Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47974287G>ACA236516106COL2A1c.3912C>T (p.Val1304=)
c.4119C>T (p.Val1373=)
n.3205C>T
c.4263C>T (p.Val1421=)
c.4260C>T (p.Val1420=)
c.3207C>T (p.Val1069=)
c.4053C>T (p.Val1351=)
c.3573C>T (p.Val1191=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47974287G>CCA479450251COL2A1c.3912C>G (p.Val1304=)
c.4119C>G (p.Val1373=)
n.3205C>G
c.4263C>G (p.Val1421=)
c.4260C>G (p.Val1420=)
c.3207C>G (p.Val1069=)
c.4053C>G (p.Val1351=)
c.3573C>G (p.Val1191=)
12g.47974287G=CA2034471897COL2A1c.3912C= (p.Val1304=)
c.4119C= (p.Val1373=)
n.3205C=
c.4263C= (p.Val1421=)
c.4260C= (p.Val1420=)
c.3207C= (p.Val1069=)
c.4053C= (p.Val1351=)
c.3573C= (p.Val1191=)
12g.47974287G>TCA479450252COL2A1c.3912C>A (p.Val1304=)
c.4119C>A (p.Val1373=)
n.3205C>A
c.4263C>A (p.Val1421=)
c.4260C>A (p.Val1420=)
c.3207C>A (p.Val1069=)
c.4053C>A (p.Val1351=)
c.3573C>A (p.Val1191=)
12g.47974288A>CCA384533835COL2A1c.3911T>G (p.Val1304Gly)
c.4118T>G (p.Val1373Gly)
n.3204T>G
c.4262T>G (p.Val1421Gly)
c.4259T>G (p.Val1420Gly)
c.3206T>G (p.Val1069Gly)
c.4052T>G (p.Val1351Gly)
c.3572T>G (p.Val1191Gly)
12g.47974288A>GCA384533837COL2A1c.3911T>C (p.Val1304Ala)
c.4118T>C (p.Val1373Ala)
n.3204T>C
c.4262T>C (p.Val1421Ala)
c.4259T>C (p.Val1420Ala)
c.3206T>C (p.Val1069Ala)
c.4052T>C (p.Val1351Ala)
c.3572T>C (p.Val1191Ala)
12g.47974288A>TCA384533839COL2A1c.3911T>A (p.Val1304Asp)
c.4118T>A (p.Val1373Asp)
n.3204T>A
c.4262T>A (p.Val1421Asp)
c.4259T>A (p.Val1420Asp)
c.3206T>A (p.Val1069Asp)
c.4052T>A (p.Val1351Asp)
c.3572T>A (p.Val1191Asp)
12g.47974289C>ACA384533841COL2A1c.3910G>T (p.Val1304Phe)
c.4117G>T (p.Val1373Phe)
n.3203G>T
c.4261G>T (p.Val1421Phe)
c.4258G>T (p.Val1420Phe)
c.3205G>T (p.Val1069Phe)
c.4051G>T (p.Val1351Phe)
c.3571G>T (p.Val1191Phe)
12g.47974289C=CA2034471904COL2A1c.3910G= (p.Val1304=)
c.4117G= (p.Val1373=)
n.3203G=
c.4261G= (p.Val1421=)
c.4258G= (p.Val1420=)
c.3205G= (p.Val1069=)
c.4051G= (p.Val1351=)
c.3571G= (p.Val1191=)
12g.47974289C>GCA384533843COL2A1c.3910G>C (p.Val1304Leu)
c.4117G>C (p.Val1373Leu)
n.3203G>C
c.4261G>C (p.Val1421Leu)
c.4258G>C (p.Val1420Leu)
c.3205G>C (p.Val1069Leu)
c.4051G>C (p.Val1351Leu)
c.3571G>C (p.Val1191Leu)
12g.47974289C>TCA6534531COL2A1c.3910G>A (p.Val1304Ile)
c.4117G>A (p.Val1373Ile)
n.3203G>A
c.4261G>A (p.Val1421Ile)
c.4258G>A (p.Val1420Ile)
c.3205G>A (p.Val1069Ile)
c.4051G>A (p.Val1351Ile)
c.3571G>A (p.Val1191Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974290G>ACA6534532COL2A1c.3909C>T (p.Asn1303=)
c.4116C>T (p.Asn1372=)
n.3202C>T
c.4260C>T (p.Asn1420=)
c.4257C>T (p.Asn1419=)
c.3204C>T (p.Asn1068=)
c.4050C>T (p.Asn1350=)
c.3570C>T (p.Asn1190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974290G>CCA384533847COL2A1c.3909C>G (p.Asn1303Lys)
c.4116C>G (p.Asn1372Lys)
n.3202C>G
c.4260C>G (p.Asn1420Lys)
c.4257C>G (p.Asn1419Lys)
c.3204C>G (p.Asn1068Lys)
c.4050C>G (p.Asn1350Lys)
c.3570C>G (p.Asn1190Lys)
 gnomAD v4
12g.47974290G=CA2034471909COL2A1c.3909C= (p.Asn1303=)
c.4116C= (p.Asn1372=)
n.3202C=
c.4260C= (p.Asn1420=)
c.4257C= (p.Asn1419=)
c.3204C= (p.Asn1068=)
c.4050C= (p.Asn1350=)
c.3570C= (p.Asn1190=)
12g.47974290G>TCA384533849COL2A1c.3909C>A (p.Asn1303Lys)
c.4116C>A (p.Asn1372Lys)
n.3202C>A
c.4260C>A (p.Asn1420Lys)
c.4257C>A (p.Asn1419Lys)
c.3204C>A (p.Asn1068Lys)
c.4050C>A (p.Asn1350Lys)
c.3570C>A (p.Asn1190Lys)
12g.47974290_47974291insAAGCAGCA2726229229COL2A1c.3909_3910insTGCTTC (p.Asn1303_Val1304insCysPhe)
c.4116_4117insTGCTTC (p.Asn1372_Val1373insCysPhe)
n.3202_3203insTGCTTC
c.4260_4261insTGCTTC (p.Asn1420_Val1421insCysPhe)
c.4257_4258insTGCTTC (p.Asn1419_Val1420insCysPhe)
c.3204_3205insTGCTTC (p.Asn1068_Val1069insCysPhe)
c.4050_4051insTGCTTC (p.Asn1350_Val1351insCysPhe)
c.3570_3571insTGCTTC (p.Asn1190_Val1191insCysPhe)
 dbSNP
12g.47974290_47974291insAAGCAGCCA2726229242COL2A1c.3908_3909insGCTGCTT (p.Asn1303LysfsTer?)
c.4115_4116insGCTGCTT (p.Asn1372LysfsTer?)
n.3201_3202insGCTGCTT
c.4259_4260insGCTGCTT (p.Asn1420LysfsTer?)
c.4256_4257insGCTGCTT (p.Asn1419LysfsTer?)
c.3203_3204insGCTGCTT (p.Asn1068LysfsTer?)
c.4049_4050insGCTGCTT (p.Asn1350LysfsTer?)
c.3569_3570insGCTGCTT (p.Asn1190LysfsTer?)
 dbSNP
12g.47974291T>ACA384533851COL2A1c.3908A>T (p.Asn1303Ile)
c.4115A>T (p.Asn1372Ile)
n.3201A>T
c.4259A>T (p.Asn1420Ile)
c.4256A>T (p.Asn1419Ile)
c.3203A>T (p.Asn1068Ile)
c.4049A>T (p.Asn1350Ile)
c.3569A>T (p.Asn1190Ile)
12g.47974291T>CCA6534533COL2A1c.3908A>G (p.Asn1303Ser)
c.4115A>G (p.Asn1372Ser)
n.3201A>G
c.4259A>G (p.Asn1420Ser)
c.4256A>G (p.Asn1419Ser)
c.3203A>G (p.Asn1068Ser)
c.4049A>G (p.Asn1350Ser)
c.3569A>G (p.Asn1190Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974291T>GCA384533854COL2A1c.3908A>C (p.Asn1303Thr)
c.4115A>C (p.Asn1372Thr)
n.3201A>C
c.4259A>C (p.Asn1420Thr)
c.4256A>C (p.Asn1419Thr)
c.3203A>C (p.Asn1068Thr)
c.4049A>C (p.Asn1350Thr)
c.3569A>C (p.Asn1190Thr)
12g.47974291T=CA2034471914COL2A1c.3908A= (p.Asn1303=)
c.4115A= (p.Asn1372=)
n.3201A=
c.4259A= (p.Asn1420=)
c.4256A= (p.Asn1419=)
c.3203A= (p.Asn1068=)
c.4049A= (p.Asn1350=)
c.3569A= (p.Asn1190=)
12g.47974292T>ACA384533861COL2A1c.3907A>T (p.Asn1303Tyr)
c.4114A>T (p.Asn1372Tyr)
n.3200A>T
c.4258A>T (p.Asn1420Tyr)
c.4255A>T (p.Asn1419Tyr)
c.3202A>T (p.Asn1068Tyr)
c.4048A>T (p.Asn1350Tyr)
c.3568A>T (p.Asn1190Tyr)
12g.47974292T>CCA384533857COL2A1c.3907A>G (p.Asn1303Asp)
c.4114A>G (p.Asn1372Asp)
n.3200A>G
c.4258A>G (p.Asn1420Asp)
c.4255A>G (p.Asn1419Asp)
c.3202A>G (p.Asn1068Asp)
c.4048A>G (p.Asn1350Asp)
c.3568A>G (p.Asn1190Asp)
12g.47974292T>GCA384533859COL2A1c.3907A>C (p.Asn1303His)
c.4114A>C (p.Asn1372His)
n.3200A>C
c.4258A>C (p.Asn1420His)
c.4255A>C (p.Asn1419His)
c.3202A>C (p.Asn1068His)
c.4048A>C (p.Asn1350His)
c.3568A>C (p.Asn1190His)
12g.47974293G>ACA479450253COL2A1c.3906C>T (p.Ala1302=)
c.4113C>T (p.Ala1371=)
n.3199C>T
c.4257C>T (p.Ala1419=)
c.4254C>T (p.Ala1418=)
c.3201C>T (p.Ala1067=)
c.4047C>T (p.Ala1349=)
c.3567C>T (p.Ala1189=)
 gnomAD v4
12g.47974293G>CCA479450254COL2A1c.3906C>G (p.Ala1302=)
c.4113C>G (p.Ala1371=)
n.3199C>G
c.4257C>G (p.Ala1419=)
c.4254C>G (p.Ala1418=)
c.3201C>G (p.Ala1067=)
c.4047C>G (p.Ala1349=)
c.3567C>G (p.Ala1189=)
12g.47974293G>TCA479450255COL2A1c.3906C>A (p.Ala1302=)
c.4113C>A (p.Ala1371=)
n.3199C>A
c.4257C>A (p.Ala1419=)
c.4254C>A (p.Ala1418=)
c.3201C>A (p.Ala1067=)
c.4047C>A (p.Ala1349=)
c.3567C>A (p.Ala1189=)
12g.47974294delCA2521801334COL2A1c.3906del (p.Asn1303ThrfsTer4)
c.4113del (p.Asn1372ThrfsTer4)
n.3199del
c.4257del (p.Asn1420ThrfsTer4)
c.4254del (p.Asn1419ThrfsTer4)
c.3201del (p.Asn1068ThrfsTer4)
c.4047del (p.Asn1350ThrfsTer4)
c.3567del (p.Asn1190ThrfsTer4)
12g.47974293_47974294insAACA2726229457COL2A1c.3905_3906insTT (p.Asn1303SerfsTer5)
c.4112_4113insTT (p.Asn1372SerfsTer5)
n.3198_3199insTT
c.4256_4257insTT (p.Asn1420SerfsTer5)
c.4253_4254insTT (p.Asn1419SerfsTer5)
c.3200_3201insTT (p.Asn1068SerfsTer5)
c.4046_4047insTT (p.Asn1350SerfsTer5)
c.3566_3567insTT (p.Asn1190SerfsTer5)
 dbSNP
12g.47974293_47974294insCACA2726229249COL2A1c.3905_3906insTG (p.Asn1303AlafsTer5)
c.4112_4113insTG (p.Asn1372AlafsTer5)
n.3198_3199insTG
c.4256_4257insTG (p.Asn1420AlafsTer5)
c.4253_4254insTG (p.Asn1419AlafsTer5)
c.3200_3201insTG (p.Asn1068AlafsTer5)
c.4046_4047insTG (p.Asn1350AlafsTer5)
c.3566_3567insTG (p.Asn1190AlafsTer5)
 dbSNP
12g.47974294G>ACA384533863COL2A1c.3905C>T (p.Ala1302Val)
c.4112C>T (p.Ala1371Val)
n.3198C>T
c.4256C>T (p.Ala1419Val)
c.4253C>T (p.Ala1418Val)
c.3200C>T (p.Ala1067Val)
c.4046C>T (p.Ala1349Val)
c.3566C>T (p.Ala1189Val)
 dbSNP
12g.47974294G>CCA384533865COL2A1c.3905C>G (p.Ala1302Gly)
c.4112C>G (p.Ala1371Gly)
n.3198C>G
c.4256C>G (p.Ala1419Gly)
c.4253C>G (p.Ala1418Gly)
c.3200C>G (p.Ala1067Gly)
c.4046C>G (p.Ala1349Gly)
c.3566C>G (p.Ala1189Gly)
12g.47974294G>TCA384533867COL2A1c.3905C>A (p.Ala1302Asp)
c.4112C>A (p.Ala1371Asp)
n.3198C>A
c.4256C>A (p.Ala1419Asp)
c.4253C>A (p.Ala1418Asp)
c.3200C>A (p.Ala1067Asp)
c.4046C>A (p.Ala1349Asp)
c.3566C>A (p.Ala1189Asp)
 COSMIC COSMIC
12g.47974295C>ACA384533869COL2A1c.3904G>T (p.Ala1302Ser)
c.4111G>T (p.Ala1371Ser)
n.3197G>T
c.4255G>T (p.Ala1419Ser)
c.4252G>T (p.Ala1418Ser)
c.3199G>T (p.Ala1067Ser)
c.4045G>T (p.Ala1349Ser)
c.3565G>T (p.Ala1189Ser)
12g.47974295C=CA2034471917COL2A1c.3904G= (p.Ala1302=)
c.4111G= (p.Ala1371=)
n.3197G=
c.4255G= (p.Ala1419=)
c.4252G= (p.Ala1418=)
