu241His) c.653T>A (p.Leu218His) | |
| 6 | g.33178170G>A | CA363656516 | COL11A2 | c.445+138C>T c.1834C>T (p.Leu612Phe) c.1513C>T (p.Leu505Phe) c.1576C>T (p.Leu526Phe) c.988C>T (p.Leu330Phe) c.1120C>T (p.Leu374Phe) c.940C>T (p.Leu314Phe) c.877C>T (p.Leu293Phe) c.721C>T (p.Leu241Phe) c.652C>T (p.Leu218Phe) | |
| 6 | g.33178170G>C | CA363656521 | COL11A2 | c.445+138C>G c.1834C>G (p.Leu612Val) c.1513C>G (p.Leu505Val) c.1576C>G (p.Leu526Val) c.988C>G (p.Leu330Val) c.1120C>G (p.Leu374Val) c.940C>G (p.Leu314Val) c.877C>G (p.Leu293Val) c.721C>G (p.Leu241Val) c.652C>G (p.Leu218Val) | |
| 6 | g.33178170G>T | CA363656529 | COL11A2 | c.445+138C>A c.1834C>A (p.Leu612Ile) c.1513C>A (p.Leu505Ile) c.1576C>A (p.Leu526Ile) c.988C>A (p.Leu330Ile) c.1120C>A (p.Leu374Ile) c.940C>A (p.Leu314Ile) c.877C>A (p.Leu293Ile) c.721C>A (p.Leu241Ile) c.652C>A (p.Leu218Ile) | |
| 6 | g.33178171G>A | CA449885352 | COL11A2 | c.445+137C>T c.1833C>T (p.Leu611=) c.1512C>T (p.Leu504=) c.1575C>T (p.Leu525=) c.987C>T (p.Leu329=) c.1119C>T (p.Leu373=) c.939C>T (p.Leu313=) c.876C>T (p.Leu292=) c.720C>T (p.Leu240=) c.651C>T (p.Leu217=) | |
| 6 | g.33178171G>C | CA449885349 | COL11A2 | c.445+137C>G c.1833C>G (p.Leu611=) c.1512C>G (p.Leu504=) c.1575C>G (p.Leu525=) c.987C>G (p.Leu329=) c.1119C>G (p.Leu373=) c.939C>G (p.Leu313=) c.876C>G (p.Leu292=) c.720C>G (p.Leu240=) c.651C>G (p.Leu217=) | |
| 6 | g.33178171G>T | CA449885351 | COL11A2 | c.445+137C>A c.1833C>A (p.Leu611=) c.1512C>A (p.Leu504=) c.1575C>A (p.Leu525=) c.987C>A (p.Leu329=) c.1119C>A (p.Leu373=) c.939C>A (p.Leu313=) c.876C>A (p.Leu292=) c.720C>A (p.Leu240=) c.651C>A (p.Leu217=) | |
| 6 | g.33178172A>C | CA363656534 | COL11A2 | c.445+136T>G c.1832T>G (p.Leu611Arg) c.1511T>G (p.Leu504Arg) c.1574T>G (p.Leu525Arg) c.986T>G (p.Leu329Arg) c.1118T>G (p.Leu373Arg) c.938T>G (p.Leu313Arg) c.875T>G (p.Leu292Arg) c.719T>G (p.Leu240Arg) c.650T>G (p.Leu217Arg) | |
| 6 | g.33178172A>G | CA363656542 | COL11A2 | c.445+136T>C c.1832T>C (p.Leu611Pro) c.1511T>C (p.Leu504Pro) c.1574T>C (p.Leu525Pro) c.986T>C (p.Leu329Pro) c.1118T>C (p.Leu373Pro) c.938T>C (p.Leu313Pro) c.875T>C (p.Leu292Pro) c.719T>C (p.Leu240Pro) c.650T>C (p.Leu217Pro) | |
| 6 | g.33178172A>T | CA363656547 | COL11A2 | c.445+136T>A c.1832T>A (p.Leu611His) c.1511T>A (p.Leu504His) c.1574T>A (p.Leu525His) c.986T>A (p.Leu329His) c.1118T>A (p.Leu373His) c.938T>A (p.Leu313His) c.875T>A (p.Leu292His) c.719T>A (p.Leu240His) c.650T>A (p.Leu217His) | |
| 6 | g.33178173G>A | CA363656553 | COL11A2 | c.445+135C>T c.1831C>T (p.Leu611Phe) c.1510C>T (p.Leu504Phe) c.1573C>T (p.Leu525Phe) c.985C>T (p.Leu329Phe) c.1117C>T (p.Leu373Phe) c.937C>T (p.Leu313Phe) c.874C>T (p.Leu292Phe) c.718C>T (p.Leu240Phe) c.649C>T (p.Leu217Phe) | |
| 6 | g.33178173G>C | CA363656561 | COL11A2 | c.445+135C>G c.1831C>G (p.Leu611Val) c.1510C>G (p.Leu504Val) c.1573C>G (p.Leu525Val) c.985C>G (p.Leu329Val) c.1117C>G (p.Leu373Val) c.937C>G (p.Leu313Val) c.874C>G (p.Leu292Val) c.718C>G (p.Leu240Val) c.649C>G (p.Leu217Val) | ClinVar |
| 6 | g.33178173G>T | CA363656551 | COL11A2 | c.445+135C>A c.1831C>A (p.Leu611Ile) c.1510C>A (p.Leu504Ile) c.1573C>A (p.Leu525Ile) c.985C>A (p.Leu329Ile) c.1117C>A (p.Leu373Ile) c.937C>A (p.Leu313Ile) c.874C>A (p.Leu292Ile) c.718C>A (p.Leu240Ile) c.649C>A (p.Leu217Ile) | |
| 6 | g.33178174A= | CA1619899926 | COL11A2 | c.445+134T= c.1830T= (p.Gly610=) c.1509T= (p.Gly503=) c.1572T= (p.Gly524=) c.984T= (p.Gly328=) c.1116T= (p.Gly372=) c.936T= (p.Gly312=) c.873T= (p.Gly291=) c.717T= (p.Gly239=) c.648T= (p.Gly216=) | |
| 6 | g.33178174A>C | CA449885353 | COL11A2 | c.445+134T>G c.1830T>G (p.Gly610=) c.1509T>G (p.Gly503=) c.1572T>G (p.Gly524=) c.984T>G (p.Gly328=) c.1116T>G (p.Gly372=) c.936T>G (p.Gly312=) c.873T>G (p.Gly291=) c.717T>G (p.Gly239=) c.648T>G (p.Gly216=) | |
| 6 | g.33178174A>G | CA449885354 | COL11A2 | c.445+134T>C c.1830T>C (p.Gly610=) c.1509T>C (p.Gly503=) c.1572T>C (p.Gly524=) c.984T>C (p.Gly328=) c.1116T>C (p.Gly372=) c.936T>C (p.Gly312=) c.873T>C (p.Gly291=) c.717T>C (p.Gly239=) c.648T>C (p.Gly216=) | |
| 6 | g.33178174A>T | CA3751175 | COL11A2 | c.445+134T>A c.1830T>A (p.Gly610=) c.1509T>A (p.Gly503=) c.1572T>A (p.Gly524=) c.984T>A (p.Gly328=) c.1116T>A (p.Gly372=) c.936T>A (p.Gly312=) c.873T>A (p.Gly291=) c.717T>A (p.Gly239=) c.648T>A (p.Gly216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33178175C>A | CA363656589 | COL11A2 | c.445+133G>T c.1829G>T (p.Gly610Val) c.1508G>T (p.Gly503Val) c.1571G>T (p.Gly524Val) c.983G>T (p.Gly328Val) c.1115G>T (p.Gly372Val) c.935G>T (p.Gly312Val) c.872G>T (p.Gly291Val) c.716G>T (p.Gly239Val) c.647G>T (p.Gly216Val) | |
| 6 | g.33178175C>G | CA363656572 | COL11A2 | c.445+133G>C c.1829G>C (p.Gly610Ala) c.1508G>C (p.Gly503Ala) c.1571G>C (p.Gly524Ala) c.983G>C (p.Gly328Ala) c.1115G>C (p.Gly372Ala) c.935G>C (p.Gly312Ala) c.872G>C (p.Gly291Ala) c.716G>C (p.Gly239Ala) c.647G>C (p.Gly216Ala) | |
