Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47975511T>ACA384536894COL2A1c.3485A>T (p.Lys1162Met)
c.3692A>T (p.Lys1231Met)
n.2778A>T
n.545A>T
c.3836A>T (p.Lys1279Met)
c.3833A>T (p.Lys1278Met)
c.2780A>T (p.Lys927Met)
c.3626A>T (p.Lys1209Met)
c.3146A>T (p.Lys1049Met)
12g.47975511T>CCA384536895COL2A1c.3485A>G (p.Lys1162Arg)
c.3692A>G (p.Lys1231Arg)
n.2778A>G
n.545A>G
c.3836A>G (p.Lys1279Arg)
c.3833A>G (p.Lys1278Arg)
c.2780A>G (p.Lys927Arg)
c.3626A>G (p.Lys1209Arg)
c.3146A>G (p.Lys1049Arg)
 dbSNP
12g.47975511T>GCA384536896COL2A1c.3485A>C (p.Lys1162Thr)
c.3692A>C (p.Lys1231Thr)
n.2778A>C
n.545A>C
c.3836A>C (p.Lys1279Thr)
c.3833A>C (p.Lys1278Thr)
c.2780A>C (p.Lys927Thr)
c.3626A>C (p.Lys1209Thr)
c.3146A>C (p.Lys1049Thr)
12g.47975511T=CA2034474104COL2A1c.3485A= (p.Lys1162=)
c.3692A= (p.Lys1231=)
n.2778A=
n.545A=
c.3836A= (p.Lys1279=)
c.3833A= (p.Lys1278=)
c.2780A= (p.Lys927=)
c.3626A= (p.Lys1209=)
c.3146A= (p.Lys1049=)
12g.47975512T>ACA384536899COL2A1c.3484A>T (p.Lys1162Ter)
c.3691A>T (p.Lys1231Ter)
n.2777A>T
n.544A>T
c.3835A>T (p.Lys1279Ter)
c.3832A>T (p.Lys1278Ter)
c.2779A>T (p.Lys927Ter)
c.3625A>T (p.Lys1209Ter)
c.3145A>T (p.Lys1049Ter)
12g.47975512T>CCA384536898COL2A1c.3484A>G (p.Lys1162Glu)
c.3691A>G (p.Lys1231Glu)
n.2777A>G
n.544A>G
c.3835A>G (p.Lys1279Glu)
c.3832A>G (p.Lys1278Glu)
c.2779A>G (p.Lys927Glu)
c.3625A>G (p.Lys1209Glu)
c.3145A>G (p.Lys1049Glu)
12g.47975512T>GCA384536897COL2A1c.3484A>C (p.Lys1162Gln)
c.3691A>C (p.Lys1231Gln)
n.2777A>C
n.544A>C
c.3835A>C (p.Lys1279Gln)
c.3832A>C (p.Lys1278Gln)
c.2779A>C (p.Lys927Gln)
c.3625A>C (p.Lys1209Gln)
c.3145A>C (p.Lys1049Gln)
12g.47975513C>ACA384536900COL2A1c.3483G>T (p.Glu1161Asp)
c.3690G>T (p.Glu1230Asp)
n.2776G>T
n.543G>T
c.3834G>T (p.Glu1278Asp)
c.3831G>T (p.Glu1277Asp)
c.2778G>T (p.Glu926Asp)
c.3624G>T (p.Glu1208Asp)
c.3144G>T (p.Glu1048Asp)
12g.47975513C=CA2034474109COL2A1c.3483G= (p.Glu1161=)
c.3690G= (p.Glu1230=)
n.2776G=
n.543G=
c.3834G= (p.Glu1278=)
c.3831G= (p.Glu1277=)
c.2778G= (p.Glu926=)
c.3624G= (p.Glu1208=)
c.3144G= (p.Glu1048=)
12g.47975513C>GCA384536901COL2A1c.3483G>C (p.Glu1161Asp)
c.3690G>C (p.Glu1230Asp)
n.2776G>C
n.543G>C
c.3834G>C (p.Glu1278Asp)
c.3831G>C (p.Glu1277Asp)
c.2778G>C (p.Glu926Asp)
c.3624G>C (p.Glu1208Asp)
c.3144G>C (p.Glu1048Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975513C>TCA479696930COL2A1c.3483G>A (p.Glu1161=)
c.3690G>A (p.Glu1230=)
n.2776G>A
n.543G>A
c.3834G>A (p.Glu1278=)
c.3831G>A (p.Glu1277=)
c.2778G>A (p.Glu926=)
c.3624G>A (p.Glu1208=)
c.3144G>A (p.Glu1048=)
 gnomAD v4
12g.47975514T>ACA384536902COL2A1c.3482A>T (p.Glu1161Val)
c.3689A>T (p.Glu1230Val)
n.2775A>T
n.542A>T
c.3833A>T (p.Glu1278Val)
c.3830A>T (p.Glu1277Val)
c.2777A>T (p.Glu926Val)
c.3623A>T (p.Glu1208Val)
c.3143A>T (p.Glu1048Val)
12g.47975514T>CCA384536903COL2A1c.3482A>G (p.Glu1161Gly)
c.3689A>G (p.Glu1230Gly)
n.2775A>G
n.542A>G
c.3833A>G (p.Glu1278Gly)
c.3830A>G (p.Glu1277Gly)
c.2777A>G (p.Glu926Gly)
c.3623A>G (p.Glu1208Gly)
c.3143A>G (p.Glu1048Gly)
12g.47975514T>GCA384536904COL2A1c.3482A>C (p.Glu1161Ala)
c.3689A>C (p.Glu1230Ala)
n.2775A>C
n.542A>C
c.3833A>C (p.Glu1278Ala)
c.3830A>C (p.Glu1277Ala)
c.2777A>C (p.Glu926Ala)
c.3623A>C (p.Glu1208Ala)
c.3143A>C (p.Glu1048Ala)
12g.47975515C>ACA384536905COL2A1c.3481G>T (p.Glu1161Ter)
c.3688G>T (p.Glu1230Ter)
n.2774G>T
n.541G>T
c.3832G>T (p.Glu1278Ter)
c.3829G>T (p.Glu1277Ter)
c.2776G>T (p.Glu926Ter)
c.3622G>T (p.Glu1208Ter)
c.3142G>T (p.Glu1048Ter)
12g.47975515C=CA2034474114COL2A1c.3481G= (p.Glu1161=)
c.3688G= (p.Glu1230=)
n.2774G=
n.541G=
c.3832G= (p.Glu1278=)
c.3829G= (p.Glu1277=)
c.2776G= (p.Glu926=)
c.3622G= (p.Glu1208=)
c.3142G= (p.Glu1048=)
12g.47975515C>GCA384536906COL2A1c.3481G>C (p.Glu1161Gln)
c.3688G>C (p.Glu1230Gln)
n.2774G>C
n.541G>C
c.3832G>C (p.Glu1278Gln)
c.3829G>C (p.Glu1277Gln)
c.2776G>C (p.Glu926Gln)
c.3622G>C (p.Glu1208Gln)
c.3142G>C (p.Glu1048Gln)
12g.47975515C>TCA384536907COL2A1c.3481G>A (p.Glu1161Lys)
c.3688G>A (p.Glu1230Lys)
n.2774G>A
n.541G>A
c.3832G>A (p.Glu1278Lys)
c.3829G>A (p.Glu1277Lys)
c.2776G>A (p.Glu926Lys)
c.3622G>A (p.Glu1208Lys)
c.3142G>A (p.Glu1048Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47975516T>ACA384536908COL2A1c.3480A>T (p.Arg1160Ser)
c.3687A>T (p.Arg1229Ser)
n.2773A>T
n.540A>T
c.3831A>T (p.Arg1277Ser)
c.3828A>T (p.Arg1276Ser)
c.2775A>T (p.Arg925Ser)
c.3621A>T (p.Arg1207Ser)
c.3141A>T (p.Arg1047Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47975516T>CCA479696937COL2A1c.3480A>G (p.Arg1160=)
c.3687A>G (p.Arg1229=)
n.2773A>G
n.540A>G
c.3831A>G (p.Arg1277=)
c.3828A>G (p.Arg1276=)
c.2775A>G (p.Arg925=)
c.3621A>G (p.Arg1207=)
c.3141A>G (p.Arg1047=)
12g.47975516T>GCA384536909COL2A1c.3480A>C (p.Arg1160Ser)
c.3687A>C (p.Arg1229Ser)
n.2773A>C
n.540A>C
c.3831A>C (p.Arg1277Ser)
c.3828A>C (p.Arg1276Ser)
c.2775A>C (p.Arg925Ser)
c.3621A>C (p.Arg1207Ser)
c.3141A>C (p.Arg1047Ser)
12g.47975516T=CA2034474118COL2A1c.3480A= (p.Arg1160=)
c.3687A= (p.Arg1229=)
n.2773A=
n.540A=
c.3831A= (p.Arg1277=)
c.3828A= (p.Arg1276=)
c.2775A= (p.Arg925=)
c.3621A= (p.Arg1207=)
c.3141A= (p.Arg1047=)
12g.47975517C>ACA384536910COL2A1c.3479G>T (p.Arg1160Ile)
c.3686G>T (p.Arg1229Ile)
n.2772G>T
n.539G>T
c.3830G>T (p.Arg1277Ile)
c.3827G>T (p.Arg1276Ile)
c.2774G>T (p.Arg925Ile)
c.3620G>T (p.Arg1207Ile)
c.3140G>T (p.Arg1047Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.47975517C=CA2034474122COL2A1c.3479G= (p.Arg1160=)
c.3686G= (p.Arg1229=)
n.2772G=
n.539G=
c.3830G= (p.Arg1277=)
c.3827G= (p.Arg1276=)
c.2774G= (p.Arg925=)
c.3620G= (p.Arg1207=)
c.3140G= (p.Arg1047=)
12g.47975517C>GCA236517236COL2A1c.3479G>C (p.Arg1160Thr)
c.3686G>C (p.Arg1229Thr)
n.2772G>C
n.539G>C
c.3830G>C (p.Arg1277Thr)
c.3827G>C (p.Arg1276Thr)
c.2774G>C (p.Arg925Thr)
c.3620G>C (p.Arg1207Thr)
c.3140G>C (p.Arg1047Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975517C>TCA384536911COL2A1c.3479G>A (p.Arg1160Lys)
c.3686G>A (p.Arg1229Lys)
n.2772G>A
n.539G>A
c.3830G>A (p.Arg1277Lys)
c.3827G>A (p.Arg1276Lys)
c.2774G>A (p.Arg925Lys)
c.3620G>A (p.Arg1207Lys)
c.3140G>A (p.Arg1047Lys)
 gnomAD v4
12g.47975518T>ACA384536913COL2A1c.3478A>T (p.Arg1160Ter)
c.3685A>T (p.Arg1229Ter)
n.2771A>T
n.538A>T
c.3829A>T (p.Arg1277Ter)
c.3826A>T (p.Arg1276Ter)
c.2773A>T (p.Arg925Ter)
c.3619A>T (p.Arg1207Ter)
c.3139A>T (p.Arg1047Ter)
12g.47975518T>CCA384536912COL2A1c.3478A>G (p.Arg1160Gly)
c.3685A>G (p.Arg1229Gly)
n.2771A>G
n.538A>G
c.3829A>G (p.Arg1277Gly)
c.3826A>G (p.Arg1276Gly)
c.2773A>G (p.Arg925Gly)
c.3619A>G (p.Arg1207Gly)
c.3139A>G (p.Arg1047Gly)
12g.47975518T>GCA479696941COL2A1c.3478A>C (p.Arg1160=)
c.3685A>C (p.Arg1229=)
n.2771A>C
n.538A>C
c.3829A>C (p.Arg1277=)
c.3826A>C (p.Arg1276=)
c.2773A>C (p.Arg925=)
c.3619A>C (p.Arg1207=)
c.3139A>C (p.Arg1047=)
12g.47975518dupCA2839358226COL2A1c.3478dup (p.Arg1160LysfsTer24)
c.3685dup (p.Arg1229LysfsTer24)
n.2771dup
n.538dup
c.3829dup (p.Arg1277LysfsTer24)
c.3826dup (p.Arg1276LysfsTer24)
c.2773dup (p.Arg925LysfsTer24)
c.3619dup (p.Arg1207LysfsTer24)
c.3139dup (p.Arg1047LysfsTer24)
12g.47975519C>ACA479696943COL2A1c.3477G>T (p.Pro1159=)
c.3684G>T (p.Pro1228=)
n.2770G>T
n.537G>T
c.3828G>T (p.Pro1276=)
c.3825G>T (p.Pro1275=)
c.2772G>T (p.Pro924=)
c.3618G>T (p.Pro1206=)
c.3138G>T (p.Pro1046=)
12g.47975519C=CA2034474124COL2A1c.3477G= (p.Pro1159=)
c.3684G= (p.Pro1228=)
n.2770G=
n.537G=
c.3828G= (p.Pro1276=)
c.3825G= (p.Pro1275=)
c.2772G= (p.Pro924=)
c.3618G= (p.Pro1206=)
c.3138G= (p.Pro1046=)
12g.47975519C>GCA479696944COL2A1c.3477G>C (p.Pro1159=)
c.3684G>C (p.Pro1228=)
n.2770G>C
n.537G>C
c.3828G>C (p.Pro1276=)
c.3825G>C (p.Pro1275=)
c.2772G>C (p.Pro924=)
c.3618G>C (p.Pro1206=)
c.3138G>C (p.Pro1046=)
12g.47975519C>TCA6534667COL2A1c.3477G>A (p.Pro1159=)
c.3684G>A (p.Pro1228=)
n.2770G>A
n.537G>A
c.3828G>A (p.Pro1276=)
c.3825G>A (p.Pro1275=)
c.2772G>A (p.Pro924=)
c.3618G>A (p.Pro1206=)
c.3138G>A (p.Pro1046=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975520G>ACA6534668COL2A1c.3476C>T (p.Pro1159Leu)
c.3683C>T (p.Pro1228Leu)
n.2769C>T
n.536C>T
c.3827C>T (p.Pro1276Leu)
c.3824C>T (p.Pro1275Leu)
c.2771C>T (p.Pro924Leu)
c.3617C>T (p.Pro1206Leu)
c.3137C>T (p.Pro1046Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975520G>CCA6534669COL2A1c.3476C>G (p.Pro1159Arg)
c.3683C>G (p.Pro1228Arg)
n.2769C>G
n.536C>G
c.3827C>G (p.Pro1276Arg)
c.3824C>G (p.Pro1275Arg)
c.2771C>G (p.Pro924Arg)
c.3617C>G (p.Pro1206Arg)
c.3137C>G (p.Pro1046Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975520G=CA2034474127COL2A1c.3476C= (p.Pro1159=)
c.3683C= (p.Pro1228=)
n.2769C=
n.536C=
c.3827C= (p.Pro1276=)
c.3824C= (p.Pro1275=)
c.2771C= (p.Pro924=)
c.3617C= (p.Pro1206=)
c.3137C= (p.Pro1046=)
12g.47975520G>TCA384536914COL2A1c.3476C>A (p.Pro1159Gln)
c.3683C>A (p.Pro1228Gln)
n.2769C>A
n.536C>A
c.3827C>A (p.Pro1276Gln)
c.3824C>A (p.Pro1275Gln)
c.2771C>A (p.Pro924Gln)
c.3617C>A (p.Pro1206Gln)
c.3137C>A (p.Pro1046Gln)
 gnomAD v4
12g.47975522dupCA2838415833COL2A1c.3476dup (p.Arg1160GlufsTer24)
c.3683dup (p.Arg1229GlufsTer24)
n.2769dup
n.536dup
c.3827dup (p.Arg1277GlufsTer24)
c.3824dup (p.Arg1276GlufsTer24)
c.2771dup (p.Arg925GlufsTer24)
c.3617dup (p.Arg1207GlufsTer24)
c.3137dup (p.Arg1047GlufsTer24)
12g.47975522delCA2618506764COL2A1c.3476del (p.Pro1159ArgfsTer21)
c.3683del (p.Pro1228ArgfsTer21)
n.2769del
n.536del
c.3827del (p.Pro1276ArgfsTer21)
c.3824del (p.Pro1275ArgfsTer21)
c.2771del (p.Pro924ArgfsTer21)
c.3617del (p.Pro1206ArgfsTer21)
c.3137del (p.Pro1046ArgfsTer21)
 gnomAD v4
12g.47975521G>ACA384536916COL2A1c.3475C>T (p.Pro1159Ser)
c.3682C>T (p.Pro1228Ser)
n.2768C>T
n.535C>T
c.3826C>T (p.Pro1276Ser)
c.3823C>T (p.Pro1275Ser)
c.2770C>T (p.Pro924Ser)
c.3616C>T (p.Pro1206Ser)
c.3136C>T (p.Pro1046Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.47975521G>CCA384536918COL2A1c.3475C>G (p.Pro1159Ala)
c.3682C>G (p.Pro1228Ala)
n.2768C>G
n.535C>G
c.3826C>G (p.Pro1276Ala)
c.3823C>G (p.Pro1275Ala)
c.2770C>G (p.Pro924Ala)
c.3616C>G (p.Pro1206Ala)
c.3136C>G (p.Pro1046Ala)
12g.47975521G=CA2034474134COL2A1c.3475C= (p.Pro1159=)
c.3682C= (p.Pro1228=)
n.2768C=
n.535C=
c.3826C= (p.Pro1276=)
c.3823C= (p.Pro1275=)
c.2770C= (p.Pro924=)
c.3616C= (p.Pro1206=)
c.3136C= (p.Pro1046=)
12g.47975521G>TCA384536919COL2A1c.3475C>A (p.Pro1159Thr)
c.3682C>A (p.Pro1228Thr)
n.2768C>A
n.535C>A
c.3826C>A (p.Pro1276Thr)
c.3823C>A (p.Pro1275Thr)
c.2770C>A (p.Pro924Thr)
c.3616C>A (p.Pro1206Thr)
c.3136C>A (p.Pro1046Thr)
12g.47975522G>ACA479696947COL2A1c.3474C>T (p.Gly1158=)
c.3681C>T (p.Gly1227=)
n.2767C>T
n.534C>T
c.3825C>T (p.Gly1275=)
c.3822C>T (p.Gly1274=)
c.2769C>T (p.Gly923=)
c.3615C>T (p.Gly1205=)
c.3135C>T (p.Gly1045=)
 gnomAD v4
12g.47975522G>CCA479696948COL2A1c.3474C>G (p.Gly1158=)
c.3681C>G (p.Gly1227=)
n.2767C>G
n.534C>G
c.3825C>G (p.Gly1275=)
c.3822C>G (p.Gly1274=)
c.2769C>G (p.Gly923=)
c.3615C>G (p.Gly1205=)
c.3135C>G (p.Gly1045=)
12g.47975522G>TCA479696949COL2A1c.3474C>A (p.Gly1158=)
c.3681C>A (p.Gly1227=)
n.2767C>A
n.534C>A
c.3825C>A (p.Gly1275=)
c.3822C>A (p.Gly1274=)
c.2769C>A (p.Gly923=)
c.3615C>A (p.Gly1205=)
c.3135C>A (p.Gly1045=)
 gnomAD v4
12g.47975523C>ACA384536925COL2A1c.3473G>T (p.Gly1158Val)
c.3680G>T (p.Gly1227Val)
n.2766G>T
n.533G>T
c.3824G>T (p.Gly1275Val)
c.3821G>T (p.Gly1274Val)
c.2768G>T (p.Gly923Val)
c.3614G>T (p.Gly1205Val)
c.3134G>T (p.Gly1045Val)
12g.47975523C>GCA384536921COL2A1c.3473G>C (p.Gly1158Ala)
c.3680G>C (p.Gly1227Ala)
n.2766G>C
n.533G>C
c.3824G>C (p.Gly1275Ala)
c.3821G>C (p.Gly1274Ala)
c.2768G>C (p.Gly923Ala)
c.3614G>C (p.Gly1205Ala)
