Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47977510_47977598delinsCTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACA2034476448COL2A1c.2958+2_2959-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.2958+2_2959-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
c.3165+2_3166-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.3165+2_3166-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
n.2251+2_2252-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG
c.3309+2_3310-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.3309+2_3310-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
c.3306+2_3307-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.3306+2_3307-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
c.2253+2_2254-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.2253+2_2254-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
c.3099+2_3100-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.3099+2_3100-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
c.2619+2_2620-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG (n.2619+2_2620-83delinsTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGGCCTGACAGGTCAGCTGGGGGTGGCAGGTTGGAACAAG)
12g.47977511_47977598delCA1139662611COL2A1c.2958+2_2959-84del (n.2958+2_2959-84del)
c.3165+2_3166-84del (n.3165+2_3166-84del)
n.2251+2_2252-84del
c.3309+2_3310-84del (n.3309+2_3310-84del)
c.3306+2_3307-84del (n.3306+2_3307-84del)
c.2253+2_2254-84del (n.2253+2_2254-84del)
c.3099+2_3100-84del (n.3099+2_3100-84del)
c.2619+2_2620-84del (n.2619+2_2620-84del)
 ClinVar dbSNP gnomAD v4
12g.47977540T>CCA2575137244COL2A1c.2958+60A>G (n.2958+60A>G)
c.3165+60A>G (n.3165+60A>G)
n.2251+60A>G
c.3309+60A>G (n.3309+60A>G)
c.3306+60A>G (n.3306+60A>G)
c.2253+60A>G (n.2253+60A>G)
c.3099+60A>G (n.3099+60A>G)
c.2619+60A>G (n.2619+60A>G)
12g.47977540T>GCA236521130COL2A1c.2958+60A>C (n.2958+60A>C)
c.3165+60A>C (n.3165+60A>C)
n.2251+60A>C
c.3309+60A>C (n.3309+60A>C)
c.3306+60A>C (n.3306+60A>C)
c.2253+60A>C (n.2253+60A>C)
c.3099+60A>C (n.3099+60A>C)
c.2619+60A>C (n.2619+60A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.47977540T=CA2034476460COL2A1c.2958+60A= (n.2958+60A=)
c.3165+60A= (n.3165+60A=)
n.2251+60A=
c.3309+60A= (n.3309+60A=)
c.3306+60A= (n.3306+60A=)
c.2253+60A= (n.2253+60A=)
c.3099+60A= (n.3099+60A=)
c.2619+60A= (n.2619+60A=)
12g.47977541G>TCA2575137245COL2A1c.2958+59C>A (n.2958+59C>A)
c.3165+59C>A (n.3165+59C>A)
n.2251+59C>A
c.3309+59C>A (n.3309+59C>A)
c.3306+59C>A (n.3306+59C>A)
c.2253+59C>A (n.2253+59C>A)
c.3099+59C>A (n.3099+59C>A)
c.2619+59C>A (n.2619+59C>A)
12g.47977543C>TCA2575137246COL2A1c.2958+57G>A (n.2958+57G>A)
c.3165+57G>A (n.3165+57G>A)
n.2251+57G>A
c.3309+57G>A (n.3309+57G>A)
c.3306+57G>A (n.3306+57G>A)
c.2253+57G>A (n.2253+57G>A)
c.3099+57G>A (n.3099+57G>A)
c.2619+57G>A (n.2619+57G>A)
12g.47977545G>TCA2575137247COL2A1c.2958+55C>A (n.2958+55C>A)
c.3165+55C>A (n.3165+55C>A)
n.2251+55C>A
c.3309+55C>A (n.3309+55C>A)
c.3306+55C>A (n.3306+55C>A)
c.2253+55C>A (n.2253+55C>A)
c.3099+55C>A (n.3099+55C>A)
c.2619+55C>A (n.2619+55C>A)
 gnomAD v4
12g.47977546G>ACA2618512179COL2A1c.2958+54C>T (n.2958+54C>T)
c.3165+54C>T (n.3165+54C>T)
n.2251+54C>T
c.3309+54C>T (n.3309+54C>T)
c.3306+54C>T (n.3306+54C>T)
c.2253+54C>T (n.2253+54C>T)
c.3099+54C>T (n.3099+54C>T)
c.2619+54C>T (n.2619+54C>T)
 gnomAD v4
12g.47977546G>TCA2618512180COL2A1c.2958+54C>A (n.2958+54C>A)
c.3165+54C>A (n.3165+54C>A)
n.2251+54C>A
c.3309+54C>A (n.3309+54C>A)
c.3306+54C>A (n.3306+54C>A)
c.2253+54C>A (n.2253+54C>A)
c.3099+54C>A (n.3099+54C>A)
c.2619+54C>A (n.2619+54C>A)
 gnomAD v4
12g.47977547C=CA2034476461COL2A1c.2958+53G= (n.2958+53G=)
c.3165+53G= (n.3165+53G=)
n.2251+53G=
c.3309+53G= (n.3309+53G=)
c.3306+53G= (n.3306+53G=)
c.2253+53G= (n.2253+53G=)
c.3099+53G= (n.3099+53G=)
c.2619+53G= (n.2619+53G=)
12g.47977547C>TCA2034476462COL2A1c.2958+53G>A (n.2958+53G>A)
c.3165+53G>A (n.3165+53G>A)
n.2251+53G>A
c.3309+53G>A (n.3309+53G>A)
c.3306+53G>A (n.3306+53G>A)
c.2253+53G>A (n.2253+53G>A)
c.3099+53G>A (n.3099+53G>A)
c.2619+53G>A (n.2619+53G>A)
 dbSNP gnomAD v4
12g.47977549C=CA2034476463COL2A1c.2958+51G= (n.2958+51G=)
c.3165+51G= (n.3165+51G=)
n.2251+51G=
c.3309+51G= (n.3309+51G=)
c.3306+51G= (n.3306+51G=)
c.2253+51G= (n.2253+51G=)
c.3099+51G= (n.3099+51G=)
c.2619+51G= (n.2619+51G=)
12g.47977549C>TCA6534853COL2A1c.2958+51G>A (n.2958+51G>A)
c.3165+51G>A (n.3165+51G>A)
n.2251+51G>A
c.3309+51G>A (n.3309+51G>A)
c.3306+51G>A (n.3306+51G>A)
c.2253+51G>A (n.2253+51G>A)
c.3099+51G>A (n.3099+51G>A)
c.2619+51G>A (n.2619+51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977550G>ACA605231659COL2A1c.2958+50C>T (n.2958+50C>T)
c.3165+50C>T (n.3165+50C>T)
n.2251+50C>T
c.3309+50C>T (n.3309+50C>T)
c.3306+50C>T (n.3306+50C>T)
c.2253+50C>T (n.2253+50C>T)
c.3099+50C>T (n.3099+50C>T)
c.2619+50C>T (n.2619+50C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977550G=CA2034476464COL2A1c.2958+50C= (n.2958+50C=)
c.3165+50C= (n.3165+50C=)
n.2251+50C=
c.3309+50C= (n.3309+50C=)
c.3306+50C= (n.3306+50C=)
c.2253+50C= (n.2253+50C=)
c.3099+50C= (n.3099+50C=)
c.2619+50C= (n.2619+50C=)
12g.47977551A=CA2034476465COL2A1c.2958+49T= (n.2958+49T=)
c.3165+49T= (n.3165+49T=)
n.2251+49T=
c.3309+49T= (n.3309+49T=)
c.3306+49T= (n.3306+49T=)
c.2253+49T= (n.2253+49T=)
c.3099+49T= (n.3099+49T=)
c.2619+49T= (n.2619+49T=)
12g.47977551A>GCA6534854COL2A1c.2958+49T>C (n.2958+49T>C)
c.3165+49T>C (n.3165+49T>C)
n.2251+49T>C
c.3309+49T>C (n.3309+49T>C)
c.3306+49T>C (n.3306+49T>C)
c.2253+49T>C (n.2253+49T>C)
c.3099+49T>C (n.3099+49T>C)
c.2619+49T>C (n.2619+49T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977551_47977552delinsAGCA2034476466COL2A1c.2958+48_2958+49delinsCT (n.2958+48_2958+49delinsCT)
c.3165+48_3165+49delinsCT (n.3165+48_3165+49delinsCT)
n.2251+48_2251+49delinsCT
c.3309+48_3309+49delinsCT (n.3309+48_3309+49delinsCT)
c.3306+48_3306+49delinsCT (n.3306+48_3306+49delinsCT)
c.2253+48_2253+49delinsCT (n.2253+48_2253+49delinsCT)
c.3099+48_3099+49delinsCT (n.3099+48_3099+49delinsCT)
c.2619+48_2619+49delinsCT (n.2619+48_2619+49delinsCT)
12g.47977552G=CA2034476467COL2A1c.2958+48C= (n.2958+48C=)
c.3165+48C= (n.3165+48C=)
n.2251+48C=
c.3309+48C= (n.3309+48C=)
c.3306+48C= (n.3306+48C=)
c.2253+48C= (n.2253+48C=)
c.3099+48C= (n.3099+48C=)
c.2619+48C= (n.2619+48C=)
12g.47977552G>TCA605231661COL2A1c.2958+48C>A (n.2958+48C>A)
c.3165+48C>A (n.3165+48C>A)
n.2251+48C>A
c.3309+48C>A (n.3309+48C>A)
c.3306+48C>A (n.3306+48C>A)
c.2253+48C>A (n.2253+48C>A)
c.3099+48C>A (n.3099+48C>A)
c.2619+48C>A (n.2619+48C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47977553delCA605231660COL2A1c.2958+48del (n.2958+48del)
c.3165+48del (n.3165+48del)
n.2251+48del
c.3309+48del (n.3309+48del)
c.3306+48del (n.3306+48del)
c.2253+48del (n.2253+48del)
c.3099+48del (n.3099+48del)
c.2619+48del (n.2619+48del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977553G>ACA605231662COL2A1c.2958+47C>T (n.2958+47C>T)
c.3165+47C>T (n.3165+47C>T)
n.2251+47C>T
c.3309+47C>T (n.3309+47C>T)
c.3306+47C>T (n.3306+47C>T)
c.2253+47C>T (n.2253+47C>T)
c.3099+47C>T (n.3099+47C>T)
c.2619+47C>T (n.2619+47C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47977553G=CA2034476468COL2A1c.2958+47C= (n.2958+47C=)
c.3165+47C= (n.3165+47C=)
n.2251+47C=
c.3309+47C= (n.3309+47C=)
c.3306+47C= (n.3306+47C=)
c.2253+47C= (n.2253+47C=)
c.3099+47C= (n.3099+47C=)
c.2619+47C= (n.2619+47C=)
12g.47977553G>TCA2575137248COL2A1c.2958+47C>A (n.2958+47C>A)
