UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974262A>C | CA384533770 | COL2A1 | c.3937T>G (p.Ser1313Ala) c.4144T>G (p.Ser1382Ala) n.3230T>G c.4288T>G (p.Ser1430Ala) c.4285T>G (p.Ser1429Ala) c.3232T>G (p.Ser1078Ala) c.4078T>G (p.Ser1360Ala) c.3598T>G (p.Ser1200Ala) | |
| 12 | g.47974262A>G | CA384533771 | COL2A1 | c.3937T>C (p.Ser1313Pro) c.4144T>C (p.Ser1382Pro) n.3230T>C c.4288T>C (p.Ser1430Pro) c.4285T>C (p.Ser1429Pro) c.3232T>C (p.Ser1078Pro) c.4078T>C (p.Ser1360Pro) c.3598T>C (p.Ser1200Pro) | |
| 12 | g.47974262A>T | CA384533772 | COL2A1 | c.3937T>A (p.Ser1313Thr) c.4144T>A (p.Ser1382Thr) n.3230T>A c.4288T>A (p.Ser1430Thr) c.4285T>A (p.Ser1429Thr) c.3232T>A (p.Ser1078Thr) c.4078T>A (p.Ser1360Thr) c.3598T>A (p.Ser1200Thr) | |
| 12 | g.47974263C>A | CA479450225 | COL2A1 | c.3936G>T (p.Leu1312=) c.4143G>T (p.Leu1381=) n.3229G>T c.4287G>T (p.Leu1429=) c.4284G>T (p.Leu1428=) c.3231G>T (p.Leu1077=) c.4077G>T (p.Leu1359=) c.3597G>T (p.Leu1199=) | dbSNP |
| 12 | g.47974263C>G | CA479450227 | COL2A1 | c.3936G>C (p.Leu1312=) c.4143G>C (p.Leu1381=) n.3229G>C c.4287G>C (p.Leu1429=) c.4284G>C (p.Leu1428=) c.3231G>C (p.Leu1077=) c.4077G>C (p.Leu1359=) c.3597G>C (p.Leu1199=) | |
| 12 | g.47974263C>T | CA479450228 | COL2A1 | c.3936G>A (p.Leu1312=) c.4143G>A (p.Leu1381=) n.3229G>A c.4287G>A (p.Leu1429=) c.4284G>A (p.Leu1428=) c.3231G>A (p.Leu1077=) c.4077G>A (p.Leu1359=) c.3597G>A (p.Leu1199=) | ClinVar dbSNP |
| 12 | g.47974263_47974264insTCTACGTCCGTGG | CA2580085611 | COL2A1 | c.3935_3936insCCACGGACGTAGA (p.Ser1313HisfsTer?) c.4142_4143insCCACGGACGTAGA (p.Ser1382HisfsTer?) n.3228_3229insCCACGGACGTAGA c.4286_4287insCCACGGACGTAGA (p.Ser1430HisfsTer?) c.4283_4284insCCACGGACGTAGA (p.Ser1429HisfsTer?) c.3230_3231insCCACGGACGTAGA (p.Ser1078HisfsTer?) c.4076_4077insCCACGGACGTAGA (p.Ser1360HisfsTer?) c.3596_3597insCCACGGACGTAGA (p.Ser1200HisfsTer?) | ClinVar |
| 12 | g.47974264A>C | CA384533773 | COL2A1 | c.3935T>G (p.Leu1312Arg) c.4142T>G (p.Leu1381Arg) n.3228T>G c.4286T>G (p.Leu1429Arg) c.4283T>G (p.Leu1428Arg) c.3230T>G (p.Leu1077Arg) c.4076T>G (p.Leu1359Arg) c.3596T>G (p.Leu1199Arg) | |
| 12 | g.47974264A>G | CA384533774 | COL2A1 | c.3935T>C (p.Leu1312Pro) c.4142T>C (p.Leu1381Pro) n.3228T>C c.4286T>C (p.Leu1429Pro) c.4283T>C (p.Leu1428Pro) c.3230T>C (p.Leu1077Pro) c.4076T>C (p.Leu1359Pro) c.3596T>C (p.Leu1199Pro) | |
| 12 | g.47974264A>T | CA384533775 | COL2A1 | c.3935T>A (p.Leu1312Gln) c.4142T>A (p.Leu1381Gln) n.3228T>A c.4286T>A (p.Leu1429Gln) c.4283T>A (p.Leu1428Gln) c.3230T>A (p.Leu1077Gln) c.4076T>A (p.Leu1359Gln) c.3596T>A (p.Leu1199Gln) | |
| 12 | g.47974265G>A | CA6534526 | COL2A1 | c.3934C>T (p.Leu1312=) c.4141C>T (p.Leu1381=) n.3227C>T c.4285C>T (p.Leu1429=) c.4282C>T (p.Leu1428=) c.3229C>T (p.Leu1077=) c.4075C>T (p.Leu1359=) c.3595C>T (p.Leu1199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974265G>C | CA384533777 | COL2A1 | c.3934C>G (p.Leu1312Val) c.4141C>G (p.Leu1381Val) n.3227C>G c.4285C>G (p.Leu1429Val) c.4282C>G (p.Leu1428Val) c.3229C>G (p.Leu1077Val) c.4075C>G (p.Leu1359Val) c.3595C>G (p.Leu1199Val) | |
| 12 | g.47974265G= | CA2034471850 | COL2A1 | c.3934C= (p.Leu1312=) c.4141C= (p.Leu1381=) n.3227C= c.4285C= (p.Leu1429=) c.4282C= (p.Leu1428=) c.3229C= (p.Leu1077=) c.4075C= (p.Leu1359=) c.3595C= (p.Leu1199=) | |
| 12 | g.47974265G>T | CA384533776 | COL2A1 | c.3934C>A (p.Leu1312Met) c.4141C>A (p.Leu1381Met) n.3227C>A c.4285C>A (p.Leu1429Met) c.4282C>A (p.Leu1428Met) c.3229C>A (p.Leu1077Met) c.4075C>A (p.Leu1359Met) c.3595C>A (p.Leu1199Met) | |
| 12 | g.47974266del | CA2695216613 | COL2A1 | c.3933del (p.Leu1312CysfsTer?) c.4140del (p.Leu1381CysfsTer?) n.3226del c.4284del (p.Leu1429CysfsTer?) c.4281del (p.Leu1428CysfsTer?) c.3228del (p.Leu1077CysfsTer?) c.4074del (p.Leu1359CysfsTer?) c.3594del (p.Leu1199CysfsTer?) | |
| 12 | g.47974266C>A | CA479450229 | COL2A1 | c.3933G>T (p.Leu1311=) c.4140G>T (p.Leu1380=) n.3226G>T c.4284G>T (p.Leu1428=) c.4281G>T (p.Leu1427=) c.3228G>T (p.Leu1076=) c.4074G>T (p.Leu1358=) c.3594G>T (p.Leu1198=) | |
| 12 | g.47974266C>G | CA479450230 | COL2A1 | c.3933G>C (p.Leu1311=) c.4140G>C (p.Leu1380=) n.3226G>C c.4284G>C (p.Leu1428=) c.4281G>C (p.Leu1427=) c.3228G>C (p.Leu1076=) c.4074G>C (p.Leu1358=) c.3594G>C (p.Leu1198=) | |
| 12 | g.47974266C>T | CA479450231 | COL2A1 | c.3933G>A (p.Leu1311=) c.4140G>A (p.Leu1380=) n.3226G>A c.4284G>A (p.Leu1428=) c.4281G>A (p.Leu1427=) c.3228G>A (p.Leu1076=) c.4074G>A (p.Leu1358=) c.3594G>A (p.Leu1198=) | |
| 12 | g.47974267A>C | CA384533778 | COL2A1 | c.3932T>G (p.Leu1311Arg) c.4139T>G (p.Leu1380Arg) n.3225T>G c.4283T>G (p.Leu1428Arg) c.4280T>G (p.Leu1427Arg) c.3227T>G (p.Leu1076Arg) c.4073T>G (p.Leu1358Arg) c.3593T>G (p.Leu1198Arg) | |
| 12 | g.47974267A>G | CA384533779 | COL2A1 | c.3932T>C (p.Leu1311Pro) c.4139T>C (p.Leu1380Pro) n.3225T>C c.4283T>C (p.Leu1428Pro) c.4280T>C (p.Leu1427Pro) c.3227T>C (p.Leu1076Pro) c.4073T>C (p.Leu1358Pro) c.3593T>C (p.Leu1198Pro) | |
| 12 | g.47974267A>T | CA384533780 | COL2A1 | c.3932T>A (p.Leu1311Gln) c.4139T>A (p.Leu1380Gln) n.3225T>A c.4283T>A (p.Leu1428Gln) c.4280T>A (p.Leu1427Gln) c.3227T>A (p.Leu1076Gln) c.4073T>A (p.Leu1358Gln) c.3593T>A (p.Leu1198Gln) | |
| 12 | g.47974268G>A | CA479450232 | COL2A1 | c.3931C>T (p.Leu1311=) c.4138C>T (p.Leu1380=) n.3224C>T c.4282C>T (p.Leu1428=) c.4279C>T (p.Leu1427=) c.3226C>T (p.Leu1076=) c.4072C>T (p.Leu1358=) c.3592C>T (p.Leu1198=) | |
| 12 | g.47974268G>C | CA384533781 | COL2A1 | c.3931C>G (p.Leu1311Val) c.4138C>G (p.Leu1380Val) n.3224C>G c.4282C>G (p.Leu1428Val) c.4279C>G (p.Leu1427Val) c.3226C>G (p.Leu1076Val) c.4072C>G (p.Leu1358Val) c.3592C>G (p.Leu1198Val) | |
| 12 | g.47974268G>T | CA384533782 | COL2A1 | c.3931C>A (p.Leu1311Met) c.4138C>A (p.Leu1380Met) n.3224C>A c.4282C>A (p.Leu1428Met) c.4279C>A (p.Leu1427Met) c.3226C>A (p.Leu1076Met) c.4072C>A (p.Leu1358Met) c.3592C>A (p.Leu1198Met) | |
| 12 | g.47974269G>A | CA479450233 | COL2A1 | c.3930C>T (p.Arg1310=) c.4137C>T (p.Arg1379=) n.3223C>T c.4281C>T (p.Arg1427=) c.4278C>T (p.Arg1426=) c.3225C>T (p.Arg1075=) c.4071C>T (p.Arg1357=) c.3591C>T (p.Arg1197=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974269G>C | CA479450234 | COL2A1 | c.3930C>G (p.Arg1310=) c.4137C>G (p.Arg1379=) n.3223C>G c.4281C>G (p.Arg1427=) c.4278C>G (p.Arg1426=) c.3225C>G (p.Arg1075=) c.4071C>G (p.Arg1357=) c.3591C>G (p.Arg1197=) | |
| 12 | g.47974269G>T | CA479450235 | COL2A1 | c.3930C>A (p.Arg1310=) c.4137C>A (p.Arg1379=) n.3223C>A c.4281C>A (p.Arg1427=) c.4278C>A (p.Arg1426=) c.3225C>A (p.Arg1075=) c.4071C>A (p.Arg1357=) c.3591C>A (p.Arg1197=) | |
| 12 | g.47974270C>A | CA384533783 | COL2A1 | c.3929G>T (p.Arg1310Leu) c.4136G>T (p.Arg1379Leu) n.3222G>T c.4280G>T (p.Arg1427Leu) c.4277G>T (p.Arg1426Leu) c.3224G>T (p.Arg1075Leu) c.4070G>T (p.Arg1357Leu) c.3590G>T (p.Arg1197Leu) | |
| 12 | g.47974270C= | CA2034471855 | COL2A1 | c.3929G= (p.Arg1310=) c.4136G= (p.Arg1379=) n.3222G= c.4280G= (p.Arg1427=) c.4277G= (p.Arg1426=) c.3224G= (p.Arg1075=) c.4070G= (p.Arg1357=) c.3590G= (p.Arg1197=) | |
| 12 | g.47974270C>G | CA384533784 | COL2A1 | c.3929G>C (p.Arg1310Pro) c.4136G>C (p.Arg1379Pro) n.3222G>C c.4280G>C (p.Arg1427Pro) c.4277G>C (p.Arg1426Pro) c.3224G>C (p.Arg1075Pro) c.4070G>C (p.Arg1357Pro) c.3590G>C (p.Arg1197Pro) | |
| 12 | g.47974270C>T | CA6534527 | COL2A1 | c.3929G>A (p.Arg1310His) c.4136G>A (p.Arg1379His) n.3222G>A c.4280G>A (p.Arg1427His) c.4277G>A (p.Arg1426His) c.3224G>A (p.Arg1075His) c.4070G>A (p.Arg1357His) c.3590G>A (p.Arg1197His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974271G>A | CA6534529 | COL2A1 | c.3928C>T (p.Arg1310Cys) c.4135C>T (p.Arg1379Cys) n.3221C>T c.4279C>T (p.Arg1427Cys) c.4276C>T (p.Arg1426Cys) c.3223C>T (p.Arg1075Cys) c.4069C>T (p.Arg1357Cys) c.3589C>T (p.Arg1197Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974271G>C | CA384533785 | COL2A1 | c.3928C>G (p.Arg1310Gly) c.4135C>G (p.Arg1379Gly) n.3221C>G c.4279C>G (p.Arg1427Gly) c.4276C>G (p.Arg1426Gly) c.3223C>G (p.Arg1075Gly) c.4069C>G (p.Arg1357Gly) c.3589C>G (p.Arg1197Gly) | |
| 12 | g.47974271G= | CA2034471861 | COL2A1 | c.3928C= (p.Arg1310=) c.4135C= (p.Arg1379=) n.3221C= c.4279C= (p.Arg1427=) c.4276C= (p.Arg1426=) c.3223C= (p.Arg1075=) c.4069C= (p.Arg1357=) c.3589C= (p.Arg1197=) | |
| 12 | g.47974271G>T | CA6534528 | COL2A1 | c.3928C>A (p.Arg1310Ser) c.4135C>A (p.Arg1379Ser) n.3221C>A c.4279C>A (p.Arg1427Ser) c.4276C>A (p.Arg1426Ser) c.3223C>A (p.Arg1075Ser) c.4069C>A (p.Arg1357Ser) c.3589C>A (p.Arg1197Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974272T>A | CA479450236 | COL2A1 | c.3927A>T (p.Leu1309=) c.4134A>T (p.Leu1378=) n.3220A>T c.4278A>T (p.Leu1426=) c.4275A>T (p.Leu1425=) c.3222A>T (p.Leu1074=) c.4068A>T (p.Leu1356=) c.3588A>T (p.Leu1196=) | |
| 12 | g.47974272T>C | CA479450238 | COL2A1 | c.3927A>G (p.Leu1309=) c.4134A>G (p.Leu1378=) n.3220A>G c.4278A>G (p.Leu1426=) c.4275A>G (p.Leu1425=) c.3222A>G (p.Leu1074=) c.4068A>G (p.Leu1356=) c.3588A>G (p.Leu1196=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974272T>G | CA479450237 | COL2A1 | c.3927A>C (p.Leu1309=) c.4134A>C (p.Leu1378=) n.3220A>C c.4278A>C (p.Leu1426=) c.4275A>C (p.Leu1425=) c.3222A>C (p.Leu1074=) c.4068A>C (p.Leu1356=) c.3588A>C (p.Leu1196=) | |
| 12 | g.47974272T= | CA2034471867 | COL2A1 | c.3927A= (p.Leu1309=) c.4134A= (p.Leu1378=) n.3220A= c.4278A= (p.Leu1426=) c.4275A= (p.Leu1425=) c.3222A= (p.Leu1074=) c.4068A= (p.Leu1356=) c.3588A= (p.Leu1196=) | |