c.3134G>C (p.Gly1045Ala)
 gnomAD v4
12g.47975523C>TCA384536923COL2A1c.3473G>A (p.Gly1158Asp)
c.3680G>A (p.Gly1227Asp)
n.2766G>A
n.533G>A
c.3824G>A (p.Gly1275Asp)
c.3821G>A (p.Gly1274Asp)
c.2768G>A (p.Gly923Asp)
c.3614G>A (p.Gly1205Asp)
c.3134G>A (p.Gly1045Asp)
12g.47975524C>ACA384536927COL2A1c.3472G>T (p.Gly1158Cys)
c.3679G>T (p.Gly1227Cys)
n.2765G>T
n.532G>T
c.3823G>T (p.Gly1275Cys)
c.3820G>T (p.Gly1274Cys)
c.2767G>T (p.Gly923Cys)
c.3613G>T (p.Gly1205Cys)
c.3133G>T (p.Gly1045Cys)
12g.47975524C=CA2034474139COL2A1c.3472G= (p.Gly1158=)
c.3679G= (p.Gly1227=)
n.2765G=
n.532G=
c.3823G= (p.Gly1275=)
c.3820G= (p.Gly1274=)
c.2767G= (p.Gly923=)
c.3613G= (p.Gly1205=)
c.3133G= (p.Gly1045=)
12g.47975524C>GCA384536929COL2A1c.3472G>C (p.Gly1158Arg)
c.3679G>C (p.Gly1227Arg)
n.2765G>C
n.532G>C
c.3823G>C (p.Gly1275Arg)
c.3820G>C (p.Gly1274Arg)
c.2767G>C (p.Gly923Arg)
c.3613G>C (p.Gly1205Arg)
c.3133G>C (p.Gly1045Arg)
12g.47975524C>TCA384536931COL2A1c.3472G>A (p.Gly1158Ser)
c.3679G>A (p.Gly1227Ser)
n.2765G>A
n.532G>A
c.3823G>A (p.Gly1275Ser)
c.3820G>A (p.Gly1274Ser)
c.2767G>A (p.Gly923Ser)
c.3613G>A (p.Gly1205Ser)
c.3133G>A (p.Gly1045Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47975525T>ACA384536933COL2A1c.3471A>T (p.Leu1157Phe)
c.3678A>T (p.Leu1226Phe)
n.2764A>T
n.531A>T
c.3822A>T (p.Leu1274Phe)
c.3819A>T (p.Leu1273Phe)
c.2766A>T (p.Leu922Phe)
c.3612A>T (p.Leu1204Phe)
c.3132A>T (p.Leu1044Phe)
12g.47975525T>CCA479696952COL2A1c.3471A>G (p.Leu1157=)
c.3678A>G (p.Leu1226=)
n.2764A>G
n.531A>G
c.3822A>G (p.Leu1274=)
c.3819A>G (p.Leu1273=)
c.2766A>G (p.Leu922=)
c.3612A>G (p.Leu1204=)
c.3132A>G (p.Leu1044=)
 gnomAD v4
12g.47975525T>GCA384536934COL2A1c.3471A>C (p.Leu1157Phe)
c.3678A>C (p.Leu1226Phe)
n.2764A>C
n.531A>C
c.3822A>C (p.Leu1274Phe)
c.3819A>C (p.Leu1273Phe)
c.2766A>C (p.Leu922Phe)
c.3612A>C (p.Leu1204Phe)
c.3132A>C (p.Leu1044Phe)
12g.47975526A>CCA384536936COL2A1c.3470T>G (p.Leu1157Ter)
c.3677T>G (p.Leu1226Ter)
n.2763T>G
n.530T>G
c.3821T>G (p.Leu1274Ter)
c.3818T>G (p.Leu1273Ter)
c.2765T>G (p.Leu922Ter)
c.3611T>G (p.Leu1204Ter)
c.3131T>G (p.Leu1044Ter)
12g.47975526A>GCA384536939COL2A1c.3470T>C (p.Leu1157Ser)
c.3677T>C (p.Leu1226Ser)
n.2763T>C
n.530T>C
c.3821T>C (p.Leu1274Ser)
c.3818T>C (p.Leu1273Ser)
c.2765T>C (p.Leu922Ser)
c.3611T>C (p.Leu1204Ser)
c.3131T>C (p.Leu1044Ser)
12g.47975526A>TCA384536937COL2A1c.3470T>A (p.Leu1157Ter)
c.3677T>A (p.Leu1226Ter)
n.2763T>A
n.530T>A
c.3821T>A (p.Leu1274Ter)
c.3818T>A (p.Leu1273Ter)
c.2765T>A (p.Leu922Ter)
c.3611T>A (p.Leu1204Ter)
c.3131T>A (p.Leu1044Ter)
12g.47975527A>CCA384536942COL2A1c.3469T>G (p.Leu1157Val)
c.3676T>G (p.Leu1226Val)
n.2762T>G
n.529T>G
c.3820T>G (p.Leu1274Val)
c.3817T>G (p.Leu1273Val)
c.2764T>G (p.Leu922Val)
c.3610T>G (p.Leu1204Val)
c.3130T>G (p.Leu1044Val)
12g.47975527A>GCA479696958COL2A1c.3469T>C (p.Leu1157=)
c.3676T>C (p.Leu1226=)
n.2762T>C
n.529T>C
c.3820T>C (p.Leu1274=)
c.3817T>C (p.Leu1273=)
c.2764T>C (p.Leu922=)
c.3610T>C (p.Leu1204=)
c.3130T>C (p.Leu1044=)
12g.47975527A>TCA384536943COL2A1c.3469T>A (p.Leu1157Ile)
c.3676T>A (p.Leu1226Ile)
n.2762T>A
n.529T>A
c.3820T>A (p.Leu1274Ile)
c.3817T>A (p.Leu1273Ile)
c.2764T>A (p.Leu922Ile)
c.3610T>A (p.Leu1204Ile)
c.3130T>A (p.Leu1044Ile)
 ClinVar dbSNP gnomAD v4
12g.47975528G>ACA6534670COL2A1c.3468C>T (p.Gly1156=)
c.3675C>T (p.Gly1225=)
n.2761C>T
n.528C>T
c.3819C>T (p.Gly1273=)
c.3816C>T (p.Gly1272=)
c.2763C>T (p.Gly921=)
c.3609C>T (p.Gly1203=)
c.3129C>T (p.Gly1043=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975528G>CCA479696959COL2A1c.3468C>G (p.Gly1156=)
c.3675C>G (p.Gly1225=)
n.2761C>G
n.528C>G
c.3819C>G (p.Gly1273=)
c.3816C>G (p.Gly1272=)
c.2763C>G (p.Gly921=)
c.3609C>G (p.Gly1203=)
c.3129C>G (p.Gly1043=)
 gnomAD v3 gnomAD v4
12g.47975528G=CA2034474142COL2A1c.3468C= (p.Gly1156=)
c.3675C= (p.Gly1225=)
n.2761C=
n.528C=
c.3819C= (p.Gly1273=)
c.3816C= (p.Gly1272=)
c.2763C= (p.Gly921=)
c.3609C= (p.Gly1203=)
c.3129C= (p.Gly1043=)
12g.47975528G>TCA479696960COL2A1c.3468C>A (p.Gly1156=)
c.3675C>A (p.Gly1225=)
n.2761C>A
n.528C>A
c.3819C>A (p.Gly1273=)
c.3816C>A (p.Gly1272=)
c.2763C>A (p.Gly921=)
c.3609C>A (p.Gly1203=)
c.3129C>A (p.Gly1043=)
 gnomAD v4
12g.47975529C>ACA384536947COL2A1c.3467G>T (p.Gly1156Val)
c.3674G>T (p.Gly1225Val)
n.2760G>T
n.527G>T
c.3818G>T (p.Gly1273Val)
c.3815G>T (p.Gly1272Val)
c.2762G>T (p.Gly921Val)
c.3608G>T (p.Gly1203Val)
c.3128G>T (p.Gly1043Val)
12g.47975529C>GCA384536949COL2A1c.3467G>C (p.Gly1156Ala)
c.3674G>C (p.Gly1225Ala)
n.2760G>C
n.527G>C
c.3818G>C (p.Gly1273Ala)
c.3815G>C (p.Gly1272Ala)
c.2762G>C (p.Gly921Ala)
c.3608G>C (p.Gly1203Ala)
c.3128G>C (p.Gly1043Ala)
 gnomAD v4
12g.47975529C>TCA384536951COL2A1c.3467G>A (p.Gly1156Asp)
c.3674G>A (p.Gly1225Asp)
n.2760G>A
n.527G>A
c.3818G>A (p.Gly1273Asp)
c.3815G>A (p.Gly1272Asp)
c.2762G>A (p.Gly921Asp)
c.3608G>A (p.Gly1203Asp)
c.3128G>A (p.Gly1043Asp)
12g.47975530C>ACA384536953COL2A1c.3466G>T (p.Gly1156Cys)
c.3673G>T (p.Gly1225Cys)
n.2759G>T
n.526G>T
c.3817G>T (p.Gly1273Cys)
c.3814G>T (p.Gly1272Cys)
c.2761G>T (p.Gly921Cys)
c.3607G>T (p.Gly1203Cys)
c.3127G>T (p.Gly1043Cys)
12g.47975530C>GCA384536955COL2A1c.3466G>C (p.Gly1156Arg)
c.3673G>C (p.Gly1225Arg)
n.2759G>C
n.526G>C
c.3817G>C (p.Gly1273Arg)
c.3814G>C (p.Gly1272Arg)
c.2761G>C (p.Gly921Arg)
c.3607G>C (p.Gly1203Arg)
c.3127G>C (p.Gly1043Arg)
12g.47975530C>TCA384536957COL2A1c.3466G>A (p.Gly1156Ser)
c.3673G>A (p.Gly1225Ser)
n.2759G>A
n.526G>A
c.3817G>A (p.Gly1273Ser)
c.3814G>A (p.Gly1272Ser)
c.2761G>A (p.Gly921Ser)
c.3607G>A (p.Gly1203Ser)
c.3127G>A (p.Gly1043Ser)
 gnomAD v4
12g.47975531A>CCA479696963COL2A1c.3465T>G (p.Ala1155=)
c.3672T>G (p.Ala1224=)
n.2758T>G
n.525T>G
c.3816T>G (p.Ala1272=)
c.3813T>G (p.Ala1271=)
c.2760T>G (p.Ala920=)
c.3606T>G (p.Ala1202=)
c.3126T>G (p.Ala1042=)
12g.47975531A>GCA479696964COL2A1c.3465T>C (p.Ala1155=)
c.3672T>C (p.Ala1224=)
n.2758T>C
n.525T>C
c.3816T>C (p.Ala1272=)
c.3813T>C (p.Ala1271=)
c.2760T>C (p.Ala920=)
c.3606T>C (p.Ala1202=)
c.3126T>C (p.Ala1042=)
12g.47975531A>TCA479696965COL2A1c.3465T>A (p.Ala1155=)
c.3672T>A (p.Ala1224=)
n.2758T>A
n.525T>A
c.3816T>A (p.Ala1272=)
c.3813T>A (p.Ala1271=)
c.2760T>A (p.Ala920=)
c.3606T>A (p.Ala1202=)
c.3126T>A (p.Ala1042=)
12g.47975532G>ACA384536959COL2A1c.3464C>T (p.Ala1155Val)
c.3671C>T (p.Ala1224Val)
n.2757C>T
n.524C>T
c.3815C>T (p.Ala1272Val)
c.3812C>T (p.Ala1271Val)
c.2759C>T (p.Ala920Val)
c.3605C>T (p.Ala1202Val)
c.3125C>T (p.Ala1042Val)
12g.47975532G>CCA384536961COL2A1c.3464C>G (p.Ala1155Gly)
c.3671C>G (p.Ala1224Gly)
n.2757C>G
n.524C>G
c.3815C>G (p.Ala1272Gly)
c.3812C>G (p.Ala1271Gly)
c.2759C>G (p.Ala920Gly)
c.3605C>G (p.Ala1202Gly)
c.3125C>G (p.Ala1042Gly)
12g.47975532G>TCA384536962COL2A1c.3464C>A (p.Ala1155Asp)
c.3671C>A (p.Ala1224Asp)
n.2757C>A
n.524C>A
c.3815C>A (p.Ala1272Asp)
c.3812C>A (p.Ala1271Asp)
c.2759C>A (p.Ala920Asp)
c.3605C>A (p.Ala1202Asp)
c.3125C>A (p.Ala1042Asp)
12g.47975533C>ACA384536965COL2A1c.3463G>T (p.Ala1155Ser)
c.3670G>T (p.Ala1224Ser)
n.2756G>T
n.523G>T
c.3814G>T (p.Ala1272Ser)
c.3811G>T (p.Ala1271Ser)
c.2758G>T (p.Ala920Ser)
c.3604G>T (p.Ala1202Ser)
c.3124G>T (p.Ala1042Ser)
 gnomAD v4
12g.47975533C>GCA384536968COL2A1c.3463G>C (p.Ala1155Pro)
c.3670G>C (p.Ala1224Pro)
n.2756G>C
n.523G>C
c.3814G>C (p.Ala1272Pro)
c.3811G>C (p.Ala1271Pro)
c.2758G>C (p.Ala920Pro)
c.3604G>C (p.Ala1202Pro)
c.3124G>C (p.Ala1042Pro)
12g.47975533C>TCA384536967COL2A1c.3463G>A (p.Ala1155Thr)
c.3670G>A (p.Ala1224Thr)
n.2756G>A
n.523G>A
c.3814G>A (p.Ala1272Thr)
c.3811G>A (p.Ala1271Thr)
c.2758G>A (p.Ala920Thr)
c.3604G>A (p.Ala1202Thr)
c.3124G>A (p.Ala1042Thr)
 gnomAD v4
12g.47975534A>CCA384536971COL2A1c.3462T>G (p.Phe1154Leu)
c.3669T>G (p.Phe1223Leu)
n.2755T>G
n.522T>G
c.3813T>G (p.Phe1271Leu)
c.3810T>G (p.Phe1270Leu)
c.2757T>G (p.Phe919Leu)
c.3603T>G (p.Phe1201Leu)
c.3123T>G (p.Phe1041Leu)
12g.47975534A>GCA479696968COL2A1c.3462T>C (p.Phe1154=)
c.3669T>C (p.Phe1223=)
n.2755T>C
n.522T>C
c.3813T>C (p.Phe1271=)
c.3810T>C (p.Phe1270=)
c.2757T>C (p.Phe919=)
c.3603T>C (p.Phe1201=)
c.3123T>C (p.Phe1041=)
12g.47975534A>TCA384536973COL2A1c.3462T>A (p.Phe1154Leu)
c.3669T>A (p.Phe1223Leu)
n.2755T>A
n.522T>A
c.3813T>A (p.Phe1271Leu)
c.3810T>A (p.Phe1270Leu)
c.2757T>A (p.Phe919Leu)
c.3603T>A (p.Phe1201Leu)
c.3123T>A (p.Phe1041Leu)
12g.47975536delCA2840841025COL2A1c.3462del (p.Phe1154LeufsTer4)
c.3669del (p.Phe1223LeufsTer4)
n.2755del
n.522del
c.3813del (p.Phe1271LeufsTer4)
c.3810del (p.Phe1270LeufsTer4)
c.2757del (p.Phe919LeufsTer4)
c.3603del (p.Phe1201LeufsTer4)
c.3123del (p.Phe1041LeufsTer4)
12g.47975535A>CCA384536975COL2A1c.3461T>G (p.Phe1154Cys)
c.3668T>G (p.Phe1223Cys)
n.2754T>G
n.521T>G
c.3812T>G (p.Phe1271Cys)
c.3809T>G (p.Phe1270Cys)
c.2756T>G (p.Phe919Cys)
c.3602T>G (p.Phe1201Cys)
c.3122T>G (p.Phe1041Cys)
12g.47975535A>GCA384536977COL2A1c.3461T>C (p.Phe1154Ser)
c.3668T>C (p.Phe1223Ser)
n.2754T>C
n.521T>C
c.3812T>C (p.Phe1271Ser)
c.3809T>C (p.Phe1270Ser)
c.2756T>C (p.Phe919Ser)
c.3602T>C (p.Phe1201Ser)
c.3122T>C (p.Phe1041Ser)
 gnomAD v4
12g.47975535A>TCA384536978COL2A1c.3461T>A (p.Phe1154Tyr)
c.3668T>A (p.Phe1223Tyr)
n.2754T>A
n.521T>A
c.3812T>A (p.Phe1271Tyr)
c.3809T>A (p.Phe1270Tyr)
c.2756T>A (p.Phe919Tyr)
c.3602T>A (p.Phe1201Tyr)
c.3122T>A (p.Phe1041Tyr)
12g.47975536A>CCA384536980COL2A1c.3460T>G (p.Phe1154Val)
c.3667T>G (p.Phe1223Val)
n.2753T>G
n.520T>G
c.3811T>G (p.Phe1271Val)
c.3808T>G (p.Phe1270Val)
c.2755T>G (p.Phe919Val)
c.3601T>G (p.Phe1201Val)
c.3121T>G (p.Phe1041Val)
12g.47975536A>GCA384536981COL2A1c.3460T>C (p.Phe1154Leu)
c.3667T>C (p.Phe1223Leu)
n.2753T>C
n.520T>C
c.3811T>C (p.Phe1271Leu)
c.3808T>C (p.Phe1270Leu)
c.2755T>C (p.Phe919Leu)
c.3601T>C (p.Phe1201Leu)
c.3121T>C (p.Phe1041Leu)
12g.47975536A>TCA384536983COL2A1c.3460T>A (p.Phe1154Ile)
c.3667T>A (p.Phe1223Ile)
n.2753T>A
n.520T>A
c.3811T>A (p.Phe1271Ile)
c.3808T>A (p.Phe1270Ile)
c.2755T>A (p.Phe919Ile)
c.3601T>A (p.Phe1201Ile)
c.3121T>A (p.Phe1041Ile)
12g.47975537G>ACA479696969COL2A1c.3459C>T (p.Ala1153=)
c.3666C>T (p.Ala1222=)
n.2752C>T
n.519C>T
c.3810C>T (p.Ala1270=)
c.3807C>T (p.Ala1269=)
c.2754C>T (p.Ala918=)
c.3600C>T (p.Ala1200=)
c.3120C>T (p.Ala1040=)
 gnomAD v4
12g.47975537G>CCA479696970COL2A1c.3459C>G (p.Ala1153=)
c.3666C>G (p.Ala1222=)
n.2752C>G
n.519C>G
c.3810C>G (p.Ala1270=)
c.3807C>G (p.Ala1269=)
c.2754C>G (p.Ala918=)
c.3600C>G (p.Ala1200=)
c.3120C>G (p.Ala1040=)
12g.47975537G>TCA479696972COL2A1c.3459C>A (p.Ala1153=)
c.3666C>A (p.Ala1222=)
n.2752C>A
n.519C>A
c.3810C>A (p.Ala1270=)
c.3807C>A (p.Ala1269=)
c.2754C>A (p.Ala918=)
c.3600C>A (p.Ala1200=)
c.3120C>A (p.Ala1040=)
 gnomAD v4
12g.47975538G>ACA384536984COL2A1c.3458C>T (p.Ala1153Val)
c.3665C>T (p.Ala1222Val)
n.2751C>T
n.518C>T
c.3809C>T (p.Ala1270Val)
c.3806C>T (p.Ala1269Val)
c.2753C>T (p.Ala918Val)
c.3599C>T (p.Ala1200Val)
c.3119C>T (p.Ala1040Val)
 gnomAD v4
12g.47975538G>CCA384536986COL2A1c.3458C>G (p.Ala1153Gly)
c.3665C>G (p.Ala1222Gly)
n.2751C>G
n.518C>G
c.3809C>G (p.Ala1270Gly)
c.3806C>G (p.Ala1269Gly)
c.2753C>G (p.Ala918Gly)
c.3599C>G (p.Ala1200Gly)
c.3119C>G (p.Ala1040Gly)
12g.47975538G>TCA384536988COL2A1c.3458C>A (p.Ala1153Asp)
c.3665C>A (p.Ala1222Asp)
n.2751C>A
n.518C>A
c.3809C>A (p.Ala1270Asp)
c.3806C>A (p.Ala1269Asp)
c.2753C>A (p.Ala918Asp)
c.3599C>A (p.Ala1200Asp)
c.3119C>A (p.Ala1040Asp)
12g.47975538_47975542dupCA2697559176COL2A1c.3454_3458dup (p.Phe1154ProfsTer6)
c.3661_3665dup (p.Phe1223ProfsTer6)
n.2747_2751dup
n.514_518dup
c.3805_3809dup (p.Phe1271ProfsTer6)
c.3802_3806dup (p.Phe1270ProfsTer6)
