| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47973379G>A | CA6534443 | COL2A1 | c.*28C>T (n.*28C>T) n.3578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47973379G= | CA2034470461 | COL2A1 | c.*28C= (n.*28C=) n.3578C= | |
| 12 | g.47973382T>C | CA2034470465 | COL2A1 | c.*25A>G (n.*25A>G) n.3575A>G | dbSNP |
| 12 | g.47973382T>G | CA6534444 | COL2A1 | c.*25A>C (n.*25A>C) n.3575A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47973382T= | CA2034470464 | COL2A1 | c.*25A= (n.*25A=) n.3575A= | |
| 12 | g.47973383T>A | CA2618502788 | COL2A1 | c.*24A>T (n.*24A>T) n.3574A>T | gnomAD v4 |
| 12 | g.47973383T>C | CA6534445 | COL2A1 | c.*24A>G (n.*24A>G) n.3574A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47973383T= | CA2034470471 | COL2A1 | c.*24A= (n.*24A=) n.3574A= | |
| 12 | g.47973384G= | CA2034470474 | COL2A1 | c.*23C= (n.*23C=) n.3573C= | |
| 12 | g.47973384G>T | CA2034470476 | COL2A1 | c.*23C>A (n.*23C>A) n.3573C>A | dbSNP gnomAD v4 |
| 12 | g.47973389_47973391del | CA2618502832 | COL2A1 | c.*20_*22del (n.*20_*22del) n.3570_3572del | gnomAD v4 |
| 12 | g.47973387T>C | CA2034470478 | COL2A1 | c.*20A>G (n.*20A>G) n.3570A>G | dbSNP |
| 12 | g.47973387T= | CA2034470477 | COL2A1 | c.*20A= (n.*20A=) n.3570A= | |
| 12 | g.47973388T>C | CA236515449 | COL2A1 | c.*19A>G (n.*19A>G) n.3569A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47973388T= | CA2034470481 | COL2A1 | c.*19A= (n.*19A=) n.3569A= | |
| 12 | g.47973389G>A | CA2618502835 | COL2A1 | c.*18C>T (n.*18C>T) n.3568C>T | gnomAD v4 |
| 12 | g.47973389G= | CA2034470483 | COL2A1 | c.*18C= (n.*18C=) n.3568C= | |
| 12 | g.47973389G>T | CA236515458 | COL2A1 | c.*18C>A (n.*18C>A) n.3568C>A | dbSNP gnomAD v4 |
| 12 | g.47973390T>G | CA2575137230 | COL2A1 | c.*17A>C (n.*17A>C) n.3567A>C | |
| 12 | g.47973392T>C | CA689461515 | COL2A1 | c.*15A>G (n.*15A>G) n.3565A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47973392T= | CA2034470487 | COL2A1 | c.*15A= (n.*15A=) n.3565A= | |
| 12 | g.47973396G>A | CA2034470492 | COL2A1 | c.*11C>T (n.*11C>T) n.3561C>T | dbSNP |
| 12 | g.47973396G>C | CA6534446 | COL2A1 | c.*11C>G (n.*11C>G) n.3561C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47973396G= | CA2034470490 | COL2A1 | c.*11C= (n.*11C=) n.3561C= | |
| 12 | g.47973399T>C | CA2618502842 | COL2A1 | c.*8A>G (n.*8A>G) n.3558A>G | gnomAD v4 |
| 12 | g.47973399T>G | CA2034470495 | COL2A1 | c.*8A>C (n.*8A>C) n.3558A>C | dbSNP |
| 12 | g.47973399T= | CA2034470494 | COL2A1 | c.*8A= (n.*8A=) n.3558A= | |
| 12 | g.47973400C= | CA2034470497 | COL2A1 | c.*7G= (n.*7G=) n.3557G= | |
| 12 | g.47973400C>T | CA2034470498 | COL2A1 | c.*7G>A (n.*7G>A) n.3557G>A | dbSNP gnomAD v4 |
| 12 | g.47973401A= | CA2034470501 | COL2A1 | c.*6T= (n.*6T=) n.3556T= | |
| 12 | g.47973401A>C | CA604847995 | COL2A1 | c.*6T>G (n.*6T>G) n.3556T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47973401A>G | CA2575137231 | COL2A1 | c.*6T>C (n.*6T>C) n.3556T>C | |
| 12 | g.47973402G>A | CA2618502848 | COL2A1 | c.*5C>T (n.*5C>T) n.3555C>T | gnomAD v4 |