c.3165+47C>A (n.3165+47C>A)
n.2251+47C>A
c.3309+47C>A (n.3309+47C>A)
c.3306+47C>A (n.3306+47C>A)
c.2253+47C>A (n.2253+47C>A)
c.3099+47C>A (n.3099+47C>A)
c.2619+47C>A (n.2619+47C>A)
12g.47977555A=CA2034476469COL2A1c.2958+45T= (n.2958+45T=)
c.3165+45T= (n.3165+45T=)
n.2251+45T=
c.3309+45T= (n.3309+45T=)
c.3306+45T= (n.3306+45T=)
c.2253+45T= (n.2253+45T=)
c.3099+45T= (n.3099+45T=)
c.2619+45T= (n.2619+45T=)
12g.47977555A>GCA947351789COL2A1c.2958+45T>C (n.2958+45T>C)
c.3165+45T>C (n.3165+45T>C)
n.2251+45T>C
c.3309+45T>C (n.3309+45T>C)
c.3306+45T>C (n.3306+45T>C)
c.2253+45T>C (n.2253+45T>C)
c.3099+45T>C (n.3099+45T>C)
c.2619+45T>C (n.2619+45T>C)
 dbSNP gnomAD v4
12g.47977557T>ACA2581084968COL2A1c.2958+43A>T (n.2958+43A>T)
c.3165+43A>T (n.3165+43A>T)
n.2251+43A>T
c.3309+43A>T (n.3309+43A>T)
c.3306+43A>T (n.3306+43A>T)
c.2253+43A>T (n.2253+43A>T)
c.3099+43A>T (n.3099+43A>T)
c.2619+43A>T (n.2619+43A>T)
12g.47977557T>CCA6534855COL2A1c.2958+43A>G (n.2958+43A>G)
c.3165+43A>G (n.3165+43A>G)
n.2251+43A>G
c.3309+43A>G (n.3309+43A>G)
c.3306+43A>G (n.3306+43A>G)
c.2253+43A>G (n.2253+43A>G)
c.3099+43A>G (n.3099+43A>G)
c.2619+43A>G (n.2619+43A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977557T>GCA2581084969COL2A1c.2958+43A>C (n.2958+43A>C)
c.3165+43A>C (n.3165+43A>C)
n.2251+43A>C
c.3309+43A>C (n.3309+43A>C)
c.3306+43A>C (n.3306+43A>C)
c.2253+43A>C (n.2253+43A>C)
c.3099+43A>C (n.3099+43A>C)
c.2619+43A>C (n.2619+43A>C)
12g.47977557T=CA2034476470COL2A1c.2958+43A= (n.2958+43A=)
c.3165+43A= (n.3165+43A=)
n.2251+43A=
c.3309+43A= (n.3309+43A=)
c.3306+43A= (n.3306+43A=)
c.2253+43A= (n.2253+43A=)
c.3099+43A= (n.3099+43A=)
c.2619+43A= (n.2619+43A=)
12g.47977558G>ACA689436814COL2A1c.2958+42C>T (n.2958+42C>T)
c.3165+42C>T (n.3165+42C>T)
n.2251+42C>T
c.3309+42C>T (n.3309+42C>T)
c.3306+42C>T (n.3306+42C>T)
c.2253+42C>T (n.2253+42C>T)
c.3099+42C>T (n.3099+42C>T)
c.2619+42C>T (n.2619+42C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47977558G>CCA2618512193COL2A1c.2958+42C>G (n.2958+42C>G)
c.3165+42C>G (n.3165+42C>G)
n.2251+42C>G
c.3309+42C>G (n.3309+42C>G)
c.3306+42C>G (n.3306+42C>G)
c.2253+42C>G (n.2253+42C>G)
c.3099+42C>G (n.3099+42C>G)
c.2619+42C>G (n.2619+42C>G)
 gnomAD v4
12g.47977558G=CA2034476471COL2A1c.2958+42C= (n.2958+42C=)
c.3165+42C= (n.3165+42C=)
n.2251+42C=
c.3309+42C= (n.3309+42C=)
c.3306+42C= (n.3306+42C=)
c.2253+42C= (n.2253+42C=)
c.3099+42C= (n.3099+42C=)
c.2619+42C= (n.2619+42C=)
12g.47977560C>ACA6534856COL2A1c.2958+40G>T (n.2958+40G>T)
c.3165+40G>T (n.3165+40G>T)
n.2251+40G>T
c.3309+40G>T (n.3309+40G>T)
c.3306+40G>T (n.3306+40G>T)
c.2253+40G>T (n.2253+40G>T)
c.3099+40G>T (n.3099+40G>T)
c.2619+40G>T (n.2619+40G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977560C=CA2034476472COL2A1c.2958+40G= (n.2958+40G=)
c.3165+40G= (n.3165+40G=)
n.2251+40G=
c.3309+40G= (n.3309+40G=)
c.3306+40G= (n.3306+40G=)
c.2253+40G= (n.2253+40G=)
c.3099+40G= (n.3099+40G=)
c.2619+40G= (n.2619+40G=)
12g.47977560C>TCA2618512233COL2A1c.2958+40G>A (n.2958+40G>A)
c.3165+40G>A (n.3165+40G>A)
n.2251+40G>A
c.3309+40G>A (n.3309+40G>A)
c.3306+40G>A (n.3306+40G>A)
c.2253+40G>A (n.2253+40G>A)
c.3099+40G>A (n.3099+40G>A)
c.2619+40G>A (n.2619+40G>A)
 gnomAD v4
12g.47977561C=CA2034476473COL2A1c.2958+39G= (n.2958+39G=)
c.3165+39G= (n.3165+39G=)
n.2251+39G=
c.3309+39G= (n.3309+39G=)
c.3306+39G= (n.3306+39G=)
c.2253+39G= (n.2253+39G=)
c.3099+39G= (n.3099+39G=)
c.2619+39G= (n.2619+39G=)
12g.47977561C>GCA6534857COL2A1c.2958+39G>C (n.2958+39G>C)
c.3165+39G>C (n.3165+39G>C)
n.2251+39G>C
c.3309+39G>C (n.3309+39G>C)
c.3306+39G>C (n.3306+39G>C)
c.2253+39G>C (n.2253+39G>C)
c.3099+39G>C (n.3099+39G>C)
c.2619+39G>C (n.2619+39G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977562T>ACA2618512239COL2A1c.2958+38A>T (n.2958+38A>T)
c.3165+38A>T (n.3165+38A>T)
n.2251+38A>T
c.3309+38A>T (n.3309+38A>T)
c.3306+38A>T (n.3306+38A>T)
c.2253+38A>T (n.2253+38A>T)
c.3099+38A>T (n.3099+38A>T)
c.2619+38A>T (n.2619+38A>T)
 gnomAD v4
12g.47977562_47977563delinsTCCA2034476474COL2A1c.2958+37_2958+38delinsGA (n.2958+37_2958+38delinsGA)
c.3165+37_3165+38delinsGA (n.3165+37_3165+38delinsGA)
n.2251+37_2251+38delinsGA
c.3309+37_3309+38delinsGA (n.3309+37_3309+38delinsGA)
c.3306+37_3306+38delinsGA (n.3306+37_3306+38delinsGA)
c.2253+37_2253+38delinsGA (n.2253+37_2253+38delinsGA)
c.3099+37_3099+38delinsGA (n.3099+37_3099+38delinsGA)
c.2619+37_2619+38delinsGA (n.2619+37_2619+38delinsGA)
12g.47977566delCA6534858COL2A1c.2958+37del (n.2958+37del)
c.3165+37del (n.3165+37del)
n.2251+37del
c.3309+37del (n.3309+37del)
c.3306+37del (n.3306+37del)
c.2253+37del (n.2253+37del)
c.3099+37del (n.3099+37del)
c.2619+37del (n.2619+37del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977564C>ACA605231663COL2A1c.2958+36G>T (n.2958+36G>T)
c.3165+36G>T (n.3165+36G>T)
n.2251+36G>T
c.3309+36G>T (n.3309+36G>T)
c.3306+36G>T (n.3306+36G>T)
c.2253+36G>T (n.2253+36G>T)
c.3099+36G>T (n.3099+36G>T)
c.2619+36G>T (n.2619+36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977564C=CA2034476475COL2A1c.2958+36G= (n.2958+36G=)
c.3165+36G= (n.3165+36G=)
n.2251+36G=
c.3309+36G= (n.3309+36G=)
c.3306+36G= (n.3306+36G=)
c.2253+36G= (n.2253+36G=)
c.3099+36G= (n.3099+36G=)
c.2619+36G= (n.2619+36G=)
12g.47977565C>ACA2575137257COL2A1c.2958+35G>T (n.2958+35G>T)
c.3165+35G>T (n.3165+35G>T)
n.2251+35G>T
c.3309+35G>T (n.3309+35G>T)
c.3306+35G>T (n.3306+35G>T)
c.2253+35G>T (n.2253+35G>T)
c.3099+35G>T (n.3099+35G>T)
c.2619+35G>T (n.2619+35G>T)
12g.47977565C=CA2034476476COL2A1c.2958+35G= (n.2958+35G=)
c.3165+35G= (n.3165+35G=)
n.2251+35G=
c.3309+35G= (n.3309+35G=)
c.3306+35G= (n.3306+35G=)
c.2253+35G= (n.2253+35G=)
c.3099+35G= (n.3099+35G=)
c.2619+35G= (n.2619+35G=)
12g.47977565C>GCA605231664COL2A1c.2958+35G>C (n.2958+35G>C)
c.3165+35G>C (n.3165+35G>C)
n.2251+35G>C
c.3309+35G>C (n.3309+35G>C)
c.3306+35G>C (n.3306+35G>C)
c.2253+35G>C (n.2253+35G>C)
c.3099+35G>C (n.3099+35G>C)
c.2619+35G>C (n.2619+35G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47977565C>TCA2034476477COL2A1c.2958+35G>A (n.2958+35G>A)
c.3165+35G>A (n.3165+35G>A)
n.2251+35G>A
c.3309+35G>A (n.3309+35G>A)
c.3306+35G>A (n.3306+35G>A)
c.2253+35G>A (n.2253+35G>A)
c.3099+35G>A (n.3099+35G>A)
c.2619+35G>A (n.2619+35G>A)
 dbSNP
12g.47977566C>ACA2795864175COL2A1c.2958+34G>T (n.2958+34G>T)
c.3165+34G>T (n.3165+34G>T)
n.2251+34G>T
c.3309+34G>T (n.3309+34G>T)
c.3306+34G>T (n.3306+34G>T)
c.2253+34G>T (n.2253+34G>T)
c.3099+34G>T (n.3099+34G>T)
c.2619+34G>T (n.2619+34G>T)
12g.47977567A=CA2034476478COL2A1c.2958+33T= (n.2958+33T=)
c.3165+33T= (n.3165+33T=)
n.2251+33T=
c.3309+33T= (n.3309+33T=)
c.3306+33T= (n.3306+33T=)
c.2253+33T= (n.2253+33T=)
c.3099+33T= (n.3099+33T=)
c.2619+33T= (n.2619+33T=)
12g.47977567A>GCA236521135COL2A1c.2958+33T>C (n.2958+33T>C)
c.3165+33T>C (n.3165+33T>C)
n.2251+33T>C
c.3309+33T>C (n.3309+33T>C)
c.3306+33T>C (n.3306+33T>C)
c.2253+33T>C (n.2253+33T>C)
c.3099+33T>C (n.3099+33T>C)
c.2619+33T>C (n.2619+33T>C)
 dbSNP gnomAD v4
12g.47977568A=CA2034476479COL2A1c.2958+32T= (n.2958+32T=)
c.3165+32T= (n.3165+32T=)
n.2251+32T=
c.3309+32T= (n.3309+32T=)
c.3306+32T= (n.3306+32T=)
c.2253+32T= (n.2253+32T=)
c.3099+32T= (n.3099+32T=)
c.2619+32T= (n.2619+32T=)
12g.47977568A>CCA2618512249COL2A1c.2958+32T>G (n.2958+32T>G)
c.3165+32T>G (n.3165+32T>G)
n.2251+32T>G
c.3309+32T>G (n.3309+32T>G)
c.3306+32T>G (n.3306+32T>G)
c.2253+32T>G (n.2253+32T>G)
c.3099+32T>G (n.3099+32T>G)
c.2619+32T>G (n.2619+32T>G)
 gnomAD v4
12g.47977568A>GCA6534859COL2A1c.2958+32T>C (n.2958+32T>C)