c.3199G= (p.Ala1067=)
c.4045G= (p.Ala1349=)
c.3565G= (p.Ala1189=)
12g.47974295C>GCA384533871COL2A1c.3904G>C (p.Ala1302Pro)
c.4111G>C (p.Ala1371Pro)
n.3197G>C
c.4255G>C (p.Ala1419Pro)
c.4252G>C (p.Ala1418Pro)
c.3199G>C (p.Ala1067Pro)
c.4045G>C (p.Ala1349Pro)
c.3565G>C (p.Ala1189Pro)
12g.47974295C>TCA384533873COL2A1c.3904G>A (p.Ala1302Thr)
c.4111G>A (p.Ala1371Thr)
n.3197G>A
c.4255G>A (p.Ala1419Thr)
c.4252G>A (p.Ala1418Thr)
c.3199G>A (p.Ala1067Thr)
c.4045G>A (p.Ala1349Thr)
c.3565G>A (p.Ala1189Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.47974296A>CCA479450256COL2A1c.3903T>G (p.Thr1301=)
c.4110T>G (p.Thr1370=)
n.3196T>G
c.4254T>G (p.Thr1418=)
c.4251T>G (p.Thr1417=)
c.3198T>G (p.Thr1066=)
c.4044T>G (p.Thr1348=)
c.3564T>G (p.Thr1188=)
12g.47974296A>GCA479450257COL2A1c.3903T>C (p.Thr1301=)
c.4110T>C (p.Thr1370=)
n.3196T>C
c.4254T>C (p.Thr1418=)
c.4251T>C (p.Thr1417=)
c.3198T>C (p.Thr1066=)
c.4044T>C (p.Thr1348=)
c.3564T>C (p.Thr1188=)
12g.47974296A>TCA479450258COL2A1c.3903T>A (p.Thr1301=)
c.4110T>A (p.Thr1370=)
n.3196T>A
c.4254T>A (p.Thr1418=)
c.4251T>A (p.Thr1417=)
c.3198T>A (p.Thr1066=)
c.4044T>A (p.Thr1348=)
c.3564T>A (p.Thr1188=)
12g.47974297G>ACA6534534COL2A1c.3902C>T (p.Thr1301Ile)
c.4109C>T (p.Thr1370Ile)
n.3195C>T
c.4253C>T (p.Thr1418Ile)
c.4250C>T (p.Thr1417Ile)
c.3197C>T (p.Thr1066Ile)
c.4043C>T (p.Thr1348Ile)
c.3563C>T (p.Thr1188Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974297G>CCA384533876COL2A1c.3902C>G (p.Thr1301Ser)
c.4109C>G (p.Thr1370Ser)
n.3195C>G
c.4253C>G (p.Thr1418Ser)
c.4250C>G (p.Thr1417Ser)
c.3197C>G (p.Thr1066Ser)
c.4043C>G (p.Thr1348Ser)
c.3563C>G (p.Thr1188Ser)
12g.47974297G=CA2034471922COL2A1c.3902C= (p.Thr1301=)
c.4109C= (p.Thr1370=)
n.3195C=
c.4253C= (p.Thr1418=)
c.4250C= (p.Thr1417=)
c.3197C= (p.Thr1066=)
c.4043C= (p.Thr1348=)
c.3563C= (p.Thr1188=)
12g.47974297G>TCA384533877COL2A1c.3902C>A (p.Thr1301Asn)
c.4109C>A (p.Thr1370Asn)
n.3195C>A
c.4253C>A (p.Thr1418Asn)
c.4250C>A (p.Thr1417Asn)
c.3197C>A (p.Thr1066Asn)
c.4043C>A (p.Thr1348Asn)
c.3563C>A (p.Thr1188Asn)
12g.47974298T>ACA384533879COL2A1c.3901A>T (p.Thr1301Ser)
c.4108A>T (p.Thr1370Ser)
n.3194A>T
c.4252A>T (p.Thr1418Ser)
c.4249A>T (p.Thr1417Ser)
c.3196A>T (p.Thr1066Ser)
c.4042A>T (p.Thr1348Ser)
c.3562A>T (p.Thr1188Ser)
12g.47974298T>CCA384533881COL2A1c.3901A>G (p.Thr1301Ala)
c.4108A>G (p.Thr1370Ala)
n.3194A>G
c.4252A>G (p.Thr1418Ala)
c.4249A>G (p.Thr1417Ala)
c.3196A>G (p.Thr1066Ala)
c.4042A>G (p.Thr1348Ala)
c.3562A>G (p.Thr1188Ala)
12g.47974298T>GCA384533882COL2A1c.3901A>C (p.Thr1301Pro)
c.4108A>C (p.Thr1370Pro)
n.3194A>C
c.4252A>C (p.Thr1418Pro)
c.4249A>C (p.Thr1417Pro)
c.3196A>C (p.Thr1066Pro)
c.4042A>C (p.Thr1348Pro)
c.3562A>C (p.Thr1188Pro)
12g.47974299G>ACA479450259COL2A1c.3900C>T (p.Asn1300=)
c.4107C>T (p.Asn1369=)
n.3193C>T
c.4251C>T (p.Asn1417=)
c.4248C>T (p.Asn1416=)
c.3195C>T (p.Asn1065=)
c.4041C>T (p.Asn1347=)
c.3561C>T (p.Asn1187=)
12g.47974299G>CCA384533885COL2A1c.3900C>G (p.Asn1300Lys)
c.4107C>G (p.Asn1369Lys)
n.3193C>G
c.4251C>G (p.Asn1417Lys)
c.4248C>G (p.Asn1416Lys)
c.3195C>G (p.Asn1065Lys)
c.4041C>G (p.Asn1347Lys)
c.3561C>G (p.Asn1187Lys)
12g.47974299G>TCA384533884COL2A1c.3900C>A (p.Asn1300Lys)
c.4107C>A (p.Asn1369Lys)
n.3193C>A
c.4251C>A (p.Asn1417Lys)
c.4248C>A (p.Asn1416Lys)
c.3195C>A (p.Asn1065Lys)
c.4041C>A (p.Asn1347Lys)
c.3561C>A (p.Asn1187Lys)
12g.47974300T>ACA384533888COL2A1c.3899A>T (p.Asn1300Ile)
c.4106A>T (p.Asn1369Ile)
n.3192A>T
c.4250A>T (p.Asn1417Ile)
c.4247A>T (p.Asn1416Ile)
c.3194A>T (p.Asn1065Ile)
c.4040A>T (p.Asn1347Ile)
c.3560A>T (p.Asn1187Ile)
12g.47974300T>CCA384533891COL2A1c.3899A>G (p.Asn1300Ser)
c.4106A>G (p.Asn1369Ser)
n.3192A>G
c.4250A>G (p.Asn1417Ser)
c.4247A>G (p.Asn1416Ser)
c.3194A>G (p.Asn1065Ser)
c.4040A>G (p.Asn1347Ser)
c.3560A>G (p.Asn1187Ser)
12g.47974300T>GCA384533890COL2A1c.3899A>C (p.Asn1300Thr)
c.4106A>C (p.Asn1369Thr)
n.3192A>C
c.4250A>C (p.Asn1417Thr)
c.4247A>C (p.Asn1416Thr)
c.3194A>C (p.Asn1065Thr)
c.4040A>C (p.Asn1347Thr)
c.3560A>C (p.Asn1187Thr)
12g.47974301T>ACA384533892COL2A1c.3898A>T (p.Asn1300Tyr)
c.4105A>T (p.Asn1369Tyr)
n.3191A>T
c.4249A>T (p.Asn1417Tyr)
c.4246A>T (p.Asn1416Tyr)
c.3193A>T (p.Asn1065Tyr)
c.4039A>T (p.Asn1347Tyr)
c.3559A>T (p.Asn1187Tyr)
12g.47974301T>CCA384533894COL2A1c.3898A>G (p.Asn1300Asp)
c.4105A>G (p.Asn1369Asp)
n.3191A>G
c.4249A>G (p.Asn1417Asp)
c.4246A>G (p.Asn1416Asp)
c.3193A>G (p.Asn1065Asp)
c.4039A>G (p.Asn1347Asp)
c.3559A>G (p.Asn1187Asp)
 gnomAD v4
12g.47974301T>GCA384533896COL2A1c.3898A>C (p.Asn1300His)
c.4105A>C (p.Asn1369His)
n.3191A>C
c.4249A>C (p.Asn1417His)
c.4246A>C (p.Asn1416His)
c.3193A>C (p.Asn1065His)
c.4039A>C (p.Asn1347His)
c.3559A>C (p.Asn1187His)
12g.47974302G>ACA203163COL2A1c.3897C>T (p.Pro1299=)
c.4104C>T (p.Pro1368=)
n.3190C>T
c.4248C>T (p.Pro1416=)
c.4245C>T (p.Pro1415=)
c.3192C>T (p.Pro1064=)
c.4038C>T (p.Pro1346=)
c.3558C>T (p.Pro1186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974302G>CCA479450261COL2A1c.3897C>G (p.Pro1299=)
c.4104C>G (p.Pro1368=)
n.3190C>G
c.4248C>G (p.Pro1416=)
c.4245C>G (p.Pro1415=)
c.3192C>G (p.Pro1064=)
c.4038C>G (p.Pro1346=)
c.3558C>G (p.Pro1186=)
12g.47974302G=CA2034471926COL2A1c.3897C= (p.Pro1299=)
c.4104C= (p.Pro1368=)
n.3190C=
c.4248C= (p.Pro1416=)
c.4245C= (p.Pro1415=)
c.3192C= (p.Pro1064=)
c.4038C= (p.Pro1346=)
c.3558C= (p.Pro1186=)
12g.47974302G>TCA479450260COL2A1c.3897C>A (p.Pro1299=)
c.4104C>A (p.Pro1368=)
n.3190C>A
c.4248C>A (p.Pro1416=)
c.4245C>A (p.Pro1415=)
c.3192C>A (p.Pro1064=)
c.4038C>A (p.Pro1346=)
c.3558C>A (p.Pro1186=)
12g.47974303G>ACA6534535COL2A1c.3896C>T (p.Pro1299Leu)
c.4103C>T (p.Pro1368Leu)
n.3189C>T
c.4247C>T (p.Pro1416Leu)
c.4244C>T (p.Pro1415Leu)
c.3191C>T (p.Pro1064Leu)
c.4037C>T (p.Pro1346Leu)
c.3557C>T (p.Pro1186Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974303G>CCA384533899COL2A1c.3896C>G (p.Pro1299Arg)
c.4103C>G (p.Pro1368Arg)
n.3189C>G
c.4247C>G (p.Pro1416Arg)
c.4244C>G (p.Pro1415Arg)
c.3191C>G (p.Pro1064Arg)
c.4037C>G (p.Pro1346Arg)
c.3557C>G (p.Pro1186Arg)
12g.47974303G=CA2034471930COL2A1c.3896C= (p.Pro1299=)
c.4103C= (p.Pro1368=)
n.3189C=
c.4247C= (p.Pro1416=)
c.4244C= (p.Pro1415=)
c.3191C= (p.Pro1064=)
c.4037C= (p.Pro1346=)
c.3557C= (p.Pro1186=)
12g.47974303G>TCA384533901COL2A1c.3896C>A (p.Pro1299His)
c.4103C>A (p.Pro1368His)
n.3189C>A
c.4247C>A (p.Pro1416His)
c.4244C>A (p.Pro1415His)
c.3191C>A (p.Pro1064His)
c.4037C>A (p.Pro1346His)
c.3557C>A (p.Pro1186His)
12g.47974304G>ACA6534536COL2A1c.3895C>T (p.Pro1299Ser)
c.4102C>T (p.Pro1368Ser)
n.3188C>T
c.4246C>T (p.Pro1416Ser)
c.4243C>T (p.Pro1415Ser)
c.3190C>T (p.Pro1064Ser)
c.4036C>T (p.Pro1346Ser)
c.3556C>T (p.Pro1186Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974304G>CCA384533905COL2A1c.3895C>G (p.Pro1299Ala)
c.4102C>G (p.Pro1368Ala)
n.3188C>G
c.4246C>G (p.Pro1416Ala)
c.4243C>G (p.Pro1415Ala)
c.3190C>G (p.Pro1064Ala)
c.4036C>G (p.Pro1346Ala)
c.3556C>G (p.Pro1186Ala)
 COSMIC COSMIC
12g.47974304G=CA2034471935COL2A1c.3895C= (p.Pro1299=)
c.4102C= (p.Pro1368=)
n.3188C=
c.4246C= (p.Pro1416=)
c.4243C= (p.Pro1415=)
c.3190C= (p.Pro1064=)
c.4036C= (p.Pro1346=)
c.3556C= (p.Pro1186=)
12g.47974304G>TCA384533906COL2A1c.3895C>A (p.Pro1299Thr)
c.4102C>A (p.Pro1368Thr)
n.3188C>A
c.4246C>A (p.Pro1416Thr)
c.4243C>A (p.Pro1415Thr)
c.3190C>A (p.Pro1064Thr)
c.4036C>A (p.Pro1346Thr)
c.3556C>A (p.Pro1186Thr)
12g.47974305A>CCA479450264COL2A1c.3894T>G (p.Ala1298=)
c.4101T>G (p.Ala1367=)
n.3187T>G
c.4245T>G (p.Ala1415=)
c.4242T>G (p.Ala1414=)
c.3189T>G (p.Ala1063=)
c.4035T>G (p.Ala1345=)
c.3555T>G (p.Ala1185=)
12g.47974305A>GCA479450263COL2A1c.3894T>C (p.Ala1298=)
c.4101T>C (p.Ala1367=)
n.3187T>C
c.4245T>C (p.Ala1415=)
c.4242T>C (p.Ala1414=)
c.3189T>C (p.Ala1063=)
c.4035T>C (p.Ala1345=)
c.3555T>C (p.Ala1185=)
12g.47974305A>TCA479450262COL2A1c.3894T>A (p.Ala1298=)
c.4101T>A (p.Ala1367=)
n.3187T>A
c.4245T>A (p.Ala1415=)
c.4242T>A (p.Ala1414=)
c.3189T>A (p.Ala1063=)
c.4035T>A (p.Ala1345=)
c.3555T>A (p.Ala1185=)
12g.47974306G>ACA384533909COL2A1c.3893C>T (p.Ala1298Val)
c.4100C>T (p.Ala1367Val)
n.3186C>T
c.4244C>T (p.Ala1415Val)
c.4241C>T (p.Ala1414Val)
c.3188C>T (p.Ala1063Val)
c.4034C>T (p.Ala1345Val)
c.3554C>T (p.Ala1185Val)
12g.47974306G>CCA384533911COL2A1c.3893C>G (p.Ala1298Gly)
c.4100C>G (p.Ala1367Gly)
n.3186C>G
c.4244C>G (p.Ala1415Gly)
