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.47974134C>A | CA384533488 | COL2A1 | c.4065G>T (p.Glu1355Asp) c.4272G>T (p.Glu1424Asp) n.3358G>T c.4416G>T (p.Glu1472Asp) c.4413G>T (p.Glu1471Asp) c.3360G>T (p.Glu1120Asp) c.4206G>T (p.Glu1402Asp) c.3726G>T (p.Glu1242Asp) | |
| 12 | g.47974134C= | CA2034471572 | COL2A1 | c.4065G= (p.Glu1355=) c.4272G= (p.Glu1424=) n.3358G= c.4416G= (p.Glu1472=) c.4413G= (p.Glu1471=) c.3360G= (p.Glu1120=) c.4206G= (p.Glu1402=) c.3726G= (p.Glu1242=) | |
| 12 | g.47974134C>G | CA384533489 | COL2A1 | c.4065G>C (p.Glu1355Asp) c.4272G>C (p.Glu1424Asp) n.3358G>C c.4416G>C (p.Glu1472Asp) c.4413G>C (p.Glu1471Asp) c.3360G>C (p.Glu1120Asp) c.4206G>C (p.Glu1402Asp) c.3726G>C (p.Glu1242Asp) | |
| 12 | g.47974134C>T | CA479450145 | COL2A1 | c.4065G>A (p.Glu1355=) c.4272G>A (p.Glu1424=) n.3358G>A c.4416G>A (p.Glu1472=) c.4413G>A (p.Glu1471=) c.3360G>A (p.Glu1120=) c.4206G>A (p.Glu1402=) c.3726G>A (p.Glu1242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974135T>A | CA384533490 | COL2A1 | c.4064A>T (p.Glu1355Val) c.4271A>T (p.Glu1424Val) n.3357A>T c.4415A>T (p.Glu1472Val) c.4412A>T (p.Glu1471Val) c.3359A>T (p.Glu1120Val) c.4205A>T (p.Glu1402Val) c.3725A>T (p.Glu1242Val) | |
| 12 | g.47974135T>C | CA384533491 | COL2A1 | c.4064A>G (p.Glu1355Gly) c.4271A>G (p.Glu1424Gly) n.3357A>G c.4415A>G (p.Glu1472Gly) c.4412A>G (p.Glu1471Gly) c.3359A>G (p.Glu1120Gly) c.4205A>G (p.Glu1402Gly) c.3725A>G (p.Glu1242Gly) | |
| 12 | g.47974135T>G | CA384533492 | COL2A1 | c.4064A>C (p.Glu1355Ala) c.4271A>C (p.Glu1424Ala) n.3357A>C c.4415A>C (p.Glu1472Ala) c.4412A>C (p.Glu1471Ala) c.3359A>C (p.Glu1120Ala) c.4205A>C (p.Glu1402Ala) c.3725A>C (p.Glu1242Ala) | |
| 12 | g.47974136C>A | CA384533494 | COL2A1 | c.4063G>T (p.Glu1355Ter) c.4270G>T (p.Glu1424Ter) n.3356G>T c.4414G>T (p.Glu1472Ter) c.4411G>T (p.Glu1471Ter) c.3358G>T (p.Glu1120Ter) c.4204G>T (p.Glu1402Ter) c.3724G>T (p.Glu1242Ter) | |
| 12 | g.47974136C>G | CA384533495 | COL2A1 | c.4063G>C (p.Glu1355Gln) c.4270G>C (p.Glu1424Gln) n.3356G>C c.4414G>C (p.Glu1472Gln) c.4411G>C (p.Glu1471Gln) c.3358G>C (p.Glu1120Gln) c.4204G>C (p.Glu1402Gln) c.3724G>C (p.Glu1242Gln) | |
| 12 | g.47974136C>T | CA384533493 | COL2A1 | c.4063G>A (p.Glu1355Lys) c.4270G>A (p.Glu1424Lys) n.3356G>A c.4414G>A (p.Glu1472Lys) c.4411G>A (p.Glu1471Lys) c.3358G>A (p.Glu1120Lys) c.4204G>A (p.Glu1402Lys) c.3724G>A (p.Glu1242Lys) | |
| 12 | g.47974137T>A | CA479450146 | COL2A1 | c.4062A>T (p.Ala1354=) c.4269A>T (p.Ala1423=) n.3355A>T c.4413A>T (p.Ala1471=) c.4410A>T (p.Ala1470=) c.3357A>T (p.Ala1119=) c.4203A>T (p.Ala1401=) c.3723A>T (p.Ala1241=) | |
| 12 | g.47974137T>C | CA479450147 | COL2A1 | c.4062A>G (p.Ala1354=) c.4269A>G (p.Ala1423=) n.3355A>G c.4413A>G (p.Ala1471=) c.4410A>G (p.Ala1470=) c.3357A>G (p.Ala1119=) c.4203A>G (p.Ala1401=) c.3723A>G (p.Ala1241=) | |
| 12 | g.47974137T>G | CA479450148 | COL2A1 | c.4062A>C (p.Ala1354=) c.4269A>C (p.Ala1423=) n.3355A>C c.4413A>C (p.Ala1471=) c.4410A>C (p.Ala1470=) c.3357A>C (p.Ala1119=) c.4203A>C (p.Ala1401=) c.3723A>C (p.Ala1241=) | |
| 12 | g.47974138G>A | CA384533498 | COL2A1 | c.4061C>T (p.Ala1354Val) c.4268C>T (p.Ala1423Val) n.3354C>T c.4412C>T (p.Ala1471Val) c.4409C>T (p.Ala1470Val) c.3356C>T (p.Ala1119Val) c.4202C>T (p.Ala1401Val) c.3722C>T (p.Ala1241Val) | |
| 12 | g.47974138G>C | CA384533496 | COL2A1 | c.4061C>G (p.Ala1354Gly) c.4268C>G (p.Ala1423Gly) n.3354C>G c.4412C>G (p.Ala1471Gly) c.4409C>G (p.Ala1470Gly) c.3356C>G (p.Ala1119Gly) c.4202C>G (p.Ala1401Gly) c.3722C>G (p.Ala1241Gly) | ClinVar |
| 12 | g.47974138G>T | CA384533497 | COL2A1 | c.4061C>A (p.Ala1354Glu) c.4268C>A (p.Ala1423Glu) n.3354C>A c.4412C>A (p.Ala1471Glu) c.4409C>A (p.Ala1470Glu) c.3356C>A (p.Ala1119Glu) c.4202C>A (p.Ala1401Glu) c.3722C>A (p.Ala1241Glu) | |
| 12 | g.47974139C>A | CA384533499 | COL2A1 | c.4060G>T (p.Ala1354Ser) c.4267G>T (p.Ala1423Ser) n.3353G>T c.4411G>T (p.Ala1471Ser) c.4408G>T (p.Ala1470Ser) c.3355G>T (p.Ala1119Ser) c.4201G>T (p.Ala1401Ser) c.3721G>T (p.Ala1241Ser) | |
| 12 | g.47974139C= | CA2034471575 | COL2A1 | c.4060G= (p.Ala1354=) c.4267G= (p.Ala1423=) n.3353G= c.4411G= (p.Ala1471=) c.4408G= (p.Ala1470=) c.3355G= (p.Ala1119=) c.4201G= (p.Ala1401=) c.3721G= (p.Ala1241=) | |
| 12 | g.47974139C>G | CA384533500 | COL2A1 | c.4060G>C (p.Ala1354Pro) c.4267G>C (p.Ala1423Pro) n.3353G>C c.4411G>C (p.Ala1471Pro) c.4408G>C (p.Ala1470Pro) c.3355G>C (p.Ala1119Pro) c.4201G>C (p.Ala1401Pro) c.3721G>C (p.Ala1241Pro) | |
| 12 | g.47974139C>T | CA384533501 | COL2A1 | c.4060G>A (p.Ala1354Thr) c.4267G>A (p.Ala1423Thr) n.3353G>A c.4411G>A (p.Ala1471Thr) c.4408G>A (p.Ala1470Thr) c.3355G>A (p.Ala1119Thr) c.4201G>A (p.Ala1401Thr) c.3721G>A (p.Ala1241Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974140C>A | CA479450149 | COL2A1 | c.4059G>T (p.Arg1353=) c.4266G>T (p.Arg1422=) n.3352G>T c.4410G>T (p.Arg1470=) c.4407G>T (p.Arg1469=) c.3354G>T (p.Arg1118=) c.4200G>T (p.Arg1400=) c.3720G>T (p.Arg1240=) | |
| 12 | g.47974140C= | CA2034471580 | COL2A1 | c.4059G= (p.Arg1353=) c.4266G= (p.Arg1422=) n.3352G= c.4410G= (p.Arg1470=) c.4407G= (p.Arg1469=) c.3354G= (p.Arg1118=) c.4200G= (p.Arg1400=) c.3720G= (p.Arg1240=) | |
| 12 | g.47974140C>G | CA479450151 | COL2A1 | c.4059G>C (p.Arg1353=) c.4266G>C (p.Arg1422=) n.3352G>C c.4410G>C (p.Arg1470=) c.4407G>C (p.Arg1469=) c.3354G>C (p.Arg1118=) c.4200G>C (p.Arg1400=) c.3720G>C (p.Arg1240=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974140C>T | CA479450150 | COL2A1 | c.4059G>A (p.Arg1353=) c.4266G>A (p.Arg1422=) n.3352G>A c.4410G>A (p.Arg1470=) c.4407G>A (p.Arg1469=) c.3354G>A (p.Arg1118=) c.4200G>A (p.Arg1400=) c.3720G>A (p.Arg1240=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974141C>A | CA236515977 | COL2A1 | c.4058G>T (p.Arg1353Leu) c.4265G>T (p.Arg1422Leu) n.3351G>T c.4409G>T (p.Arg1470Leu) c.4406G>T (p.Arg1469Leu) c.3353G>T (p.Arg1118Leu) c.4199G>T (p.Arg1400Leu) c.3719G>T (p.Arg1240Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974141C= | CA2034471591 | COL2A1 | c.4058G= (p.Arg1353=) c.4265G= (p.Arg1422=) n.3351G= c.4409G= (p.Arg1470=) c.4406G= (p.Arg1469=) c.3353G= (p.Arg1118=) c.4199G= (p.Arg1400=) c.3719G= (p.Arg1240=) | |
| 12 | g.47974141C>G | CA384533502 | COL2A1 | c.4058G>C (p.Arg1353Pro) c.4265G>C (p.Arg1422Pro) n.3351G>C c.4409G>C (p.Arg1470Pro) c.4406G>C (p.Arg1469Pro) c.3353G>C (p.Arg1118Pro) c.4199G>C (p.Arg1400Pro) c.3719G>C (p.Arg1240Pro) | dbSNP |
| 12 | g.47974141C>T | CA6534510 | COL2A1 | c.4058G>A (p.Arg1353Gln) c.4265G>A (p.Arg1422Gln) n.3351G>A c.4409G>A (p.Arg1470Gln) c.4406G>A (p.Arg1469Gln) c.3353G>A (p.Arg1118Gln) c.4199G>A (p.Arg1400Gln) c.3719G>A (p.Arg1240Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974142G>A | CA6534511 | COL2A1 | c.4057C>T (p.Arg1353Trp) c.4264C>T (p.Arg1422Trp) n.3350C>T c.4408C>T (p.Arg1470Trp) c.4405C>T (p.Arg1469Trp) c.3352C>T (p.Arg1118Trp) c.4198C>T (p.Arg1400Trp) c.3718C>T (p.Arg1240Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974142G>C | CA384533503 | COL2A1 | c.4057C>G (p.Arg1353Gly) c.4264C>G (p.Arg1422Gly) n.3350C>G c.4408C>G (p.Arg1470Gly) c.4405C>G (p.Arg1469Gly) c.3352C>G (p.Arg1118Gly) c.4198C>G (p.Arg1400Gly) c.3718C>G (p.Arg1240Gly) | |
| 12 | g.47974142G= | CA2034471602 | COL2A1 | c.4057C= (p.Arg1353=) c.4264C= (p.Arg1422=) n.3350C= c.4408C= (p.Arg1470=) c.4405C= (p.Arg1469=) c.3352C= (p.Arg1118=) c.4198C= (p.Arg1400=) c.3718C= (p.Arg1240=) | |
| 12 | g.47974142G>T | CA479450152 | COL2A1 | c.4057C>A (p.Arg1353=) c.4264C>A (p.Arg1422=) n.3350C>A c.4408C>A (p.Arg1470=) c.4405C>A (p.Arg1469=) c.3352C>A (p.Arg1118=) c.4198C>A (p.Arg1400=) c.3718C>A (p.Arg1240=) | |
| 12 | g.47974143G>A | CA479450153 | COL2A1 | c.4056C>T (p.Ile1352=) c.4263C>T (p.Ile1421=) n.3349C>T c.4407C>T (p.Ile1469=) c.4404C>T (p.Ile1468=) c.3351C>T (p.Ile1117=) c.4197C>T (p.Ile1399=) c.3717C>T (p.Ile1239=) | |
| 12 | g.47974143G>C | CA384533504 | COL2A1 | c.4056C>G (p.Ile1352Met) c.4263C>G (p.Ile1421Met) n.3349C>G c.4407C>G (p.Ile1469Met) c.4404C>G (p.Ile1468Met) c.3351C>G (p.Ile1117Met) c.4197C>G (p.Ile1399Met) c.3717C>G (p.Ile1239Met) | dbSNP |
