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.47974193C>A | CA384533614 | COL2A1 | c.4006G>T (p.Gly1336Cys) c.4213G>T (p.Gly1405Cys) n.3299G>T c.4357G>T (p.Gly1453Cys) c.4354G>T (p.Gly1452Cys) c.3301G>T (p.Gly1101Cys) c.4147G>T (p.Gly1383Cys) c.3667G>T (p.Gly1223Cys) | |
| 12 | g.47974193C= | CA2034471698 | COL2A1 | c.4006G= (p.Gly1336=) c.4213G= (p.Gly1405=) n.3299G= c.4357G= (p.Gly1453=) c.4354G= (p.Gly1452=) c.3301G= (p.Gly1101=) c.4147G= (p.Gly1383=) c.3667G= (p.Gly1223=) | |
| 12 | g.47974193C>G | CA384533615 | COL2A1 | c.4006G>C (p.Gly1336Arg) c.4213G>C (p.Gly1405Arg) n.3299G>C c.4357G>C (p.Gly1453Arg) c.4354G>C (p.Gly1452Arg) c.3301G>C (p.Gly1101Arg) c.4147G>C (p.Gly1383Arg) c.3667G>C (p.Gly1223Arg) | |
| 12 | g.47974193C>T | CA6534518 | COL2A1 | c.4006G>A (p.Gly1336Ser) c.4213G>A (p.Gly1405Ser) n.3299G>A c.4357G>A (p.Gly1453Ser) c.4354G>A (p.Gly1452Ser) c.3301G>A (p.Gly1101Ser) c.4147G>A (p.Gly1383Ser) c.3667G>A (p.Gly1223Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974194A>C | CA479450187 | COL2A1 | c.4005T>G (p.Ala1335=) c.4212T>G (p.Ala1404=) n.3298T>G c.4356T>G (p.Ala1452=) c.4353T>G (p.Ala1451=) c.3300T>G (p.Ala1100=) c.4146T>G (p.Ala1382=) c.3666T>G (p.Ala1222=) | |
| 12 | g.47974194A>G | CA479450188 | COL2A1 | c.4005T>C (p.Ala1335=) c.4212T>C (p.Ala1404=) n.3298T>C c.4356T>C (p.Ala1452=) c.4353T>C (p.Ala1451=) c.3300T>C (p.Ala1100=) c.4146T>C (p.Ala1382=) c.3666T>C (p.Ala1222=) | |
| 12 | g.47974194A>T | CA479450189 | COL2A1 | c.4005T>A (p.Ala1335=) c.4212T>A (p.Ala1404=) n.3298T>A c.4356T>A (p.Ala1452=) c.4353T>A (p.Ala1451=) c.3300T>A (p.Ala1100=) c.4146T>A (p.Ala1382=) c.3666T>A (p.Ala1222=) | |
| 12 | g.47974195G>A | CA384533616 | COL2A1 | c.4004C>T (p.Ala1335Val) c.4211C>T (p.Ala1404Val) n.3297C>T c.4355C>T (p.Ala1452Val) c.4352C>T (p.Ala1451Val) c.3299C>T (p.Ala1100Val) c.4145C>T (p.Ala1382Val) c.3665C>T (p.Ala1222Val) | |
| 12 | g.47974195G>C | CA384533617 | COL2A1 | c.4004C>G (p.Ala1335Gly) c.4211C>G (p.Ala1404Gly) n.3297C>G c.4355C>G (p.Ala1452Gly) c.4352C>G (p.Ala1451Gly) c.3299C>G (p.Ala1100Gly) c.4145C>G (p.Ala1382Gly) c.3665C>G (p.Ala1222Gly) | |
| 12 | g.47974195G>T | CA384533618 | COL2A1 | c.4004C>A (p.Ala1335Asp) c.4211C>A (p.Ala1404Asp) n.3297C>A c.4355C>A (p.Ala1452Asp) c.4352C>A (p.Ala1451Asp) c.3299C>A (p.Ala1100Asp) c.4145C>A (p.Ala1382Asp) c.3665C>A (p.Ala1222Asp) | |