c.4241C>G (p.Ala1414Gly)
c.3188C>G (p.Ala1063Gly)
c.4034C>G (p.Ala1345Gly)
c.3554C>G (p.Ala1185Gly)
12g.47974306G>TCA384533913COL2A1c.3893C>A (p.Ala1298Asp)
c.4100C>A (p.Ala1367Asp)
n.3186C>A
c.4244C>A (p.Ala1415Asp)
c.4241C>A (p.Ala1414Asp)
c.3188C>A (p.Ala1063Asp)
c.4034C>A (p.Ala1345Asp)
c.3554C>A (p.Ala1185Asp)
12g.47974307C>ACA384533918COL2A1c.3892G>T (p.Ala1298Ser)
c.4099G>T (p.Ala1367Ser)
n.3185G>T
c.4243G>T (p.Ala1415Ser)
c.4240G>T (p.Ala1414Ser)
c.3187G>T (p.Ala1063Ser)
c.4033G>T (p.Ala1345Ser)
c.3553G>T (p.Ala1185Ser)
 ClinVar gnomAD v4
12g.47974307C=CA2034471939COL2A1c.3892G= (p.Ala1298=)
c.4099G= (p.Ala1367=)
n.3185G=
c.4243G= (p.Ala1415=)
c.4240G= (p.Ala1414=)
c.3187G= (p.Ala1063=)
c.4033G= (p.Ala1345=)
c.3553G= (p.Ala1185=)
12g.47974307C>GCA6534537COL2A1c.3892G>C (p.Ala1298Pro)
c.4099G>C (p.Ala1367Pro)
n.3185G>C
c.4243G>C (p.Ala1415Pro)
c.4240G>C (p.Ala1414Pro)
c.3187G>C (p.Ala1063Pro)
c.4033G>C (p.Ala1345Pro)
c.3553G>C (p.Ala1185Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974307C>TCA384533916COL2A1c.3892G>A (p.Ala1298Thr)
c.4099G>A (p.Ala1367Thr)
n.3185G>A
c.4243G>A (p.Ala1415Thr)
c.4240G>A (p.Ala1414Thr)
c.3187G>A (p.Ala1063Thr)
c.4033G>A (p.Ala1345Thr)
c.3553G>A (p.Ala1185Thr)
12g.47974308C>ACA479450267COL2A1c.3891G>T (p.Leu1297=)
c.4098G>T (p.Leu1366=)
n.3184G>T
c.4242G>T (p.Leu1414=)
c.4239G>T (p.Leu1413=)
c.3186G>T (p.Leu1062=)
c.4032G>T (p.Leu1344=)
c.3552G>T (p.Leu1184=)
12g.47974308C=CA2034471944COL2A1c.3891G= (p.Leu1297=)
c.4098G= (p.Leu1366=)
n.3184G=
c.4242G= (p.Leu1414=)
c.4239G= (p.Leu1413=)
c.3186G= (p.Leu1062=)
c.4032G= (p.Leu1344=)
c.3552G= (p.Leu1184=)
12g.47974308C>GCA479450265COL2A1c.3891G>C (p.Leu1297=)
c.4098G>C (p.Leu1366=)
n.3184G>C
c.4242G>C (p.Leu1414=)
c.4239G>C (p.Leu1413=)
c.3186G>C (p.Leu1062=)
c.4032G>C (p.Leu1344=)
c.3552G>C (p.Leu1184=)
 ClinVar dbSNP
12g.47974308C>TCA479450266COL2A1c.3891G>A (p.Leu1297=)
c.4098G>A (p.Leu1366=)
n.3184G>A
c.4242G>A (p.Leu1414=)
c.4239G>A (p.Leu1413=)
c.3186G>A (p.Leu1062=)
c.4032G>A (p.Leu1344=)
c.3552G>A (p.Leu1184=)
12g.47974309A=CA2034471948COL2A1c.3890T= (p.Leu1297=)
c.4097T= (p.Leu1366=)
n.3183T=
c.4241T= (p.Leu1414=)
c.4238T= (p.Leu1413=)
c.3185T= (p.Leu1062=)
c.4031T= (p.Leu1344=)
c.3551T= (p.Leu1184=)
12g.47974309A>CCA384533919COL2A1c.3890T>G (p.Leu1297Arg)
c.4097T>G (p.Leu1366Arg)
n.3183T>G
c.4241T>G (p.Leu1414Arg)
c.4238T>G (p.Leu1413Arg)
c.3185T>G (p.Leu1062Arg)
c.4031T>G (p.Leu1344Arg)
c.3551T>G (p.Leu1184Arg)
12g.47974309A>GCA384533921COL2A1c.3890T>C (p.Leu1297Pro)
c.4097T>C (p.Leu1366Pro)
n.3183T>C
c.4241T>C (p.Leu1414Pro)
c.4238T>C (p.Leu1413Pro)
c.3185T>C (p.Leu1062Pro)
c.4031T>C (p.Leu1344Pro)
c.3551T>C (p.Leu1184Pro)
 dbSNP
12g.47974309A>TCA384533922COL2A1c.3890T>A (p.Leu1297Gln)
c.4097T>A (p.Leu1366Gln)
n.3183T>A
c.4241T>A (p.Leu1414Gln)
c.4238T>A (p.Leu1413Gln)
c.3185T>A (p.Leu1062Gln)
c.4031T>A (p.Leu1344Gln)
c.3551T>A (p.Leu1184Gln)
12g.47974310G>ACA479450268COL2A1c.3889C>T (p.Leu1297=)
c.4096C>T (p.Leu1366=)
n.3182C>T
c.4240C>T (p.Leu1414=)
c.4237C>T (p.Leu1413=)
c.3184C>T (p.Leu1062=)
c.4030C>T (p.Leu1344=)
c.3550C>T (p.Leu1184=)
12g.47974310G>CCA384533923COL2A1c.3889C>G (p.Leu1297Val)
c.4096C>G (p.Leu1366Val)
n.3182C>G
c.4240C>G (p.Leu1414Val)
c.4237C>G (p.Leu1413Val)
c.3184C>G (p.Leu1062Val)
c.4030C>G (p.Leu1344Val)
c.3550C>G (p.Leu1184Val)
12g.47974310G>TCA384533924COL2A1c.3889C>A (p.Leu1297Met)
c.4096C>A (p.Leu1366Met)
n.3182C>A
c.4240C>A (p.Leu1414Met)
c.4237C>A (p.Leu1413Met)
c.3184C>A (p.Leu1062Met)
c.4030C>A (p.Leu1344Met)
c.3550C>A (p.Leu1184Met)
12g.47974311A=CA2034471954COL2A1c.3888T= (p.Asn1296=)
c.4095T= (p.Asn1365=)
n.3181T=
c.4239T= (p.Asn1413=)
c.4236T= (p.Asn1412=)
c.3183T= (p.Asn1061=)
c.4029T= (p.Asn1343=)
c.3549T= (p.Asn1183=)
12g.47974311A>CCA384533926COL2A1c.3888T>G (p.Asn1296Lys)
c.4095T>G (p.Asn1365Lys)
n.3181T>G
c.4239T>G (p.Asn1413Lys)
c.4236T>G (p.Asn1412Lys)
c.3183T>G (p.Asn1061Lys)
c.4029T>G (p.Asn1343Lys)
c.3549T>G (p.Asn1183Lys)
12g.47974311A>GCA6534538COL2A1c.3888T>C (p.Asn1296=)
c.4095T>C (p.Asn1365=)
n.3181T>C
c.4239T>C (p.Asn1413=)
c.4236T>C (p.Asn1412=)
c.3183T>C (p.Asn1061=)
c.4029T>C (p.Asn1343=)
c.3549T>C (p.Asn1183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974311A>TCA384533929COL2A1c.3888T>A (p.Asn1296Lys)
c.4095T>A (p.Asn1365Lys)
n.3181T>A
c.4239T>A (p.Asn1413Lys)
c.4236T>A (p.Asn1412Lys)
c.3183T>A (p.Asn1061Lys)
c.4029T>A (p.Asn1343Lys)
c.3549T>A (p.Asn1183Lys)
12g.47974312T>ACA6534539COL2A1c.3887A>T (p.Asn1296Ile)
c.4094A>T (p.Asn1365Ile)
n.3180A>T
c.4238A>T (p.Asn1413Ile)
c.4235A>T (p.Asn1412Ile)
c.3182A>T (p.Asn1061Ile)
c.4028A>T (p.Asn1343Ile)
c.3548A>T (p.Asn1183Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974312T>CCA384533931COL2A1c.3887A>G (p.Asn1296Ser)
c.4094A>G (p.Asn1365Ser)
n.3180A>G
c.4238A>G (p.Asn1413Ser)
c.4235A>G (p.Asn1412Ser)
c.3182A>G (p.Asn1061Ser)
c.4028A>G (p.Asn1343Ser)
c.3548A>G (p.Asn1183Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.47974312T>GCA384533933COL2A1c.3887A>C (p.Asn1296Thr)
c.4094A>C (p.Asn1365Thr)
n.3180A>C
c.4238A>C (p.Asn1413Thr)
c.4235A>C (p.Asn1412Thr)
c.3182A>C (p.Asn1061Thr)
c.4028A>C (p.Asn1343Thr)
c.3548A>C (p.Asn1183Thr)
12g.47974312T=CA2034471961COL2A1c.3887A= (p.Asn1296=)
c.4094A= (p.Asn1365=)
n.3180A=
c.4238A= (p.Asn1413=)
c.4235A= (p.Asn1412=)
c.3182A= (p.Asn1061=)
c.4028A= (p.Asn1343=)
c.3548A= (p.Asn1183=)
12g.47974313T>ACA6534540COL2A1c.3886A>T (p.Asn1296Tyr)
c.4093A>T (p.Asn1365Tyr)
n.3179A>T
c.4237A>T (p.Asn1413Tyr)
c.4234A>T (p.Asn1412Tyr)
c.3181A>T (p.Asn1061Tyr)
c.4027A>T (p.Asn1343Tyr)
c.3547A>T (p.Asn1183Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974313T>CCA384533937COL2A1c.3886A>G (p.Asn1296Asp)
c.4093A>G (p.Asn1365Asp)
n.3179A>G
c.4237A>G (p.Asn1413Asp)
c.4234A>G (p.Asn1412Asp)
c.3181A>G (p.Asn1061Asp)
c.4027A>G (p.Asn1343Asp)
c.3547A>G (p.Asn1183Asp)
 gnomAD v4
12g.47974313T>GCA384533934COL2A1c.3886A>C (p.Asn1296His)
c.4093A>C (p.Asn1365His)
n.3179A>C
c.4237A>C (p.Asn1413His)
c.4234A>C (p.Asn1412His)
c.3181A>C (p.Asn1061His)
c.4027A>C (p.Asn1343His)
c.3547A>C (p.Asn1183His)
12g.47974313T=CA2034471965COL2A1c.3886A= (p.Asn1296=)
c.4093A= (p.Asn1365=)
n.3179A=
c.4237A= (p.Asn1413=)
c.4234A= (p.Asn1412=)
c.3181A= (p.Asn1061=)
c.4027A= (p.Asn1343=)
c.3547A= (p.Asn1183=)
12g.47974314G>ACA479450269COL2A1c.3885C>T (p.Asp1295=)
c.4092C>T (p.Asp1364=)
n.3178C>T
c.4236C>T (p.Asp1412=)
c.4233C>T (p.Asp1411=)
c.3180C>T (p.Asp1060=)
c.4026C>T (p.Asp1342=)
c.3546C>T (p.Asp1182=)
 ClinVar dbSNP gnomAD v4
12g.47974314G>CCA384533939COL2A1c.3885C>G (p.Asp1295Glu)
c.4092C>G (p.Asp1364Glu)
n.3178C>G
c.4236C>G (p.Asp1412Glu)
c.4233C>G (p.Asp1411Glu)
c.3180C>G (p.Asp1060Glu)
c.4026C>G (p.Asp1342Glu)
c.3546C>G (p.Asp1182Glu)
12g.47974314G=CA2034471971COL2A1c.3885C= (p.Asp1295=)
c.4092C= (p.Asp1364=)
n.3178C=
c.4236C= (p.Asp1412=)
c.4233C= (p.Asp1411=)
c.3180C= (p.Asp1060=)
c.4026C= (p.Asp1342=)
c.3546C= (p.Asp1182=)
12g.47974314G>TCA6534541COL2A1c.3885C>A (p.Asp1295Glu)
c.4092C>A (p.Asp1364Glu)
n.3178C>A
c.4236C>A (p.Asp1412Glu)
c.4233C>A (p.Asp1411Glu)
c.3180C>A (p.Asp1060Glu)
c.4026C>A (p.Asp1342Glu)
c.3546C>A (p.Asp1182Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974315T>ACA384533942COL2A1c.3884A>T (p.Asp1295Val)
c.4091A>T (p.Asp1364Val)
n.3177A>T
c.4235A>T (p.Asp1412Val)
c.4232A>T (p.Asp1411Val)
c.3179A>T (p.Asp1060Val)
c.4025A>T (p.Asp1342Val)
c.3545A>T (p.Asp1182Val)
12g.47974315T>CCA384533944COL2A1c.3884A>G (p.Asp1295Gly)
c.4091A>G (p.Asp1364Gly)
n.3177A>G
c.4235A>G (p.Asp1412Gly)
c.4232A>G (p.Asp1411Gly)
c.3179A>G (p.Asp1060Gly)
c.4025A>G (p.Asp1342Gly)
c.3545A>G (p.Asp1182Gly)
 COSMIC COSMIC
12g.47974315T>GCA384533946COL2A1c.3884A>C (p.Asp1295Ala)
c.4091A>C (p.Asp1364Ala)
n.3177A>C
c.4235A>C (p.Asp1412Ala)
c.4232A>C (p.Asp1411Ala)
c.3179A>C (p.Asp1060Ala)
c.4025A>C (p.Asp1342Ala)
c.3545A>C (p.Asp1182Ala)
 ClinVar dbSNP
12g.47974316C>ACA384533951COL2A1c.3883G>T (p.Asp1295Tyr)
c.4090G>T (p.Asp1364Tyr)
n.3176G>T
c.4234G>T (p.Asp1412Tyr)
c.4231G>T (p.Asp1411Tyr)
c.3178G>T (p.Asp1060Tyr)
c.4024G>T (p.Asp1342Tyr)
c.3544G>T (p.Asp1182Tyr)
12g.47974316C=CA2034472335COL2A1c.3883G= (p.Asp1295=)
c.4090G= (p.Asp1364=)
n.3176G=
c.4234G= (p.Asp1412=)
c.4231G= (p.Asp1411=)
c.3178G= (p.Asp1060=)
c.4024G= (p.Asp1342=)
c.3544G= (p.Asp1182=)