c.3165+32T>C (n.3165+32T>C)
n.2251+32T>C
c.3309+32T>C (n.3309+32T>C)
c.3306+32T>C (n.3306+32T>C)
c.2253+32T>C (n.2253+32T>C)
c.3099+32T>C (n.3099+32T>C)
c.2619+32T>C (n.2619+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977569C=CA2034476480COL2A1c.2958+31G= (n.2958+31G=)
c.3165+31G= (n.3165+31G=)
n.2251+31G=
c.3309+31G= (n.3309+31G=)
c.3306+31G= (n.3306+31G=)
c.2253+31G= (n.2253+31G=)
c.3099+31G= (n.3099+31G=)
c.2619+31G= (n.2619+31G=)
12g.47977569C>TCA2034476481COL2A1c.2958+31G>A (n.2958+31G>A)
c.3165+31G>A (n.3165+31G>A)
n.2251+31G>A
c.3309+31G>A (n.3309+31G>A)
c.3306+31G>A (n.3306+31G>A)
c.2253+31G>A (n.2253+31G>A)
c.3099+31G>A (n.3099+31G>A)
c.2619+31G>A (n.2619+31G>A)
 dbSNP
12g.47977571C>TCA2575137259COL2A1c.2958+29G>A (n.2958+29G>A)
c.3165+29G>A (n.3165+29G>A)
n.2251+29G>A
c.3309+29G>A (n.3309+29G>A)
c.3306+29G>A (n.3306+29G>A)
c.2253+29G>A (n.2253+29G>A)
c.3099+29G>A (n.3099+29G>A)
c.2619+29G>A (n.2619+29G>A)
 gnomAD v4
12g.47977572A>CCA2618512254COL2A1c.2958+28T>G (n.2958+28T>G)
c.3165+28T>G (n.3165+28T>G)
n.2251+28T>G
c.3309+28T>G (n.3309+28T>G)
c.3306+28T>G (n.3306+28T>G)
c.2253+28T>G (n.2253+28T>G)
c.3099+28T>G (n.3099+28T>G)
c.2619+28T>G (n.2619+28T>G)
 gnomAD v4
12g.47977572A>GCA2618512252COL2A1c.2958+28T>C (n.2958+28T>C)
c.3165+28T>C (n.3165+28T>C)
n.2251+28T>C
c.3309+28T>C (n.3309+28T>C)
c.3306+28T>C (n.3306+28T>C)
c.2253+28T>C (n.2253+28T>C)
c.3099+28T>C (n.3099+28T>C)
c.2619+28T>C (n.2619+28T>C)
 gnomAD v4
12g.47977573C=CA2034476482COL2A1c.2958+27G= (n.2958+27G=)
c.3165+27G= (n.3165+27G=)
n.2251+27G=
c.3309+27G= (n.3309+27G=)
c.3306+27G= (n.3306+27G=)
c.2253+27G= (n.2253+27G=)
c.3099+27G= (n.3099+27G=)
c.2619+27G= (n.2619+27G=)
12g.47977573C>TCA6534860COL2A1c.2958+27G>A (n.2958+27G>A)
c.3165+27G>A (n.3165+27G>A)
n.2251+27G>A
c.3309+27G>A (n.3309+27G>A)
c.3306+27G>A (n.3306+27G>A)
c.2253+27G>A (n.2253+27G>A)
c.3099+27G>A (n.3099+27G>A)
c.2619+27G>A (n.2619+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977574T>GCA2575137260COL2A1c.2958+26A>C (n.2958+26A>C)
c.3165+26A>C (n.3165+26A>C)
n.2251+26A>C
c.3309+26A>C (n.3309+26A>C)
c.3306+26A>C (n.3306+26A>C)
c.2253+26A>C (n.2253+26A>C)
c.3099+26A>C (n.3099+26A>C)
c.2619+26A>C (n.2619+26A>C)
12g.47977575G>TCA2726225560COL2A1c.2958+25C>A (n.2958+25C>A)
c.3165+25C>A (n.3165+25C>A)
n.2251+25C>A
c.3309+25C>A (n.3309+25C>A)
c.3306+25C>A (n.3306+25C>A)
c.2253+25C>A (n.2253+25C>A)
c.3099+25C>A (n.3099+25C>A)
c.2619+25C>A (n.2619+25C>A)
 dbSNP
12g.47977576C=CA2034476483COL2A1c.2958+24G= (n.2958+24G=)
c.3165+24G= (n.3165+24G=)
n.2251+24G=
c.3309+24G= (n.3309+24G=)
c.3306+24G= (n.3306+24G=)
c.2253+24G= (n.2253+24G=)
c.3099+24G= (n.3099+24G=)
c.2619+24G= (n.2619+24G=)
12g.47977576C>TCA6534861COL2A1c.2958+24G>A (n.2958+24G>A)
c.3165+24G>A (n.3165+24G>A)
n.2251+24G>A
c.3309+24G>A (n.3309+24G>A)
c.3306+24G>A (n.3306+24G>A)
c.2253+24G>A (n.2253+24G>A)
c.3099+24G>A (n.3099+24G>A)
c.2619+24G>A (n.2619+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977577delCA2618512261COL2A1c.2958+23del (n.2958+23del)
c.3165+23del (n.3165+23del)
n.2251+23del
c.3309+23del (n.3309+23del)
c.3306+23del (n.3306+23del)
c.2253+23del (n.2253+23del)
c.3099+23del (n.3099+23del)
c.2619+23del (n.2619+23del)
 gnomAD v4
12g.47977577A=CA2034476484COL2A1c.2958+23T= (n.2958+23T=)
c.3165+23T= (n.3165+23T=)
n.2251+23T=
c.3309+23T= (n.3309+23T=)
c.3306+23T= (n.3306+23T=)
c.2253+23T= (n.2253+23T=)
c.3099+23T= (n.3099+23T=)
c.2619+23T= (n.2619+23T=)
12g.47977577A>TCA605231665COL2A1c.2958+23T>A (n.2958+23T>A)
c.3165+23T>A (n.3165+23T>A)
n.2251+23T>A
c.3309+23T>A (n.3309+23T>A)
c.3306+23T>A (n.3306+23T>A)
c.2253+23T>A (n.2253+23T>A)
c.3099+23T>A (n.3099+23T>A)
c.2619+23T>A (n.2619+23T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977579A=CA2034476485COL2A1c.2958+21T= (n.2958+21T=)
c.3165+21T= (n.3165+21T=)
n.2251+21T=
c.3309+21T= (n.3309+21T=)
c.3306+21T= (n.3306+21T=)
c.2253+21T= (n.2253+21T=)
c.3099+21T= (n.3099+21T=)
c.2619+21T= (n.2619+21T=)
12g.47977579A>CCA6534862COL2A1c.2958+21T>G (n.2958+21T>G)
c.3165+21T>G (n.3165+21T>G)
n.2251+21T>G
c.3309+21T>G (n.3309+21T>G)
c.3306+21T>G (n.3306+21T>G)
c.2253+21T>G (n.2253+21T>G)
c.3099+21T>G (n.3099+21T>G)
c.2619+21T>G (n.2619+21T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977579A>GCA2795864181COL2A1c.2958+21T>C (n.2958+21T>C)
c.3165+21T>C (n.3165+21T>C)
n.2251+21T>C
c.3309+21T>C (n.3309+21T>C)
c.3306+21T>C (n.3306+21T>C)
c.2253+21T>C (n.2253+21T>C)
c.3099+21T>C (n.3099+21T>C)
c.2619+21T>C (n.2619+21T>C)
12g.47977580C>ACA236521150COL2A1c.2958+20G>T (n.2958+20G>T)
c.3165+20G>T (n.3165+20G>T)
n.2251+20G>T
c.3309+20G>T (n.3309+20G>T)
c.3306+20G>T (n.3306+20G>T)
c.2253+20G>T (n.2253+20G>T)
c.3099+20G>T (n.3099+20G>T)
c.2619+20G>T (n.2619+20G>T)
 ClinVar dbSNP gnomAD v4
12g.47977580C=CA2034476486COL2A1c.2958+20G= (n.2958+20G=)
c.3165+20G= (n.3165+20G=)
n.2251+20G=
c.3309+20G= (n.3309+20G=)
c.3306+20G= (n.3306+20G=)
c.2253+20G= (n.2253+20G=)
c.3099+20G= (n.3099+20G=)
c.2619+20G= (n.2619+20G=)
12g.47977583A=CA2034476487COL2A1c.2958+17T= (n.2958+17T=)
c.3165+17T= (n.3165+17T=)
n.2251+17T=
c.3309+17T= (n.3309+17T=)
c.3306+17T= (n.3306+17T=)
c.2253+17T= (n.2253+17T=)
c.3099+17T= (n.3099+17T=)
c.2619+17T= (n.2619+17T=)
12g.47977583A>GCA605231666COL2A1c.2958+17T>C (n.2958+17T>C)
c.3165+17T>C (n.3165+17T>C)
n.2251+17T>C
c.3309+17T>C (n.3309+17T>C)
c.3306+17T>C (n.3306+17T>C)
c.2253+17T>C (n.2253+17T>C)
c.3099+17T>C (n.3099+17T>C)
c.2619+17T>C (n.2619+17T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977584G>CCA2034476489COL2A1c.2958+16C>G (n.2958+16C>G)
c.3165+16C>G (n.3165+16C>G)
n.2251+16C>G
c.3309+16C>G (n.3309+16C>G)
c.3306+16C>G (n.3306+16C>G)
c.2253+16C>G (n.2253+16C>G)
c.3099+16C>G (n.3099+16C>G)
c.2619+16C>G (n.2619+16C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47977584G=CA2034476488COL2A1c.2958+16C= (n.2958+16C=)
c.3165+16C= (n.3165+16C=)
n.2251+16C=
c.3309+16C= (n.3309+16C=)
c.3306+16C= (n.3306+16C=)
c.2253+16C= (n.2253+16C=)
c.3099+16C= (n.3099+16C=)
c.2619+16C= (n.2619+16C=)
12g.47977585A=CA2034476490COL2A1c.2958+15T= (n.2958+15T=)
c.3165+15T= (n.3165+15T=)
n.2251+15T=
c.3309+15T= (n.3309+15T=)
c.3306+15T= (n.3306+15T=)
c.2253+15T= (n.2253+15T=)
c.3099+15T= (n.3099+15T=)
c.2619+15T= (n.2619+15T=)
12g.47977585A>GCA605231667COL2A1c.2958+15T>C (n.2958+15T>C)
c.3165+15T>C (n.3165+15T>C)
n.2251+15T>C
c.3309+15T>C (n.3309+15T>C)
c.3306+15T>C (n.3306+15T>C)
c.2253+15T>C (n.2253+15T>C)
c.3099+15T>C (n.3099+15T>C)
c.2619+15T>C (n.2619+15T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47977586C=CA2034476491COL2A1c.2958+14G= (n.2958+14G=)
c.3165+14G= (n.3165+14G=)
n.2251+14G=
c.3309+14G= (n.3309+14G=)
c.3306+14G= (n.3306+14G=)
c.2253+14G= (n.2253+14G=)
c.3099+14G= (n.3099+14G=)
c.2619+14G= (n.2619+14G=)
12g.47977586C>TCA6534863COL2A1c.2958+14G>A (n.2958+14G>A)
c.3165+14G>A (n.3165+14G>A)
n.2251+14G>A
c.3309+14G>A (n.3309+14G>A)
c.3306+14G>A (n.3306+14G>A)
c.2253+14G>A (n.2253+14G>A)
c.3099+14G>A (n.3099+14G>A)
c.2619+14G>A (n.2619+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977587A=CA2034476492COL2A1c.2958+13T= (n.2958+13T=)
c.3165+13T= (n.3165+13T=)
n.2251+13T=
c.3309+13T= (n.3309+13T=)
c.3306+13T= (n.3306+13T=)
c.2253+13T= (n.2253+13T=)
c.3099+13T= (n.3099+13T=)
c.2619+13T= (n.2619+13T=)
12g.47977587A>GCA605231668COL2A1c.2958+13T>C (n.2958+13T>C)
c.3165+13T>C (n.3165+13T>C)
n.2251+13T>C
c.3309+13T>C (n.3309+13T>C)
c.3306+13T>C (n.3306+13T>C)
c.2253+13T>C (n.2253+13T>C)
c.3099+13T>C (n.3099+13T>C)
