Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47977510_47977598delinsCTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCA | CA2034476448 | COL2A1 | c.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) | |
12 | g.47977511_47977598del | CA1139662611 | COL2A1 | c.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 |
12 | g.47977547C= | CA2034476461 | COL2A1 | c.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=) | |
12 | g.47977547C>T | CA2034476462 | COL2A1 | c.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 |
12 | g.47977549C= | CA2034476463 | COL2A1 | c.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=) | |
12 | g.47977549C>T | CA6534853 | COL2A1 | c.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 |
12 | g.47977550G>A | CA605231659 | COL2A1 | c.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 |
12 | g.47977550G= | CA2034476464 | COL2A1 | c.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=) | |
12 | g.47977551A= | CA2034476465 | COL2A1 | c.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=) | |
12 | g.47977551A>G | CA6534854 | COL2A1 | c.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 |
12 | g.47977551_47977552delinsAG | CA2034476466 | COL2A1 | c.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) | |
12 | g.47977552G= | CA2034476467 | COL2A1 | c.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=) | |
12 | g.47977552G>T | CA605231661 | COL2A1 | c.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 |
12 | g.47977553del | CA605231660 | COL2A1 | c.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 |
12 | g.47977553G>A | CA605231662 | COL2A1 | c.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 |
12 | g.47977553G= | CA2034476468 | COL2A1 | c.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=) | |
12 | g.47977553G>T | CA2575137248 | COL2A1 | c.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) | |
12 | g.47977555A= | CA2034476469 | COL2A1 | c.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=) | |
12 | g.47977555A>G | CA947351789 | COL2A1 | c.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 |
12 | g.47977557T>A | CA2581084968 | COL2A1 | c.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) | |
12 | g.47977557T>C | CA6534855 | COL2A1 | c.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 |
12 | g.47977557T>G | CA2581084969 | COL2A1 | c.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) | |
12 | g.47977557T= | CA2034476470 | COL2A1 | c.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=) | |
12 | g.47977558G>A | CA689436814 | COL2A1 | c.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 |
12 | g.47977558G>C | CA2618512193 | COL2A1 | c.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 |
12 | g.47977558G= | CA2034476471 | COL2A1 | c.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=) | |
12 | g.47977560C>A | CA6534856 | COL2A1 | c.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 |
12 | g.47977560C= | CA2034476472 | COL2A1 | c.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=) | |
12 | g.47977560C>T | CA2618512233 | COL2A1 | c.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 |
12 | g.47977561C= | CA2034476473 | COL2A1 | c.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=) | |
12 | g.47977561C>G | CA6534857 | COL2A1 | c.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 |
12 | g.47977562T>A | CA2618512239 | COL2A1 | c.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 |
12 | g.47977562_47977563delinsTC | CA2034476474 | COL2A1 | c.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) | |
12 | g.47977566del | CA6534858 | COL2A1 | c.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 |
12 | g.47977564C>A | CA605231663 | COL2A1 | c.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 |
12 | g.47977564C= | CA2034476475 | COL2A1 | c.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=) | |
12 | g.47977565C>A | CA2575137257 | COL2A1 | c.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) | |
12 | g.47977565C= | CA2034476476 | COL2A1 | c.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=) | |
12 | g.47977565C>G | CA605231664 | COL2A1 | c.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 |
12 | g.47977565C>T | CA2034476477 | COL2A1 | c.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 |
12 | g.47977566C>A | CA2795864175 | COL2A1 | c.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) | |
12 | g.47977567A= | CA2034476478 | COL2A1 | c.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=) | |