c.2749_2753dup (p.Phe919ProfsTer6)
c.3595_3599dup (p.Phe1201ProfsTer6)
c.3115_3119dup (p.Phe1041ProfsTer6)
 ClinVar
12g.47975539C>ACA384536990COL2A1c.3457G>T (p.Ala1153Ser)
c.3664G>T (p.Ala1222Ser)
n.2750G>T
n.517G>T
c.3808G>T (p.Ala1270Ser)
c.3805G>T (p.Ala1269Ser)
c.2752G>T (p.Ala918Ser)
c.3598G>T (p.Ala1200Ser)
c.3118G>T (p.Ala1040Ser)
12g.47975539C=CA2034474147COL2A1c.3457G= (p.Ala1153=)
c.3664G= (p.Ala1222=)
n.2750G=
n.517G=
c.3808G= (p.Ala1270=)
c.3805G= (p.Ala1269=)
c.2752G= (p.Ala918=)
c.3598G= (p.Ala1200=)
c.3118G= (p.Ala1040=)
12g.47975539C>GCA384536992COL2A1c.3457G>C (p.Ala1153Pro)
c.3664G>C (p.Ala1222Pro)
n.2750G>C
n.517G>C
c.3808G>C (p.Ala1270Pro)
c.3805G>C (p.Ala1269Pro)
c.2752G>C (p.Ala918Pro)
c.3598G>C (p.Ala1200Pro)
c.3118G>C (p.Ala1040Pro)
12g.47975539C>TCA236517276COL2A1c.3457G>A (p.Ala1153Thr)
c.3664G>A (p.Ala1222Thr)
n.2750G>A
n.517G>A
c.3808G>A (p.Ala1270Thr)
c.3805G>A (p.Ala1269Thr)
c.2752G>A (p.Ala918Thr)
c.3598G>A (p.Ala1200Thr)
c.3118G>A (p.Ala1040Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47975539_47975540delinsCGCA2034474145COL2A1c.3456_3457delinsCG (p.Ser1152=)
c.3663_3664delinsCG (p.Ser1221=)
n.2749_2750delinsCG
n.516_517delinsCG
c.3807_3808delinsCG (p.Ser1269=)
c.3804_3805delinsCG (p.Ser1268=)
c.2751_2752delinsCG (p.Ser917=)
c.3597_3598delinsCG (p.Ser1199=)
c.3117_3118delinsCG (p.Ser1039=)
12g.47975540G>ACA6534671COL2A1c.3456C>T (p.Ser1152=)
c.3663C>T (p.Ser1221=)
n.2749C>T
n.516C>T
c.3807C>T (p.Ser1269=)
c.3804C>T (p.Ser1268=)
c.2751C>T (p.Ser917=)
c.3597C>T (p.Ser1199=)
c.3117C>T (p.Ser1039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975540G>CCA479696975COL2A1c.3456C>G (p.Ser1152=)
c.3663C>G (p.Ser1221=)
n.2749C>G
n.516C>G
c.3807C>G (p.Ser1269=)
c.3804C>G (p.Ser1268=)
c.2751C>G (p.Ser917=)
c.3597C>G (p.Ser1199=)
c.3117C>G (p.Ser1039=)
12g.47975540G=CA2034474153COL2A1c.3456C= (p.Ser1152=)
c.3663C= (p.Ser1221=)
n.2749C=
n.516C=
c.3807C= (p.Ser1269=)
c.3804C= (p.Ser1268=)
c.2751C= (p.Ser917=)
c.3597C= (p.Ser1199=)
c.3117C= (p.Ser1039=)
12g.47975540G>TCA479696976COL2A1c.3456C>A (p.Ser1152=)
c.3663C>A (p.Ser1221=)
n.2749C>A
n.516C>A
c.3807C>A (p.Ser1269=)
c.3804C>A (p.Ser1268=)
c.2751C>A (p.Ser917=)
c.3597C>A (p.Ser1199=)
c.3117C>A (p.Ser1039=)
 gnomAD v4
12g.47975541delCA1139662609COL2A1c.3456del (p.Ala1153ProfsTer5)
c.3663del (p.Ala1222ProfsTer5)
n.2749del
n.516del
c.3807del (p.Ala1270ProfsTer5)
c.3804del (p.Ala1269ProfsTer5)
c.2751del (p.Ala918ProfsTer5)
c.3597del (p.Ala1200ProfsTer5)
c.3117del (p.Ala1040ProfsTer5)
 ClinVar dbSNP
12g.47975541G>ACA384536996COL2A1c.3455C>T (p.Ser1152Phe)
c.3662C>T (p.Ser1221Phe)
n.2748C>T
n.515C>T
c.3806C>T (p.Ser1269Phe)
c.3803C>T (p.Ser1268Phe)
c.2750C>T (p.Ser917Phe)
c.3596C>T (p.Ser1199Phe)
c.3116C>T (p.Ser1039Phe)
 ClinVar dbSNP
12g.47975541G>CCA384536998COL2A1c.3455C>G (p.Ser1152Cys)
c.3662C>G (p.Ser1221Cys)
n.2748C>G
n.515C>G
c.3806C>G (p.Ser1269Cys)
c.3803C>G (p.Ser1268Cys)
c.2750C>G (p.Ser917Cys)
c.3596C>G (p.Ser1199Cys)
c.3116C>G (p.Ser1039Cys)
12g.47975541G>TCA384536999COL2A1c.3455C>A (p.Ser1152Tyr)
c.3662C>A (p.Ser1221Tyr)
n.2748C>A
n.515C>A
c.3806C>A (p.Ser1269Tyr)
c.3803C>A (p.Ser1268Tyr)
c.2750C>A (p.Ser917Tyr)
c.3596C>A (p.Ser1199Tyr)
c.3116C>A (p.Ser1039Tyr)
12g.47975542A>CCA384537001COL2A1c.3454T>G (p.Ser1152Ala)
c.3661T>G (p.Ser1221Ala)
n.2747T>G
n.514T>G
c.3805T>G (p.Ser1269Ala)
c.3802T>G (p.Ser1268Ala)
c.2749T>G (p.Ser917Ala)
c.3595T>G (p.Ser1199Ala)
c.3115T>G (p.Ser1039Ala)
12g.47975542A>GCA384537003COL2A1c.3454T>C (p.Ser1152Pro)
c.3661T>C (p.Ser1221Pro)
n.2747T>C
n.514T>C
c.3805T>C (p.Ser1269Pro)
c.3802T>C (p.Ser1268Pro)
c.2749T>C (p.Ser917Pro)
c.3595T>C (p.Ser1199Pro)
c.3115T>C (p.Ser1039Pro)
12g.47975542A>TCA384537005COL2A1c.3454T>A (p.Ser1152Thr)
c.3661T>A (p.Ser1221Thr)
n.2747T>A
n.514T>A
c.3805T>A (p.Ser1269Thr)
c.3802T>A (p.Ser1268Thr)
c.2749T>A (p.Ser917Thr)
c.3595T>A (p.Ser1199Thr)
c.3115T>A (p.Ser1039Thr)
12g.47975543C>ACA384537007COL2A1c.3453G>T (p.Met1151Ile)
c.3660G>T (p.Met1220Ile)
n.2746G>T
n.513G>T
c.3804G>T (p.Met1268Ile)
c.3801G>T (p.Met1267Ile)
c.2748G>T (p.Met916Ile)
c.3594G>T (p.Met1198Ile)
c.3114G>T (p.Met1038Ile)
12g.47975543C=CA2034474160COL2A1c.3453G= (p.Met1151=)
c.3660G= (p.Met1220=)
n.2746G=
n.513G=
c.3804G= (p.Met1268=)
c.3801G= (p.Met1267=)
c.2748G= (p.Met916=)
c.3594G= (p.Met1198=)
c.3114G= (p.Met1038=)
12g.47975543C>GCA384537009COL2A1c.3453G>C (p.Met1151Ile)
c.3660G>C (p.Met1220Ile)
n.2746G>C
n.513G>C
c.3804G>C (p.Met1268Ile)
c.3801G>C (p.Met1267Ile)
c.2748G>C (p.Met916Ile)
c.3594G>C (p.Met1198Ile)
c.3114G>C (p.Met1038Ile)
12g.47975543C>TCA6534672COL2A1c.3453G>A (p.Met1151Ile)
c.3660G>A (p.Met1220Ile)
n.2746G>A
n.513G>A
c.3804G>A (p.Met1268Ile)
c.3801G>A (p.Met1267Ile)
c.2748G>A (p.Met916Ile)
c.3594G>A (p.Met1198Ile)
c.3114G>A (p.Met1038Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975544A=CA2034474169COL2A1c.3452T= (p.Met1151=)
c.3659T= (p.Met1220=)
n.2745T=
n.512T=
c.3803T= (p.Met1268=)
c.3800T= (p.Met1267=)
c.2747T= (p.Met916=)
c.3593T= (p.Met1198=)
c.3113T= (p.Met1038=)
12g.47975544A>CCA384537012COL2A1c.3452T>G (p.Met1151Arg)
c.3659T>G (p.Met1220Arg)
n.2745T>G
n.512T>G
c.3803T>G (p.Met1268Arg)
c.3800T>G (p.Met1267Arg)
c.2747T>G (p.Met916Arg)
c.3593T>G (p.Met1198Arg)
c.3113T>G (p.Met1038Arg)
 ClinVar dbSNP
12g.47975544A>GCA10642342COL2A1c.3452T>C (p.Met1151Thr)
c.3659T>C (p.Met1220Thr)
n.2745T>C
n.512T>C
c.3803T>C (p.Met1268Thr)
c.3800T>C (p.Met1267Thr)
c.2747T>C (p.Met916Thr)
c.3593T>C (p.Met1198Thr)
c.3113T>C (p.Met1038Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975544A>TCA384537014COL2A1c.3452T>A (p.Met1151Lys)
c.3659T>A (p.Met1220Lys)
n.2745T>A
n.512T>A
c.3803T>A (p.Met1268Lys)
c.3800T>A (p.Met1267Lys)
c.2747T>A (p.Met916Lys)
c.3593T>A (p.Met1198Lys)
c.3113T>A (p.Met1038Lys)
12g.47975545T>ACA384537020COL2A1c.3451A>T (p.Met1151Leu)
c.3658A>T (p.Met1220Leu)
n.2744A>T
n.511A>T
c.3802A>T (p.Met1268Leu)
c.3799A>T (p.Met1267Leu)
c.2746A>T (p.Met916Leu)
c.3592A>T (p.Met1198Leu)
c.3112A>T (p.Met1038Leu)
12g.47975545T>CCA384537018COL2A1c.3451A>G (p.Met1151Val)
c.3658A>G (p.Met1220Val)
n.2744A>G
n.511A>G
c.3802A>G (p.Met1268Val)
c.3799A>G (p.Met1267Val)
c.2746A>G (p.Met916Val)
c.3592A>G (p.Met1198Val)
c.3112A>G (p.Met1038Val)
 gnomAD v4
12g.47975545T>GCA384537017COL2A1c.3451A>C (p.Met1151Leu)
c.3658A>C (p.Met1220Leu)
n.2744A>C
n.511A>C
c.3802A>C (p.Met1268Leu)
c.3799A>C (p.Met1267Leu)
c.2746A>C (p.Met916Leu)
c.3592A>C (p.Met1198Leu)
c.3112A>C (p.Met1038Leu)
12g.47975546G>ACA6534673COL2A1c.3450C>T (p.Asp1150=)
c.3657C>T (p.Asp1219=)
n.2743C>T
n.510C>T
c.3801C>T (p.Asp1267=)
c.3798C>T (p.Asp1266=)
c.2745C>T (p.Asp915=)
c.3591C>T (p.Asp1197=)
c.3111C>T (p.Asp1037=)
 dbSNP ExAC gnomAD v4
12g.47975546G>CCA384537024COL2A1c.3450C>G (p.Asp1150Glu)
c.3657C>G (p.Asp1219Glu)
n.2743C>G
n.510C>G
c.3801C>G (p.Asp1267Glu)
c.3798C>G (p.Asp1266Glu)
c.2745C>G (p.Asp915Glu)
c.3591C>G (p.Asp1197Glu)
c.3111C>G (p.Asp1037Glu)
12g.47975546G=CA2034474174COL2A1c.3450C= (p.Asp1150=)
c.3657C= (p.Asp1219=)
n.2743C=
n.510C=
c.3801C= (p.Asp1267=)
c.3798C= (p.Asp1266=)
c.2745C= (p.Asp915=)
c.3591C= (p.Asp1197=)
c.3111C= (p.Asp1037=)
12g.47975546G>TCA384537023COL2A1c.3450C>A (p.Asp1150Glu)
c.3657C>A (p.Asp1219Glu)
n.2743C>A
n.510C>A
c.3801C>A (p.Asp1267Glu)
c.3798C>A (p.Asp1266Glu)
c.2745C>A (p.Asp915Glu)
c.3591C>A (p.Asp1197Glu)
c.3111C>A (p.Asp1037Glu)
 gnomAD v4
12g.47975547T>ACA384537027COL2A1c.3449A>T (p.Asp1150Val)
c.3656A>T (p.Asp1219Val)
n.2742A>T
n.509A>T
c.3800A>T (p.Asp1267Val)
c.3797A>T (p.Asp1266Val)
c.2744A>T (p.Asp915Val)
c.3590A>T (p.Asp1197Val)
c.3110A>T (p.Asp1037Val)
12g.47975547T>CCA6534674COL2A1c.3449A>G (p.Asp1150Gly)
c.3656A>G (p.Asp1219Gly)
n.2742A>G
n.509A>G
c.3800A>G (p.Asp1267Gly)
c.3797A>G (p.Asp1266Gly)
c.2744A>G (p.Asp915Gly)
c.3590A>G (p.Asp1197Gly)
c.3110A>G (p.Asp1037Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975547T>GCA384537029COL2A1c.3449A>C (p.Asp1150Ala)
c.3656A>C (p.Asp1219Ala)
n.2742A>C
n.509A>C
c.3800A>C (p.Asp1267Ala)
c.3797A>C (p.Asp1266Ala)
c.2744A>C (p.Asp915Ala)
c.3590A>C (p.Asp1197Ala)
c.3110A>C (p.Asp1037Ala)
12g.47975547T=CA2034474178COL2A1c.3449A= (p.Asp1150=)
c.3656A= (p.Asp1219=)
n.2742A=
n.509A=
c.3800A= (p.Asp1267=)
c.3797A= (p.Asp1266=)
c.2744A= (p.Asp915=)
c.3590A= (p.Asp1197=)
c.3110A= (p.Asp1037=)
12g.47975548C>ACA16606542COL2A1c.3448G>T (p.Asp1150Tyr)
c.3655G>T (p.Asp1219Tyr)
n.2741G>T
n.508G>T
c.3799G>T (p.Asp1267Tyr)
c.3796G>T (p.Asp1266Tyr)
c.2743G>T (p.Asp915Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3109G>T (p.Asp1037Tyr)
 ClinVar dbSNP
12g.47975548C=CA2034474189COL2A1c.3448G= (p.Asp1150=)
c.3655G= (p.Asp1219=)
n.2741G=
n.508G=
c.3799G= (p.Asp1267=)
c.3796G= (p.Asp1266=)
c.2743G= (p.Asp915=)
c.3589G= (p.Asp1197=)
c.3109G= (p.Asp1037=)
12g.47975548C>GCA16021322COL2A1c.3448G>C (p.Asp1150His)
c.3655G>C (p.Asp1219His)
n.2741G>C
n.508G>C
c.3799G>C (p.Asp1267His)
c.3796G>C (p.Asp1266His)
c.2743G>C (p.Asp915His)
c.3589G>C (p.Asp1197His)
c.3109G>C (p.Asp1037His)
 ClinVar dbSNP gnomAD v4
12g.47975548C>TCA6534675COL2A1c.3448G>A (p.Asp1150Asn)
c.3655G>A (p.Asp1219Asn)
n.2741G>A
n.508G>A
c.3799G>A (p.Asp1267Asn)
c.3796G>A (p.Asp1266Asn)
c.2743G>A (p.Asp915Asn)
c.3589G>A (p.Asp1197Asn)
c.3109G>A (p.Asp1037Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975549G>ACA6534676COL2A1c.3447C>T (p.Ile1149=)
c.3654C>T (p.Ile1218=)
n.2740C>T
n.507C>T
c.3798C>T (p.Ile1266=)
c.3795C>T (p.Ile1265=)
c.2742C>T (p.Ile914=)
c.3588C>T (p.Ile1196=)
c.3108C>T (p.Ile1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47975549G>CCA384537036COL2A1c.3447C>G (p.Ile1149Met)
c.3654C>G (p.Ile1218Met)
n.2740C>G
n.507C>G
c.3798C>G (p.Ile1266Met)
c.3795C>G (p.Ile1265Met)
c.2742C>G (p.Ile914Met)
c.3588C>G (p.Ile1196Met)
c.3108C>G (p.Ile1036Met)
 dbSNP gnomAD v3 gnomAD v4
12g.47975549G=CA2034474198COL2A1c.3447C= (p.Ile1149=)
c.3654C= (p.Ile1218=)
n.2740C=
n.507C=
c.3798C= (p.Ile1266=)
c.3795C= (p.Ile1265=)
c.2742C= (p.Ile914=)
c.3588C= (p.Ile1196=)
c.3108C= (p.Ile1036=)
12g.47975549G>TCA479696983COL2A1c.3447C>A (p.Ile1149=)
c.3654C>A (p.Ile1218=)
n.2740C>A
n.507C>A
c.3798C>A (p.Ile1266=)
c.3795C>A (p.Ile1265=)
c.2742C>A (p.Ile914=)
c.3588C>A (p.Ile1196=)
c.3108C>A (p.Ile1036=)
 gnomAD v4
12g.47975550A>CCA384537039COL2A1c.3446T>G (p.Ile1149Ser)
c.3653T>G (p.Ile1218Ser)
n.2739T>G
n.506T>G
c.3797T>G (p.Ile1266Ser)
c.3794T>G (p.Ile1265Ser)
c.2741T>G (p.Ile914Ser)
c.3587T>G (p.Ile1196Ser)
c.3107T>G (p.Ile1036Ser)
12g.47975550A>GCA384537040COL2A1c.3446T>C (p.Ile1149Thr)
c.3653T>C (p.Ile1218Thr)
n.2739T>C
n.506T>C
c.3797T>C (p.Ile1266Thr)
c.3794T>C (p.Ile1265Thr)
c.2741T>C (p.Ile914Thr)
c.3587T>C (p.Ile1196Thr)
c.3107T>C (p.Ile1036Thr)
12g.47975550A>TCA384537041COL2A1c.3446T>A (p.Ile1149Asn)
c.3653T>A (p.Ile1218Asn)
n.2739T>A
n.506T>A
c.3797T>A (p.Ile1266Asn)
c.3794T>A (p.Ile1265Asn)
c.2741T>A (p.Ile914Asn)
c.3587T>A (p.Ile1196Asn)
c.3107T>A (p.Ile1036Asn)
12g.47975551T>ACA384537044COL2A1c.3445A>T (p.Ile1149Phe)
c.3652A>T (p.Ile1218Phe)
n.2738A>T
n.505A>T
c.3796A>T (p.Ile1266Phe)
c.3793A>T (p.Ile1265Phe)
c.2740A>T (p.Ile914Phe)
c.3586A>T (p.Ile1196Phe)
c.3106A>T (p.Ile1036Phe)
12g.47975551T>CCA6534677COL2A1c.3445A>G (p.Ile1149Val)
c.3652A>G (p.Ile1218Val)
n.2738A>G
n.505A>G
c.3796A>G (p.Ile1266Val)
c.3793A>G (p.Ile1265Val)
c.2740A>G (p.Ile914Val)
c.3586A>G (p.Ile1196Val)
c.3106A>G (p.Ile1036Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975551T>GCA384537046COL2A1c.3445A>C (p.Ile1149Leu)