| 12 | g.47974272dup | CA2695216614 | COL2A1 | c.3927dup (p.Arg1310ThrfsTer?) c.4134dup (p.Arg1379ThrfsTer?) n.3220dup c.4278dup (p.Arg1427ThrfsTer?) c.4275dup (p.Arg1426ThrfsTer?) c.3222dup (p.Arg1075ThrfsTer?) c.4068dup (p.Arg1357ThrfsTer?) c.3588dup (p.Arg1197ThrfsTer?) | |
| 12 | g.47974273A>C | CA384533787 | COL2A1 | c.3926T>G (p.Leu1309Arg) c.4133T>G (p.Leu1378Arg) n.3219T>G c.4277T>G (p.Leu1426Arg) c.4274T>G (p.Leu1425Arg) c.3221T>G (p.Leu1074Arg) c.4067T>G (p.Leu1356Arg) c.3587T>G (p.Leu1196Arg) | |
| 12 | g.47974273A>G | CA384533788 | COL2A1 | c.3926T>C (p.Leu1309Pro) c.4133T>C (p.Leu1378Pro) n.3219T>C c.4277T>C (p.Leu1426Pro) c.4274T>C (p.Leu1425Pro) c.3221T>C (p.Leu1074Pro) c.4067T>C (p.Leu1356Pro) c.3587T>C (p.Leu1196Pro) | |
| 12 | g.47974273A>T | CA384533786 | COL2A1 | c.3926T>A (p.Leu1309Gln) c.4133T>A (p.Leu1378Gln) n.3219T>A c.4277T>A (p.Leu1426Gln) c.4274T>A (p.Leu1425Gln) c.3221T>A (p.Leu1074Gln) c.4067T>A (p.Leu1356Gln) c.3587T>A (p.Leu1196Gln) | ClinVar dbSNP |
| 12 | g.47974274G>A | CA479450239 | COL2A1 | c.3925C>T (p.Leu1309=) c.4132C>T (p.Leu1378=) n.3218C>T c.4276C>T (p.Leu1426=) c.4273C>T (p.Leu1425=) c.3220C>T (p.Leu1074=) c.4066C>T (p.Leu1356=) c.3586C>T (p.Leu1196=) | dbSNP |
| 12 | g.47974274G>C | CA384533790 | COL2A1 | c.3925C>G (p.Leu1309Val) c.4132C>G (p.Leu1378Val) n.3218C>G c.4276C>G (p.Leu1426Val) c.4273C>G (p.Leu1425Val) c.3220C>G (p.Leu1074Val) c.4066C>G (p.Leu1356Val) c.3586C>G (p.Leu1196Val) | |
| 12 | g.47974274G= | CA2034471871 | COL2A1 | c.3925C= (p.Leu1309=) c.4132C= (p.Leu1378=) n.3218C= c.4276C= (p.Leu1426=) c.4273C= (p.Leu1425=) c.3220C= (p.Leu1074=) c.4066C= (p.Leu1356=) c.3586C= (p.Leu1196=) | |
| 12 | g.47974274G>T | CA384533789 | COL2A1 | c.3925C>A (p.Leu1309Ile) c.4132C>A (p.Leu1378Ile) n.3218C>A c.4276C>A (p.Leu1426Ile) c.4273C>A (p.Leu1425Ile) c.3220C>A (p.Leu1074Ile) c.4066C>A (p.Leu1356Ile) c.3586C>A (p.Leu1196Ile) | COSMIC COSMIC |
| 12 | g.47974275G>A | CA236516100 | COL2A1 | c.3924C>T (p.Phe1308=) c.4131C>T (p.Phe1377=) n.3217C>T c.4275C>T (p.Phe1425=) c.4272C>T (p.Phe1424=) c.3219C>T (p.Phe1073=) c.4065C>T (p.Phe1355=) c.3585C>T (p.Phe1195=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.47974275G>C | CA6534530 | COL2A1 | c.3924C>G (p.Phe1308Leu) c.4131C>G (p.Phe1377Leu) n.3217C>G c.4275C>G (p.Phe1425Leu) c.4272C>G (p.Phe1424Leu) c.3219C>G (p.Phe1073Leu) c.4065C>G (p.Phe1355Leu) c.3585C>G (p.Phe1195Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974275G= | CA2034471875 | COL2A1 | c.3924C= (p.Phe1308=) c.4131C= (p.Phe1377=) n.3217C= c.4275C= (p.Phe1425=) c.4272C= (p.Phe1424=) c.3219C= (p.Phe1073=) c.4065C= (p.Phe1355=) c.3585C= (p.Phe1195=) | |
| 12 | g.47974275G>T | CA384533791 | COL2A1 | c.3924C>A (p.Phe1308Leu) c.4131C>A (p.Phe1377Leu) n.3217C>A c.4275C>A (p.Phe1425Leu) c.4272C>A (p.Phe1424Leu) c.3219C>A (p.Phe1073Leu) c.4065C>A (p.Phe1355Leu) c.3585C>A (p.Phe1195Leu) | |
| 12 | g.47974276A= | CA2034471880 | COL2A1 | c.3923T= (p.Phe1308=) c.4130T= (p.Phe1377=) n.3216T= c.4274T= (p.Phe1425=) c.4271T= (p.Phe1424=) c.3218T= (p.Phe1073=) c.4064T= (p.Phe1355=) c.3584T= (p.Phe1195=) | |
| 12 | g.47974276A>C | CA384533792 | COL2A1 | c.3923T>G (p.Phe1308Cys) c.4130T>G (p.Phe1377Cys) n.3216T>G c.4274T>G (p.Phe1425Cys) c.4271T>G (p.Phe1424Cys) c.3218T>G (p.Phe1073Cys) c.4064T>G (p.Phe1355Cys) c.3584T>G (p.Phe1195Cys) | |
| 12 | g.47974276A>G | CA384533793 | COL2A1 | c.3923T>C (p.Phe1308Ser) c.4130T>C (p.Phe1377Ser) n.3216T>C c.4274T>C (p.Phe1425Ser) c.4271T>C (p.Phe1424Ser) c.3218T>C (p.Phe1073Ser) c.4064T>C (p.Phe1355Ser) c.3584T>C (p.Phe1195Ser) | dbSNP |
| 12 | g.47974276A>T | CA384533794 | COL2A1 | c.3923T>A (p.Phe1308Tyr) c.4130T>A (p.Phe1377Tyr) n.3216T>A c.4274T>A (p.Phe1425Tyr) c.4271T>A (p.Phe1424Tyr) c.3218T>A (p.Phe1073Tyr) c.4064T>A (p.Phe1355Tyr) c.3584T>A (p.Phe1195Tyr) | |
| 12 | g.47974277A>C | CA384533795 | COL2A1 | c.3922T>G (p.Phe1308Val) c.4129T>G (p.Phe1377Val) n.3215T>G c.4273T>G (p.Phe1425Val) c.4270T>G (p.Phe1424Val) c.3217T>G (p.Phe1073Val) c.4063T>G (p.Phe1355Val) c.3583T>G (p.Phe1195Val) | |
| 12 | g.47974277A>G | CA384533796 | COL2A1 | c.3922T>C (p.Phe1308Leu) c.4129T>C (p.Phe1377Leu) n.3215T>C c.4273T>C (p.Phe1425Leu) c.4270T>C (p.Phe1424Leu) c.3217T>C (p.Phe1073Leu) c.4063T>C (p.Phe1355Leu) c.3583T>C (p.Phe1195Leu) | |
| 12 | g.47974277A>T | CA384533797 | COL2A1 | c.3922T>A (p.Phe1308Ile) c.4129T>A (p.Phe1377Ile) n.3215T>A c.4273T>A (p.Phe1425Ile) c.4270T>A (p.Phe1424Ile) c.3217T>A (p.Phe1073Ile) c.4063T>A (p.Phe1355Ile) c.3583T>A (p.Phe1195Ile) | |
| 12 | g.47974278G>A | CA479450241 | COL2A1 | c.3921C>T (p.Thr1307=) c.4128C>T (p.Thr1376=) n.3214C>T c.4272C>T (p.Thr1424=) c.4269C>T (p.Thr1423=) c.3216C>T (p.Thr1072=) c.4062C>T (p.Thr1354=) c.3582C>T (p.Thr1194=) | |
| 12 | g.47974278G>C | CA479450242 | COL2A1 | c.3921C>G (p.Thr1307=) c.4128C>G (p.Thr1376=) n.3214C>G c.4272C>G (p.Thr1424=) c.4269C>G (p.Thr1423=) c.3216C>G (p.Thr1072=) c.4062C>G (p.Thr1354=) c.3582C>G (p.Thr1194=) | |
| 12 | g.47974278G>T | CA479450243 | COL2A1 | c.3921C>A (p.Thr1307=) c.4128C>A (p.Thr1376=) n.3214C>A c.4272C>A (p.Thr1424=) c.4269C>A (p.Thr1423=) c.3216C>A (p.Thr1072=) c.4062C>A (p.Thr1354=) c.3582C>A (p.Thr1194=) | |
| 12 | g.47974278_47974279dup | CA2739271939 | COL2A1 | c.3920_3921dup (p.Phe1308ProfsTer?) c.4127_4128dup (p.Phe1377ProfsTer?) n.3213_3214dup c.4271_4272dup (p.Phe1425ProfsTer?) c.4268_4269dup (p.Phe1424ProfsTer?) c.3215_3216dup (p.Phe1073ProfsTer?) c.4061_4062dup (p.Phe1355ProfsTer?) c.3581_3582dup (p.Phe1195ProfsTer?) | ClinVar |
| 12 | g.47974279G>A | CA384533798 | COL2A1 | c.3920C>T (p.Thr1307Ile) c.4127C>T (p.Thr1376Ile) n.3213C>T c.4271C>T (p.Thr1424Ile) c.4268C>T (p.Thr1423Ile) c.3215C>T (p.Thr1072Ile) c.4061C>T (p.Thr1354Ile) c.3581C>T (p.Thr1194Ile) | dbSNP |
| 12 | g.47974279G>C | CA384533799 | COL2A1 | c.3920C>G (p.Thr1307Ser) c.4127C>G (p.Thr1376Ser) n.3213C>G c.4271C>G (p.Thr1424Ser) c.4268C>G (p.Thr1423Ser) c.3215C>G (p.Thr1072Ser) c.4061C>G (p.Thr1354Ser) c.3581C>G (p.Thr1194Ser) | dbSNP |
| 12 | g.47974279G= | CA2034471884 | COL2A1 | c.3920C= (p.Thr1307=) c.4127C= (p.Thr1376=) n.3213C= c.4271C= (p.Thr1424=) c.4268C= (p.Thr1423=) c.3215C= (p.Thr1072=) c.4061C= (p.Thr1354=) c.3581C= (p.Thr1194=) | |
| 12 | g.47974279G>T | CA384533800 | COL2A1 | c.3920C>A (p.Thr1307Asn) c.4127C>A (p.Thr1376Asn) n.3213C>A c.4271C>A (p.Thr1424Asn) c.4268C>A (p.Thr1423Asn) c.3215C>A (p.Thr1072Asn) c.4061C>A (p.Thr1354Asn) c.3581C>A (p.Thr1194Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974280T>A | CA384533803 | COL2A1 | c.3919A>T (p.Thr1307Ser) c.4126A>T (p.Thr1376Ser) n.3212A>T c.4270A>T (p.Thr1424Ser) c.4267A>T (p.Thr1423Ser) c.3214A>T (p.Thr1072Ser) c.4060A>T (p.Thr1354Ser) c.3580A>T (p.Thr1194Ser) | |
| 12 | g.47974280T>C | CA384533802 | COL2A1 | c.3919A>G (p.Thr1307Ala) c.4126A>G (p.Thr1376Ala) n.3212A>G c.4270A>G (p.Thr1424Ala) c.4267A>G (p.Thr1423Ala) c.3214A>G (p.Thr1072Ala) c.4060A>G (p.Thr1354Ala) c.3580A>G (p.Thr1194Ala) | |
| 12 | g.47974280T>G | CA384533801 | COL2A1 | c.3919A>C (p.Thr1307Pro) c.4126A>C (p.Thr1376Pro) n.3212A>C c.4270A>C (p.Thr1424Pro) c.4267A>C (p.Thr1423Pro) c.3214A>C (p.Thr1072Pro) c.4060A>C (p.Thr1354Pro) c.3580A>C (p.Thr1194Pro) | |
| 12 | g.47974281C>A | CA384533804 | COL2A1 | c.3918G>T (p.Met1306Ile) c.4125G>T (p.Met1375Ile) n.3211G>T c.4269G>T (p.Met1423Ile) c.4266G>T (p.Met1422Ile) c.3213G>T (p.Met1071Ile) c.4059G>T (p.Met1353Ile) c.3579G>T (p.Met1193Ile) | gnomAD v4 |
| 12 | g.47974281C>G | CA384533805 | COL2A1 | c.3918G>C (p.Met1306Ile) c.4125G>C (p.Met1375Ile) n.3211G>C c.4269G>C (p.Met1423Ile) c.4266G>C (p.Met1422Ile) c.3213G>C (p.Met1071Ile) c.4059G>C (p.Met1353Ile) c.3579G>C (p.Met1193Ile) | |
| 12 | g.47974281C>T | CA384533806 | COL2A1 | c.3918G>A (p.Met1306Ile) c.4125G>A (p.Met1375Ile) n.3211G>A c.4269G>A (p.Met1423Ile) c.4266G>A (p.Met1422Ile) c.3213G>A (p.Met1071Ile) c.4059G>A (p.Met1353Ile) c.3579G>A (p.Met1193Ile) | |
| 12 | g.47974282A>C | CA384533807 | COL2A1 | c.3917T>G (p.Met1306Arg) c.4124T>G (p.Met1375Arg) n.3210T>G c.4268T>G (p.Met1423Arg) c.4265T>G (p.Met1422Arg) c.3212T>G (p.Met1071Arg) c.4058T>G (p.Met1353Arg) c.3578T>G (p.Met1193Arg) | |
| 12 | g.47974282A>G | CA384533808 | COL2A1 | c.3917T>C (p.Met1306Thr) c.4124T>C (p.Met1375Thr) n.3210T>C c.4268T>C (p.Met1423Thr) c.4265T>C (p.Met1422Thr) c.3212T>C (p.Met1071Thr) c.4058T>C (p.Met1353Thr) c.3578T>C (p.Met1193Thr) | ClinVar |
| 12 | g.47974282A>T | CA384533810 | COL2A1 | c.3917T>A (p.Met1306Lys) c.4124T>A (p.Met1375Lys) n.3210T>A c.4268T>A (p.Met1423Lys) c.4265T>A (p.Met1422Lys) c.3212T>A (p.Met1071Lys) c.4058T>A (p.Met1353Lys) c.3578T>A (p.Met1193Lys) | dbSNP |
| 12 | g.47974283T>A | CA384533813 | COL2A1 | c.3916A>T (p.Met1306Leu) c.4123A>T (p.Met1375Leu) n.3209A>T c.4267A>T (p.Met1423Leu) c.4264A>T (p.Met1422Leu) c.3211A>T (p.Met1071Leu) c.4057A>T (p.Met1353Leu) c.3577A>T (p.Met1193Leu) | |
| 12 | g.47974283T>C | CA384533814 | COL2A1 | c.3916A>G (p.Met1306Val) c.4123A>G (p.Met1375Val) n.3209A>G c.4267A>G (p.Met1423Val) c.4264A>G (p.Met1422Val) c.3211A>G (p.Met1071Val) c.4057A>G (p.Met1353Val) c.3577A>G (p.Met1193Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974283T>G | CA384533815 | COL2A1 | c.3916A>C (p.Met1306Leu) c.4123A>C (p.Met1375Leu) n.3209A>C c.4267A>C (p.Met1423Leu) c.4264A>C (p.Met1422Leu) c.3211A>C (p.Met1071Leu) c.4057A>C (p.Met1353Leu) c.3577A>C (p.Met1193Leu) | |