| 12 | g.47974143G>T | CA479450154 | COL2A1 | c.4056C>A (p.Ile1352=) c.4263C>A (p.Ile1421=) n.3349C>A c.4407C>A (p.Ile1469=) c.4404C>A (p.Ile1468=) c.3351C>A (p.Ile1117=) c.4197C>A (p.Ile1399=) c.3717C>A (p.Ile1239=) | |
| 12 | g.47974144A>C | CA384533505 | COL2A1 | c.4055T>G (p.Ile1352Ser) c.4262T>G (p.Ile1421Ser) n.3348T>G c.4406T>G (p.Ile1469Ser) c.4403T>G (p.Ile1468Ser) c.3350T>G (p.Ile1117Ser) c.4196T>G (p.Ile1399Ser) c.3716T>G (p.Ile1239Ser) | |
| 12 | g.47974144A>G | CA384533506 | COL2A1 | c.4055T>C (p.Ile1352Thr) c.4262T>C (p.Ile1421Thr) n.3348T>C c.4406T>C (p.Ile1469Thr) c.4403T>C (p.Ile1468Thr) c.3350T>C (p.Ile1117Thr) c.4196T>C (p.Ile1399Thr) c.3716T>C (p.Ile1239Thr) | COSMIC COSMIC |
| 12 | g.47974144A>T | CA384533507 | COL2A1 | c.4055T>A (p.Ile1352Asn) c.4262T>A (p.Ile1421Asn) n.3348T>A c.4406T>A (p.Ile1469Asn) c.4403T>A (p.Ile1468Asn) c.3350T>A (p.Ile1117Asn) c.4196T>A (p.Ile1399Asn) c.3716T>A (p.Ile1239Asn) | |
| 12 | g.47974145T>A | CA384533508 | COL2A1 | c.4054A>T (p.Ile1352Phe) c.4261A>T (p.Ile1421Phe) n.3347A>T c.4405A>T (p.Ile1469Phe) c.4402A>T (p.Ile1468Phe) c.3349A>T (p.Ile1117Phe) c.4195A>T (p.Ile1399Phe) c.3715A>T (p.Ile1239Phe) | |
| 12 | g.47974145T>C | CA384533510 | COL2A1 | c.4054A>G (p.Ile1352Val) c.4261A>G (p.Ile1421Val) n.3347A>G c.4405A>G (p.Ile1469Val) c.4402A>G (p.Ile1468Val) c.3349A>G (p.Ile1117Val) c.4195A>G (p.Ile1399Val) c.3715A>G (p.Ile1239Val) | |
| 12 | g.47974145T>G | CA384533509 | COL2A1 | c.4054A>C (p.Ile1352Leu) c.4261A>C (p.Ile1421Leu) n.3347A>C c.4405A>C (p.Ile1469Leu) c.4402A>C (p.Ile1468Leu) c.3349A>C (p.Ile1117Leu) c.4195A>C (p.Ile1399Leu) c.3715A>C (p.Ile1239Leu) | |
| 12 | g.47974146C>A | CA384533511 | COL2A1 | c.4053G>T (p.Glu1351Asp) c.4260G>T (p.Glu1420Asp) n.3346G>T c.4404G>T (p.Glu1468Asp) c.4401G>T (p.Glu1467Asp) c.3348G>T (p.Glu1116Asp) c.4194G>T (p.Glu1398Asp) c.3714G>T (p.Glu1238Asp) | gnomAD v4 |
| 12 | g.47974146C= | CA2034471607 | COL2A1 | c.4053G= (p.Glu1351=) c.4260G= (p.Glu1420=) n.3346G= c.4404G= (p.Glu1468=) c.4401G= (p.Glu1467=) c.3348G= (p.Glu1116=) c.4194G= (p.Glu1398=) c.3714G= (p.Glu1238=) | |
| 12 | g.47974146C>G | CA384533512 | COL2A1 | c.4053G>C (p.Glu1351Asp) c.4260G>C (p.Glu1420Asp) n.3346G>C c.4404G>C (p.Glu1468Asp) c.4401G>C (p.Glu1467Asp) c.3348G>C (p.Glu1116Asp) c.4194G>C (p.Glu1398Asp) c.3714G>C (p.Glu1238Asp) | |
| 12 | g.47974146C>T | CA479450156 | COL2A1 | c.4053G>A (p.Glu1351=) c.4260G>A (p.Glu1420=) n.3346G>A c.4404G>A (p.Glu1468=) c.4401G>A (p.Glu1467=) c.3348G>A (p.Glu1116=) c.4194G>A (p.Glu1398=) c.3714G>A (p.Glu1238=) | dbSNP |
| 12 | g.47974147T>A | CA384533513 | COL2A1 | c.4052A>T (p.Glu1351Val) c.4259A>T (p.Glu1420Val) n.3345A>T c.4403A>T (p.Glu1468Val) c.4400A>T (p.Glu1467Val) c.3347A>T (p.Glu1116Val) c.4193A>T (p.Glu1398Val) c.3713A>T (p.Glu1238Val) | |
| 12 | g.47974147T>C | CA384533514 | COL2A1 | c.4052A>G (p.Glu1351Gly) c.4259A>G (p.Glu1420Gly) n.3345A>G c.4403A>G (p.Glu1468Gly) c.4400A>G (p.Glu1467Gly) c.3347A>G (p.Glu1116Gly) c.4193A>G (p.Glu1398Gly) c.3713A>G (p.Glu1238Gly) | |
| 12 | g.47974147T>G | CA384533515 | COL2A1 | c.4052A>C (p.Glu1351Ala) c.4259A>C (p.Glu1420Ala) n.3345A>C c.4403A>C (p.Glu1468Ala) c.4400A>C (p.Glu1467Ala) c.3347A>C (p.Glu1116Ala) c.4193A>C (p.Glu1398Ala) c.3713A>C (p.Glu1238Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974147T= | CA2034471610 | COL2A1 | c.4052A= (p.Glu1351=) c.4259A= (p.Glu1420=) n.3345A= c.4403A= (p.Glu1468=) c.4400A= (p.Glu1467=) c.3347A= (p.Glu1116=) c.4193A= (p.Glu1398=) c.3713A= (p.Glu1238=) | |
| 12 | g.47974148C>A | CA384533516 | COL2A1 | c.4051G>T (p.Glu1351Ter) c.4258G>T (p.Glu1420Ter) n.3344G>T c.4402G>T (p.Glu1468Ter) c.4399G>T (p.Glu1467Ter) c.3346G>T (p.Glu1116Ter) c.4192G>T (p.Glu1398Ter) c.3712G>T (p.Glu1238Ter) | |
| 12 | g.47974148C>G | CA384533517 | COL2A1 | c.4051G>C (p.Glu1351Gln) c.4258G>C (p.Glu1420Gln) n.3344G>C c.4402G>C (p.Glu1468Gln) c.4399G>C (p.Glu1467Gln) c.3346G>C (p.Glu1116Gln) c.4192G>C (p.Glu1398Gln) c.3712G>C (p.Glu1238Gln) | |
| 12 | g.47974148C>T | CA384533518 | COL2A1 | c.4051G>A (p.Glu1351Lys) c.4258G>A (p.Glu1420Lys) n.3344G>A c.4402G>A (p.Glu1468Lys) c.4399G>A (p.Glu1467Lys) c.3346G>A (p.Glu1116Lys) c.4192G>A (p.Glu1398Lys) c.3712G>A (p.Glu1238Lys) | gnomAD v4 |
| 12 | g.47974149C>A | CA479450159 | COL2A1 | c.4050G>T (p.Val1350=) c.4257G>T (p.Val1419=) n.3343G>T c.4401G>T (p.Val1467=) c.4398G>T (p.Val1466=) c.3345G>T (p.Val1115=) c.4191G>T (p.Val1397=) c.3711G>T (p.Val1237=) | |
| 12 | g.47974149C>G | CA479450157 | COL2A1 | c.4050G>C (p.Val1350=) c.4257G>C (p.Val1419=) n.3343G>C c.4401G>C (p.Val1467=) c.4398G>C (p.Val1466=) c.3345G>C (p.Val1115=) c.4191G>C (p.Val1397=) c.3711G>C (p.Val1237=) | |
| 12 | g.47974149C>T | CA479450158 | COL2A1 | c.4050G>A (p.Val1350=) c.4257G>A (p.Val1419=) n.3343G>A c.4401G>A (p.Val1467=) c.4398G>A (p.Val1466=) c.3345G>A (p.Val1115=) c.4191G>A (p.Val1397=) c.3711G>A (p.Val1237=) | |
| 12 | g.47974150A= | CA2034471614 | COL2A1 | c.4049T= (p.Val1350=) c.4256T= (p.Val1419=) n.3342T= c.4400T= (p.Val1467=) c.4397T= (p.Val1466=) c.3344T= (p.Val1115=) c.4190T= (p.Val1397=) c.3710T= (p.Val1237=) | |
| 12 | g.47974150A>C | CA384533519 | COL2A1 | c.4049T>G (p.Val1350Gly) c.4256T>G (p.Val1419Gly) n.3342T>G c.4400T>G (p.Val1467Gly) c.4397T>G (p.Val1466Gly) c.3344T>G (p.Val1115Gly) c.4190T>G (p.Val1397Gly) c.3710T>G (p.Val1237Gly) | |
| 12 | g.47974150A>G | CA384533520 | COL2A1 | c.4049T>C (p.Val1350Ala) c.4256T>C (p.Val1419Ala) n.3342T>C c.4400T>C (p.Val1467Ala) c.4397T>C (p.Val1466Ala) c.3344T>C (p.Val1115Ala) c.4190T>C (p.Val1397Ala) c.3710T>C (p.Val1237Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974150A>T | CA384533521 | COL2A1 | c.4049T>A (p.Val1350Glu) c.4256T>A (p.Val1419Glu) n.3342T>A c.4400T>A (p.Val1467Glu) c.4397T>A (p.Val1466Glu) c.3344T>A (p.Val1115Glu) c.4190T>A (p.Val1397Glu) c.3710T>A (p.Val1237Glu) | |
| 12 | g.47974151C>A | CA384533523 | COL2A1 | c.4048G>T (p.Val1350Leu) c.4255G>T (p.Val1419Leu) n.3341G>T c.4399G>T (p.Val1467Leu) c.4396G>T (p.Val1466Leu) c.3343G>T (p.Val1115Leu) c.4189G>T (p.Val1397Leu) c.3709G>T (p.Val1237Leu) | |
| 12 | g.47974151C= | CA2034471619 | COL2A1 | c.4048G= (p.Val1350=) c.4255G= (p.Val1419=) n.3341G= c.4399G= (p.Val1467=) c.4396G= (p.Val1466=) c.3343G= (p.Val1115=) c.4189G= (p.Val1397=) c.3709G= (p.Val1237=) | |
| 12 | g.47974151C>G | CA384533522 | COL2A1 | c.4048G>C (p.Val1350Leu) c.4255G>C (p.Val1419Leu) n.3341G>C c.4399G>C (p.Val1467Leu) c.4396G>C (p.Val1466Leu) c.3343G>C (p.Val1115Leu) c.4189G>C (p.Val1397Leu) c.3709G>C (p.Val1237Leu) | |
| 12 | g.47974151C>T | CA6534512 | COL2A1 | c.4048G>A (p.Val1350Met) c.4255G>A (p.Val1419Met) n.3341G>A c.4399G>A (p.Val1467Met) c.4396G>A (p.Val1466Met) c.3343G>A (p.Val1115Met) c.4189G>A (p.Val1397Met) c.3709G>A (p.Val1237Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974152del | CA2697559170 | COL2A1 | c.4047del (p.Asp1349GlufsTer17) c.4254del (p.Asp1418GlufsTer17) n.3340del c.4398del (p.Asp1466GlufsTer17) c.4395del (p.Asp1465GlufsTer17) c.3342del (p.Asp1114GlufsTer17) c.4188del (p.Asp1396GlufsTer17) c.3708del (p.Asp1236GlufsTer17) | ClinVar |
| 12 | g.47974152G>A | CA6534513 | COL2A1 | c.4047C>T (p.Asp1349=) c.4254C>T (p.Asp1418=) n.3340C>T c.4398C>T (p.Asp1466=) c.4395C>T (p.Asp1465=) c.3342C>T (p.Asp1114=) c.4188C>T (p.Asp1396=) c.3708C>T (p.Asp1236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974152G>C | CA384533524 | COL2A1 | c.4047C>G (p.Asp1349Glu) c.4254C>G (p.Asp1418Glu) n.3340C>G c.4398C>G (p.Asp1466Glu) c.4395C>G (p.Asp1465Glu) c.3342C>G (p.Asp1114Glu) c.4188C>G (p.Asp1396Glu) c.3708C>G (p.Asp1236Glu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974152G= | CA2034471626 | COL2A1 | c.4047C= (p.Asp1349=) c.4254C= (p.Asp1418=) n.3340C= c.4398C= (p.Asp1466=) c.4395C= (p.Asp1465=) c.3342C= (p.Asp1114=) c.4188C= (p.Asp1396=) c.3708C= (p.Asp1236=) | |
| 12 | g.47974152G>T | CA384533525 | COL2A1 | c.4047C>A (p.Asp1349Glu) c.4254C>A (p.Asp1418Glu) n.3340C>A c.4398C>A (p.Asp1466Glu) c.4395C>A (p.Asp1465Glu) c.3342C>A (p.Asp1114Glu) c.4188C>A (p.Asp1396Glu) c.3708C>A (p.Asp1236Glu) | |