| 6 | g.33178175C>T | CA363656576 | COL11A2 | c.445+133G>A c.1829G>A (p.Gly610Asp) c.1508G>A (p.Gly503Asp) c.1571G>A (p.Gly524Asp) c.983G>A (p.Gly328Asp) c.1115G>A (p.Gly372Asp) c.935G>A (p.Gly312Asp) c.872G>A (p.Gly291Asp) c.716G>A (p.Gly239Asp) c.647G>A (p.Gly216Asp) | |
| 6 | g.33178176C>A | CA363656593 | COL11A2 | c.445+132G>T c.1828G>T (p.Gly610Cys) c.1507G>T (p.Gly503Cys) c.1570G>T (p.Gly524Cys) c.982G>T (p.Gly328Cys) c.1114G>T (p.Gly372Cys) c.934G>T (p.Gly312Cys) c.871G>T (p.Gly291Cys) c.715G>T (p.Gly239Cys) c.646G>T (p.Gly216Cys) | |
| 6 | g.33178176C>G | CA363656602 | COL11A2 | c.445+132G>C c.1828G>C (p.Gly610Arg) c.1507G>C (p.Gly503Arg) c.1570G>C (p.Gly524Arg) c.982G>C (p.Gly328Arg) c.1114G>C (p.Gly372Arg) c.934G>C (p.Gly312Arg) c.871G>C (p.Gly291Arg) c.715G>C (p.Gly239Arg) c.646G>C (p.Gly216Arg) | |
| 6 | g.33178176C>T | CA363656624 | COL11A2 | c.445+132G>A c.1828G>A (p.Gly610Ser) c.1507G>A (p.Gly503Ser) c.1570G>A (p.Gly524Ser) c.982G>A (p.Gly328Ser) c.1114G>A (p.Gly372Ser) c.934G>A (p.Gly312Ser) c.871G>A (p.Gly291Ser) c.715G>A (p.Gly239Ser) c.646G>A (p.Gly216Ser) | |
| 6 | g.33178177T>A | CA449885360 | COL11A2 | c.445+131A>T c.1827A>T (p.Arg609=) c.1506A>T (p.Arg502=) c.1569A>T (p.Arg523=) c.981A>T (p.Arg327=) c.1113A>T (p.Arg371=) c.933A>T (p.Arg311=) c.870A>T (p.Arg290=) c.714A>T (p.Arg238=) c.645A>T (p.Arg215=) | dbSNP |
| 6 | g.33178177T>C | CA449885362 | COL11A2 | c.445+131A>G c.1827A>G (p.Arg609=) c.1506A>G (p.Arg502=) c.1569A>G (p.Arg523=) c.981A>G (p.Arg327=) c.1113A>G (p.Arg371=) c.933A>G (p.Arg311=) c.870A>G (p.Arg290=) c.714A>G (p.Arg238=) c.645A>G (p.Arg215=) | |
| 6 | g.33178177T>G | CA449885363 | COL11A2 | c.445+131A>C c.1827A>C (p.Arg609=) c.1506A>C (p.Arg502=) c.1569A>C (p.Arg523=) c.981A>C (p.Arg327=) c.1113A>C (p.Arg371=) c.933A>C (p.Arg311=) c.870A>C (p.Arg290=) c.714A>C (p.Arg238=) c.645A>C (p.Arg215=) | |
| 6 | g.33178177T= | CA1619899927 | COL11A2 | c.445+131A= c.1827A= (p.Arg609=) c.1506A= (p.Arg502=) c.1569A= (p.Arg523=) c.981A= (p.Arg327=) c.1113A= (p.Arg371=) c.933A= (p.Arg311=) c.870A= (p.Arg290=) c.714A= (p.Arg238=) c.645A= (p.Arg215=) | |
| 6 | g.33178178C>A | CA363656626 | COL11A2 | c.445+130G>T c.1826G>T (p.Arg609Leu) c.1505G>T (p.Arg502Leu) c.1568G>T (p.Arg523Leu) c.980G>T (p.Arg327Leu) c.1112G>T (p.Arg371Leu) c.932G>T (p.Arg311Leu) c.869G>T (p.Arg290Leu) c.713G>T (p.Arg238Leu) c.644G>T (p.Arg215Leu) | gnomAD v4 |
| 6 | g.33178178C= | CA1619899928 | COL11A2 | c.445+130G= c.1826G= (p.Arg609=) c.1505G= (p.Arg502=) c.1568G= (p.Arg523=) c.980G= (p.Arg327=) c.1112G= (p.Arg371=) c.932G= (p.Arg311=) c.869G= (p.Arg290=) c.713G= (p.Arg238=) c.644G= (p.Arg215=) | |
| 6 | g.33178178C>G | CA363656628 | COL11A2 | c.445+130G>C c.1826G>C (p.Arg609Pro) c.1505G>C (p.Arg502Pro) c.1568G>C (p.Arg523Pro) c.980G>C (p.Arg327Pro) c.1112G>C (p.Arg371Pro) c.932G>C (p.Arg311Pro) c.869G>C (p.Arg290Pro) c.713G>C (p.Arg238Pro) c.644G>C (p.Arg215Pro) | |
| 6 | g.33178178C>T | CA3751176 | COL11A2 | c.445+130G>A c.1826G>A (p.Arg609Gln) c.1505G>A (p.Arg502Gln) c.1568G>A (p.Arg523Gln) c.980G>A (p.Arg327Gln) c.1112G>A (p.Arg371Gln) c.932G>A (p.Arg311Gln) c.869G>A (p.Arg290Gln) c.713G>A (p.Arg238Gln) c.644G>A (p.Arg215Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178179G>A | CA363656638 | COL11A2 | c.445+129C>T c.1825C>T (p.Arg609Ter) c.1504C>T (p.Arg502Ter) c.1567C>T (p.Arg523Ter) c.979C>T (p.Arg327Ter) c.1111C>T (p.Arg371Ter) c.931C>T (p.Arg311Ter) c.868C>T (p.Arg290Ter) c.712C>T (p.Arg238Ter) c.643C>T (p.Arg215Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178179G>C | CA3751177 | COL11A2 | c.445+129C>G c.1825C>G (p.Arg609Gly) c.1504C>G (p.Arg502Gly) c.1567C>G (p.Arg523Gly) c.979C>G (p.Arg327Gly) c.1111C>G (p.Arg371Gly) c.931C>G (p.Arg311Gly) c.868C>G (p.Arg290Gly) c.712C>G (p.Arg238Gly) c.643C>G (p.Arg215Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33178179G= | CA1619899929 | COL11A2 | c.445+129C= c.1825C= (p.Arg609=) c.1504C= (p.Arg502=) c.1567C= (p.Arg523=) c.979C= (p.Arg327=) c.1111C= (p.Arg371=) c.931C= (p.Arg311=) c.868C= (p.Arg290=) c.712C= (p.Arg238=) c.643C= (p.Arg215=) | |
| 6 | g.33178179G>T | CA449885368 | COL11A2 | c.445+129C>A c.1825C>A (p.Arg609=) c.1504C>A (p.Arg502=) c.1567C>A (p.Arg523=) c.979C>A (p.Arg327=) c.1111C>A (p.Arg371=) c.931C>A (p.Arg311=) c.868C>A (p.Arg290=) c.712C>A (p.Arg238=) c.643C>A (p.Arg215=) | |
| 6 | g.33178180A>C | CA449885369 | COL11A2 | c.445+128T>G c.1824T>G (p.Pro608=) c.1503T>G (p.Pro501=) c.1566T>G (p.Pro522=) c.978T>G (p.Pro326=) c.1110T>G (p.Pro370=) c.930T>G (p.Pro310=) c.867T>G (p.Pro289=) c.711T>G (p.Pro237=) c.642T>G (p.Pro214=) | |
| 6 | g.33178180A>G | CA449885370 | COL11A2 | c.445+128T>C c.1824T>C (p.Pro608=) c.1503T>C (p.Pro501=) c.1566T>C (p.Pro522=) c.978T>C (p.Pro326=) c.1110T>C (p.Pro370=) c.930T>C (p.Pro310=) c.867T>C (p.Pro289=) c.711T>C (p.Pro237=) c.642T>C (p.Pro214=) | |