c.3652A>C (p.Ile1218Leu)
n.2738A>C
n.505A>C
c.3796A>C (p.Ile1266Leu)
c.3793A>C (p.Ile1265Leu)
c.2740A>C (p.Ile914Leu)
c.3586A>C (p.Ile1196Leu)
c.3106A>C (p.Ile1036Leu)
12g.47975551T=CA2034474201COL2A1c.3445A= (p.Ile1149=)
c.3652A= (p.Ile1218=)
n.2738A=
n.505A=
c.3796A= (p.Ile1266=)
c.3793A= (p.Ile1265=)
c.2740A= (p.Ile914=)
c.3586A= (p.Ile1196=)
c.3106A= (p.Ile1036=)
12g.47975552G>ACA479696987COL2A1c.3444C>T (p.Gly1148=)
c.3651C>T (p.Gly1217=)
n.2737C>T
n.504C>T
c.3795C>T (p.Gly1265=)
c.3792C>T (p.Gly1264=)
c.2739C>T (p.Gly913=)
c.3585C>T (p.Gly1195=)
c.3105C>T (p.Gly1035=)
12g.47975552G>CCA479696988COL2A1c.3444C>G (p.Gly1148=)
c.3651C>G (p.Gly1217=)
n.2737C>G
n.504C>G
c.3795C>G (p.Gly1265=)
c.3792C>G (p.Gly1264=)
c.2739C>G (p.Gly913=)
c.3585C>G (p.Gly1195=)
c.3105C>G (p.Gly1035=)
12g.47975552G>TCA479696989COL2A1c.3444C>A (p.Gly1148=)
c.3651C>A (p.Gly1217=)
n.2737C>A
n.504C>A
c.3795C>A (p.Gly1265=)
c.3792C>A (p.Gly1264=)
c.2739C>A (p.Gly913=)
c.3585C>A (p.Gly1195=)
c.3105C>A (p.Gly1035=)
12g.47975559_47975564delCA2618506883COL2A1c.3439_3444del (p.Pro1147_Gly1148del)
c.3646_3651del (p.Pro1216_Gly1217del)
n.2732_2737del
n.499_504del
c.3790_3795del (p.Pro1264_Gly1265del)
c.3787_3792del (p.Pro1263_Gly1264del)
c.2734_2739del (p.Pro912_Gly913del)
c.3580_3585del (p.Pro1194_Gly1195del)
c.3100_3105del (p.Pro1034_Gly1035del)
 gnomAD v4
12g.47975553C>ACA384537049COL2A1c.3443G>T (p.Gly1148Val)
c.3650G>T (p.Gly1217Val)
n.2736G>T
n.503G>T
c.3794G>T (p.Gly1265Val)
c.3791G>T (p.Gly1264Val)
c.2738G>T (p.Gly913Val)
c.3584G>T (p.Gly1195Val)
c.3104G>T (p.Gly1035Val)
12g.47975553C=CA2034474203COL2A1c.3443G= (p.Gly1148=)
c.3650G= (p.Gly1217=)
n.2736G=
n.503G=
c.3794G= (p.Gly1265=)
c.3791G= (p.Gly1264=)
c.2738G= (p.Gly913=)
c.3584G= (p.Gly1195=)
c.3104G= (p.Gly1035=)
12g.47975553C>GCA384537053COL2A1c.3443G>C (p.Gly1148Ala)
c.3650G>C (p.Gly1217Ala)
n.2736G>C
n.503G>C
c.3794G>C (p.Gly1265Ala)
c.3791G>C (p.Gly1264Ala)
c.2738G>C (p.Gly913Ala)
c.3584G>C (p.Gly1195Ala)
c.3104G>C (p.Gly1035Ala)
12g.47975553C>TCA384537051COL2A1c.3443G>A (p.Gly1148Asp)
c.3650G>A (p.Gly1217Asp)
n.2736G>A
n.503G>A
c.3794G>A (p.Gly1265Asp)
c.3791G>A (p.Gly1264Asp)
c.2738G>A (p.Gly913Asp)
c.3584G>A (p.Gly1195Asp)
c.3104G>A (p.Gly1035Asp)
 dbSNP gnomAD v4
12g.47975554C>ACA384537056COL2A1c.3442G>T (p.Gly1148Cys)
c.3649G>T (p.Gly1217Cys)
n.2735G>T
n.502G>T
c.3793G>T (p.Gly1265Cys)
c.3790G>T (p.Gly1264Cys)
c.2737G>T (p.Gly913Cys)
c.3583G>T (p.Gly1195Cys)
c.3103G>T (p.Gly1035Cys)
12g.47975554C>GCA384537057COL2A1c.3442G>C (p.Gly1148Arg)
c.3649G>C (p.Gly1217Arg)
n.2735G>C
n.502G>C
c.3793G>C (p.Gly1265Arg)
c.3790G>C (p.Gly1264Arg)
c.2737G>C (p.Gly913Arg)
c.3583G>C (p.Gly1195Arg)
c.3103G>C (p.Gly1035Arg)
12g.47975554C>TCA384537059COL2A1c.3442G>A (p.Gly1148Ser)
c.3649G>A (p.Gly1217Ser)
n.2735G>A
n.502G>A
c.3793G>A (p.Gly1265Ser)
c.3790G>A (p.Gly1264Ser)
c.2737G>A (p.Gly913Ser)
c.3583G>A (p.Gly1195Ser)
c.3103G>A (p.Gly1035Ser)
 gnomAD v4
12g.47975555A=CA2034474209COL2A1c.3441T= (p.Pro1147=)
c.3648T= (p.Pro1216=)
n.2734T=
n.501T=
c.3792T= (p.Pro1264=)
c.3789T= (p.Pro1263=)
c.2736T= (p.Pro912=)
c.3582T= (p.Pro1194=)
c.3102T= (p.Pro1034=)
12g.47975555A>CCA479696992COL2A1c.3441T>G (p.Pro1147=)
c.3648T>G (p.Pro1216=)
n.2734T>G
n.501T>G
c.3792T>G (p.Pro1264=)
c.3789T>G (p.Pro1263=)
c.2736T>G (p.Pro912=)
c.3582T>G (p.Pro1194=)
c.3102T>G (p.Pro1034=)
12g.47975555A>GCA479696993COL2A1c.3441T>C (p.Pro1147=)
c.3648T>C (p.Pro1216=)
n.2734T>C
n.501T>C
c.3792T>C (p.Pro1264=)
c.3789T>C (p.Pro1263=)
c.2736T>C (p.Pro912=)
c.3582T>C (p.Pro1194=)
c.3102T>C (p.Pro1034=)
 ClinVar dbSNP
12g.47975555A>TCA479696995COL2A1c.3441T>A (p.Pro1147=)
c.3648T>A (p.Pro1216=)
n.2734T>A
n.501T>A
c.3792T>A (p.Pro1264=)
c.3789T>A (p.Pro1263=)
c.2736T>A (p.Pro912=)
c.3582T>A (p.Pro1194=)
c.3102T>A (p.Pro1034=)
12g.47975558_47975575dupCA2580085672COL2A1c.3424_3441dup (p.Pro1147_Gly1148insProGlyProProGlyPro)
c.3631_3648dup (p.Pro1216_Gly1217insProGlyProProGlyPro)
n.2717_2734dup
n.484_501dup
c.3775_3792dup (p.Pro1264_Gly1265insProGlyProProGlyPro)
c.3772_3789dup (p.Pro1263_Gly1264insProGlyProProGlyPro)
c.2719_2736dup (p.Pro912_Gly913insProGlyProProGlyPro)
c.3565_3582dup (p.Pro1194_Gly1195insProGlyProProGlyPro)
c.3085_3102dup (p.Pro1034_Gly1035insProGlyProProGlyPro)
 ClinVar
12g.47975556G>ACA384537062COL2A1c.3440C>T (p.Pro1147Leu)
c.3647C>T (p.Pro1216Leu)
n.2733C>T
n.500C>T
c.3791C>T (p.Pro1264Leu)
c.3788C>T (p.Pro1263Leu)
c.2735C>T (p.Pro912Leu)
c.3581C>T (p.Pro1194Leu)
c.3101C>T (p.Pro1034Leu)
12g.47975556G>CCA384537064COL2A1c.3440C>G (p.Pro1147Arg)
c.3647C>G (p.Pro1216Arg)
n.2733C>G
n.500C>G
c.3791C>G (p.Pro1264Arg)
c.3788C>G (p.Pro1263Arg)
c.2735C>G (p.Pro912Arg)
c.3581C>G (p.Pro1194Arg)
c.3101C>G (p.Pro1034Arg)
 ClinVar dbSNP
12g.47975556G=CA2034474212COL2A1c.3440C= (p.Pro1147=)
c.3647C= (p.Pro1216=)
n.2733C=
n.500C=
c.3791C= (p.Pro1264=)
c.3788C= (p.Pro1263=)
c.2735C= (p.Pro912=)
c.3581C= (p.Pro1194=)
c.3101C= (p.Pro1034=)
12g.47975556G>TCA384537066COL2A1c.3440C>A (p.Pro1147His)
c.3647C>A (p.Pro1216His)
n.2733C>A
n.500C>A
c.3791C>A (p.Pro1264His)
c.3788C>A (p.Pro1263His)
c.2735C>A (p.Pro912His)
c.3581C>A (p.Pro1194His)
c.3101C>A (p.Pro1034His)
 dbSNP gnomAD v2 gnomAD v4
12g.47975557G>ACA384537068COL2A1c.3439C>T (p.Pro1147Ser)
c.3646C>T (p.Pro1216Ser)
n.2732C>T
n.499C>T
c.3790C>T (p.Pro1264Ser)
c.3787C>T (p.Pro1263Ser)
c.2734C>T (p.Pro912Ser)
c.3580C>T (p.Pro1194Ser)
c.3100C>T (p.Pro1034Ser)
12g.47975557G>CCA384537069COL2A1c.3439C>G (p.Pro1147Ala)
c.3646C>G (p.Pro1216Ala)
n.2732C>G
n.499C>G
c.3790C>G (p.Pro1264Ala)
c.3787C>G (p.Pro1263Ala)
c.2734C>G (p.Pro912Ala)
c.3580C>G (p.Pro1194Ala)
c.3100C>G (p.Pro1034Ala)
12g.47975557G>TCA384537074COL2A1c.3439C>A (p.Pro1147Thr)
c.3646C>A (p.Pro1216Thr)
n.2732C>A
n.499C>A
c.3790C>A (p.Pro1264Thr)
c.3787C>A (p.Pro1263Thr)
c.2734C>A (p.Pro912Thr)
c.3580C>A (p.Pro1194Thr)
c.3100C>A (p.Pro1034Thr)
12g.47975558G>ACA479697001COL2A1c.3438C>T (p.Gly1146=)
c.3645C>T (p.Gly1215=)
n.2731C>T
n.498C>T
c.3789C>T (p.Gly1263=)
c.3786C>T (p.Gly1262=)
c.2733C>T (p.Gly911=)
c.3579C>T (p.Gly1193=)
c.3099C>T (p.Gly1033=)
 ClinVar dbSNP gnomAD v4
12g.47975558G>CCA479697002COL2A1c.3438C>G (p.Gly1146=)
c.3645C>G (p.Gly1215=)
n.2731C>G
n.498C>G
c.3789C>G (p.Gly1263=)
c.3786C>G (p.Gly1262=)
c.2733C>G (p.Gly911=)
c.3579C>G (p.Gly1193=)
c.3099C>G (p.Gly1033=)
12g.47975558G>TCA479697004COL2A1c.3438C>A (p.Gly1146=)
c.3645C>A (p.Gly1215=)
n.2731C>A
n.498C>A
c.3789C>A (p.Gly1263=)
c.3786C>A (p.Gly1262=)
c.2733C>A (p.Gly911=)
c.3579C>A (p.Gly1193=)
c.3099C>A (p.Gly1033=)
12g.47975559C>ACA384537078COL2A1c.3437G>T (p.Gly1146Val)
c.3644G>T (p.Gly1215Val)
n.2730G>T
n.497G>T
c.3788G>T (p.Gly1263Val)
c.3785G>T (p.Gly1262Val)
c.2732G>T (p.Gly911Val)
c.3578G>T (p.Gly1193Val)
c.3098G>T (p.Gly1033Val)
12g.47975559C=CA2034474216COL2A1c.3437G= (p.Gly1146=)
c.3644G= (p.Gly1215=)
n.2730G=
n.497G=
c.3788G= (p.Gly1263=)
c.3785G= (p.Gly1262=)
c.2732G= (p.Gly911=)
c.3578G= (p.Gly1193=)
c.3098G= (p.Gly1033=)
12g.47975559C>GCA6534678COL2A1c.3437G>C (p.Gly1146Ala)
c.3644G>C (p.Gly1215Ala)
n.2730G>C
n.497G>C
c.3788G>C (p.Gly1263Ala)
c.3785G>C (p.Gly1262Ala)
c.2732G>C (p.Gly911Ala)
c.3578G>C (p.Gly1193Ala)
c.3098G>C (p.Gly1033Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975559C>TCA384537077COL2A1c.3437G>A (p.Gly1146Asp)
c.3644G>A (p.Gly1215Asp)
n.2730G>A
n.497G>A
c.3788G>A (p.Gly1263Asp)
c.3785G>A (p.Gly1262Asp)
c.2732G>A (p.Gly911Asp)
c.3578G>A (p.Gly1193Asp)
c.3098G>A (p.Gly1033Asp)
12g.47975567_47975584dupCA2618506907COL2A1c.3420_3437dup (p.Gly1146_Pro1147insProProGlyProProGly)
c.3627_3644dup (p.Gly1215_Pro1216insProProGlyProProGly)
n.2713_2730dup
n.480_497dup
c.3771_3788dup (p.Gly1263_Pro1264insProProGlyProProGly)
c.3768_3785dup (p.Gly1262_Pro1263insProProGlyProProGly)
c.2715_2732dup (p.Gly911_Pro912insProProGlyProProGly)
c.3561_3578dup (p.Gly1193_Pro1194insProProGlyProProGly)
c.3081_3098dup (p.Gly1033_Pro1034insProProGlyProProGly)
 gnomAD v4
12g.47975567_47975584delCA2573148597COL2A1c.3420_3437del (p.Pro1141_Gly1146del)
c.3627_3644del (p.Pro1210_Gly1215del)
n.2713_2730del
n.480_497del
c.3771_3788del (p.Pro1258_Gly1263del)
c.3768_3785del (p.Pro1257_Gly1262del)
c.2715_2732del (p.Pro906_Gly911del)
c.3561_3578del (p.Pro1188_Gly1193del)
c.3081_3098del (p.Pro1028_Gly1033del)
 ClinVar dbSNP
12g.47975560C>ACA384537081COL2A1c.3436G>T (p.Gly1146Cys)
c.3643G>T (p.Gly1215Cys)
n.2729G>T
n.496G>T
c.3787G>T (p.Gly1263Cys)
c.3784G>T (p.Gly1262Cys)
c.2731G>T (p.Gly911Cys)
c.3577G>T (p.Gly1193Cys)
c.3097G>T (p.Gly1033Cys)
12g.47975560C>GCA384537082COL2A1c.3436G>C (p.Gly1146Arg)
c.3643G>C (p.Gly1215Arg)
n.2729G>C
n.496G>C
c.3787G>C (p.Gly1263Arg)
c.3784G>C (p.Gly1262Arg)
c.2731G>C (p.Gly911Arg)
c.3577G>C (p.Gly1193Arg)
c.3097G>C (p.Gly1033Arg)
12g.47975560C>TCA384537083COL2A1c.3436G>A (p.Gly1146Ser)
c.3643G>A (p.Gly1215Ser)
n.2729G>A
n.496G>A
c.3787G>A (p.Gly1263Ser)
c.3784G>A (p.Gly1262Ser)
c.2731G>A (p.Gly911Ser)
c.3577G>A (p.Gly1193Ser)
c.3097G>A (p.Gly1033Ser)
12g.47975560_47975561delinsCACA2034474221COL2A1c.3435_3436delinsTG (p.Pro1145=)
c.3642_3643delinsTG (p.Pro1214=)
n.2728_2729delinsTG
n.495_496delinsTG
c.3786_3787delinsTG (p.Pro1262=)
c.3783_3784delinsTG (p.Pro1261=)
c.2730_2731delinsTG (p.Pro910=)
c.3576_3577delinsTG (p.Pro1192=)
c.3096_3097delinsTG (p.Pro1032=)
12g.47975561delCA913190702COL2A1c.3435del (p.Gly1146AlafsTer12)
c.3642del (p.Gly1215AlafsTer12)
n.2728del
n.495del
c.3786del (p.Gly1263AlafsTer12)
c.3783del (p.Gly1262AlafsTer12)
c.2730del (p.Gly911AlafsTer12)
c.3576del (p.Gly1193AlafsTer12)
c.3096del (p.Gly1033AlafsTer12)
 ClinVar dbSNP
12g.47975561A=CA2034474226COL2A1c.3435T= (p.Pro1145=)
c.3642T= (p.Pro1214=)
n.2728T=
n.495T=
c.3786T= (p.Pro1262=)
c.3783T= (p.Pro1261=)
c.2730T= (p.Pro910=)
c.3576T= (p.Pro1192=)
c.3096T= (p.Pro1032=)
12g.47975561A>CCA479697008COL2A1c.3435T>G (p.Pro1145=)
c.3642T>G (p.Pro1214=)
n.2728T>G
n.495T>G
c.3786T>G (p.Pro1262=)
c.3783T>G (p.Pro1261=)
c.2730T>G (p.Pro910=)
c.3576T>G (p.Pro1192=)
c.3096T>G (p.Pro1032=)
 gnomAD v4
12g.47975561A>GCA236517357COL2A1c.3435T>C (p.Pro1145=)
c.3642T>C (p.Pro1214=)
n.2728T>C
n.495T>C
c.3786T>C (p.Pro1262=)
c.3783T>C (p.Pro1261=)
c.2730T>C (p.Pro910=)
c.3576T>C (p.Pro1192=)
c.3096T>C (p.Pro1032=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47975561A>TCA479697009COL2A1c.3435T>A (p.Pro1145=)
c.3642T>A (p.Pro1214=)
n.2728T>A
n.495T>A
c.3786T>A (p.Pro1262=)
c.3783T>A (p.Pro1261=)
c.2730T>A (p.Pro910=)
c.3576T>A (p.Pro1192=)
c.3096T>A (p.Pro1032=)
 dbSNP gnomAD v4
12g.47975562G>ACA384537086COL2A1c.3434C>T (p.Pro1145Leu)
c.3641C>T (p.Pro1214Leu)
n.2727C>T
n.494C>T
c.3785C>T (p.Pro1262Leu)
c.3782C>T (p.Pro1261Leu)
c.2729C>T (p.Pro910Leu)
c.3575C>T (p.Pro1192Leu)
c.3095C>T (p.Pro1032Leu)
12g.47975562G>CCA384537088COL2A1c.3434C>G (p.Pro1145Arg)
c.3641C>G (p.Pro1214Arg)
n.2727C>G
n.494C>G
c.3785C>G (p.Pro1262Arg)
c.3782C>G (p.Pro1261Arg)
c.2729C>G (p.Pro910Arg)
c.3575C>G (p.Pro1192Arg)
c.3095C>G (p.Pro1032Arg)
12g.47975562G>TCA384537090COL2A1c.3434C>A (p.Pro1145His)
c.3641C>A (p.Pro1214His)
n.2727C>A
n.494C>A
c.3785C>A (p.Pro1262His)
c.3782C>A (p.Pro1261His)
c.2729C>A (p.Pro910His)
c.3575C>A (p.Pro1192His)
c.3095C>A (p.Pro1032His)
12g.47975566dupCA2695216621COL2A1c.3434dup (p.Gly1146TrpfsTer?)
c.3641dup (p.Gly1215TrpfsTer?)
n.2727dup
n.494dup
c.3785dup (p.Gly1263TrpfsTer?)
c.3782dup (p.Gly1262TrpfsTer?)
c.2729dup (p.Gly911TrpfsTer?)
c.3575dup (p.Gly1193TrpfsTer?)
c.3095dup (p.Gly1033TrpfsTer?)