| 12 | g.47974153T>A | CA384533526 | COL2A1 | c.4046A>T (p.Asp1349Val) c.4253A>T (p.Asp1418Val) n.3339A>T c.4397A>T (p.Asp1466Val) c.4394A>T (p.Asp1465Val) c.3341A>T (p.Asp1114Val) c.4187A>T (p.Asp1396Val) c.3707A>T (p.Asp1236Val) | gnomAD v4 |
| 12 | g.47974153T>C | CA384533527 | COL2A1 | c.4046A>G (p.Asp1349Gly) c.4253A>G (p.Asp1418Gly) n.3339A>G c.4397A>G (p.Asp1466Gly) c.4394A>G (p.Asp1465Gly) c.3341A>G (p.Asp1114Gly) c.4187A>G (p.Asp1396Gly) c.3707A>G (p.Asp1236Gly) | |
| 12 | g.47974153T>G | CA384533528 | COL2A1 | c.4046A>C (p.Asp1349Ala) c.4253A>C (p.Asp1418Ala) n.3339A>C c.4397A>C (p.Asp1466Ala) c.4394A>C (p.Asp1465Ala) c.3341A>C (p.Asp1114Ala) c.4187A>C (p.Asp1396Ala) c.3707A>C (p.Asp1236Ala) | |
| 12 | g.47974154C>A | CA384533531 | COL2A1 | c.4045G>T (p.Asp1349Tyr) c.4252G>T (p.Asp1418Tyr) n.3338G>T c.4396G>T (p.Asp1466Tyr) c.4393G>T (p.Asp1465Tyr) c.3340G>T (p.Asp1114Tyr) c.4186G>T (p.Asp1396Tyr) c.3706G>T (p.Asp1236Tyr) | |
| 12 | g.47974154C= | CA2034471632 | COL2A1 | c.4045G= (p.Asp1349=) c.4252G= (p.Asp1418=) n.3338G= c.4396G= (p.Asp1466=) c.4393G= (p.Asp1465=) c.3340G= (p.Asp1114=) c.4186G= (p.Asp1396=) c.3706G= (p.Asp1236=) | |
| 12 | g.47974154C>G | CA384533529 | COL2A1 | c.4045G>C (p.Asp1349His) c.4252G>C (p.Asp1418His) n.3338G>C c.4396G>C (p.Asp1466His) c.4393G>C (p.Asp1465His) c.3340G>C (p.Asp1114His) c.4186G>C (p.Asp1396His) c.3706G>C (p.Asp1236His) | |
| 12 | g.47974154C>T | CA384533530 | COL2A1 | c.4045G>A (p.Asp1349Asn) c.4252G>A (p.Asp1418Asn) n.3338G>A c.4396G>A (p.Asp1466Asn) c.4393G>A (p.Asp1465Asn) c.3340G>A (p.Asp1114Asn) c.4186G>A (p.Asp1396Asn) c.3706G>A (p.Asp1236Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974155A= | CA2034471636 | COL2A1 | c.4044T= (p.Asn1348=) c.4251T= (p.Asn1417=) n.3337T= c.4395T= (p.Asn1465=) c.4392T= (p.Asn1464=) c.3339T= (p.Asn1113=) c.4185T= (p.Asn1395=) c.3705T= (p.Asn1235=) | |
| 12 | g.47974155A>C | CA384533532 | COL2A1 | c.4044T>G (p.Asn1348Lys) c.4251T>G (p.Asn1417Lys) n.3337T>G c.4395T>G (p.Asn1465Lys) c.4392T>G (p.Asn1464Lys) c.3339T>G (p.Asn1113Lys) c.4185T>G (p.Asn1395Lys) c.3705T>G (p.Asn1235Lys) | gnomAD v4 |
| 12 | g.47974155A>G | CA479450160 | COL2A1 | c.4044T>C (p.Asn1348=) c.4251T>C (p.Asn1417=) n.3337T>C c.4395T>C (p.Asn1465=) c.4392T>C (p.Asn1464=) c.3339T>C (p.Asn1113=) c.4185T>C (p.Asn1395=) c.3705T>C (p.Asn1235=) | |
| 12 | g.47974155A>T | CA384533533 | COL2A1 | c.4044T>A (p.Asn1348Lys) c.4251T>A (p.Asn1417Lys) n.3337T>A c.4395T>A (p.Asn1465Lys) c.4392T>A (p.Asn1464Lys) c.3339T>A (p.Asn1113Lys) c.4185T>A (p.Asn1395Lys) c.3705T>A (p.Asn1235Lys) | dbSNP gnomAD v4 |
| 12 | g.47974156T>A | CA384533534 | COL2A1 | c.4043A>T (p.Asn1348Ile) c.4250A>T (p.Asn1417Ile) n.3336A>T c.4394A>T (p.Asn1465Ile) c.4391A>T (p.Asn1464Ile) c.3338A>T (p.Asn1113Ile) c.4184A>T (p.Asn1395Ile) c.3704A>T (p.Asn1235Ile) | |
| 12 | g.47974156T>C | CA6534514 | COL2A1 | c.4043A>G (p.Asn1348Ser) c.4250A>G (p.Asn1417Ser) n.3336A>G c.4394A>G (p.Asn1465Ser) c.4391A>G (p.Asn1464Ser) c.3338A>G (p.Asn1113Ser) c.4184A>G (p.Asn1395Ser) c.3704A>G (p.Asn1235Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974156T>G | CA384533535 | COL2A1 | c.4043A>C (p.Asn1348Thr) c.4250A>C (p.Asn1417Thr) n.3336A>C c.4394A>C (p.Asn1465Thr) c.4391A>C (p.Asn1464Thr) c.3338A>C (p.Asn1113Thr) c.4184A>C (p.Asn1395Thr) c.3704A>C (p.Asn1235Thr) | |
| 12 | g.47974156T= | CA2034471641 | COL2A1 | c.4043A= (p.Asn1348=) c.4250A= (p.Asn1417=) n.3336A= c.4394A= (p.Asn1465=) c.4391A= (p.Asn1464=) c.3338A= (p.Asn1113=) c.4184A= (p.Asn1395=) c.3704A= (p.Asn1235=) | |
| 12 | g.47974157T>A | CA384533536 | COL2A1 | c.4042A>T (p.Asn1348Tyr) c.4249A>T (p.Asn1417Tyr) n.3335A>T c.4393A>T (p.Asn1465Tyr) c.4390A>T (p.Asn1464Tyr) c.3337A>T (p.Asn1113Tyr) c.4183A>T (p.Asn1395Tyr) c.3703A>T (p.Asn1235Tyr) | |
| 12 | g.47974157T>C | CA384533538 | COL2A1 | c.4042A>G (p.Asn1348Asp) c.4249A>G (p.Asn1417Asp) n.3335A>G c.4393A>G (p.Asn1465Asp) c.4390A>G (p.Asn1464Asp) c.3337A>G (p.Asn1113Asp) c.4183A>G (p.Asn1395Asp) c.3703A>G (p.Asn1235Asp) | |
| 12 | g.47974157T>G | CA384533537 | COL2A1 | c.4042A>C (p.Asn1348His) c.4249A>C (p.Asn1417His) n.3335A>C c.4393A>C (p.Asn1465His) c.4390A>C (p.Asn1464His) c.3337A>C (p.Asn1113His) c.4183A>C (p.Asn1395His) c.3703A>C (p.Asn1235His) | |
| 12 | g.47974158G>A | CA479450161 | COL2A1 | c.4041C>T (p.Ser1347=) c.4248C>T (p.Ser1416=) n.3334C>T c.4392C>T (p.Ser1464=) c.4389C>T (p.Ser1463=) c.3336C>T (p.Ser1112=) c.4182C>T (p.Ser1394=) c.3702C>T (p.Ser1234=) | gnomAD v4 |
| 12 | g.47974158G>C | CA479450162 | COL2A1 | c.4041C>G (p.Ser1347=) c.4248C>G (p.Ser1416=) n.3334C>G c.4392C>G (p.Ser1464=) c.4389C>G (p.Ser1463=) c.3336C>G (p.Ser1112=) c.4182C>G (p.Ser1394=) c.3702C>G (p.Ser1234=) | |
| 12 | g.47974158G>T | CA479450163 | COL2A1 | c.4041C>A (p.Ser1347=) c.4248C>A (p.Ser1416=) n.3334C>A c.4392C>A (p.Ser1464=) c.4389C>A (p.Ser1463=) c.3336C>A (p.Ser1112=) c.4182C>A (p.Ser1394=) c.3702C>A (p.Ser1234=) | |
| 12 | g.47974159G>A | CA6534515 | COL2A1 | c.4040C>T (p.Ser1347Phe) c.4247C>T (p.Ser1416Phe) n.3333C>T c.4391C>T (p.Ser1464Phe) c.4388C>T (p.Ser1463Phe) c.3335C>T (p.Ser1112Phe) c.4181C>T (p.Ser1394Phe) c.3701C>T (p.Ser1234Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974159G>C | CA384533539 | COL2A1 | c.4040C>G (p.Ser1347Cys) c.4247C>G (p.Ser1416Cys) n.3333C>G c.4391C>G (p.Ser1464Cys) c.4388C>G (p.Ser1463Cys) c.3335C>G (p.Ser1112Cys) c.4181C>G (p.Ser1394Cys) c.3701C>G (p.Ser1234Cys) | |
| 12 | g.47974159G= | CA2034471649 | COL2A1 | c.4040C= (p.Ser1347=) c.4247C= (p.Ser1416=) n.3333C= c.4391C= (p.Ser1464=) c.4388C= (p.Ser1463=) c.3335C= (p.Ser1112=) c.4181C= (p.Ser1394=) c.3701C= (p.Ser1234=) | |
| 12 | g.47974159G>T | CA384533540 | COL2A1 | c.4040C>A (p.Ser1347Tyr) c.4247C>A (p.Ser1416Tyr) n.3333C>A c.4391C>A (p.Ser1464Tyr) c.4388C>A (p.Ser1463Tyr) c.3335C>A (p.Ser1112Tyr) c.4181C>A (p.Ser1394Tyr) c.3701C>A (p.Ser1234Tyr) | |
| 12 | g.47974160A>C | CA384533541 | COL2A1 | c.4039T>G (p.Ser1347Ala) c.4246T>G (p.Ser1416Ala) n.3332T>G c.4390T>G (p.Ser1464Ala) c.4387T>G (p.Ser1463Ala) c.3334T>G (p.Ser1112Ala) c.4180T>G (p.Ser1394Ala) c.3700T>G (p.Ser1234Ala) | |
| 12 | g.47974160A>G | CA384533542 | COL2A1 | c.4039T>C (p.Ser1347Pro) c.4246T>C (p.Ser1416Pro) n.3332T>C c.4390T>C (p.Ser1464Pro) c.4387T>C (p.Ser1463Pro) c.3334T>C (p.Ser1112Pro) c.4180T>C (p.Ser1394Pro) c.3700T>C (p.Ser1234Pro) | dbSNP gnomAD v4 |
| 12 | g.47974160A>T | CA384533543 | COL2A1 | c.4039T>A (p.Ser1347Thr) c.4246T>A (p.Ser1416Thr) n.3332T>A c.4390T>A (p.Ser1464Thr) c.4387T>A (p.Ser1463Thr) c.3334T>A (p.Ser1112Thr) c.4180T>A (p.Ser1394Thr) c.3700T>A (p.Ser1234Thr) | dbSNP gnomAD v4 |
| 12 | g.47974161G>A | CA479450164 | COL2A1 | c.4038C>T (p.Gly1346=) c.4245C>T (p.Gly1415=) n.3331C>T c.4389C>T (p.Gly1463=) c.4386C>T (p.Gly1462=) c.3333C>T (p.Gly1111=) c.4179C>T (p.Gly1393=) c.3699C>T (p.Gly1233=) | ClinVar |
| 12 | g.47974161G>C | CA479450165 | COL2A1 | c.4038C>G (p.Gly1346=) c.4245C>G (p.Gly1415=) n.3331C>G c.4389C>G (p.Gly1463=) c.4386C>G (p.Gly1462=) c.3333C>G (p.Gly1111=) c.4179C>G (p.Gly1393=) c.3699C>G (p.Gly1233=) | |
| 12 | g.47974161G>T | CA479450166 | COL2A1 | c.4038C>A (p.Gly1346=) c.4245C>A (p.Gly1415=) n.3331C>A c.4389C>A (p.Gly1463=) c.4386C>A (p.Gly1462=) c.3333C>A (p.Gly1111=) c.4179C>A (p.Gly1393=) c.3699C>A (p.Gly1233=) | gnomAD v4 |
| 12 | g.47974162C>A | CA384533544 | COL2A1 | c.4037G>T (p.Gly1346Val) c.4244G>T (p.Gly1415Val) n.3330G>T c.4388G>T (p.Gly1463Val) c.4385G>T (p.Gly1462Val) c.3332G>T (p.Gly1111Val) c.4178G>T (p.Gly1393Val) c.3698G>T (p.Gly1233Val) | gnomAD v4 |
| 12 | g.47974162C>G | CA384533545 | COL2A1 | c.4037G>C (p.Gly1346Ala) c.4244G>C (p.Gly1415Ala) n.3330G>C c.4388G>C (p.Gly1463Ala) c.4385G>C (p.Gly1462Ala) c.3332G>C (p.Gly1111Ala) c.4178G>C (p.Gly1393Ala) c.3698G>C (p.Gly1233Ala) | dbSNP gnomAD v4 |
| 12 | g.47974162C>T | CA384533546 | COL2A1 | c.4037G>A (p.Gly1346Asp) c.4244G>A (p.Gly1415Asp) n.3330G>A c.4388G>A (p.Gly1463Asp) c.4385G>A (p.Gly1462Asp) c.3332G>A (p.Gly1111Asp) c.4178G>A (p.Gly1393Asp) c.3698G>A (p.Gly1233Asp) | |