| 12 | g.47974196C>A | CA384533619 | COL2A1 | c.4003G>T (p.Ala1335Ser) c.4210G>T (p.Ala1404Ser) n.3296G>T c.4354G>T (p.Ala1452Ser) c.4351G>T (p.Ala1451Ser) c.3298G>T (p.Ala1100Ser) c.4144G>T (p.Ala1382Ser) c.3664G>T (p.Ala1222Ser) | ClinVar dbSNP |
| 12 | g.47974196C>G | CA384533620 | COL2A1 | c.4003G>C (p.Ala1335Pro) c.4210G>C (p.Ala1404Pro) n.3296G>C c.4354G>C (p.Ala1452Pro) c.4351G>C (p.Ala1451Pro) c.3298G>C (p.Ala1100Pro) c.4144G>C (p.Ala1382Pro) c.3664G>C (p.Ala1222Pro) | |
| 12 | g.47974196C>T | CA384533621 | COL2A1 | c.4003G>A (p.Ala1335Thr) c.4210G>A (p.Ala1404Thr) n.3296G>A c.4354G>A (p.Ala1452Thr) c.4351G>A (p.Ala1451Thr) c.3298G>A (p.Ala1100Thr) c.4144G>A (p.Ala1382Thr) c.3664G>A (p.Ala1222Thr) | |
| 12 | g.47974197T>A | CA479450190 | COL2A1 | c.4002A>T (p.Ala1334=) c.4209A>T (p.Ala1403=) n.3295A>T c.4353A>T (p.Ala1451=) c.4350A>T (p.Ala1450=) c.3297A>T (p.Ala1099=) c.4143A>T (p.Ala1381=) c.3663A>T (p.Ala1221=) | |
| 12 | g.47974197T>C | CA479450191 | COL2A1 | c.4002A>G (p.Ala1334=) c.4209A>G (p.Ala1403=) n.3295A>G c.4353A>G (p.Ala1451=) c.4350A>G (p.Ala1450=) c.3297A>G (p.Ala1099=) c.4143A>G (p.Ala1381=) c.3663A>G (p.Ala1221=) | |
| 12 | g.47974197T>G | CA479450192 | COL2A1 | c.4002A>C (p.Ala1334=) c.4209A>C (p.Ala1403=) n.3295A>C c.4353A>C (p.Ala1451=) c.4350A>C (p.Ala1450=) c.3297A>C (p.Ala1099=) c.4143A>C (p.Ala1381=) c.3663A>C (p.Ala1221=) | |
| 12 | g.47974198G>A | CA384533622 | COL2A1 | c.4001C>T (p.Ala1334Val) c.4208C>T (p.Ala1403Val) n.3294C>T c.4352C>T (p.Ala1451Val) c.4349C>T (p.Ala1450Val) c.3296C>T (p.Ala1099Val) c.4142C>T (p.Ala1381Val) c.3662C>T (p.Ala1221Val) | dbSNP |
| 12 | g.47974198G>C | CA384533623 | COL2A1 | c.4001C>G (p.Ala1334Gly) c.4208C>G (p.Ala1403Gly) n.3294C>G c.4352C>G (p.Ala1451Gly) c.4349C>G (p.Ala1450Gly) c.3296C>G (p.Ala1099Gly) c.4142C>G (p.Ala1381Gly) c.3662C>G (p.Ala1221Gly) | |
| 12 | g.47974198G>T | CA384533624 | COL2A1 | c.4001C>A (p.Ala1334Glu) c.4208C>A (p.Ala1403Glu) n.3294C>A c.4352C>A (p.Ala1451Glu) c.4349C>A (p.Ala1450Glu) c.3296C>A (p.Ala1099Glu) c.4142C>A (p.Ala1381Glu) c.3662C>A (p.Ala1221Glu) | |
| 12 | g.47974199C>A | CA384533625 | COL2A1 | c.4000G>T (p.Ala1334Ser) c.4207G>T (p.Ala1403Ser) n.3293G>T c.4351G>T (p.Ala1451Ser) c.4348G>T (p.Ala1450Ser) c.3295G>T (p.Ala1099Ser) c.4141G>T (p.Ala1381Ser) c.3661G>T (p.Ala1221Ser) | |
| 12 | g.47974199C>G | CA384533626 | COL2A1 | c.4000G>C (p.Ala1334Pro) c.4207G>C (p.Ala1403Pro) n.3293G>C c.4351G>C (p.Ala1451Pro) c.4348G>C (p.Ala1450Pro) c.3295G>C (p.Ala1099Pro) c.4141G>C (p.Ala1381Pro) c.3661G>C (p.Ala1221Pro) | |