c.2619+13T>C (n.2619+13T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47977587A>TCA2618512274COL2A1c.2958+13T>A (n.2958+13T>A)
c.3165+13T>A (n.3165+13T>A)
n.2251+13T>A
c.3309+13T>A (n.3309+13T>A)
c.3306+13T>A (n.3306+13T>A)
c.2253+13T>A (n.2253+13T>A)
c.3099+13T>A (n.3099+13T>A)
c.2619+13T>A (n.2619+13T>A)
 ClinVar gnomAD v4
12g.47977588C>TCA2618512275COL2A1c.2958+12G>A (n.2958+12G>A)
c.3165+12G>A (n.3165+12G>A)
n.2251+12G>A
c.3309+12G>A (n.3309+12G>A)
c.3306+12G>A (n.3306+12G>A)
c.2253+12G>A (n.2253+12G>A)
c.3099+12G>A (n.3099+12G>A)
c.2619+12G>A (n.2619+12G>A)
 gnomAD v4
12g.47977591G>ACA2618512276COL2A1c.2958+9C>T (n.2958+9C>T)
c.3165+9C>T (n.3165+9C>T)
n.2251+9C>T
c.3309+9C>T (n.3309+9C>T)
c.3306+9C>T (n.3306+9C>T)
c.2253+9C>T (n.2253+9C>T)
c.3099+9C>T (n.3099+9C>T)
c.2619+9C>T (n.2619+9C>T)
 gnomAD v4
12g.47977592_47977596delinsACACTCA2034476493COL2A1c.2958+4_2958+8delinsAGTGT (n.2958+4_2958+8delinsAGTGT)
c.3165+4_3165+8delinsAGTGT (n.3165+4_3165+8delinsAGTGT)
n.2251+4_2251+8delinsAGTGT
c.3309+4_3309+8delinsAGTGT (n.3309+4_3309+8delinsAGTGT)
c.3306+4_3306+8delinsAGTGT (n.3306+4_3306+8delinsAGTGT)
c.2253+4_2253+8delinsAGTGT (n.2253+4_2253+8delinsAGTGT)
c.3099+4_3099+8delinsAGTGT (n.3099+4_3099+8delinsAGTGT)
c.2619+4_2619+8delinsAGTGT (n.2619+4_2619+8delinsAGTGT)
12g.47977596_47977599delCA6534864COL2A1c.2958+4_2958+7del (n.2958+4_2958+7del)
c.3165+4_3165+7del (n.3165+4_3165+7del)
n.2251+4_2251+7del
c.3309+4_3309+7del (n.3309+4_3309+7del)
c.3306+4_3306+7del (n.3306+4_3306+7del)
c.2253+4_2253+7del (n.2253+4_2253+7del)
c.3099+4_3099+7del (n.3099+4_3099+7del)
c.2619+4_2619+7del (n.2619+4_2619+7del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977594A>CCA479454158COL2A1c.2958+6T>G (n.2958+6T>G)
c.3165+6T>G (n.3165+6T>G)
n.2251+6T>G
c.3309+6T>G (n.3309+6T>G)
c.3306+6T>G (n.3306+6T>G)
c.2253+6T>G (n.2253+6T>G)
c.3099+6T>G (n.3099+6T>G)
c.2619+6T>G (n.2619+6T>G)
12g.47977595C=CA2034476494COL2A1c.2958+5G= (n.2958+5G=)
c.3165+5G= (n.3165+5G=)
n.2251+5G=
c.3309+5G= (n.3309+5G=)
c.3306+5G= (n.3306+5G=)
c.2253+5G= (n.2253+5G=)
c.3099+5G= (n.3099+5G=)
c.2619+5G= (n.2619+5G=)
12g.47977595C>TCA2034476495COL2A1c.2958+5G>A (n.2958+5G>A)
c.3165+5G>A (n.3165+5G>A)
n.2251+5G>A
c.3309+5G>A (n.3309+5G>A)
c.3306+5G>A (n.3306+5G>A)
c.2253+5G>A (n.2253+5G>A)
c.3099+5G>A (n.3099+5G>A)
c.2619+5G>A (n.2619+5G>A)
 dbSNP
12g.47977596T>CCA479454160COL2A1c.2958+4A>G (n.2958+4A>G)
c.3165+4A>G (n.3165+4A>G)
n.2251+4A>G
c.3309+4A>G (n.3309+4A>G)
c.3306+4A>G (n.3306+4A>G)
c.2253+4A>G (n.2253+4A>G)
c.3099+4A>G (n.3099+4A>G)
c.2619+4A>G (n.2619+4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47977596T=CA2034476496COL2A1c.2958+4A= (n.2958+4A=)
c.3165+4A= (n.3165+4A=)
n.2251+4A=
c.3309+4A= (n.3309+4A=)
c.3306+4A= (n.3306+4A=)
c.2253+4A= (n.2253+4A=)
c.3099+4A= (n.3099+4A=)
c.2619+4A= (n.2619+4A=)
12g.47977597C>TCA2580085498COL2A1c.2958+3G>A (n.2958+3G>A)
c.3165+3G>A (n.3165+3G>A)
n.2251+3G>A
c.3309+3G>A (n.3309+3G>A)
c.3306+3G>A (n.3306+3G>A)
c.2253+3G>A (n.2253+3G>A)
c.3099+3G>A (n.3099+3G>A)
c.2619+3G>A (n.2619+3G>A)
 ClinVar
12g.47977598A>CCA384540488COL2A1c.2958+2T>G (n.2958+2T>G)
c.3165+2T>G (n.3165+2T>G)
n.2251+2T>G
c.3309+2T>G (n.3309+2T>G)
c.3306+2T>G (n.3306+2T>G)
c.2253+2T>G (n.2253+2T>G)
c.3099+2T>G (n.3099+2T>G)
c.2619+2T>G (n.2619+2T>G)
12g.47977598A>GCA384540489COL2A1c.2958+2T>C (n.2958+2T>C)
c.3165+2T>C (n.3165+2T>C)
n.2251+2T>C
c.3309+2T>C (n.3309+2T>C)
c.3306+2T>C (n.3306+2T>C)
c.2253+2T>C (n.2253+2T>C)
c.3099+2T>C (n.3099+2T>C)
c.2619+2T>C (n.2619+2T>C)
12g.47977598A>TCA384540490COL2A1c.2958+2T>A (n.2958+2T>A)
c.3165+2T>A (n.3165+2T>A)
n.2251+2T>A
c.3309+2T>A (n.3309+2T>A)
c.3306+2T>A (n.3306+2T>A)
c.2253+2T>A (n.2253+2T>A)
c.3099+2T>A (n.3099+2T>A)
c.2619+2T>A (n.2619+2T>A)
12g.47977599C>ACA384540491COL2A1c.2958+1G>T (n.2958+1G>T)
c.3165+1G>T (n.3165+1G>T)
n.2251+1G>T
c.3309+1G>T (n.3309+1G>T)
c.3306+1G>T (n.3306+1G>T)
c.2253+1G>T (n.2253+1G>T)
c.3099+1G>T (n.3099+1G>T)
c.2619+1G>T (n.2619+1G>T)
 ClinVar dbSNP
12g.47977599C=CA2034476497COL2A1c.2958+1G= (n.2958+1G=)
c.3165+1G= (n.3165+1G=)
n.2251+1G=
c.3309+1G= (n.3309+1G=)
c.3306+1G= (n.3306+1G=)
c.2253+1G= (n.2253+1G=)
c.3099+1G= (n.3099+1G=)
c.2619+1G= (n.2619+1G=)
12g.47977599C>GCA384540492COL2A1c.2958+1G>C (n.2958+1G>C)
c.3165+1G>C (n.3165+1G>C)
n.2251+1G>C
c.3309+1G>C (n.3309+1G>C)
c.3306+1G>C (n.3306+1G>C)
c.2253+1G>C (n.2253+1G>C)
c.3099+1G>C (n.3099+1G>C)
c.2619+1G>C (n.2619+1G>C)
12g.47977599C>TCA6534865COL2A1c.2958+1G>A (n.2958+1G>A)
c.3165+1G>A (n.3165+1G>A)
n.2251+1G>A
c.3309+1G>A (n.3309+1G>A)
c.3306+1G>A (n.3306+1G>A)
c.2253+1G>A (n.2253+1G>A)
c.3099+1G>A (n.3099+1G>A)
c.2619+1G>A (n.2619+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977600C>ACA384540494COL2A1c.2958G>T (p.Lys986Asn)
c.3165G>T (p.Lys1055Asn)
n.2251G>T
c.3309G>T (p.Lys1103Asn)
c.3306G>T (p.Lys1102Asn)
c.2253G>T (p.Lys751Asn)
c.3099G>T (p.Lys1033Asn)
c.2619G>T (p.Lys873Asn)
12g.47977600C>GCA384540493COL2A1c.2958G>C (p.Lys986Asn)
c.3165G>C (p.Lys1055Asn)
n.2251G>C
c.3309G>C (p.Lys1103Asn)
c.3306G>C (p.Lys1102Asn)
c.2253G>C (p.Lys751Asn)
c.3099G>C (p.Lys1033Asn)
c.2619G>C (p.Lys873Asn)
12g.47977600C>TCA479454174COL2A1c.2958G>A (p.Lys986=)
c.3165G>A (p.Lys1055=)
n.2251G>A
c.3309G>A (p.Lys1103=)
c.3306G>A (p.Lys1102=)
c.2253G>A (p.Lys751=)
c.3099G>A (p.Lys1033=)
c.2619G>A (p.Lys873=)
12g.47977601T>ACA384540495COL2A1c.2957A>T (p.Lys986Met)
c.3164A>T (p.Lys1055Met)
n.2250A>T
c.3308A>T (p.Lys1103Met)
c.3305A>T (p.Lys1102Met)
c.2252A>T (p.Lys751Met)
c.3098A>T (p.Lys1033Met)
c.2618A>T (p.Lys873Met)
12g.47977601T>CCA384540496COL2A1c.2957A>G (p.Lys986Arg)
c.3164A>G (p.Lys1055Arg)
n.2250A>G
c.3308A>G (p.Lys1103Arg)
c.3305A>G (p.Lys1102Arg)
c.2252A>G (p.Lys751Arg)
c.3098A>G (p.Lys1033Arg)
c.2618A>G (p.Lys873Arg)
12g.47977601T>GCA384540497COL2A1c.2957A>C (p.Lys986Thr)
c.3164A>C (p.Lys1055Thr)
n.2250A>C
c.3308A>C (p.Lys1103Thr)
c.3305A>C (p.Lys1102Thr)
c.2252A>C (p.Lys751Thr)
c.3098A>C (p.Lys1033Thr)
c.2618A>C (p.Lys873Thr)
12g.47977602T>ACA384540498COL2A1c.2956A>T (p.Lys986Ter)
c.3163A>T (p.Lys1055Ter)
n.2249A>T
c.3307A>T (p.Lys1103Ter)
c.3304A>T (p.Lys1102Ter)
c.2251A>T (p.Lys751Ter)
c.3097A>T (p.Lys1033Ter)
c.2617A>T (p.Lys873Ter)
12g.47977602T>CCA384540499COL2A1c.2956A>G (p.Lys986Glu)
c.3163A>G (p.Lys1055Glu)
n.2249A>G
c.3307A>G (p.Lys1103Glu)
c.3304A>G (p.Lys1102Glu)
c.2251A>G (p.Lys751Glu)
c.3097A>G (p.Lys1033Glu)
c.2617A>G (p.Lys873Glu)
12g.47977602T>GCA384540500COL2A1c.2956A>C (p.Lys986Gln)
c.3163A>C (p.Lys1055Gln)
n.2249A>C
c.3307A>C (p.Lys1103Gln)
c.3304A>C (p.Lys1102Gln)
c.2251A>C (p.Lys751Gln)
c.3097A>C (p.Lys1033Gln)
c.2617A>C (p.Lys873Gln)
 gnomAD v4
12g.47977603G>ACA479454185COL2A1c.2955C>T (p.Val985=)
c.3162C>T (p.Val1054=)
n.2248C>T
c.3306C>T (p.Val1102=)
c.3303C>T (p.Val1101=)
c.2250C>T (p.Val750=)
c.3096C>T (p.Val1032=)
c.2616C>T (p.Val872=)
12g.47977603G>CCA479454184COL2A1c.2955C>G (p.Val985=)
c.3162C>G (p.Val1054=)
n.2248C>G
c.3306C>G (p.Val1102=)
c.3303C>G (p.Val1101=)
c.2250C>G (p.Val750=)
c.3096C>G (p.Val1032=)
c.2616C>G (p.Val872=)
12g.47977603G>TCA479454182COL2A1c.2955C>A (p.Val985=)
c.3162C>A (p.Val1054=)
n.2248C>A
c.3306C>A (p.Val1102=)
c.3303C>A (p.Val1101=)
c.2250C>A (p.Val750=)
c.3096C>A (p.Val1032=)
c.2616C>A (p.Val872=)
12g.47977604A>CCA384540501COL2A1c.2954T>G (p.Val985Gly)
c.3161T>G (p.Val1054Gly)
n.2247T>G
c.3305T>G (p.Val1102Gly)
c.3302T>G (p.Val1101Gly)
c.2249T>G (p.Val750Gly)
c.3095T>G (p.Val1032Gly)
c.2615T>G (p.Val872Gly)