12 | g.47977567A>G | CA236521135 | COL2A1 | c.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 |
12 | g.47977568A= | CA2034476479 | COL2A1 | c.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=) | |
12 | g.47977568A>C | CA2618512249 | COL2A1 | c.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 |
12 | g.47977568A>G | CA6534859 | COL2A1 | c.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 |
12 | g.47977569C= | CA2034476480 | COL2A1 | c.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=) | |
12 | g.47977569C>T | CA2034476481 | COL2A1 | c.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 |
12 | g.47977571C>T | CA2575137259 | COL2A1 | c.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 |
12 | g.47977572A>C | CA2618512254 | COL2A1 | c.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 |
12 | g.47977572A>G | CA2618512252 | COL2A1 | c.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 |
12 | g.47977573C= | CA2034476482 | COL2A1 | c.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=) | |
12 | g.47977573C>T | CA6534860 | COL2A1 | c.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 |
12 | g.47977574T>G | CA2575137260 | COL2A1 | c.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) | |
12 | g.47977575G>T | CA2726225560 | COL2A1 | c.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 |
12 | g.47977576C= | CA2034476483 | COL2A1 | c.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=) | |
12 | g.47977576C>T | CA6534861 | COL2A1 | c.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 |
12 | g.47977577del | CA2618512261 | COL2A1 | c.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 |
12 | g.47977577A= | CA2034476484 | COL2A1 | c.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=) | |
12 | g.47977577A>T | CA605231665 | COL2A1 | c.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 |
12 | g.47977579A= | CA2034476485 | COL2A1 | c.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=) | |
12 | g.47977579A>C | CA6534862 | COL2A1 | c.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 |
12 | g.47977579A>G | CA2795864181 | COL2A1 | c.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) | |
12 | g.47977580C>A | CA236521150 | COL2A1 | c.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 |
12 | g.47977580C= | CA2034476486 | COL2A1 | c.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=) | |
12 | g.47977583A= | CA2034476487 | COL2A1 | c.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=) | |
12 | g.47977583A>G | CA605231666 | COL2A1 | c.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 |
12 | g.47977584G>C | CA2034476489 | COL2A1 | c.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 |
12 | g.47977584G= | CA2034476488 | COL2A1 | c.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=) | |
12 | g.47977585A= | CA2034476490 | COL2A1 | c.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=) | |
12 | g.47977585A>G | CA605231667 | COL2A1 | c.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 |
12 | g.47977586C= | CA2034476491 | COL2A1 | c.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=) | |
12 | g.47977586C>T | CA6534863 | COL2A1 | c.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 |
12 | g.47977587A= | CA2034476492 | COL2A1 | c.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=) | |
12 | g.47977587A>G | CA605231668 | COL2A1 | c.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 |
12 | g.47977587A>T | CA2618512274 | COL2A1 | c.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 |
12 | g.47977588C>T | CA2618512275 | COL2A1 | c.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 |
12 | g.47977591G>A | CA2618512276 | COL2A1 | c.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 |
12 | g.47977592_47977596delinsACACT | CA2034476493 | COL2A1 | c.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) | |
12 | g.47977596_47977599del | CA6534864 | COL2A1 | c.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 |
12 | g.47977594A>C | CA479454158 | COL2A1 | c.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) | |
12 | g.47977595C= | CA2034476494 | COL2A1 | c.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=) | |
12 | g.47977595C>T | CA2034476495 | COL2A1 | c.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 |
12 | g.47977596T>C | CA479454160 | COL2A1 | c.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 |
12 | g.47977596T= | CA2034476496 | COL2A1 | c.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=) | |