| 6 | g.33178180A>T | CA449885371 | COL11A2 | c.445+128T>A c.1824T>A (p.Pro608=) c.1503T>A (p.Pro501=) c.1566T>A (p.Pro522=) c.978T>A (p.Pro326=) c.1110T>A (p.Pro370=) c.930T>A (p.Pro310=) c.867T>A (p.Pro289=) c.711T>A (p.Pro237=) c.642T>A (p.Pro214=) | |
| 6 | g.33178181G>A | CA363656674 | COL11A2 | c.445+127C>T c.1823C>T (p.Pro608Leu) c.1502C>T (p.Pro501Leu) c.1565C>T (p.Pro522Leu) c.977C>T (p.Pro326Leu) c.1109C>T (p.Pro370Leu) c.929C>T (p.Pro310Leu) c.866C>T (p.Pro289Leu) c.710C>T (p.Pro237Leu) c.641C>T (p.Pro214Leu) | |
| 6 | g.33178181G>C | CA363656673 | COL11A2 | c.445+127C>G c.1823C>G (p.Pro608Arg) c.1502C>G (p.Pro501Arg) c.1565C>G (p.Pro522Arg) c.977C>G (p.Pro326Arg) c.1109C>G (p.Pro370Arg) c.929C>G (p.Pro310Arg) c.866C>G (p.Pro289Arg) c.710C>G (p.Pro237Arg) c.641C>G (p.Pro214Arg) | |
| 6 | g.33178181G>T | CA363656665 | COL11A2 | c.445+127C>A c.1823C>A (p.Pro608His) c.1502C>A (p.Pro501His) c.1565C>A (p.Pro522His) c.977C>A (p.Pro326His) c.1109C>A (p.Pro370His) c.929C>A (p.Pro310His) c.866C>A (p.Pro289His) c.710C>A (p.Pro237His) c.641C>A (p.Pro214His) | |
| 6 | g.33178182G>A | CA363656678 | COL11A2 | c.445+126C>T c.1822C>T (p.Pro608Ser) c.1501C>T (p.Pro501Ser) c.1564C>T (p.Pro522Ser) c.976C>T (p.Pro326Ser) c.1108C>T (p.Pro370Ser) c.928C>T (p.Pro310Ser) c.865C>T (p.Pro289Ser) c.709C>T (p.Pro237Ser) c.640C>T (p.Pro214Ser) | |
| 6 | g.33178182G>C | CA363656686 | COL11A2 | c.445+126C>G c.1822C>G (p.Pro608Ala) c.1501C>G (p.Pro501Ala) c.1564C>G (p.Pro522Ala) c.976C>G (p.Pro326Ala) c.1108C>G (p.Pro370Ala) c.928C>G (p.Pro310Ala) c.865C>G (p.Pro289Ala) c.709C>G (p.Pro237Ala) c.640C>G (p.Pro214Ala) | gnomAD v4 |
| 6 | g.33178182G>T | CA363656694 | COL11A2 | c.445+126C>A c.1822C>A (p.Pro608Thr) c.1501C>A (p.Pro501Thr) c.1564C>A (p.Pro522Thr) c.976C>A (p.Pro326Thr) c.1108C>A (p.Pro370Thr) c.928C>A (p.Pro310Thr) c.865C>A (p.Pro289Thr) c.709C>A (p.Pro237Thr) c.640C>A (p.Pro214Thr) | gnomAD v4 |
| 6 | g.33178183T>A | CA449885374 | COL11A2 | c.445+125A>T c.1821A>T (p.Gly607=) c.1500A>T (p.Gly500=) c.1563A>T (p.Gly521=) c.975A>T (p.Gly325=) c.1107A>T (p.Gly369=) c.927A>T (p.Gly309=) c.864A>T (p.Gly288=) c.708A>T (p.Gly236=) c.639A>T (p.Gly213=) | |
| 6 | g.33178183T>C | CA449885375 | COL11A2 | c.445+125A>G c.1821A>G (p.Gly607=) c.1500A>G (p.Gly500=) c.1563A>G (p.Gly521=) c.975A>G (p.Gly325=) c.1107A>G (p.Gly369=) c.927A>G (p.Gly309=) c.864A>G (p.Gly288=) c.708A>G (p.Gly236=) c.639A>G (p.Gly213=) | |
| 6 | g.33178183T>G | CA449885376 | COL11A2 | c.445+125A>C c.1821A>C (p.Gly607=) c.1500A>C (p.Gly500=) c.1563A>C (p.Gly521=) c.975A>C (p.Gly325=) c.1107A>C (p.Gly369=) c.927A>C (p.Gly309=) c.864A>C (p.Gly288=) c.708A>C (p.Gly236=) c.639A>C (p.Gly213=) | |
| 6 | g.33178184C>A | CA363656700 | COL11A2 | c.445+124G>T c.1820G>T (p.Gly607Val) c.1499G>T (p.Gly500Val) c.1562G>T (p.Gly521Val) c.974G>T (p.Gly325Val) c.1106G>T (p.Gly369Val) c.926G>T (p.Gly309Val) c.863G>T (p.Gly288Val) c.707G>T (p.Gly236Val) c.638G>T (p.Gly213Val) | dbSNP |
| 6 | g.33178184C>G | CA363656702 | COL11A2 | c.445+124G>C c.1820G>C (p.Gly607Ala) c.1499G>C (p.Gly500Ala) c.1562G>C (p.Gly521Ala) c.974G>C (p.Gly325Ala) c.1106G>C (p.Gly369Ala) c.926G>C (p.Gly309Ala) c.863G>C (p.Gly288Ala) c.707G>C (p.Gly236Ala) c.638G>C (p.Gly213Ala) | |
| 6 | g.33178184C>T | CA363656705 | COL11A2 | c.445+124G>A c.1820G>A (p.Gly607Glu) c.1499G>A (p.Gly500Glu) c.1562G>A (p.Gly521Glu) c.974G>A (p.Gly325Glu) c.1106G>A (p.Gly369Glu) c.926G>A (p.Gly309Glu) c.863G>A (p.Gly288Glu) c.707G>A (p.Gly236Glu) c.638G>A (p.Gly213Glu) | gnomAD v4 |
| 6 | g.33178185C>A | CA363656711 | COL11A2 | c.445+123G>T c.1819G>T (p.Gly607Ter) c.1498G>T (p.Gly500Ter) c.1561G>T (p.Gly521Ter) c.973G>T (p.Gly325Ter) c.1105G>T (p.Gly369Ter) c.925G>T (p.Gly309Ter) c.862G>T (p.Gly288Ter) c.706G>T (p.Gly236Ter) c.637G>T (p.Gly213Ter) | |
| 6 | g.33178185C= | CA1619899930 | COL11A2 | c.445+123G= c.1819G= (p.Gly607=) c.1498G= (p.Gly500=) c.1561G= (p.Gly521=) c.973G= (p.Gly325=) c.1105G= (p.Gly369=) c.925G= (p.Gly309=) c.862G= (p.Gly288=) c.706G= (p.Gly236=) c.637G= (p.Gly213=) | |
| 6 | g.33178185C>G | CA363656713 | COL11A2 | c.445+123G>C c.1819G>C (p.Gly607Arg) c.1498G>C (p.Gly500Arg) c.1561G>C (p.Gly521Arg) c.973G>C (p.Gly325Arg) c.1105G>C (p.Gly369Arg) c.925G>C (p.Gly309Arg) c.862G>C (p.Gly288Arg) c.706G>C (p.Gly236Arg) c.637G>C (p.Gly213Arg) | |
| 6 | g.33178185C>T | CA363656714 | COL11A2 | c.445+123G>A c.1819G>A (p.Gly607Arg) c.1498G>A (p.Gly500Arg) c.1561G>A (p.Gly521Arg) c.973G>A (p.Gly325Arg) c.1105G>A (p.Gly369Arg) c.925G>A (p.Gly309Arg) c.862G>A (p.Gly288Arg) c.706G>A (p.Gly236Arg) c.637G>A (p.Gly213Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178186C>A | CA363656715 | COL11A2 | c.445+122G>T c.1819-1G>T (n.1819-1G>T) c.1498-1G>T (n.1498-1G>T) c.1561-1G>T (n.1561-1G>T) c.973-1G>T (n.973-1G>T) c.1105-1G>T (n.1105-1G>T) c.925-1G>T (n.925-1G>T) c.862-1G>T (n.862-1G>T) c.706-1G>T (n.706-1G>T) c.637-1G>T (n.637-1G>T) | |