| 12 | g.47974283T= | CA2034471890 | COL2A1 | c.3916A= (p.Met1306=) c.4123A= (p.Met1375=) n.3209A= c.4267A= (p.Met1423=) c.4264A= (p.Met1422=) c.3211A= (p.Met1071=) c.4057A= (p.Met1353=) c.3577A= (p.Met1193=) | |
| 12 | g.47974284C>A | CA384533818 | COL2A1 | c.3915G>T (p.Gln1305His) c.4122G>T (p.Gln1374His) n.3208G>T c.4266G>T (p.Gln1422His) c.4263G>T (p.Gln1421His) c.3210G>T (p.Gln1070His) c.4056G>T (p.Gln1352His) c.3576G>T (p.Gln1192His) | |
| 12 | g.47974284C= | CA2034471893 | COL2A1 | c.3915G= (p.Gln1305=) c.4122G= (p.Gln1374=) n.3208G= c.4266G= (p.Gln1422=) c.4263G= (p.Gln1421=) c.3210G= (p.Gln1070=) c.4056G= (p.Gln1352=) c.3576G= (p.Gln1192=) | |
| 12 | g.47974284C>G | CA384533821 | COL2A1 | c.3915G>C (p.Gln1305His) c.4122G>C (p.Gln1374His) n.3208G>C c.4266G>C (p.Gln1422His) c.4263G>C (p.Gln1421His) c.3210G>C (p.Gln1070His) c.4056G>C (p.Gln1352His) c.3576G>C (p.Gln1192His) | |
| 12 | g.47974284C>T | CA479450249 | COL2A1 | c.3915G>A (p.Gln1305=) c.4122G>A (p.Gln1374=) n.3208G>A c.4266G>A (p.Gln1422=) c.4263G>A (p.Gln1421=) c.3210G>A (p.Gln1070=) c.4056G>A (p.Gln1352=) c.3576G>A (p.Gln1192=) | dbSNP gnomAD v2 |
| 12 | g.47974285T>A | CA384533823 | COL2A1 | c.3914A>T (p.Gln1305Leu) c.4121A>T (p.Gln1374Leu) n.3207A>T c.4265A>T (p.Gln1422Leu) c.4262A>T (p.Gln1421Leu) c.3209A>T (p.Gln1070Leu) c.4055A>T (p.Gln1352Leu) c.3575A>T (p.Gln1192Leu) | ClinVar |
| 12 | g.47974285T>C | CA384533825 | COL2A1 | c.3914A>G (p.Gln1305Arg) c.4121A>G (p.Gln1374Arg) n.3207A>G c.4265A>G (p.Gln1422Arg) c.4262A>G (p.Gln1421Arg) c.3209A>G (p.Gln1070Arg) c.4055A>G (p.Gln1352Arg) c.3575A>G (p.Gln1192Arg) | |
| 12 | g.47974285T>G | CA384533827 | COL2A1 | c.3914A>C (p.Gln1305Pro) c.4121A>C (p.Gln1374Pro) n.3207A>C c.4265A>C (p.Gln1422Pro) c.4262A>C (p.Gln1421Pro) c.3209A>C (p.Gln1070Pro) c.4055A>C (p.Gln1352Pro) c.3575A>C (p.Gln1192Pro) | ClinVar |
| 12 | g.47974286G>A | CA384533831 | COL2A1 | c.3913C>T (p.Gln1305Ter) c.4120C>T (p.Gln1374Ter) n.3206C>T c.4264C>T (p.Gln1422Ter) c.4261C>T (p.Gln1421Ter) c.3208C>T (p.Gln1070Ter) c.4054C>T (p.Gln1352Ter) c.3574C>T (p.Gln1192Ter) | |
| 12 | g.47974286G>C | CA384533833 | COL2A1 | c.3913C>G (p.Gln1305Glu) c.4120C>G (p.Gln1374Glu) n.3206C>G c.4264C>G (p.Gln1422Glu) c.4261C>G (p.Gln1421Glu) c.3208C>G (p.Gln1070Glu) c.4054C>G (p.Gln1352Glu) c.3574C>G (p.Gln1192Glu) | |
| 12 | g.47974286G>T | CA384533829 | COL2A1 | c.3913C>A (p.Gln1305Lys) c.4120C>A (p.Gln1374Lys) n.3206C>A c.4264C>A (p.Gln1422Lys) c.4261C>A (p.Gln1421Lys) c.3208C>A (p.Gln1070Lys) c.4054C>A (p.Gln1352Lys) c.3574C>A (p.Gln1192Lys) | |
| 12 | g.47974287G>A | CA236516106 | COL2A1 | c.3912C>T (p.Val1304=) c.4119C>T (p.Val1373=) n.3205C>T c.4263C>T (p.Val1421=) c.4260C>T (p.Val1420=) c.3207C>T (p.Val1069=) c.4053C>T (p.Val1351=) c.3573C>T (p.Val1191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974287G>C | CA479450251 | COL2A1 | c.3912C>G (p.Val1304=) c.4119C>G (p.Val1373=) n.3205C>G c.4263C>G (p.Val1421=) c.4260C>G (p.Val1420=) c.3207C>G (p.Val1069=) c.4053C>G (p.Val1351=) c.3573C>G (p.Val1191=) | |
| 12 | g.47974287G= | CA2034471897 | COL2A1 | c.3912C= (p.Val1304=) c.4119C= (p.Val1373=) n.3205C= c.4263C= (p.Val1421=) c.4260C= (p.Val1420=) c.3207C= (p.Val1069=) c.4053C= (p.Val1351=) c.3573C= (p.Val1191=) | |
| 12 | g.47974287G>T | CA479450252 | COL2A1 | c.3912C>A (p.Val1304=) c.4119C>A (p.Val1373=) n.3205C>A c.4263C>A (p.Val1421=) c.4260C>A (p.Val1420=) c.3207C>A (p.Val1069=) c.4053C>A (p.Val1351=) c.3573C>A (p.Val1191=) | |
| 12 | g.47974288A>C | CA384533835 | COL2A1 | c.3911T>G (p.Val1304Gly) c.4118T>G (p.Val1373Gly) n.3204T>G c.4262T>G (p.Val1421Gly) c.4259T>G (p.Val1420Gly) c.3206T>G (p.Val1069Gly) c.4052T>G (p.Val1351Gly) c.3572T>G (p.Val1191Gly) | |
| 12 | g.47974288A>G | CA384533837 | COL2A1 | c.3911T>C (p.Val1304Ala) c.4118T>C (p.Val1373Ala) n.3204T>C c.4262T>C (p.Val1421Ala) c.4259T>C (p.Val1420Ala) c.3206T>C (p.Val1069Ala) c.4052T>C (p.Val1351Ala) c.3572T>C (p.Val1191Ala) | |
| 12 | g.47974288A>T | CA384533839 | COL2A1 | c.3911T>A (p.Val1304Asp) c.4118T>A (p.Val1373Asp) n.3204T>A c.4262T>A (p.Val1421Asp) c.4259T>A (p.Val1420Asp) c.3206T>A (p.Val1069Asp) c.4052T>A (p.Val1351Asp) c.3572T>A (p.Val1191Asp) | |
| 12 | g.47974289C>A | CA384533841 | COL2A1 | c.3910G>T (p.Val1304Phe) c.4117G>T (p.Val1373Phe) n.3203G>T c.4261G>T (p.Val1421Phe) c.4258G>T (p.Val1420Phe) c.3205G>T (p.Val1069Phe) c.4051G>T (p.Val1351Phe) c.3571G>T (p.Val1191Phe) | |
| 12 | g.47974289C= | CA2034471904 | COL2A1 | c.3910G= (p.Val1304=) c.4117G= (p.Val1373=) n.3203G= c.4261G= (p.Val1421=) c.4258G= (p.Val1420=) c.3205G= (p.Val1069=) c.4051G= (p.Val1351=) c.3571G= (p.Val1191=) | |
| 12 | g.47974289C>G | CA384533843 | COL2A1 | c.3910G>C (p.Val1304Leu) c.4117G>C (p.Val1373Leu) n.3203G>C c.4261G>C (p.Val1421Leu) c.4258G>C (p.Val1420Leu) c.3205G>C (p.Val1069Leu) c.4051G>C (p.Val1351Leu) c.3571G>C (p.Val1191Leu) | |
| 12 | g.47974289C>T | CA6534531 | COL2A1 | c.3910G>A (p.Val1304Ile) c.4117G>A (p.Val1373Ile) n.3203G>A c.4261G>A (p.Val1421Ile) c.4258G>A (p.Val1420Ile) c.3205G>A (p.Val1069Ile) c.4051G>A (p.Val1351Ile) c.3571G>A (p.Val1191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974290G>A | CA6534532 | COL2A1 | c.3909C>T (p.Asn1303=) c.4116C>T (p.Asn1372=) n.3202C>T c.4260C>T (p.Asn1420=) c.4257C>T (p.Asn1419=) c.3204C>T (p.Asn1068=) c.4050C>T (p.Asn1350=) c.3570C>T (p.Asn1190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974290G>C | CA384533847 | COL2A1 | c.3909C>G (p.Asn1303Lys) c.4116C>G (p.Asn1372Lys) n.3202C>G c.4260C>G (p.Asn1420Lys) c.4257C>G (p.Asn1419Lys) c.3204C>G (p.Asn1068Lys) c.4050C>G (p.Asn1350Lys) c.3570C>G (p.Asn1190Lys) | gnomAD v4 |
| 12 | g.47974290G= | CA2034471909 | COL2A1 | c.3909C= (p.Asn1303=) c.4116C= (p.Asn1372=) n.3202C= c.4260C= (p.Asn1420=) c.4257C= (p.Asn1419=) c.3204C= (p.Asn1068=) c.4050C= (p.Asn1350=) c.3570C= (p.Asn1190=) | |
| 12 | g.47974290G>T | CA384533849 | COL2A1 | c.3909C>A (p.Asn1303Lys) c.4116C>A (p.Asn1372Lys) n.3202C>A c.4260C>A (p.Asn1420Lys) c.4257C>A (p.Asn1419Lys) c.3204C>A (p.Asn1068Lys) c.4050C>A (p.Asn1350Lys) c.3570C>A (p.Asn1190Lys) | |
| 12 | g.47974290_47974291insAAGCAG | CA2726229229 | COL2A1 | c.3909_3910insTGCTTC (p.Asn1303_Val1304insCysPhe) c.4116_4117insTGCTTC (p.Asn1372_Val1373insCysPhe) n.3202_3203insTGCTTC c.4260_4261insTGCTTC (p.Asn1420_Val1421insCysPhe) c.4257_4258insTGCTTC (p.Asn1419_Val1420insCysPhe) c.3204_3205insTGCTTC (p.Asn1068_Val1069insCysPhe) c.4050_4051insTGCTTC (p.Asn1350_Val1351insCysPhe) c.3570_3571insTGCTTC (p.Asn1190_Val1191insCysPhe) | dbSNP |
| 12 | g.47974290_47974291insAAGCAGC | CA2726229242 | COL2A1 | c.3908_3909insGCTGCTT (p.Asn1303LysfsTer?) c.4115_4116insGCTGCTT (p.Asn1372LysfsTer?) n.3201_3202insGCTGCTT c.4259_4260insGCTGCTT (p.Asn1420LysfsTer?) c.4256_4257insGCTGCTT (p.Asn1419LysfsTer?) c.3203_3204insGCTGCTT (p.Asn1068LysfsTer?) c.4049_4050insGCTGCTT (p.Asn1350LysfsTer?) c.3569_3570insGCTGCTT (p.Asn1190LysfsTer?) | dbSNP |
| 12 | g.47974291T>A | CA384533851 | COL2A1 | c.3908A>T (p.Asn1303Ile) c.4115A>T (p.Asn1372Ile) n.3201A>T c.4259A>T (p.Asn1420Ile) c.4256A>T (p.Asn1419Ile) c.3203A>T (p.Asn1068Ile) c.4049A>T (p.Asn1350Ile) c.3569A>T (p.Asn1190Ile) | |
| 12 | g.47974291T>C | CA6534533 | COL2A1 | c.3908A>G (p.Asn1303Ser) c.4115A>G (p.Asn1372Ser) n.3201A>G c.4259A>G (p.Asn1420Ser) c.4256A>G (p.Asn1419Ser) c.3203A>G (p.Asn1068Ser) c.4049A>G (p.Asn1350Ser) c.3569A>G (p.Asn1190Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974291T>G | CA384533854 | COL2A1 | c.3908A>C (p.Asn1303Thr) c.4115A>C (p.Asn1372Thr) n.3201A>C c.4259A>C (p.Asn1420Thr) c.4256A>C (p.Asn1419Thr) c.3203A>C (p.Asn1068Thr) c.4049A>C (p.Asn1350Thr) c.3569A>C (p.Asn1190Thr) | |
| 12 | g.47974291T= | CA2034471914 | COL2A1 | c.3908A= (p.Asn1303=) c.4115A= (p.Asn1372=) n.3201A= c.4259A= (p.Asn1420=) c.4256A= (p.Asn1419=) c.3203A= (p.Asn1068=) c.4049A= (p.Asn1350=) c.3569A= (p.Asn1190=) | |
| 12 | g.47974292T>A | CA384533861 | COL2A1 | c.3907A>T (p.Asn1303Tyr) c.4114A>T (p.Asn1372Tyr) n.3200A>T c.4258A>T (p.Asn1420Tyr) c.4255A>T (p.Asn1419Tyr) c.3202A>T (p.Asn1068Tyr) c.4048A>T (p.Asn1350Tyr) c.3568A>T (p.Asn1190Tyr) | |
| 12 | g.47974292T>C | CA384533857 | COL2A1 | c.3907A>G (p.Asn1303Asp) c.4114A>G (p.Asn1372Asp) n.3200A>G c.4258A>G (p.Asn1420Asp) c.4255A>G (p.Asn1419Asp) c.3202A>G (p.Asn1068Asp) c.4048A>G (p.Asn1350Asp) c.3568A>G (p.Asn1190Asp) | |
| 12 | g.47974292T>G | CA384533859 | COL2A1 | c.3907A>C (p.Asn1303His) c.4114A>C (p.Asn1372His) n.3200A>C c.4258A>C (p.Asn1420His) c.4255A>C (p.Asn1419His) c.3202A>C (p.Asn1068His) c.4048A>C (p.Asn1350His) c.3568A>C (p.Asn1190His) | |
| 12 | g.47974293G>A | CA479450253 | COL2A1 | c.3906C>T (p.Ala1302=) c.4113C>T (p.Ala1371=) n.3199C>T c.4257C>T (p.Ala1419=) c.4254C>T (p.Ala1418=) c.3201C>T (p.Ala1067=) c.4047C>T (p.Ala1349=) c.3567C>T (p.Ala1189=) | gnomAD v4 |
| 12 | g.47974293G>C | CA479450254 | COL2A1 | c.3906C>G (p.Ala1302=) c.4113C>G (p.Ala1371=) n.3199C>G c.4257C>G (p.Ala1419=) c.4254C>G (p.Ala1418=) c.3201C>G (p.Ala1067=) c.4047C>G (p.Ala1349=) c.3567C>G (p.Ala1189=) | |
| 12 | g.47974293G>T | CA479450255 | COL2A1 | c.3906C>A (p.Ala1302=) c.4113C>A (p.Ala1371=) n.3199C>A c.4257C>A (p.Ala1419=) c.4254C>A (p.Ala1418=) c.3201C>A (p.Ala1067=) c.4047C>A (p.Ala1349=) c.3567C>A (p.Ala1189=) | |