12g.47974316C>GCA384533949COL2A1c.3883G>C (p.Asp1295His)
c.4090G>C (p.Asp1364His)
n.3176G>C
c.4234G>C (p.Asp1412His)
c.4231G>C (p.Asp1411His)
c.3178G>C (p.Asp1060His)
c.4024G>C (p.Asp1342His)
c.3544G>C (p.Asp1182His)
12g.47974316C>TCA6534542COL2A1c.3883G>A (p.Asp1295Asn)
c.4090G>A (p.Asp1364Asn)
n.3176G>A
c.4234G>A (p.Asp1412Asn)
c.4231G>A (p.Asp1411Asn)
c.3178G>A (p.Asp1060Asn)
c.4024G>A (p.Asp1342Asn)
c.3544G>A (p.Asp1182Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974317A=CA2034472338COL2A1c.3882T= (p.Asp1294=)
c.4089T= (p.Asp1363=)
n.3175T=
c.4233T= (p.Asp1411=)
c.4230T= (p.Asp1410=)
c.3177T= (p.Asp1059=)
c.4023T= (p.Asp1341=)
c.3543T= (p.Asp1181=)
12g.47974317A>CCA384533953COL2A1c.3882T>G (p.Asp1294Glu)
c.4089T>G (p.Asp1363Glu)
n.3175T>G
c.4233T>G (p.Asp1411Glu)
c.4230T>G (p.Asp1410Glu)
c.3177T>G (p.Asp1059Glu)
c.4023T>G (p.Asp1341Glu)
c.3543T>G (p.Asp1181Glu)
12g.47974317A>GCA6534543COL2A1c.3882T>C (p.Asp1294=)
c.4089T>C (p.Asp1363=)
n.3175T>C
c.4233T>C (p.Asp1411=)
c.4230T>C (p.Asp1410=)
c.3177T>C (p.Asp1059=)
c.4023T>C (p.Asp1341=)
c.3543T>C (p.Asp1181=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974317A>TCA384533956COL2A1c.3882T>A (p.Asp1294Glu)
c.4089T>A (p.Asp1363Glu)
n.3175T>A
c.4233T>A (p.Asp1411Glu)
c.4230T>A (p.Asp1410Glu)
c.3177T>A (p.Asp1059Glu)
c.4023T>A (p.Asp1341Glu)
c.3543T>A (p.Asp1181Glu)
12g.47974318delCA2695216616COL2A1c.3881del (p.Asp1294ValfsTer13)
c.4088del (p.Asp1363ValfsTer13)
n.3174del
c.4232del (p.Asp1411ValfsTer13)
c.4229del (p.Asp1410ValfsTer13)
c.3176del (p.Asp1059ValfsTer13)
c.4022del (p.Asp1341ValfsTer13)
c.3542del (p.Asp1181ValfsTer13)
12g.47974318T>ACA384533958COL2A1c.3881A>T (p.Asp1294Val)
c.4088A>T (p.Asp1363Val)
n.3174A>T
c.4232A>T (p.Asp1411Val)
c.4229A>T (p.Asp1410Val)
c.3176A>T (p.Asp1059Val)
c.4022A>T (p.Asp1341Val)
c.3542A>T (p.Asp1181Val)
12g.47974318T>CCA6534544COL2A1c.3881A>G (p.Asp1294Gly)
c.4088A>G (p.Asp1363Gly)
n.3174A>G
c.4232A>G (p.Asp1411Gly)
c.4229A>G (p.Asp1410Gly)
c.3176A>G (p.Asp1059Gly)
c.4022A>G (p.Asp1341Gly)
c.3542A>G (p.Asp1181Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974318T>GCA384533961COL2A1c.3881A>C (p.Asp1294Ala)
c.4088A>C (p.Asp1363Ala)
n.3174A>C
c.4232A>C (p.Asp1411Ala)
c.4229A>C (p.Asp1410Ala)
c.3176A>C (p.Asp1059Ala)
c.4022A>C (p.Asp1341Ala)
c.3542A>C (p.Asp1181Ala)
12g.47974318T=CA2034472343COL2A1c.3881A= (p.Asp1294=)
c.4088A= (p.Asp1363=)
n.3174A=
c.4232A= (p.Asp1411=)
c.4229A= (p.Asp1410=)
c.3176A= (p.Asp1059=)
c.4022A= (p.Asp1341=)
c.3542A= (p.Asp1181=)
12g.47974319C>ACA384533963COL2A1c.3880G>T (p.Asp1294Tyr)
c.4087G>T (p.Asp1363Tyr)
n.3173G>T
c.4231G>T (p.Asp1411Tyr)
c.4228G>T (p.Asp1410Tyr)
c.3175G>T (p.Asp1059Tyr)
c.4021G>T (p.Asp1341Tyr)
c.3541G>T (p.Asp1181Tyr)
12g.47974319C>GCA384533967COL2A1c.3880G>C (p.Asp1294His)
c.4087G>C (p.Asp1363His)
n.3173G>C
c.4231G>C (p.Asp1411His)
c.4228G>C (p.Asp1410His)
c.3175G>C (p.Asp1059His)
c.4021G>C (p.Asp1341His)
c.3541G>C (p.Asp1181His)
12g.47974319C>TCA384533965COL2A1c.3880G>A (p.Asp1294Asn)
c.4087G>A (p.Asp1363Asn)
n.3173G>A
c.4231G>A (p.Asp1411Asn)
c.4228G>A (p.Asp1410Asn)
c.3175G>A (p.Asp1059Asn)
c.4021G>A (p.Asp1341Asn)
c.3541G>A (p.Asp1181Asn)
12g.47974320T>ACA479450270COL2A1c.3879A>T (p.Gly1293=)
c.4086A>T (p.Gly1362=)
n.3172A>T
c.4230A>T (p.Gly1410=)
c.4227A>T (p.Gly1409=)
c.3174A>T (p.Gly1058=)
c.4020A>T (p.Gly1340=)
c.3540A>T (p.Gly1180=)
12g.47974320T>CCA479450271COL2A1c.3879A>G (p.Gly1293=)
c.4086A>G (p.Gly1362=)
n.3172A>G
c.4230A>G (p.Gly1410=)
c.4227A>G (p.Gly1409=)
c.3174A>G (p.Gly1058=)
c.4020A>G (p.Gly1340=)
c.3540A>G (p.Gly1180=)
12g.47974320T>GCA6534545COL2A1c.3879A>C (p.Gly1293=)
c.4086A>C (p.Gly1362=)
n.3172A>C
c.4230A>C (p.Gly1410=)
c.4227A>C (p.Gly1409=)
c.3174A>C (p.Gly1058=)
c.4020A>C (p.Gly1340=)
c.3540A>C (p.Gly1180=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974320T=CA2034472346COL2A1c.3879A= (p.Gly1293=)
c.4086A= (p.Gly1362=)
n.3172A=
c.4230A= (p.Gly1410=)
c.4227A= (p.Gly1409=)
c.3174A= (p.Gly1058=)
c.4020A= (p.Gly1340=)
c.3540A= (p.Gly1180=)
12g.47974321C>ACA384533971COL2A1c.3878G>T (p.Gly1293Val)
c.4085G>T (p.Gly1362Val)
n.3171G>T
c.4229G>T (p.Gly1410Val)
c.4226G>T (p.Gly1409Val)
c.3173G>T (p.Gly1058Val)
c.4019G>T (p.Gly1340Val)
c.3539G>T (p.Gly1180Val)
12g.47974321C>GCA384533972COL2A1c.3878G>C (p.Gly1293Ala)
c.4085G>C (p.Gly1362Ala)
n.3171G>C
c.4229G>C (p.Gly1410Ala)
c.4226G>C (p.Gly1409Ala)
c.3173G>C (p.Gly1058Ala)
c.4019G>C (p.Gly1340Ala)
c.3539G>C (p.Gly1180Ala)
 COSMIC COSMIC
12g.47974321C>TCA384533974COL2A1c.3878G>A (p.Gly1293Glu)
c.4085G>A (p.Gly1362Glu)
n.3171G>A
c.4229G>A (p.Gly1410Glu)
c.4226G>A (p.Gly1409Glu)
c.3173G>A (p.Gly1058Glu)
c.4019G>A (p.Gly1340Glu)
c.3539G>A (p.Gly1180Glu)
 gnomAD v4 COSMIC COSMIC
12g.47974322delCA2580085614COL2A1c.3878del (p.Gly1293GlufsTer14)
c.4085del (p.Gly1362GlufsTer14)
n.3171del
c.4229del (p.Gly1410GlufsTer14)
c.4226del (p.Gly1409GlufsTer14)
c.3173del (p.Gly1058GlufsTer14)
c.4019del (p.Gly1340GlufsTer14)
c.3539del (p.Gly1180GlufsTer14)
 ClinVar
12g.47974322C>ACA384533977COL2A1c.3877G>T (p.Gly1293Ter)
c.4084G>T (p.Gly1362Ter)
n.3170G>T
c.4228G>T (p.Gly1410Ter)
c.4225G>T (p.Gly1409Ter)
c.3172G>T (p.Gly1058Ter)
c.4018G>T (p.Gly1340Ter)
c.3538G>T (p.Gly1180Ter)
12g.47974322C>GCA384533978COL2A1c.3877G>C (p.Gly1293Arg)
c.4084G>C (p.Gly1362Arg)
n.3170G>C
c.4228G>C (p.Gly1410Arg)
c.4225G>C (p.Gly1409Arg)
c.3172G>C (p.Gly1058Arg)
c.4018G>C (p.Gly1340Arg)
c.3538G>C (p.Gly1180Arg)
12g.47974322C>TCA384533979COL2A1c.3877G>A (p.Gly1293Arg)
c.4084G>A (p.Gly1362Arg)
n.3170G>A
c.4228G>A (p.Gly1410Arg)
c.4225G>A (p.Gly1409Arg)
c.3172G>A (p.Gly1058Arg)
c.4018G>A (p.Gly1340Arg)
c.3538G>A (p.Gly1180Arg)
12g.47974323A=CA2034472350COL2A1c.3876T= (p.Tyr1292=)
c.4083T= (p.Tyr1361=)
n.3169T=
c.4227T= (p.Tyr1409=)
c.4224T= (p.Tyr1408=)
c.3171T= (p.Tyr1057=)
c.4017T= (p.Tyr1339=)
c.3537T= (p.Tyr1179=)
12g.47974323A>CCA384533981COL2A1c.3876T>G (p.Tyr1292Ter)
c.4083T>G (p.Tyr1361Ter)
n.3169T>G
c.4227T>G (p.Tyr1409Ter)
c.4224T>G (p.Tyr1408Ter)
c.3171T>G (p.Tyr1057Ter)
c.4017T>G (p.Tyr1339Ter)
c.3537T>G (p.Tyr1179Ter)
12g.47974323A>GCA479450272COL2A1c.3876T>C (p.Tyr1292=)
c.4083T>C (p.Tyr1361=)
n.3169T>C
c.4227T>C (p.Tyr1409=)
c.4224T>C (p.Tyr1408=)
c.3171T>C (p.Tyr1057=)
c.4017T>C (p.Tyr1339=)
c.3537T>C (p.Tyr1179=)
 dbSNP
12g.47974323A>TCA384533983COL2A1c.3876T>A (p.Tyr1292Ter)
c.4083T>A (p.Tyr1361Ter)
n.3169T>A
c.4227T>A (p.Tyr1409Ter)
c.4224T>A (p.Tyr1408Ter)
c.3171T>A (p.Tyr1057Ter)
c.4017T>A (p.Tyr1339Ter)
c.3537T>A (p.Tyr1179Ter)
12g.47974324T>ACA384533985COL2A1c.3875A>T (p.Tyr1292Phe)
c.4082A>T (p.Tyr1361Phe)
n.3168A>T
c.4226A>T (p.Tyr1409Phe)
c.4223A>T (p.Tyr1408Phe)
c.3170A>T (p.Tyr1057Phe)
c.4016A>T (p.Tyr1339Phe)
c.3536A>T (p.Tyr1179Phe)
12g.47974324T>CCA384533987COL2A1c.3875A>G (p.Tyr1292Cys)
c.4082A>G (p.Tyr1361Cys)
n.3168A>G
c.4226A>G (p.Tyr1409Cys)
c.4223A>G (p.Tyr1408Cys)
c.3170A>G (p.Tyr1057Cys)
c.4016A>G (p.Tyr1339Cys)
c.3536A>G (p.Tyr1179Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47974324T>GCA384533989COL2A1c.3875A>C (p.Tyr1292Ser)
c.4082A>C (p.Tyr1361Ser)
n.3168A>C
c.4226A>C (p.Tyr1409Ser)
c.4223A>C (p.Tyr1408Ser)
c.3170A>C (p.Tyr1057Ser)
c.4016A>C (p.Tyr1339Ser)
c.3536A>C (p.Tyr1179Ser)
12g.47974324T=CA2034472354COL2A1c.3875A= (p.Tyr1292=)
c.4082A= (p.Tyr1361=)
n.3168A=
c.4226A= (p.Tyr1409=)
c.4223A= (p.Tyr1408=)
c.3170A= (p.Tyr1057=)
c.4016A= (p.Tyr1339=)
c.3536A= (p.Tyr1179=)
12g.47974325A>CCA384533993COL2A1c.3874T>G (p.Tyr1292Asp)
c.4081T>G (p.Tyr1361Asp)
n.3167T>G
c.4225T>G (p.Tyr1409Asp)
c.4222T>G (p.Tyr1408Asp)
c.3169T>G (p.Tyr1057Asp)
c.4015T>G (p.Tyr1339Asp)
c.3535T>G (p.Tyr1179Asp)
 ClinVar
12g.47974325A>GCA384533995COL2A1c.3874T>C (p.Tyr1292His)
c.4081T>C (p.Tyr1361His)
n.3167T>C
c.4225T>C (p.Tyr1409His)
c.4222T>C (p.Tyr1408His)
c.3169T>C (p.Tyr1057His)
c.4015T>C (p.Tyr1339His)
c.3535T>C (p.Tyr1179His)
12g.47974325A>TCA384533991COL2A1c.3874T>A (p.Tyr1292Asn)
c.4081T>A (p.Tyr1361Asn)
n.3167T>A
c.4225T>A (p.Tyr1409Asn)
c.4222T>A (p.Tyr1408Asn)
c.3169T>A (p.Tyr1057Asn)
c.4015T>A (p.Tyr1339Asn)
c.3535T>A (p.Tyr1179Asn)
 dbSNP
12g.47974326G>ACA479450273COL2A1c.3873C>T (p.Ser1291=)
c.4080C>T (p.Ser1360=)
n.3166C>T
c.4224C>T (p.Ser1408=)
c.4221C>T (p.Ser1407=)
c.3168C>T (p.Ser1056=)
c.4014C>T (p.Ser1338=)
c.3534C>T (p.Ser1178=)
 gnomAD v4