| 6 | g.33178186C>G | CA363656717 | COL11A2 | c.445+122G>C c.1819-1G>C (n.1819-1G>C) c.1498-1G>C (n.1498-1G>C) c.1561-1G>C (n.1561-1G>C) c.973-1G>C (n.973-1G>C) c.1105-1G>C (n.1105-1G>C) c.925-1G>C (n.925-1G>C) c.862-1G>C (n.862-1G>C) c.706-1G>C (n.706-1G>C) c.637-1G>C (n.637-1G>C) | |
| 6 | g.33178186C>T | CA363656728 | COL11A2 | c.445+122G>A c.1819-1G>A (n.1819-1G>A) c.1498-1G>A (n.1498-1G>A) c.1561-1G>A (n.1561-1G>A) c.973-1G>A (n.973-1G>A) c.1105-1G>A (n.1105-1G>A) c.925-1G>A (n.925-1G>A) c.862-1G>A (n.862-1G>A) c.706-1G>A (n.706-1G>A) c.637-1G>A (n.637-1G>A) | |
| 6 | g.33178187T>A | CA363656734 | COL11A2 | c.445+121A>T c.1819-2A>T (n.1819-2A>T) c.1498-2A>T (n.1498-2A>T) c.1561-2A>T (n.1561-2A>T) c.973-2A>T (n.973-2A>T) c.1105-2A>T (n.1105-2A>T) c.925-2A>T (n.925-2A>T) c.862-2A>T (n.862-2A>T) c.706-2A>T (n.706-2A>T) c.637-2A>T (n.637-2A>T) | |
| 6 | g.33178187T>C | CA363656737 | COL11A2 | c.445+121A>G c.1819-2A>G (n.1819-2A>G) c.1498-2A>G (n.1498-2A>G) c.1561-2A>G (n.1561-2A>G) c.973-2A>G (n.973-2A>G) c.1105-2A>G (n.1105-2A>G) c.925-2A>G (n.925-2A>G) c.862-2A>G (n.862-2A>G) c.706-2A>G (n.706-2A>G) c.637-2A>G (n.637-2A>G) | gnomAD v4 |
| 6 | g.33178187T>G | CA363656732 | COL11A2 | c.445+121A>C c.1819-2A>C (n.1819-2A>C) c.1498-2A>C (n.1498-2A>C) c.1561-2A>C (n.1561-2A>C) c.973-2A>C (n.973-2A>C) c.1105-2A>C (n.1105-2A>C) c.925-2A>C (n.925-2A>C) c.862-2A>C (n.862-2A>C) c.706-2A>C (n.706-2A>C) c.637-2A>C (n.637-2A>C) | |
| 6 | g.33178188G>A | CA566698923 | COL11A2 | c.445+120C>T c.1819-3C>T (n.1819-3C>T) c.1498-3C>T (n.1498-3C>T) c.1561-3C>T (n.1561-3C>T) c.973-3C>T (n.973-3C>T) c.1105-3C>T (n.1105-3C>T) c.925-3C>T (n.925-3C>T) c.862-3C>T (n.862-3C>T) c.706-3C>T (n.706-3C>T) c.637-3C>T (n.637-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178188G= | CA1619899931 | COL11A2 | c.445+120C= c.1819-3C= (n.1819-3C=) c.1498-3C= (n.1498-3C=) c.1561-3C= (n.1561-3C=) c.973-3C= (n.973-3C=) c.1105-3C= (n.1105-3C=) c.925-3C= (n.925-3C=) c.862-3C= (n.862-3C=) c.706-3C= (n.706-3C=) c.637-3C= (n.637-3C=) | |
| 6 | g.33178191T>C | CA2678219821 | COL11A2 | c.445+117A>G c.1819-6A>G (n.1819-6A>G) c.1498-6A>G (n.1498-6A>G) c.1561-6A>G (n.1561-6A>G) c.973-6A>G (n.973-6A>G) c.1105-6A>G (n.1105-6A>G) c.925-6A>G (n.925-6A>G) c.862-6A>G (n.862-6A>G) c.706-6A>G (n.706-6A>G) c.637-6A>G (n.637-6A>G) | gnomAD v4 |
| 6 | g.33178192dup | CA2678219819 | COL11A2 | c.445+117dup c.1819-6dup (n.1819-6dup) c.1498-6dup (n.1498-6dup) c.1561-6dup (n.1561-6dup) c.973-6dup (n.973-6dup) c.1105-6dup (n.1105-6dup) c.925-6dup (n.925-6dup) c.862-6dup (n.862-6dup) c.706-6dup (n.706-6dup) c.637-6dup (n.637-6dup) | gnomAD v4 |
| 6 | g.33178193C= | CA1619899932 | COL11A2 | c.445+115G= c.1819-8G= (n.1819-8G=) c.1498-8G= (n.1498-8G=) c.1561-8G= (n.1561-8G=) c.973-8G= (n.973-8G=) c.1105-8G= (n.1105-8G=) c.925-8G= (n.925-8G=) c.862-8G= (n.862-8G=) c.706-8G= (n.706-8G=) c.637-8G= (n.637-8G=) | |
| 6 | g.33178193C>T | CA3751179 | COL11A2 | c.445+115G>A c.1819-8G>A (n.1819-8G>A) c.1498-8G>A (n.1498-8G>A) c.1561-8G>A (n.1561-8G>A) c.973-8G>A (n.973-8G>A) c.1105-8G>A (n.1105-8G>A) c.925-8G>A (n.925-8G>A) c.862-8G>A (n.862-8G>A) c.706-8G>A (n.706-8G>A) c.637-8G>A (n.637-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178193_33178203delinsCACGGTGAGGG | CA1619899933 | COL11A2 | c.445+105_445+115delinsCCCTCACCGTG c.1819-18_1819-8delinsCCCTCACCGTG (n.1819-18_1819-8delinsCCCTCACCGTG) c.1498-18_1498-8delinsCCCTCACCGTG (n.1498-18_1498-8delinsCCCTCACCGTG) c.1561-18_1561-8delinsCCCTCACCGTG (n.1561-18_1561-8delinsCCCTCACCGTG) c.973-18_973-8delinsCCCTCACCGTG (n.973-18_973-8delinsCCCTCACCGTG) c.1105-18_1105-8delinsCCCTCACCGTG (n.1105-18_1105-8delinsCCCTCACCGTG) c.925-18_925-8delinsCCCTCACCGTG (n.925-18_925-8delinsCCCTCACCGTG) c.862-18_862-8delinsCCCTCACCGTG (n.862-18_862-8delinsCCCTCACCGTG) c.706-18_706-8delinsCCCTCACCGTG (n.706-18_706-8delinsCCCTCACCGTG) c.637-18_637-8delinsCCCTCACCGTG (n.637-18_637-8delinsCCCTCACCGTG) | |
| 6 | g.33178194A= | CA1619899934 | COL11A2 | c.445+114T= c.1819-9T= (n.1819-9T=) c.1498-9T= (n.1498-9T=) c.1561-9T= (n.1561-9T=) c.973-9T= (n.973-9T=) c.1105-9T= (n.1105-9T=) c.925-9T= (n.925-9T=) c.862-9T= (n.862-9T=) c.706-9T= (n.706-9T=) c.637-9T= (n.637-9T=) | |
| 6 | g.33178194A>G | CA566698924 | COL11A2 | c.445+114T>C c.1819-9T>C (n.1819-9T>C) c.1498-9T>C (n.1498-9T>C) c.1561-9T>C (n.1561-9T>C) c.973-9T>C (n.973-9T>C) c.1105-9T>C (n.1105-9T>C) c.925-9T>C (n.925-9T>C) c.862-9T>C (n.862-9T>C) c.706-9T>C (n.706-9T>C) c.637-9T>C (n.637-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178194_33178203del | CA3751178 | COL11A2 | c.445+105_445+114del c.1819-18_1819-9del (n.1819-18_1819-9del) c.1498-18_1498-9del (n.1498-18_1498-9del) c.1561-18_1561-9del (n.1561-18_1561-9del) c.973-18_973-9del (n.973-18_973-9del) c.1105-18_1105-9del (n.1105-18_1105-9del) c.925-18_925-9del (n.925-18_925-9del) c.862-18_862-9del (n.862-18_862-9del) c.706-18_706-9del (n.706-18_706-9del) c.637-18_637-9del (n.637-18_637-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178195C= | CA1619899935 | COL11A2 | c.445+113G= c.1819-10G= (n.1819-10G=) c.1498-10G= (n.1498-10G=) c.1561-10G= (n.1561-10G=) c.973-10G= (n.973-10G=) c.1105-10G= (n.1105-10G=) c.925-10G= (n.925-10G=) c.862-10G= (n.862-10G=) c.706-10G= (n.706-10G=) c.637-10G= (n.637-10G=) | |