| 12 | g.47974163C>A | CA384533547 | COL2A1 | c.4036G>T (p.Gly1346Cys) c.4243G>T (p.Gly1415Cys) n.3329G>T c.4387G>T (p.Gly1463Cys) c.4384G>T (p.Gly1462Cys) c.3331G>T (p.Gly1111Cys) c.4177G>T (p.Gly1393Cys) c.3697G>T (p.Gly1233Cys) | |
| 12 | g.47974163C>G | CA384533548 | COL2A1 | c.4036G>C (p.Gly1346Arg) c.4243G>C (p.Gly1415Arg) n.3329G>C c.4387G>C (p.Gly1463Arg) c.4384G>C (p.Gly1462Arg) c.3331G>C (p.Gly1111Arg) c.4177G>C (p.Gly1393Arg) c.3697G>C (p.Gly1233Arg) | |
| 12 | g.47974163C>T | CA384533549 | COL2A1 | c.4036G>A (p.Gly1346Ser) c.4243G>A (p.Gly1415Ser) n.3329G>A c.4387G>A (p.Gly1463Ser) c.4384G>A (p.Gly1462Ser) c.3331G>A (p.Gly1111Ser) c.4177G>A (p.Gly1393Ser) c.3697G>A (p.Gly1233Ser) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47974164C>A | CA384533550 | COL2A1 | c.4035G>T (p.Gln1345His) c.4242G>T (p.Gln1414His) n.3328G>T c.4386G>T (p.Gln1462His) c.4383G>T (p.Gln1461His) c.3330G>T (p.Gln1110His) c.4176G>T (p.Gln1392His) c.3696G>T (p.Gln1232His) | |
| 12 | g.47974164C>G | CA384533551 | COL2A1 | c.4035G>C (p.Gln1345His) c.4242G>C (p.Gln1414His) n.3328G>C c.4386G>C (p.Gln1462His) c.4383G>C (p.Gln1461His) c.3330G>C (p.Gln1110His) c.4176G>C (p.Gln1392His) c.3696G>C (p.Gln1232His) | |
| 12 | g.47974164C>T | CA479450167 | COL2A1 | c.4035G>A (p.Gln1345=) c.4242G>A (p.Gln1414=) n.3328G>A c.4386G>A (p.Gln1462=) c.4383G>A (p.Gln1461=) c.3330G>A (p.Gln1110=) c.4176G>A (p.Gln1392=) c.3696G>A (p.Gln1232=) | |
| 12 | g.47974165T>A | CA384533552 | COL2A1 | c.4034A>T (p.Gln1345Leu) c.4241A>T (p.Gln1414Leu) n.3327A>T c.4385A>T (p.Gln1462Leu) c.4382A>T (p.Gln1461Leu) c.3329A>T (p.Gln1110Leu) c.4175A>T (p.Gln1392Leu) c.3695A>T (p.Gln1232Leu) | |
| 12 | g.47974165T>C | CA384533554 | COL2A1 | c.4034A>G (p.Gln1345Arg) c.4241A>G (p.Gln1414Arg) n.3327A>G c.4385A>G (p.Gln1462Arg) c.4382A>G (p.Gln1461Arg) c.3329A>G (p.Gln1110Arg) c.4175A>G (p.Gln1392Arg) c.3695A>G (p.Gln1232Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974165T>G | CA384533553 | COL2A1 | c.4034A>C (p.Gln1345Pro) c.4241A>C (p.Gln1414Pro) n.3327A>C c.4385A>C (p.Gln1462Pro) c.4382A>C (p.Gln1461Pro) c.3329A>C (p.Gln1110Pro) c.4175A>C (p.Gln1392Pro) c.3695A>C (p.Gln1232Pro) | |
| 12 | g.47974165T= | CA2034471655 | COL2A1 | c.4034A= (p.Gln1345=) c.4241A= (p.Gln1414=) n.3327A= c.4385A= (p.Gln1462=) c.4382A= (p.Gln1461=) c.3329A= (p.Gln1110=) c.4175A= (p.Gln1392=) c.3695A= (p.Gln1232=) | |
| 12 | g.47974166G>A | CA384533555 | COL2A1 | c.4033C>T (p.Gln1345Ter) c.4240C>T (p.Gln1414Ter) n.3326C>T c.4384C>T (p.Gln1462Ter) c.4381C>T (p.Gln1461Ter) c.3328C>T (p.Gln1110Ter) c.4174C>T (p.Gln1392Ter) c.3694C>T (p.Gln1232Ter) | ClinVar |
| 12 | g.47974166G>C | CA384533556 | COL2A1 | c.4033C>G (p.Gln1345Glu) c.4240C>G (p.Gln1414Glu) n.3326C>G c.4384C>G (p.Gln1462Glu) c.4381C>G (p.Gln1461Glu) c.3328C>G (p.Gln1110Glu) c.4174C>G (p.Gln1392Glu) c.3694C>G (p.Gln1232Glu) | |
| 12 | g.47974166G>T | CA384533557 | COL2A1 | c.4033C>A (p.Gln1345Lys) c.4240C>A (p.Gln1414Lys) n.3326C>A c.4384C>A (p.Gln1462Lys) c.4381C>A (p.Gln1461Lys) c.3328C>A (p.Gln1110Lys) c.4174C>A (p.Gln1392Lys) c.3694C>A (p.Gln1232Lys) | |
| 12 | g.47974168_47974177del | CA2697559171 | COL2A1 | c.4024_4033del (p.Leu1342ArgfsTer21) c.4231_4240del (p.Leu1411ArgfsTer21) n.3317_3326del c.4375_4384del (p.Leu1459ArgfsTer21) c.4372_4381del (p.Leu1458ArgfsTer21) c.3319_3328del (p.Leu1107ArgfsTer21) c.4165_4174del (p.Leu1389ArgfsTer21) c.3685_3694del (p.Leu1229ArgfsTer21) | ClinVar |
| 12 | g.47974167G>A | CA479450168 | COL2A1 | c.4032C>T (p.Ile1344=) c.4239C>T (p.Ile1413=) n.3325C>T c.4383C>T (p.Ile1461=) c.4380C>T (p.Ile1460=) c.3327C>T (p.Ile1109=) c.4173C>T (p.Ile1391=) c.3693C>T (p.Ile1231=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974167G>C | CA384533558 | COL2A1 | c.4032C>G (p.Ile1344Met) c.4239C>G (p.Ile1413Met) n.3325C>G c.4383C>G (p.Ile1461Met) c.4380C>G (p.Ile1460Met) c.3327C>G (p.Ile1109Met) c.4173C>G (p.Ile1391Met) c.3693C>G (p.Ile1231Met) | |
| 12 | g.47974167G= | CA2034471659 | COL2A1 | c.4032C= (p.Ile1344=) c.4239C= (p.Ile1413=) n.3325C= c.4383C= (p.Ile1461=) c.4380C= (p.Ile1460=) c.3327C= (p.Ile1109=) c.4173C= (p.Ile1391=) c.3693C= (p.Ile1231=) | |
| 12 | g.47974167G>T | CA479450169 | COL2A1 | c.4032C>A (p.Ile1344=) c.4239C>A (p.Ile1413=) n.3325C>A c.4383C>A (p.Ile1461=) c.4380C>A (p.Ile1460=) c.3327C>A (p.Ile1109=) c.4173C>A (p.Ile1391=) c.3693C>A (p.Ile1231=) | |
| 12 | g.47974168del | CA2580615167 | COL2A1 | c.4031del (p.Ile1344ThrfsTer22) c.4238del (p.Ile1413ThrfsTer22) n.3324del c.4382del (p.Ile1461ThrfsTer22) c.4379del (p.Ile1460ThrfsTer22) c.3326del (p.Ile1109ThrfsTer22) c.4172del (p.Ile1391ThrfsTer22) c.3692del (p.Ile1231ThrfsTer22) | ClinVar |
| 12 | g.47974168A>C | CA384533559 | COL2A1 | c.4031T>G (p.Ile1344Ser) c.4238T>G (p.Ile1413Ser) n.3324T>G c.4382T>G (p.Ile1461Ser) c.4379T>G (p.Ile1460Ser) c.3326T>G (p.Ile1109Ser) c.4172T>G (p.Ile1391Ser) c.3692T>G (p.Ile1231Ser) | |
| 12 | g.47974168A>G | CA384533560 | COL2A1 | c.4031T>C (p.Ile1344Thr) c.4238T>C (p.Ile1413Thr) n.3324T>C c.4382T>C (p.Ile1461Thr) c.4379T>C (p.Ile1460Thr) c.3326T>C (p.Ile1109Thr) c.4172T>C (p.Ile1391Thr) c.3692T>C (p.Ile1231Thr) | |
| 12 | g.47974168A>T | CA384533561 | COL2A1 | c.4031T>A (p.Ile1344Asn) c.4238T>A (p.Ile1413Asn) n.3324T>A c.4382T>A (p.Ile1461Asn) c.4379T>A (p.Ile1460Asn) c.3326T>A (p.Ile1109Asn) c.4172T>A (p.Ile1391Asn) c.3692T>A (p.Ile1231Asn) | |
| 12 | g.47974169T>A | CA384533562 | COL2A1 | c.4030A>T (p.Ile1344Phe) c.4237A>T (p.Ile1413Phe) n.3323A>T c.4381A>T (p.Ile1461Phe) c.4378A>T (p.Ile1460Phe) c.3325A>T (p.Ile1109Phe) c.4171A>T (p.Ile1391Phe) c.3691A>T (p.Ile1231Phe) | gnomAD v4 |
| 12 | g.47974169T>C | CA384533563 | COL2A1 | c.4030A>G (p.Ile1344Val) c.4237A>G (p.Ile1413Val) n.3323A>G c.4381A>G (p.Ile1461Val) c.4378A>G (p.Ile1460Val) c.3325A>G (p.Ile1109Val) c.4171A>G (p.Ile1391Val) c.3691A>G (p.Ile1231Val) | gnomAD v4 |
| 12 | g.47974169T>G | CA384533564 | COL2A1 | c.4030A>C (p.Ile1344Leu) c.4237A>C (p.Ile1413Leu) n.3323A>C c.4381A>C (p.Ile1461Leu) c.4378A>C (p.Ile1460Leu) c.3325A>C (p.Ile1109Leu) c.4171A>C (p.Ile1391Leu) c.3691A>C (p.Ile1231Leu) | |
| 12 | g.47974170G>A | CA479450172 | COL2A1 | c.4029C>T (p.Leu1343=) c.4236C>T (p.Leu1412=) n.3322C>T c.4380C>T (p.Leu1460=) c.4377C>T (p.Leu1459=) c.3324C>T (p.Leu1108=) c.4170C>T (p.Leu1390=) c.3690C>T (p.Leu1230=) | |
| 12 | g.47974170G>C | CA479450171 | COL2A1 | c.4029C>G (p.Leu1343=) c.4236C>G (p.Leu1412=) n.3322C>G c.4380C>G (p.Leu1460=) c.4377C>G (p.Leu1459=) c.3324C>G (p.Leu1108=) c.4170C>G (p.Leu1390=) c.3690C>G (p.Leu1230=) | |
| 12 | g.47974170G>T | CA479450170 | COL2A1 | c.4029C>A (p.Leu1343=) c.4236C>A (p.Leu1412=) n.3322C>A c.4380C>A (p.Leu1460=) c.4377C>A (p.Leu1459=) c.3324C>A (p.Leu1108=) c.4170C>A (p.Leu1390=) c.3690C>A (p.Leu1230=) | |
| 12 | g.47974171A>C | CA384533565 | COL2A1 | c.4028T>G (p.Leu1343Arg) c.4235T>G (p.Leu1412Arg) n.3321T>G c.4379T>G (p.Leu1460Arg) c.4376T>G (p.Leu1459Arg) c.3323T>G (p.Leu1108Arg) c.4169T>G (p.Leu1390Arg) c.3689T>G (p.Leu1230Arg) | |
| 12 | g.47974171A>G | CA384533566 | COL2A1 | c.4028T>C (p.Leu1343Pro) c.4235T>C (p.Leu1412Pro) n.3321T>C c.4379T>C (p.Leu1460Pro) c.4376T>C (p.Leu1459Pro) c.3323T>C (p.Leu1108Pro) c.4169T>C (p.Leu1390Pro) c.3689T>C (p.Leu1230Pro) | dbSNP |
| 12 | g.47974171A>T | CA384533567 | COL2A1 | c.4028T>A (p.Leu1343His) c.4235T>A (p.Leu1412His) n.3321T>A c.4379T>A (p.Leu1460His) c.4376T>A (p.Leu1459His) c.3323T>A (p.Leu1108His) c.4169T>A (p.Leu1390His) c.3689T>A (p.Leu1230His) | ClinVar gnomAD v4 |
| 12 | g.47974172G>A | CA384533570 | COL2A1 | c.4027C>T (p.Leu1343Phe) c.4234C>T (p.Leu1412Phe) n.3320C>T c.4378C>T (p.Leu1460Phe) c.4375C>T (p.Leu1459Phe) c.3322C>T (p.Leu1108Phe) c.4168C>T (p.Leu1390Phe) c.3688C>T (p.Leu1230Phe) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47974172G>C | CA384533568 | COL2A1 | c.4027C>G (p.Leu1343Val) c.4234C>G (p.Leu1412Val) n.3320C>G c.4378C>G (p.Leu1460Val) c.4375C>G (p.Leu1459Val) c.3322C>G (p.Leu1108Val) c.4168C>G (p.Leu1390Val) c.3688C>G (p.Leu1230Val) | |