| 12 | g.47974294del | CA2521801334 | COL2A1 | c.3906del (p.Asn1303ThrfsTer4) c.4113del (p.Asn1372ThrfsTer4) n.3199del c.4257del (p.Asn1420ThrfsTer4) c.4254del (p.Asn1419ThrfsTer4) c.3201del (p.Asn1068ThrfsTer4) c.4047del (p.Asn1350ThrfsTer4) c.3567del (p.Asn1190ThrfsTer4) | |
| 12 | g.47974293_47974294insAA | CA2726229457 | COL2A1 | c.3905_3906insTT (p.Asn1303SerfsTer5) c.4112_4113insTT (p.Asn1372SerfsTer5) n.3198_3199insTT c.4256_4257insTT (p.Asn1420SerfsTer5) c.4253_4254insTT (p.Asn1419SerfsTer5) c.3200_3201insTT (p.Asn1068SerfsTer5) c.4046_4047insTT (p.Asn1350SerfsTer5) c.3566_3567insTT (p.Asn1190SerfsTer5) | dbSNP |
| 12 | g.47974293_47974294insCA | CA2726229249 | COL2A1 | c.3905_3906insTG (p.Asn1303AlafsTer5) c.4112_4113insTG (p.Asn1372AlafsTer5) n.3198_3199insTG c.4256_4257insTG (p.Asn1420AlafsTer5) c.4253_4254insTG (p.Asn1419AlafsTer5) c.3200_3201insTG (p.Asn1068AlafsTer5) c.4046_4047insTG (p.Asn1350AlafsTer5) c.3566_3567insTG (p.Asn1190AlafsTer5) | dbSNP |
| 12 | g.47974294G>A | CA384533863 | COL2A1 | c.3905C>T (p.Ala1302Val) c.4112C>T (p.Ala1371Val) n.3198C>T c.4256C>T (p.Ala1419Val) c.4253C>T (p.Ala1418Val) c.3200C>T (p.Ala1067Val) c.4046C>T (p.Ala1349Val) c.3566C>T (p.Ala1189Val) | dbSNP |
| 12 | g.47974294G>C | CA384533865 | COL2A1 | c.3905C>G (p.Ala1302Gly) c.4112C>G (p.Ala1371Gly) n.3198C>G c.4256C>G (p.Ala1419Gly) c.4253C>G (p.Ala1418Gly) c.3200C>G (p.Ala1067Gly) c.4046C>G (p.Ala1349Gly) c.3566C>G (p.Ala1189Gly) | |
| 12 | g.47974294G>T | CA384533867 | COL2A1 | c.3905C>A (p.Ala1302Asp) c.4112C>A (p.Ala1371Asp) n.3198C>A c.4256C>A (p.Ala1419Asp) c.4253C>A (p.Ala1418Asp) c.3200C>A (p.Ala1067Asp) c.4046C>A (p.Ala1349Asp) c.3566C>A (p.Ala1189Asp) | COSMIC COSMIC |
| 12 | g.47974295C>A | CA384533869 | COL2A1 | c.3904G>T (p.Ala1302Ser) c.4111G>T (p.Ala1371Ser) n.3197G>T c.4255G>T (p.Ala1419Ser) c.4252G>T (p.Ala1418Ser) c.3199G>T (p.Ala1067Ser) c.4045G>T (p.Ala1349Ser) c.3565G>T (p.Ala1189Ser) | |
| 12 | g.47974295C= | CA2034471917 | COL2A1 | c.3904G= (p.Ala1302=) c.4111G= (p.Ala1371=) n.3197G= c.4255G= (p.Ala1419=) c.4252G= (p.Ala1418=) c.3199G= (p.Ala1067=) c.4045G= (p.Ala1349=) c.3565G= (p.Ala1189=) | |
| 12 | g.47974295C>G | CA384533871 | COL2A1 | c.3904G>C (p.Ala1302Pro) c.4111G>C (p.Ala1371Pro) n.3197G>C c.4255G>C (p.Ala1419Pro) c.4252G>C (p.Ala1418Pro) c.3199G>C (p.Ala1067Pro) c.4045G>C (p.Ala1349Pro) c.3565G>C (p.Ala1189Pro) | |
| 12 | g.47974295C>T | CA384533873 | COL2A1 | c.3904G>A (p.Ala1302Thr) c.4111G>A (p.Ala1371Thr) n.3197G>A c.4255G>A (p.Ala1419Thr) c.4252G>A (p.Ala1418Thr) c.3199G>A (p.Ala1067Thr) c.4045G>A (p.Ala1349Thr) c.3565G>A (p.Ala1189Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974296A>C | CA479450256 | COL2A1 | c.3903T>G (p.Thr1301=) c.4110T>G (p.Thr1370=) n.3196T>G c.4254T>G (p.Thr1418=) c.4251T>G (p.Thr1417=) c.3198T>G (p.Thr1066=) c.4044T>G (p.Thr1348=) c.3564T>G (p.Thr1188=) | |
| 12 | g.47974296A>G | CA479450257 | COL2A1 | c.3903T>C (p.Thr1301=) c.4110T>C (p.Thr1370=) n.3196T>C c.4254T>C (p.Thr1418=) c.4251T>C (p.Thr1417=) c.3198T>C (p.Thr1066=) c.4044T>C (p.Thr1348=) c.3564T>C (p.Thr1188=) | |
| 12 | g.47974296A>T | CA479450258 | COL2A1 | c.3903T>A (p.Thr1301=) c.4110T>A (p.Thr1370=) n.3196T>A c.4254T>A (p.Thr1418=) c.4251T>A (p.Thr1417=) c.3198T>A (p.Thr1066=) c.4044T>A (p.Thr1348=) c.3564T>A (p.Thr1188=) | |
| 12 | g.47974297G>A | CA6534534 | COL2A1 | c.3902C>T (p.Thr1301Ile) c.4109C>T (p.Thr1370Ile) n.3195C>T c.4253C>T (p.Thr1418Ile) c.4250C>T (p.Thr1417Ile) c.3197C>T (p.Thr1066Ile) c.4043C>T (p.Thr1348Ile) c.3563C>T (p.Thr1188Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974297G>C | CA384533876 | COL2A1 | c.3902C>G (p.Thr1301Ser) c.4109C>G (p.Thr1370Ser) n.3195C>G c.4253C>G (p.Thr1418Ser) c.4250C>G (p.Thr1417Ser) c.3197C>G (p.Thr1066Ser) c.4043C>G (p.Thr1348Ser) c.3563C>G (p.Thr1188Ser) | |
| 12 | g.47974297G= | CA2034471922 | COL2A1 | c.3902C= (p.Thr1301=) c.4109C= (p.Thr1370=) n.3195C= c.4253C= (p.Thr1418=) c.4250C= (p.Thr1417=) c.3197C= (p.Thr1066=) c.4043C= (p.Thr1348=) c.3563C= (p.Thr1188=) | |
| 12 | g.47974297G>T | CA384533877 | COL2A1 | c.3902C>A (p.Thr1301Asn) c.4109C>A (p.Thr1370Asn) n.3195C>A c.4253C>A (p.Thr1418Asn) c.4250C>A (p.Thr1417Asn) c.3197C>A (p.Thr1066Asn) c.4043C>A (p.Thr1348Asn) c.3563C>A (p.Thr1188Asn) | |
| 12 | g.47974298T>A | CA384533879 | COL2A1 | c.3901A>T (p.Thr1301Ser) c.4108A>T (p.Thr1370Ser) n.3194A>T c.4252A>T (p.Thr1418Ser) c.4249A>T (p.Thr1417Ser) c.3196A>T (p.Thr1066Ser) c.4042A>T (p.Thr1348Ser) c.3562A>T (p.Thr1188Ser) | |
| 12 | g.47974298T>C | CA384533881 | COL2A1 | c.3901A>G (p.Thr1301Ala) c.4108A>G (p.Thr1370Ala) n.3194A>G c.4252A>G (p.Thr1418Ala) c.4249A>G (p.Thr1417Ala) c.3196A>G (p.Thr1066Ala) c.4042A>G (p.Thr1348Ala) c.3562A>G (p.Thr1188Ala) | |
| 12 | g.47974298T>G | CA384533882 | COL2A1 | c.3901A>C (p.Thr1301Pro) c.4108A>C (p.Thr1370Pro) n.3194A>C c.4252A>C (p.Thr1418Pro) c.4249A>C (p.Thr1417Pro) c.3196A>C (p.Thr1066Pro) c.4042A>C (p.Thr1348Pro) c.3562A>C (p.Thr1188Pro) | |
| 12 | g.47974299G>A | CA479450259 | COL2A1 | c.3900C>T (p.Asn1300=) c.4107C>T (p.Asn1369=) n.3193C>T c.4251C>T (p.Asn1417=) c.4248C>T (p.Asn1416=) c.3195C>T (p.Asn1065=) c.4041C>T (p.Asn1347=) c.3561C>T (p.Asn1187=) | |
| 12 | g.47974299G>C | CA384533885 | COL2A1 | c.3900C>G (p.Asn1300Lys) c.4107C>G (p.Asn1369Lys) n.3193C>G c.4251C>G (p.Asn1417Lys) c.4248C>G (p.Asn1416Lys) c.3195C>G (p.Asn1065Lys) c.4041C>G (p.Asn1347Lys) c.3561C>G (p.Asn1187Lys) | |
| 12 | g.47974299G>T | CA384533884 | COL2A1 | c.3900C>A (p.Asn1300Lys) c.4107C>A (p.Asn1369Lys) n.3193C>A c.4251C>A (p.Asn1417Lys) c.4248C>A (p.Asn1416Lys) c.3195C>A (p.Asn1065Lys) c.4041C>A (p.Asn1347Lys) c.3561C>A (p.Asn1187Lys) | |
| 12 | g.47974300T>A | CA384533888 | COL2A1 | c.3899A>T (p.Asn1300Ile) c.4106A>T (p.Asn1369Ile) n.3192A>T c.4250A>T (p.Asn1417Ile) c.4247A>T (p.Asn1416Ile) c.3194A>T (p.Asn1065Ile) c.4040A>T (p.Asn1347Ile) c.3560A>T (p.Asn1187Ile) | |
| 12 | g.47974300T>C | CA384533891 | COL2A1 | c.3899A>G (p.Asn1300Ser) c.4106A>G (p.Asn1369Ser) n.3192A>G c.4250A>G (p.Asn1417Ser) c.4247A>G (p.Asn1416Ser) c.3194A>G (p.Asn1065Ser) c.4040A>G (p.Asn1347Ser) c.3560A>G (p.Asn1187Ser) | |
| 12 | g.47974300T>G | CA384533890 | COL2A1 | c.3899A>C (p.Asn1300Thr) c.4106A>C (p.Asn1369Thr) n.3192A>C c.4250A>C (p.Asn1417Thr) c.4247A>C (p.Asn1416Thr) c.3194A>C (p.Asn1065Thr) c.4040A>C (p.Asn1347Thr) c.3560A>C (p.Asn1187Thr) | |
| 12 | g.47974301T>A | CA384533892 | COL2A1 | c.3898A>T (p.Asn1300Tyr) c.4105A>T (p.Asn1369Tyr) n.3191A>T c.4249A>T (p.Asn1417Tyr) c.4246A>T (p.Asn1416Tyr) c.3193A>T (p.Asn1065Tyr) c.4039A>T (p.Asn1347Tyr) c.3559A>T (p.Asn1187Tyr) | |
| 12 | g.47974301T>C | CA384533894 | COL2A1 | c.3898A>G (p.Asn1300Asp) c.4105A>G (p.Asn1369Asp) n.3191A>G c.4249A>G (p.Asn1417Asp) c.4246A>G (p.Asn1416Asp) c.3193A>G (p.Asn1065Asp) c.4039A>G (p.Asn1347Asp) c.3559A>G (p.Asn1187Asp) | gnomAD v4 |
| 12 | g.47974301T>G | CA384533896 | COL2A1 | c.3898A>C (p.Asn1300His) c.4105A>C (p.Asn1369His) n.3191A>C c.4249A>C (p.Asn1417His) c.4246A>C (p.Asn1416His) c.3193A>C (p.Asn1065His) c.4039A>C (p.Asn1347His) c.3559A>C (p.Asn1187His) | |
| 12 | g.47974302G>A | CA203163 | COL2A1 | c.3897C>T (p.Pro1299=) c.4104C>T (p.Pro1368=) n.3190C>T c.4248C>T (p.Pro1416=) c.4245C>T (p.Pro1415=) c.3192C>T (p.Pro1064=) c.4038C>T (p.Pro1346=) c.3558C>T (p.Pro1186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974302G>C | CA479450261 | COL2A1 | c.3897C>G (p.Pro1299=) c.4104C>G (p.Pro1368=) n.3190C>G c.4248C>G (p.Pro1416=) c.4245C>G (p.Pro1415=) c.3192C>G (p.Pro1064=) c.4038C>G (p.Pro1346=) c.3558C>G (p.Pro1186=) | |
| 12 | g.47974302G= | CA2034471926 | COL2A1 | c.3897C= (p.Pro1299=) c.4104C= (p.Pro1368=) n.3190C= c.4248C= (p.Pro1416=) c.4245C= (p.Pro1415=) c.3192C= (p.Pro1064=) c.4038C= (p.Pro1346=) c.3558C= (p.Pro1186=) | |
| 12 | g.47974302G>T | CA479450260 | COL2A1 | c.3897C>A (p.Pro1299=) c.4104C>A (p.Pro1368=) n.3190C>A c.4248C>A (p.Pro1416=) c.4245C>A (p.Pro1415=) c.3192C>A (p.Pro1064=) c.4038C>A (p.Pro1346=) c.3558C>A (p.Pro1186=) | |
| 12 | g.47974303G>A | CA6534535 | COL2A1 | c.3896C>T (p.Pro1299Leu) c.4103C>T (p.Pro1368Leu) n.3189C>T c.4247C>T (p.Pro1416Leu) c.4244C>T (p.Pro1415Leu) c.3191C>T (p.Pro1064Leu) c.4037C>T (p.Pro1346Leu) c.3557C>T (p.Pro1186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974303G>C | CA384533899 | COL2A1 | c.3896C>G (p.Pro1299Arg) c.4103C>G (p.Pro1368Arg) n.3189C>G c.4247C>G (p.Pro1416Arg) c.4244C>G (p.Pro1415Arg) c.3191C>G (p.Pro1064Arg) c.4037C>G (p.Pro1346Arg) c.3557C>G (p.Pro1186Arg) | |
| 12 | g.47974303G= | CA2034471930 | COL2A1 | c.3896C= (p.Pro1299=) c.4103C= (p.Pro1368=) n.3189C= c.4247C= (p.Pro1416=) c.4244C= (p.Pro1415=) c.3191C= (p.Pro1064=) c.4037C= (p.Pro1346=) c.3557C= (p.Pro1186=) | |
| 12 | g.47974303G>T | CA384533901 | COL2A1 | c.3896C>A (p.Pro1299His) c.4103C>A (p.Pro1368His) n.3189C>A c.4247C>A (p.Pro1416His) c.4244C>A (p.Pro1415His) c.3191C>A (p.Pro1064His) c.4037C>A (p.Pro1346His) c.3557C>A (p.Pro1186His) | |
| 12 | g.47974304G>A | CA6534536 | COL2A1 | c.3895C>T (p.Pro1299Ser) c.4102C>T (p.Pro1368Ser) n.3188C>T c.4246C>T (p.Pro1416Ser) c.4243C>T (p.Pro1415Ser) c.3190C>T (p.Pro1064Ser) c.4036C>T (p.Pro1346Ser) c.3556C>T (p.Pro1186Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974304G>C | CA384533905 | COL2A1 | c.3895C>G (p.Pro1299Ala) c.4102C>G (p.Pro1368Ala) n.3188C>G c.4246C>G (p.Pro1416Ala) c.4243C>G (p.Pro1415Ala) c.3190C>G (p.Pro1064Ala) c.4036C>G (p.Pro1346Ala) c.3556C>G (p.Pro1186Ala) | COSMIC COSMIC |