| 6 | g.33178195C>G | CA1619899936 | COL11A2 | c.445+113G>C c.1819-10G>C (n.1819-10G>C) c.1498-10G>C (n.1498-10G>C) c.1561-10G>C (n.1561-10G>C) c.973-10G>C (n.973-10G>C) c.1105-10G>C (n.1105-10G>C) c.925-10G>C (n.925-10G>C) c.862-10G>C (n.862-10G>C) c.706-10G>C (n.706-10G>C) c.637-10G>C (n.637-10G>C) | dbSNP |
| 6 | g.33178195C>T | CA3751180 | COL11A2 | c.445+113G>A c.1819-10G>A (n.1819-10G>A) c.1498-10G>A (n.1498-10G>A) c.1561-10G>A (n.1561-10G>A) c.973-10G>A (n.973-10G>A) c.1105-10G>A (n.1105-10G>A) c.925-10G>A (n.925-10G>A) c.862-10G>A (n.862-10G>A) c.706-10G>A (n.706-10G>A) c.637-10G>A (n.637-10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178195_33178204del | CA363656761 | COL11A2 | c.445+104_445+113del c.1819-19_1819-10del (n.1819-19_1819-10del) c.1498-19_1498-10del (n.1498-19_1498-10del) c.1561-19_1561-10del (n.1561-19_1561-10del) c.973-19_973-10del (n.973-19_973-10del) c.1105-19_1105-10del (n.1105-19_1105-10del) c.925-19_925-10del (n.925-19_925-10del) c.862-19_862-10del (n.862-19_862-10del) c.706-19_706-10del (n.706-19_706-10del) c.637-19_637-10del (n.637-19_637-10del) | |
| 6 | g.33178196G>A | CA3751181 | COL11A2 | c.445+112C>T c.1819-11C>T (n.1819-11C>T) c.1498-11C>T (n.1498-11C>T) c.1561-11C>T (n.1561-11C>T) c.973-11C>T (n.973-11C>T) c.1105-11C>T (n.1105-11C>T) c.925-11C>T (n.925-11C>T) c.862-11C>T (n.862-11C>T) c.706-11C>T (n.706-11C>T) c.637-11C>T (n.637-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178196G= | CA1619899937 | COL11A2 | c.445+112C= c.1819-11C= (n.1819-11C=) c.1498-11C= (n.1498-11C=) c.1561-11C= (n.1561-11C=) c.973-11C= (n.973-11C=) c.1105-11C= (n.1105-11C=) c.925-11C= (n.925-11C=) c.862-11C= (n.862-11C=) c.706-11C= (n.706-11C=) c.637-11C= (n.637-11C=) | |
| 6 | g.33178197G>A | CA3751182 | COL11A2 | c.445+111C>T c.1819-12C>T (n.1819-12C>T) c.1498-12C>T (n.1498-12C>T) c.1561-12C>T (n.1561-12C>T) c.973-12C>T (n.973-12C>T) c.1105-12C>T (n.1105-12C>T) c.925-12C>T (n.925-12C>T) c.862-12C>T (n.862-12C>T) c.706-12C>T (n.706-12C>T) c.637-12C>T (n.637-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33178197G= | CA1619899938 | COL11A2 | c.445+111C= c.1819-12C= (n.1819-12C=) c.1498-12C= (n.1498-12C=) c.1561-12C= (n.1561-12C=) c.973-12C= (n.973-12C=) c.1105-12C= (n.1105-12C=) c.925-12C= (n.925-12C=) c.862-12C= (n.862-12C=) c.706-12C= (n.706-12C=) c.637-12C= (n.637-12C=) | |
| 6 | g.33178197G>T | CA566698925 | COL11A2 | c.445+111C>A c.1819-12C>A (n.1819-12C>A) c.1498-12C>A (n.1498-12C>A) c.1561-12C>A (n.1561-12C>A) c.973-12C>A (n.973-12C>A) c.1105-12C>A (n.1105-12C>A) c.925-12C>A (n.925-12C>A) c.862-12C>A (n.862-12C>A) c.706-12C>A (n.706-12C>A) c.637-12C>A (n.637-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178199G>A | CA2578581899 | COL11A2 | c.445+109C>T c.1819-14C>T (n.1819-14C>T) c.1498-14C>T (n.1498-14C>T) c.1561-14C>T (n.1561-14C>T) c.973-14C>T (n.973-14C>T) c.1105-14C>T (n.1105-14C>T) c.925-14C>T (n.925-14C>T) c.862-14C>T (n.862-14C>T) c.706-14C>T (n.706-14C>T) c.637-14C>T (n.637-14C>T) | ClinVar gnomAD v4 |
| 6 | g.33178201G>A | CA2678219822 | COL11A2 | c.445+107C>T c.1819-16C>T (n.1819-16C>T) c.1498-16C>T (n.1498-16C>T) c.1561-16C>T (n.1561-16C>T) c.973-16C>T (n.973-16C>T) c.1105-16C>T (n.1105-16C>T) c.925-16C>T (n.925-16C>T) c.862-16C>T (n.862-16C>T) c.706-16C>T (n.706-16C>T) c.637-16C>T (n.637-16C>T) | gnomAD v4 |
| 6 | g.33178202G>T | CA2578581900 | COL11A2 | c.445+106C>A c.1819-17C>A (n.1819-17C>A) c.1498-17C>A (n.1498-17C>A) c.1561-17C>A (n.1561-17C>A) c.973-17C>A (n.973-17C>A) c.1105-17C>A (n.1105-17C>A) c.925-17C>A (n.925-17C>A) c.862-17C>A (n.862-17C>A) c.706-17C>A (n.706-17C>A) c.637-17C>A (n.637-17C>A) | |
| 6 | g.33178203G>A | CA2578581901 | COL11A2 | c.445+105C>T c.1819-18C>T (n.1819-18C>T) c.1498-18C>T (n.1498-18C>T) c.1561-18C>T (n.1561-18C>T) c.973-18C>T (n.973-18C>T) c.1105-18C>T (n.1105-18C>T) c.925-18C>T (n.925-18C>T) c.862-18C>T (n.862-18C>T) c.706-18C>T (n.706-18C>T) c.637-18C>T (n.637-18C>T) | |
| 6 | g.33178204G>A | CA2678219823 | COL11A2 | c.445+104C>T c.1819-19C>T (n.1819-19C>T) c.1498-19C>T (n.1498-19C>T) c.1561-19C>T (n.1561-19C>T) c.973-19C>T (n.973-19C>T) c.1105-19C>T (n.1105-19C>T) c.925-19C>T (n.925-19C>T) c.862-19C>T (n.862-19C>T) c.706-19C>T (n.706-19C>T) c.637-19C>T (n.637-19C>T) | gnomAD v4 |
| 6 | g.33178205A= | CA1619899939 | COL11A2 | c.445+103T= c.1819-20T= (n.1819-20T=) c.1498-20T= (n.1498-20T=) c.1561-20T= (n.1561-20T=) c.973-20T= (n.973-20T=) c.1105-20T= (n.1105-20T=) c.925-20T= (n.925-20T=) c.862-20T= (n.862-20T=) c.706-20T= (n.706-20T=) c.637-20T= (n.637-20T=) | |