| 12 | g.47974172G>T | CA384533569 | COL2A1 | c.4027C>A (p.Leu1343Ile) c.4234C>A (p.Leu1412Ile) n.3320C>A c.4378C>A (p.Leu1460Ile) c.4375C>A (p.Leu1459Ile) c.3322C>A (p.Leu1108Ile) c.4168C>A (p.Leu1390Ile) c.3688C>A (p.Leu1230Ile) | |
| 12 | g.47974173C>A | CA479450173 | COL2A1 | c.4026G>T (p.Leu1342=) c.4233G>T (p.Leu1411=) n.3319G>T c.4377G>T (p.Leu1459=) c.4374G>T (p.Leu1458=) c.3321G>T (p.Leu1107=) c.4167G>T (p.Leu1389=) c.3687G>T (p.Leu1229=) | |
| 12 | g.47974173C>G | CA479450174 | COL2A1 | c.4026G>C (p.Leu1342=) c.4233G>C (p.Leu1411=) n.3319G>C c.4377G>C (p.Leu1459=) c.4374G>C (p.Leu1458=) c.3321G>C (p.Leu1107=) c.4167G>C (p.Leu1389=) c.3687G>C (p.Leu1229=) | |
| 12 | g.47974173C>T | CA479450175 | COL2A1 | c.4026G>A (p.Leu1342=) c.4233G>A (p.Leu1411=) n.3319G>A c.4377G>A (p.Leu1459=) c.4374G>A (p.Leu1458=) c.3321G>A (p.Leu1107=) c.4167G>A (p.Leu1389=) c.3687G>A (p.Leu1229=) | |
| 12 | g.47974173_47974174delinsAG | CA645570624 | COL2A1 | c.4025_4026delinsCT (p.Leu1342Pro) c.4232_4233delinsCT (p.Leu1411Pro) n.3318_3319delinsCT c.4376_4377delinsCT (p.Leu1459Pro) c.4373_4374delinsCT (p.Leu1458Pro) c.3320_3321delinsCT (p.Leu1107Pro) c.4166_4167delinsCT (p.Leu1389Pro) c.3686_3687delinsCT (p.Leu1229Pro) | COSMIC COSMIC |
| 12 | g.47974174A>C | CA384533571 | COL2A1 | c.4025T>G (p.Leu1342Arg) c.4232T>G (p.Leu1411Arg) n.3318T>G c.4376T>G (p.Leu1459Arg) c.4373T>G (p.Leu1458Arg) c.3320T>G (p.Leu1107Arg) c.4166T>G (p.Leu1389Arg) c.3686T>G (p.Leu1229Arg) | |
| 12 | g.47974174A>G | CA384533572 | COL2A1 | c.4025T>C (p.Leu1342Pro) c.4232T>C (p.Leu1411Pro) n.3318T>C c.4376T>C (p.Leu1459Pro) c.4373T>C (p.Leu1458Pro) c.3320T>C (p.Leu1107Pro) c.4166T>C (p.Leu1389Pro) c.3686T>C (p.Leu1229Pro) | ClinVar dbSNP |
| 12 | g.47974174A>T | CA384533573 | COL2A1 | c.4025T>A (p.Leu1342Gln) c.4232T>A (p.Leu1411Gln) n.3318T>A c.4376T>A (p.Leu1459Gln) c.4373T>A (p.Leu1458Gln) c.3320T>A (p.Leu1107Gln) c.4166T>A (p.Leu1389Gln) c.3686T>A (p.Leu1229Gln) | |
| 12 | g.47974175G>A | CA6534516 | COL2A1 | c.4024C>T (p.Leu1342=) c.4231C>T (p.Leu1411=) n.3317C>T c.4375C>T (p.Leu1459=) c.4372C>T (p.Leu1458=) c.3319C>T (p.Leu1107=) c.4165C>T (p.Leu1389=) c.3685C>T (p.Leu1229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974175G>C | CA384533574 | COL2A1 | c.4024C>G (p.Leu1342Val) c.4231C>G (p.Leu1411Val) n.3317C>G c.4375C>G (p.Leu1459Val) c.4372C>G (p.Leu1458Val) c.3319C>G (p.Leu1107Val) c.4165C>G (p.Leu1389Val) c.3685C>G (p.Leu1229Val) | |
| 12 | g.47974175G= | CA2034471664 | COL2A1 | c.4024C= (p.Leu1342=) c.4231C= (p.Leu1411=) n.3317C= c.4375C= (p.Leu1459=) c.4372C= (p.Leu1458=) c.3319C= (p.Leu1107=) c.4165C= (p.Leu1389=) c.3685C= (p.Leu1229=) | |
| 12 | g.47974175G>T | CA384533575 | COL2A1 | c.4024C>A (p.Leu1342Met) c.4231C>A (p.Leu1411Met) n.3317C>A c.4375C>A (p.Leu1459Met) c.4372C>A (p.Leu1458Met) c.3319C>A (p.Leu1107Met) c.4165C>A (p.Leu1389Met) c.3685C>A (p.Leu1229Met) | |
| 12 | g.47974177del | CA1139532521 | COL2A1 | c.4024del (p.Leu1342CysfsTer24) c.4231del (p.Leu1411CysfsTer24) n.3317del c.4375del (p.Leu1459CysfsTer24) c.4372del (p.Leu1458CysfsTer24) c.3319del (p.Leu1107CysfsTer24) c.4165del (p.Leu1389CysfsTer24) c.3685del (p.Leu1229CysfsTer24) | |
| 12 | g.47974176G>A | CA479450176 | COL2A1 | c.4023C>T (p.Ala1341=) c.4230C>T (p.Ala1410=) n.3316C>T c.4374C>T (p.Ala1458=) c.4371C>T (p.Ala1457=) c.3318C>T (p.Ala1106=) c.4164C>T (p.Ala1388=) c.3684C>T (p.Ala1228=) | |
| 12 | g.47974176G>C | CA479450178 | COL2A1 | c.4023C>G (p.Ala1341=) c.4230C>G (p.Ala1410=) n.3316C>G c.4374C>G (p.Ala1458=) c.4371C>G (p.Ala1457=) c.3318C>G (p.Ala1106=) c.4164C>G (p.Ala1388=) c.3684C>G (p.Ala1228=) | |
| 12 | g.47974176G>T | CA479450177 | COL2A1 | c.4023C>A (p.Ala1341=) c.4230C>A (p.Ala1410=) n.3316C>A c.4374C>A (p.Ala1458=) c.4371C>A (p.Ala1457=) c.3318C>A (p.Ala1106=) c.4164C>A (p.Ala1388=) c.3684C>A (p.Ala1228=) | |
| 12 | g.47974177G>A | CA384533576 | COL2A1 | c.4022C>T (p.Ala1341Val) c.4229C>T (p.Ala1410Val) n.3315C>T c.4373C>T (p.Ala1458Val) c.4370C>T (p.Ala1457Val) c.3317C>T (p.Ala1106Val) c.4163C>T (p.Ala1388Val) c.3683C>T (p.Ala1228Val) | dbSNP |
| 12 | g.47974177G>C | CA384533577 | COL2A1 | c.4022C>G (p.Ala1341Gly) c.4229C>G (p.Ala1410Gly) n.3315C>G c.4373C>G (p.Ala1458Gly) c.4370C>G (p.Ala1457Gly) c.3317C>G (p.Ala1106Gly) c.4163C>G (p.Ala1388Gly) c.3683C>G (p.Ala1228Gly) | |
| 12 | g.47974177G>T | CA384533578 | COL2A1 | c.4022C>A (p.Ala1341Asp) c.4229C>A (p.Ala1410Asp) n.3315C>A c.4373C>A (p.Ala1458Asp) c.4370C>A (p.Ala1457Asp) c.3317C>A (p.Ala1106Asp) c.4163C>A (p.Ala1388Asp) c.3683C>A (p.Ala1228Asp) | ClinVar dbSNP |
| 12 | g.47974178C>A | CA384533579 | COL2A1 | c.4021G>T (p.Ala1341Ser) c.4228G>T (p.Ala1410Ser) n.3314G>T c.4372G>T (p.Ala1458Ser) c.4369G>T (p.Ala1457Ser) c.3316G>T (p.Ala1106Ser) c.4162G>T (p.Ala1388Ser) c.3682G>T (p.Ala1228Ser) | gnomAD v4 |
| 12 | g.47974178C= | CA2034471669 | COL2A1 | c.4021G= (p.Ala1341=) c.4228G= (p.Ala1410=) n.3314G= c.4372G= (p.Ala1458=) c.4369G= (p.Ala1457=) c.3316G= (p.Ala1106=) c.4162G= (p.Ala1388=) c.3682G= (p.Ala1228=) | |
| 12 | g.47974178C>G | CA384533580 | COL2A1 | c.4021G>C (p.Ala1341Pro) c.4228G>C (p.Ala1410Pro) n.3314G>C c.4372G>C (p.Ala1458Pro) c.4369G>C (p.Ala1457Pro) c.3316G>C (p.Ala1106Pro) c.4162G>C (p.Ala1388Pro) c.3682G>C (p.Ala1228Pro) | |
| 12 | g.47974178C>T | CA16606622 | COL2A1 | c.4021G>A (p.Ala1341Thr) c.4228G>A (p.Ala1410Thr) n.3314G>A c.4372G>A (p.Ala1458Thr) c.4369G>A (p.Ala1457Thr) c.3316G>A (p.Ala1106Thr) c.4162G>A (p.Ala1388Thr) c.3682G>A (p.Ala1228Thr) | ClinVar dbSNP |
| 12 | g.47974179C>A | CA384533581 | COL2A1 | c.4020G>T (p.Lys1340Asn) c.4227G>T (p.Lys1409Asn) n.3313G>T c.4371G>T (p.Lys1457Asn) c.4368G>T (p.Lys1456Asn) c.3315G>T (p.Lys1105Asn) c.4161G>T (p.Lys1387Asn) c.3681G>T (p.Lys1227Asn) | |
| 12 | g.47974179C>G | CA384533582 | COL2A1 | c.4020G>C (p.Lys1340Asn) c.4227G>C (p.Lys1409Asn) n.3313G>C c.4371G>C (p.Lys1457Asn) c.4368G>C (p.Lys1456Asn) c.3315G>C (p.Lys1105Asn) c.4161G>C (p.Lys1387Asn) c.3681G>C (p.Lys1227Asn) | |
| 12 | g.47974179C>T | CA479450179 | COL2A1 | c.4020G>A (p.Lys1340=) c.4227G>A (p.Lys1409=) n.3313G>A c.4371G>A (p.Lys1457=) c.4368G>A (p.Lys1456=) c.3315G>A (p.Lys1105=) c.4161G>A (p.Lys1387=) c.3681G>A (p.Lys1227=) | gnomAD v4 |
| 12 | g.47974180T>A | CA384533583 | COL2A1 | c.4019A>T (p.Lys1340Met) c.4226A>T (p.Lys1409Met) n.3312A>T c.4370A>T (p.Lys1457Met) c.4367A>T (p.Lys1456Met) c.3314A>T (p.Lys1105Met) c.4160A>T (p.Lys1387Met) c.3680A>T (p.Lys1227Met) | |
| 12 | g.47974180T>C | CA384533584 | COL2A1 | c.4019A>G (p.Lys1340Arg) c.4226A>G (p.Lys1409Arg) n.3312A>G c.4370A>G (p.Lys1457Arg) c.4367A>G (p.Lys1456Arg) c.3314A>G (p.Lys1105Arg) c.4160A>G (p.Lys1387Arg) c.3680A>G (p.Lys1227Arg) | |
| 12 | g.47974180T>G | CA384533585 | COL2A1 | c.4019A>C (p.Lys1340Thr) c.4226A>C (p.Lys1409Thr) n.3312A>C c.4370A>C (p.Lys1457Thr) c.4367A>C (p.Lys1456Thr) c.3314A>C (p.Lys1105Thr) c.4160A>C (p.Lys1387Thr) c.3680A>C (p.Lys1227Thr) | ClinVar dbSNP |
| 12 | g.47974181T>A | CA384533586 | COL2A1 | c.4018A>T (p.Lys1340Ter) c.4225A>T (p.Lys1409Ter) n.3311A>T c.4369A>T (p.Lys1457Ter) c.4366A>T (p.Lys1456Ter) c.3313A>T (p.Lys1105Ter) c.4159A>T (p.Lys1387Ter) c.3679A>T (p.Lys1227Ter) | |
| 12 | g.47974181T>C | CA384533587 | COL2A1 | c.4018A>G (p.Lys1340Glu) c.4225A>G (p.Lys1409Glu) n.3311A>G c.4369A>G (p.Lys1457Glu) c.4366A>G (p.Lys1456Glu) c.3313A>G (p.Lys1105Glu) c.4159A>G (p.Lys1387Glu) c.3679A>G (p.Lys1227Glu) | ClinVar dbSNP |
| 12 | g.47974181T>G | CA384533588 | COL2A1 | c.4018A>C (p.Lys1340Gln) c.4225A>C (p.Lys1409Gln) n.3311A>C c.4369A>C (p.Lys1457Gln) c.4366A>C (p.Lys1456Gln) c.3313A>C (p.Lys1105Gln) c.4159A>C (p.Lys1387Gln) c.3679A>C (p.Lys1227Gln) | |
| 12 | g.47974181T= | CA2034471679 | COL2A1 | c.4018A= (p.Lys1340=) c.4225A= (p.Lys1409=) n.3311A= c.4369A= (p.Lys1457=) c.4366A= (p.Lys1456=) c.3313A= (p.Lys1105=) c.4159A= (p.Lys1387=) c.3679A= (p.Lys1227=) | |
| 12 | g.47974182C>A | CA384533589 | COL2A1 | c.4017G>T (p.Lys1339Asn) c.4224G>T (p.Lys1408Asn) n.3310G>T c.4368G>T (p.Lys1456Asn) c.4365G>T (p.Lys1455Asn) c.3312G>T (p.Lys1104Asn) c.4158G>T (p.Lys1386Asn) c.3678G>T (p.Lys1226Asn) | |