12g.47974326G>CCA384533998COL2A1c.3873C>G (p.Ser1291Arg)
c.4080C>G (p.Ser1360Arg)
n.3166C>G
c.4224C>G (p.Ser1408Arg)
c.4221C>G (p.Ser1407Arg)
c.3168C>G (p.Ser1056Arg)
c.4014C>G (p.Ser1338Arg)
c.3534C>G (p.Ser1178Arg)
12g.47974326G>TCA384533997COL2A1c.3873C>A (p.Ser1291Arg)
c.4080C>A (p.Ser1360Arg)
n.3166C>A
c.4224C>A (p.Ser1408Arg)
c.4221C>A (p.Ser1407Arg)
c.3168C>A (p.Ser1056Arg)
c.4014C>A (p.Ser1338Arg)
c.3534C>A (p.Ser1178Arg)
12g.47974327C>ACA384534004COL2A1c.3872G>T (p.Ser1291Ile)
c.4079G>T (p.Ser1360Ile)
n.3165G>T
c.4223G>T (p.Ser1408Ile)
c.4220G>T (p.Ser1407Ile)
c.3167G>T (p.Ser1056Ile)
c.4013G>T (p.Ser1338Ile)
c.3533G>T (p.Ser1178Ile)
12g.47974327C>GCA384534000COL2A1c.3872G>C (p.Ser1291Thr)
c.4079G>C (p.Ser1360Thr)
n.3165G>C
c.4223G>C (p.Ser1408Thr)
c.4220G>C (p.Ser1407Thr)
c.3167G>C (p.Ser1056Thr)
c.4013G>C (p.Ser1338Thr)
c.3533G>C (p.Ser1178Thr)
12g.47974327C>TCA384534002COL2A1c.3872G>A (p.Ser1291Asn)
c.4079G>A (p.Ser1360Asn)
n.3165G>A
c.4223G>A (p.Ser1408Asn)
c.4220G>A (p.Ser1407Asn)
c.3167G>A (p.Ser1056Asn)
c.4013G>A (p.Ser1338Asn)
c.3533G>A (p.Ser1178Asn)
12g.47974328T>ACA384534006COL2A1c.3871A>T (p.Ser1291Cys)
c.4078A>T (p.Ser1360Cys)
n.3164A>T
c.4222A>T (p.Ser1408Cys)
c.4219A>T (p.Ser1407Cys)
c.3166A>T (p.Ser1056Cys)
c.4012A>T (p.Ser1338Cys)
c.3532A>T (p.Ser1178Cys)
12g.47974328T>CCA384534007COL2A1c.3871A>G (p.Ser1291Gly)
c.4078A>G (p.Ser1360Gly)
n.3164A>G
c.4222A>G (p.Ser1408Gly)
c.4219A>G (p.Ser1407Gly)
c.3166A>G (p.Ser1056Gly)
c.4012A>G (p.Ser1338Gly)
c.3532A>G (p.Ser1178Gly)
 ClinVar dbSNP gnomAD v4
12g.47974328T>GCA384534008COL2A1c.3871A>C (p.Ser1291Arg)
c.4078A>C (p.Ser1360Arg)
n.3164A>C
c.4222A>C (p.Ser1408Arg)
c.4219A>C (p.Ser1407Arg)
c.3166A>C (p.Ser1056Arg)
c.4012A>C (p.Ser1338Arg)
c.3532A>C (p.Ser1178Arg)
12g.47974329G>ACA479450274COL2A1c.3870C>T (p.Phe1290=)
c.4077C>T (p.Phe1359=)
n.3163C>T
c.4221C>T (p.Phe1407=)
c.4218C>T (p.Phe1406=)
c.3165C>T (p.Phe1055=)
c.4011C>T (p.Phe1337=)
c.3531C>T (p.Phe1177=)
12g.47974329G>CCA384534010COL2A1c.3870C>G (p.Phe1290Leu)
c.4077C>G (p.Phe1359Leu)
n.3163C>G
c.4221C>G (p.Phe1407Leu)
c.4218C>G (p.Phe1406Leu)
c.3165C>G (p.Phe1055Leu)
c.4011C>G (p.Phe1337Leu)
c.3531C>G (p.Phe1177Leu)
12g.47974329G>TCA384534011COL2A1c.3870C>A (p.Phe1290Leu)
c.4077C>A (p.Phe1359Leu)
n.3163C>A
c.4221C>A (p.Phe1407Leu)
c.4218C>A (p.Phe1406Leu)
c.3165C>A (p.Phe1055Leu)
c.4011C>A (p.Phe1337Leu)
c.3531C>A (p.Phe1177Leu)
12g.47974330A>CCA384534013COL2A1c.3869T>G (p.Phe1290Cys)
c.4076T>G (p.Phe1359Cys)
n.3162T>G
c.4220T>G (p.Phe1407Cys)
c.4217T>G (p.Phe1406Cys)
c.3164T>G (p.Phe1055Cys)
c.4010T>G (p.Phe1337Cys)
c.3530T>G (p.Phe1177Cys)
12g.47974330A>GCA384534015COL2A1c.3869T>C (p.Phe1290Ser)
c.4076T>C (p.Phe1359Ser)
n.3162T>C
c.4220T>C (p.Phe1407Ser)
c.4217T>C (p.Phe1406Ser)
c.3164T>C (p.Phe1055Ser)
c.4010T>C (p.Phe1337Ser)
c.3530T>C (p.Phe1177Ser)
12g.47974330A>TCA384534017COL2A1c.3869T>A (p.Phe1290Tyr)
c.4076T>A (p.Phe1359Tyr)
n.3162T>A
c.4220T>A (p.Phe1407Tyr)
c.4217T>A (p.Phe1406Tyr)
c.3164T>A (p.Phe1055Tyr)
c.4010T>A (p.Phe1337Tyr)
c.3530T>A (p.Phe1177Tyr)
12g.47974331A>CCA384534020COL2A1c.3868T>G (p.Phe1290Val)
c.4075T>G (p.Phe1359Val)
n.3161T>G
c.4219T>G (p.Phe1407Val)
c.4216T>G (p.Phe1406Val)
c.3163T>G (p.Phe1055Val)
c.4009T>G (p.Phe1337Val)
c.3529T>G (p.Phe1177Val)
12g.47974331A>GCA384534022COL2A1c.3868T>C (p.Phe1290Leu)
c.4075T>C (p.Phe1359Leu)
n.3161T>C
c.4219T>C (p.Phe1407Leu)
c.4216T>C (p.Phe1406Leu)
c.3163T>C (p.Phe1055Leu)
c.4009T>C (p.Phe1337Leu)
c.3529T>C (p.Phe1177Leu)
12g.47974331A>TCA384534023COL2A1c.3868T>A (p.Phe1290Ile)
c.4075T>A (p.Phe1359Ile)
n.3161T>A
c.4219T>A (p.Phe1407Ile)
c.4216T>A (p.Phe1406Ile)
c.3163T>A (p.Phe1055Ile)
c.4009T>A (p.Phe1337Ile)
c.3529T>A (p.Phe1177Ile)
12g.47974332C>ACA384534029COL2A1c.3868-1G>T (n.3868-1G>T)
c.4075-1G>T (n.4075-1G>T)
n.3161-1G>T
c.4219-1G>T (n.4219-1G>T)
c.4216-1G>T (n.4216-1G>T)
c.3163-1G>T (n.3163-1G>T)
c.4009-1G>T (n.4009-1G>T)
c.3529-1G>T (n.3529-1G>T)
 ClinVar dbSNP
12g.47974332C>GCA384534026COL2A1c.3868-1G>C (n.3868-1G>C)
c.4075-1G>C (n.4075-1G>C)
n.3161-1G>C
c.4219-1G>C (n.4219-1G>C)
c.4216-1G>C (n.4216-1G>C)
c.3163-1G>C (n.3163-1G>C)
c.4009-1G>C (n.4009-1G>C)
c.3529-1G>C (n.3529-1G>C)
 ClinVar dbSNP
12g.47974332C>TCA384534028COL2A1c.3868-1G>A (n.3868-1G>A)
c.4075-1G>A (n.4075-1G>A)
n.3161-1G>A
c.4219-1G>A (n.4219-1G>A)
c.4216-1G>A (n.4216-1G>A)
c.3163-1G>A (n.3163-1G>A)
c.4009-1G>A (n.4009-1G>A)
c.3529-1G>A (n.3529-1G>A)
12g.47974333T>ACA384534032COL2A1c.3868-2A>T (n.3868-2A>T)
c.4075-2A>T (n.4075-2A>T)
n.3161-2A>T
c.4219-2A>T (n.4219-2A>T)
c.4216-2A>T (n.4216-2A>T)
c.3163-2A>T (n.3163-2A>T)
c.4009-2A>T (n.4009-2A>T)
c.3529-2A>T (n.3529-2A>T)
12g.47974333T>CCA384534034COL2A1c.3868-2A>G (n.3868-2A>G)
c.4075-2A>G (n.4075-2A>G)
n.3161-2A>G
c.4219-2A>G (n.4219-2A>G)
c.4216-2A>G (n.4216-2A>G)
c.3163-2A>G (n.3163-2A>G)
c.4009-2A>G (n.4009-2A>G)
c.3529-2A>G (n.3529-2A>G)
12g.47974333T>GCA384534036COL2A1c.3868-2A>C (n.3868-2A>C)
c.4075-2A>C (n.4075-2A>C)
n.3161-2A>C
c.4219-2A>C (n.4219-2A>C)
c.4216-2A>C (n.4216-2A>C)
c.3163-2A>C (n.3163-2A>C)
c.4009-2A>C (n.4009-2A>C)
c.3529-2A>C (n.3529-2A>C)
12g.47974334G>ACA6534546COL2A1c.3868-3C>T (n.3868-3C>T)
c.4075-3C>T (n.4075-3C>T)
n.3161-3C>T
c.4219-3C>T (n.4219-3C>T)
c.4216-3C>T (n.4216-3C>T)
c.3163-3C>T (n.3163-3C>T)
c.4009-3C>T (n.4009-3C>T)
c.3529-3C>T (n.3529-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974334G>CCA645369588COL2A1c.3868-3C>G (n.3868-3C>G)
c.4075-3C>G (n.4075-3C>G)
n.3161-3C>G
c.4219-3C>G (n.4219-3C>G)
c.4216-3C>G (n.4216-3C>G)
c.3163-3C>G (n.3163-3C>G)
c.4009-3C>G (n.4009-3C>G)
c.3529-3C>G (n.3529-3C>G)
 ClinVar dbSNP
12g.47974334G=CA2034472362COL2A1c.3868-3C= (n.3868-3C=)
c.4075-3C= (n.4075-3C=)
n.3161-3C=
c.4219-3C= (n.4219-3C=)
c.4216-3C= (n.4216-3C=)
c.3163-3C= (n.3163-3C=)
c.4009-3C= (n.4009-3C=)
c.3529-3C= (n.3529-3C=)
12g.47974334G>TCA605231540COL2A1c.3868-3C>A (n.3868-3C>A)
c.4075-3C>A (n.4075-3C>A)
n.3161-3C>A
c.4219-3C>A (n.4219-3C>A)
c.4216-3C>A (n.4216-3C>A)
c.3163-3C>A (n.3163-3C>A)
c.4009-3C>A (n.4009-3C>A)
c.3529-3C>A (n.3529-3C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47974337G>ACA645570627COL2A1c.3868-6C>T (n.3868-6C>T)
c.4075-6C>T (n.4075-6C>T)
n.3161-6C>T
c.4219-6C>T (n.4219-6C>T)
c.4216-6C>T (n.4216-6C>T)
c.3163-6C>T (n.3163-6C>T)
c.4009-6C>T (n.4009-6C>T)
c.3529-6C>T (n.3529-6C>T)
 COSMIC COSMIC
12g.47974338G>ACA2580085616COL2A1c.3868-7C>T (n.3868-7C>T)
c.4075-7C>T (n.4075-7C>T)
n.3161-7C>T
c.4219-7C>T (n.4219-7C>T)
c.4216-7C>T (n.4216-7C>T)
c.3163-7C>T (n.3163-7C>T)
c.4009-7C>T (n.4009-7C>T)
c.3529-7C>T (n.3529-7C>T)
 ClinVar
12g.47974339G>TCA2618504471COL2A1c.3868-8C>A (n.3868-8C>A)
c.4075-8C>A (n.4075-8C>A)
n.3161-8C>A
c.4219-8C>A (n.4219-8C>A)
c.4216-8C>A (n.4216-8C>A)
c.3163-8C>A (n.3163-8C>A)
c.4009-8C>A (n.4009-8C>A)
c.3529-8C>A (n.3529-8C>A)
 gnomAD v4
12g.47974340G>TCA2618504473COL2A1c.3868-9C>A (n.3868-9C>A)
c.4075-9C>A (n.4075-9C>A)
n.3161-9C>A
c.4219-9C>A (n.4219-9C>A)
c.4216-9C>A (n.4216-9C>A)
c.3163-9C>A (n.3163-9C>A)
c.4009-9C>A (n.4009-9C>A)
c.3529-9C>A (n.3529-9C>A)
 gnomAD v4
12g.47974341C>TCA2618504474COL2A1c.3868-10G>A (n.3868-10G>A)
c.4075-10G>A (n.4075-10G>A)
n.3161-10G>A
c.4219-10G>A (n.4219-10G>A)
c.4216-10G>A (n.4216-10G>A)
c.3163-10G>A (n.3163-10G>A)
c.4009-10G>A (n.4009-10G>A)
c.3529-10G>A (n.3529-10G>A)
 gnomAD v4
12g.47974341_47974351delCA2795861646COL2A1c.3868-20_3868-10del (n.3868-20_3868-10del)
c.4075-20_4075-10del (n.4075-20_4075-10del)
n.3161-20_3161-10del
c.4219-20_4219-10del (n.4219-20_4219-10del)
c.4216-20_4216-10del (n.4216-20_4216-10del)
c.3163-20_3163-10del (n.3163-20_3163-10del)
c.4009-20_4009-10del (n.4009-20_4009-10del)
c.3529-20_3529-10del (n.3529-20_3529-10del)
12g.47974343G>ACA6534547COL2A1c.3868-12C>T (n.3868-12C>T)
c.4075-12C>T (n.4075-12C>T)
n.3161-12C>T
c.4219-12C>T (n.4219-12C>T)
c.4216-12C>T (n.4216-12C>T)
c.3163-12C>T (n.3163-12C>T)
c.4009-12C>T (n.4009-12C>T)
c.3529-12C>T (n.3529-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974343G=CA2034472368COL2A1c.3868-12C= (n.3868-12C=)
c.4075-12C= (n.4075-12C=)
n.3161-12C=
c.4219-12C= (n.4219-12C=)
c.4216-12C= (n.4216-12C=)
c.3163-12C= (n.3163-12C=)
c.4009-12C= (n.4009-12C=)
c.3529-12C= (n.3529-12C=)
12g.47974344A=CA2034472370COL2A1c.3868-13T= (n.3868-13T=)
c.4075-13T= (n.4075-13T=)