| 6 | g.33178205A>C | CA2580074362 | COL11A2 | c.445+103T>G c.1819-20T>G (n.1819-20T>G) c.1498-20T>G (n.1498-20T>G) c.1561-20T>G (n.1561-20T>G) c.973-20T>G (n.973-20T>G) c.1105-20T>G (n.1105-20T>G) c.925-20T>G (n.925-20T>G) c.862-20T>G (n.862-20T>G) c.706-20T>G (n.706-20T>G) c.637-20T>G (n.637-20T>G) | ClinVar |
| 6 | g.33178205A>G | CA566698926 | COL11A2 | c.445+103T>C c.1819-20T>C (n.1819-20T>C) c.1498-20T>C (n.1498-20T>C) c.1561-20T>C (n.1561-20T>C) c.973-20T>C (n.973-20T>C) c.1105-20T>C (n.1105-20T>C) c.925-20T>C (n.925-20T>C) c.862-20T>C (n.862-20T>C) c.706-20T>C (n.706-20T>C) c.637-20T>C (n.637-20T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178206G>C | CA1619899940 | COL11A2 | c.445+102C>G c.1819-21C>G (n.1819-21C>G) c.1498-21C>G (n.1498-21C>G) c.1561-21C>G (n.1561-21C>G) c.973-21C>G (n.973-21C>G) c.1105-21C>G (n.1105-21C>G) c.925-21C>G (n.925-21C>G) c.862-21C>G (n.862-21C>G) c.706-21C>G (n.706-21C>G) c.637-21C>G (n.637-21C>G) | dbSNP gnomAD v4 |
| 6 | g.33178206G= | CA1619899941 | COL11A2 | c.445+102C= c.1819-21C= (n.1819-21C=) c.1498-21C= (n.1498-21C=) c.1561-21C= (n.1561-21C=) c.973-21C= (n.973-21C=) c.1105-21C= (n.1105-21C=) c.925-21C= (n.925-21C=) c.862-21C= (n.862-21C=) c.706-21C= (n.706-21C=) c.637-21C= (n.637-21C=) | |
| 6 | g.33178206_33178207del | CA2510268138 | COL11A2 | c.445+101_445+102del c.1819-22_1819-21del (n.1819-22_1819-21del) c.1498-22_1498-21del (n.1498-22_1498-21del) c.1561-22_1561-21del (n.1561-22_1561-21del) c.973-22_973-21del (n.973-22_973-21del) c.1105-22_1105-21del (n.1105-22_1105-21del) c.925-22_925-21del (n.925-22_925-21del) c.862-22_862-21del (n.862-22_862-21del) c.706-22_706-21del (n.706-22_706-21del) c.637-22_637-21del (n.637-22_637-21del) | |
| 6 | g.33178209G>A | CA1619899943 | COL11A2 | c.445+99C>T c.1819-24C>T (n.1819-24C>T) c.1498-24C>T (n.1498-24C>T) c.1561-24C>T (n.1561-24C>T) c.973-24C>T (n.973-24C>T) c.1105-24C>T (n.1105-24C>T) c.925-24C>T (n.925-24C>T) c.862-24C>T (n.862-24C>T) c.706-24C>T (n.706-24C>T) c.637-24C>T (n.637-24C>T) | dbSNP gnomAD v4 |
| 6 | g.33178209G>C | CA2678219826 | COL11A2 | c.445+99C>G c.1819-24C>G (n.1819-24C>G) c.1498-24C>G (n.1498-24C>G) c.1561-24C>G (n.1561-24C>G) c.973-24C>G (n.973-24C>G) c.1105-24C>G (n.1105-24C>G) c.925-24C>G (n.925-24C>G) c.862-24C>G (n.862-24C>G) c.706-24C>G (n.706-24C>G) c.637-24C>G (n.637-24C>G) | gnomAD v4 |
| 6 | g.33178209G= | CA1619899942 | COL11A2 | c.445+99C= c.1819-24C= (n.1819-24C=) c.1498-24C= (n.1498-24C=) c.1561-24C= (n.1561-24C=) c.973-24C= (n.973-24C=) c.1105-24C= (n.1105-24C=) c.925-24C= (n.925-24C=) c.862-24C= (n.862-24C=) c.706-24C= (n.706-24C=) c.637-24C= (n.637-24C=) | |
| 6 | g.33178211C>A | CA2678219827 | COL11A2 | c.445+97G>T c.1819-26G>T (n.1819-26G>T) c.1498-26G>T (n.1498-26G>T) c.1561-26G>T (n.1561-26G>T) c.973-26G>T (n.973-26G>T) c.1105-26G>T (n.1105-26G>T) c.925-26G>T (n.925-26G>T) c.862-26G>T (n.862-26G>T) c.706-26G>T (n.706-26G>T) c.637-26G>T (n.637-26G>T) | gnomAD v4 |
| 6 | g.33178211C= | CA1619899944 | COL11A2 | c.445+97G= c.1819-26G= (n.1819-26G=) c.1498-26G= (n.1498-26G=) c.1561-26G= (n.1561-26G=) c.973-26G= (n.973-26G=) c.1105-26G= (n.1105-26G=) c.925-26G= (n.925-26G=) c.862-26G= (n.862-26G=) c.706-26G= (n.706-26G=) c.637-26G= (n.637-26G=) | |
| 6 | g.33178211C>T | CA3751183 | COL11A2 | c.445+97G>A c.1819-26G>A (n.1819-26G>A) c.1498-26G>A (n.1498-26G>A) c.1561-26G>A (n.1561-26G>A) c.973-26G>A (n.973-26G>A) c.1105-26G>A (n.1105-26G>A) c.925-26G>A (n.925-26G>A) c.862-26G>A (n.862-26G>A) c.706-26G>A (n.706-26G>A) c.637-26G>A (n.637-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178212G>A | CA566698927 | COL11A2 | c.445+96C>T c.1819-27C>T (n.1819-27C>T) c.1498-27C>T (n.1498-27C>T) c.1561-27C>T (n.1561-27C>T) c.973-27C>T (n.973-27C>T) c.1105-27C>T (n.1105-27C>T) c.925-27C>T (n.925-27C>T) c.862-27C>T (n.862-27C>T) c.706-27C>T (n.706-27C>T) c.637-27C>T (n.637-27C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33178212G= | CA1619899945 | COL11A2 | c.445+96C= c.1819-27C= (n.1819-27C=) c.1498-27C= (n.1498-27C=) c.1561-27C= (n.1561-27C=) c.973-27C= (n.973-27C=) c.1105-27C= (n.1105-27C=) c.925-27C= (n.925-27C=) c.862-27C= (n.862-27C=) c.706-27C= (n.706-27C=) c.637-27C= (n.637-27C=) | |
| 6 | g.33178212G>T | CA2678219828 | COL11A2 | c.445+96C>A c.1819-27C>A (n.1819-27C>A) c.1498-27C>A (n.1498-27C>A) c.1561-27C>A (n.1561-27C>A) c.973-27C>A (n.973-27C>A) c.1105-27C>A (n.1105-27C>A) c.925-27C>A (n.925-27C>A) c.862-27C>A (n.862-27C>A) c.706-27C>A (n.706-27C>A) c.637-27C>A (n.637-27C>A) | gnomAD v4 |