12g.47977604A>GCA384540502COL2A1c.2954T>C (p.Val985Ala)
c.3161T>C (p.Val1054Ala)
n.2247T>C
c.3305T>C (p.Val1102Ala)
c.3302T>C (p.Val1101Ala)
c.2249T>C (p.Val750Ala)
c.3095T>C (p.Val1032Ala)
c.2615T>C (p.Val872Ala)
12g.47977604A>TCA384540503COL2A1c.2954T>A (p.Val985Asp)
c.3161T>A (p.Val1054Asp)
n.2247T>A
c.3305T>A (p.Val1102Asp)
c.3302T>A (p.Val1101Asp)
c.2249T>A (p.Val750Asp)
c.3095T>A (p.Val1032Asp)
c.2615T>A (p.Val872Asp)
12g.47977605C>ACA384540504COL2A1c.2953G>T (p.Val985Phe)
c.3160G>T (p.Val1054Phe)
n.2246G>T
c.3304G>T (p.Val1102Phe)
c.3301G>T (p.Val1101Phe)
c.2248G>T (p.Val750Phe)
c.3094G>T (p.Val1032Phe)
c.2614G>T (p.Val872Phe)
12g.47977605C=CA2034476498COL2A1c.2953G= (p.Val985=)
c.3160G= (p.Val1054=)
n.2246G=
c.3304G= (p.Val1102=)
c.3301G= (p.Val1101=)
c.2248G= (p.Val750=)
c.3094G= (p.Val1032=)
c.2614G= (p.Val872=)
12g.47977605C>GCA384540505COL2A1c.2953G>C (p.Val985Leu)
c.3160G>C (p.Val1054Leu)
n.2246G>C
c.3304G>C (p.Val1102Leu)
c.3301G>C (p.Val1101Leu)
c.2248G>C (p.Val750Leu)
c.3094G>C (p.Val1032Leu)
c.2614G>C (p.Val872Leu)
 gnomAD v4
12g.47977605C>TCA236521162COL2A1c.2953G>A (p.Val985Ile)
c.3160G>A (p.Val1054Ile)
n.2246G>A
c.3304G>A (p.Val1102Ile)
c.3301G>A (p.Val1101Ile)
c.2248G>A (p.Val750Ile)
c.3094G>A (p.Val1032Ile)
c.2614G>A (p.Val872Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977606T>ACA479454199COL2A1c.2952A>T (p.Gly984=)
c.3159A>T (p.Gly1053=)
n.2245A>T
c.3303A>T (p.Gly1101=)
c.3300A>T (p.Gly1100=)
c.2247A>T (p.Gly749=)
c.3093A>T (p.Gly1031=)
c.2613A>T (p.Gly871=)
12g.47977606T>CCA6534866COL2A1c.2952A>G (p.Gly984=)
c.3159A>G (p.Gly1053=)
n.2245A>G
c.3303A>G (p.Gly1101=)
c.3300A>G (p.Gly1100=)
c.2247A>G (p.Gly749=)
c.3093A>G (p.Gly1031=)
c.2613A>G (p.Gly871=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977606T>GCA479454201COL2A1c.2952A>C (p.Gly984=)
c.3159A>C (p.Gly1053=)
n.2245A>C
c.3303A>C (p.Gly1101=)
c.3300A>C (p.Gly1100=)
c.2247A>C (p.Gly749=)
c.3093A>C (p.Gly1031=)
c.2613A>C (p.Gly871=)
12g.47977606T=CA2034476499COL2A1c.2952A= (p.Gly984=)
c.3159A= (p.Gly1053=)
n.2245A=
c.3303A= (p.Gly1101=)
c.3300A= (p.Gly1100=)
c.2247A= (p.Gly749=)
c.3093A= (p.Gly1031=)
c.2613A= (p.Gly871=)
12g.47977607C>ACA384540506COL2A1c.2951G>T (p.Gly984Val)
c.3158G>T (p.Gly1053Val)
n.2244G>T
c.3302G>T (p.Gly1101Val)
c.3299G>T (p.Gly1100Val)
c.2246G>T (p.Gly749Val)
c.3092G>T (p.Gly1031Val)
c.2612G>T (p.Gly871Val)
12g.47977607C=CA2034476500COL2A1c.2951G= (p.Gly984=)
c.3158G= (p.Gly1053=)
n.2244G=
c.3302G= (p.Gly1101=)
c.3299G= (p.Gly1100=)
c.2246G= (p.Gly749=)
c.3092G= (p.Gly1031=)
c.2612G= (p.Gly871=)
12g.47977607C>GCA384540507COL2A1c.2951G>C (p.Gly984Ala)
c.3158G>C (p.Gly1053Ala)
n.2244G>C
c.3302G>C (p.Gly1101Ala)
c.3299G>C (p.Gly1100Ala)
c.2246G>C (p.Gly749Ala)
c.3092G>C (p.Gly1031Ala)
c.2612G>C (p.Gly871Ala)
12g.47977607C>TCA250668COL2A1c.2951G>A (p.Gly984Glu)
c.3158G>A (p.Gly1053Glu)
n.2244G>A
c.3302G>A (p.Gly1101Glu)
c.3299G>A (p.Gly1100Glu)
c.2246G>A (p.Gly749Glu)
c.3092G>A (p.Gly1031Glu)
c.2612G>A (p.Gly871Glu)
 ClinVar dbSNP
12g.47977608C>ACA384540510COL2A1c.2950G>T (p.Gly984Ter)
c.3157G>T (p.Gly1053Ter)
n.2243G>T
c.3301G>T (p.Gly1101Ter)
c.3298G>T (p.Gly1100Ter)
c.2245G>T (p.Gly749Ter)
c.3091G>T (p.Gly1031Ter)
c.2611G>T (p.Gly871Ter)
12g.47977608C=CA2034476501COL2A1c.2950G= (p.Gly984=)
c.3157G= (p.Gly1053=)
n.2243G=
c.3301G= (p.Gly1101=)
c.3298G= (p.Gly1100=)
c.2245G= (p.Gly749=)
c.3091G= (p.Gly1031=)
c.2611G= (p.Gly871=)
12g.47977608C>GCA384540508COL2A1c.2950G>C (p.Gly984Arg)
c.3157G>C (p.Gly1053Arg)
n.2243G>C
c.3301G>C (p.Gly1101Arg)
c.3298G>C (p.Gly1100Arg)
c.2245G>C (p.Gly749Arg)
c.3091G>C (p.Gly1031Arg)
c.2611G>C (p.Gly871Arg)
12g.47977608C>TCA384540509COL2A1c.2950G>A (p.Gly984Arg)
c.3157G>A (p.Gly1053Arg)
n.2243G>A
c.3301G>A (p.Gly1101Arg)
c.3298G>A (p.Gly1100Arg)
c.2245G>A (p.Gly749Arg)
c.3091G>A (p.Gly1031Arg)
c.2611G>A (p.Gly871Arg)
 ClinVar dbSNP
12g.47977609A>CCA479454216COL2A1c.2949T>G (p.Ala983=)
c.3156T>G (p.Ala1052=)
n.2242T>G
c.3300T>G (p.Ala1100=)
c.3297T>G (p.Ala1099=)
c.2244T>G (p.Ala748=)
c.3090T>G (p.Ala1030=)
c.2610T>G (p.Ala870=)
12g.47977609A>GCA479454217COL2A1c.2949T>C (p.Ala983=)
c.3156T>C (p.Ala1052=)
n.2242T>C
c.3300T>C (p.Ala1100=)
c.3297T>C (p.Ala1099=)
c.2244T>C (p.Ala748=)
c.3090T>C (p.Ala1030=)
c.2610T>C (p.Ala870=)
12g.47977609A>TCA479454218COL2A1c.2949T>A (p.Ala983=)
c.3156T>A (p.Ala1052=)
n.2242T>A
c.3300T>A (p.Ala1100=)
c.3297T>A (p.Ala1099=)
c.2244T>A (p.Ala748=)
c.3090T>A (p.Ala1030=)
c.2610T>A (p.Ala870=)
12g.47977609dupCA16042898COL2A1c.2949dup (p.Gly984TrpfsTer5)
c.3156dup (p.Gly1053TrpfsTer5)
n.2242dup
c.3300dup (p.Gly1101TrpfsTer5)
c.3297dup (p.Gly1100TrpfsTer5)
c.2244dup (p.Gly749TrpfsTer5)
c.3090dup (p.Gly1031TrpfsTer5)
c.2610dup (p.Gly871TrpfsTer5)
 ClinVar dbSNP
12g.47977610G>ACA384540511COL2A1c.2948C>T (p.Ala983Val)
c.3155C>T (p.Ala1052Val)
n.2241C>T
c.3299C>T (p.Ala1100Val)
c.3296C>T (p.Ala1099Val)
c.2243C>T (p.Ala748Val)
c.3089C>T (p.Ala1030Val)
c.2609C>T (p.Ala870Val)
12g.47977610G>CCA384540512COL2A1c.2948C>G (p.Ala983Gly)
c.3155C>G (p.Ala1052Gly)
n.2241C>G
c.3299C>G (p.Ala1100Gly)
c.3296C>G (p.Ala1099Gly)
c.2243C>G (p.Ala748Gly)
c.3089C>G (p.Ala1030Gly)
c.2609C>G (p.Ala870Gly)
12g.47977610G>TCA384540513COL2A1c.2948C>A (p.Ala983Asp)
c.3155C>A (p.Ala1052Asp)
n.2241C>A
c.3299C>A (p.Ala1100Asp)
c.3296C>A (p.Ala1099Asp)
c.2243C>A (p.Ala748Asp)
c.3089C>A (p.Ala1030Asp)
c.2609C>A (p.Ala870Asp)
12g.47977611C>ACA384540514COL2A1c.2947G>T (p.Ala983Ser)
c.3154G>T (p.Ala1052Ser)
n.2240G>T
c.3298G>T (p.Ala1100Ser)
c.3295G>T (p.Ala1099Ser)
c.2242G>T (p.Ala748Ser)
c.3088G>T (p.Ala1030Ser)
c.2608G>T (p.Ala870Ser)
12g.47977611C>GCA384540515COL2A1c.2947G>C (p.Ala983Pro)
c.3154G>C (p.Ala1052Pro)
n.2240G>C
c.3298G>C (p.Ala1100Pro)
c.3295G>C (p.Ala1099Pro)
c.2242G>C (p.Ala748Pro)
c.3088G>C (p.Ala1030Pro)
c.2608G>C (p.Ala870Pro)
12g.47977611C>TCA384540516COL2A1c.2947G>A (p.Ala983Thr)
c.3154G>A (p.Ala1052Thr)
n.2240G>A
c.3298G>A (p.Ala1100Thr)
c.3295G>A (p.Ala1099Thr)
c.2242G>A (p.Ala748Thr)
c.3088G>A (p.Ala1030Thr)
c.2608G>A (p.Ala870Thr)
12g.47977612A>CCA479454227COL2A1c.2946T>G (p.Ala982=)
c.3153T>G (p.Ala1051=)
n.2239T>G
c.3297T>G (p.Ala1099=)
c.3294T>G (p.Ala1098=)
c.2241T>G (p.Ala747=)
c.3087T>G (p.Ala1029=)
c.2607T>G (p.Ala869=)
 dbSNP
12g.47977612A>GCA479454229COL2A1c.2946T>C (p.Ala982=)
c.3153T>C (p.Ala1051=)
n.2239T>C
c.3297T>C (p.Ala1099=)
c.3294T>C (p.Ala1098=)
c.2241T>C (p.Ala747=)
c.3087T>C (p.Ala1029=)
c.2607T>C (p.Ala869=)
12g.47977612A>TCA479454231COL2A1c.2946T>A (p.Ala982=)
c.3153T>A (p.Ala1051=)
n.2239T>A
c.3297T>A (p.Ala1099=)
c.3294T>A (p.Ala1098=)
c.2241T>A (p.Ala747=)
c.3087T>A (p.Ala1029=)
c.2607T>A (p.Ala869=)
12g.47977613G>ACA384540517COL2A1c.2945C>T (p.Ala982Val)
c.3152C>T (p.Ala1051Val)
n.2238C>T
c.3296C>T (p.Ala1099Val)
c.3293C>T (p.Ala1098Val)
c.2240C>T (p.Ala747Val)
c.3086C>T (p.Ala1029Val)
c.2606C>T (p.Ala869Val)
12g.47977613G>CCA384540518COL2A1c.2945C>G (p.Ala982Gly)
c.3152C>G (p.Ala1051Gly)
n.2238C>G
c.3296C>G (p.Ala1099Gly)
c.3293C>G (p.Ala1098Gly)
c.2240C>G (p.Ala747Gly)
c.3086C>G (p.Ala1029Gly)
c.2606C>G (p.Ala869Gly)
 gnomAD v4
12g.47977613G>TCA384540519COL2A1c.2945C>A (p.Ala982Asp)
c.3152C>A (p.Ala1051Asp)
n.2238C>A
c.3296C>A (p.Ala1099Asp)
c.3293C>A (p.Ala1098Asp)
c.2240C>A (p.Ala747Asp)
c.3086C>A (p.Ala1029Asp)
c.2606C>A (p.Ala869Asp)
12g.47977614C>ACA384540520COL2A1c.2944G>T (p.Ala982Ser)
c.3151G>T (p.Ala1051Ser)
n.2237G>T
c.3295G>T (p.Ala1099Ser)
c.3292G>T (p.Ala1098Ser)
c.2239G>T (p.Ala747Ser)