12 | g.47977597C>T | CA2580085498 | COL2A1 | c.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 |
12 | g.47977598A>C | CA384540488 | COL2A1 | c.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) | |
12 | g.47977598A>G | CA384540489 | COL2A1 | c.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) | |
12 | g.47977598A>T | CA384540490 | COL2A1 | c.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) | |
12 | g.47977599C>A | CA384540491 | COL2A1 | c.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 |
12 | g.47977599C= | CA2034476497 | COL2A1 | c.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=) | |
12 | g.47977599C>G | CA384540492 | COL2A1 | c.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) | |
12 | g.47977599C>T | CA6534865 | COL2A1 | c.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 |
12 | g.47977600C>A | CA384540494 | COL2A1 | c.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) | |
12 | g.47977600C>G | CA384540493 | COL2A1 | c.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) | |
12 | g.47977600C>T | CA479454174 | COL2A1 | c.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=) | |
12 | g.47977601T>A | CA384540495 | COL2A1 | c.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) | |
12 | g.47977601T>C | CA384540496 | COL2A1 | c.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) | |
12 | g.47977601T>G | CA384540497 | COL2A1 | c.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) | |
12 | g.47977602T>A | CA384540498 | COL2A1 | c.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) | |
12 | g.47977602T>C | CA384540499 | COL2A1 | c.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) | |
12 | g.47977602T>G | CA384540500 | COL2A1 | c.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 |
12 | g.47977603G>A | CA479454185 | COL2A1 | c.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=) | |
12 | g.47977603G>C | CA479454184 | COL2A1 | c.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=) | |
12 | g.47977603G>T | CA479454182 | COL2A1 | c.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=) | |
12 | g.47977604A>C | CA384540501 | COL2A1 | c.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) | |
12 | g.47977604A>G | CA384540502 | COL2A1 | c.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) | |
12 | g.47977604A>T | CA384540503 | COL2A1 | c.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) | |
12 | g.47977605C>A | CA384540504 | COL2A1 | c.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) | |
12 | g.47977605C= | CA2034476498 | COL2A1 | c.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=) | |
12 | g.47977605C>G | CA384540505 | COL2A1 | c.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 |
12 | g.47977605C>T | CA236521162 | COL2A1 | c.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 |
12 | g.47977606T>A | CA479454199 | COL2A1 | c.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=) | |
12 | g.47977606T>C | CA6534866 | COL2A1 | c.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 |
12 | g.47977606T>G | CA479454201 | COL2A1 | c.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=) | |
12 | g.47977606T= | CA2034476499 | COL2A1 | c.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=) | |
12 | g.47977607C>A | CA384540506 | COL2A1 | c.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) | |
12 | g.47977607C= | CA2034476500 | COL2A1 | c.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=) | |
12 | g.47977607C>G | CA384540507 | COL2A1 | c.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) | |
12 | g.47977607C>T | CA250668 | COL2A1 | c.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 |
12 | g.47977608C>A | CA384540510 | COL2A1 | c.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) | |
12 | g.47977608C= | CA2034476501 | COL2A1 | c.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=) | |
12 | g.47977608C>G | CA384540508 | COL2A1 | c.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) | |
12 | g.47977608C>T | CA384540509 | COL2A1 | c.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 |
12 | g.47977609A>C | CA479454216 | COL2A1 | c.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=) | |
12 | g.47977609A>G | CA479454217 | COL2A1 | c.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=) | |
12 | g.47977609A>T | CA479454218 | COL2A1 | c.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=) | |
12 | g.47977609dup | CA16042898 | COL2A1 | c.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 |