| 6 | g.33178213_33178214insAC | CA2532425620 | COL11A2 | c.445+94_445+95insGT c.1819-29_1819-28insGT (n.1819-29_1819-28insGT) c.1498-29_1498-28insGT (n.1498-29_1498-28insGT) c.1561-29_1561-28insGT (n.1561-29_1561-28insGT) c.973-29_973-28insGT (n.973-29_973-28insGT) c.1105-29_1105-28insGT (n.1105-29_1105-28insGT) c.925-29_925-28insGT (n.925-29_925-28insGT) c.862-29_862-28insGT (n.862-29_862-28insGT) c.706-29_706-28insGT (n.706-29_706-28insGT) c.637-29_637-28insGT (n.637-29_637-28insGT) | |
| 6 | g.33178214C>A | CA1619899947 | COL11A2 | c.445+94G>T c.1819-29G>T (n.1819-29G>T) c.1498-29G>T (n.1498-29G>T) c.1561-29G>T (n.1561-29G>T) c.973-29G>T (n.973-29G>T) c.1105-29G>T (n.1105-29G>T) c.925-29G>T (n.925-29G>T) c.862-29G>T (n.862-29G>T) c.706-29G>T (n.706-29G>T) c.637-29G>T (n.637-29G>T) | dbSNP |
| 6 | g.33178214C= | CA1619899946 | COL11A2 | c.445+94G= c.1819-29G= (n.1819-29G=) c.1498-29G= (n.1498-29G=) c.1561-29G= (n.1561-29G=) c.973-29G= (n.973-29G=) c.1105-29G= (n.1105-29G=) c.925-29G= (n.925-29G=) c.862-29G= (n.862-29G=) c.706-29G= (n.706-29G=) c.637-29G= (n.637-29G=) | |
| 6 | g.33178214C>T | CA1619899948 | COL11A2 | c.445+94G>A c.1819-29G>A (n.1819-29G>A) c.1498-29G>A (n.1498-29G>A) c.1561-29G>A (n.1561-29G>A) c.973-29G>A (n.973-29G>A) c.1105-29G>A (n.1105-29G>A) c.925-29G>A (n.925-29G>A) c.862-29G>A (n.862-29G>A) c.706-29G>A (n.706-29G>A) c.637-29G>A (n.637-29G>A) | dbSNP |
| 6 | g.33178215A>G | CA2678219829 | COL11A2 | c.445+93T>C c.1819-30T>C (n.1819-30T>C) c.1498-30T>C (n.1498-30T>C) c.1561-30T>C (n.1561-30T>C) c.973-30T>C (n.973-30T>C) c.1105-30T>C (n.1105-30T>C) c.925-30T>C (n.925-30T>C) c.862-30T>C (n.862-30T>C) c.706-30T>C (n.706-30T>C) c.637-30T>C (n.637-30T>C) | gnomAD v4 |
| 6 | g.33178215_33178216insCGTAGG | CA2501028956 | COL11A2 | c.445+92_445+93insCCTACG c.1819-31_1819-30insCCTACG (n.1819-31_1819-30insCCTACG) c.1498-31_1498-30insCCTACG (n.1498-31_1498-30insCCTACG) c.1561-31_1561-30insCCTACG (n.1561-31_1561-30insCCTACG) c.973-31_973-30insCCTACG (n.973-31_973-30insCCTACG) c.1105-31_1105-30insCCTACG (n.1105-31_1105-30insCCTACG) c.925-31_925-30insCCTACG (n.925-31_925-30insCCTACG) c.862-31_862-30insCCTACG (n.862-31_862-30insCCTACG) c.706-31_706-30insCCTACG (n.706-31_706-30insCCTACG) c.637-31_637-30insCCTACG (n.637-31_637-30insCCTACG) | |
| 6 | g.33178217G>C | CA2678219830 | COL11A2 | c.445+91C>G c.1819-32C>G (n.1819-32C>G) c.1498-32C>G (n.1498-32C>G) c.1561-32C>G (n.1561-32C>G) c.973-32C>G (n.973-32C>G) c.1105-32C>G (n.1105-32C>G) c.925-32C>G (n.925-32C>G) c.862-32C>G (n.862-32C>G) c.706-32C>G (n.706-32C>G) c.637-32C>G (n.637-32C>G) | gnomAD v4 |
| 6 | g.33178218A= | CA1619899949 | COL11A2 | c.445+90T= c.1819-33T= (n.1819-33T=) c.1498-33T= (n.1498-33T=) c.1561-33T= (n.1561-33T=) c.973-33T= (n.973-33T=) c.1105-33T= (n.1105-33T=) c.925-33T= (n.925-33T=) c.862-33T= (n.862-33T=) c.706-33T= (n.706-33T=) c.637-33T= (n.637-33T=) | |
| 6 | g.33178218A>C | CA566698928 | COL11A2 | c.445+90T>G c.1819-33T>G (n.1819-33T>G) c.1498-33T>G (n.1498-33T>G) c.1561-33T>G (n.1561-33T>G) c.973-33T>G (n.973-33T>G) c.1105-33T>G (n.1105-33T>G) c.925-33T>G (n.925-33T>G) c.862-33T>G (n.862-33T>G) c.706-33T>G (n.706-33T>G) c.637-33T>G (n.637-33T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33178219A= | CA1619899950 | COL11A2 | c.445+89T= c.1819-34T= (n.1819-34T=) c.1498-34T= (n.1498-34T=) c.1561-34T= (n.1561-34T=) c.973-34T= (n.973-34T=) c.1105-34T= (n.1105-34T=) c.925-34T= (n.925-34T=) c.862-34T= (n.862-34T=) c.706-34T= (n.706-34T=) c.637-34T= (n.637-34T=) | |
| 6 | g.33178219A>C | CA566698929 | COL11A2 | c.445+89T>G c.1819-34T>G (n.1819-34T>G) c.1498-34T>G (n.1498-34T>G) c.1561-34T>G (n.1561-34T>G) c.973-34T>G (n.973-34T>G) c.1105-34T>G (n.1105-34T>G) c.925-34T>G (n.925-34T>G) c.862-34T>G (n.862-34T>G) c.706-34T>G (n.706-34T>G) c.637-34T>G (n.637-34T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178219A>G | CA2678219831 | COL11A2 | c.445+89T>C c.1819-34T>C (n.1819-34T>C) c.1498-34T>C (n.1498-34T>C) c.1561-34T>C (n.1561-34T>C) c.973-34T>C (n.973-34T>C) c.1105-34T>C (n.1105-34T>C) c.925-34T>C (n.925-34T>C) c.862-34T>C (n.862-34T>C) c.706-34T>C (n.706-34T>C) c.637-34T>C (n.637-34T>C) | gnomAD v4 |
| 6 | g.33178219_33178221del | CA2540224704 | COL11A2 | c.445+87_445+89del c.1819-36_1819-34del (n.1819-36_1819-34del) c.1498-36_1498-34del (n.1498-36_1498-34del) c.1561-36_1561-34del (n.1561-36_1561-34del) c.973-36_973-34del (n.973-36_973-34del) c.1105-36_1105-34del (n.1105-36_1105-34del) c.925-36_925-34del (n.925-36_925-34del) c.862-36_862-34del (n.862-36_862-34del) c.706-36_706-34del (n.706-36_706-34del) c.637-36_637-34del (n.637-36_637-34del) | |
| 6 | g.33178224T>G | CA2542205489 | COL11A2 | c.445+84A>C c.1819-39A>C (n.1819-39A>C) c.1498-39A>C (n.1498-39A>C) c.1561-39A>C (n.1561-39A>C) c.973-39A>C (n.973-39A>C) c.1105-39A>C (n.1105-39A>C) c.925-39A>C (n.925-39A>C) c.862-39A>C (n.862-39A>C) c.706-39A>C (n.706-39A>C) c.637-39A>C (n.637-39A>C) | |