c.3085G>T (p.Ala1029Ser)
c.2605G>T (p.Ala869Ser)
12g.47977614C=CA2034476502COL2A1c.2944G= (p.Ala982=)
c.3151G= (p.Ala1051=)
n.2237G=
c.3295G= (p.Ala1099=)
c.3292G= (p.Ala1098=)
c.2239G= (p.Ala747=)
c.3085G= (p.Ala1029=)
c.2605G= (p.Ala869=)
12g.47977614C>GCA384540521COL2A1c.2944G>C (p.Ala982Pro)
c.3151G>C (p.Ala1051Pro)
n.2237G>C
c.3295G>C (p.Ala1099Pro)
c.3292G>C (p.Ala1098Pro)
c.2239G>C (p.Ala747Pro)
c.3085G>C (p.Ala1029Pro)
c.2605G>C (p.Ala869Pro)
 dbSNP
12g.47977614C>TCA6534867COL2A1c.2944G>A (p.Ala982Thr)
c.3151G>A (p.Ala1051Thr)
n.2237G>A
c.3295G>A (p.Ala1099Thr)
c.3292G>A (p.Ala1098Thr)
c.2239G>A (p.Ala747Thr)
c.3085G>A (p.Ala1029Thr)
c.2605G>A (p.Ala869Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977615G>ACA6534868COL2A1c.2943C>T (p.Gly981=)
c.3150C>T (p.Gly1050=)
n.2236C>T
c.3294C>T (p.Gly1098=)
c.3291C>T (p.Gly1097=)
c.2238C>T (p.Gly746=)
c.3084C>T (p.Gly1028=)
c.2604C>T (p.Gly868=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47977615G>CCA479454243COL2A1c.2943C>G (p.Gly981=)
c.3150C>G (p.Gly1050=)
n.2236C>G
c.3294C>G (p.Gly1098=)
c.3291C>G (p.Gly1097=)
c.2238C>G (p.Gly746=)
c.3084C>G (p.Gly1028=)
c.2604C>G (p.Gly868=)
12g.47977615G=CA2034476503COL2A1c.2943C= (p.Gly981=)
c.3150C= (p.Gly1050=)
n.2236C=
c.3294C= (p.Gly1098=)
c.3291C= (p.Gly1097=)
c.2238C= (p.Gly746=)
c.3084C= (p.Gly1028=)
c.2604C= (p.Gly868=)
12g.47977615G>TCA479454245COL2A1c.2943C>A (p.Gly981=)
c.3150C>A (p.Gly1050=)
n.2236C>A
c.3294C>A (p.Gly1098=)
c.3291C>A (p.Gly1097=)
c.2238C>A (p.Gly746=)
c.3084C>A (p.Gly1028=)
c.2604C>A (p.Gly868=)
12g.47977616C>ACA384540522COL2A1c.2942G>T (p.Gly981Val)
c.3149G>T (p.Gly1050Val)
n.2235G>T
c.3293G>T (p.Gly1098Val)
c.3290G>T (p.Gly1097Val)
c.2237G>T (p.Gly746Val)
c.3083G>T (p.Gly1028Val)
c.2603G>T (p.Gly868Val)
 ClinVar dbSNP
12g.47977616C=CA2034476504COL2A1c.2942G= (p.Gly981=)
c.3149G= (p.Gly1050=)
n.2235G=
c.3293G= (p.Gly1098=)
c.3290G= (p.Gly1097=)
c.2237G= (p.Gly746=)
c.3083G= (p.Gly1028=)
c.2603G= (p.Gly868=)
12g.47977616C>GCA384540523COL2A1c.2942G>C (p.Gly981Ala)
c.3149G>C (p.Gly1050Ala)
n.2235G>C
c.3293G>C (p.Gly1098Ala)
c.3290G>C (p.Gly1097Ala)
c.2237G>C (p.Gly746Ala)
c.3083G>C (p.Gly1028Ala)
c.2603G>C (p.Gly868Ala)
12g.47977616C>TCA384540524COL2A1c.2942G>A (p.Gly981Asp)
c.3149G>A (p.Gly1050Asp)
n.2235G>A
c.3293G>A (p.Gly1098Asp)
c.3290G>A (p.Gly1097Asp)
c.2237G>A (p.Gly746Asp)
c.3083G>A (p.Gly1028Asp)
c.2603G>A (p.Gly868Asp)
 ClinVar dbSNP
12g.47977617C>ACA384540525COL2A1c.2941G>T (p.Gly981Cys)
c.3148G>T (p.Gly1050Cys)
n.2234G>T
c.3292G>T (p.Gly1098Cys)
c.3289G>T (p.Gly1097Cys)
c.2236G>T (p.Gly746Cys)
c.3082G>T (p.Gly1028Cys)
c.2602G>T (p.Gly868Cys)
12g.47977617C>GCA384540526COL2A1c.2941G>C (p.Gly981Arg)
c.3148G>C (p.Gly1050Arg)
n.2234G>C
c.3292G>C (p.Gly1098Arg)
c.3289G>C (p.Gly1097Arg)
c.2236G>C (p.Gly746Arg)
c.3082G>C (p.Gly1028Arg)
c.2602G>C (p.Gly868Arg)
12g.47977617C>TCA384540527COL2A1c.2941G>A (p.Gly981Ser)
c.3148G>A (p.Gly1050Ser)
n.2234G>A
c.3292G>A (p.Gly1098Ser)
c.3289G>A (p.Gly1097Ser)
c.2236G>A (p.Gly746Ser)
c.3082G>A (p.Gly1028Ser)
c.2602G>A (p.Gly868Ser)
12g.47977618A=CA2034476505COL2A1c.2940T= (p.Asp980=)
c.3147T= (p.Asp1049=)
n.2233T=
c.3291T= (p.Asp1097=)
c.3288T= (p.Asp1096=)
c.2235T= (p.Asp745=)
c.3081T= (p.Asp1027=)
c.2601T= (p.Asp867=)
12g.47977618A>CCA384540528COL2A1c.2940T>G (p.Asp980Glu)
c.3147T>G (p.Asp1049Glu)
n.2233T>G
c.3291T>G (p.Asp1097Glu)
c.3288T>G (p.Asp1096Glu)
c.2235T>G (p.Asp745Glu)
c.3081T>G (p.Asp1027Glu)
c.2601T>G (p.Asp867Glu)
12g.47977618A>GCA479454258COL2A1c.2940T>C (p.Asp980=)
c.3147T>C (p.Asp1049=)
n.2233T>C
c.3291T>C (p.Asp1097=)
c.3288T>C (p.Asp1096=)
c.2235T>C (p.Asp745=)
c.3081T>C (p.Asp1027=)
c.2601T>C (p.Asp867=)
 dbSNP gnomAD v2 gnomAD v4
12g.47977618A>TCA384540529COL2A1c.2940T>A (p.Asp980Glu)
c.3147T>A (p.Asp1049Glu)
n.2233T>A
c.3291T>A (p.Asp1097Glu)
c.3288T>A (p.Asp1096Glu)
c.2235T>A (p.Asp745Glu)
c.3081T>A (p.Asp1027Glu)
c.2601T>A (p.Asp867Glu)
12g.47977619T>ACA384540530COL2A1c.2939A>T (p.Asp980Val)
c.3146A>T (p.Asp1049Val)
n.2232A>T
c.3290A>T (p.Asp1097Val)
c.3287A>T (p.Asp1096Val)
c.2234A>T (p.Asp745Val)
c.3080A>T (p.Asp1027Val)
c.2600A>T (p.Asp867Val)
12g.47977619T>CCA384540531COL2A1c.2939A>G (p.Asp980Gly)
c.3146A>G (p.Asp1049Gly)
n.2232A>G
c.3290A>G (p.Asp1097Gly)
c.3287A>G (p.Asp1096Gly)
c.2234A>G (p.Asp745Gly)
c.3080A>G (p.Asp1027Gly)
c.2600A>G (p.Asp867Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.47977619T>GCA384540532COL2A1c.2939A>C (p.Asp980Ala)
c.3146A>C (p.Asp1049Ala)
n.2232A>C
c.3290A>C (p.Asp1097Ala)
c.3287A>C (p.Asp1096Ala)
c.2234A>C (p.Asp745Ala)
c.3080A>C (p.Asp1027Ala)
c.2600A>C (p.Asp867Ala)
12g.47977619T=CA2034476506COL2A1c.2939A= (p.Asp980=)
c.3146A= (p.Asp1049=)
n.2232A=
c.3290A= (p.Asp1097=)
c.3287A= (p.Asp1096=)
c.2234A= (p.Asp745=)
c.3080A= (p.Asp1027=)
c.2600A= (p.Asp867=)
12g.47977620C>ACA384540533COL2A1c.2938G>T (p.Asp980Tyr)
c.3145G>T (p.Asp1049Tyr)
n.2231G>T
c.3289G>T (p.Asp1097Tyr)
c.3286G>T (p.Asp1096Tyr)
c.2233G>T (p.Asp745Tyr)
c.3079G>T (p.Asp1027Tyr)
c.2599G>T (p.Asp867Tyr)
12g.47977620C=CA2034476507COL2A1c.2938G= (p.Asp980=)
c.3145G= (p.Asp1049=)
n.2231G=
c.3289G= (p.Asp1097=)
c.3286G= (p.Asp1096=)
c.2233G= (p.Asp745=)
c.3079G= (p.Asp1027=)
c.2599G= (p.Asp867=)
12g.47977620C>GCA384540534COL2A1c.2938G>C (p.Asp980His)
c.3145G>C (p.Asp1049His)
n.2231G>C
c.3289G>C (p.Asp1097His)
c.3286G>C (p.Asp1096His)
c.2233G>C (p.Asp745His)
c.3079G>C (p.Asp1027His)
c.2599G>C (p.Asp867His)
12g.47977620C>TCA6534869COL2A1c.2938G>A (p.Asp980Asn)
c.3145G>A (p.Asp1049Asn)
n.2231G>A
c.3289G>A (p.Asp1097Asn)
c.3286G>A (p.Asp1096Asn)
c.2233G>A (p.Asp745Asn)
c.3079G>A (p.Asp1027Asn)
c.2599G>A (p.Asp867Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47977621T>ACA6534870COL2A1c.2937A>T (p.Arg979Ser)
c.3144A>T (p.Arg1048Ser)
n.2230A>T
c.3288A>T (p.Arg1096Ser)
c.3285A>T (p.Arg1095Ser)
c.2232A>T (p.Arg744Ser)
c.3078A>T (p.Arg1026Ser)
c.2598A>T (p.Arg866Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977621T>CCA479454271COL2A1c.2937A>G (p.Arg979=)
c.3144A>G (p.Arg1048=)
n.2230A>G
c.3288A>G (p.Arg1096=)
c.3285A>G (p.Arg1095=)
c.2232A>G (p.Arg744=)
c.3078A>G (p.Arg1026=)
c.2598A>G (p.Arg866=)
 ClinVar
12g.47977621T>GCA384540535COL2A1c.2937A>C (p.Arg979Ser)
c.3144A>C (p.Arg1048Ser)
n.2230A>C
c.3288A>C (p.Arg1096Ser)
c.3285A>C (p.Arg1095Ser)
c.2232A>C (p.Arg744Ser)
c.3078A>C (p.Arg1026Ser)
c.2598A>C (p.Arg866Ser)
12g.47977621T=CA2034476508COL2A1c.2937A= (p.Arg979=)
c.3144A= (p.Arg1048=)
n.2230A=
c.3288A= (p.Arg1096=)
c.3285A= (p.Arg1095=)
c.2232A= (p.Arg744=)
c.3078A= (p.Arg1026=)
c.2598A= (p.Arg866=)
12g.47977622C>ACA384540536COL2A1c.2936G>T (p.Arg979Ile)
c.3143G>T (p.Arg1048Ile)
n.2229G>T
c.3287G>T (p.Arg1096Ile)
c.3284G>T (p.Arg1095Ile)
c.2231G>T (p.Arg744Ile)
c.3077G>T (p.Arg1026Ile)
c.2597G>T (p.Arg866Ile)
12g.47977622C>GCA384540537COL2A1c.2936G>C (p.Arg979Thr)
c.3143G>C (p.Arg1048Thr)
n.2229G>C
c.3287G>C (p.Arg1096Thr)
c.3284G>C (p.Arg1095Thr)
c.2231G>C (p.Arg744Thr)
c.3077G>C (p.Arg1026Thr)
c.2597G>C (p.Arg866Thr)
12g.47977622C>TCA384540538COL2A1c.2936G>A (p.Arg979Lys)
c.3143G>A (p.Arg1048Lys)
n.2229G>A
c.3287G>A (p.Arg1096Lys)
c.3284G>A (p.Arg1095Lys)
c.2231G>A (p.Arg744Lys)
c.3077G>A (p.Arg1026Lys)
c.2597G>A (p.Arg866Lys)
 gnomAD v4
12g.47977623T>ACA384540539COL2A1c.2935A>T (p.Arg979Ter)
c.3142A>T (p.Arg1048Ter)
n.2228A>T
c.3286A>T (p.Arg1096Ter)
c.3283A>T (p.Arg1095Ter)
c.2230A>T (p.Arg744Ter)
c.3076A>T (p.Arg1026Ter)
c.2596A>T (p.Arg866Ter)
12g.47977623T>CCA384540540COL2A1c.2935A>G (p.Arg979Gly)