12g.47975566delCA2618506912COL2A1c.3434del (p.Pro1145LeufsTer13)
c.3641del (p.Pro1214LeufsTer13)
n.2727del
n.494del
c.3785del (p.Pro1262LeufsTer13)
c.3782del (p.Pro1261LeufsTer13)
c.2729del (p.Pro910LeufsTer13)
c.3575del (p.Pro1192LeufsTer13)
c.3095del (p.Pro1032LeufsTer13)
 gnomAD v4
12g.47975563G>ACA384537092COL2A1c.3433C>T (p.Pro1145Ser)
c.3640C>T (p.Pro1214Ser)
n.2726C>T
n.493C>T
c.3784C>T (p.Pro1262Ser)
c.3781C>T (p.Pro1261Ser)
c.2728C>T (p.Pro910Ser)
c.3574C>T (p.Pro1192Ser)
c.3094C>T (p.Pro1032Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.47975563G>CCA384537096COL2A1c.3433C>G (p.Pro1145Ala)
c.3640C>G (p.Pro1214Ala)
n.2726C>G
n.493C>G
c.3784C>G (p.Pro1262Ala)
c.3781C>G (p.Pro1261Ala)
c.2728C>G (p.Pro910Ala)
c.3574C>G (p.Pro1192Ala)
c.3094C>G (p.Pro1032Ala)
12g.47975563G=CA2034474230COL2A1c.3433C= (p.Pro1145=)
c.3640C= (p.Pro1214=)
n.2726C=
n.493C=
c.3784C= (p.Pro1262=)
c.3781C= (p.Pro1261=)
c.2728C= (p.Pro910=)
c.3574C= (p.Pro1192=)
c.3094C= (p.Pro1032=)
12g.47975563G>TCA384537093COL2A1c.3433C>A (p.Pro1145Thr)
c.3640C>A (p.Pro1214Thr)
n.2726C>A
n.493C>A
c.3784C>A (p.Pro1262Thr)
c.3781C>A (p.Pro1261Thr)
c.2728C>A (p.Pro910Thr)
c.3574C>A (p.Pro1192Thr)
c.3094C>A (p.Pro1032Thr)
 gnomAD v4
12g.47975563_47975564insACACA2795862784COL2A1c.3432_3433insTGT (p.Pro1144_Pro1145insCys)
c.3639_3640insTGT (p.Pro1213_Pro1214insCys)
n.2725_2726insTGT
n.492_493insTGT
c.3783_3784insTGT (p.Pro1261_Pro1262insCys)
c.3780_3781insTGT (p.Pro1260_Pro1261insCys)
c.2727_2728insTGT (p.Pro909_Pro910insCys)
c.3573_3574insTGT (p.Pro1191_Pro1192insCys)
c.3093_3094insTGT (p.Pro1031_Pro1032insCys)
12g.47975564G>ACA6534679COL2A1c.3432C>T (p.Pro1144=)
c.3639C>T (p.Pro1213=)
n.2725C>T
n.492C>T
c.3783C>T (p.Pro1261=)
c.3780C>T (p.Pro1260=)
c.2727C>T (p.Pro909=)
c.3573C>T (p.Pro1191=)
c.3093C>T (p.Pro1031=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975564G>CCA479697018COL2A1c.3432C>G (p.Pro1144=)
c.3639C>G (p.Pro1213=)
n.2725C>G
n.492C>G
c.3783C>G (p.Pro1261=)
c.3780C>G (p.Pro1260=)
c.2727C>G (p.Pro909=)
c.3573C>G (p.Pro1191=)
c.3093C>G (p.Pro1031=)
12g.47975564G=CA2034474234COL2A1c.3432C= (p.Pro1144=)
c.3639C= (p.Pro1213=)
n.2725C=
n.492C=
c.3783C= (p.Pro1261=)
c.3780C= (p.Pro1260=)
c.2727C= (p.Pro909=)
c.3573C= (p.Pro1191=)
c.3093C= (p.Pro1031=)
12g.47975564G>TCA479697021COL2A1c.3432C>A (p.Pro1144=)
c.3639C>A (p.Pro1213=)
n.2725C>A
n.492C>A
c.3783C>A (p.Pro1261=)
c.3780C>A (p.Pro1260=)
c.2727C>A (p.Pro909=)
c.3573C>A (p.Pro1191=)
c.3093C>A (p.Pro1031=)
12g.47975565G>ACA384537100COL2A1c.3431C>T (p.Pro1144Leu)
c.3638C>T (p.Pro1213Leu)
n.2724C>T
n.491C>T
c.3782C>T (p.Pro1261Leu)
c.3779C>T (p.Pro1260Leu)
c.2726C>T (p.Pro909Leu)
c.3572C>T (p.Pro1191Leu)
c.3092C>T (p.Pro1031Leu)
12g.47975565G>CCA384537101COL2A1c.3431C>G (p.Pro1144Arg)
c.3638C>G (p.Pro1213Arg)
n.2724C>G
n.491C>G
c.3782C>G (p.Pro1261Arg)
c.3779C>G (p.Pro1260Arg)
c.2726C>G (p.Pro909Arg)
c.3572C>G (p.Pro1191Arg)
c.3092C>G (p.Pro1031Arg)
 dbSNP
12g.47975565G=CA2034474243COL2A1c.3431C= (p.Pro1144=)
c.3638C= (p.Pro1213=)
n.2724C=
n.491C=
c.3782C= (p.Pro1261=)
c.3779C= (p.Pro1260=)
c.2726C= (p.Pro909=)
c.3572C= (p.Pro1191=)
c.3092C= (p.Pro1031=)
12g.47975565G>TCA384537103COL2A1c.3431C>A (p.Pro1144His)
c.3638C>A (p.Pro1213His)
n.2724C>A
n.491C>A
c.3782C>A (p.Pro1261His)
c.3779C>A (p.Pro1260His)
c.2726C>A (p.Pro909His)
c.3572C>A (p.Pro1191His)
c.3092C>A (p.Pro1031His)
 gnomAD v4
12g.47975566G>ACA236517361COL2A1c.3430C>T (p.Pro1144Ser)
c.3637C>T (p.Pro1213Ser)
n.2723C>T
n.490C>T
c.3781C>T (p.Pro1261Ser)
c.3778C>T (p.Pro1260Ser)
c.2725C>T (p.Pro909Ser)
c.3571C>T (p.Pro1191Ser)
c.3091C>T (p.Pro1031Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975566G>CCA384537107COL2A1c.3430C>G (p.Pro1144Ala)
c.3637C>G (p.Pro1213Ala)
n.2723C>G
n.490C>G
c.3781C>G (p.Pro1261Ala)
c.3778C>G (p.Pro1260Ala)
c.2725C>G (p.Pro909Ala)
c.3571C>G (p.Pro1191Ala)
c.3091C>G (p.Pro1031Ala)
 gnomAD v4
12g.47975566G=CA2034474246COL2A1c.3430C= (p.Pro1144=)
c.3637C= (p.Pro1213=)
n.2723C=
n.490C=
c.3781C= (p.Pro1261=)
c.3778C= (p.Pro1260=)
c.2725C= (p.Pro909=)
c.3571C= (p.Pro1191=)
c.3091C= (p.Pro1031=)
12g.47975566G>TCA384537106COL2A1c.3430C>A (p.Pro1144Thr)
c.3637C>A (p.Pro1213Thr)
n.2723C>A
n.490C>A
c.3781C>A (p.Pro1261Thr)
c.3778C>A (p.Pro1260Thr)
c.2725C>A (p.Pro909Thr)
c.3571C>A (p.Pro1191Thr)
c.3091C>A (p.Pro1031Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47975567A>CCA479697023COL2A1c.3429T>G (p.Gly1143=)
c.3636T>G (p.Gly1212=)
n.2722T>G
n.489T>G
c.3780T>G (p.Gly1260=)
c.3777T>G (p.Gly1259=)
c.2724T>G (p.Gly908=)
c.3570T>G (p.Gly1190=)
c.3090T>G (p.Gly1030=)
12g.47975567A>GCA479697024COL2A1c.3429T>C (p.Gly1143=)
c.3636T>C (p.Gly1212=)
n.2722T>C
n.489T>C
c.3780T>C (p.Gly1260=)
c.3777T>C (p.Gly1259=)
c.2724T>C (p.Gly908=)
c.3570T>C (p.Gly1190=)
c.3090T>C (p.Gly1030=)
12g.47975567A>TCA479697025COL2A1c.3429T>A (p.Gly1143=)
c.3636T>A (p.Gly1212=)
n.2722T>A
n.489T>A
c.3780T>A (p.Gly1260=)
c.3777T>A (p.Gly1259=)
c.2724T>A (p.Gly908=)
c.3570T>A (p.Gly1190=)
c.3090T>A (p.Gly1030=)
12g.47975568C>ACA384537109COL2A1c.3428G>T (p.Gly1143Val)
c.3635G>T (p.Gly1212Val)
n.2721G>T
n.488G>T
c.3779G>T (p.Gly1260Val)
c.3776G>T (p.Gly1259Val)
c.2723G>T (p.Gly908Val)
c.3569G>T (p.Gly1190Val)
c.3089G>T (p.Gly1030Val)
12g.47975568C=CA2034474253COL2A1c.3428G= (p.Gly1143=)
c.3635G= (p.Gly1212=)
n.2721G=
n.488G=
c.3779G= (p.Gly1260=)
c.3776G= (p.Gly1259=)
c.2723G= (p.Gly908=)
c.3569G= (p.Gly1190=)
c.3089G= (p.Gly1030=)
12g.47975568C>GCA384537110COL2A1c.3428G>C (p.Gly1143Ala)
c.3635G>C (p.Gly1212Ala)
n.2721G>C
n.488G>C
c.3779G>C (p.Gly1260Ala)
c.3776G>C (p.Gly1259Ala)
c.2723G>C (p.Gly908Ala)
c.3569G>C (p.Gly1190Ala)
c.3089G>C (p.Gly1030Ala)
 ClinVar dbSNP
12g.47975568C>TCA384537112COL2A1c.3428G>A (p.Gly1143Asp)
c.3635G>A (p.Gly1212Asp)
n.2721G>A
n.488G>A
c.3779G>A (p.Gly1260Asp)
c.3776G>A (p.Gly1259Asp)
c.2723G>A (p.Gly908Asp)
c.3569G>A (p.Gly1190Asp)
c.3089G>A (p.Gly1030Asp)
12g.47975569C>ACA384537114COL2A1c.3427G>T (p.Gly1143Cys)
c.3634G>T (p.Gly1212Cys)
n.2720G>T
n.487G>T
c.3778G>T (p.Gly1260Cys)
c.3775G>T (p.Gly1259Cys)
c.2722G>T (p.Gly908Cys)
c.3568G>T (p.Gly1190Cys)
c.3088G>T (p.Gly1030Cys)
12g.47975569C>GCA384537116COL2A1c.3427G>C (p.Gly1143Arg)
c.3634G>C (p.Gly1212Arg)
n.2720G>C
n.487G>C
c.3778G>C (p.Gly1260Arg)
c.3775G>C (p.Gly1259Arg)
c.2722G>C (p.Gly908Arg)
c.3568G>C (p.Gly1190Arg)
c.3088G>C (p.Gly1030Arg)
12g.47975569C>TCA384537118COL2A1c.3427G>A (p.Gly1143Ser)
c.3634G>A (p.Gly1212Ser)
n.2720G>A
n.487G>A
c.3778G>A (p.Gly1260Ser)
c.3775G>A (p.Gly1259Ser)
c.2722G>A (p.Gly908Ser)
c.3568G>A (p.Gly1190Ser)
c.3088G>A (p.Gly1030Ser)
12g.47975570T>ACA479697030COL2A1c.3426A>T (p.Pro1142=)
c.3633A>T (p.Pro1211=)
n.2719A>T
n.486A>T
c.3777A>T (p.Pro1259=)
c.3774A>T (p.Pro1258=)
c.2721A>T (p.Pro907=)
c.3567A>T (p.Pro1189=)
c.3087A>T (p.Pro1029=)
12g.47975570T>CCA479697031COL2A1c.3426A>G (p.Pro1142=)
c.3633A>G (p.Pro1211=)
n.2719A>G
n.486A>G
c.3777A>G (p.Pro1259=)
c.3774A>G (p.Pro1258=)
c.2721A>G (p.Pro907=)
c.3567A>G (p.Pro1189=)
c.3087A>G (p.Pro1029=)
 gnomAD v4
12g.47975570T>GCA479697032COL2A1c.3426A>C (p.Pro1142=)
c.3633A>C (p.Pro1211=)
n.2719A>C
n.486A>C
c.3777A>C (p.Pro1259=)
c.3774A>C (p.Pro1258=)
c.2721A>C (p.Pro907=)
c.3567A>C (p.Pro1189=)
c.3087A>C (p.Pro1029=)
12g.47975571G>ACA384537119COL2A1c.3425C>T (p.Pro1142Leu)
c.3632C>T (p.Pro1211Leu)
n.2718C>T
n.485C>T
c.3776C>T (p.Pro1259Leu)
c.3773C>T (p.Pro1258Leu)
c.2720C>T (p.Pro907Leu)
c.3566C>T (p.Pro1189Leu)
c.3086C>T (p.Pro1029Leu)
12g.47975571G>CCA384537122COL2A1c.3425C>G (p.Pro1142Arg)
c.3632C>G (p.Pro1211Arg)
n.2718C>G
n.485C>G
c.3776C>G (p.Pro1259Arg)
c.3773C>G (p.Pro1258Arg)
c.2720C>G (p.Pro907Arg)
c.3566C>G (p.Pro1189Arg)
c.3086C>G (p.Pro1029Arg)
12g.47975571G>TCA384537124COL2A1c.3425C>A (p.Pro1142Gln)
c.3632C>A (p.Pro1211Gln)
n.2718C>A
n.485C>A
c.3776C>A (p.Pro1259Gln)
c.3773C>A (p.Pro1258Gln)
c.2720C>A (p.Pro907Gln)
c.3566C>A (p.Pro1189Gln)
c.3086C>A (p.Pro1029Gln)
12g.47975579_47975605delCA2499221650COL2A1c.3399_3425del (p.Gly1134_Pro1142del)
c.3606_3632del (p.Gly1203_Pro1211del)
n.2692_2718del
n.459_485del
c.3750_3776del (p.Gly1251_Pro1259del)
c.3747_3773del (p.Gly1250_Pro1258del)
c.2694_2720del (p.Gly899_Pro907del)
c.3540_3566del (p.Gly1181_Pro1189del)
c.3060_3086del (p.Gly1021_Pro1029del)
 ClinVar dbSNP
12g.47975572G>ACA384537126COL2A1c.3424C>T (p.Pro1142Ser)
c.3631C>T (p.Pro1211Ser)
n.2717C>T
n.484C>T
c.3775C>T (p.Pro1259Ser)
c.3772C>T (p.Pro1258Ser)
c.2719C>T (p.Pro907Ser)
c.3565C>T (p.Pro1189Ser)
c.3085C>T (p.Pro1029Ser)
12g.47975572G>CCA384537128COL2A1c.3424C>G (p.Pro1142Ala)
c.3631C>G (p.Pro1211Ala)
n.2717C>G
n.484C>G
c.3775C>G (p.Pro1259Ala)
c.3772C>G (p.Pro1258Ala)
c.2719C>G (p.Pro907Ala)
c.3565C>G (p.Pro1189Ala)
c.3085C>G (p.Pro1029Ala)
12g.47975572G>TCA384537129COL2A1c.3424C>A (p.Pro1142Thr)
c.3631C>A (p.Pro1211Thr)
n.2717C>A
n.484C>A
c.3775C>A (p.Pro1259Thr)
c.3772C>A (p.Pro1258Thr)
c.2719C>A (p.Pro907Thr)
c.3565C>A (p.Pro1189Thr)
c.3085C>A (p.Pro1029Thr)
12g.47975573delCA2580085675COL2A1c.3423del (p.Pro1142GlnfsTer16)
c.3630del (p.Pro1211GlnfsTer16)
n.2716del
n.483del
c.3774del (p.Pro1259GlnfsTer16)
c.3771del (p.Pro1258GlnfsTer16)
c.2718del (p.Pro907GlnfsTer16)
c.3564del (p.Pro1189GlnfsTer16)
c.3084del (p.Pro1029GlnfsTer16)
 ClinVar
12g.47975573A>CCA479697038COL2A1c.3423T>G (p.Pro1141=)
c.3630T>G (p.Pro1210=)
n.2716T>G
n.483T>G
c.3774T>G (p.Pro1258=)
c.3771T>G (p.Pro1257=)
c.2718T>G (p.Pro906=)
c.3564T>G (p.Pro1188=)
c.3084T>G (p.Pro1028=)
12g.47975573A>GCA479697039COL2A1c.3423T>C (p.Pro1141=)
c.3630T>C (p.Pro1210=)
n.2716T>C
n.483T>C
c.3774T>C (p.Pro1258=)
c.3771T>C (p.Pro1257=)
c.2718T>C (p.Pro906=)
c.3564T>C (p.Pro1188=)
c.3084T>C (p.Pro1028=)
 gnomAD v4
12g.47975573A>TCA479697040COL2A1c.3423T>A (p.Pro1141=)
c.3630T>A (p.Pro1210=)
n.2716T>A
n.483T>A
c.3774T>A (p.Pro1258=)
c.3771T>A (p.Pro1257=)
c.2718T>A (p.Pro906=)
c.3564T>A (p.Pro1188=)
c.3084T>A (p.Pro1028=)
12g.47975574G>ACA384537134COL2A1c.3422C>T (p.Pro1141Leu)
c.3629C>T (p.Pro1210Leu)
n.2715C>T
n.482C>T
c.3773C>T (p.Pro1258Leu)
c.3770C>T (p.Pro1257Leu)
c.2717C>T (p.Pro906Leu)
c.3563C>T (p.Pro1188Leu)
c.3083C>T (p.Pro1028Leu)
 COSMIC
12g.47975574G>CCA384537136COL2A1c.3422C>G (p.Pro1141Arg)
c.3629C>G (p.Pro1210Arg)
n.2715C>G
n.482C>G
c.3773C>G (p.Pro1258Arg)
c.3770C>G (p.Pro1257Arg)
c.2717C>G (p.Pro906Arg)
c.3563C>G (p.Pro1188Arg)
c.3083C>G (p.Pro1028Arg)
12g.47975574G>TCA384537132COL2A1c.3422C>A (p.Pro1141His)
c.3629C>A (p.Pro1210His)
n.2715C>A
n.482C>A
c.3773C>A (p.Pro1258His)
c.3770C>A (p.Pro1257His)
c.2717C>A (p.Pro906His)
c.3563C>A (p.Pro1188His)
c.3083C>A (p.Pro1028His)
12g.47975575G>ACA384537141COL2A1c.3421C>T (p.Pro1141Ser)
c.3628C>T (p.Pro1210Ser)
n.2714C>T
n.481C>T
c.3772C>T (p.Pro1258Ser)