| 6 | g.33178226_33178230del | CA2515991319 | COL11A2 | c.445+78_445+82del c.1819-45_1819-41del (n.1819-45_1819-41del) c.1498-45_1498-41del (n.1498-45_1498-41del) c.1561-45_1561-41del (n.1561-45_1561-41del) c.973-45_973-41del (n.973-45_973-41del) c.1105-45_1105-41del (n.1105-45_1105-41del) c.925-45_925-41del (n.925-45_925-41del) c.862-45_862-41del (n.862-45_862-41del) c.706-45_706-41del (n.706-45_706-41del) c.637-45_637-41del (n.637-45_637-41del) | |
| 6 | g.33178229C>T | CA2578581902 | COL11A2 | c.445+79G>A c.1819-44G>A (n.1819-44G>A) c.1498-44G>A (n.1498-44G>A) c.1561-44G>A (n.1561-44G>A) c.973-44G>A (n.973-44G>A) c.1105-44G>A (n.1105-44G>A) c.925-44G>A (n.925-44G>A) c.862-44G>A (n.862-44G>A) c.706-44G>A (n.706-44G>A) c.637-44G>A (n.637-44G>A) | |
| 6 | g.33178229_33178231delinsCTG | CA1619899951 | COL11A2 | c.445+77_445+79delinsCAG c.1819-46_1819-44delinsCAG (n.1819-46_1819-44delinsCAG) c.1498-46_1498-44delinsCAG (n.1498-46_1498-44delinsCAG) c.1561-46_1561-44delinsCAG (n.1561-46_1561-44delinsCAG) c.973-46_973-44delinsCAG (n.973-46_973-44delinsCAG) c.1105-46_1105-44delinsCAG (n.1105-46_1105-44delinsCAG) c.925-46_925-44delinsCAG (n.925-46_925-44delinsCAG) c.862-46_862-44delinsCAG (n.862-46_862-44delinsCAG) c.706-46_706-44delinsCAG (n.706-46_706-44delinsCAG) c.637-46_637-44delinsCAG (n.637-46_637-44delinsCAG) | |
| 6 | g.33178233_33178234del | CA566698930 | COL11A2 | c.445+77_445+78del c.1819-46_1819-45del (n.1819-46_1819-45del) c.1498-46_1498-45del (n.1498-46_1498-45del) c.1561-46_1561-45del (n.1561-46_1561-45del) c.973-46_973-45del (n.973-46_973-45del) c.1105-46_1105-45del (n.1105-46_1105-45del) c.925-46_925-45del (n.925-46_925-45del) c.862-46_862-45del (n.862-46_862-45del) c.706-46_706-45del (n.706-46_706-45del) c.637-46_637-45del (n.637-46_637-45del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33178232T>C | CA2572403500 | COL11A2 | c.445+76A>G c.1819-47A>G (n.1819-47A>G) c.1498-47A>G (n.1498-47A>G) c.1561-47A>G (n.1561-47A>G) c.973-47A>G (n.973-47A>G) c.1105-47A>G (n.1105-47A>G) c.925-47A>G (n.925-47A>G) c.862-47A>G (n.862-47A>G) c.706-47A>G (n.706-47A>G) c.637-47A>G (n.637-47A>G) | |
| 6 | g.33178233_33178234delinsGT | CA1619899952 | COL11A2 | c.445+74_445+75delinsAC c.1819-49_1819-48delinsAC (n.1819-49_1819-48delinsAC) c.1498-49_1498-48delinsAC (n.1498-49_1498-48delinsAC) c.1561-49_1561-48delinsAC (n.1561-49_1561-48delinsAC) c.973-49_973-48delinsAC (n.973-49_973-48delinsAC) c.1105-49_1105-48delinsAC (n.1105-49_1105-48delinsAC) c.925-49_925-48delinsAC (n.925-49_925-48delinsAC) c.862-49_862-48delinsAC (n.862-49_862-48delinsAC) c.706-49_706-48delinsAC (n.706-49_706-48delinsAC) c.637-49_637-48delinsAC (n.637-49_637-48delinsAC) | |
| 6 | g.33178233_33178234insCA | CA2542410869 | COL11A2 | c.445+74_445+75insTG c.1819-49_1819-48insTG (n.1819-49_1819-48insTG) c.1498-49_1498-48insTG (n.1498-49_1498-48insTG) c.1561-49_1561-48insTG (n.1561-49_1561-48insTG) c.973-49_973-48insTG (n.973-49_973-48insTG) c.1105-49_1105-48insTG (n.1105-49_1105-48insTG) c.925-49_925-48insTG (n.925-49_925-48insTG) c.862-49_862-48insTG (n.862-49_862-48insTG) c.706-49_706-48insTG (n.706-49_706-48insTG) c.637-49_637-48insTG (n.637-49_637-48insTG) | |
| 6 | g.33178234del | CA1619899953 | COL11A2 | c.445+74del c.1819-49del (n.1819-49del) c.1498-49del (n.1498-49del) c.1561-49del (n.1561-49del) c.973-49del (n.973-49del) c.1105-49del (n.1105-49del) c.925-49del (n.925-49del) c.862-49del (n.862-49del) c.706-49del (n.706-49del) c.637-49del (n.637-49del) | dbSNP |
| 6 | g.33178234T>C | CA1619899955 | COL11A2 | c.445+74A>G c.1819-49A>G (n.1819-49A>G) c.1498-49A>G (n.1498-49A>G) c.1561-49A>G (n.1561-49A>G) c.973-49A>G (n.973-49A>G) c.1105-49A>G (n.1105-49A>G) c.925-49A>G (n.925-49A>G) c.862-49A>G (n.862-49A>G) c.706-49A>G (n.706-49A>G) c.637-49A>G (n.637-49A>G) | dbSNP gnomAD v4 |
| 6 | g.33178234T= | CA1619899954 | COL11A2 | c.445+74A= c.1819-49A= (n.1819-49A=) c.1498-49A= (n.1498-49A=) c.1561-49A= (n.1561-49A=) c.973-49A= (n.973-49A=) c.1105-49A= (n.1105-49A=) c.925-49A= (n.925-49A=) c.862-49A= (n.862-49A=) c.706-49A= (n.706-49A=) c.637-49A= (n.637-49A=) | |
| 6 | g.33178235C>T | CA2578581903 | COL11A2 | c.445+73G>A c.1819-50G>A (n.1819-50G>A) c.1498-50G>A (n.1498-50G>A) c.1561-50G>A (n.1561-50G>A) c.973-50G>A (n.973-50G>A) c.1105-50G>A (n.1105-50G>A) c.925-50G>A (n.925-50G>A) c.862-50G>A (n.862-50G>A) c.706-50G>A (n.706-50G>A) c.637-50G>A (n.637-50G>A) | |
| 6 | g.33178240T>C | CA824035946 | COL11A2 | c.445+68A>G c.1819-55A>G (n.1819-55A>G) c.1498-55A>G (n.1498-55A>G) c.1561-55A>G (n.1561-55A>G) c.973-55A>G (n.973-55A>G) c.1105-55A>G (n.1105-55A>G) c.925-55A>G (n.925-55A>G) c.862-55A>G (n.862-55A>G) c.706-55A>G (n.706-55A>G) c.637-55A>G (n.637-55A>G) | dbSNP gnomAD v4 |
| 6 | g.33178240T= | CA1619899956 | COL11A2 | c.445+68A= c.1819-55A= (n.1819-55A=) c.1498-55A= (n.1498-55A=) c.1561-55A= (n.1561-55A=) c.973-55A= (n.973-55A=) c.1105-55A= (n.1105-55A=) c.925-55A= (n.925-55A=) c.862-55A= (n.862-55A=) c.706-55A= (n.706-55A=) c.637-55A= (n.637-55A=) |