| 12 | g.47974304G= | CA2034471935 | COL2A1 | c.3895C= (p.Pro1299=) c.4102C= (p.Pro1368=) n.3188C= c.4246C= (p.Pro1416=) c.4243C= (p.Pro1415=) c.3190C= (p.Pro1064=) c.4036C= (p.Pro1346=) c.3556C= (p.Pro1186=) | |
| 12 | g.47974304G>T | CA384533906 | COL2A1 | c.3895C>A (p.Pro1299Thr) c.4102C>A (p.Pro1368Thr) n.3188C>A c.4246C>A (p.Pro1416Thr) c.4243C>A (p.Pro1415Thr) c.3190C>A (p.Pro1064Thr) c.4036C>A (p.Pro1346Thr) c.3556C>A (p.Pro1186Thr) | |
| 12 | g.47974305A>C | CA479450264 | COL2A1 | c.3894T>G (p.Ala1298=) c.4101T>G (p.Ala1367=) n.3187T>G c.4245T>G (p.Ala1415=) c.4242T>G (p.Ala1414=) c.3189T>G (p.Ala1063=) c.4035T>G (p.Ala1345=) c.3555T>G (p.Ala1185=) | |
| 12 | g.47974305A>G | CA479450263 | COL2A1 | c.3894T>C (p.Ala1298=) c.4101T>C (p.Ala1367=) n.3187T>C c.4245T>C (p.Ala1415=) c.4242T>C (p.Ala1414=) c.3189T>C (p.Ala1063=) c.4035T>C (p.Ala1345=) c.3555T>C (p.Ala1185=) | |
| 12 | g.47974305A>T | CA479450262 | COL2A1 | c.3894T>A (p.Ala1298=) c.4101T>A (p.Ala1367=) n.3187T>A c.4245T>A (p.Ala1415=) c.4242T>A (p.Ala1414=) c.3189T>A (p.Ala1063=) c.4035T>A (p.Ala1345=) c.3555T>A (p.Ala1185=) | |
| 12 | g.47974306G>A | CA384533909 | COL2A1 | c.3893C>T (p.Ala1298Val) c.4100C>T (p.Ala1367Val) n.3186C>T c.4244C>T (p.Ala1415Val) c.4241C>T (p.Ala1414Val) c.3188C>T (p.Ala1063Val) c.4034C>T (p.Ala1345Val) c.3554C>T (p.Ala1185Val) | |
| 12 | g.47974306G>C | CA384533911 | COL2A1 | c.3893C>G (p.Ala1298Gly) c.4100C>G (p.Ala1367Gly) n.3186C>G c.4244C>G (p.Ala1415Gly) c.4241C>G (p.Ala1414Gly) c.3188C>G (p.Ala1063Gly) c.4034C>G (p.Ala1345Gly) c.3554C>G (p.Ala1185Gly) | |
| 12 | g.47974306G>T | CA384533913 | COL2A1 | c.3893C>A (p.Ala1298Asp) c.4100C>A (p.Ala1367Asp) n.3186C>A c.4244C>A (p.Ala1415Asp) c.4241C>A (p.Ala1414Asp) c.3188C>A (p.Ala1063Asp) c.4034C>A (p.Ala1345Asp) c.3554C>A (p.Ala1185Asp) | |
| 12 | g.47974307C>A | CA384533918 | COL2A1 | c.3892G>T (p.Ala1298Ser) c.4099G>T (p.Ala1367Ser) n.3185G>T c.4243G>T (p.Ala1415Ser) c.4240G>T (p.Ala1414Ser) c.3187G>T (p.Ala1063Ser) c.4033G>T (p.Ala1345Ser) c.3553G>T (p.Ala1185Ser) | ClinVar gnomAD v4 |
| 12 | g.47974307C= | CA2034471939 | COL2A1 | c.3892G= (p.Ala1298=) c.4099G= (p.Ala1367=) n.3185G= c.4243G= (p.Ala1415=) c.4240G= (p.Ala1414=) c.3187G= (p.Ala1063=) c.4033G= (p.Ala1345=) c.3553G= (p.Ala1185=) | |
| 12 | g.47974307C>G | CA6534537 | COL2A1 | c.3892G>C (p.Ala1298Pro) c.4099G>C (p.Ala1367Pro) n.3185G>C c.4243G>C (p.Ala1415Pro) c.4240G>C (p.Ala1414Pro) c.3187G>C (p.Ala1063Pro) c.4033G>C (p.Ala1345Pro) c.3553G>C (p.Ala1185Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974307C>T | CA384533916 | COL2A1 | c.3892G>A (p.Ala1298Thr) c.4099G>A (p.Ala1367Thr) n.3185G>A c.4243G>A (p.Ala1415Thr) c.4240G>A (p.Ala1414Thr) c.3187G>A (p.Ala1063Thr) c.4033G>A (p.Ala1345Thr) c.3553G>A (p.Ala1185Thr) | |
| 12 | g.47974308C>A | CA479450267 | COL2A1 | c.3891G>T (p.Leu1297=) c.4098G>T (p.Leu1366=) n.3184G>T c.4242G>T (p.Leu1414=) c.4239G>T (p.Leu1413=) c.3186G>T (p.Leu1062=) c.4032G>T (p.Leu1344=) c.3552G>T (p.Leu1184=) | |
| 12 | g.47974308C= | CA2034471944 | COL2A1 | c.3891G= (p.Leu1297=) c.4098G= (p.Leu1366=) n.3184G= c.4242G= (p.Leu1414=) c.4239G= (p.Leu1413=) c.3186G= (p.Leu1062=) c.4032G= (p.Leu1344=) c.3552G= (p.Leu1184=) | |
| 12 | g.47974308C>G | CA479450265 | COL2A1 | c.3891G>C (p.Leu1297=) c.4098G>C (p.Leu1366=) n.3184G>C c.4242G>C (p.Leu1414=) c.4239G>C (p.Leu1413=) c.3186G>C (p.Leu1062=) c.4032G>C (p.Leu1344=) c.3552G>C (p.Leu1184=) | ClinVar dbSNP |
| 12 | g.47974308C>T | CA479450266 | COL2A1 | c.3891G>A (p.Leu1297=) c.4098G>A (p.Leu1366=) n.3184G>A c.4242G>A (p.Leu1414=) c.4239G>A (p.Leu1413=) c.3186G>A (p.Leu1062=) c.4032G>A (p.Leu1344=) c.3552G>A (p.Leu1184=) | |
| 12 | g.47974309A= | CA2034471948 | COL2A1 | c.3890T= (p.Leu1297=) c.4097T= (p.Leu1366=) n.3183T= c.4241T= (p.Leu1414=) c.4238T= (p.Leu1413=) c.3185T= (p.Leu1062=) c.4031T= (p.Leu1344=) c.3551T= (p.Leu1184=) | |
| 12 | g.47974309A>C | CA384533919 | COL2A1 | c.3890T>G (p.Leu1297Arg) c.4097T>G (p.Leu1366Arg) n.3183T>G c.4241T>G (p.Leu1414Arg) c.4238T>G (p.Leu1413Arg) c.3185T>G (p.Leu1062Arg) c.4031T>G (p.Leu1344Arg) c.3551T>G (p.Leu1184Arg) | |
| 12 | g.47974309A>G | CA384533921 | COL2A1 | c.3890T>C (p.Leu1297Pro) c.4097T>C (p.Leu1366Pro) n.3183T>C c.4241T>C (p.Leu1414Pro) c.4238T>C (p.Leu1413Pro) c.3185T>C (p.Leu1062Pro) c.4031T>C (p.Leu1344Pro) c.3551T>C (p.Leu1184Pro) | dbSNP |
| 12 | g.47974309A>T | CA384533922 | COL2A1 | c.3890T>A (p.Leu1297Gln) c.4097T>A (p.Leu1366Gln) n.3183T>A c.4241T>A (p.Leu1414Gln) c.4238T>A (p.Leu1413Gln) c.3185T>A (p.Leu1062Gln) c.4031T>A (p.Leu1344Gln) c.3551T>A (p.Leu1184Gln) | |
| 12 | g.47974310G>A | CA479450268 | COL2A1 | c.3889C>T (p.Leu1297=) c.4096C>T (p.Leu1366=) n.3182C>T c.4240C>T (p.Leu1414=) c.4237C>T (p.Leu1413=) c.3184C>T (p.Leu1062=) c.4030C>T (p.Leu1344=) c.3550C>T (p.Leu1184=) | |
| 12 | g.47974310G>C | CA384533923 | COL2A1 | c.3889C>G (p.Leu1297Val) c.4096C>G (p.Leu1366Val) n.3182C>G c.4240C>G (p.Leu1414Val) c.4237C>G (p.Leu1413Val) c.3184C>G (p.Leu1062Val) c.4030C>G (p.Leu1344Val) c.3550C>G (p.Leu1184Val) | |
| 12 | g.47974310G>T | CA384533924 | COL2A1 | c.3889C>A (p.Leu1297Met) c.4096C>A (p.Leu1366Met) n.3182C>A c.4240C>A (p.Leu1414Met) c.4237C>A (p.Leu1413Met) c.3184C>A (p.Leu1062Met) c.4030C>A (p.Leu1344Met) c.3550C>A (p.Leu1184Met) | |
| 12 | g.47974311A= | CA2034471954 | COL2A1 | c.3888T= (p.Asn1296=) c.4095T= (p.Asn1365=) n.3181T= c.4239T= (p.Asn1413=) c.4236T= (p.Asn1412=) c.3183T= (p.Asn1061=) c.4029T= (p.Asn1343=) c.3549T= (p.Asn1183=) | |
| 12 | g.47974311A>C | CA384533926 | COL2A1 | c.3888T>G (p.Asn1296Lys) c.4095T>G (p.Asn1365Lys) n.3181T>G c.4239T>G (p.Asn1413Lys) c.4236T>G (p.Asn1412Lys) c.3183T>G (p.Asn1061Lys) c.4029T>G (p.Asn1343Lys) c.3549T>G (p.Asn1183Lys) | |
| 12 | g.47974311A>G | CA6534538 | COL2A1 | c.3888T>C (p.Asn1296=) c.4095T>C (p.Asn1365=) n.3181T>C c.4239T>C (p.Asn1413=) c.4236T>C (p.Asn1412=) c.3183T>C (p.Asn1061=) c.4029T>C (p.Asn1343=) c.3549T>C (p.Asn1183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974311A>T | CA384533929 | COL2A1 | c.3888T>A (p.Asn1296Lys) c.4095T>A (p.Asn1365Lys) n.3181T>A c.4239T>A (p.Asn1413Lys) c.4236T>A (p.Asn1412Lys) c.3183T>A (p.Asn1061Lys) c.4029T>A (p.Asn1343Lys) c.3549T>A (p.Asn1183Lys) | |
| 12 | g.47974312T>A | CA6534539 | COL2A1 | c.3887A>T (p.Asn1296Ile) c.4094A>T (p.Asn1365Ile) n.3180A>T c.4238A>T (p.Asn1413Ile) c.4235A>T (p.Asn1412Ile) c.3182A>T (p.Asn1061Ile) c.4028A>T (p.Asn1343Ile) c.3548A>T (p.Asn1183Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974312T>C | CA384533931 | COL2A1 | c.3887A>G (p.Asn1296Ser) c.4094A>G (p.Asn1365Ser) n.3180A>G c.4238A>G (p.Asn1413Ser) c.4235A>G (p.Asn1412Ser) c.3182A>G (p.Asn1061Ser) c.4028A>G (p.Asn1343Ser) c.3548A>G (p.Asn1183Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974312T>G | CA384533933 | COL2A1 | c.3887A>C (p.Asn1296Thr) c.4094A>C (p.Asn1365Thr) n.3180A>C c.4238A>C (p.Asn1413Thr) c.4235A>C (p.Asn1412Thr) c.3182A>C (p.Asn1061Thr) c.4028A>C (p.Asn1343Thr) c.3548A>C (p.Asn1183Thr) | |
| 12 | g.47974312T= | CA2034471961 | COL2A1 | c.3887A= (p.Asn1296=) c.4094A= (p.Asn1365=) n.3180A= c.4238A= (p.Asn1413=) c.4235A= (p.Asn1412=) c.3182A= (p.Asn1061=) c.4028A= (p.Asn1343=) c.3548A= (p.Asn1183=) | |
| 12 | g.47974313T>A | CA6534540 | COL2A1 | c.3886A>T (p.Asn1296Tyr) c.4093A>T (p.Asn1365Tyr) n.3179A>T c.4237A>T (p.Asn1413Tyr) c.4234A>T (p.Asn1412Tyr) c.3181A>T (p.Asn1061Tyr) c.4027A>T (p.Asn1343Tyr) c.3547A>T (p.Asn1183Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974313T>C | CA384533937 | COL2A1 | c.3886A>G (p.Asn1296Asp) c.4093A>G (p.Asn1365Asp) n.3179A>G c.4237A>G (p.Asn1413Asp) c.4234A>G (p.Asn1412Asp) c.3181A>G (p.Asn1061Asp) c.4027A>G (p.Asn1343Asp) c.3547A>G (p.Asn1183Asp) | gnomAD v4 |
| 12 | g.47974313T>G | CA384533934 | COL2A1 | c.3886A>C (p.Asn1296His) c.4093A>C (p.Asn1365His) n.3179A>C c.4237A>C (p.Asn1413His) c.4234A>C (p.Asn1412His) c.3181A>C (p.Asn1061His) c.4027A>C (p.Asn1343His) c.3547A>C (p.Asn1183His) | |
| 12 | g.47974313T= | CA2034471965 | COL2A1 | c.3886A= (p.Asn1296=) c.4093A= (p.Asn1365=) n.3179A= c.4237A= (p.Asn1413=) c.4234A= (p.Asn1412=) c.3181A= (p.Asn1061=) c.4027A= (p.Asn1343=) c.3547A= (p.Asn1183=) | |
| 12 | g.47974314G>A | CA479450269 | COL2A1 | c.3885C>T (p.Asp1295=) c.4092C>T (p.Asp1364=) n.3178C>T c.4236C>T (p.Asp1412=) c.4233C>T (p.Asp1411=) c.3180C>T (p.Asp1060=) c.4026C>T (p.Asp1342=) c.3546C>T (p.Asp1182=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974314G>C | CA384533939 | COL2A1 | c.3885C>G (p.Asp1295Glu) c.4092C>G (p.Asp1364Glu) n.3178C>G c.4236C>G (p.Asp1412Glu) c.4233C>G (p.Asp1411Glu) c.3180C>G (p.Asp1060Glu) c.4026C>G (p.Asp1342Glu) c.3546C>G (p.Asp1182Glu) | |
| 12 | g.47974314G= | CA2034471971 | COL2A1 | c.3885C= (p.Asp1295=) c.4092C= (p.Asp1364=) n.3178C= c.4236C= (p.Asp1412=) c.4233C= (p.Asp1411=) c.3180C= (p.Asp1060=) c.4026C= (p.Asp1342=) c.3546C= (p.Asp1182=) | |
| 12 | g.47974314G>T | CA6534541 | COL2A1 | c.3885C>A (p.Asp1295Glu) c.4092C>A (p.Asp1364Glu) n.3178C>A c.4236C>A (p.Asp1412Glu) c.4233C>A (p.Asp1411Glu) c.3180C>A (p.Asp1060Glu) c.4026C>A (p.Asp1342Glu) c.3546C>A (p.Asp1182Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974315T>A | CA384533942 | COL2A1 | c.3884A>T (p.Asp1295Val) c.4091A>T (p.Asp1364Val) n.3177A>T c.4235A>T (p.Asp1412Val) c.4232A>T (p.Asp1411Val) c.3179A>T (p.Asp1060Val) c.4025A>T (p.Asp1342Val) c.3545A>T (p.Asp1182Val) | |