| 12 | g.47974199C>T | CA384533627 | COL2A1 | c.4000G>A (p.Ala1334Thr) c.4207G>A (p.Ala1403Thr) n.3293G>A c.4351G>A (p.Ala1451Thr) c.4348G>A (p.Ala1450Thr) c.3295G>A (p.Ala1099Thr) c.4141G>A (p.Ala1381Thr) c.3661G>A (p.Ala1221Thr) | |
| 12 | g.47974200T>A | CA384533629 | COL2A1 | c.3999A>T (p.Glu1333Asp) c.4206A>T (p.Glu1402Asp) n.3292A>T c.4350A>T (p.Glu1450Asp) c.4347A>T (p.Glu1449Asp) c.3294A>T (p.Glu1098Asp) c.4140A>T (p.Glu1380Asp) c.3660A>T (p.Glu1220Asp) | |
| 12 | g.47974200T>C | CA479450193 | COL2A1 | c.3999A>G (p.Glu1333=) c.4206A>G (p.Glu1402=) n.3292A>G c.4350A>G (p.Glu1450=) c.4347A>G (p.Glu1449=) c.3294A>G (p.Glu1098=) c.4140A>G (p.Glu1380=) c.3660A>G (p.Glu1220=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974200T>G | CA384533628 | COL2A1 | c.3999A>C (p.Glu1333Asp) c.4206A>C (p.Glu1402Asp) n.3292A>C c.4350A>C (p.Glu1450Asp) c.4347A>C (p.Glu1449Asp) c.3294A>C (p.Glu1098Asp) c.4140A>C (p.Glu1380Asp) c.3660A>C (p.Glu1220Asp) | |
| 12 | g.47974200_47974211delinsTTCGTCCAGATA | CA2034471707 | COL2A1 | c.3988_3999delinsTATCTGGACGAA (p.Tyr1330=) c.4195_4206delinsTATCTGGACGAA (p.Tyr1399=) n.3281_3292delinsTATCTGGACGAA c.4339_4350delinsTATCTGGACGAA (p.Tyr1447=) c.4336_4347delinsTATCTGGACGAA (p.Tyr1446=) c.3283_3294delinsTATCTGGACGAA (p.Tyr1095=) c.4129_4140delinsTATCTGGACGAA (p.Tyr1377=) c.3649_3660delinsTATCTGGACGAA (p.Tyr1217=) | |
| 12 | g.47974201T>A | CA384533630 | COL2A1 | c.3998A>T (p.Glu1333Val) c.4205A>T (p.Glu1402Val) n.3291A>T c.4349A>T (p.Glu1450Val) c.4346A>T (p.Glu1449Val) c.3293A>T (p.Glu1098Val) c.4139A>T (p.Glu1380Val) c.3659A>T (p.Glu1220Val) | ClinVar dbSNP |
| 12 | g.47974201T>C | CA384533631 | COL2A1 | c.3998A>G (p.Glu1333Gly) c.4205A>G (p.Glu1402Gly) n.3291A>G c.4349A>G (p.Glu1450Gly) c.4346A>G (p.Glu1449Gly) c.3293A>G (p.Glu1098Gly) c.4139A>G (p.Glu1380Gly) c.3659A>G (p.Glu1220Gly) | |
| 12 | g.47974201T>G | CA384533632 | COL2A1 | c.3998A>C (p.Glu1333Ala) c.4205A>C (p.Glu1402Ala) n.3291A>C c.4349A>C (p.Glu1450Ala) c.4346A>C (p.Glu1449Ala) c.3293A>C (p.Glu1098Ala) c.4139A>C (p.Glu1380Ala) c.3659A>C (p.Glu1220Ala) | |
| 12 | g.47974201T= | CA2034471715 | COL2A1 | c.3998A= (p.Glu1333=) c.4205A= (p.Glu1402=) n.3291A= c.4349A= (p.Glu1450=) c.4346A= (p.Glu1449=) c.3293A= (p.Glu1098=) c.4139A= (p.Glu1380=) c.3659A= (p.Glu1220=) | |