c.3769C>T (p.Pro1257Ser)
c.2716C>T (p.Pro906Ser)
c.3562C>T (p.Pro1188Ser)
c.3082C>T (p.Pro1028Ser)
12g.47975575G>CCA384537138COL2A1c.3421C>G (p.Pro1141Ala)
c.3628C>G (p.Pro1210Ala)
n.2714C>G
n.481C>G
c.3772C>G (p.Pro1258Ala)
c.3769C>G (p.Pro1257Ala)
c.2716C>G (p.Pro906Ala)
c.3562C>G (p.Pro1188Ala)
c.3082C>G (p.Pro1028Ala)
 dbSNP
12g.47975575G=CA2034474258COL2A1c.3421C= (p.Pro1141=)
c.3628C= (p.Pro1210=)
n.2714C=
n.481C=
c.3772C= (p.Pro1258=)
c.3769C= (p.Pro1257=)
c.2716C= (p.Pro906=)
c.3562C= (p.Pro1188=)
c.3082C= (p.Pro1028=)
12g.47975575G>TCA384537140COL2A1c.3421C>A (p.Pro1141Thr)
c.3628C>A (p.Pro1210Thr)
n.2714C>A
n.481C>A
c.3772C>A (p.Pro1258Thr)
c.3769C>A (p.Pro1257Thr)
c.2716C>A (p.Pro906Thr)
c.3562C>A (p.Pro1188Thr)
c.3082C>A (p.Pro1028Thr)
12g.47975576A>CCA479697047COL2A1c.3420T>G (p.Gly1140=)
c.3627T>G (p.Gly1209=)
n.2713T>G
n.480T>G
c.3771T>G (p.Gly1257=)
c.3768T>G (p.Gly1256=)
c.2715T>G (p.Gly905=)
c.3561T>G (p.Gly1187=)
c.3081T>G (p.Gly1027=)
12g.47975576A>GCA479697048COL2A1c.3420T>C (p.Gly1140=)
c.3627T>C (p.Gly1209=)
n.2713T>C
n.480T>C
c.3771T>C (p.Gly1257=)
c.3768T>C (p.Gly1256=)
c.2715T>C (p.Gly905=)
c.3561T>C (p.Gly1187=)
c.3081T>C (p.Gly1027=)
12g.47975576A>TCA479697044COL2A1c.3420T>A (p.Gly1140=)
c.3627T>A (p.Gly1209=)
n.2713T>A
n.480T>A
c.3771T>A (p.Gly1257=)
c.3768T>A (p.Gly1256=)
c.2715T>A (p.Gly905=)
c.3561T>A (p.Gly1187=)
c.3081T>A (p.Gly1027=)
12g.47975577C>ACA384537144COL2A1c.3419G>T (p.Gly1140Val)
c.3626G>T (p.Gly1209Val)
n.2712G>T
n.479G>T
c.3770G>T (p.Gly1257Val)
c.3767G>T (p.Gly1256Val)
c.2714G>T (p.Gly905Val)
c.3560G>T (p.Gly1187Val)
c.3080G>T (p.Gly1027Val)
 ClinVar dbSNP
12g.47975577C=CA2034474265COL2A1c.3419G= (p.Gly1140=)
c.3626G= (p.Gly1209=)
n.2712G=
n.479G=
c.3770G= (p.Gly1257=)
c.3767G= (p.Gly1256=)
c.2714G= (p.Gly905=)
c.3560G= (p.Gly1187=)
c.3080G= (p.Gly1027=)
12g.47975577C>GCA384537146COL2A1c.3419G>C (p.Gly1140Ala)
c.3626G>C (p.Gly1209Ala)
n.2712G>C
n.479G>C
c.3770G>C (p.Gly1257Ala)
c.3767G>C (p.Gly1256Ala)
c.2714G>C (p.Gly905Ala)
c.3560G>C (p.Gly1187Ala)
c.3080G>C (p.Gly1027Ala)
12g.47975577C>TCA384537147COL2A1c.3419G>A (p.Gly1140Asp)
c.3626G>A (p.Gly1209Asp)
n.2712G>A
n.479G>A
c.3770G>A (p.Gly1257Asp)
c.3767G>A (p.Gly1256Asp)
c.2714G>A (p.Gly905Asp)
c.3560G>A (p.Gly1187Asp)
c.3080G>A (p.Gly1027Asp)
 ClinVar
12g.47975582_47975590delCA2618506950COL2A1c.3411_3419del (p.Pro1138_Gly1140del)
c.3618_3626del (p.Pro1207_Gly1209del)
n.2704_2712del
n.471_479del
c.3762_3770del (p.Pro1255_Gly1257del)
c.3759_3767del (p.Pro1254_Gly1256del)
c.2706_2714del (p.Pro903_Gly905del)
c.3552_3560del (p.Pro1185_Gly1187del)
c.3072_3080del (p.Pro1025_Gly1027del)
 gnomAD v4
12g.47975578C>ACA384537150COL2A1c.3418G>T (p.Gly1140Cys)
c.3625G>T (p.Gly1209Cys)
n.2711G>T
n.478G>T
c.3769G>T (p.Gly1257Cys)
c.3766G>T (p.Gly1256Cys)
c.2713G>T (p.Gly905Cys)
c.3559G>T (p.Gly1187Cys)
c.3079G>T (p.Gly1027Cys)
12g.47975578C>GCA384537152COL2A1c.3418G>C (p.Gly1140Arg)
c.3625G>C (p.Gly1209Arg)
n.2711G>C
n.478G>C
c.3769G>C (p.Gly1257Arg)
c.3766G>C (p.Gly1256Arg)
c.2713G>C (p.Gly905Arg)
c.3559G>C (p.Gly1187Arg)
c.3079G>C (p.Gly1027Arg)
12g.47975578C>TCA384537153COL2A1c.3418G>A (p.Gly1140Ser)
c.3625G>A (p.Gly1209Ser)
n.2711G>A
n.478G>A
c.3769G>A (p.Gly1257Ser)
c.3766G>A (p.Gly1256Ser)
c.2713G>A (p.Gly905Ser)
c.3559G>A (p.Gly1187Ser)
c.3079G>A (p.Gly1027Ser)
 COSMIC COSMIC
12g.47975578_47975579delinsCACA2034474271COL2A1c.3417_3418delinsTG (p.Pro1139=)
c.3624_3625delinsTG (p.Pro1208=)
n.2710_2711delinsTG
n.477_478delinsTG
c.3768_3769delinsTG (p.Pro1256=)
c.3765_3766delinsTG (p.Pro1255=)
c.2712_2713delinsTG (p.Pro904=)
c.3558_3559delinsTG (p.Pro1186=)
c.3078_3079delinsTG (p.Pro1026=)
12g.47975579delCA658797882COL2A1c.3417del (p.Gly1140ValfsTer18)
c.3624del (p.Gly1209ValfsTer18)
n.2710del
n.477del
c.3768del (p.Gly1257ValfsTer18)
c.3765del (p.Gly1256ValfsTer18)
c.2712del (p.Gly905ValfsTer18)
c.3558del (p.Gly1187ValfsTer18)
c.3078del (p.Gly1027ValfsTer18)
 ClinVar dbSNP
12g.47975579A=CA2034474280COL2A1c.3417T= (p.Pro1139=)
c.3624T= (p.Pro1208=)
n.2710T=
n.477T=
c.3768T= (p.Pro1256=)
c.3765T= (p.Pro1255=)
c.2712T= (p.Pro904=)
c.3558T= (p.Pro1186=)
c.3078T= (p.Pro1026=)
12g.47975579A>CCA479697059COL2A1c.3417T>G (p.Pro1139=)
c.3624T>G (p.Pro1208=)
n.2710T>G
n.477T>G
c.3768T>G (p.Pro1256=)
c.3765T>G (p.Pro1255=)
c.2712T>G (p.Pro904=)
c.3558T>G (p.Pro1186=)
c.3078T>G (p.Pro1026=)
 dbSNP
12g.47975579A>GCA479697061COL2A1c.3417T>C (p.Pro1139=)
c.3624T>C (p.Pro1208=)
n.2710T>C
n.477T>C
c.3768T>C (p.Pro1256=)
c.3765T>C (p.Pro1255=)
c.2712T>C (p.Pro904=)
c.3558T>C (p.Pro1186=)
c.3078T>C (p.Pro1026=)
12g.47975579A>TCA479697062COL2A1c.3417T>A (p.Pro1139=)
c.3624T>A (p.Pro1208=)
n.2710T>A
n.477T>A
c.3768T>A (p.Pro1256=)
c.3765T>A (p.Pro1255=)
c.2712T>A (p.Pro904=)
c.3558T>A (p.Pro1186=)
c.3078T>A (p.Pro1026=)
12g.47975579_47975580insCTCCA2795862790COL2A1c.3416_3417insGAG (p.Pro1139_Gly1140insSer)
c.3623_3624insGAG (p.Pro1208_Gly1209insSer)
n.2709_2710insGAG
n.476_477insGAG
c.3767_3768insGAG (p.Pro1256_Gly1257insSer)
c.3764_3765insGAG (p.Pro1255_Gly1256insSer)
c.2711_2712insGAG (p.Pro904_Gly905insSer)
c.3557_3558insGAG (p.Pro1186_Gly1187insSer)
c.3077_3078insGAG (p.Pro1026_Gly1027insSer)
12g.47975580G>ACA384537156COL2A1c.3416C>T (p.Pro1139Leu)
c.3623C>T (p.Pro1208Leu)
n.2709C>T
n.476C>T
c.3767C>T (p.Pro1256Leu)
c.3764C>T (p.Pro1255Leu)
c.2711C>T (p.Pro904Leu)
c.3557C>T (p.Pro1186Leu)
c.3077C>T (p.Pro1026Leu)
12g.47975580G>CCA384537158COL2A1c.3416C>G (p.Pro1139Arg)
c.3623C>G (p.Pro1208Arg)
n.2709C>G
n.476C>G
c.3767C>G (p.Pro1256Arg)
c.3764C>G (p.Pro1255Arg)
c.2711C>G (p.Pro904Arg)
c.3557C>G (p.Pro1186Arg)
c.3077C>G (p.Pro1026Arg)
 dbSNP
12g.47975580G=CA2034474285COL2A1c.3416C= (p.Pro1139=)
c.3623C= (p.Pro1208=)
n.2709C=
n.476C=
c.3767C= (p.Pro1256=)
c.3764C= (p.Pro1255=)
c.2711C= (p.Pro904=)
c.3557C= (p.Pro1186=)
c.3077C= (p.Pro1026=)
12g.47975580G>TCA384537159COL2A1c.3416C>A (p.Pro1139His)
c.3623C>A (p.Pro1208His)
n.2709C>A
n.476C>A
c.3767C>A (p.Pro1256His)
c.3764C>A (p.Pro1255His)
c.2711C>A (p.Pro904His)
c.3557C>A (p.Pro1186His)
c.3077C>A (p.Pro1026His)
12g.47975584dupCA2580085676COL2A1c.3416dup (p.Gly1140TrpfsTer?)
c.3623dup (p.Gly1209TrpfsTer?)
n.2709dup
n.476dup
c.3767dup (p.Gly1257TrpfsTer?)
c.3764dup (p.Gly1256TrpfsTer?)
c.2711dup (p.Gly905TrpfsTer?)
c.3557dup (p.Gly1187TrpfsTer?)
c.3077dup (p.Gly1027TrpfsTer?)
 ClinVar
12g.47975584delCA2499221651COL2A1c.3416del (p.Pro1139LeufsTer19)
c.3623del (p.Pro1208LeufsTer19)
n.2709del
n.476del
c.3767del (p.Pro1256LeufsTer19)
c.3764del (p.Pro1255LeufsTer19)
c.2711del (p.Pro904LeufsTer19)
c.3557del (p.Pro1186LeufsTer19)
c.3077del (p.Pro1026LeufsTer19)
 ClinVar dbSNP
12g.47975581G>ACA384537162COL2A1c.3415C>T (p.Pro1139Ser)
c.3622C>T (p.Pro1208Ser)
n.2708C>T
n.475C>T
c.3766C>T (p.Pro1256Ser)
c.3763C>T (p.Pro1255Ser)
c.2710C>T (p.Pro904Ser)
c.3556C>T (p.Pro1186Ser)
c.3076C>T (p.Pro1026Ser)
12g.47975581G>CCA384537164COL2A1c.3415C>G (p.Pro1139Ala)
c.3622C>G (p.Pro1208Ala)
n.2708C>G
n.475C>G
c.3766C>G (p.Pro1256Ala)
c.3763C>G (p.Pro1255Ala)
c.2710C>G (p.Pro904Ala)
c.3556C>G (p.Pro1186Ala)
c.3076C>G (p.Pro1026Ala)
12g.47975581G>TCA384537165COL2A1c.3415C>A (p.Pro1139Thr)
c.3622C>A (p.Pro1208Thr)
n.2708C>A
n.475C>A
c.3766C>A (p.Pro1256Thr)
c.3763C>A (p.Pro1255Thr)
c.2710C>A (p.Pro904Thr)
c.3556C>A (p.Pro1186Thr)
c.3076C>A (p.Pro1026Thr)
12g.47975582G>ACA6534680COL2A1c.3414C>T (p.Pro1138=)
c.3621C>T (p.Pro1207=)
n.2707C>T
n.474C>T
c.3765C>T (p.Pro1255=)
c.3762C>T (p.Pro1254=)
c.2709C>T (p.Pro903=)
c.3555C>T (p.Pro1185=)
c.3075C>T (p.Pro1025=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47975582G>CCA479697073COL2A1c.3414C>G (p.Pro1138=)
c.3621C>G (p.Pro1207=)
n.2707C>G
n.474C>G
c.3765C>G (p.Pro1255=)
c.3762C>G (p.Pro1254=)
c.2709C>G (p.Pro903=)
c.3555C>G (p.Pro1185=)
c.3075C>G (p.Pro1025=)
12g.47975582G=CA2034474293COL2A1c.3414C= (p.Pro1138=)
c.3621C= (p.Pro1207=)
n.2707C=
n.474C=
c.3765C= (p.Pro1255=)
c.3762C= (p.Pro1254=)
c.2709C= (p.Pro903=)
c.3555C= (p.Pro1185=)
c.3075C= (p.Pro1025=)
12g.47975582G>TCA479697071COL2A1c.3414C>A (p.Pro1138=)
c.3621C>A (p.Pro1207=)
n.2707C>A
n.474C>A
c.3765C>A (p.Pro1255=)
c.3762C>A (p.Pro1254=)
c.2709C>A (p.Pro903=)
c.3555C>A (p.Pro1185=)
c.3075C>A (p.Pro1025=)
12g.47975583G>ACA384537169COL2A1c.3413C>T (p.Pro1138Leu)
c.3620C>T (p.Pro1207Leu)
n.2706C>T
n.473C>T
c.3764C>T (p.Pro1255Leu)
c.3761C>T (p.Pro1254Leu)
c.2708C>T (p.Pro903Leu)
c.3554C>T (p.Pro1185Leu)
c.3074C>T (p.Pro1025Leu)
12g.47975583G>CCA384537170COL2A1c.3413C>G (p.Pro1138Arg)
c.3620C>G (p.Pro1207Arg)
n.2706C>G
n.473C>G
c.3764C>G (p.Pro1255Arg)
c.3761C>G (p.Pro1254Arg)
c.2708C>G (p.Pro903Arg)
c.3554C>G (p.Pro1185Arg)
c.3074C>G (p.Pro1025Arg)
12g.47975583G>TCA384537172COL2A1c.3413C>A (p.Pro1138His)
c.3620C>A (p.Pro1207His)
n.2706C>A
n.473C>A
c.3764C>A (p.Pro1255His)
c.3761C>A (p.Pro1254His)
c.2708C>A (p.Pro903His)
c.3554C>A (p.Pro1185His)
c.3074C>A (p.Pro1025His)
12g.47975583_47975584delinsTCA2695216622COL2A1c.3412_3413delinsA (p.Pro1138ThrfsTer20)
c.3619_3620delinsA (p.Pro1207ThrfsTer20)
n.2705_2706delinsA
n.472_473delinsA
c.3763_3764delinsA (p.Pro1255ThrfsTer20)
c.3760_3761delinsA (p.Pro1254ThrfsTer20)
c.2707_2708delinsA (p.Pro903ThrfsTer20)
c.3553_3554delinsA (p.Pro1185ThrfsTer20)
c.3073_3074delinsA (p.Pro1025ThrfsTer20)
12g.47975584G>ACA384537174COL2A1c.3412C>T (p.Pro1138Ser)
c.3619C>T (p.Pro1207Ser)
n.2705C>T
n.472C>T
c.3763C>T (p.Pro1255Ser)
c.3760C>T (p.Pro1254Ser)
c.2707C>T (p.Pro903Ser)
c.3553C>T (p.Pro1185Ser)
c.3073C>T (p.Pro1025Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47975584G>CCA384537176COL2A1c.3412C>G (p.Pro1138Ala)
c.3619C>G (p.Pro1207Ala)
n.2705C>G
n.472C>G
c.3763C>G (p.Pro1255Ala)
c.3760C>G (p.Pro1254Ala)
c.2707C>G (p.Pro903Ala)
c.3553C>G (p.Pro1185Ala)
c.3073C>G (p.Pro1025Ala)
12g.47975584G=CA2034474296COL2A1c.3412C= (p.Pro1138=)
c.3619C= (p.Pro1207=)
n.2705C=
n.472C=
c.3763C= (p.Pro1255=)
c.3760C= (p.Pro1254=)
c.2707C= (p.Pro903=)
c.3553C= (p.Pro1185=)
c.3073C= (p.Pro1025=)
12g.47975584G>TCA6534681COL2A1c.3412C>A (p.Pro1138Thr)
c.3619C>A (p.Pro1207Thr)
n.2705C>A
n.472C>A
c.3763C>A (p.Pro1255Thr)
c.3760C>A (p.Pro1254Thr)
c.2707C>A (p.Pro903Thr)
c.3553C>A (p.Pro1185Thr)
c.3073C>A (p.Pro1025Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47975585T>ACA479697076COL2A1c.3411A>T (p.Gly1137=)
c.3618A>T (p.Gly1206=)
n.2704A>T
n.471A>T
c.3762A>T (p.Gly1254=)
c.3759A>T (p.Gly1253=)
c.2706A>T (p.Gly902=)
c.3552A>T (p.Gly1184=)
c.3072A>T (p.Gly1024=)
12g.47975585T>CCA236517371COL2A1c.3411A>G (p.Gly1137=)
c.3618A>G (p.Gly1206=)
n.2704A>G
n.471A>G
c.3762A>G (p.Gly1254=)
c.3759A>G (p.Gly1253=)
c.2706A>G (p.Gly902=)
c.3552A>G (p.Gly1184=)
c.3072A>G (p.Gly1024=)
 dbSNP gnomAD v2 gnomAD v4