| 12 | g.47974315T>C | CA384533944 | COL2A1 | c.3884A>G (p.Asp1295Gly) c.4091A>G (p.Asp1364Gly) n.3177A>G c.4235A>G (p.Asp1412Gly) c.4232A>G (p.Asp1411Gly) c.3179A>G (p.Asp1060Gly) c.4025A>G (p.Asp1342Gly) c.3545A>G (p.Asp1182Gly) | COSMIC COSMIC |
| 12 | g.47974315T>G | CA384533946 | COL2A1 | c.3884A>C (p.Asp1295Ala) c.4091A>C (p.Asp1364Ala) n.3177A>C c.4235A>C (p.Asp1412Ala) c.4232A>C (p.Asp1411Ala) c.3179A>C (p.Asp1060Ala) c.4025A>C (p.Asp1342Ala) c.3545A>C (p.Asp1182Ala) | ClinVar dbSNP |
| 12 | g.47974316C>A | CA384533951 | COL2A1 | c.3883G>T (p.Asp1295Tyr) c.4090G>T (p.Asp1364Tyr) n.3176G>T c.4234G>T (p.Asp1412Tyr) c.4231G>T (p.Asp1411Tyr) c.3178G>T (p.Asp1060Tyr) c.4024G>T (p.Asp1342Tyr) c.3544G>T (p.Asp1182Tyr) | |
| 12 | g.47974316C= | CA2034472335 | COL2A1 | c.3883G= (p.Asp1295=) c.4090G= (p.Asp1364=) n.3176G= c.4234G= (p.Asp1412=) c.4231G= (p.Asp1411=) c.3178G= (p.Asp1060=) c.4024G= (p.Asp1342=) c.3544G= (p.Asp1182=) | |
| 12 | g.47974316C>G | CA384533949 | COL2A1 | c.3883G>C (p.Asp1295His) c.4090G>C (p.Asp1364His) n.3176G>C c.4234G>C (p.Asp1412His) c.4231G>C (p.Asp1411His) c.3178G>C (p.Asp1060His) c.4024G>C (p.Asp1342His) c.3544G>C (p.Asp1182His) | |
| 12 | g.47974316C>T | CA6534542 | COL2A1 | c.3883G>A (p.Asp1295Asn) c.4090G>A (p.Asp1364Asn) n.3176G>A c.4234G>A (p.Asp1412Asn) c.4231G>A (p.Asp1411Asn) c.3178G>A (p.Asp1060Asn) c.4024G>A (p.Asp1342Asn) c.3544G>A (p.Asp1182Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974317A= | CA2034472338 | COL2A1 | c.3882T= (p.Asp1294=) c.4089T= (p.Asp1363=) n.3175T= c.4233T= (p.Asp1411=) c.4230T= (p.Asp1410=) c.3177T= (p.Asp1059=) c.4023T= (p.Asp1341=) c.3543T= (p.Asp1181=) | |
| 12 | g.47974317A>C | CA384533953 | COL2A1 | c.3882T>G (p.Asp1294Glu) c.4089T>G (p.Asp1363Glu) n.3175T>G c.4233T>G (p.Asp1411Glu) c.4230T>G (p.Asp1410Glu) c.3177T>G (p.Asp1059Glu) c.4023T>G (p.Asp1341Glu) c.3543T>G (p.Asp1181Glu) | |
| 12 | g.47974317A>G | CA6534543 | COL2A1 | c.3882T>C (p.Asp1294=) c.4089T>C (p.Asp1363=) n.3175T>C c.4233T>C (p.Asp1411=) c.4230T>C (p.Asp1410=) c.3177T>C (p.Asp1059=) c.4023T>C (p.Asp1341=) c.3543T>C (p.Asp1181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974317A>T | CA384533956 | COL2A1 | c.3882T>A (p.Asp1294Glu) c.4089T>A (p.Asp1363Glu) n.3175T>A c.4233T>A (p.Asp1411Glu) c.4230T>A (p.Asp1410Glu) c.3177T>A (p.Asp1059Glu) c.4023T>A (p.Asp1341Glu) c.3543T>A (p.Asp1181Glu) | |
| 12 | g.47974318del | CA2695216616 | COL2A1 | c.3881del (p.Asp1294ValfsTer13) c.4088del (p.Asp1363ValfsTer13) n.3174del c.4232del (p.Asp1411ValfsTer13) c.4229del (p.Asp1410ValfsTer13) c.3176del (p.Asp1059ValfsTer13) c.4022del (p.Asp1341ValfsTer13) c.3542del (p.Asp1181ValfsTer13) | |
| 12 | g.47974318T>A | CA384533958 | COL2A1 | c.3881A>T (p.Asp1294Val) c.4088A>T (p.Asp1363Val) n.3174A>T c.4232A>T (p.Asp1411Val) c.4229A>T (p.Asp1410Val) c.3176A>T (p.Asp1059Val) c.4022A>T (p.Asp1341Val) c.3542A>T (p.Asp1181Val) | |
| 12 | g.47974318T>C | CA6534544 | COL2A1 | c.3881A>G (p.Asp1294Gly) c.4088A>G (p.Asp1363Gly) n.3174A>G c.4232A>G (p.Asp1411Gly) c.4229A>G (p.Asp1410Gly) c.3176A>G (p.Asp1059Gly) c.4022A>G (p.Asp1341Gly) c.3542A>G (p.Asp1181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974318T>G | CA384533961 | COL2A1 | c.3881A>C (p.Asp1294Ala) c.4088A>C (p.Asp1363Ala) n.3174A>C c.4232A>C (p.Asp1411Ala) c.4229A>C (p.Asp1410Ala) c.3176A>C (p.Asp1059Ala) c.4022A>C (p.Asp1341Ala) c.3542A>C (p.Asp1181Ala) | |
| 12 | g.47974318T= | CA2034472343 | COL2A1 | c.3881A= (p.Asp1294=) c.4088A= (p.Asp1363=) n.3174A= c.4232A= (p.Asp1411=) c.4229A= (p.Asp1410=) c.3176A= (p.Asp1059=) c.4022A= (p.Asp1341=) c.3542A= (p.Asp1181=) | |
| 12 | g.47974319C>A | CA384533963 | COL2A1 | c.3880G>T (p.Asp1294Tyr) c.4087G>T (p.Asp1363Tyr) n.3173G>T c.4231G>T (p.Asp1411Tyr) c.4228G>T (p.Asp1410Tyr) c.3175G>T (p.Asp1059Tyr) c.4021G>T (p.Asp1341Tyr) c.3541G>T (p.Asp1181Tyr) | |
| 12 | g.47974319C>G | CA384533967 | COL2A1 | c.3880G>C (p.Asp1294His) c.4087G>C (p.Asp1363His) n.3173G>C c.4231G>C (p.Asp1411His) c.4228G>C (p.Asp1410His) c.3175G>C (p.Asp1059His) c.4021G>C (p.Asp1341His) c.3541G>C (p.Asp1181His) | |
| 12 | g.47974319C>T | CA384533965 | COL2A1 | c.3880G>A (p.Asp1294Asn) c.4087G>A (p.Asp1363Asn) n.3173G>A c.4231G>A (p.Asp1411Asn) c.4228G>A (p.Asp1410Asn) c.3175G>A (p.Asp1059Asn) c.4021G>A (p.Asp1341Asn) c.3541G>A (p.Asp1181Asn) | |
| 12 | g.47974320T>A | CA479450270 | COL2A1 | c.3879A>T (p.Gly1293=) c.4086A>T (p.Gly1362=) n.3172A>T c.4230A>T (p.Gly1410=) c.4227A>T (p.Gly1409=) c.3174A>T (p.Gly1058=) c.4020A>T (p.Gly1340=) c.3540A>T (p.Gly1180=) | |
| 12 | g.47974320T>C | CA479450271 | COL2A1 | c.3879A>G (p.Gly1293=) c.4086A>G (p.Gly1362=) n.3172A>G c.4230A>G (p.Gly1410=) c.4227A>G (p.Gly1409=) c.3174A>G (p.Gly1058=) c.4020A>G (p.Gly1340=) c.3540A>G (p.Gly1180=) | |
| 12 | g.47974320T>G | CA6534545 | COL2A1 | c.3879A>C (p.Gly1293=) c.4086A>C (p.Gly1362=) n.3172A>C c.4230A>C (p.Gly1410=) c.4227A>C (p.Gly1409=) c.3174A>C (p.Gly1058=) c.4020A>C (p.Gly1340=) c.3540A>C (p.Gly1180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974320T= | CA2034472346 | COL2A1 | c.3879A= (p.Gly1293=) c.4086A= (p.Gly1362=) n.3172A= c.4230A= (p.Gly1410=) c.4227A= (p.Gly1409=) c.3174A= (p.Gly1058=) c.4020A= (p.Gly1340=) c.3540A= (p.Gly1180=) | |
| 12 | g.47974321C>A | CA384533971 | COL2A1 | c.3878G>T (p.Gly1293Val) c.4085G>T (p.Gly1362Val) n.3171G>T c.4229G>T (p.Gly1410Val) c.4226G>T (p.Gly1409Val) c.3173G>T (p.Gly1058Val) c.4019G>T (p.Gly1340Val) c.3539G>T (p.Gly1180Val) | |
| 12 | g.47974321C>G | CA384533972 | COL2A1 | c.3878G>C (p.Gly1293Ala) c.4085G>C (p.Gly1362Ala) n.3171G>C c.4229G>C (p.Gly1410Ala) c.4226G>C (p.Gly1409Ala) c.3173G>C (p.Gly1058Ala) c.4019G>C (p.Gly1340Ala) c.3539G>C (p.Gly1180Ala) | COSMIC COSMIC |
| 12 | g.47974321C>T | CA384533974 | COL2A1 | c.3878G>A (p.Gly1293Glu) c.4085G>A (p.Gly1362Glu) n.3171G>A c.4229G>A (p.Gly1410Glu) c.4226G>A (p.Gly1409Glu) c.3173G>A (p.Gly1058Glu) c.4019G>A (p.Gly1340Glu) c.3539G>A (p.Gly1180Glu) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47974322del | CA2580085614 | COL2A1 | c.3878del (p.Gly1293GlufsTer14) c.4085del (p.Gly1362GlufsTer14) n.3171del c.4229del (p.Gly1410GlufsTer14) c.4226del (p.Gly1409GlufsTer14) c.3173del (p.Gly1058GlufsTer14) c.4019del (p.Gly1340GlufsTer14) c.3539del (p.Gly1180GlufsTer14) | ClinVar |
| 12 | g.47974322C>A | CA384533977 | COL2A1 | c.3877G>T (p.Gly1293Ter) c.4084G>T (p.Gly1362Ter) n.3170G>T c.4228G>T (p.Gly1410Ter) c.4225G>T (p.Gly1409Ter) c.3172G>T (p.Gly1058Ter) c.4018G>T (p.Gly1340Ter) c.3538G>T (p.Gly1180Ter) | |
| 12 | g.47974322C>G | CA384533978 | COL2A1 | c.3877G>C (p.Gly1293Arg) c.4084G>C (p.Gly1362Arg) n.3170G>C c.4228G>C (p.Gly1410Arg) c.4225G>C (p.Gly1409Arg) c.3172G>C (p.Gly1058Arg) c.4018G>C (p.Gly1340Arg) c.3538G>C (p.Gly1180Arg) | |
| 12 | g.47974322C>T | CA384533979 | COL2A1 | c.3877G>A (p.Gly1293Arg) c.4084G>A (p.Gly1362Arg) n.3170G>A c.4228G>A (p.Gly1410Arg) c.4225G>A (p.Gly1409Arg) c.3172G>A (p.Gly1058Arg) c.4018G>A (p.Gly1340Arg) c.3538G>A (p.Gly1180Arg) | |
| 12 | g.47974323A= | CA2034472350 | COL2A1 | c.3876T= (p.Tyr1292=) c.4083T= (p.Tyr1361=) n.3169T= c.4227T= (p.Tyr1409=) c.4224T= (p.Tyr1408=) c.3171T= (p.Tyr1057=) c.4017T= (p.Tyr1339=) c.3537T= (p.Tyr1179=) | |
| 12 | g.47974323A>C | CA384533981 | COL2A1 | c.3876T>G (p.Tyr1292Ter) c.4083T>G (p.Tyr1361Ter) n.3169T>G c.4227T>G (p.Tyr1409Ter) c.4224T>G (p.Tyr1408Ter) c.3171T>G (p.Tyr1057Ter) c.4017T>G (p.Tyr1339Ter) c.3537T>G (p.Tyr1179Ter) | |
| 12 | g.47974323A>G | CA479450272 | COL2A1 | c.3876T>C (p.Tyr1292=) c.4083T>C (p.Tyr1361=) n.3169T>C c.4227T>C (p.Tyr1409=) c.4224T>C (p.Tyr1408=) c.3171T>C (p.Tyr1057=) c.4017T>C (p.Tyr1339=) c.3537T>C (p.Tyr1179=) | dbSNP |
| 12 | g.47974323A>T | CA384533983 | COL2A1 | c.3876T>A (p.Tyr1292Ter) c.4083T>A (p.Tyr1361Ter) n.3169T>A c.4227T>A (p.Tyr1409Ter) c.4224T>A (p.Tyr1408Ter) c.3171T>A (p.Tyr1057Ter) c.4017T>A (p.Tyr1339Ter) c.3537T>A (p.Tyr1179Ter) | |
| 12 | g.47974324T>A | CA384533985 | COL2A1 | c.3875A>T (p.Tyr1292Phe) c.4082A>T (p.Tyr1361Phe) n.3168A>T c.4226A>T (p.Tyr1409Phe) c.4223A>T (p.Tyr1408Phe) c.3170A>T (p.Tyr1057Phe) c.4016A>T (p.Tyr1339Phe) c.3536A>T (p.Tyr1179Phe) | |
| 12 | g.47974324T>C | CA384533987 | COL2A1 | c.3875A>G (p.Tyr1292Cys) c.4082A>G (p.Tyr1361Cys) n.3168A>G c.4226A>G (p.Tyr1409Cys) c.4223A>G (p.Tyr1408Cys) c.3170A>G (p.Tyr1057Cys) c.4016A>G (p.Tyr1339Cys) c.3536A>G (p.Tyr1179Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974324T>G | CA384533989 | COL2A1 | c.3875A>C (p.Tyr1292Ser) c.4082A>C (p.Tyr1361Ser) n.3168A>C c.4226A>C (p.Tyr1409Ser) c.4223A>C (p.Tyr1408Ser) c.3170A>C (p.Tyr1057Ser) c.4016A>C (p.Tyr1339Ser) c.3536A>C (p.Tyr1179Ser) | |
| 12 | g.47974324T= | CA2034472354 | COL2A1 | c.3875A= (p.Tyr1292=) c.4082A= (p.Tyr1361=) n.3168A= c.4226A= (p.Tyr1409=) c.4223A= (p.Tyr1408=) c.3170A= (p.Tyr1057=) c.4016A= (p.Tyr1339=) c.3536A= (p.Tyr1179=) | |
| 12 | g.47974325A>C | CA384533993 | COL2A1 | c.3874T>G (p.Tyr1292Asp) c.4081T>G (p.Tyr1361Asp) n.3167T>G c.4225T>G (p.Tyr1409Asp) c.4222T>G (p.Tyr1408Asp) c.3169T>G (p.Tyr1057Asp) c.4015T>G (p.Tyr1339Asp) c.3535T>G (p.Tyr1179Asp) | ClinVar |