| 12 | g.47974182C>G | CA384533590 | COL2A1 | c.4017G>C (p.Lys1339Asn) c.4224G>C (p.Lys1408Asn) n.3310G>C c.4368G>C (p.Lys1456Asn) c.4365G>C (p.Lys1455Asn) c.3312G>C (p.Lys1104Asn) c.4158G>C (p.Lys1386Asn) c.3678G>C (p.Lys1226Asn) | |
| 12 | g.47974182C>T | CA479450180 | COL2A1 | c.4017G>A (p.Lys1339=) c.4224G>A (p.Lys1408=) n.3310G>A c.4368G>A (p.Lys1456=) c.4365G>A (p.Lys1455=) c.3312G>A (p.Lys1104=) c.4158G>A (p.Lys1386=) c.3678G>A (p.Lys1226=) | |
| 12 | g.47974183T>A | CA384533591 | COL2A1 | c.4016A>T (p.Lys1339Met) c.4223A>T (p.Lys1408Met) n.3309A>T c.4367A>T (p.Lys1456Met) c.4364A>T (p.Lys1455Met) c.3311A>T (p.Lys1104Met) c.4157A>T (p.Lys1386Met) c.3677A>T (p.Lys1226Met) | |
| 12 | g.47974183T>C | CA384533593 | COL2A1 | c.4016A>G (p.Lys1339Arg) c.4223A>G (p.Lys1408Arg) n.3309A>G c.4367A>G (p.Lys1456Arg) c.4364A>G (p.Lys1455Arg) c.3311A>G (p.Lys1104Arg) c.4157A>G (p.Lys1386Arg) c.3677A>G (p.Lys1226Arg) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47974183T>G | CA384533592 | COL2A1 | c.4016A>C (p.Lys1339Thr) c.4223A>C (p.Lys1408Thr) n.3309A>C c.4367A>C (p.Lys1456Thr) c.4364A>C (p.Lys1455Thr) c.3311A>C (p.Lys1104Thr) c.4157A>C (p.Lys1386Thr) c.3677A>C (p.Lys1226Thr) | |
| 12 | g.47974184T>A | CA384533594 | COL2A1 | c.4015A>T (p.Lys1339Ter) c.4222A>T (p.Lys1408Ter) n.3308A>T c.4366A>T (p.Lys1456Ter) c.4363A>T (p.Lys1455Ter) c.3310A>T (p.Lys1104Ter) c.4156A>T (p.Lys1386Ter) c.3676A>T (p.Lys1226Ter) | |
| 12 | g.47974184T>C | CA384533595 | COL2A1 | c.4015A>G (p.Lys1339Glu) c.4222A>G (p.Lys1408Glu) n.3308A>G c.4366A>G (p.Lys1456Glu) c.4363A>G (p.Lys1455Glu) c.3310A>G (p.Lys1104Glu) c.4156A>G (p.Lys1386Glu) c.3676A>G (p.Lys1226Glu) | ClinVar |
| 12 | g.47974184T>G | CA384533596 | COL2A1 | c.4015A>C (p.Lys1339Gln) c.4222A>C (p.Lys1408Gln) n.3308A>C c.4366A>C (p.Lys1456Gln) c.4363A>C (p.Lys1455Gln) c.3310A>C (p.Lys1104Gln) c.4156A>C (p.Lys1386Gln) c.3676A>C (p.Lys1226Gln) | gnomAD v4 |
| 12 | g.47974185G>A | CA479450181 | COL2A1 | c.4014C>T (p.Leu1338=) c.4221C>T (p.Leu1407=) n.3307C>T c.4365C>T (p.Leu1455=) c.4362C>T (p.Leu1454=) c.3309C>T (p.Leu1103=) c.4155C>T (p.Leu1385=) c.3675C>T (p.Leu1225=) | |
| 12 | g.47974185G>C | CA6534517 | COL2A1 | c.4014C>G (p.Leu1338=) c.4221C>G (p.Leu1407=) n.3307C>G c.4365C>G (p.Leu1455=) c.4362C>G (p.Leu1454=) c.3309C>G (p.Leu1103=) c.4155C>G (p.Leu1385=) c.3675C>G (p.Leu1225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974185G= | CA2034471684 | COL2A1 | c.4014C= (p.Leu1338=) c.4221C= (p.Leu1407=) n.3307C= c.4365C= (p.Leu1455=) c.4362C= (p.Leu1454=) c.3309C= (p.Leu1103=) c.4155C= (p.Leu1385=) c.3675C= (p.Leu1225=) | |
| 12 | g.47974185G>T | CA479450182 | COL2A1 | c.4014C>A (p.Leu1338=) c.4221C>A (p.Leu1407=) n.3307C>A c.4365C>A (p.Leu1455=) c.4362C>A (p.Leu1454=) c.3309C>A (p.Leu1103=) c.4155C>A (p.Leu1385=) c.3675C>A (p.Leu1225=) | |
| 12 | g.47974186A>C | CA384533597 | COL2A1 | c.4013T>G (p.Leu1338Arg) c.4220T>G (p.Leu1407Arg) n.3306T>G c.4364T>G (p.Leu1455Arg) c.4361T>G (p.Leu1454Arg) c.3308T>G (p.Leu1103Arg) c.4154T>G (p.Leu1385Arg) c.3674T>G (p.Leu1225Arg) | |
| 12 | g.47974186A>G | CA384533599 | COL2A1 | c.4013T>C (p.Leu1338Pro) c.4220T>C (p.Leu1407Pro) n.3306T>C c.4364T>C (p.Leu1455Pro) c.4361T>C (p.Leu1454Pro) c.3308T>C (p.Leu1103Pro) c.4154T>C (p.Leu1385Pro) c.3674T>C (p.Leu1225Pro) | |
| 12 | g.47974186A>T | CA384533598 | COL2A1 | c.4013T>A (p.Leu1338His) c.4220T>A (p.Leu1407His) n.3306T>A c.4364T>A (p.Leu1455His) c.4361T>A (p.Leu1454His) c.3308T>A (p.Leu1103His) c.4154T>A (p.Leu1385His) c.3674T>A (p.Leu1225His) | |
| 12 | g.47974187G>A | CA384533600 | COL2A1 | c.4012C>T (p.Leu1338Phe) c.4219C>T (p.Leu1407Phe) n.3305C>T c.4363C>T (p.Leu1455Phe) c.4360C>T (p.Leu1454Phe) c.3307C>T (p.Leu1103Phe) c.4153C>T (p.Leu1385Phe) c.3673C>T (p.Leu1225Phe) | dbSNP |
| 12 | g.47974187G>C | CA384533601 | COL2A1 | c.4012C>G (p.Leu1338Val) c.4219C>G (p.Leu1407Val) n.3305C>G c.4363C>G (p.Leu1455Val) c.4360C>G (p.Leu1454Val) c.3307C>G (p.Leu1103Val) c.4153C>G (p.Leu1385Val) c.3673C>G (p.Leu1225Val) | |
| 12 | g.47974187G>T | CA384533602 | COL2A1 | c.4012C>A (p.Leu1338Ile) c.4219C>A (p.Leu1407Ile) n.3305C>A c.4363C>A (p.Leu1455Ile) c.4360C>A (p.Leu1454Ile) c.3307C>A (p.Leu1103Ile) c.4153C>A (p.Leu1385Ile) c.3673C>A (p.Leu1225Ile) | |
| 12 | g.47974188G>A | CA479450183 | COL2A1 | c.4011C>T (p.Asn1337=) c.4218C>T (p.Asn1406=) n.3304C>T c.4362C>T (p.Asn1454=) c.4359C>T (p.Asn1453=) c.3306C>T (p.Asn1102=) c.4152C>T (p.Asn1384=) c.3672C>T (p.Asn1224=) | gnomAD v4 |
| 12 | g.47974188G>C | CA384533603 | COL2A1 | c.4011C>G (p.Asn1337Lys) c.4218C>G (p.Asn1406Lys) n.3304C>G c.4362C>G (p.Asn1454Lys) c.4359C>G (p.Asn1453Lys) c.3306C>G (p.Asn1102Lys) c.4152C>G (p.Asn1384Lys) c.3672C>G (p.Asn1224Lys) | |
| 12 | g.47974188G>T | CA384533604 | COL2A1 | c.4011C>A (p.Asn1337Lys) c.4218C>A (p.Asn1406Lys) n.3304C>A c.4362C>A (p.Asn1454Lys) c.4359C>A (p.Asn1453Lys) c.3306C>A (p.Asn1102Lys) c.4152C>A (p.Asn1384Lys) c.3672C>A (p.Asn1224Lys) | ClinVar gnomAD v4 |
| 12 | g.47974189T>A | CA384533605 | COL2A1 | c.4010A>T (p.Asn1337Ile) c.4217A>T (p.Asn1406Ile) n.3303A>T c.4361A>T (p.Asn1454Ile) c.4358A>T (p.Asn1453Ile) c.3305A>T (p.Asn1102Ile) c.4151A>T (p.Asn1384Ile) c.3671A>T (p.Asn1224Ile) | |
| 12 | g.47974189T>C | CA384533606 | COL2A1 | c.4010A>G (p.Asn1337Ser) c.4217A>G (p.Asn1406Ser) n.3303A>G c.4361A>G (p.Asn1454Ser) c.4358A>G (p.Asn1453Ser) c.3305A>G (p.Asn1102Ser) c.4151A>G (p.Asn1384Ser) c.3671A>G (p.Asn1224Ser) | |
| 12 | g.47974189T>G | CA384533607 | COL2A1 | c.4010A>C (p.Asn1337Thr) c.4217A>C (p.Asn1406Thr) n.3303A>C c.4361A>C (p.Asn1454Thr) c.4358A>C (p.Asn1453Thr) c.3305A>C (p.Asn1102Thr) c.4151A>C (p.Asn1384Thr) c.3671A>C (p.Asn1224Thr) | dbSNP |
| 12 | g.47974189T= | CA2034471690 | COL2A1 | c.4010A= (p.Asn1337=) c.4217A= (p.Asn1406=) n.3303A= c.4361A= (p.Asn1454=) c.4358A= (p.Asn1453=) c.3305A= (p.Asn1102=) c.4151A= (p.Asn1384=) c.3671A= (p.Asn1224=) | |
| 12 | g.47974190T>A | CA384533608 | COL2A1 | c.4009A>T (p.Asn1337Tyr) c.4216A>T (p.Asn1406Tyr) n.3302A>T c.4360A>T (p.Asn1454Tyr) c.4357A>T (p.Asn1453Tyr) c.3304A>T (p.Asn1102Tyr) c.4150A>T (p.Asn1384Tyr) c.3670A>T (p.Asn1224Tyr) | |
| 12 | g.47974190T>C | CA384533609 | COL2A1 | c.4009A>G (p.Asn1337Asp) c.4216A>G (p.Asn1406Asp) n.3302A>G c.4360A>G (p.Asn1454Asp) c.4357A>G (p.Asn1453Asp) c.3304A>G (p.Asn1102Asp) c.4150A>G (p.Asn1384Asp) c.3670A>G (p.Asn1224Asp) | |
| 12 | g.47974190T>G | CA384533610 | COL2A1 | c.4009A>C (p.Asn1337His) c.4216A>C (p.Asn1406His) n.3302A>C c.4360A>C (p.Asn1454His) c.4357A>C (p.Asn1453His) c.3304A>C (p.Asn1102His) c.4150A>C (p.Asn1384His) c.3670A>C (p.Asn1224His) | |
| 12 | g.47974191G>A | CA479450184 | COL2A1 | c.4008C>T (p.Gly1336=) c.4215C>T (p.Gly1405=) n.3301C>T c.4359C>T (p.Gly1453=) c.4356C>T (p.Gly1452=) c.3303C>T (p.Gly1101=) c.4149C>T (p.Gly1383=) c.3669C>T (p.Gly1223=) | gnomAD v4 |
| 12 | g.47974191G>C | CA479450185 | COL2A1 | c.4008C>G (p.Gly1336=) c.4215C>G (p.Gly1405=) n.3301C>G c.4359C>G (p.Gly1453=) c.4356C>G (p.Gly1452=) c.3303C>G (p.Gly1101=) c.4149C>G (p.Gly1383=) c.3669C>G (p.Gly1223=) | |
| 12 | g.47974191G>T | CA479450186 | COL2A1 | c.4008C>A (p.Gly1336=) c.4215C>A (p.Gly1405=) n.3301C>A c.4359C>A (p.Gly1453=) c.4356C>A (p.Gly1452=) c.3303C>A (p.Gly1101=) c.4149C>A (p.Gly1383=) c.3669C>A (p.Gly1223=) | |
| 12 | g.47974192C>A | CA384533611 | COL2A1 | c.4007G>T (p.Gly1336Val) c.4214G>T (p.Gly1405Val) n.3300G>T c.4358G>T (p.Gly1453Val) c.4355G>T (p.Gly1452Val) c.3302G>T (p.Gly1101Val) c.4148G>T (p.Gly1383Val) c.3668G>T (p.Gly1223Val) | |
| 12 | g.47974192C>G | CA384533613 | COL2A1 | c.4007G>C (p.Gly1336Ala) c.4214G>C (p.Gly1405Ala) n.3300G>C c.4358G>C (p.Gly1453Ala) c.4355G>C (p.Gly1452Ala) c.3302G>C (p.Gly1101Ala) c.4148G>C (p.Gly1383Ala) c.3668G>C (p.Gly1223Ala) | |
| 12 | g.47974192C>T | CA384533612 | COL2A1 | c.4007G>A (p.Gly1336Asp) c.4214G>A (p.Gly1405Asp) n.3300G>A c.4358G>A (p.Gly1453Asp) c.4355G>A (p.Gly1452Asp) c.3302G>A (p.Gly1101Asp) c.4148G>A (p.Gly1383Asp) c.3668G>A (p.Gly1223Asp) | |
| 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) | |