12 | g.47977610G>A | CA384540511 | COL2A1 | c.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) | |
12 | g.47977610G>C | CA384540512 | COL2A1 | c.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) | |
12 | g.47977610G>T | CA384540513 | COL2A1 | c.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) | |
12 | g.47977611C>A | CA384540514 | COL2A1 | c.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) | |
12 | g.47977611C>G | CA384540515 | COL2A1 | c.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) | |
12 | g.47977611C>T | CA384540516 | COL2A1 | c.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) | |
12 | g.47977612A>C | CA479454227 | COL2A1 | c.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 |
12 | g.47977612A>G | CA479454229 | COL2A1 | c.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=) | |
12 | g.47977612A>T | CA479454231 | COL2A1 | c.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=) | |
12 | g.47977613G>A | CA384540517 | COL2A1 | c.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) | |
12 | g.47977613G>C | CA384540518 | COL2A1 | c.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 |
12 | g.47977613G>T | CA384540519 | COL2A1 | c.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) | |
12 | g.47977614C>A | CA384540520 | COL2A1 | c.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) | |
12 | g.47977614C= | CA2034476502 | COL2A1 | c.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=) | |
12 | g.47977614C>G | CA384540521 | COL2A1 | c.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 |
12 | g.47977614C>T | CA6534867 | COL2A1 | c.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 |
12 | g.47977615G>A | CA6534868 | COL2A1 | c.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 |
12 | g.47977615G>C | CA479454243 | COL2A1 | c.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=) | |
12 | g.47977615G= | CA2034476503 | COL2A1 | c.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=) | |
12 | g.47977615G>T | CA479454245 | COL2A1 | c.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=) | |
12 | g.47977616C>A | CA384540522 | COL2A1 | c.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 |
12 | g.47977616C= | CA2034476504 | COL2A1 | c.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=) | |
12 | g.47977616C>G | CA384540523 | COL2A1 | c.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) | |
12 | g.47977616C>T | CA384540524 | COL2A1 | c.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 |
12 | g.47977617C>A | CA384540525 | COL2A1 | c.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) | |
12 | g.47977617C>G | CA384540526 | COL2A1 | c.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) | |
12 | g.47977617C>T | CA384540527 | COL2A1 | c.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) | |
12 | g.47977618A= | CA2034476505 | COL2A1 | c.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=) | |
12 | g.47977618A>C | CA384540528 | COL2A1 | c.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) | |
12 | g.47977618A>G | CA479454258 | COL2A1 | c.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 |
12 | g.47977618A>T | CA384540529 | COL2A1 | c.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) | |
12 | g.47977619T>A | CA384540530 | COL2A1 | c.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) | |
12 | g.47977619T>C | CA384540531 | COL2A1 | c.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 |
12 | g.47977619T>G | CA384540532 | COL2A1 | c.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) | |
12 | g.47977619T= | CA2034476506 | COL2A1 | c.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=) | |
12 | g.47977620C>A | CA384540533 | COL2A1 | c.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) | |
12 | g.47977620C= | CA2034476507 | COL2A1 | c.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=) | |
12 | g.47977620C>G | CA384540534 | COL2A1 | c.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) | |
12 | g.47977620C>T | CA6534869 | COL2A1 | c.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 |
12 | g.47977621T>A | CA6534870 | COL2A1 | c.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 |
12 | g.47977621T>C | CA479454271 | COL2A1 | c.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 |
12 | g.47977621T>G | CA384540535 | COL2A1 | c.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) | |
12 | g.47977621T= | CA2034476508 | COL2A1 | c.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=) | |