| 12 | g.47974325A>G | CA384533995 | COL2A1 | c.3874T>C (p.Tyr1292His) c.4081T>C (p.Tyr1361His) n.3167T>C c.4225T>C (p.Tyr1409His) c.4222T>C (p.Tyr1408His) c.3169T>C (p.Tyr1057His) c.4015T>C (p.Tyr1339His) c.3535T>C (p.Tyr1179His) | |
| 12 | g.47974325A>T | CA384533991 | COL2A1 | c.3874T>A (p.Tyr1292Asn) c.4081T>A (p.Tyr1361Asn) n.3167T>A c.4225T>A (p.Tyr1409Asn) c.4222T>A (p.Tyr1408Asn) c.3169T>A (p.Tyr1057Asn) c.4015T>A (p.Tyr1339Asn) c.3535T>A (p.Tyr1179Asn) | dbSNP |
| 12 | g.47974326G>A | CA479450273 | COL2A1 | c.3873C>T (p.Ser1291=) c.4080C>T (p.Ser1360=) n.3166C>T c.4224C>T (p.Ser1408=) c.4221C>T (p.Ser1407=) c.3168C>T (p.Ser1056=) c.4014C>T (p.Ser1338=) c.3534C>T (p.Ser1178=) | gnomAD v4 |
| 12 | g.47974326G>C | CA384533998 | COL2A1 | c.3873C>G (p.Ser1291Arg) c.4080C>G (p.Ser1360Arg) n.3166C>G c.4224C>G (p.Ser1408Arg) c.4221C>G (p.Ser1407Arg) c.3168C>G (p.Ser1056Arg) c.4014C>G (p.Ser1338Arg) c.3534C>G (p.Ser1178Arg) | |
| 12 | g.47974326G>T | CA384533997 | COL2A1 | c.3873C>A (p.Ser1291Arg) c.4080C>A (p.Ser1360Arg) n.3166C>A c.4224C>A (p.Ser1408Arg) c.4221C>A (p.Ser1407Arg) c.3168C>A (p.Ser1056Arg) c.4014C>A (p.Ser1338Arg) c.3534C>A (p.Ser1178Arg) | |
| 12 | g.47974327C>A | CA384534004 | COL2A1 | c.3872G>T (p.Ser1291Ile) c.4079G>T (p.Ser1360Ile) n.3165G>T c.4223G>T (p.Ser1408Ile) c.4220G>T (p.Ser1407Ile) c.3167G>T (p.Ser1056Ile) c.4013G>T (p.Ser1338Ile) c.3533G>T (p.Ser1178Ile) | |
| 12 | g.47974327C>G | CA384534000 | COL2A1 | c.3872G>C (p.Ser1291Thr) c.4079G>C (p.Ser1360Thr) n.3165G>C c.4223G>C (p.Ser1408Thr) c.4220G>C (p.Ser1407Thr) c.3167G>C (p.Ser1056Thr) c.4013G>C (p.Ser1338Thr) c.3533G>C (p.Ser1178Thr) | |
| 12 | g.47974327C>T | CA384534002 | COL2A1 | c.3872G>A (p.Ser1291Asn) c.4079G>A (p.Ser1360Asn) n.3165G>A c.4223G>A (p.Ser1408Asn) c.4220G>A (p.Ser1407Asn) c.3167G>A (p.Ser1056Asn) c.4013G>A (p.Ser1338Asn) c.3533G>A (p.Ser1178Asn) | |
| 12 | g.47974328T>A | CA384534006 | COL2A1 | c.3871A>T (p.Ser1291Cys) c.4078A>T (p.Ser1360Cys) n.3164A>T c.4222A>T (p.Ser1408Cys) c.4219A>T (p.Ser1407Cys) c.3166A>T (p.Ser1056Cys) c.4012A>T (p.Ser1338Cys) c.3532A>T (p.Ser1178Cys) | |
| 12 | g.47974328T>C | CA384534007 | COL2A1 | c.3871A>G (p.Ser1291Gly) c.4078A>G (p.Ser1360Gly) n.3164A>G c.4222A>G (p.Ser1408Gly) c.4219A>G (p.Ser1407Gly) c.3166A>G (p.Ser1056Gly) c.4012A>G (p.Ser1338Gly) c.3532A>G (p.Ser1178Gly) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974328T>G | CA384534008 | COL2A1 | c.3871A>C (p.Ser1291Arg) c.4078A>C (p.Ser1360Arg) n.3164A>C c.4222A>C (p.Ser1408Arg) c.4219A>C (p.Ser1407Arg) c.3166A>C (p.Ser1056Arg) c.4012A>C (p.Ser1338Arg) c.3532A>C (p.Ser1178Arg) | |
| 12 | g.47974329G>A | CA479450274 | COL2A1 | c.3870C>T (p.Phe1290=) c.4077C>T (p.Phe1359=) n.3163C>T c.4221C>T (p.Phe1407=) c.4218C>T (p.Phe1406=) c.3165C>T (p.Phe1055=) c.4011C>T (p.Phe1337=) c.3531C>T (p.Phe1177=) | |
| 12 | g.47974329G>C | CA384534010 | COL2A1 | c.3870C>G (p.Phe1290Leu) c.4077C>G (p.Phe1359Leu) n.3163C>G c.4221C>G (p.Phe1407Leu) c.4218C>G (p.Phe1406Leu) c.3165C>G (p.Phe1055Leu) c.4011C>G (p.Phe1337Leu) c.3531C>G (p.Phe1177Leu) | |
| 12 | g.47974329G>T | CA384534011 | COL2A1 | c.3870C>A (p.Phe1290Leu) c.4077C>A (p.Phe1359Leu) n.3163C>A c.4221C>A (p.Phe1407Leu) c.4218C>A (p.Phe1406Leu) c.3165C>A (p.Phe1055Leu) c.4011C>A (p.Phe1337Leu) c.3531C>A (p.Phe1177Leu) | |
| 12 | g.47974330A>C | CA384534013 | COL2A1 | c.3869T>G (p.Phe1290Cys) c.4076T>G (p.Phe1359Cys) n.3162T>G c.4220T>G (p.Phe1407Cys) c.4217T>G (p.Phe1406Cys) c.3164T>G (p.Phe1055Cys) c.4010T>G (p.Phe1337Cys) c.3530T>G (p.Phe1177Cys) | |
| 12 | g.47974330A>G | CA384534015 | COL2A1 | c.3869T>C (p.Phe1290Ser) c.4076T>C (p.Phe1359Ser) n.3162T>C c.4220T>C (p.Phe1407Ser) c.4217T>C (p.Phe1406Ser) c.3164T>C (p.Phe1055Ser) c.4010T>C (p.Phe1337Ser) c.3530T>C (p.Phe1177Ser) | |
| 12 | g.47974330A>T | CA384534017 | COL2A1 | c.3869T>A (p.Phe1290Tyr) c.4076T>A (p.Phe1359Tyr) n.3162T>A c.4220T>A (p.Phe1407Tyr) c.4217T>A (p.Phe1406Tyr) c.3164T>A (p.Phe1055Tyr) c.4010T>A (p.Phe1337Tyr) c.3530T>A (p.Phe1177Tyr) | |
| 12 | g.47974331A>C | CA384534020 | COL2A1 | c.3868T>G (p.Phe1290Val) c.4075T>G (p.Phe1359Val) n.3161T>G c.4219T>G (p.Phe1407Val) c.4216T>G (p.Phe1406Val) c.3163T>G (p.Phe1055Val) c.4009T>G (p.Phe1337Val) c.3529T>G (p.Phe1177Val) | |
| 12 | g.47974331A>G | CA384534022 | COL2A1 | c.3868T>C (p.Phe1290Leu) c.4075T>C (p.Phe1359Leu) n.3161T>C c.4219T>C (p.Phe1407Leu) c.4216T>C (p.Phe1406Leu) c.3163T>C (p.Phe1055Leu) c.4009T>C (p.Phe1337Leu) c.3529T>C (p.Phe1177Leu) | |
| 12 | g.47974331A>T | CA384534023 | COL2A1 | c.3868T>A (p.Phe1290Ile) c.4075T>A (p.Phe1359Ile) n.3161T>A c.4219T>A (p.Phe1407Ile) c.4216T>A (p.Phe1406Ile) c.3163T>A (p.Phe1055Ile) c.4009T>A (p.Phe1337Ile) c.3529T>A (p.Phe1177Ile) | |
| 12 | g.47974332C>A | CA384534029 | COL2A1 | c.3868-1G>T (n.3868-1G>T) c.4075-1G>T (n.4075-1G>T) n.3161-1G>T c.4219-1G>T (n.4219-1G>T) c.4216-1G>T (n.4216-1G>T) c.3163-1G>T (n.3163-1G>T) c.4009-1G>T (n.4009-1G>T) c.3529-1G>T (n.3529-1G>T) | ClinVar dbSNP |
| 12 | g.47974332C>G | CA384534026 | COL2A1 | c.3868-1G>C (n.3868-1G>C) c.4075-1G>C (n.4075-1G>C) n.3161-1G>C c.4219-1G>C (n.4219-1G>C) c.4216-1G>C (n.4216-1G>C) c.3163-1G>C (n.3163-1G>C) c.4009-1G>C (n.4009-1G>C) c.3529-1G>C (n.3529-1G>C) | ClinVar dbSNP |
| 12 | g.47974332C>T | CA384534028 | COL2A1 | c.3868-1G>A (n.3868-1G>A) c.4075-1G>A (n.4075-1G>A) n.3161-1G>A c.4219-1G>A (n.4219-1G>A) c.4216-1G>A (n.4216-1G>A) c.3163-1G>A (n.3163-1G>A) c.4009-1G>A (n.4009-1G>A) c.3529-1G>A (n.3529-1G>A) | |
| 12 | g.47974333T>A | CA384534032 | COL2A1 | c.3868-2A>T (n.3868-2A>T) c.4075-2A>T (n.4075-2A>T) n.3161-2A>T c.4219-2A>T (n.4219-2A>T) c.4216-2A>T (n.4216-2A>T) c.3163-2A>T (n.3163-2A>T) c.4009-2A>T (n.4009-2A>T) c.3529-2A>T (n.3529-2A>T) | |
| 12 | g.47974333T>C | CA384534034 | COL2A1 | c.3868-2A>G (n.3868-2A>G) c.4075-2A>G (n.4075-2A>G) n.3161-2A>G c.4219-2A>G (n.4219-2A>G) c.4216-2A>G (n.4216-2A>G) c.3163-2A>G (n.3163-2A>G) c.4009-2A>G (n.4009-2A>G) c.3529-2A>G (n.3529-2A>G) | |
| 12 | g.47974333T>G | CA384534036 | COL2A1 | c.3868-2A>C (n.3868-2A>C) c.4075-2A>C (n.4075-2A>C) n.3161-2A>C c.4219-2A>C (n.4219-2A>C) c.4216-2A>C (n.4216-2A>C) c.3163-2A>C (n.3163-2A>C) c.4009-2A>C (n.4009-2A>C) c.3529-2A>C (n.3529-2A>C) | |
| 12 | g.47974334G>A | CA6534546 | COL2A1 | c.3868-3C>T (n.3868-3C>T) c.4075-3C>T (n.4075-3C>T) n.3161-3C>T c.4219-3C>T (n.4219-3C>T) c.4216-3C>T (n.4216-3C>T) c.3163-3C>T (n.3163-3C>T) c.4009-3C>T (n.4009-3C>T) c.3529-3C>T (n.3529-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974334G>C | CA645369588 | COL2A1 | c.3868-3C>G (n.3868-3C>G) c.4075-3C>G (n.4075-3C>G) n.3161-3C>G c.4219-3C>G (n.4219-3C>G) c.4216-3C>G (n.4216-3C>G) c.3163-3C>G (n.3163-3C>G) c.4009-3C>G (n.4009-3C>G) c.3529-3C>G (n.3529-3C>G) | ClinVar dbSNP |
| 12 | g.47974334G= | CA2034472362 | COL2A1 | c.3868-3C= (n.3868-3C=) c.4075-3C= (n.4075-3C=) n.3161-3C= c.4219-3C= (n.4219-3C=) c.4216-3C= (n.4216-3C=) c.3163-3C= (n.3163-3C=) c.4009-3C= (n.4009-3C=) c.3529-3C= (n.3529-3C=) | |
| 12 | g.47974334G>T | CA605231540 | COL2A1 | c.3868-3C>A (n.3868-3C>A) c.4075-3C>A (n.4075-3C>A) n.3161-3C>A c.4219-3C>A (n.4219-3C>A) c.4216-3C>A (n.4216-3C>A) c.3163-3C>A (n.3163-3C>A) c.4009-3C>A (n.4009-3C>A) c.3529-3C>A (n.3529-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974337G>A | CA645570627 | COL2A1 | c.3868-6C>T (n.3868-6C>T) c.4075-6C>T (n.4075-6C>T) n.3161-6C>T c.4219-6C>T (n.4219-6C>T) c.4216-6C>T (n.4216-6C>T) c.3163-6C>T (n.3163-6C>T) c.4009-6C>T (n.4009-6C>T) c.3529-6C>T (n.3529-6C>T) | COSMIC COSMIC |
| 12 | g.47974338G>A | CA2580085616 | COL2A1 | c.3868-7C>T (n.3868-7C>T) c.4075-7C>T (n.4075-7C>T) n.3161-7C>T c.4219-7C>T (n.4219-7C>T) c.4216-7C>T (n.4216-7C>T) c.3163-7C>T (n.3163-7C>T) c.4009-7C>T (n.4009-7C>T) c.3529-7C>T (n.3529-7C>T) | ClinVar |
| 12 | g.47974339G>T | CA2618504471 | COL2A1 | c.3868-8C>A (n.3868-8C>A) c.4075-8C>A (n.4075-8C>A) n.3161-8C>A c.4219-8C>A (n.4219-8C>A) c.4216-8C>A (n.4216-8C>A) c.3163-8C>A (n.3163-8C>A) c.4009-8C>A (n.4009-8C>A) c.3529-8C>A (n.3529-8C>A) | gnomAD v4 |
| 12 | g.47974340G>T | CA2618504473 | COL2A1 | c.3868-9C>A (n.3868-9C>A) c.4075-9C>A (n.4075-9C>A) n.3161-9C>A c.4219-9C>A (n.4219-9C>A) c.4216-9C>A (n.4216-9C>A) c.3163-9C>A (n.3163-9C>A) c.4009-9C>A (n.4009-9C>A) c.3529-9C>A (n.3529-9C>A) | gnomAD v4 |
| 12 | g.47974341C>T | CA2618504474 | COL2A1 | c.3868-10G>A (n.3868-10G>A) c.4075-10G>A (n.4075-10G>A) n.3161-10G>A c.4219-10G>A (n.4219-10G>A) c.4216-10G>A (n.4216-10G>A) c.3163-10G>A (n.3163-10G>A) c.4009-10G>A (n.4009-10G>A) c.3529-10G>A (n.3529-10G>A) | gnomAD v4 |
| 12 | g.47974341_47974351del | CA2795861646 | COL2A1 | c.3868-20_3868-10del (n.3868-20_3868-10del) c.4075-20_4075-10del (n.4075-20_4075-10del) n.3161-20_3161-10del c.4219-20_4219-10del (n.4219-20_4219-10del) c.4216-20_4216-10del (n.4216-20_4216-10del) c.3163-20_3163-10del (n.3163-20_3163-10del) c.4009-20_4009-10del (n.4009-20_4009-10del) c.3529-20_3529-10del (n.3529-20_3529-10del) | |
| 12 | g.47974343G>A | CA6534547 | COL2A1 | c.3868-12C>T (n.3868-12C>T) c.4075-12C>T (n.4075-12C>T) n.3161-12C>T c.4219-12C>T (n.4219-12C>T) c.4216-12C>T (n.4216-12C>T) c.3163-12C>T (n.3163-12C>T) c.4009-12C>T (n.4009-12C>T) c.3529-12C>T (n.3529-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974343G= | CA2034472368 | COL2A1 | c.3868-12C= (n.3868-12C=) c.4075-12C= (n.4075-12C=) n.3161-12C= c.4219-12C= (n.4219-12C=) c.4216-12C= (n.4216-12C=) c.3163-12C= (n.3163-12C=) c.4009-12C= (n.4009-12C=) c.3529-12C= (n.3529-12C=) | |