c.3142A>G (p.Arg1048Gly)
n.2228A>G
c.3286A>G (p.Arg1096Gly)
c.3283A>G (p.Arg1095Gly)
c.2230A>G (p.Arg744Gly)
c.3076A>G (p.Arg1026Gly)
c.2596A>G (p.Arg866Gly)
12g.47977623T>GCA479454281COL2A1c.2935A>C (p.Arg979=)
c.3142A>C (p.Arg1048=)
n.2228A>C
c.3286A>C (p.Arg1096=)
c.3283A>C (p.Arg1095=)
c.2230A>C (p.Arg744=)
c.3076A>C (p.Arg1026=)
c.2596A>C (p.Arg866=)
12g.47977624G>ACA479454283COL2A1c.2934C>T (p.Gly978=)
c.3141C>T (p.Gly1047=)
n.2227C>T
c.3285C>T (p.Gly1095=)
c.3282C>T (p.Gly1094=)
c.2229C>T (p.Gly743=)
c.3075C>T (p.Gly1025=)
c.2595C>T (p.Gly865=)
12g.47977624G>CCA479454285COL2A1c.2934C>G (p.Gly978=)
c.3141C>G (p.Gly1047=)
n.2227C>G
c.3285C>G (p.Gly1095=)
c.3282C>G (p.Gly1094=)
c.2229C>G (p.Gly743=)
c.3075C>G (p.Gly1025=)
c.2595C>G (p.Gly865=)
12g.47977624G>TCA479454288COL2A1c.2934C>A (p.Gly978=)
c.3141C>A (p.Gly1047=)
n.2227C>A
c.3285C>A (p.Gly1095=)
c.3282C>A (p.Gly1094=)
c.2229C>A (p.Gly743=)
c.3075C>A (p.Gly1025=)
c.2595C>A (p.Gly865=)
12g.47977625C>ACA384540541COL2A1c.2933G>T (p.Gly978Val)
c.3140G>T (p.Gly1047Val)
n.2226G>T
c.3284G>T (p.Gly1095Val)
c.3281G>T (p.Gly1094Val)
c.2228G>T (p.Gly743Val)
c.3074G>T (p.Gly1025Val)
c.2594G>T (p.Gly865Val)
12g.47977625C>GCA384540542COL2A1c.2933G>C (p.Gly978Ala)
c.3140G>C (p.Gly1047Ala)
n.2226G>C
c.3284G>C (p.Gly1095Ala)
c.3281G>C (p.Gly1094Ala)
c.2228G>C (p.Gly743Ala)
c.3074G>C (p.Gly1025Ala)
c.2594G>C (p.Gly865Ala)
12g.47977625C>TCA384540543COL2A1c.2933G>A (p.Gly978Asp)
c.3140G>A (p.Gly1047Asp)
n.2226G>A
c.3284G>A (p.Gly1095Asp)
c.3281G>A (p.Gly1094Asp)
c.2228G>A (p.Gly743Asp)
c.3074G>A (p.Gly1025Asp)
c.2594G>A (p.Gly865Asp)
12g.47977626C>ACA384540544COL2A1c.2932G>T (p.Gly978Cys)
c.3139G>T (p.Gly1047Cys)
n.2225G>T
c.3283G>T (p.Gly1095Cys)
c.3280G>T (p.Gly1094Cys)
c.2227G>T (p.Gly743Cys)
c.3073G>T (p.Gly1025Cys)
c.2593G>T (p.Gly865Cys)
12g.47977626C=CA2034476509COL2A1c.2932G= (p.Gly978=)
c.3139G= (p.Gly1047=)
n.2225G=
c.3283G= (p.Gly1095=)
c.3280G= (p.Gly1094=)
c.2227G= (p.Gly743=)
c.3073G= (p.Gly1025=)
c.2593G= (p.Gly865=)
12g.47977626C>GCA384540545COL2A1c.2932G>C (p.Gly978Arg)
c.3139G>C (p.Gly1047Arg)
n.2225G>C
c.3283G>C (p.Gly1095Arg)
c.3280G>C (p.Gly1094Arg)
c.2227G>C (p.Gly743Arg)
c.3073G>C (p.Gly1025Arg)
c.2593G>C (p.Gly865Arg)
12g.47977626C>TCA384540546COL2A1c.2932G>A (p.Gly978Ser)
c.3139G>A (p.Gly1047Ser)
n.2225G>A
c.3283G>A (p.Gly1095Ser)
c.3280G>A (p.Gly1094Ser)
c.2227G>A (p.Gly743Ser)
c.3073G>A (p.Gly1025Ser)
c.2593G>A (p.Gly865Ser)
 ClinVar dbSNP
12g.47977626_47977627delinsCACA2034476510COL2A1c.2931_2932delinsTG (p.Pro977=)
c.3138_3139delinsTG (p.Pro1046=)
n.2224_2225delinsTG
c.3282_3283delinsTG (p.Pro1094=)
c.3279_3280delinsTG (p.Pro1093=)
c.2226_2227delinsTG (p.Pro742=)
c.3072_3073delinsTG (p.Pro1024=)
c.2592_2593delinsTG (p.Pro864=)
12g.47977627delCA281745COL2A1c.2931del (p.Gly978AlafsTer?)
c.3138del (p.Gly1047AlafsTer?)
n.2224del
c.3282del (p.Gly1095AlafsTer?)
c.3279del (p.Gly1094AlafsTer?)
c.2226del (p.Gly743AlafsTer?)
c.3072del (p.Gly1025AlafsTer?)
c.2592del (p.Gly865AlafsTer?)
 ClinVar dbSNP
12g.47977627A>CCA479454301COL2A1c.2931T>G (p.Pro977=)
c.3138T>G (p.Pro1046=)
n.2224T>G
c.3282T>G (p.Pro1094=)
c.3279T>G (p.Pro1093=)
c.2226T>G (p.Pro742=)
c.3072T>G (p.Pro1024=)
c.2592T>G (p.Pro864=)
12g.47977627A>GCA479454298COL2A1c.2931T>C (p.Pro977=)
c.3138T>C (p.Pro1046=)
n.2224T>C
c.3282T>C (p.Pro1094=)
c.3279T>C (p.Pro1093=)
c.2226T>C (p.Pro742=)
c.3072T>C (p.Pro1024=)
c.2592T>C (p.Pro864=)
12g.47977627A>TCA479454299COL2A1c.2931T>A (p.Pro977=)
c.3138T>A (p.Pro1046=)
n.2224T>A
c.3282T>A (p.Pro1094=)
c.3279T>A (p.Pro1093=)
c.2226T>A (p.Pro742=)
c.3072T>A (p.Pro1024=)
c.2592T>A (p.Pro864=)
12g.47977627_47977628delinsAGCA2034476511COL2A1c.2930_2931delinsCT (p.Pro977=)
c.3137_3138delinsCT (p.Pro1046=)
n.2223_2224delinsCT
c.3281_3282delinsCT (p.Pro1094=)
c.3278_3279delinsCT (p.Pro1093=)
c.2225_2226delinsCT (p.Pro742=)
c.3071_3072delinsCT (p.Pro1024=)
c.2591_2592delinsCT (p.Pro864=)
12g.47977628G>ACA384540548COL2A1c.2930C>T (p.Pro977Leu)
c.3137C>T (p.Pro1046Leu)
n.2223C>T
c.3281C>T (p.Pro1094Leu)
c.3278C>T (p.Pro1093Leu)
c.2225C>T (p.Pro742Leu)
c.3071C>T (p.Pro1024Leu)
c.2591C>T (p.Pro864Leu)
 ClinVar
12g.47977628G>CCA6534871COL2A1c.2930C>G (p.Pro977Arg)
c.3137C>G (p.Pro1046Arg)
n.2223C>G
c.3281C>G (p.Pro1094Arg)
c.3278C>G (p.Pro1093Arg)
c.2225C>G (p.Pro742Arg)
c.3071C>G (p.Pro1024Arg)
c.2591C>G (p.Pro864Arg)
 dbSNP ExAC gnomAD v2
12g.47977628G=CA2034476512COL2A1c.2930C= (p.Pro977=)
c.3137C= (p.Pro1046=)
n.2223C=
c.3281C= (p.Pro1094=)
c.3278C= (p.Pro1093=)
c.2225C= (p.Pro742=)
c.3071C= (p.Pro1024=)
c.2591C= (p.Pro864=)
12g.47977628G>TCA384540547COL2A1c.2930C>A (p.Pro977His)
c.3137C>A (p.Pro1046His)
n.2223C>A
c.3281C>A (p.Pro1094His)
c.3278C>A (p.Pro1093His)
c.2225C>A (p.Pro742His)
c.3071C>A (p.Pro1024His)
c.2591C>A (p.Pro864His)
12g.47977633dupCA2529301832COL2A1c.2930dup (p.Gly978TrpfsTer11)
c.3137dup (p.Gly1047TrpfsTer11)
n.2223dup
c.3281dup (p.Gly1095TrpfsTer11)
c.3278dup (p.Gly1094TrpfsTer11)
c.2225dup (p.Gly743TrpfsTer11)
c.3071dup (p.Gly1025TrpfsTer11)
c.2591dup (p.Gly865TrpfsTer11)
 ClinVar
12g.47977633delCA1139662612COL2A1c.2930del (p.Pro977LeufsTer?)
c.3137del (p.Pro1046LeufsTer?)
n.2223del
c.3281del (p.Pro1094LeufsTer?)
c.3278del (p.Pro1093LeufsTer?)
c.2225del (p.Pro742LeufsTer?)
c.3071del (p.Pro1024LeufsTer?)
c.2591del (p.Pro864LeufsTer?)
 ClinVar dbSNP
12g.47977629G>ACA384540549COL2A1c.2929C>T (p.Pro977Ser)
c.3136C>T (p.Pro1046Ser)
n.2222C>T
c.3280C>T (p.Pro1094Ser)
c.3277C>T (p.Pro1093Ser)
c.2224C>T (p.Pro742Ser)
c.3070C>T (p.Pro1024Ser)
c.2590C>T (p.Pro864Ser)
 ClinVar dbSNP
12g.47977629G>CCA6534872COL2A1c.2929C>G (p.Pro977Ala)
c.3136C>G (p.Pro1046Ala)
n.2222C>G
c.3280C>G (p.Pro1094Ala)
c.3277C>G (p.Pro1093Ala)
c.2224C>G (p.Pro742Ala)
c.3070C>G (p.Pro1024Ala)
c.2590C>G (p.Pro864Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977629G=CA2034476513COL2A1c.2929C= (p.Pro977=)
c.3136C= (p.Pro1046=)
n.2222C=
c.3280C= (p.Pro1094=)
c.3277C= (p.Pro1093=)
c.2224C= (p.Pro742=)
c.3070C= (p.Pro1024=)
c.2590C= (p.Pro864=)
12g.47977629G>TCA384540550COL2A1c.2929C>A (p.Pro977Thr)
c.3136C>A (p.Pro1046Thr)
n.2222C>A
c.3280C>A (p.Pro1094Thr)
c.3277C>A (p.Pro1093Thr)
c.2224C>A (p.Pro742Thr)
c.3070C>A (p.Pro1024Thr)
c.2590C>A (p.Pro864Thr)
12g.47977630G>ACA479454313COL2A1c.2928C>T (p.Pro976=)
c.3135C>T (p.Pro1045=)
n.2221C>T
c.3279C>T (p.Pro1093=)
c.3276C>T (p.Pro1092=)
c.2223C>T (p.Pro741=)
c.3069C>T (p.Pro1023=)
c.2589C>T (p.Pro863=)
12g.47977630G>CCA479454312COL2A1c.2928C>G (p.Pro976=)
c.3135C>G (p.Pro1045=)
n.2221C>G
c.3279C>G (p.Pro1093=)
c.3276C>G (p.Pro1092=)
c.2223C>G (p.Pro741=)
c.3069C>G (p.Pro1023=)
c.2589C>G (p.Pro863=)
12g.47977630G>TCA479454310COL2A1c.2928C>A (p.Pro976=)
c.3135C>A (p.Pro1045=)
n.2221C>A
c.3279C>A (p.Pro1093=)
c.3276C>A (p.Pro1092=)
c.2223C>A (p.Pro741=)
c.3069C>A (p.Pro1023=)
c.2589C>A (p.Pro863=)
12g.47977631G>ACA384540551COL2A1c.2927C>T (p.Pro976Leu)
c.3134C>T (p.Pro1045Leu)
n.2220C>T
c.3278C>T (p.Pro1093Leu)
c.3275C>T (p.Pro1092Leu)
c.2222C>T (p.Pro741Leu)
c.3068C>T (p.Pro1023Leu)
c.2588C>T (p.Pro863Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.47977631G>CCA384540552COL2A1c.2927C>G (p.Pro976Arg)
c.3134C>G (p.Pro1045Arg)
n.2220C>G
c.3278C>G (p.Pro1093Arg)
c.3275C>G (p.Pro1092Arg)
c.2222C>G (p.Pro741Arg)
c.3068C>G (p.Pro1023Arg)
c.2588C>G (p.Pro863Arg)
12g.47977631G=CA2034476514COL2A1c.2927C= (p.Pro976=)
c.3134C= (p.Pro1045=)
n.2220C=
c.3278C= (p.Pro1093=)
c.3275C= (p.Pro1092=)
c.2222C= (p.Pro741=)