| 12 | g.47973403G>A | CA6534447 | COL2A1 | c.*4C>T (n.*4C>T) n.3554C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47973403G>C | CA604847999 | COL2A1 | c.*4C>G (n.*4C>G) n.3554C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47973403G= | CA2034470505 | COL2A1 | c.*4C= (n.*4C=) n.3554C= | |
| 12 | g.47973403G>T | CA2581085762 | COL2A1 | c.*4C>A (n.*4C>A) n.3554C>A | |
| 12 | g.47973404T>C | CA6534448 | COL2A1 | c.*3A>G (n.*3A>G) n.3553A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47973404T= | CA2034470511 | COL2A1 | c.*3A= (n.*3A=) n.3553A= | |
| 12 | g.47973407T>A | CA384533061 | COL2A1 | c.4257A>T (p.Ter1419Tyr) c.4464A>T (p.Ter1488Tyr) n.3550A>T c.4608A>T (p.Ter1536Tyr) c.4605A>T (p.Ter1535Tyr) c.3552A>T (p.Ter1184Tyr) c.4398A>T (p.Ter1466Tyr) c.3918A>T (p.Ter1306Tyr) | ClinVar |
| 12 | g.47973407T>C | CA479449195 | COL2A1 | c.4257A>G (p.Ter1419=) c.4464A>G (p.Ter1488=) n.3550A>G c.4608A>G (p.Ter1536=) c.4605A>G (p.Ter1535=) c.3552A>G (p.Ter1184=) c.4398A>G (p.Ter1466=) c.3918A>G (p.Ter1306=) | |
| 12 | g.47973407T>G | CA384533062 | COL2A1 | c.4257A>C (p.Ter1419Tyr) c.4464A>C (p.Ter1488Tyr) n.3550A>C c.4608A>C (p.Ter1536Tyr) c.4605A>C (p.Ter1535Tyr) c.3552A>C (p.Ter1184Tyr) c.4398A>C (p.Ter1466Tyr) c.3918A>C (p.Ter1306Tyr) | |
| 12 | g.47973408T>A | CA384533063 | COL2A1 | c.4256A>T (p.Ter1419Leu) c.4463A>T (p.Ter1488Leu) n.3549A>T c.4607A>T (p.Ter1536Leu) c.4604A>T (p.Ter1535Leu) c.3551A>T (p.Ter1184Leu) c.4397A>T (p.Ter1466Leu) c.3917A>T (p.Ter1306Leu) | |
| 12 | g.47973408T>C | CA479449196 | COL2A1 | c.4256A>G (p.Ter1419=) c.4463A>G (p.Ter1488=) n.3549A>G c.4607A>G (p.Ter1536=) c.4604A>G (p.Ter1535=) c.3551A>G (p.Ter1184=) c.4397A>G (p.Ter1466=) c.3917A>G (p.Ter1306=) | dbSNP gnomAD v4 |
| 12 | g.47973408T>G | CA384533064 | COL2A1 | c.4256A>C (p.Ter1419Ser) c.4463A>C (p.Ter1488Ser) n.3549A>C c.4607A>C (p.Ter1536Ser) c.4604A>C (p.Ter1535Ser) c.3551A>C (p.Ter1184Ser) c.4397A>C (p.Ter1466Ser) c.3917A>C (p.Ter1306Ser) | ClinVar |
| 12 | g.47973408T= | CA2034470516 | COL2A1 | c.4256A= (p.Ter1419=) c.4463A= (p.Ter1488=) n.3549A= c.4607A= (p.Ter1536=) c.4604A= (p.Ter1535=) c.3551A= (p.Ter1184=) c.4397A= (p.Ter1466=) c.3917A= (p.Ter1306=) | |
| 12 | g.47973409del | CA2695216605 | COL2A1 | c.4255del (p.Ter1419=) c.4462del (p.Ter1488LysextTer26) n.3548del c.4255del (p.Ter1419LysextTer26) c.4606del (p.Ter1536LysextTer26) c.4603del (p.Ter1535LysextTer26) c.3550del (p.Ter1184LysextTer26) c.4396del (p.Ter1466LysextTer26) c.3916del (p.Ter1306LysextTer26) | |
| 12 | g.47973409A>C | CA384533065 | COL2A1 | c.4255T>G (p.Ter1419Glu) c.4462T>G (p.Ter1488Glu) n.3548T>G c.4606T>G (p.Ter1536Glu) c.4603T>G (p.Ter1535Glu) c.3550T>G (p.Ter1184Glu) c.4396T>G (p.Ter1466Glu) c.3916T>G (p.Ter1306Glu) | ClinVar |
| 12 | g.47973409A>G | CA384533066 | COL2A1 | c.4255T>C (p.Ter1419Gln) c.4462T>C (p.Ter1488Gln) n.3548T>C c.4606T>C (p.Ter1536Gln) c.4603T>C (p.Ter1535Gln) c.3550T>C (p.Ter1184Gln) c.4396T>C (p.Ter1466Gln) c.3916T>C (p.Ter1306Gln) | ClinVar |
| 12 | g.47973409A>T | CA384533067 | COL2A1 | c.4255T>A (p.Ter1419Lys) c.4462T>A (p.Ter1488Lys) n.3548T>A c.4606T>A (p.Ter1536Lys) c.4603T>A (p.Ter1535Lys) c.3550T>A (p.Ter1184Lys) c.4396T>A (p.Ter1466Lys) c.3916T>A (p.Ter1306Lys) | ClinVar |