| 12 | g.47974344A= | CA2034472370 | COL2A1 | c.3868-13T= (n.3868-13T=) c.4075-13T= (n.4075-13T=) n.3161-13T= c.4219-13T= (n.4219-13T=) c.4216-13T= (n.4216-13T=) c.3163-13T= (n.3163-13T=) c.4009-13T= (n.4009-13T=) c.3529-13T= (n.3529-13T=) | |
| 12 | g.47974344A>G | CA6534548 | COL2A1 | c.3868-13T>C (n.3868-13T>C) c.4075-13T>C (n.4075-13T>C) n.3161-13T>C c.4219-13T>C (n.4219-13T>C) c.4216-13T>C (n.4216-13T>C) c.3163-13T>C (n.3163-13T>C) c.4009-13T>C (n.4009-13T>C) c.3529-13T>C (n.3529-13T>C) | dbSNP ExAC gnomAD v2 |
| 12 | g.47974345G>A | CA605231541 | COL2A1 | c.3868-14C>T (n.3868-14C>T) c.4075-14C>T (n.4075-14C>T) n.3161-14C>T c.4219-14C>T (n.4219-14C>T) c.4216-14C>T (n.4216-14C>T) c.3163-14C>T (n.3163-14C>T) c.4009-14C>T (n.4009-14C>T) c.3529-14C>T (n.3529-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974345G>C | CA6534549 | COL2A1 | c.3868-14C>G (n.3868-14C>G) c.4075-14C>G (n.4075-14C>G) n.3161-14C>G c.4219-14C>G (n.4219-14C>G) c.4216-14C>G (n.4216-14C>G) c.3163-14C>G (n.3163-14C>G) c.4009-14C>G (n.4009-14C>G) c.3529-14C>G (n.3529-14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974345G= | CA1630855642 | COL2A1 | c.3868-14C= (n.3868-14C=) c.4075-14C= (n.4075-14C=) n.3161-14C= c.4219-14C= (n.4219-14C=) c.4216-14C= (n.4216-14C=) c.3163-14C= (n.3163-14C=) c.4009-14C= (n.4009-14C=) c.3529-14C= (n.3529-14C=) | |
| 12 | g.47974345G>T | CA2581085768 | COL2A1 | c.3868-14C>A (n.3868-14C>A) c.4075-14C>A (n.4075-14C>A) n.3161-14C>A c.4219-14C>A (n.4219-14C>A) c.4216-14C>A (n.4216-14C>A) c.3163-14C>A (n.3163-14C>A) c.4009-14C>A (n.4009-14C>A) c.3529-14C>A (n.3529-14C>A) | |
| 12 | g.47974346A= | CA2034472376 | COL2A1 | c.3868-15T= (n.3868-15T=) c.4075-15T= (n.4075-15T=) n.3161-15T= c.4219-15T= (n.4219-15T=) c.4216-15T= (n.4216-15T=) c.3163-15T= (n.3163-15T=) c.4009-15T= (n.4009-15T=) c.3529-15T= (n.3529-15T=) | |
| 12 | g.47974346A>G | CA6534550 | COL2A1 | c.3868-15T>C (n.3868-15T>C) c.4075-15T>C (n.4075-15T>C) n.3161-15T>C c.4219-15T>C (n.4219-15T>C) c.4216-15T>C (n.4216-15T>C) c.3163-15T>C (n.3163-15T>C) c.4009-15T>C (n.4009-15T>C) c.3529-15T>C (n.3529-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974347G>A | CA6534551 | COL2A1 | c.3868-16C>T (n.3868-16C>T) c.4075-16C>T (n.4075-16C>T) n.3161-16C>T c.4219-16C>T (n.4219-16C>T) c.4216-16C>T (n.4216-16C>T) c.3163-16C>T (n.3163-16C>T) c.4009-16C>T (n.4009-16C>T) c.3529-16C>T (n.3529-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974347G>C | CA2034472381 | COL2A1 | c.3868-16C>G (n.3868-16C>G) c.4075-16C>G (n.4075-16C>G) n.3161-16C>G c.4219-16C>G (n.4219-16C>G) c.4216-16C>G (n.4216-16C>G) c.3163-16C>G (n.3163-16C>G) c.4009-16C>G (n.4009-16C>G) c.3529-16C>G (n.3529-16C>G) | dbSNP |
| 12 | g.47974347G= | CA2034472379 | COL2A1 | c.3868-16C= (n.3868-16C=) c.4075-16C= (n.4075-16C=) n.3161-16C= c.4219-16C= (n.4219-16C=) c.4216-16C= (n.4216-16C=) c.3163-16C= (n.3163-16C=) c.4009-16C= (n.4009-16C=) c.3529-16C= (n.3529-16C=) | |
| 12 | g.47974348C= | CA2034472382 | COL2A1 | c.3868-17G= (n.3868-17G=) c.4075-17G= (n.4075-17G=) n.3161-17G= c.4219-17G= (n.4219-17G=) c.4216-17G= (n.4216-17G=) c.3163-17G= (n.3163-17G=) c.4009-17G= (n.4009-17G=) c.3529-17G= (n.3529-17G=) | |
| 12 | g.47974348C>G | CA2580085618 | COL2A1 | c.3868-17G>C (n.3868-17G>C) c.4075-17G>C (n.4075-17G>C) n.3161-17G>C c.4219-17G>C (n.4219-17G>C) c.4216-17G>C (n.4216-17G>C) c.3163-17G>C (n.3163-17G>C) c.4009-17G>C (n.4009-17G>C) c.3529-17G>C (n.3529-17G>C) | ClinVar |
| 12 | g.47974348C>T | CA6534552 | COL2A1 | c.3868-17G>A (n.3868-17G>A) c.4075-17G>A (n.4075-17G>A) n.3161-17G>A c.4219-17G>A (n.4219-17G>A) c.4216-17G>A (n.4216-17G>A) c.3163-17G>A (n.3163-17G>A) c.4009-17G>A (n.4009-17G>A) c.3529-17G>A (n.3529-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974349G>A | CA6534554 | COL2A1 | c.3868-18C>T (n.3868-18C>T) c.4075-18C>T (n.4075-18C>T) n.3161-18C>T c.4219-18C>T (n.4219-18C>T) c.4216-18C>T (n.4216-18C>T) c.3163-18C>T (n.3163-18C>T) c.4009-18C>T (n.4009-18C>T) c.3529-18C>T (n.3529-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974349G>C | CA6534553 | COL2A1 | c.3868-18C>G (n.3868-18C>G) c.4075-18C>G (n.4075-18C>G) n.3161-18C>G c.4219-18C>G (n.4219-18C>G) c.4216-18C>G (n.4216-18C>G) c.3163-18C>G (n.3163-18C>G) c.4009-18C>G (n.4009-18C>G) c.3529-18C>G (n.3529-18C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974349G= | CA2034472388 | COL2A1 | c.3868-18C= (n.3868-18C=) c.4075-18C= (n.4075-18C=) n.3161-18C= c.4219-18C= (n.4219-18C=) c.4216-18C= (n.4216-18C=) c.3163-18C= (n.3163-18C=) c.4009-18C= (n.4009-18C=) c.3529-18C= (n.3529-18C=) | |
| 12 | g.47974350G>A | CA2618504508 | COL2A1 | c.3868-19C>T (n.3868-19C>T) c.4075-19C>T (n.4075-19C>T) n.3161-19C>T c.4219-19C>T (n.4219-19C>T) c.4216-19C>T (n.4216-19C>T) c.3163-19C>T (n.3163-19C>T) c.4009-19C>T (n.4009-19C>T) c.3529-19C>T (n.3529-19C>T) | gnomAD v4 |
| 12 | g.47974350G= | CA2034472389 | COL2A1 | c.3868-19C= (n.3868-19C=) c.4075-19C= (n.4075-19C=) n.3161-19C= c.4219-19C= (n.4219-19C=) c.4216-19C= (n.4216-19C=) c.3163-19C= (n.3163-19C=) c.4009-19C= (n.4009-19C=) c.3529-19C= (n.3529-19C=) | |
| 12 | g.47974350G>T | CA689462520 | COL2A1 | c.3868-19C>A (n.3868-19C>A) c.4075-19C>A (n.4075-19C>A) n.3161-19C>A c.4219-19C>A (n.4219-19C>A) c.4216-19C>A (n.4216-19C>A) c.3163-19C>A (n.3163-19C>A) c.4009-19C>A (n.4009-19C>A) c.3529-19C>A (n.3529-19C>A) | dbSNP |
| 12 | g.47974351C= | CA2034472392 | COL2A1 | c.3868-20G= (n.3868-20G=) c.4075-20G= (n.4075-20G=) n.3161-20G= c.4219-20G= (n.4219-20G=) c.4216-20G= (n.4216-20G=) c.3163-20G= (n.3163-20G=) c.4009-20G= (n.4009-20G=) c.3529-20G= (n.3529-20G=) | |
| 12 | g.47974351C>T | CA6534555 | COL2A1 | c.3868-20G>A (n.3868-20G>A) c.4075-20G>A (n.4075-20G>A) n.3161-20G>A c.4219-20G>A (n.4219-20G>A) c.4216-20G>A (n.4216-20G>A) c.3163-20G>A (n.3163-20G>A) c.4009-20G>A (n.4009-20G>A) c.3529-20G>A (n.3529-20G>A) | dbSNP ExAC gnomAD v2 |
| 12 | g.47974353G>C | CA2575137427 | COL2A1 | c.3868-22C>G (n.3868-22C>G) c.4075-22C>G (n.4075-22C>G) n.3161-22C>G c.4219-22C>G (n.4219-22C>G) c.4216-22C>G (n.4216-22C>G) c.3163-22C>G (n.3163-22C>G) c.4009-22C>G (n.4009-22C>G) c.3529-22C>G (n.3529-22C>G) | gnomAD v4 |
| 12 | g.47974355G>C | CA2795861713 | COL2A1 | c.3868-24C>G (n.3868-24C>G) c.4075-24C>G (n.4075-24C>G) n.3161-24C>G c.4219-24C>G (n.4219-24C>G) c.4216-24C>G (n.4216-24C>G) c.3163-24C>G (n.3163-24C>G) c.4009-24C>G (n.4009-24C>G) c.3529-24C>G (n.3529-24C>G) | |
| 12 | g.47974357del | CA2795861718 | COL2A1 | c.3868-26del (n.3868-26del) c.4075-26del (n.4075-26del) n.3161-26del c.4219-26del (n.4219-26del) c.4216-26del (n.4216-26del) c.3163-26del (n.3163-26del) c.4009-26del (n.4009-26del) c.3529-26del (n.3529-26del) | |
| 12 | g.47974357G>A | CA236516150 | COL2A1 | c.3868-26C>T (n.3868-26C>T) c.4075-26C>T (n.4075-26C>T) n.3161-26C>T c.4219-26C>T (n.4219-26C>T) c.4216-26C>T (n.4216-26C>T) c.3163-26C>T (n.3163-26C>T) c.4009-26C>T (n.4009-26C>T) c.3529-26C>T (n.3529-26C>T) | dbSNP gnomAD v4 |
| 12 | g.47974357G= | CA2034472394 | COL2A1 | c.3868-26C= (n.3868-26C=) c.4075-26C= (n.4075-26C=) n.3161-26C= c.4219-26C= (n.4219-26C=) c.4216-26C= (n.4216-26C=) c.3163-26C= (n.3163-26C=) c.4009-26C= (n.4009-26C=) c.3529-26C= (n.3529-26C=) | |
| 12 | g.47974358A>G | CA2618504512 | COL2A1 | c.3868-27T>C (n.3868-27T>C) c.4075-27T>C (n.4075-27T>C) n.3161-27T>C c.4219-27T>C (n.4219-27T>C) c.4216-27T>C (n.4216-27T>C) c.3163-27T>C (n.3163-27T>C) c.4009-27T>C (n.4009-27T>C) c.3529-27T>C (n.3529-27T>C) | gnomAD v4 |
| 12 | g.47974359G>A | CA6534556 | COL2A1 | c.3868-28C>T (n.3868-28C>T) c.4075-28C>T (n.4075-28C>T) n.3161-28C>T c.4219-28C>T (n.4219-28C>T) c.4216-28C>T (n.4216-28C>T) c.3163-28C>T (n.3163-28C>T) c.4009-28C>T (n.4009-28C>T) c.3529-28C>T (n.3529-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974359G= | CA2034472396 | COL2A1 | c.3868-28C= (n.3868-28C=) c.4075-28C= (n.4075-28C=) n.3161-28C= c.4219-28C= (n.4219-28C=) c.4216-28C= (n.4216-28C=) c.3163-28C= (n.3163-28C=) c.4009-28C= (n.4009-28C=) c.3529-28C= (n.3529-28C=) | |
| 12 | g.47974359G>T | CA2618504513 | COL2A1 | c.3868-28C>A (n.3868-28C>A) c.4075-28C>A (n.4075-28C>A) n.3161-28C>A c.4219-28C>A (n.4219-28C>A) c.4216-28C>A (n.4216-28C>A) c.3163-28C>A (n.3163-28C>A) c.4009-28C>A (n.4009-28C>A) c.3529-28C>A (n.3529-28C>A) | gnomAD v4 |
| 12 | g.47974360G>T | CA2618504514 | COL2A1 | c.3868-29C>A (n.3868-29C>A) c.4075-29C>A (n.4075-29C>A) n.3161-29C>A c.4219-29C>A (n.4219-29C>A) c.4216-29C>A (n.4216-29C>A) c.3163-29C>A (n.3163-29C>A) c.4009-29C>A (n.4009-29C>A) c.3529-29C>A (n.3529-29C>A) | gnomAD v4 |
| 12 | g.47974361C>T | CA2618504515 | COL2A1 | c.3868-30G>A (n.3868-30G>A) c.4075-30G>A (n.4075-30G>A) n.3161-30G>A c.4219-30G>A (n.4219-30G>A) c.4216-30G>A (n.4216-30G>A) c.3163-30G>A (n.3163-30G>A) c.4009-30G>A (n.4009-30G>A) c.3529-30G>A (n.3529-30G>A) | gnomAD v4 |
| 12 | g.47974362C>A | CA2575137428 | COL2A1 | c.3868-31G>T (n.3868-31G>T) c.4075-31G>T (n.4075-31G>T) n.3161-31G>T c.4219-31G>T (n.4219-31G>T) c.4216-31G>T (n.4216-31G>T) c.3163-31G>T (n.3163-31G>T) c.4009-31G>T (n.4009-31G>T) c.3529-31G>T (n.3529-31G>T) | |
| 12 | g.47974362C>T | CA2618504516 | COL2A1 | c.3868-31G>A (n.3868-31G>A) c.4075-31G>A (n.4075-31G>A) n.3161-31G>A c.4219-31G>A (n.4219-31G>A) c.4216-31G>A (n.4216-31G>A) c.3163-31G>A (n.3163-31G>A) c.4009-31G>A (n.4009-31G>A) c.3529-31G>A (n.3529-31G>A) | gnomAD v4 |