12g.47975585T>GCA479697077COL2A1c.3411A>C (p.Gly1137=)
c.3618A>C (p.Gly1206=)
n.2704A>C
n.471A>C
c.3762A>C (p.Gly1254=)
c.3759A>C (p.Gly1253=)
c.2706A>C (p.Gly902=)
c.3552A>C (p.Gly1184=)
c.3072A>C (p.Gly1024=)
12g.47975585T=CA2034474299COL2A1c.3411A= (p.Gly1137=)
c.3618A= (p.Gly1206=)
n.2704A=
n.471A=
c.3762A= (p.Gly1254=)
c.3759A= (p.Gly1253=)
c.2706A= (p.Gly902=)
c.3552A= (p.Gly1184=)
c.3072A= (p.Gly1024=)
12g.47975586C>ACA384537181COL2A1c.3410G>T (p.Gly1137Val)
c.3617G>T (p.Gly1206Val)
n.2703G>T
n.470G>T
c.3761G>T (p.Gly1254Val)
c.3758G>T (p.Gly1253Val)
c.2705G>T (p.Gly902Val)
c.3551G>T (p.Gly1184Val)
c.3071G>T (p.Gly1024Val)
12g.47975586C>GCA384537183COL2A1c.3410G>C (p.Gly1137Ala)
c.3617G>C (p.Gly1206Ala)
n.2703G>C
n.470G>C
c.3761G>C (p.Gly1254Ala)
c.3758G>C (p.Gly1253Ala)
c.2705G>C (p.Gly902Ala)
c.3551G>C (p.Gly1184Ala)
c.3071G>C (p.Gly1024Ala)
 ClinVar
12g.47975586C>TCA384537185COL2A1c.3410G>A (p.Gly1137Glu)
c.3617G>A (p.Gly1206Glu)
n.2703G>A
n.470G>A
c.3761G>A (p.Gly1254Glu)
c.3758G>A (p.Gly1253Glu)
c.2705G>A (p.Gly902Glu)
c.3551G>A (p.Gly1184Glu)
c.3071G>A (p.Gly1024Glu)
12g.47975587C>ACA384537187COL2A1c.3409G>T (p.Gly1137Ter)
c.3616G>T (p.Gly1206Ter)
n.2702G>T
n.469G>T
c.3760G>T (p.Gly1254Ter)
c.3757G>T (p.Gly1253Ter)
c.2704G>T (p.Gly902Ter)
c.3550G>T (p.Gly1184Ter)
c.3070G>T (p.Gly1024Ter)
 gnomAD v4
12g.47975587C>GCA384537188COL2A1c.3409G>C (p.Gly1137Arg)
c.3616G>C (p.Gly1206Arg)
n.2702G>C
n.469G>C
c.3760G>C (p.Gly1254Arg)
c.3757G>C (p.Gly1253Arg)
c.2704G>C (p.Gly902Arg)
c.3550G>C (p.Gly1184Arg)
c.3070G>C (p.Gly1024Arg)
12g.47975587C>TCA384537190COL2A1c.3409G>A (p.Gly1137Arg)
c.3616G>A (p.Gly1206Arg)
n.2702G>A
n.469G>A
c.3760G>A (p.Gly1254Arg)
c.3757G>A (p.Gly1253Arg)
c.2704G>A (p.Gly902Arg)
c.3550G>A (p.Gly1184Arg)
c.3070G>A (p.Gly1024Arg)
12g.47975588A=CA2034474304COL2A1c.3408T= (p.Pro1136=)
c.3615T= (p.Pro1205=)
n.2701T=
n.468T=
c.3759T= (p.Pro1253=)
c.3756T= (p.Pro1252=)
c.2703T= (p.Pro901=)
c.3549T= (p.Pro1183=)
c.3069T= (p.Pro1023=)
12g.47975588A>CCA479697082COL2A1c.3408T>G (p.Pro1136=)
c.3615T>G (p.Pro1205=)
n.2701T>G
n.468T>G
c.3759T>G (p.Pro1253=)
c.3756T>G (p.Pro1252=)
c.2703T>G (p.Pro901=)
c.3549T>G (p.Pro1183=)
c.3069T>G (p.Pro1023=)
12g.47975588A>GCA479697084COL2A1c.3408T>C (p.Pro1136=)
c.3615T>C (p.Pro1205=)
n.2701T>C
n.468T>C
c.3759T>C (p.Pro1253=)
c.3756T>C (p.Pro1252=)
c.2703T>C (p.Pro901=)
c.3549T>C (p.Pro1183=)
c.3069T>C (p.Pro1023=)
 dbSNP gnomAD v3 gnomAD v4
12g.47975588A>TCA479697085COL2A1c.3408T>A (p.Pro1136=)
c.3615T>A (p.Pro1205=)
n.2701T>A
n.468T>A
c.3759T>A (p.Pro1253=)
c.3756T>A (p.Pro1252=)
c.2703T>A (p.Pro901=)
c.3549T>A (p.Pro1183=)
c.3069T>A (p.Pro1023=)
12g.47975589G>ACA384537196COL2A1c.3407C>T (p.Pro1136Leu)
c.3614C>T (p.Pro1205Leu)
n.2700C>T
n.467C>T
c.3758C>T (p.Pro1253Leu)
c.3755C>T (p.Pro1252Leu)
c.2702C>T (p.Pro901Leu)
c.3548C>T (p.Pro1183Leu)
c.3068C>T (p.Pro1023Leu)
 COSMIC COSMIC
12g.47975589G>CCA384537194COL2A1c.3407C>G (p.Pro1136Arg)
c.3614C>G (p.Pro1205Arg)
n.2700C>G
n.467C>G
c.3758C>G (p.Pro1253Arg)
c.3755C>G (p.Pro1252Arg)
c.2702C>G (p.Pro901Arg)
c.3548C>G (p.Pro1183Arg)
c.3068C>G (p.Pro1023Arg)
12g.47975589G>TCA384537193COL2A1c.3407C>A (p.Pro1136His)
c.3614C>A (p.Pro1205His)
n.2700C>A
n.467C>A
c.3758C>A (p.Pro1253His)
c.3755C>A (p.Pro1252His)
c.2702C>A (p.Pro901His)
c.3548C>A (p.Pro1183His)
c.3068C>A (p.Pro1023His)
 gnomAD v4
12g.47975590G>ACA384537199COL2A1c.3406C>T (p.Pro1136Ser)
c.3613C>T (p.Pro1205Ser)
n.2699C>T
n.466C>T
c.3757C>T (p.Pro1253Ser)
c.3754C>T (p.Pro1252Ser)
c.2701C>T (p.Pro901Ser)
c.3547C>T (p.Pro1183Ser)
c.3067C>T (p.Pro1023Ser)
 gnomAD v4
12g.47975590G>CCA384537203COL2A1c.3406C>G (p.Pro1136Ala)
c.3613C>G (p.Pro1205Ala)
n.2699C>G
n.466C>G
c.3757C>G (p.Pro1253Ala)
c.3754C>G (p.Pro1252Ala)
c.2701C>G (p.Pro901Ala)
c.3547C>G (p.Pro1183Ala)
c.3067C>G (p.Pro1023Ala)
12g.47975590G>TCA384537200COL2A1c.3406C>A (p.Pro1136Thr)
c.3613C>A (p.Pro1205Thr)
n.2699C>A
n.466C>A
c.3757C>A (p.Pro1253Thr)
c.3754C>A (p.Pro1252Thr)
c.2701C>A (p.Pro901Thr)
c.3547C>A (p.Pro1183Thr)
c.3067C>A (p.Pro1023Thr)
 gnomAD v4
12g.47975591A>CCA384537205COL2A1c.3405T>G (p.Asn1135Lys)
c.3612T>G (p.Asn1204Lys)
n.2698T>G
n.465T>G
c.3756T>G (p.Asn1252Lys)
c.3753T>G (p.Asn1251Lys)
c.2700T>G (p.Asn900Lys)
c.3546T>G (p.Asn1182Lys)
c.3066T>G (p.Asn1022Lys)
12g.47975591A>GCA479697087COL2A1c.3405T>C (p.Asn1135=)
c.3612T>C (p.Asn1204=)
n.2698T>C
n.465T>C
c.3756T>C (p.Asn1252=)
c.3753T>C (p.Asn1251=)
c.2700T>C (p.Asn900=)
c.3546T>C (p.Asn1182=)
c.3066T>C (p.Asn1022=)
12g.47975591A>TCA384537207COL2A1c.3405T>A (p.Asn1135Lys)
c.3612T>A (p.Asn1204Lys)
n.2698T>A
n.465T>A
c.3756T>A (p.Asn1252Lys)
c.3753T>A (p.Asn1251Lys)
c.2700T>A (p.Asn900Lys)
c.3546T>A (p.Asn1182Lys)
c.3066T>A (p.Asn1022Lys)
12g.47975592T>ACA384537209COL2A1c.3404A>T (p.Asn1135Ile)
c.3611A>T (p.Asn1204Ile)
n.2697A>T
n.464A>T
c.3755A>T (p.Asn1252Ile)
c.3752A>T (p.Asn1251Ile)
c.2699A>T (p.Asn900Ile)
c.3545A>T (p.Asn1182Ile)
c.3065A>T (p.Asn1022Ile)
12g.47975592T>CCA384537211COL2A1c.3404A>G (p.Asn1135Ser)
c.3611A>G (p.Asn1204Ser)
n.2697A>G
n.464A>G
c.3755A>G (p.Asn1252Ser)
c.3752A>G (p.Asn1251Ser)
c.2699A>G (p.Asn900Ser)
c.3545A>G (p.Asn1182Ser)
c.3065A>G (p.Asn1022Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47975592T>GCA384537212COL2A1c.3404A>C (p.Asn1135Thr)
c.3611A>C (p.Asn1204Thr)
n.2697A>C
n.464A>C
c.3755A>C (p.Asn1252Thr)
c.3752A>C (p.Asn1251Thr)
c.2699A>C (p.Asn900Thr)
c.3545A>C (p.Asn1182Thr)
c.3065A>C (p.Asn1022Thr)
12g.47975592T=CA2034474306COL2A1c.3404A= (p.Asn1135=)
c.3611A= (p.Asn1204=)
n.2697A=
n.464A=
c.3755A= (p.Asn1252=)
c.3752A= (p.Asn1251=)
c.2699A= (p.Asn900=)
c.3545A= (p.Asn1182=)
c.3065A= (p.Asn1022=)
12g.47975593T>ACA384537213COL2A1c.3403A>T (p.Asn1135Tyr)
c.3610A>T (p.Asn1204Tyr)
n.2696A>T
n.463A>T
c.3754A>T (p.Asn1252Tyr)
c.3751A>T (p.Asn1251Tyr)
c.2698A>T (p.Asn900Tyr)
c.3544A>T (p.Asn1182Tyr)
c.3064A>T (p.Asn1022Tyr)
12g.47975593T>CCA384537214COL2A1c.3403A>G (p.Asn1135Asp)
c.3610A>G (p.Asn1204Asp)
n.2696A>G
n.463A>G
c.3754A>G (p.Asn1252Asp)
c.3751A>G (p.Asn1251Asp)
c.2698A>G (p.Asn900Asp)
c.3544A>G (p.Asn1182Asp)
c.3064A>G (p.Asn1022Asp)
12g.47975593T>GCA384537215COL2A1c.3403A>C (p.Asn1135His)
c.3610A>C (p.Asn1204His)
n.2696A>C
n.463A>C
c.3754A>C (p.Asn1252His)
c.3751A>C (p.Asn1251His)
c.2698A>C (p.Asn900His)
c.3544A>C (p.Asn1182His)
c.3064A>C (p.Asn1022His)
12g.47975594T>ACA479697092COL2A1c.3402A>T (p.Gly1134=)
c.3609A>T (p.Gly1203=)
n.2695A>T
n.462A>T
c.3753A>T (p.Gly1251=)
c.3750A>T (p.Gly1250=)
c.2697A>T (p.Gly899=)
c.3543A>T (p.Gly1181=)
c.3063A>T (p.Gly1021=)
12g.47975594T>CCA479697093COL2A1c.3402A>G (p.Gly1134=)
c.3609A>G (p.Gly1203=)
n.2695A>G
n.462A>G
c.3753A>G (p.Gly1251=)
c.3750A>G (p.Gly1250=)
c.2697A>G (p.Gly899=)
c.3543A>G (p.Gly1181=)
c.3063A>G (p.Gly1021=)
12g.47975594T>GCA479697095COL2A1c.3402A>C (p.Gly1134=)
c.3609A>C (p.Gly1203=)
n.2695A>C
n.462A>C
c.3753A>C (p.Gly1251=)
c.3750A>C (p.Gly1250=)
c.2697A>C (p.Gly899=)
c.3543A>C (p.Gly1181=)
c.3063A>C (p.Gly1021=)
12g.47975595C>ACA384537216COL2A1c.3401G>T (p.Gly1134Val)
c.3608G>T (p.Gly1203Val)
n.2694G>T
n.461G>T
c.3752G>T (p.Gly1251Val)
c.3749G>T (p.Gly1250Val)
c.2696G>T (p.Gly899Val)
c.3542G>T (p.Gly1181Val)
c.3062G>T (p.Gly1021Val)
12g.47975595C>GCA384537217COL2A1c.3401G>C (p.Gly1134Ala)
c.3608G>C (p.Gly1203Ala)
n.2694G>C
n.461G>C
c.3752G>C (p.Gly1251Ala)
c.3749G>C (p.Gly1250Ala)
c.2696G>C (p.Gly899Ala)
c.3542G>C (p.Gly1181Ala)
c.3062G>C (p.Gly1021Ala)
12g.47975595C>TCA384537218COL2A1c.3401G>A (p.Gly1134Glu)
c.3608G>A (p.Gly1203Glu)
n.2694G>A
n.461G>A
c.3752G>A (p.Gly1251Glu)
c.3749G>A (p.Gly1250Glu)
c.2696G>A (p.Gly899Glu)
c.3542G>A (p.Gly1181Glu)
c.3062G>A (p.Gly1021Glu)
 COSMIC COSMIC
12g.47975611_47976075delCA2573148599COL2A1c.3294_3401del
c.3501_3608del
n.2587_2694del
n.354_461del
c.3645_3752del
c.3642_3749del
c.2589_2696del
c.3435_3542del
c.2955_3062del
 ClinVar
12g.47975596C>ACA384537221COL2A1c.3400G>T (p.Gly1134Ter)
c.3607G>T (p.Gly1203Ter)
n.2693G>T
n.460G>T
c.3751G>T (p.Gly1251Ter)
c.3748G>T (p.Gly1250Ter)
c.2695G>T (p.Gly899Ter)
c.3541G>T (p.Gly1181Ter)
c.3061G>T (p.Gly1021Ter)
12g.47975596C>GCA384537220COL2A1c.3400G>C (p.Gly1134Arg)
c.3607G>C (p.Gly1203Arg)
n.2693G>C
n.460G>C
c.3751G>C (p.Gly1251Arg)
c.3748G>C (p.Gly1250Arg)
c.2695G>C (p.Gly899Arg)
c.3541G>C (p.Gly1181Arg)
c.3061G>C (p.Gly1021Arg)
12g.47975596C>TCA384537219COL2A1c.3400G>A (p.Gly1134Arg)
c.3607G>A (p.Gly1203Arg)
n.2693G>A
n.460G>A
c.3751G>A (p.Gly1251Arg)
c.3748G>A (p.Gly1250Arg)
c.2695G>A (p.Gly899Arg)
c.3541G>A (p.Gly1181Arg)
c.3061G>A (p.Gly1021Arg)
12g.47975597A=CA2034474308COL2A1c.3399T= (p.Pro1133=)
c.3606T= (p.Pro1202=)
n.2692T=
n.459T=
c.3750T= (p.Pro1250=)
c.3747T= (p.Pro1249=)
c.2694T= (p.Pro898=)
c.3540T= (p.Pro1180=)
c.3060T= (p.Pro1020=)
12g.47975597A>CCA479697103COL2A1c.3399T>G (p.Pro1133=)
c.3606T>G (p.Pro1202=)
n.2692T>G
n.459T>G
c.3750T>G (p.Pro1250=)
c.3747T>G (p.Pro1249=)
c.2694T>G (p.Pro898=)
c.3540T>G (p.Pro1180=)
c.3060T>G (p.Pro1020=)
12g.47975597A>GCA236517372COL2A1c.3399T>C (p.Pro1133=)
c.3606T>C (p.Pro1202=)
n.2692T>C
n.459T>C
c.3750T>C (p.Pro1250=)
c.3747T>C (p.Pro1249=)
c.2694T>C (p.Pro898=)
c.3540T>C (p.Pro1180=)
c.3060T>C (p.Pro1020=)
 dbSNP
12g.47975597A>TCA479697100COL2A1c.3399T>A (p.Pro1133=)
c.3606T>A (p.Pro1202=)
n.2692T>A
n.459T>A
c.3750T>A (p.Pro1250=)
c.3747T>A (p.Pro1249=)
c.2694T>A (p.Pro898=)
c.3540T>A (p.Pro1180=)
c.3060T>A (p.Pro1020=)
12g.47975598G>ACA384537222COL2A1c.3398C>T (p.Pro1133Leu)
c.3605C>T (p.Pro1202Leu)
n.2691C>T
n.458C>T
c.3749C>T (p.Pro1250Leu)
c.3746C>T (p.Pro1249Leu)
c.2693C>T (p.Pro898Leu)
c.3539C>T (p.Pro1180Leu)
c.3059C>T (p.Pro1020Leu)
12g.47975598G>CCA384537223COL2A1c.3398C>G (p.Pro1133Arg)
c.3605C>G (p.Pro1202Arg)
n.2691C>G
n.458C>G
c.3749C>G (p.Pro1250Arg)
c.3746C>G (p.Pro1249Arg)
c.2693C>G (p.Pro898Arg)
c.3539C>G (p.Pro1180Arg)
c.3059C>G (p.Pro1020Arg)
12g.47975598G>TCA384537224COL2A1c.3398C>A (p.Pro1133His)
c.3605C>A (p.Pro1202His)
n.2691C>A
n.458C>A
c.3749C>A (p.Pro1250His)
c.3746C>A (p.Pro1249His)
c.2693C>A (p.Pro898His)
c.3539C>A (p.Pro1180His)
c.3059C>A (p.Pro1020His)
12g.47975599G>ACA384537225COL2A1c.3397C>T (p.Pro1133Ser)
c.3604C>T (p.Pro1202Ser)
n.2690C>T
n.457C>T
c.3748C>T (p.Pro1250Ser)
c.3745C>T (p.Pro1249Ser)
c.2692C>T (p.Pro898Ser)
c.3538C>T (p.Pro1180Ser)
c.3058C>T (p.Pro1020Ser)
 gnomAD v4
12g.47975599G>CCA384537226COL2A1c.3397C>G (p.Pro1133Ala)
c.3604C>G (p.Pro1202Ala)
n.2690C>G
n.457C>G
c.3748C>G (p.Pro1250Ala)
c.3745C>G (p.Pro1249Ala)
c.2692C>G (p.Pro898Ala)
c.3538C>G (p.Pro1180Ala)
c.3058C>G (p.Pro1020Ala)
12g.47975599G=CA2034474311COL2A1c.3397C= (p.Pro1133=)
c.3604C= (p.Pro1202=)
n.2690C=
n.457C=
c.3748C= (p.Pro1250=)
c.3745C= (p.Pro1249=)
c.2692C= (p.Pro898=)
c.3538C= (p.Pro1180=)