n.3161-13T=
c.4219-13T= (n.4219-13T=)
c.4216-13T= (n.4216-13T=)
c.3163-13T= (n.3163-13T=)
c.4009-13T= (n.4009-13T=)
c.3529-13T= (n.3529-13T=)
12g.47974344A>GCA6534548COL2A1c.3868-13T>C (n.3868-13T>C)
c.4075-13T>C (n.4075-13T>C)
n.3161-13T>C
c.4219-13T>C (n.4219-13T>C)
c.4216-13T>C (n.4216-13T>C)
c.3163-13T>C (n.3163-13T>C)
c.4009-13T>C (n.4009-13T>C)
c.3529-13T>C (n.3529-13T>C)
 dbSNP ExAC gnomAD v2
12g.47974345G>ACA605231541COL2A1c.3868-14C>T (n.3868-14C>T)
c.4075-14C>T (n.4075-14C>T)
n.3161-14C>T
c.4219-14C>T (n.4219-14C>T)
c.4216-14C>T (n.4216-14C>T)
c.3163-14C>T (n.3163-14C>T)
c.4009-14C>T (n.4009-14C>T)
c.3529-14C>T (n.3529-14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47974345G>CCA6534549COL2A1c.3868-14C>G (n.3868-14C>G)
c.4075-14C>G (n.4075-14C>G)
n.3161-14C>G
c.4219-14C>G (n.4219-14C>G)
c.4216-14C>G (n.4216-14C>G)
c.3163-14C>G (n.3163-14C>G)
c.4009-14C>G (n.4009-14C>G)
c.3529-14C>G (n.3529-14C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974345G=CA1630855642COL2A1c.3868-14C= (n.3868-14C=)
c.4075-14C= (n.4075-14C=)
n.3161-14C=
c.4219-14C= (n.4219-14C=)
c.4216-14C= (n.4216-14C=)
c.3163-14C= (n.3163-14C=)
c.4009-14C= (n.4009-14C=)
c.3529-14C= (n.3529-14C=)
12g.47974345G>TCA2581085768COL2A1c.3868-14C>A (n.3868-14C>A)
c.4075-14C>A (n.4075-14C>A)
n.3161-14C>A
c.4219-14C>A (n.4219-14C>A)
c.4216-14C>A (n.4216-14C>A)
c.3163-14C>A (n.3163-14C>A)
c.4009-14C>A (n.4009-14C>A)
c.3529-14C>A (n.3529-14C>A)
12g.47974346A=CA2034472376COL2A1c.3868-15T= (n.3868-15T=)
c.4075-15T= (n.4075-15T=)
n.3161-15T=
c.4219-15T= (n.4219-15T=)
c.4216-15T= (n.4216-15T=)
c.3163-15T= (n.3163-15T=)
c.4009-15T= (n.4009-15T=)
c.3529-15T= (n.3529-15T=)
12g.47974346A>GCA6534550COL2A1c.3868-15T>C (n.3868-15T>C)
c.4075-15T>C (n.4075-15T>C)
n.3161-15T>C
c.4219-15T>C (n.4219-15T>C)
c.4216-15T>C (n.4216-15T>C)
c.3163-15T>C (n.3163-15T>C)
c.4009-15T>C (n.4009-15T>C)
c.3529-15T>C (n.3529-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974347G>ACA6534551COL2A1c.3868-16C>T (n.3868-16C>T)
c.4075-16C>T (n.4075-16C>T)
n.3161-16C>T
c.4219-16C>T (n.4219-16C>T)
c.4216-16C>T (n.4216-16C>T)
c.3163-16C>T (n.3163-16C>T)
c.4009-16C>T (n.4009-16C>T)
c.3529-16C>T (n.3529-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974347G>CCA2034472381COL2A1c.3868-16C>G (n.3868-16C>G)
c.4075-16C>G (n.4075-16C>G)
n.3161-16C>G
c.4219-16C>G (n.4219-16C>G)
c.4216-16C>G (n.4216-16C>G)
c.3163-16C>G (n.3163-16C>G)
c.4009-16C>G (n.4009-16C>G)
c.3529-16C>G (n.3529-16C>G)
 dbSNP
12g.47974347G=CA2034472379COL2A1c.3868-16C= (n.3868-16C=)
c.4075-16C= (n.4075-16C=)
n.3161-16C=
c.4219-16C= (n.4219-16C=)
c.4216-16C= (n.4216-16C=)
c.3163-16C= (n.3163-16C=)
c.4009-16C= (n.4009-16C=)
c.3529-16C= (n.3529-16C=)
12g.47974348C=CA2034472382COL2A1c.3868-17G= (n.3868-17G=)
c.4075-17G= (n.4075-17G=)
n.3161-17G=
c.4219-17G= (n.4219-17G=)
c.4216-17G= (n.4216-17G=)
c.3163-17G= (n.3163-17G=)
c.4009-17G= (n.4009-17G=)
c.3529-17G= (n.3529-17G=)
12g.47974348C>GCA2580085618COL2A1c.3868-17G>C (n.3868-17G>C)
c.4075-17G>C (n.4075-17G>C)
n.3161-17G>C
c.4219-17G>C (n.4219-17G>C)
c.4216-17G>C (n.4216-17G>C)
c.3163-17G>C (n.3163-17G>C)
c.4009-17G>C (n.4009-17G>C)
c.3529-17G>C (n.3529-17G>C)
 ClinVar
12g.47974348C>TCA6534552COL2A1c.3868-17G>A (n.3868-17G>A)
c.4075-17G>A (n.4075-17G>A)
n.3161-17G>A
c.4219-17G>A (n.4219-17G>A)
c.4216-17G>A (n.4216-17G>A)
c.3163-17G>A (n.3163-17G>A)
c.4009-17G>A (n.4009-17G>A)
c.3529-17G>A (n.3529-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974349G>ACA6534554COL2A1c.3868-18C>T (n.3868-18C>T)
c.4075-18C>T (n.4075-18C>T)
n.3161-18C>T
c.4219-18C>T (n.4219-18C>T)
c.4216-18C>T (n.4216-18C>T)
c.3163-18C>T (n.3163-18C>T)
c.4009-18C>T (n.4009-18C>T)
c.3529-18C>T (n.3529-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974349G>CCA6534553COL2A1c.3868-18C>G (n.3868-18C>G)
c.4075-18C>G (n.4075-18C>G)
n.3161-18C>G
c.4219-18C>G (n.4219-18C>G)
c.4216-18C>G (n.4216-18C>G)
c.3163-18C>G (n.3163-18C>G)
c.4009-18C>G (n.4009-18C>G)
c.3529-18C>G (n.3529-18C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974349G=CA2034472388COL2A1c.3868-18C= (n.3868-18C=)
c.4075-18C= (n.4075-18C=)
n.3161-18C=
c.4219-18C= (n.4219-18C=)
c.4216-18C= (n.4216-18C=)
c.3163-18C= (n.3163-18C=)
c.4009-18C= (n.4009-18C=)
c.3529-18C= (n.3529-18C=)
12g.47974350G>ACA2618504508COL2A1c.3868-19C>T (n.3868-19C>T)
c.4075-19C>T (n.4075-19C>T)
n.3161-19C>T
c.4219-19C>T (n.4219-19C>T)
c.4216-19C>T (n.4216-19C>T)
c.3163-19C>T (n.3163-19C>T)
c.4009-19C>T (n.4009-19C>T)
c.3529-19C>T (n.3529-19C>T)
 gnomAD v4
12g.47974350G=CA2034472389COL2A1c.3868-19C= (n.3868-19C=)
c.4075-19C= (n.4075-19C=)
n.3161-19C=
c.4219-19C= (n.4219-19C=)
c.4216-19C= (n.4216-19C=)
c.3163-19C= (n.3163-19C=)
c.4009-19C= (n.4009-19C=)
c.3529-19C= (n.3529-19C=)
12g.47974350G>TCA689462520COL2A1c.3868-19C>A (n.3868-19C>A)
c.4075-19C>A (n.4075-19C>A)
n.3161-19C>A
c.4219-19C>A (n.4219-19C>A)
c.4216-19C>A (n.4216-19C>A)
c.3163-19C>A (n.3163-19C>A)
c.4009-19C>A (n.4009-19C>A)
c.3529-19C>A (n.3529-19C>A)
 dbSNP
12g.47974351C=CA2034472392COL2A1c.3868-20G= (n.3868-20G=)
c.4075-20G= (n.4075-20G=)
n.3161-20G=
c.4219-20G= (n.4219-20G=)
c.4216-20G= (n.4216-20G=)
c.3163-20G= (n.3163-20G=)
c.4009-20G= (n.4009-20G=)
c.3529-20G= (n.3529-20G=)
12g.47974351C>TCA6534555COL2A1c.3868-20G>A (n.3868-20G>A)
c.4075-20G>A (n.4075-20G>A)
n.3161-20G>A
c.4219-20G>A (n.4219-20G>A)
c.4216-20G>A (n.4216-20G>A)
c.3163-20G>A (n.3163-20G>A)
c.4009-20G>A (n.4009-20G>A)
c.3529-20G>A (n.3529-20G>A)
 dbSNP ExAC gnomAD v2
12g.47974353G>CCA2575137427COL2A1c.3868-22C>G (n.3868-22C>G)
c.4075-22C>G (n.4075-22C>G)
n.3161-22C>G
c.4219-22C>G (n.4219-22C>G)
c.4216-22C>G (n.4216-22C>G)
c.3163-22C>G (n.3163-22C>G)
c.4009-22C>G (n.4009-22C>G)
c.3529-22C>G (n.3529-22C>G)
 gnomAD v4
12g.47974355G>CCA2795861713COL2A1c.3868-24C>G (n.3868-24C>G)
c.4075-24C>G (n.4075-24C>G)
n.3161-24C>G
c.4219-24C>G (n.4219-24C>G)
c.4216-24C>G (n.4216-24C>G)
c.3163-24C>G (n.3163-24C>G)
c.4009-24C>G (n.4009-24C>G)
c.3529-24C>G (n.3529-24C>G)
12g.47974357delCA2795861718COL2A1c.3868-26del (n.3868-26del)
c.4075-26del (n.4075-26del)
n.3161-26del
c.4219-26del (n.4219-26del)
c.4216-26del (n.4216-26del)
c.3163-26del (n.3163-26del)
c.4009-26del (n.4009-26del)
c.3529-26del (n.3529-26del)
12g.47974357G>ACA236516150COL2A1c.3868-26C>T (n.3868-26C>T)
c.4075-26C>T (n.4075-26C>T)
n.3161-26C>T
c.4219-26C>T (n.4219-26C>T)
c.4216-26C>T (n.4216-26C>T)
c.3163-26C>T (n.3163-26C>T)
c.4009-26C>T (n.4009-26C>T)
c.3529-26C>T (n.3529-26C>T)
 dbSNP gnomAD v4
12g.47974357G=CA2034472394COL2A1c.3868-26C= (n.3868-26C=)
c.4075-26C= (n.4075-26C=)
n.3161-26C=
c.4219-26C= (n.4219-26C=)
c.4216-26C= (n.4216-26C=)
c.3163-26C= (n.3163-26C=)
c.4009-26C= (n.4009-26C=)
c.3529-26C= (n.3529-26C=)
12g.47974358A>GCA2618504512COL2A1c.3868-27T>C (n.3868-27T>C)
c.4075-27T>C (n.4075-27T>C)
n.3161-27T>C
c.4219-27T>C (n.4219-27T>C)
c.4216-27T>C (n.4216-27T>C)
c.3163-27T>C (n.3163-27T>C)
c.4009-27T>C (n.4009-27T>C)
c.3529-27T>C (n.3529-27T>C)
 gnomAD v4
12g.47974359G>ACA6534556COL2A1c.3868-28C>T (n.3868-28C>T)
c.4075-28C>T (n.4075-28C>T)
n.3161-28C>T
c.4219-28C>T (n.4219-28C>T)
c.4216-28C>T (n.4216-28C>T)
c.3163-28C>T (n.3163-28C>T)
c.4009-28C>T (n.4009-28C>T)
c.3529-28C>T (n.3529-28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974359G=CA2034472396COL2A1c.3868-28C= (n.3868-28C=)
c.4075-28C= (n.4075-28C=)
n.3161-28C=
c.4219-28C= (n.4219-28C=)
c.4216-28C= (n.4216-28C=)
c.3163-28C= (n.3163-28C=)
c.4009-28C= (n.4009-28C=)
c.3529-28C= (n.3529-28C=)
12g.47974359G>TCA2618504513COL2A1c.3868-28C>A (n.3868-28C>A)
c.4075-28C>A (n.4075-28C>A)
n.3161-28C>A
c.4219-28C>A (n.4219-28C>A)
c.4216-28C>A (n.4216-28C>A)
c.3163-28C>A (n.3163-28C>A)
c.4009-28C>A (n.4009-28C>A)
c.3529-28C>A (n.3529-28C>A)
 gnomAD v4
12g.47974360G>TCA2618504514COL2A1c.3868-29C>A (n.3868-29C>A)
c.4075-29C>A (n.4075-29C>A)
n.3161-29C>A
c.4219-29C>A (n.4219-29C>A)
c.4216-29C>A (n.4216-29C>A)
c.3163-29C>A (n.3163-29C>A)
c.4009-29C>A (n.4009-29C>A)
c.3529-29C>A (n.3529-29C>A)
 gnomAD v4
12g.47974361C>TCA2618504515COL2A1c.3868-30G>A (n.3868-30G>A)
c.4075-30G>A (n.4075-30G>A)
n.3161-30G>A
c.4219-30G>A (n.4219-30G>A)
c.4216-30G>A (n.4216-30G>A)
c.3163-30G>A (n.3163-30G>A)
c.4009-30G>A (n.4009-30G>A)
c.3529-30G>A (n.3529-30G>A)
 gnomAD v4