| 12 | g.47974207A>G | CA384533644 | COL2A1 | c.3992T>C (p.Leu1331Pro) c.4199T>C (p.Leu1400Pro) n.3285T>C c.4343T>C (p.Leu1448Pro) c.4340T>C (p.Leu1447Pro) c.3287T>C (p.Leu1096Pro) c.4133T>C (p.Leu1378Pro) c.3653T>C (p.Leu1218Pro) | |
| 12 | g.47974207A>T | CA384533645 | COL2A1 | c.3992T>A (p.Leu1331Gln) c.4199T>A (p.Leu1400Gln) n.3285T>A c.4343T>A (p.Leu1448Gln) c.4340T>A (p.Leu1447Gln) c.3287T>A (p.Leu1096Gln) c.4133T>A (p.Leu1378Gln) c.3653T>A (p.Leu1218Gln) | COSMIC COSMIC |
| 12 | g.47974208G>A | CA479450197 | COL2A1 | c.3991C>T (p.Leu1331=) c.4198C>T (p.Leu1400=) n.3284C>T c.4342C>T (p.Leu1448=) c.4339C>T (p.Leu1447=) c.3286C>T (p.Leu1096=) c.4132C>T (p.Leu1378=) c.3652C>T (p.Leu1218=) | |
| 12 | g.47974208G>C | CA384533646 | COL2A1 | c.3991C>G (p.Leu1331Val) c.4198C>G (p.Leu1400Val) n.3284C>G c.4342C>G (p.Leu1448Val) c.4339C>G (p.Leu1447Val) c.3286C>G (p.Leu1096Val) c.4132C>G (p.Leu1378Val) c.3652C>G (p.Leu1218Val) | |
| 12 | g.47974208G>T | CA384533647 | COL2A1 | c.3991C>A (p.Leu1331Met) c.4198C>A (p.Leu1400Met) n.3284C>A c.4342C>A (p.Leu1448Met) c.4339C>A (p.Leu1447Met) c.3286C>A (p.Leu1096Met) c.4132C>A (p.Leu1378Met) c.3652C>A (p.Leu1218Met) | |
| 12 | g.47974209A= | CA2034471737 | COL2A1 | c.3990T= (p.Tyr1330=) c.4197T= (p.Tyr1399=) n.3283T= c.4341T= (p.Tyr1447=) c.4338T= (p.Tyr1446=) c.3285T= (p.Tyr1095=) c.4131T= (p.Tyr1377=) c.3651T= (p.Tyr1217=) | |
| 12 | g.47974209A>C | CA384533648 | COL2A1 | c.3990T>G (p.Tyr1330Ter) c.4197T>G (p.Tyr1399Ter) n.3283T>G c.4341T>G (p.Tyr1447Ter) c.4338T>G (p.Tyr1446Ter) c.3285T>G (p.Tyr1095Ter) c.4131T>G (p.Tyr1377Ter) c.3651T>G (p.Tyr1217Ter) | |
| 12 | g.47974209A>G | CA479450198 | COL2A1 | c.3990T>C (p.Tyr1330=) c.4197T>C (p.Tyr1399=) n.3283T>C c.4341T>C (p.Tyr1447=) c.4338T>C (p.Tyr1446=) c.3285T>C (p.Tyr1095=) c.4131T>C (p.Tyr1377=) c.3651T>C (p.Tyr1217=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974209A>T | CA384533649 | COL2A1 | c.3990T>A (p.Tyr1330Ter) c.4197T>A (p.Tyr1399Ter) n.3283T>A c.4341T>A (p.Tyr1447Ter) c.4338T>A (p.Tyr1446Ter) c.3285T>A (p.Tyr1095Ter) c.4131T>A (p.Tyr1377Ter) c.3651T>A (p.Tyr1217Ter) | |
| 12 | g.47974210T>A | CA384533650 | COL2A1 | c.3989A>T (p.Tyr1330Phe) c.4196A>T (p.Tyr1399Phe) n.3282A>T c.4340A>T (p.Tyr1447Phe) c.4337A>T (p.Tyr1446Phe) c.3284A>T (p.Tyr1095Phe) c.4130A>T (p.Tyr1377Phe) c.3650A>T (p.Tyr1217Phe) | |
| 12 | g.47974210T>C | CA384533651 | COL2A1 | c.3989A>G (p.Tyr1330Cys) c.4196A>G (p.Tyr1399Cys) n.3282A>G c.4340A>G (p.Tyr1447Cys) c.4337A>G (p.Tyr1446Cys) c.3284A>G (p.Tyr1095Cys) c.4130A>G (p.Tyr1377Cys) c.3650A>G (p.Tyr1217Cys) | gnomAD v4 |
| 12 | g.47974210T>G | CA384533652 | COL2A1 | c.3989A>C (p.Tyr1330Ser) c.4196A>C (p.Tyr1399Ser) n.3282A>C c.4340A>C (p.Tyr1447Ser) c.4337A>C (p.Tyr1446Ser) c.3284A>C (p.Tyr1095Ser) c.4130A>C (p.Tyr1377Ser) c.3650A>C (p.Tyr1217Ser) | |
| 12 | g.47974211A>C | CA384533653 | COL2A1 | c.3988T>G (p.Tyr1330Asp) c.4195T>G (p.Tyr1399Asp) n.3281T>G c.4339T>G (p.Tyr1447Asp) c.4336T>G (p.Tyr1446Asp) c.3283T>G (p.Tyr1095Asp) c.4129T>G (p.Tyr1377Asp) c.3649T>G (p.Tyr1217Asp) | |
| 12 | g.47974211A>G | CA384533654 | COL2A1 | c.3988T>C (p.Tyr1330His) c.4195T>C (p.Tyr1399His) n.3281T>C c.4339T>C (p.Tyr1447His) c.4336T>C (p.Tyr1446His) c.3283T>C (p.Tyr1095His) c.4129T>C (p.Tyr1377His) c.3649T>C (p.Tyr1217His) | |
| 12 | g.47974211A>T | CA384533655 | COL2A1 | c.3988T>A (p.Tyr1330Asn) c.4195T>A (p.Tyr1399Asn) n.3281T>A c.4339T>A (p.Tyr1447Asn) c.4336T>A (p.Tyr1446Asn) c.3283T>A (p.Tyr1095Asn) c.4129T>A (p.Tyr1377Asn) c.3649T>A (p.Tyr1217Asn) | |
| 12 | g.47974212G>A | CA236516033 | COL2A1 | c.3987C>T (p.Ala1329=) c.4194C>T (p.Ala1398=) n.3280C>T c.4338C>T (p.Ala1446=) c.4335C>T (p.Ala1445=) c.3282C>T (p.Ala1094=) c.4128C>T (p.Ala1376=) c.3648C>T (p.Ala1216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974212G>C | CA479450199 | COL2A1 | c.3987C>G (p.Ala1329=) c.4194C>G (p.Ala1398=) n.3280C>G c.4338C>G (p.Ala1446=) c.4335C>G (p.Ala1445=) c.3282C>G (p.Ala1094=) c.4128C>G (p.Ala1376=) c.3648C>G (p.Ala1216=) | |
| 12 | g.47974212G= | CA2034471742 | COL2A1 | c.3987C= (p.Ala1329=) c.4194C= (p.Ala1398=) n.3280C= c.4338C= (p.Ala1446=) c.4335C= (p.Ala1445=) c.3282C= (p.Ala1094=) c.4128C= (p.Ala1376=) c.3648C= (p.Ala1216=) | |
| 12 | g.47974212G>T | CA479450200 | COL2A1 | c.3987C>A (p.Ala1329=) c.4194C>A (p.Ala1398=) n.3280C>A c.4338C>A (p.Ala1446=) c.4335C>A (p.Ala1445=) c.3282C>A (p.Ala1094=) c.4128C>A (p.Ala1376=) c.3648C>A (p.Ala1216=) | |
| 12 | g.47974213G>A | CA6534521 | COL2A1 | c.3986C>T (p.Ala1329Val) c.4193C>T (p.Ala1398Val) n.3279C>T c.4337C>T (p.Ala1446Val) c.4334C>T (p.Ala1445Val) c.3281C>T (p.Ala1094Val) c.4127C>T (p.Ala1376Val) c.3647C>T (p.Ala1216Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974213G>C | CA384533656 | COL2A1 | c.3986C>G (p.Ala1329Gly) c.4193C>G (p.Ala1398Gly) n.3279C>G c.4337C>G (p.Ala1446Gly) c.4334C>G (p.Ala1445Gly) c.3281C>G (p.Ala1094Gly) c.4127C>G (p.Ala1376Gly) c.3647C>G (p.Ala1216Gly) | |
| 12 | g.47974213G= | CA2034471748 | COL2A1 | c.3986C= (p.Ala1329=) c.4193C= (p.Ala1398=) n.3279C= c.4337C= (p.Ala1446=) c.4334C= (p.Ala1445=) c.3281C= (p.Ala1094=) c.4127C= (p.Ala1376=) c.3647C= (p.Ala1216=) | |
| 12 | g.47974213G>T | CA384533657 | COL2A1 | c.3986C>A (p.Ala1329Asp) c.4193C>A (p.Ala1398Asp) n.3279C>A c.4337C>A (p.Ala1446Asp) c.4334C>A (p.Ala1445Asp) c.3281C>A (p.Ala1094Asp) c.4127C>A (p.Ala1376Asp) c.3647C>A (p.Ala1216Asp) | |
| 12 | g.47974214C>A | CA384533658 | COL2A1 | c.3985G>T (p.Ala1329Ser) c.4192G>T (p.Ala1398Ser) n.3278G>T c.4336G>T (p.Ala1446Ser) c.4333G>T (p.Ala1445Ser) c.3280G>T (p.Ala1094Ser) c.4126G>T (p.Ala1376Ser) c.3646G>T (p.Ala1216Ser) | |
| 12 | g.47974214C>G | CA384533659 | COL2A1 | c.3985G>C (p.Ala1329Pro) c.4192G>C (p.Ala1398Pro) n.3278G>C c.4336G>C (p.Ala1446Pro) c.4333G>C (p.Ala1445Pro) c.3280G>C (p.Ala1094Pro) c.4126G>C (p.Ala1376Pro) c.3646G>C (p.Ala1216Pro) | |
| 12 | g.47974214C>T | CA384533660 | COL2A1 | c.3985G>A (p.Ala1329Thr) c.4192G>A (p.Ala1398Thr) n.3278G>A c.4336G>A (p.Ala1446Thr) c.4333G>A (p.Ala1445Thr) c.3280G>A (p.Ala1094Thr) c.4126G>A (p.Ala1376Thr) c.3646G>A (p.Ala1216Thr) | |
| 12 | g.47974215A>C | CA384533661 | COL2A1 | c.3984T>G (p.Ile1328Met) c.4191T>G (p.Ile1397Met) n.3277T>G c.4335T>G (p.Ile1445Met) c.4332T>G (p.Ile1444Met) c.3279T>G (p.Ile1093Met) c.4125T>G (p.Ile1375Met) c.3645T>G (p.Ile1215Met) | |
| 12 | g.47974215A>G | CA479450201 | COL2A1 | c.3984T>C (p.Ile1328=) c.4191T>C (p.Ile1397=) n.3277T>C c.4335T>C (p.Ile1445=) c.4332T>C (p.Ile1444=) c.3279T>C (p.Ile1093=) c.4125T>C (p.Ile1375=) c.3645T>C (p.Ile1215=) | |
| 12 | g.47974215A>T | CA479450202 | COL2A1 | c.3984T>A (p.Ile1328=) c.4191T>A (p.Ile1397=) n.3277T>A c.4335T>A (p.Ile1445=) c.4332T>A (p.Ile1444=) c.3279T>A (p.Ile1093=) c.4125T>A (p.Ile1375=) c.3645T>A (p.Ile1215=) | |
| 12 | g.47974216A>C | CA384533662 | COL2A1 | c.3983T>G (p.Ile1328Ser) c.4190T>G (p.Ile1397Ser) n.3276T>G c.4334T>G (p.Ile1445Ser) c.4331T>G (p.Ile1444Ser) c.3278T>G (p.Ile1093Ser) c.4124T>G (p.Ile1375Ser) c.3644T>G (p.Ile1215Ser) | |
| 12 | g.47974216A>G | CA384533663 | COL2A1 | c.3983T>C (p.Ile1328Thr) c.4190T>C (p.Ile1397Thr) n.3276T>C c.4334T>C (p.Ile1445Thr) c.4331T>C (p.Ile1444Thr) c.3278T>C (p.Ile1093Thr) c.4124T>C (p.Ile1375Thr) c.3644T>C (p.Ile1215Thr) | gnomAD v4 |
| 12 | g.47974216A>T | CA384533664 | COL2A1 | c.3983T>A (p.Ile1328Asn) c.4190T>A (p.Ile1397Asn) n.3276T>A c.4334T>A (p.Ile1445Asn) c.4331T>A (p.Ile1444Asn) c.3278T>A (p.Ile1093Asn) c.4124T>A (p.Ile1375Asn) c.3644T>A (p.Ile1215Asn) | |
| 12 | g.47974217T>A | CA384533665 | COL2A1 | c.3982A>T (p.Ile1328Phe) c.4189A>T (p.Ile1397Phe) n.3275A>T c.4333A>T (p.Ile1445Phe) c.4330A>T (p.Ile1444Phe) c.3277A>T (p.Ile1093Phe) c.4123A>T (p.Ile1375Phe) c.3643A>T (p.Ile1215Phe) | |
| 12 | g.47974217T>C | CA384533666 | COL2A1 | c.3982A>G (p.Ile1328Val) c.4189A>G (p.Ile1397Val) n.3275A>G c.4333A>G (p.Ile1445Val) c.4330A>G (p.Ile1444Val) c.3277A>G (p.Ile1093Val) c.4123A>G (p.Ile1375Val) c.3643A>G (p.Ile1215Val) | |
| 12 | g.47974217T>G | CA384533667 | COL2A1 | c.3982A>C (p.Ile1328Leu) c.4189A>C (p.Ile1397Leu) n.3275A>C c.4333A>C (p.Ile1445Leu) c.4330A>C (p.Ile1444Leu) c.3277A>C (p.Ile1093Leu) c.4123A>C (p.Ile1375Leu) c.3643A>C (p.Ile1215Leu) | |