| 12 | g.47974201_47974211delinsGGCAATGCT | CA658797880 | COL2A1 | c.3988_3998delinsAGCATTGCC (p.Tyr1330SerfsTer19) c.4195_4205delinsAGCATTGCC (p.Tyr1399SerfsTer19) n.3281_3291delinsAGCATTGCC c.4339_4349delinsAGCATTGCC (p.Tyr1447SerfsTer19) c.4336_4346delinsAGCATTGCC (p.Tyr1446SerfsTer19) c.3283_3293delinsAGCATTGCC (p.Tyr1095SerfsTer19) c.4129_4139delinsAGCATTGCC (p.Tyr1377SerfsTer19) c.3649_3659delinsAGCATTGCC (p.Tyr1217SerfsTer19) | ClinVar dbSNP |
| 12 | g.47974202C>A | CA384533633 | COL2A1 | c.3997G>T (p.Glu1333Ter) c.4204G>T (p.Glu1402Ter) n.3290G>T c.4348G>T (p.Glu1450Ter) c.4345G>T (p.Glu1449Ter) c.3292G>T (p.Glu1098Ter) c.4138G>T (p.Glu1380Ter) c.3658G>T (p.Glu1220Ter) | |
| 12 | g.47974202C= | CA2034471722 | COL2A1 | c.3997G= (p.Glu1333=) c.4204G= (p.Glu1402=) n.3290G= c.4348G= (p.Glu1450=) c.4345G= (p.Glu1449=) c.3292G= (p.Glu1098=) c.4138G= (p.Glu1380=) c.3658G= (p.Glu1220=) | |
| 12 | g.47974202C>G | CA384533634 | COL2A1 | c.3997G>C (p.Glu1333Gln) c.4204G>C (p.Glu1402Gln) n.3290G>C c.4348G>C (p.Glu1450Gln) c.4345G>C (p.Glu1449Gln) c.3292G>C (p.Glu1098Gln) c.4138G>C (p.Glu1380Gln) c.3658G>C (p.Glu1220Gln) | |
| 12 | g.47974202C>T | CA6534519 | COL2A1 | c.3997G>A (p.Glu1333Lys) c.4204G>A (p.Glu1402Lys) n.3290G>A c.4348G>A (p.Glu1450Lys) c.4345G>A (p.Glu1449Lys) c.3292G>A (p.Glu1098Lys) c.4138G>A (p.Glu1380Lys) c.3658G>A (p.Glu1220Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974203G>A | CA6534520 | COL2A1 | c.3996C>T (p.Asp1332=) c.4203C>T (p.Asp1401=) n.3289C>T c.4347C>T (p.Asp1449=) c.4344C>T (p.Asp1448=) c.3291C>T (p.Asp1097=) c.4137C>T (p.Asp1379=) c.3657C>T (p.Asp1219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974203G>C | CA384533635 | COL2A1 | c.3996C>G (p.Asp1332Glu) c.4203C>G (p.Asp1401Glu) n.3289C>G c.4347C>G (p.Asp1449Glu) c.4344C>G (p.Asp1448Glu) c.3291C>G (p.Asp1097Glu) c.4137C>G (p.Asp1379Glu) c.3657C>G (p.Asp1219Glu) | gnomAD v4 |
| 12 | g.47974203G= | CA2034471728 | COL2A1 | c.3996C= (p.Asp1332=) c.4203C= (p.Asp1401=) n.3289C= c.4347C= (p.Asp1449=) c.4344C= (p.Asp1448=) c.3291C= (p.Asp1097=) c.4137C= (p.Asp1379=) c.3657C= (p.Asp1219=) | |
| 12 | g.47974203G>T | CA384533636 | COL2A1 | c.3996C>A (p.Asp1332Glu) c.4203C>A (p.Asp1401Glu) n.3289C>A c.4347C>A (p.Asp1449Glu) c.4344C>A (p.Asp1448Glu) c.3291C>A (p.Asp1097Glu) c.4137C>A (p.Asp1379Glu) c.3657C>A (p.Asp1219Glu) | |
| 12 | g.47974204T>A | CA384533637 | COL2A1 | c.3995A>T (p.Asp1332Val) c.4202A>T (p.Asp1401Val) n.3288A>T c.4346A>T (p.Asp1449Val) c.4343A>T (p.Asp1448Val) c.3290A>T (p.Asp1097Val) c.4136A>T (p.Asp1379Val) c.3656A>T (p.Asp1219Val) | |