c.3068C= (p.Pro1023=)
c.2588C= (p.Pro863=)
12g.47977631G>TCA384540553COL2A1c.2927C>A (p.Pro976His)
c.3134C>A (p.Pro1045His)
n.2220C>A
c.3278C>A (p.Pro1093His)
c.3275C>A (p.Pro1092His)
c.2222C>A (p.Pro741His)
c.3068C>A (p.Pro1023His)
c.2588C>A (p.Pro863His)
12g.47977632G>ACA384540554COL2A1c.2926C>T (p.Pro976Ser)
c.3133C>T (p.Pro1045Ser)
n.2219C>T
c.3277C>T (p.Pro1093Ser)
c.3274C>T (p.Pro1092Ser)
c.2221C>T (p.Pro741Ser)
c.3067C>T (p.Pro1023Ser)
c.2587C>T (p.Pro863Ser)
 dbSNP gnomAD v2
12g.47977632G>CCA6534873COL2A1c.2926C>G (p.Pro976Ala)
c.3133C>G (p.Pro1045Ala)
n.2219C>G
c.3277C>G (p.Pro1093Ala)
c.3274C>G (p.Pro1092Ala)
c.2221C>G (p.Pro741Ala)
c.3067C>G (p.Pro1023Ala)
c.2587C>G (p.Pro863Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977632G=CA2034476515COL2A1c.2926C= (p.Pro976=)
c.3133C= (p.Pro1045=)
n.2219C=
c.3277C= (p.Pro1093=)
c.3274C= (p.Pro1092=)
c.2221C= (p.Pro741=)
c.3067C= (p.Pro1023=)
c.2587C= (p.Pro863=)
12g.47977632G>TCA384540555COL2A1c.2926C>A (p.Pro976Thr)
c.3133C>A (p.Pro1045Thr)
n.2219C>A
c.3277C>A (p.Pro1093Thr)
c.3274C>A (p.Pro1092Thr)
c.2221C>A (p.Pro741Thr)
c.3067C>A (p.Pro1023Thr)
c.2587C>A (p.Pro863Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47977633G>ACA479454324COL2A1c.2925C>T (p.Gly975=)
c.3132C>T (p.Gly1044=)
n.2218C>T
c.3276C>T (p.Gly1092=)
c.3273C>T (p.Gly1091=)
c.2220C>T (p.Gly740=)
c.3066C>T (p.Gly1022=)
c.2586C>T (p.Gly862=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47977633G>CCA6534874COL2A1c.2925C>G (p.Gly975=)
c.3132C>G (p.Gly1044=)
n.2218C>G
c.3276C>G (p.Gly1092=)
c.3273C>G (p.Gly1091=)
c.2220C>G (p.Gly740=)
c.3066C>G (p.Gly1022=)
c.2586C>G (p.Gly862=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47977633G=CA2034476516COL2A1c.2925C= (p.Gly975=)
c.3132C= (p.Gly1044=)
n.2218C=
c.3276C= (p.Gly1092=)
c.3273C= (p.Gly1091=)
c.2220C= (p.Gly740=)
c.3066C= (p.Gly1022=)
c.2586C= (p.Gly862=)
12g.47977633G>TCA479454322COL2A1c.2925C>A (p.Gly975=)
c.3132C>A (p.Gly1044=)
n.2218C>A
c.3276C>A (p.Gly1092=)
c.3273C>A (p.Gly1091=)
c.2220C>A (p.Gly740=)
c.3066C>A (p.Gly1022=)
c.2586C>A (p.Gly862=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47977634C>ACA384540556COL2A1c.2924G>T (p.Gly975Val)
c.3131G>T (p.Gly1044Val)
n.2217G>T
c.3275G>T (p.Gly1092Val)
c.3272G>T (p.Gly1091Val)
c.2219G>T (p.Gly740Val)
c.3065G>T (p.Gly1022Val)
c.2585G>T (p.Gly862Val)
12g.47977634C=CA2034476517COL2A1c.2924G= (p.Gly975=)
c.3131G= (p.Gly1044=)
n.2217G=
c.3275G= (p.Gly1092=)
c.3272G= (p.Gly1091=)
c.2219G= (p.Gly740=)
c.3065G= (p.Gly1022=)
c.2585G= (p.Gly862=)
12g.47977634C>GCA384540557COL2A1c.2924G>C (p.Gly975Ala)
c.3131G>C (p.Gly1044Ala)
n.2217G>C
c.3275G>C (p.Gly1092Ala)
c.3272G>C (p.Gly1091Ala)
c.2219G>C (p.Gly740Ala)
c.3065G>C (p.Gly1022Ala)
c.2585G>C (p.Gly862Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47977634C>TCA384540558COL2A1c.2924G>A (p.Gly975Asp)
c.3131G>A (p.Gly1044Asp)
n.2217G>A
c.3275G>A (p.Gly1092Asp)
c.3272G>A (p.Gly1091Asp)
c.2219G>A (p.Gly740Asp)
c.3065G>A (p.Gly1022Asp)
c.2585G>A (p.Gly862Asp)
12g.47977635delCA2580085504COL2A1c.2924del (p.Gly975AlafsTer?)
c.3131del (p.Gly1044AlafsTer?)
n.2217del
c.3275del (p.Gly1092AlafsTer?)
c.3272del (p.Gly1091AlafsTer?)
c.2219del (p.Gly740AlafsTer?)
c.3065del (p.Gly1022AlafsTer?)
c.2585del (p.Gly862AlafsTer?)
 ClinVar
12g.47977635C>ACA384540559COL2A1c.2923G>T (p.Gly975Cys)
c.3130G>T (p.Gly1044Cys)
n.2216G>T
c.3274G>T (p.Gly1092Cys)
c.3271G>T (p.Gly1091Cys)
c.2218G>T (p.Gly740Cys)
c.3064G>T (p.Gly1022Cys)
c.2584G>T (p.Gly862Cys)
12g.47977635C>GCA384540561COL2A1c.2923G>C (p.Gly975Arg)
c.3130G>C (p.Gly1044Arg)
n.2216G>C
c.3274G>C (p.Gly1092Arg)
c.3271G>C (p.Gly1091Arg)
c.2218G>C (p.Gly740Arg)
c.3064G>C (p.Gly1022Arg)
c.2584G>C (p.Gly862Arg)
12g.47977635C>TCA384540560COL2A1c.2923G>A (p.Gly975Ser)
c.3130G>A (p.Gly1044Ser)
n.2216G>A
c.3274G>A (p.Gly1092Ser)
c.3271G>A (p.Gly1091Ser)
c.2218G>A (p.Gly740Ser)
c.3064G>A (p.Gly1022Ser)
c.2584G>A (p.Gly862Ser)
 ClinVar dbSNP
12g.47977636A>CCA384540562COL2A1c.2922T>G (p.Asp974Glu)
c.3129T>G (p.Asp1043Glu)
n.2215T>G
c.3273T>G (p.Asp1091Glu)
c.3270T>G (p.Asp1090Glu)
c.2217T>G (p.Asp739Glu)
c.3063T>G (p.Asp1021Glu)
c.2583T>G (p.Asp861Glu)
12g.47977636A>GCA479454334COL2A1c.2922T>C (p.Asp974=)
c.3129T>C (p.Asp1043=)
n.2215T>C
c.3273T>C (p.Asp1091=)
c.3270T>C (p.Asp1090=)
c.2217T>C (p.Asp739=)
c.3063T>C (p.Asp1021=)
c.2583T>C (p.Asp861=)
 gnomAD v4
12g.47977636A>TCA384540563COL2A1c.2922T>A (p.Asp974Glu)
c.3129T>A (p.Asp1043Glu)
n.2215T>A
c.3273T>A (p.Asp1091Glu)
c.3270T>A (p.Asp1090Glu)
c.2217T>A (p.Asp739Glu)
c.3063T>A (p.Asp1021Glu)
c.2583T>A (p.Asp861Glu)
12g.47977637T>ACA384540564COL2A1c.2921A>T (p.Asp974Val)
c.3128A>T (p.Asp1043Val)
n.2214A>T
c.3272A>T (p.Asp1091Val)
c.3269A>T (p.Asp1090Val)
c.2216A>T (p.Asp739Val)
c.3062A>T (p.Asp1021Val)
c.2582A>T (p.Asp861Val)
12g.47977637T>CCA384540566COL2A1c.2921A>G (p.Asp974Gly)
c.3128A>G (p.Asp1043Gly)
n.2214A>G
c.3272A>G (p.Asp1091Gly)
c.3269A>G (p.Asp1090Gly)
c.2216A>G (p.Asp739Gly)
c.3062A>G (p.Asp1021Gly)
c.2582A>G (p.Asp861Gly)
12g.47977637T>GCA384540565COL2A1c.2921A>C (p.Asp974Ala)
c.3128A>C (p.Asp1043Ala)
n.2214A>C
c.3272A>C (p.Asp1091Ala)
c.3269A>C (p.Asp1090Ala)
c.2216A>C (p.Asp739Ala)
c.3062A>C (p.Asp1021Ala)
c.2582A>C (p.Asp861Ala)
12g.47977638C>ACA384540567COL2A1c.2920G>T (p.Asp974Tyr)
c.3127G>T (p.Asp1043Tyr)
n.2213G>T
c.3271G>T (p.Asp1091Tyr)
c.3268G>T (p.Asp1090Tyr)
c.2215G>T (p.Asp739Tyr)
c.3061G>T (p.Asp1021Tyr)
c.2581G>T (p.Asp861Tyr)
12g.47977638C>GCA384540568COL2A1c.2920G>C (p.Asp974His)
c.3127G>C (p.Asp1043His)
n.2213G>C
c.3271G>C (p.Asp1091His)
c.3268G>C (p.Asp1090His)
c.2215G>C (p.Asp739His)
c.3061G>C (p.Asp1021His)
c.2581G>C (p.Asp861His)
12g.47977638C>TCA384540569COL2A1c.2920G>A (p.Asp974Asn)
c.3127G>A (p.Asp1043Asn)
n.2213G>A
c.3271G>A (p.Asp1091Asn)
c.3268G>A (p.Asp1090Asn)
c.2215G>A (p.Asp739Asn)
c.3061G>A (p.Asp1021Asn)
c.2581G>A (p.Asp861Asn)
12g.47977639A>CCA479454344COL2A1c.2919T>G (p.Ala973=)
c.3126T>G (p.Ala1042=)
n.2212T>G
c.3270T>G (p.Ala1090=)
c.3267T>G (p.Ala1089=)
c.2214T>G (p.Ala738=)
c.3060T>G (p.Ala1020=)
c.2580T>G (p.Ala860=)
12g.47977639A>GCA479454346COL2A1c.2919T>C (p.Ala973=)
c.3126T>C (p.Ala1042=)
n.2212T>C
c.3270T>C (p.Ala1090=)
c.3267T>C (p.Ala1089=)
c.2214T>C (p.Ala738=)
c.3060T>C (p.Ala1020=)
c.2580T>C (p.Ala860=)
12g.47977639A>TCA479454347COL2A1c.2919T>A (p.Ala973=)
c.3126T>A (p.Ala1042=)
n.2212T>A
c.3270T>A (p.Ala1090=)
c.3267T>A (p.Ala1089=)
c.2214T>A (p.Ala738=)
c.3060T>A (p.Ala1020=)
c.2580T>A (p.Ala860=)
12g.47977640G>ACA384540570COL2A1c.2918C>T (p.Ala973Val)
c.3125C>T (p.Ala1042Val)
n.2211C>T
c.3269C>T (p.Ala1090Val)
c.3266C>T (p.Ala1089Val)
c.2213C>T (p.Ala738Val)
c.3059C>T (p.Ala1020Val)
c.2579C>T (p.Ala860Val)
12g.47977640G>CCA384540571COL2A1c.2918C>G (p.Ala973Gly)
c.3125C>G (p.Ala1042Gly)
n.2211C>G
c.3269C>G (p.Ala1090Gly)
c.3266C>G (p.Ala1089Gly)
c.2213C>G (p.Ala738Gly)
c.3059C>G (p.Ala1020Gly)
c.2579C>G (p.Ala860Gly)
12g.47977640G>TCA384540572COL2A1c.2918C>A (p.Ala973Asp)
c.3125C>A (p.Ala1042Asp)
n.2211C>A
c.3269C>A (p.Ala1090Asp)
c.3266C>A (p.Ala1089Asp)
c.2213C>A (p.Ala738Asp)
c.3059C>A (p.Ala1020Asp)
c.2579C>A (p.Ala860Asp)
12g.47977640_47977643dupCA2499221657COL2A1c.2915_2918dup (p.Asp974CysfsTer2)
c.3122_3125dup (p.Asp1043CysfsTer2)
n.2208_2211dup
c.3266_3269dup (p.Asp1091CysfsTer2)
c.3263_3266dup (p.Asp1090CysfsTer2)
c.2210_2213dup (p.Asp739CysfsTer2)
c.3056_3059dup (p.Asp1021CysfsTer2)
c.2576_2579dup (p.Asp861CysfsTer2)
 ClinVar dbSNP

Number of alleles fetched