12 | g.47977622C>A | CA384540536 | COL2A1 | c.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) | |
12 | g.47977622C>G | CA384540537 | COL2A1 | c.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) | |
12 | g.47977622C>T | CA384540538 | COL2A1 | c.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 |
12 | g.47977623T>A | CA384540539 | COL2A1 | c.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) | |
12 | g.47977623T>C | CA384540540 | COL2A1 | c.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) | |
12 | g.47977623T>G | CA479454281 | COL2A1 | c.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=) | |
12 | g.47977624G>A | CA479454283 | COL2A1 | c.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=) | |
12 | g.47977624G>C | CA479454285 | COL2A1 | c.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=) | |
12 | g.47977624G>T | CA479454288 | COL2A1 | c.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=) | |
12 | g.47977625C>A | CA384540541 | COL2A1 | c.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) | |
12 | g.47977625C>G | CA384540542 | COL2A1 | c.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) | |
12 | g.47977625C>T | CA384540543 | COL2A1 | c.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) | |
12 | g.47977626C>A | CA384540544 | COL2A1 | c.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) | |
12 | g.47977626C= | CA2034476509 | COL2A1 | c.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=) | |
12 | g.47977626C>G | CA384540545 | COL2A1 | c.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) | |
12 | g.47977626C>T | CA384540546 | COL2A1 | c.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 |
12 | g.47977626_47977627delinsCA | CA2034476510 | COL2A1 | c.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=) | |
12 | g.47977627del | CA281745 | COL2A1 | c.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 |
12 | g.47977627A>C | CA479454301 | COL2A1 | c.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=) | |
12 | g.47977627A>G | CA479454298 | COL2A1 | c.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=) | |
12 | g.47977627A>T | CA479454299 | COL2A1 | c.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=) | |
12 | g.47977627_47977628delinsAG | CA2034476511 | COL2A1 | c.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=) | |
12 | g.47977628G>A | CA384540548 | COL2A1 | c.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 |
12 | g.47977628G>C | CA6534871 | COL2A1 | c.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 |
12 | g.47977628G= | CA2034476512 | COL2A1 | c.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=) | |
12 | g.47977628G>T | CA384540547 | COL2A1 | c.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) | |
12 | g.47977633dup | CA2529301832 | COL2A1 | c.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 |
12 | g.47977633del | CA1139662612 | COL2A1 | c.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 |
12 | g.47977629G>A | CA384540549 | COL2A1 | c.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 |
12 | g.47977629G>C | CA6534872 | COL2A1 | c.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 |
12 | g.47977629G= | CA2034476513 | COL2A1 | c.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=) | |
12 | g.47977629G>T | CA384540550 | COL2A1 | c.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) | |
12 | g.47977630G>A | CA479454313 | COL2A1 | c.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=) | |
12 | g.47977630G>C | CA479454312 | COL2A1 | c.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=) | |
12 | g.47977630G>T | CA479454310 | COL2A1 | c.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=) | |
12 | g.47977631G>A | CA384540551 | COL2A1 | c.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 |
12 | g.47977631G>C | CA384540552 | COL2A1 | c.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) | |
12 | g.47977631G= | CA2034476514 | COL2A1 | c.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=) | |
12 | g.47977631G>T | CA384540553 | COL2A1 | c.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) | |
12 | g.47977632G>A | CA384540554 | COL2A1 | c.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 |
12 | g.47977632G>C | CA6534873 | COL2A1 | c.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 |
12 | g.47977632G= | CA2034476515 | COL2A1 | c.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=) | |
12 | g.47977632G>T | CA384540555 | COL2A1 | c.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 |