c.3058C= (p.Pro1020=)
12g.47975599G>TCA384537227COL2A1c.3397C>A (p.Pro1133Thr)
c.3604C>A (p.Pro1202Thr)
n.2690C>A
n.457C>A
c.3748C>A (p.Pro1250Thr)
c.3745C>A (p.Pro1249Thr)
c.2692C>A (p.Pro898Thr)
c.3538C>A (p.Pro1180Thr)
c.3058C>A (p.Pro1020Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.47975600A>CCA479697107COL2A1c.3396T>G (p.Pro1132=)
c.3603T>G (p.Pro1201=)
n.2689T>G
n.456T>G
c.3747T>G (p.Pro1249=)
c.3744T>G (p.Pro1248=)
c.2691T>G (p.Pro897=)
c.3537T>G (p.Pro1179=)
c.3057T>G (p.Pro1019=)
12g.47975600A>GCA479697108COL2A1c.3396T>C (p.Pro1132=)
c.3603T>C (p.Pro1201=)
n.2689T>C
n.456T>C
c.3747T>C (p.Pro1249=)
c.3744T>C (p.Pro1248=)
c.2691T>C (p.Pro897=)
c.3537T>C (p.Pro1179=)
c.3057T>C (p.Pro1019=)
12g.47975600A>TCA479697111COL2A1c.3396T>A (p.Pro1132=)
c.3603T>A (p.Pro1201=)
n.2689T>A
n.456T>A
c.3747T>A (p.Pro1249=)
c.3744T>A (p.Pro1248=)
c.2691T>A (p.Pro897=)
c.3537T>A (p.Pro1179=)
c.3057T>A (p.Pro1019=)
12g.47975601G>ACA384537228COL2A1c.3395C>T (p.Pro1132Leu)
c.3602C>T (p.Pro1201Leu)
n.2688C>T
n.455C>T
c.3746C>T (p.Pro1249Leu)
c.3743C>T (p.Pro1248Leu)
c.2690C>T (p.Pro897Leu)
c.3536C>T (p.Pro1179Leu)
c.3056C>T (p.Pro1019Leu)
12g.47975601G>CCA384537229COL2A1c.3395C>G (p.Pro1132Arg)
c.3602C>G (p.Pro1201Arg)
n.2688C>G
n.455C>G
c.3746C>G (p.Pro1249Arg)
c.3743C>G (p.Pro1248Arg)
c.2690C>G (p.Pro897Arg)
c.3536C>G (p.Pro1179Arg)
c.3056C>G (p.Pro1019Arg)
12g.47975601G>TCA384537230COL2A1c.3395C>A (p.Pro1132His)
c.3602C>A (p.Pro1201His)
n.2688C>A
n.455C>A
c.3746C>A (p.Pro1249His)
c.3743C>A (p.Pro1248His)
c.2690C>A (p.Pro897His)
c.3536C>A (p.Pro1179His)
c.3056C>A (p.Pro1019His)
12g.47975602G>ACA384537231COL2A1c.3394C>T (p.Pro1132Ser)
c.3601C>T (p.Pro1201Ser)
n.2687C>T
n.454C>T
c.3745C>T (p.Pro1249Ser)
c.3742C>T (p.Pro1248Ser)
c.2689C>T (p.Pro897Ser)
c.3535C>T (p.Pro1179Ser)
c.3055C>T (p.Pro1019Ser)
12g.47975602G>CCA384537232COL2A1c.3394C>G (p.Pro1132Ala)
c.3601C>G (p.Pro1201Ala)
n.2687C>G
n.454C>G
c.3745C>G (p.Pro1249Ala)
c.3742C>G (p.Pro1248Ala)
c.2689C>G (p.Pro897Ala)
c.3535C>G (p.Pro1179Ala)
c.3055C>G (p.Pro1019Ala)
12g.47975602G>TCA384537233COL2A1c.3394C>A (p.Pro1132Thr)
c.3601C>A (p.Pro1201Thr)
n.2687C>A
n.454C>A
c.3745C>A (p.Pro1249Thr)
c.3742C>A (p.Pro1248Thr)
c.2689C>A (p.Pro897Thr)
c.3535C>A (p.Pro1179Thr)
c.3055C>A (p.Pro1019Thr)
12g.47975603A=CA2034474314COL2A1c.3393T= (p.Gly1131=)
c.3600T= (p.Gly1200=)
n.2686T=
n.453T=
c.3744T= (p.Gly1248=)
c.3741T= (p.Gly1247=)
c.2688T= (p.Gly896=)
c.3534T= (p.Gly1178=)
c.3054T= (p.Gly1018=)
12g.47975603A>CCA479697119COL2A1c.3393T>G (p.Gly1131=)
c.3600T>G (p.Gly1200=)
n.2686T>G
n.453T>G
c.3744T>G (p.Gly1248=)
c.3741T>G (p.Gly1247=)
c.2688T>G (p.Gly896=)
c.3534T>G (p.Gly1178=)
c.3054T>G (p.Gly1018=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47975603A>GCA479697117COL2A1c.3393T>C (p.Gly1131=)
c.3600T>C (p.Gly1200=)
n.2686T>C
n.453T>C
c.3744T>C (p.Gly1248=)
c.3741T>C (p.Gly1247=)
c.2688T>C (p.Gly896=)
c.3534T>C (p.Gly1178=)
c.3054T>C (p.Gly1018=)
 dbSNP
12g.47975603A>TCA479697118COL2A1c.3393T>A (p.Gly1131=)
c.3600T>A (p.Gly1200=)
n.2686T>A
n.453T>A
c.3744T>A (p.Gly1248=)
c.3741T>A (p.Gly1247=)
c.2688T>A (p.Gly896=)
c.3534T>A (p.Gly1178=)
c.3054T>A (p.Gly1018=)
12g.47975604C>ACA384537234COL2A1c.3392G>T (p.Gly1131Val)
c.3599G>T (p.Gly1200Val)
n.2685G>T
n.452G>T
c.3743G>T (p.Gly1248Val)
c.3740G>T (p.Gly1247Val)
c.2687G>T (p.Gly896Val)
c.3533G>T (p.Gly1178Val)
c.3053G>T (p.Gly1018Val)
 dbSNP gnomAD v2
12g.47975604C=CA2034474319COL2A1c.3392G= (p.Gly1131=)
c.3599G= (p.Gly1200=)
n.2685G=
n.452G=
c.3743G= (p.Gly1248=)
c.3740G= (p.Gly1247=)
c.2687G= (p.Gly896=)
c.3533G= (p.Gly1178=)
c.3053G= (p.Gly1018=)
12g.47975604C>GCA384537236COL2A1c.3392G>C (p.Gly1131Ala)
c.3599G>C (p.Gly1200Ala)
n.2685G>C
n.452G>C
c.3743G>C (p.Gly1248Ala)
c.3740G>C (p.Gly1247Ala)
c.2687G>C (p.Gly896Ala)
c.3533G>C (p.Gly1178Ala)
c.3053G>C (p.Gly1018Ala)
12g.47975604C>TCA384537235COL2A1c.3392G>A (p.Gly1131Asp)
c.3599G>A (p.Gly1200Asp)
n.2685G>A
n.452G>A
c.3743G>A (p.Gly1248Asp)
c.3740G>A (p.Gly1247Asp)
c.2687G>A (p.Gly896Asp)
c.3533G>A (p.Gly1178Asp)
c.3053G>A (p.Gly1018Asp)
 ClinVar dbSNP
12g.47975606delCA2697559177COL2A1c.3392del
c.3599del
n.2685del
n.452del
c.3743del
c.3740del
c.2687del
c.3533del
c.3053del
 ClinVar
12g.47975605C>ACA384537237COL2A1c.3391G>T (p.Gly1131Cys)
c.3598G>T (p.Gly1200Cys)
n.2684G>T
n.451G>T
c.3742G>T (p.Gly1248Cys)
c.3739G>T (p.Gly1247Cys)
c.2686G>T (p.Gly896Cys)
c.3532G>T (p.Gly1178Cys)
c.3052G>T (p.Gly1018Cys)
12g.47975605C>GCA384537239COL2A1c.3391G>C (p.Gly1131Arg)
c.3598G>C (p.Gly1200Arg)
n.2684G>C
n.451G>C
c.3742G>C (p.Gly1248Arg)
c.3739G>C (p.Gly1247Arg)
c.2686G>C (p.Gly896Arg)
c.3532G>C (p.Gly1178Arg)
c.3052G>C (p.Gly1018Arg)
12g.47975605C>TCA384537238COL2A1c.3391G>A (p.Gly1131Ser)
c.3598G>A (p.Gly1200Ser)
n.2684G>A
n.451G>A
c.3742G>A (p.Gly1248Ser)
c.3739G>A (p.Gly1247Ser)
c.2686G>A (p.Gly896Ser)
c.3532G>A (p.Gly1178Ser)
c.3052G>A (p.Gly1018Ser)
 COSMIC COSMIC
12g.47975606C>ACA384537240COL2A1c.3391-1G>T (n.3391-1G>T)
c.3598-1G>T (n.3598-1G>T)
n.2684-1G>T
n.451-1G>T
c.3742-1G>T (n.3742-1G>T)
c.3739-1G>T (n.3739-1G>T)
c.2686-1G>T (n.2686-1G>T)
c.3532-1G>T (n.3532-1G>T)
c.3052-1G>T (n.3052-1G>T)
 gnomAD v4
12g.47975606C=CA2034474325COL2A1c.3391-1G= (n.3391-1G=)
c.3598-1G= (n.3598-1G=)
n.2684-1G=
n.451-1G=
c.3742-1G= (n.3742-1G=)
c.3739-1G= (n.3739-1G=)
c.2686-1G= (n.2686-1G=)
c.3532-1G= (n.3532-1G=)
c.3052-1G= (n.3052-1G=)
12g.47975606C>GCA384537242COL2A1c.3391-1G>C (n.3391-1G>C)
c.3598-1G>C (n.3598-1G>C)
n.2684-1G>C
n.451-1G>C
c.3742-1G>C (n.3742-1G>C)
c.3739-1G>C (n.3739-1G>C)
c.2686-1G>C (n.2686-1G>C)
c.3532-1G>C (n.3532-1G>C)
c.3052-1G>C (n.3052-1G>C)
12g.47975606C>TCA384537241COL2A1c.3391-1G>A (n.3391-1G>A)
c.3598-1G>A (n.3598-1G>A)
n.2684-1G>A
n.451-1G>A
c.3742-1G>A (n.3742-1G>A)
c.3739-1G>A (n.3739-1G>A)
c.2686-1G>A (n.2686-1G>A)
c.3532-1G>A (n.3532-1G>A)
c.3052-1G>A (n.3052-1G>A)
 ClinVar dbSNP
12g.47975606_47975617delCA2795862796COL2A1c.3391-12_3391-1del (n.3391-12_3391-1del)
c.3598-12_3598-1del (n.3598-12_3598-1del)
n.2684-12_2684-1del
n.451-12_451-1del
c.3742-12_3742-1del (n.3742-12_3742-1del)
c.3739-12_3739-1del (n.3739-12_3739-1del)
c.2686-12_2686-1del (n.2686-12_2686-1del)
c.3532-12_3532-1del (n.3532-12_3532-1del)
c.3052-12_3052-1del (n.3052-12_3052-1del)
12g.47975607T>ACA384537243COL2A1c.3391-2A>T (n.3391-2A>T)
c.3598-2A>T (n.3598-2A>T)
n.2684-2A>T
n.451-2A>T
c.3742-2A>T (n.3742-2A>T)
c.3739-2A>T (n.3739-2A>T)
c.2686-2A>T (n.2686-2A>T)
c.3532-2A>T (n.3532-2A>T)
c.3052-2A>T (n.3052-2A>T)
12g.47975607T>CCA384537245COL2A1c.3391-2A>G (n.3391-2A>G)
c.3598-2A>G (n.3598-2A>G)
n.2684-2A>G
n.451-2A>G
c.3742-2A>G (n.3742-2A>G)
c.3739-2A>G (n.3739-2A>G)
c.2686-2A>G (n.2686-2A>G)
c.3532-2A>G (n.3532-2A>G)
c.3052-2A>G (n.3052-2A>G)
 ClinVar dbSNP
12g.47975607T>GCA384537244COL2A1c.3391-2A>C (n.3391-2A>C)
c.3598-2A>C (n.3598-2A>C)
n.2684-2A>C
n.451-2A>C
c.3742-2A>C (n.3742-2A>C)
c.3739-2A>C (n.3739-2A>C)
c.2686-2A>C (n.2686-2A>C)
c.3532-2A>C (n.3532-2A>C)
c.3052-2A>C (n.3052-2A>C)
12g.47975608G>ACA605231499COL2A1c.3391-3C>T (n.3391-3C>T)
c.3598-3C>T (n.3598-3C>T)
n.2684-3C>T
n.451-3C>T
c.3742-3C>T (n.3742-3C>T)
c.3739-3C>T (n.3739-3C>T)
c.2686-3C>T (n.2686-3C>T)
c.3532-3C>T (n.3532-3C>T)
c.3052-3C>T (n.3052-3C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47975608G>CCA2573148601COL2A1c.3391-3C>G (n.3391-3C>G)
c.3598-3C>G (n.3598-3C>G)
n.2684-3C>G
n.451-3C>G
c.3742-3C>G (n.3742-3C>G)
c.3739-3C>G (n.3739-3C>G)
c.2686-3C>G (n.2686-3C>G)
c.3532-3C>G (n.3532-3C>G)
c.3052-3C>G (n.3052-3C>G)
 ClinVar dbSNP
12g.47975608G=CA2034474329COL2A1c.3391-3C= (n.3391-3C=)
c.3598-3C= (n.3598-3C=)
n.2684-3C=
n.451-3C=
c.3742-3C= (n.3742-3C=)
c.3739-3C= (n.3739-3C=)
c.2686-3C= (n.2686-3C=)
c.3532-3C= (n.3532-3C=)
c.3052-3C= (n.3052-3C=)
12g.47975608G>TCA605231500COL2A1c.3391-3C>A (n.3391-3C>A)
c.3598-3C>A (n.3598-3C>A)
n.2684-3C>A
n.451-3C>A
c.3742-3C>A (n.3742-3C>A)
c.3739-3C>A (n.3739-3C>A)
c.2686-3C>A (n.2686-3C>A)
c.3532-3C>A (n.3532-3C>A)
c.3052-3C>A (n.3052-3C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47975608_47975612delCA2795862799COL2A1c.3391-7_3391-3del (n.3391-7_3391-3del)
c.3598-7_3598-3del (n.3598-7_3598-3del)
n.2684-7_2684-3del
n.451-7_451-3del
c.3742-7_3742-3del (n.3742-7_3742-3del)
c.3739-7_3739-3del (n.3739-7_3739-3del)
c.2686-7_2686-3del (n.2686-7_2686-3del)
c.3532-7_3532-3del (n.3532-7_3532-3del)
c.3052-7_3052-3del (n.3052-7_3052-3del)
12g.47975609C>ACA2034474331COL2A1c.3391-4G>T (n.3391-4G>T)
c.3598-4G>T (n.3598-4G>T)
n.2684-4G>T
n.451-4G>T
c.3742-4G>T (n.3742-4G>T)
c.3739-4G>T (n.3739-4G>T)
c.2686-4G>T (n.2686-4G>T)
c.3532-4G>T (n.3532-4G>T)
c.3052-4G>T (n.3052-4G>T)
 ClinVar dbSNP gnomAD v4
12g.47975609C=CA2034474332COL2A1c.3391-4G= (n.3391-4G=)
c.3598-4G= (n.3598-4G=)
n.2684-4G=
n.451-4G=
c.3742-4G= (n.3742-4G=)
c.3739-4G= (n.3739-4G=)
c.2686-4G= (n.2686-4G=)
c.3532-4G= (n.3532-4G=)
c.3052-4G= (n.3052-4G=)
12g.47975609C>TCA2618506990COL2A1c.3391-4G>A (n.3391-4G>A)
c.3598-4G>A (n.3598-4G>A)
n.2684-4G>A
n.451-4G>A
c.3742-4G>A (n.3742-4G>A)
c.3739-4G>A (n.3739-4G>A)
c.2686-4G>A (n.2686-4G>A)
c.3532-4G>A (n.3532-4G>A)
c.3052-4G>A (n.3052-4G>A)
 gnomAD v4
12g.47975610A=CA2034474334COL2A1c.3391-5T= (n.3391-5T=)
c.3598-5T= (n.3598-5T=)
n.2684-5T=
n.451-5T=
c.3742-5T= (n.3742-5T=)
c.3739-5T= (n.3739-5T=)
c.2686-5T= (n.2686-5T=)
c.3532-5T= (n.3532-5T=)
c.3052-5T= (n.3052-5T=)
12g.47975610A>GCA689464021COL2A1c.3391-5T>C (n.3391-5T>C)
c.3598-5T>C (n.3598-5T>C)
n.2684-5T>C
n.451-5T>C
c.3742-5T>C (n.3742-5T>C)
c.3739-5T>C (n.3739-5T>C)
c.2686-5T>C (n.2686-5T>C)
c.3532-5T>C (n.3532-5T>C)
c.3052-5T>C (n.3052-5T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47975611G>ACA605231501COL2A1c.3391-6C>T (n.3391-6C>T)
c.3598-6C>T (n.3598-6C>T)
n.2684-6C>T
n.451-6C>T
c.3742-6C>T (n.3742-6C>T)
c.3739-6C>T (n.3739-6C>T)
c.2686-6C>T (n.2686-6C>T)
c.3532-6C>T (n.3532-6C>T)
c.3052-6C>T (n.3052-6C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47975611G>CCA236517374COL2A1c.3391-6C>G (n.3391-6C>G)
c.3598-6C>G (n.3598-6C>G)
n.2684-6C>G
n.451-6C>G
c.3742-6C>G (n.3742-6C>G)
c.3739-6C>G (n.3739-6C>G)
c.2686-6C>G (n.2686-6C>G)
c.3532-6C>G (n.3532-6C>G)
c.3052-6C>G (n.3052-6C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47975611G=CA2034474337COL2A1c.3391-6C= (n.3391-6C=)
c.3598-6C= (n.3598-6C=)
n.2684-6C=
n.451-6C=
c.3742-6C= (n.3742-6C=)
c.3739-6C= (n.3739-6C=)
c.2686-6C= (n.2686-6C=)
c.3532-6C= (n.3532-6C=)
c.3052-6C= (n.3052-6C=)
12g.47975611G>TCA2618507021COL2A1c.3391-6C>A (n.3391-6C>A)
c.3598-6C>A (n.3598-6C>A)
n.2684-6C>A
n.451-6C>A
c.3742-6C>A (n.3742-6C>A)
c.3739-6C>A (n.3739-6C>A)
c.2686-6C>A (n.2686-6C>A)
c.3532-6C>A (n.3532-6C>A)
c.3052-6C>A (n.3052-6C>A)
 gnomAD v4

Number of alleles fetched