12g.47974362C>ACA2575137428COL2A1c.3868-31G>T (n.3868-31G>T)
c.4075-31G>T (n.4075-31G>T)
n.3161-31G>T
c.4219-31G>T (n.4219-31G>T)
c.4216-31G>T (n.4216-31G>T)
c.3163-31G>T (n.3163-31G>T)
c.4009-31G>T (n.4009-31G>T)
c.3529-31G>T (n.3529-31G>T)
12g.47974362C>TCA2618504516COL2A1c.3868-31G>A (n.3868-31G>A)
c.4075-31G>A (n.4075-31G>A)
n.3161-31G>A
c.4219-31G>A (n.4219-31G>A)
c.4216-31G>A (n.4216-31G>A)
c.3163-31G>A (n.3163-31G>A)
c.4009-31G>A (n.4009-31G>A)
c.3529-31G>A (n.3529-31G>A)
 gnomAD v4
12g.47974363T>GCA2618504519COL2A1c.3868-32A>C (n.3868-32A>C)
c.4075-32A>C (n.4075-32A>C)
n.3161-32A>C
c.4219-32A>C (n.4219-32A>C)
c.4216-32A>C (n.4216-32A>C)
c.3163-32A>C (n.3163-32A>C)
c.4009-32A>C (n.4009-32A>C)
c.3529-32A>C (n.3529-32A>C)
 gnomAD v4
12g.47974363_47974366delCA2795861725COL2A1c.3868-35_3868-32del (n.3868-35_3868-32del)
c.4075-35_4075-32del (n.4075-35_4075-32del)
n.3161-35_3161-32del
c.4219-35_4219-32del (n.4219-35_4219-32del)
c.4216-35_4216-32del (n.4216-35_4216-32del)
c.3163-35_3163-32del (n.3163-35_3163-32del)
c.4009-35_4009-32del (n.4009-35_4009-32del)
c.3529-35_3529-32del (n.3529-35_3529-32del)
12g.47974364G>ACA236516156COL2A1c.3868-33C>T (n.3868-33C>T)
c.4075-33C>T (n.4075-33C>T)
n.3161-33C>T
c.4219-33C>T (n.4219-33C>T)
c.4216-33C>T (n.4216-33C>T)
c.3163-33C>T (n.3163-33C>T)
c.4009-33C>T (n.4009-33C>T)
c.3529-33C>T (n.3529-33C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47974364G=CA2034472399COL2A1c.3868-33C= (n.3868-33C=)
c.4075-33C= (n.4075-33C=)
n.3161-33C=
c.4219-33C= (n.4219-33C=)
c.4216-33C= (n.4216-33C=)
c.3163-33C= (n.3163-33C=)
c.4009-33C= (n.4009-33C=)
c.3529-33C= (n.3529-33C=)
12g.47974364G>TCA2618504521COL2A1c.3868-33C>A (n.3868-33C>A)
c.4075-33C>A (n.4075-33C>A)
n.3161-33C>A
c.4219-33C>A (n.4219-33C>A)
c.4216-33C>A (n.4216-33C>A)
c.3163-33C>A (n.3163-33C>A)
c.4009-33C>A (n.4009-33C>A)
c.3529-33C>A (n.3529-33C>A)
 gnomAD v4
12g.47974365_47974366delCA2795861729COL2A1c.3868-34_3868-33del (n.3868-34_3868-33del)
c.4075-34_4075-33del (n.4075-34_4075-33del)
n.3161-34_3161-33del
c.4219-34_4219-33del (n.4219-34_4219-33del)
c.4216-34_4216-33del (n.4216-34_4216-33del)
c.3163-34_3163-33del (n.3163-34_3163-33del)
c.4009-34_4009-33del (n.4009-34_4009-33del)
c.3529-34_3529-33del (n.3529-34_3529-33del)
12g.47974371_47974454delCA2795861731COL2A1c.3868-116_3868-33del (n.3868-116_3868-33del)
c.4075-116_4075-33del (n.4075-116_4075-33del)
n.3161-116_3161-33del
c.4219-116_4219-33del (n.4219-116_4219-33del)
c.4216-116_4216-33del (n.4216-116_4216-33del)
c.3163-116_3163-33del (n.3163-116_3163-33del)
c.4009-116_4009-33del (n.4009-116_4009-33del)
c.3529-116_3529-33del (n.3529-116_3529-33del)
12g.47974365G>ACA2618504523COL2A1c.3868-34C>T (n.3868-34C>T)
c.4075-34C>T (n.4075-34C>T)
n.3161-34C>T
c.4219-34C>T (n.4219-34C>T)
c.4216-34C>T (n.4216-34C>T)
c.3163-34C>T (n.3163-34C>T)
c.4009-34C>T (n.4009-34C>T)
c.3529-34C>T (n.3529-34C>T)
 gnomAD v4
12g.47974365G>TCA2618504524COL2A1c.3868-34C>A (n.3868-34C>A)
c.4075-34C>A (n.4075-34C>A)
n.3161-34C>A
c.4219-34C>A (n.4219-34C>A)
c.4216-34C>A (n.4216-34C>A)
c.3163-34C>A (n.3163-34C>A)
c.4009-34C>A (n.4009-34C>A)
c.3529-34C>A (n.3529-34C>A)
 gnomAD v4
12g.47974366G>ACA2034472403COL2A1c.3868-35C>T (n.3868-35C>T)
c.4075-35C>T (n.4075-35C>T)
n.3161-35C>T
c.4219-35C>T (n.4219-35C>T)
c.4216-35C>T (n.4216-35C>T)
c.3163-35C>T (n.3163-35C>T)
c.4009-35C>T (n.4009-35C>T)
c.3529-35C>T (n.3529-35C>T)
 dbSNP gnomAD v4
12g.47974366G=CA2034472402COL2A1c.3868-35C= (n.3868-35C=)
c.4075-35C= (n.4075-35C=)
n.3161-35C=
c.4219-35C= (n.4219-35C=)
c.4216-35C= (n.4216-35C=)
c.3163-35C= (n.3163-35C=)
c.4009-35C= (n.4009-35C=)
c.3529-35C= (n.3529-35C=)
12g.47974366G>TCA2618504528COL2A1c.3868-35C>A (n.3868-35C>A)
c.4075-35C>A (n.4075-35C>A)
n.3161-35C>A
c.4219-35C>A (n.4219-35C>A)
c.4216-35C>A (n.4216-35C>A)
c.3163-35C>A (n.3163-35C>A)
c.4009-35C>A (n.4009-35C>A)
c.3529-35C>A (n.3529-35C>A)
 gnomAD v4
12g.47974367A>GCA2618504536COL2A1c.3868-36T>C (n.3868-36T>C)
c.4075-36T>C (n.4075-36T>C)
n.3161-36T>C
c.4219-36T>C (n.4219-36T>C)
c.4216-36T>C (n.4216-36T>C)
c.3163-36T>C (n.3163-36T>C)
c.4009-36T>C (n.4009-36T>C)
c.3529-36T>C (n.3529-36T>C)
 gnomAD v4
12g.47974368G>ACA2575137429COL2A1c.3868-37C>T (n.3868-37C>T)
c.4075-37C>T (n.4075-37C>T)
n.3161-37C>T
c.4219-37C>T (n.4219-37C>T)
c.4216-37C>T (n.4216-37C>T)
c.3163-37C>T (n.3163-37C>T)
c.4009-37C>T (n.4009-37C>T)
c.3529-37C>T (n.3529-37C>T)
12g.47974368G>CCA2618504538COL2A1c.3868-37C>G (n.3868-37C>G)
c.4075-37C>G (n.4075-37C>G)
n.3161-37C>G
c.4219-37C>G (n.4219-37C>G)
c.4216-37C>G (n.4216-37C>G)
c.3163-37C>G (n.3163-37C>G)
c.4009-37C>G (n.4009-37C>G)
c.3529-37C>G (n.3529-37C>G)
 gnomAD v4
12g.47974368G>TCA2618504540COL2A1c.3868-37C>A (n.3868-37C>A)
c.4075-37C>A (n.4075-37C>A)
n.3161-37C>A
c.4219-37C>A (n.4219-37C>A)
c.4216-37C>A (n.4216-37C>A)
c.3163-37C>A (n.3163-37C>A)
c.4009-37C>A (n.4009-37C>A)
c.3529-37C>A (n.3529-37C>A)
 gnomAD v4
12g.47974368_47974372delCA2795861736COL2A1c.3868-41_3868-37del (n.3868-41_3868-37del)
c.4075-41_4075-37del (n.4075-41_4075-37del)
n.3161-41_3161-37del
c.4219-41_4219-37del (n.4219-41_4219-37del)
c.4216-41_4216-37del (n.4216-41_4216-37del)
c.3163-41_3163-37del (n.3163-41_3163-37del)
c.4009-41_4009-37del (n.4009-41_4009-37del)
c.3529-41_3529-37del (n.3529-41_3529-37del)
12g.47974370_47974373delCA2795861735COL2A1c.3868-40_3868-37del (n.3868-40_3868-37del)
c.4075-40_4075-37del (n.4075-40_4075-37del)
n.3161-40_3161-37del
c.4219-40_4219-37del (n.4219-40_4219-37del)
c.4216-40_4216-37del (n.4216-40_4216-37del)
c.3163-40_3163-37del (n.3163-40_3163-37del)
c.4009-40_4009-37del (n.4009-40_4009-37del)
c.3529-40_3529-37del (n.3529-40_3529-37del)
12g.47974369C>ACA6534557COL2A1c.3868-38G>T (n.3868-38G>T)
c.4075-38G>T (n.4075-38G>T)
n.3161-38G>T
c.4219-38G>T (n.4219-38G>T)
c.4216-38G>T (n.4216-38G>T)
c.3163-38G>T (n.3163-38G>T)
c.4009-38G>T (n.4009-38G>T)
c.3529-38G>T (n.3529-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974369C=CA2034472407COL2A1c.3868-38G= (n.3868-38G=)
c.4075-38G= (n.4075-38G=)
n.3161-38G=
c.4219-38G= (n.4219-38G=)
c.4216-38G= (n.4216-38G=)
c.3163-38G= (n.3163-38G=)
c.4009-38G= (n.4009-38G=)
c.3529-38G= (n.3529-38G=)
12g.47974369C>TCA2618504543COL2A1c.3868-38G>A (n.3868-38G>A)
c.4075-38G>A (n.4075-38G>A)
n.3161-38G>A
c.4219-38G>A (n.4219-38G>A)
c.4216-38G>A (n.4216-38G>A)
c.3163-38G>A (n.3163-38G>A)
c.4009-38G>A (n.4009-38G>A)
c.3529-38G>A (n.3529-38G>A)
 gnomAD v4
12g.47974370T>ACA6534558COL2A1c.3868-39A>T (n.3868-39A>T)
c.4075-39A>T (n.4075-39A>T)
n.3161-39A>T
c.4219-39A>T (n.4219-39A>T)
c.4216-39A>T (n.4216-39A>T)
c.3163-39A>T (n.3163-39A>T)
c.4009-39A>T (n.4009-39A>T)
c.3529-39A>T (n.3529-39A>T)
 dbSNP ExAC gnomAD v2
12g.47974370T=CA2034472410COL2A1c.3868-39A= (n.3868-39A=)
c.4075-39A= (n.4075-39A=)
n.3161-39A=
c.4219-39A= (n.4219-39A=)
c.4216-39A= (n.4216-39A=)
c.3163-39A= (n.3163-39A=)
c.4009-39A= (n.4009-39A=)
c.3529-39A= (n.3529-39A=)
12g.47974370_47974371delCA2795861738COL2A1c.3868-40_3868-39del (n.3868-40_3868-39del)
c.4075-40_4075-39del (n.4075-40_4075-39del)
n.3161-40_3161-39del
c.4219-40_4219-39del (n.4219-40_4219-39del)
c.4216-40_4216-39del (n.4216-40_4216-39del)
c.3163-40_3163-39del (n.3163-40_3163-39del)
c.4009-40_4009-39del (n.4009-40_4009-39del)
c.3529-40_3529-39del (n.3529-40_3529-39del)
12g.47974371G>ACA6534559COL2A1c.3868-40C>T (n.3868-40C>T)
c.4075-40C>T (n.4075-40C>T)
n.3161-40C>T
c.4219-40C>T (n.4219-40C>T)
c.4216-40C>T (n.4216-40C>T)
c.3163-40C>T (n.3163-40C>T)
c.4009-40C>T (n.4009-40C>T)
c.3529-40C>T (n.3529-40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974371G=CA2034472412COL2A1c.3868-40C= (n.3868-40C=)
c.4075-40C= (n.4075-40C=)
n.3161-40C=
c.4219-40C= (n.4219-40C=)
c.4216-40C= (n.4216-40C=)
c.3163-40C= (n.3163-40C=)
c.4009-40C= (n.4009-40C=)
c.3529-40C= (n.3529-40C=)
12g.47974372delCA2795861739COL2A1c.3868-40del (n.3868-40del)
c.4075-40del (n.4075-40del)
n.3161-40del
c.4219-40del (n.4219-40del)
c.4216-40del (n.4216-40del)
c.3163-40del (n.3163-40del)
c.4009-40del (n.4009-40del)
c.3529-40del (n.3529-40del)
12g.47974372G>ACA2618504547COL2A1c.3868-41C>T (n.3868-41C>T)
c.4075-41C>T (n.4075-41C>T)
n.3161-41C>T
c.4219-41C>T (n.4219-41C>T)
c.4216-41C>T (n.4216-41C>T)
c.3163-41C>T (n.3163-41C>T)
c.4009-41C>T (n.4009-41C>T)
c.3529-41C>T (n.3529-41C>T)
 gnomAD v4