12 | g.47977633G>A | CA479454324 | COL2A1 | c.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 |
12 | g.47977633G>C | CA6534874 | COL2A1 | c.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 |
12 | g.47977633G= | CA2034476516 | COL2A1 | c.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=) | |
12 | g.47977633G>T | CA479454322 | COL2A1 | c.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 |
12 | g.47977634C>A | CA384540556 | COL2A1 | c.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) | |
12 | g.47977634C= | CA2034476517 | COL2A1 | c.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=) | |
12 | g.47977634C>G | CA384540557 | COL2A1 | c.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 |
12 | g.47977634C>T | CA384540558 | COL2A1 | c.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) | |
12 | g.47977635del | CA2580085504 | COL2A1 | c.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 |
12 | g.47977635C>A | CA384540559 | COL2A1 | c.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) | |
12 | g.47977635C>G | CA384540561 | COL2A1 | c.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) | |
12 | g.47977635C>T | CA384540560 | COL2A1 | c.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 |
12 | g.47977636A>C | CA384540562 | COL2A1 | c.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) | |
12 | g.47977636A>G | CA479454334 | COL2A1 | c.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 |
12 | g.47977636A>T | CA384540563 | COL2A1 | c.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) | |
12 | g.47977637T>A | CA384540564 | COL2A1 | c.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) | |
12 | g.47977637T>C | CA384540566 | COL2A1 | c.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) | |
12 | g.47977637T>G | CA384540565 | COL2A1 | c.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) | |
12 | g.47977638C>A | CA384540567 | COL2A1 | c.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) | |
12 | g.47977638C>G | CA384540568 | COL2A1 | c.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) | |
12 | g.47977638C>T | CA384540569 | COL2A1 | c.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) | |
12 | g.47977639A>C | CA479454344 | COL2A1 | c.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=) | |
12 | g.47977639A>G | CA479454346 | COL2A1 | c.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=) | |
12 | g.47977639A>T | CA479454347 | COL2A1 | c.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=) | |
12 | g.47977640G>A | CA384540570 | COL2A1 | c.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) | |
12 | g.47977640G>C | CA384540571 | COL2A1 | c.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) | |
12 | g.47977640G>T | CA384540572 | COL2A1 | c.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) | |
12 | g.47977640_47977643dup | CA2499221657 | COL2A1 | c.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 |
12 | g.47977641C>A | CA384540573 | COL2A1 | c.2917G>T (p.Ala973Ser) c.3124G>T (p.Ala1042Ser) n.2210G>T c.3268G>T (p.Ala1090Ser) c.3265G>T (p.Ala1089Ser) c.2212G>T (p.Ala738Ser) c.3058G>T (p.Ala1020Ser) c.2578G>T (p.Ala860Ser) | |
12 | g.47977641C>G | CA384540574 | COL2A1 | c.2917G>C (p.Ala973Pro) c.3124G>C (p.Ala1042Pro) n.2210G>C c.3268G>C (p.Ala1090Pro) c.3265G>C (p.Ala1089Pro) c.2212G>C (p.Ala738Pro) c.3058G>C (p.Ala1020Pro) c.2578G>C (p.Ala860Pro) | |
12 | g.47977641C>T | CA384540575 | COL2A1 | c.2917G>A (p.Ala973Thr) c.3124G>A (p.Ala1042Thr) n.2210G>A c.3268G>A (p.Ala1090Thr) c.3265G>A (p.Ala1089Thr) c.2212G>A (p.Ala738Thr) c.3058G>A (p.Ala1020Thr) c.2578G>A (p.Ala860Thr) | |
12 | g.47977642A= | CA2034476518 | COL2A1 | c.2916T= (p.Gly972=) c.3123T= (p.Gly1041=) n.2209T= c.3267T= (p.Gly1089=) c.3264T= (p.Gly1088=) c.2211T= (p.Gly737=) c.3057T= (p.Gly1019=) c.2577T= (p.Gly859=) | |
12 | g.47977642A>C | CA479454357 | COL2A1 | c.2916T>G (p.Gly972=) c.3123T>G (p.Gly1041=) n.2209T>G c.3267T>G (p.Gly1089=) c.3264T>G (p.Gly1088=) c.2211T>G (p.Gly737=) c.3057T>G (p.Gly1019=) c.2577T>G (p.Gly859=) | ClinVar dbSNP |
12 | g.47977642A>G | CA479454358 | COL2A1 | c.2916T>C (p.Gly972=) c.3123T>C (p.Gly1041=) n.2209T>C c.3267T>C (p.Gly1089=) c.3264T>C (p.Gly1088=) c.2211T>C (p.Gly737=) c.3057T>C (p.Gly1019=) c.2577T>C (p.Gly859=) | |