| 12 | g.47974204T>C | CA384533638 | COL2A1 | c.3995A>G (p.Asp1332Gly) c.4202A>G (p.Asp1401Gly) n.3288A>G c.4346A>G (p.Asp1449Gly) c.4343A>G (p.Asp1448Gly) c.3290A>G (p.Asp1097Gly) c.4136A>G (p.Asp1379Gly) c.3656A>G (p.Asp1219Gly) | |
| 12 | g.47974204T>G | CA384533639 | COL2A1 | c.3995A>C (p.Asp1332Ala) c.4202A>C (p.Asp1401Ala) n.3288A>C c.4346A>C (p.Asp1449Ala) c.4343A>C (p.Asp1448Ala) c.3290A>C (p.Asp1097Ala) c.4136A>C (p.Asp1379Ala) c.3656A>C (p.Asp1219Ala) | |
| 12 | g.47974205C>A | CA384533642 | COL2A1 | c.3994G>T (p.Asp1332Tyr) c.4201G>T (p.Asp1401Tyr) n.3287G>T c.4345G>T (p.Asp1449Tyr) c.4342G>T (p.Asp1448Tyr) c.3289G>T (p.Asp1097Tyr) c.4135G>T (p.Asp1379Tyr) c.3655G>T (p.Asp1219Tyr) | |
| 12 | g.47974205C>G | CA384533641 | COL2A1 | c.3994G>C (p.Asp1332His) c.4201G>C (p.Asp1401His) n.3287G>C c.4345G>C (p.Asp1449His) c.4342G>C (p.Asp1448His) c.3289G>C (p.Asp1097His) c.4135G>C (p.Asp1379His) c.3655G>C (p.Asp1219His) | |
| 12 | g.47974205C>T | CA384533640 | COL2A1 | c.3994G>A (p.Asp1332Asn) c.4201G>A (p.Asp1401Asn) n.3287G>A c.4345G>A (p.Asp1449Asn) c.4342G>A (p.Asp1448Asn) c.3289G>A (p.Asp1097Asn) c.4135G>A (p.Asp1379Asn) c.3655G>A (p.Asp1219Asn) | |
| 12 | g.47974206C>A | CA479450194 | COL2A1 | c.3993G>T (p.Leu1331=) c.4200G>T (p.Leu1400=) n.3286G>T c.4344G>T (p.Leu1448=) c.4341G>T (p.Leu1447=) c.3288G>T (p.Leu1096=) c.4134G>T (p.Leu1378=) c.3654G>T (p.Leu1218=) | |
| 12 | g.47974206C= | CA2034471734 | COL2A1 | c.3993G= (p.Leu1331=) c.4200G= (p.Leu1400=) n.3286G= c.4344G= (p.Leu1448=) c.4341G= (p.Leu1447=) c.3288G= (p.Leu1096=) c.4134G= (p.Leu1378=) c.3654G= (p.Leu1218=) | |
| 12 | g.47974206C>G | CA479450195 | COL2A1 | c.3993G>C (p.Leu1331=) c.4200G>C (p.Leu1400=) n.3286G>C c.4344G>C (p.Leu1448=) c.4341G>C (p.Leu1447=) c.3288G>C (p.Leu1096=) c.4134G>C (p.Leu1378=) c.3654G>C (p.Leu1218=) | |
| 12 | g.47974206C>T | CA479450196 | COL2A1 | c.3993G>A (p.Leu1331=) c.4200G>A (p.Leu1400=) n.3286G>A c.4344G>A (p.Leu1448=) c.4341G>A (p.Leu1447=) c.3288G>A (p.Leu1096=) c.4134G>A (p.Leu1378=) c.3654G>A (p.Leu1218=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974207A>C | CA384533643 | COL2A1 | c.3992T>G (p.Leu1331Arg) c.4199T>G (p.Leu1400Arg) n.3285T>G c.4343T>G (p.Leu1448Arg) c.4340T>G (p.Leu1447Arg) c.3287T>G (p.Leu1096Arg) c.4133T>G (p.Leu1378Arg) c.3653T>G (p.Leu1218Arg) |