WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974258G>A | CA128528 | COL2A1 | c.3941C>T (p.Thr1314Met) c.4148C>T (p.Thr1383Met) n.3234C>T c.4292C>T (p.Thr1431Met) c.4289C>T (p.Thr1430Met) c.3236C>T (p.Thr1079Met) c.4082C>T (p.Thr1361Met) c.3602C>T (p.Thr1201Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974258G>C | CA384533763 | COL2A1 | c.3941C>G (p.Thr1314Arg) c.4148C>G (p.Thr1383Arg) n.3234C>G c.4292C>G (p.Thr1431Arg) c.4289C>G (p.Thr1430Arg) c.3236C>G (p.Thr1079Arg) c.4082C>G (p.Thr1361Arg) c.3602C>G (p.Thr1201Arg) | |
| 12 | g.47974258G= | CA2034471841 | COL2A1 | c.3941C= (p.Thr1314=) c.4148C= (p.Thr1383=) n.3234C= c.4292C= (p.Thr1431=) c.4289C= (p.Thr1430=) c.3236C= (p.Thr1079=) c.4082C= (p.Thr1361=) c.3602C= (p.Thr1201=) | |
| 12 | g.47974258G>T | CA384533762 | COL2A1 | c.3941C>A (p.Thr1314Lys) c.4148C>A (p.Thr1383Lys) n.3234C>A c.4292C>A (p.Thr1431Lys) c.4289C>A (p.Thr1430Lys) c.3236C>A (p.Thr1079Lys) c.4082C>A (p.Thr1361Lys) c.3602C>A (p.Thr1201Lys) | |
| 12 | g.47974259T>A | CA384533764 | COL2A1 | c.3940A>T (p.Thr1314Ser) c.4147A>T (p.Thr1383Ser) n.3233A>T c.4291A>T (p.Thr1431Ser) c.4288A>T (p.Thr1430Ser) c.3235A>T (p.Thr1079Ser) c.4081A>T (p.Thr1361Ser) c.3601A>T (p.Thr1201Ser) | |
| 12 | g.47974259T>C | CA384533765 | COL2A1 | c.3940A>G (p.Thr1314Ala) c.4147A>G (p.Thr1383Ala) n.3233A>G c.4291A>G (p.Thr1431Ala) c.4288A>G (p.Thr1430Ala) c.3235A>G (p.Thr1079Ala) c.4081A>G (p.Thr1361Ala) c.3601A>G (p.Thr1201Ala) | |
| 12 | g.47974259T>G | CA384533766 | COL2A1 | c.3940A>C (p.Thr1314Pro) c.4147A>C (p.Thr1383Pro) n.3233A>C c.4291A>C (p.Thr1431Pro) c.4288A>C (p.Thr1430Pro) c.3235A>C (p.Thr1079Pro) c.4081A>C (p.Thr1361Pro) c.3601A>C (p.Thr1201Pro) | |
| 12 | g.47974260G>A | CA479450224 | COL2A1 | c.3939C>T (p.Ser1313=) c.4146C>T (p.Ser1382=) n.3232C>T c.4290C>T (p.Ser1430=) c.4287C>T (p.Ser1429=) c.3234C>T (p.Ser1078=) c.4080C>T (p.Ser1360=) c.3600C>T (p.Ser1200=) | ClinVar |
| 12 | g.47974260G>C | CA6534525 | COL2A1 | c.3939C>G (p.Ser1313=) c.4146C>G (p.Ser1382=) n.3232C>G c.4290C>G (p.Ser1430=) c.4287C>G (p.Ser1429=) c.3234C>G (p.Ser1078=) c.4080C>G (p.Ser1360=) c.3600C>G (p.Ser1200=) | dbSNP ExAC gnomAD v4 |
| 12 | g.47974260G= | CA2034471847 | COL2A1 | c.3939C= (p.Ser1313=) c.4146C= (p.Ser1382=) n.3232C= c.4290C= (p.Ser1430=) c.4287C= (p.Ser1429=) c.3234C= (p.Ser1078=) c.4080C= (p.Ser1360=) c.3600C= (p.Ser1200=) | |
| 12 | g.47974260G>T | CA479450223 | COL2A1 | c.3939C>A (p.Ser1313=) c.4146C>A (p.Ser1382=) n.3232C>A c.4290C>A (p.Ser1430=) c.4287C>A (p.Ser1429=) c.3234C>A (p.Ser1078=) c.4080C>A (p.Ser1360=) c.3600C>A (p.Ser1200=) | |
| 12 | g.47974261G>A | CA384533767 | COL2A1 | c.3938C>T (p.Ser1313Phe) c.4145C>T (p.Ser1382Phe) n.3231C>T c.4289C>T (p.Ser1430Phe) c.4286C>T (p.Ser1429Phe) c.3233C>T (p.Ser1078Phe) c.4079C>T (p.Ser1360Phe) c.3599C>T (p.Ser1200Phe) | |
| 12 | g.47974261G>C | CA384533768 | COL2A1 | c.3938C>G (p.Ser1313Cys) c.4145C>G (p.Ser1382Cys) n.3231C>G c.4289C>G (p.Ser1430Cys) c.4286C>G (p.Ser1429Cys) c.3233C>G (p.Ser1078Cys) c.4079C>G (p.Ser1360Cys) c.3599C>G (p.Ser1200Cys) | |
| 12 | g.47974261G>T | CA384533769 | COL2A1 | c.3938C>A (p.Ser1313Tyr) c.4145C>A (p.Ser1382Tyr) n.3231C>A c.4289C>A (p.Ser1430Tyr) c.4286C>A (p.Ser1429Tyr) c.3233C>A (p.Ser1078Tyr) c.4079C>A (p.Ser1360Tyr) c.3599C>A (p.Ser1200Tyr) | |
| 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=) |