12g.47974372G>TCA2618504548COL2A1c.3868-41C>A (n.3868-41C>A)
c.4075-41C>A (n.4075-41C>A)
n.3161-41C>A
c.4219-41C>A (n.4219-41C>A)
c.4216-41C>A (n.4216-41C>A)
c.3163-41C>A (n.3163-41C>A)
c.4009-41C>A (n.4009-41C>A)
c.3529-41C>A (n.3529-41C>A)
 gnomAD v4
12g.47974372_47974373insACACA2795861742COL2A1c.3868-42_3868-41insTGT (n.3868-42_3868-41insTGT)
c.4075-42_4075-41insTGT (n.4075-42_4075-41insTGT)
n.3161-42_3161-41insTGT
c.4219-42_4219-41insTGT (n.4219-42_4219-41insTGT)
c.4216-42_4216-41insTGT (n.4216-42_4216-41insTGT)
c.3163-42_3163-41insTGT (n.3163-42_3163-41insTGT)
c.4009-42_4009-41insTGT (n.4009-42_4009-41insTGT)
c.3529-42_3529-41insTGT (n.3529-42_3529-41insTGT)
12g.47974373C>TCA2618504550COL2A1c.3868-42G>A (n.3868-42G>A)
c.4075-42G>A (n.4075-42G>A)
n.3161-42G>A
c.4219-42G>A (n.4219-42G>A)
c.4216-42G>A (n.4216-42G>A)
c.3163-42G>A (n.3163-42G>A)
c.4009-42G>A (n.4009-42G>A)
c.3529-42G>A (n.3529-42G>A)
 gnomAD v4
12g.47974375T>CCA2618504552COL2A1c.3868-44A>G (n.3868-44A>G)
c.4075-44A>G (n.4075-44A>G)
n.3161-44A>G
c.4219-44A>G (n.4219-44A>G)
c.4216-44A>G (n.4216-44A>G)
c.3163-44A>G (n.3163-44A>G)
c.4009-44A>G (n.4009-44A>G)
c.3529-44A>G (n.3529-44A>G)
 gnomAD v4
12g.47974375_47974376delCA2795861746COL2A1c.3868-45_3868-44del (n.3868-45_3868-44del)
c.4075-45_4075-44del (n.4075-45_4075-44del)
n.3161-45_3161-44del
c.4219-45_4219-44del (n.4219-45_4219-44del)
c.4216-45_4216-44del (n.4216-45_4216-44del)
c.3163-45_3163-44del (n.3163-45_3163-44del)
c.4009-45_4009-44del (n.4009-45_4009-44del)
c.3529-45_3529-44del (n.3529-45_3529-44del)
12g.47974376T>CCA2618504556COL2A1c.3868-45A>G (n.3868-45A>G)
c.4075-45A>G (n.4075-45A>G)
n.3161-45A>G
c.4219-45A>G (n.4219-45A>G)
c.4216-45A>G (n.4216-45A>G)
c.3163-45A>G (n.3163-45A>G)
c.4009-45A>G (n.4009-45A>G)
c.3529-45A>G (n.3529-45A>G)
 gnomAD v4
12g.47974377C>ACA2618504558COL2A1c.3868-46G>T (n.3868-46G>T)
c.4075-46G>T (n.4075-46G>T)
n.3161-46G>T
c.4219-46G>T (n.4219-46G>T)
c.4216-46G>T (n.4216-46G>T)
c.3163-46G>T (n.3163-46G>T)
c.4009-46G>T (n.4009-46G>T)
c.3529-46G>T (n.3529-46G>T)
 gnomAD v4
12g.47974377C=CA2034472414COL2A1c.3868-46G= (n.3868-46G=)
c.4075-46G= (n.4075-46G=)
n.3161-46G=
c.4219-46G= (n.4219-46G=)
c.4216-46G= (n.4216-46G=)
c.3163-46G= (n.3163-46G=)
c.4009-46G= (n.4009-46G=)
c.3529-46G= (n.3529-46G=)
12g.47974377C>TCA2034472415COL2A1c.3868-46G>A (n.3868-46G>A)
c.4075-46G>A (n.4075-46G>A)
n.3161-46G>A
c.4219-46G>A (n.4219-46G>A)
c.4216-46G>A (n.4216-46G>A)
c.3163-46G>A (n.3163-46G>A)
c.4009-46G>A (n.4009-46G>A)
c.3529-46G>A (n.3529-46G>A)
 dbSNP gnomAD v4
12g.47974378A>CCA2618504561COL2A1c.3868-47T>G (n.3868-47T>G)
c.4075-47T>G (n.4075-47T>G)
n.3161-47T>G
c.4219-47T>G (n.4219-47T>G)
c.4216-47T>G (n.4216-47T>G)
c.3163-47T>G (n.3163-47T>G)
c.4009-47T>G (n.4009-47T>G)
c.3529-47T>G (n.3529-47T>G)
 gnomAD v4
12g.47974378A>TCA2618504562COL2A1c.3868-47T>A (n.3868-47T>A)
c.4075-47T>A (n.4075-47T>A)
n.3161-47T>A
c.4219-47T>A (n.4219-47T>A)
c.4216-47T>A (n.4216-47T>A)
c.3163-47T>A (n.3163-47T>A)
c.4009-47T>A (n.4009-47T>A)
c.3529-47T>A (n.3529-47T>A)
 gnomAD v4
12g.47974379A=CA2034472416COL2A1c.3868-48T= (n.3868-48T=)
c.4075-48T= (n.4075-48T=)
n.3161-48T=
c.4219-48T= (n.4219-48T=)
c.4216-48T= (n.4216-48T=)
c.3163-48T= (n.3163-48T=)
c.4009-48T= (n.4009-48T=)
c.3529-48T= (n.3529-48T=)
12g.47974379A>GCA2034472417COL2A1c.3868-48T>C (n.3868-48T>C)
c.4075-48T>C (n.4075-48T>C)
n.3161-48T>C
c.4219-48T>C (n.4219-48T>C)
c.4216-48T>C (n.4216-48T>C)
c.3163-48T>C (n.3163-48T>C)
c.4009-48T>C (n.4009-48T>C)
c.3529-48T>C (n.3529-48T>C)
 dbSNP
12g.47974381G>ACA2726229582COL2A1c.3868-50C>T (n.3868-50C>T)
c.4075-50C>T (n.4075-50C>T)
n.3161-50C>T
c.4219-50C>T (n.4219-50C>T)
c.4216-50C>T (n.4216-50C>T)
c.3163-50C>T (n.3163-50C>T)
c.4009-50C>T (n.4009-50C>T)
c.3529-50C>T (n.3529-50C>T)
 dbSNP
12g.47974381G>TCA2618504563COL2A1c.3868-50C>A (n.3868-50C>A)
c.4075-50C>A (n.4075-50C>A)
n.3161-50C>A
c.4219-50C>A (n.4219-50C>A)
c.4216-50C>A (n.4216-50C>A)
c.3163-50C>A (n.3163-50C>A)
c.4009-50C>A (n.4009-50C>A)
c.3529-50C>A (n.3529-50C>A)
 gnomAD v4
12g.47974382G>ACA236516175COL2A1c.3868-51C>T (n.3868-51C>T)
c.4075-51C>T (n.4075-51C>T)
n.3161-51C>T
c.4219-51C>T (n.4219-51C>T)
c.4216-51C>T (n.4216-51C>T)
c.3163-51C>T (n.3163-51C>T)
c.4009-51C>T (n.4009-51C>T)
c.3529-51C>T (n.3529-51C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47974382G>CCA605231542COL2A1c.3868-51C>G (n.3868-51C>G)
c.4075-51C>G (n.4075-51C>G)
n.3161-51C>G
c.4219-51C>G (n.4219-51C>G)
c.4216-51C>G (n.4216-51C>G)
c.3163-51C>G (n.3163-51C>G)
c.4009-51C>G (n.4009-51C>G)
c.3529-51C>G (n.3529-51C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.47974382G=CA2034472419COL2A1c.3868-51C= (n.3868-51C=)
c.4075-51C= (n.4075-51C=)
n.3161-51C=
c.4219-51C= (n.4219-51C=)
c.4216-51C= (n.4216-51C=)
c.3163-51C= (n.3163-51C=)
c.4009-51C= (n.4009-51C=)
c.3529-51C= (n.3529-51C=)
12g.47974382G>TCA2618504566COL2A1c.3868-51C>A (n.3868-51C>A)
c.4075-51C>A (n.4075-51C>A)
n.3161-51C>A
c.4219-51C>A (n.4219-51C>A)
c.4216-51C>A (n.4216-51C>A)
c.3163-51C>A (n.3163-51C>A)
c.4009-51C>A (n.4009-51C>A)
c.3529-51C>A (n.3529-51C>A)
 gnomAD v4
12g.47974382_47974383insAGACA2795861750COL2A1c.3868-52_3868-51insTCT (n.3868-52_3868-51insTCT)
c.4075-52_4075-51insTCT (n.4075-52_4075-51insTCT)
n.3161-52_3161-51insTCT
c.4219-52_4219-51insTCT (n.4219-52_4219-51insTCT)
c.4216-52_4216-51insTCT (n.4216-52_4216-51insTCT)
c.3163-52_3163-51insTCT (n.3163-52_3163-51insTCT)
c.4009-52_4009-51insTCT (n.4009-52_4009-51insTCT)
c.3529-52_3529-51insTCT (n.3529-52_3529-51insTCT)
12g.47974383G>ACA236516176COL2A1c.3868-52C>T (n.3868-52C>T)
c.4075-52C>T (n.4075-52C>T)
n.3161-52C>T
c.4219-52C>T (n.4219-52C>T)
c.4216-52C>T (n.4216-52C>T)
c.3163-52C>T (n.3163-52C>T)
c.4009-52C>T (n.4009-52C>T)
c.3529-52C>T (n.3529-52C>T)
 dbSNP gnomAD v4
12g.47974383G=CA2034472422COL2A1c.3868-52C= (n.3868-52C=)
c.4075-52C= (n.4075-52C=)
n.3161-52C=
c.4219-52C= (n.4219-52C=)
c.4216-52C= (n.4216-52C=)
c.3163-52C= (n.3163-52C=)
c.4009-52C= (n.4009-52C=)
c.3529-52C= (n.3529-52C=)
12g.47974383G>TCA2618504571COL2A1c.3868-52C>A (n.3868-52C>A)
c.4075-52C>A (n.4075-52C>A)
n.3161-52C>A
c.4219-52C>A (n.4219-52C>A)
c.4216-52C>A (n.4216-52C>A)
c.3163-52C>A (n.3163-52C>A)
c.4009-52C>A (n.4009-52C>A)
c.3529-52C>A (n.3529-52C>A)
 gnomAD v4
12g.47974384A>GCA2618504574COL2A1c.3868-53T>C (n.3868-53T>C)
c.4075-53T>C (n.4075-53T>C)
n.3161-53T>C
c.4219-53T>C (n.4219-53T>C)
c.4216-53T>C (n.4216-53T>C)
c.3163-53T>C (n.3163-53T>C)
c.4009-53T>C (n.4009-53T>C)
c.3529-53T>C (n.3529-53T>C)
 gnomAD v4
12g.47974385C>ACA689462539COL2A1c.3868-54G>T (n.3868-54G>T)
c.4075-54G>T (n.4075-54G>T)
n.3161-54G>T
c.4219-54G>T (n.4219-54G>T)
c.4216-54G>T (n.4216-54G>T)
c.3163-54G>T (n.3163-54G>T)
c.4009-54G>T (n.4009-54G>T)
c.3529-54G>T (n.3529-54G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47974385C=CA2034472423COL2A1c.3868-54G= (n.3868-54G=)
c.4075-54G= (n.4075-54G=)
n.3161-54G=
c.4219-54G= (n.4219-54G=)
c.4216-54G= (n.4216-54G=)
c.3163-54G= (n.3163-54G=)
c.4009-54G= (n.4009-54G=)
c.3529-54G= (n.3529-54G=)
12g.47974386C>ACA236516177COL2A1c.3868-55G>T (n.3868-55G>T)
c.4075-55G>T (n.4075-55G>T)
n.3161-55G>T
c.4219-55G>T (n.4219-55G>T)
c.4216-55G>T (n.4216-55G>T)
c.3163-55G>T (n.3163-55G>T)
c.4009-55G>T (n.4009-55G>T)
c.3529-55G>T (n.3529-55G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47974386C=CA2034472425COL2A1c.3868-55G= (n.3868-55G=)
c.4075-55G= (n.4075-55G=)
n.3161-55G=
c.4219-55G= (n.4219-55G=)
c.4216-55G= (n.4216-55G=)
c.3163-55G= (n.3163-55G=)
c.4009-55G= (n.4009-55G=)
c.3529-55G= (n.3529-55G=)
12g.47974387A>GCA2618504575COL2A1c.3868-56T>C (n.3868-56T>C)
c.4075-56T>C (n.4075-56T>C)
n.3161-56T>C
c.4219-56T>C (n.4219-56T>C)
c.4216-56T>C (n.4216-56T>C)
c.3163-56T>C (n.3163-56T>C)
c.4009-56T>C (n.4009-56T>C)
c.3529-56T>C (n.3529-56T>C)
 gnomAD v4
12g.47974387_47974388delinsAGCA2034472426COL2A1c.3868-57_3868-56delinsCT (n.3868-57_3868-56delinsCT)
c.4075-57_4075-56delinsCT (n.4075-57_4075-56delinsCT)
n.3161-57_3161-56delinsCT
c.4219-57_4219-56delinsCT (n.4219-57_4219-56delinsCT)
c.4216-57_4216-56delinsCT (n.4216-57_4216-56delinsCT)
c.3163-57_3163-56delinsCT (n.3163-57_3163-56delinsCT)
c.4009-57_4009-56delinsCT (n.4009-57_4009-56delinsCT)
c.3529-57_3529-56delinsCT (n.3529-57_3529-56delinsCT)

Number of alleles fetched