12 | g.47977642A>T | CA6534875 | COL2A1 | c.2916T>A (p.Gly972=) c.3123T>A (p.Gly1041=) n.2209T>A c.3267T>A (p.Gly1089=) c.3264T>A (p.Gly1088=) c.2211T>A (p.Gly737=) c.3057T>A (p.Gly1019=) c.2577T>A (p.Gly859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977643C>A | CA384540578 | COL2A1 | c.2915G>T (p.Gly972Val) c.3122G>T (p.Gly1041Val) n.2208G>T c.3266G>T (p.Gly1089Val) c.3263G>T (p.Gly1088Val) c.2210G>T (p.Gly737Val) c.3056G>T (p.Gly1019Val) c.2576G>T (p.Gly859Val) | |
12 | g.47977643C>G | CA384540577 | COL2A1 | c.2915G>C (p.Gly972Ala) c.3122G>C (p.Gly1041Ala) n.2208G>C c.3266G>C (p.Gly1089Ala) c.3263G>C (p.Gly1088Ala) c.2210G>C (p.Gly737Ala) c.3056G>C (p.Gly1019Ala) c.2576G>C (p.Gly859Ala) | |
12 | g.47977643C>T | CA384540576 | COL2A1 | c.2915G>A (p.Gly972Asp) c.3122G>A (p.Gly1041Asp) n.2208G>A c.3266G>A (p.Gly1089Asp) c.3263G>A (p.Gly1088Asp) c.2210G>A (p.Gly737Asp) c.3056G>A (p.Gly1019Asp) c.2576G>A (p.Gly859Asp) | |
12 | g.47977644del | CA2573148624 | COL2A1 | c.2915del (p.Gly972ValfsTer?) c.3122del (p.Gly1041ValfsTer?) n.2208del c.3266del (p.Gly1089ValfsTer?) c.3263del (p.Gly1088ValfsTer?) c.2210del (p.Gly737ValfsTer?) c.3056del (p.Gly1019ValfsTer?) c.2576del (p.Gly859ValfsTer?) | ClinVar dbSNP |
12 | g.47977644C>A | CA384540579 | COL2A1 | c.2914G>T (p.Gly972Cys) c.3121G>T (p.Gly1041Cys) n.2207G>T c.3265G>T (p.Gly1089Cys) c.3262G>T (p.Gly1088Cys) c.2209G>T (p.Gly737Cys) c.3055G>T (p.Gly1019Cys) c.2575G>T (p.Gly859Cys) | |
12 | g.47977644C>G | CA384540580 | COL2A1 | c.2914G>C (p.Gly972Arg) c.3121G>C (p.Gly1041Arg) n.2207G>C c.3265G>C (p.Gly1089Arg) c.3262G>C (p.Gly1088Arg) c.2209G>C (p.Gly737Arg) c.3055G>C (p.Gly1019Arg) c.2575G>C (p.Gly859Arg) | |
12 | g.47977644C>T | CA384540581 | COL2A1 | c.2914G>A (p.Gly972Ser) c.3121G>A (p.Gly1041Ser) n.2207G>A c.3265G>A (p.Gly1089Ser) c.3262G>A (p.Gly1088Ser) c.2209G>A (p.Gly737Ser) c.3055G>A (p.Gly1019Ser) c.2575G>A (p.Gly859Ser) | ClinVar dbSNP |
12 | g.47977645G>A | CA236521255 | COL2A1 | c.2913C>T (p.Pro971=) c.3120C>T (p.Pro1040=) n.2206C>T c.3264C>T (p.Pro1088=) c.3261C>T (p.Pro1087=) c.2208C>T (p.Pro736=) c.3054C>T (p.Pro1018=) c.2574C>T (p.Pro858=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47977645G>C | CA479454368 | COL2A1 | c.2913C>G (p.Pro971=) c.3120C>G (p.Pro1040=) n.2206C>G c.3264C>G (p.Pro1088=) c.3261C>G (p.Pro1087=) c.2208C>G (p.Pro736=) c.3054C>G (p.Pro1018=) c.2574C>G (p.Pro858=) | |
12 | g.47977645G= | CA2034476519 | COL2A1 | c.2913C= (p.Pro971=) c.3120C= (p.Pro1040=) n.2206C= c.3264C= (p.Pro1088=) c.3261C= (p.Pro1087=) c.2208C= (p.Pro736=) c.3054C= (p.Pro1018=) c.2574C= (p.Pro858=) | |
12 | g.47977645G>T | CA479454371 | COL2A1 | c.2913C>A (p.Pro971=) c.3120C>A (p.Pro1040=) n.2206C>A c.3264C>A (p.Pro1088=) c.3261C>A (p.Pro1087=) c.2208C>A (p.Pro736=) c.3054C>A (p.Pro1018=) c.2574C>A (p.Pro858=) | |
12 | g.47977646G>A | CA236521259 | COL2A1 | c.2912C>T (p.Pro971Leu) c.3119C>T (p.Pro1040Leu) n.2205C>T c.3263C>T (p.Pro1088Leu) c.3260C>T (p.Pro1087Leu) c.2207C>T (p.Pro736Leu) c.3053C>T (p.Pro1018Leu) c.2573C>T (p.Pro858Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47977646G>C | CA384540582 | COL2A1 | c.2912C>G (p.Pro971Arg) c.3119C>G (p.Pro1040Arg) n.2205C>G c.3263C>G (p.Pro1088Arg) c.3260C>G (p.Pro1087Arg) c.2207C>G (p.Pro736Arg) c.3053C>G (p.Pro1018Arg) c.2573C>G (p.Pro858Arg) | |
12 | g.47977646G= | CA2034476520 | COL2A1 | c.2912C= (p.Pro971=) c.3119C= (p.Pro1040=) n.2205C= c.3263C= (p.Pro1088=) c.3260C= (p.Pro1087=) c.2207C= (p.Pro736=) c.3053C= (p.Pro1018=) c.2573C= (p.Pro858=) | |
12 | g.47977646G>T | CA384540583 | COL2A1 | c.2912C>A (p.Pro971His) c.3119C>A (p.Pro1040His) n.2205C>A c.3263C>A (p.Pro1088His) c.3260C>A (p.Pro1087His) c.2207C>A (p.Pro736His) c.3053C>A (p.Pro1018His) c.2573C>A (p.Pro858His) | |
12 | g.47977647G>A | CA6534876 | COL2A1 | c.2911C>T (p.Pro971Ser) c.3118C>T (p.Pro1040Ser) n.2204C>T c.3262C>T (p.Pro1088Ser) c.3259C>T (p.Pro1087Ser) c.2206C>T (p.Pro736Ser) c.3052C>T (p.Pro1018Ser) c.2572C>T (p.Pro858Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47977647G>C | CA384540584 | COL2A1 | c.2911C>G (p.Pro971Ala) c.3118C>G (p.Pro1040Ala) n.2204C>G c.3262C>G (p.Pro1088Ala) c.3259C>G (p.Pro1087Ala) c.2206C>G (p.Pro736Ala) c.3052C>G (p.Pro1018Ala) c.2572C>G (p.Pro858Ala) | |
12 | g.47977647G= | CA2034476521 | COL2A1 | c.2911C= (p.Pro971=) c.3118C= (p.Pro1040=) n.2204C= c.3262C= (p.Pro1088=) c.3259C= (p.Pro1087=) c.2206C= (p.Pro736=) c.3052C= (p.Pro1018=) c.2572C= (p.Pro858=) | |
12 | g.47977647G>T | CA384540585 | COL2A1 | c.2911C>A (p.Pro971Thr) c.3118C>A (p.Pro1040Thr) n.2204C>A c.3262C>A (p.Pro1088Thr) c.3259C>A (p.Pro1087Thr) c.2206C>A (p.Pro736Thr) c.3052C>A (p.Pro1018Thr) c.2572C>A (p.Pro858Thr) |