| 12 | g.47974218G>A | CA479450203 | COL2A1 | c.3981C>T (p.Ser1327=) c.4188C>T (p.Ser1396=) n.3274C>T c.4332C>T (p.Ser1444=) c.4329C>T (p.Ser1443=) c.3276C>T (p.Ser1092=) c.4122C>T (p.Ser1374=) c.3642C>T (p.Ser1214=) | |
| 12 | g.47974218G>C | CA384533668 | COL2A1 | c.3981C>G (p.Ser1327Arg) c.4188C>G (p.Ser1396Arg) n.3274C>G c.4332C>G (p.Ser1444Arg) c.4329C>G (p.Ser1443Arg) c.3276C>G (p.Ser1092Arg) c.4122C>G (p.Ser1374Arg) c.3642C>G (p.Ser1214Arg) | |
| 12 | g.47974218G>T | CA384533669 | COL2A1 | c.3981C>A (p.Ser1327Arg) c.4188C>A (p.Ser1396Arg) n.3274C>A c.4332C>A (p.Ser1444Arg) c.4329C>A (p.Ser1443Arg) c.3276C>A (p.Ser1092Arg) c.4122C>A (p.Ser1374Arg) c.3642C>A (p.Ser1214Arg) | |
| 12 | g.47974219C>A | CA384533671 | COL2A1 | c.3980G>T (p.Ser1327Ile) c.4187G>T (p.Ser1396Ile) n.3273G>T c.4331G>T (p.Ser1444Ile) c.4328G>T (p.Ser1443Ile) c.3275G>T (p.Ser1092Ile) c.4121G>T (p.Ser1374Ile) c.3641G>T (p.Ser1214Ile) | |
| 12 | g.47974219C>G | CA384533672 | COL2A1 | c.3980G>C (p.Ser1327Thr) c.4187G>C (p.Ser1396Thr) n.3273G>C c.4331G>C (p.Ser1444Thr) c.4328G>C (p.Ser1443Thr) c.3275G>C (p.Ser1092Thr) c.4121G>C (p.Ser1374Thr) c.3641G>C (p.Ser1214Thr) | |
| 12 | g.47974219C>T | CA384533670 | COL2A1 | c.3980G>A (p.Ser1327Asn) c.4187G>A (p.Ser1396Asn) n.3273G>A c.4331G>A (p.Ser1444Asn) c.4328G>A (p.Ser1443Asn) c.3275G>A (p.Ser1092Asn) c.4121G>A (p.Ser1374Asn) c.3641G>A (p.Ser1214Asn) | COSMIC COSMIC |
| 12 | g.47974220T>A | CA384533674 | COL2A1 | c.3979A>T (p.Ser1327Cys) c.4186A>T (p.Ser1396Cys) n.3272A>T c.4330A>T (p.Ser1444Cys) c.4327A>T (p.Ser1443Cys) c.3274A>T (p.Ser1092Cys) c.4120A>T (p.Ser1374Cys) c.3640A>T (p.Ser1214Cys) | |
| 12 | g.47974220T>C | CA384533673 | COL2A1 | c.3979A>G (p.Ser1327Gly) c.4186A>G (p.Ser1396Gly) n.3272A>G c.4330A>G (p.Ser1444Gly) c.4327A>G (p.Ser1443Gly) c.3274A>G (p.Ser1092Gly) c.4120A>G (p.Ser1374Gly) c.3640A>G (p.Ser1214Gly) | |
| 12 | g.47974220T>G | CA384533675 | COL2A1 | c.3979A>C (p.Ser1327Arg) c.4186A>C (p.Ser1396Arg) n.3272A>C c.4330A>C (p.Ser1444Arg) c.4327A>C (p.Ser1443Arg) c.3274A>C (p.Ser1092Arg) c.4120A>C (p.Ser1374Arg) c.3640A>C (p.Ser1214Arg) | |
| 12 | g.47974221G>A | CA479450204 | COL2A1 | c.3978C>T (p.Asn1326=) c.4185C>T (p.Asn1395=) n.3271C>T c.4329C>T (p.Asn1443=) c.4326C>T (p.Asn1442=) c.3273C>T (p.Asn1091=) c.4119C>T (p.Asn1373=) c.3639C>T (p.Asn1213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974221G>C | CA384533676 | COL2A1 | c.3978C>G (p.Asn1326Lys) c.4185C>G (p.Asn1395Lys) n.3271C>G c.4329C>G (p.Asn1443Lys) c.4326C>G (p.Asn1442Lys) c.3273C>G (p.Asn1091Lys) c.4119C>G (p.Asn1373Lys) c.3639C>G (p.Asn1213Lys) | |
| 12 | g.47974221G= | CA2034471754 | COL2A1 | c.3978C= (p.Asn1326=) c.4185C= (p.Asn1395=) n.3271C= c.4329C= (p.Asn1443=) c.4326C= (p.Asn1442=) c.3273C= (p.Asn1091=) c.4119C= (p.Asn1373=) c.3639C= (p.Asn1213=) | |
| 12 | g.47974221G>T | CA384533677 | COL2A1 | c.3978C>A (p.Asn1326Lys) c.4185C>A (p.Asn1395Lys) n.3271C>A c.4329C>A (p.Asn1443Lys) c.4326C>A (p.Asn1442Lys) c.3273C>A (p.Asn1091Lys) c.4119C>A (p.Asn1373Lys) c.3639C>A (p.Asn1213Lys) | |
| 12 | g.47974222T>A | CA384533678 | COL2A1 | c.3977A>T (p.Asn1326Ile) c.4184A>T (p.Asn1395Ile) n.3270A>T c.4328A>T (p.Asn1443Ile) c.4325A>T (p.Asn1442Ile) c.3272A>T (p.Asn1091Ile) c.4118A>T (p.Asn1373Ile) c.3638A>T (p.Asn1213Ile) | |
| 12 | g.47974222T>C | CA384533680 | COL2A1 | c.3977A>G (p.Asn1326Ser) c.4184A>G (p.Asn1395Ser) n.3270A>G c.4328A>G (p.Asn1443Ser) c.4325A>G (p.Asn1442Ser) c.3272A>G (p.Asn1091Ser) c.4118A>G (p.Asn1373Ser) c.3638A>G (p.Asn1213Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974222T>G | CA384533679 | COL2A1 | c.3977A>C (p.Asn1326Thr) c.4184A>C (p.Asn1395Thr) n.3270A>C c.4328A>C (p.Asn1443Thr) c.4325A>C (p.Asn1442Thr) c.3272A>C (p.Asn1091Thr) c.4118A>C (p.Asn1373Thr) c.3638A>C (p.Asn1213Thr) | |
| 12 | g.47974222T= | CA2034471762 | COL2A1 | c.3977A= (p.Asn1326=) c.4184A= (p.Asn1395=) n.3270A= c.4328A= (p.Asn1443=) c.4325A= (p.Asn1442=) c.3272A= (p.Asn1091=) c.4118A= (p.Asn1373=) c.3638A= (p.Asn1213=) | |
| 12 | g.47974223T>A | CA384533681 | COL2A1 | c.3976A>T (p.Asn1326Tyr) c.4183A>T (p.Asn1395Tyr) n.3269A>T c.4327A>T (p.Asn1443Tyr) c.4324A>T (p.Asn1442Tyr) c.3271A>T (p.Asn1091Tyr) c.4117A>T (p.Asn1373Tyr) c.3637A>T (p.Asn1213Tyr) | |
| 12 | g.47974223T>C | CA384533682 | COL2A1 | c.3976A>G (p.Asn1326Asp) c.4183A>G (p.Asn1395Asp) n.3269A>G c.4327A>G (p.Asn1443Asp) c.4324A>G (p.Asn1442Asp) c.3271A>G (p.Asn1091Asp) c.4117A>G (p.Asn1373Asp) c.3637A>G (p.Asn1213Asp) | |
| 12 | g.47974223T>G | CA384533683 | COL2A1 | c.3976A>C (p.Asn1326His) c.4183A>C (p.Asn1395His) n.3269A>C c.4327A>C (p.Asn1443His) c.4324A>C (p.Asn1442His) c.3271A>C (p.Asn1091His) c.4117A>C (p.Asn1373His) c.3637A>C (p.Asn1213His) | |
| 12 | g.47974224C>A | CA384533684 | COL2A1 | c.3975G>T (p.Lys1325Asn) c.4182G>T (p.Lys1394Asn) n.3268G>T c.4326G>T (p.Lys1442Asn) c.4323G>T (p.Lys1441Asn) c.3270G>T (p.Lys1090Asn) c.4116G>T (p.Lys1372Asn) c.3636G>T (p.Lys1212Asn) | |
| 12 | g.47974224C= | CA2034471769 | COL2A1 | c.3975G= (p.Lys1325=) c.4182G= (p.Lys1394=) n.3268G= c.4326G= (p.Lys1442=) c.4323G= (p.Lys1441=) c.3270G= (p.Lys1090=) c.4116G= (p.Lys1372=) c.3636G= (p.Lys1212=) | |
| 12 | g.47974224C>G | CA384533685 | COL2A1 | c.3975G>C (p.Lys1325Asn) c.4182G>C (p.Lys1394Asn) n.3268G>C c.4326G>C (p.Lys1442Asn) c.4323G>C (p.Lys1441Asn) c.3270G>C (p.Lys1090Asn) c.4116G>C (p.Lys1372Asn) c.3636G>C (p.Lys1212Asn) | |
| 12 | g.47974224C>T | CA479450205 | COL2A1 | c.3975G>A (p.Lys1325=) c.4182G>A (p.Lys1394=) n.3268G>A c.4326G>A (p.Lys1442=) c.4323G>A (p.Lys1441=) c.3270G>A (p.Lys1090=) c.4116G>A (p.Lys1372=) c.3636G>A (p.Lys1212=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974225T>A | CA384533686 | COL2A1 | c.3974A>T (p.Lys1325Met) c.4181A>T (p.Lys1394Met) n.3267A>T c.4325A>T (p.Lys1442Met) c.4322A>T (p.Lys1441Met) c.3269A>T (p.Lys1090Met) c.4115A>T (p.Lys1372Met) c.3635A>T (p.Lys1212Met) | |
| 12 | g.47974225T>C | CA384533687 | COL2A1 | c.3974A>G (p.Lys1325Arg) c.4181A>G (p.Lys1394Arg) n.3267A>G c.4325A>G (p.Lys1442Arg) c.4322A>G (p.Lys1441Arg) c.3269A>G (p.Lys1090Arg) c.4115A>G (p.Lys1372Arg) c.3635A>G (p.Lys1212Arg) | |
| 12 | g.47974225T>G | CA384533688 | COL2A1 | c.3974A>C (p.Lys1325Thr) c.4181A>C (p.Lys1394Thr) n.3267A>C c.4325A>C (p.Lys1442Thr) c.4322A>C (p.Lys1441Thr) c.3269A>C (p.Lys1090Thr) c.4115A>C (p.Lys1372Thr) c.3635A>C (p.Lys1212Thr) | |
| 12 | g.47974226T>A | CA384533689 | COL2A1 | c.3973A>T (p.Lys1325Ter) c.4180A>T (p.Lys1394Ter) n.3266A>T c.4324A>T (p.Lys1442Ter) c.4321A>T (p.Lys1441Ter) c.3268A>T (p.Lys1090Ter) c.4114A>T (p.Lys1372Ter) c.3634A>T (p.Lys1212Ter) | |
| 12 | g.47974226T>C | CA236516043 | COL2A1 | c.3973A>G (p.Lys1325Glu) c.4180A>G (p.Lys1394Glu) n.3266A>G c.4324A>G (p.Lys1442Glu) c.4321A>G (p.Lys1441Glu) c.3268A>G (p.Lys1090Glu) c.4114A>G (p.Lys1372Glu) c.3634A>G (p.Lys1212Glu) | dbSNP |
| 12 | g.47974226T>G | CA384533690 | COL2A1 | c.3973A>C (p.Lys1325Gln) c.4180A>C (p.Lys1394Gln) n.3266A>C c.4324A>C (p.Lys1442Gln) c.4321A>C (p.Lys1441Gln) c.3268A>C (p.Lys1090Gln) c.4114A>C (p.Lys1372Gln) c.3634A>C (p.Lys1212Gln) | |
| 12 | g.47974226T= | CA2034471772 | COL2A1 | c.3973A= (p.Lys1325=) c.4180A= (p.Lys1394=) n.3266A= c.4324A= (p.Lys1442=) c.4321A= (p.Lys1441=) c.3268A= (p.Lys1090=) c.4114A= (p.Lys1372=) c.3634A= (p.Lys1212=) | |
| 12 | g.47974227G>A | CA479450206 | COL2A1 | c.3972C>T (p.Cys1324=) c.4179C>T (p.Cys1393=) n.3265C>T c.4323C>T (p.Cys1441=) c.4320C>T (p.Cys1440=) c.3267C>T (p.Cys1089=) c.4113C>T (p.Cys1371=) c.3633C>T (p.Cys1211=) | |
| 12 | g.47974227G>C | CA384533692 | COL2A1 | c.3972C>G (p.Cys1324Trp) c.4179C>G (p.Cys1393Trp) n.3265C>G c.4323C>G (p.Cys1441Trp) c.4320C>G (p.Cys1440Trp) c.3267C>G (p.Cys1089Trp) c.4113C>G (p.Cys1371Trp) c.3633C>G (p.Cys1211Trp) | |
| 12 | g.47974227G>T | CA384533691 | COL2A1 | c.3972C>A (p.Cys1324Ter) c.4179C>A (p.Cys1393Ter) n.3265C>A c.4323C>A (p.Cys1441Ter) c.4320C>A (p.Cys1440Ter) c.3267C>A (p.Cys1089Ter) c.4113C>A (p.Cys1371Ter) c.3633C>A (p.Cys1211Ter) | |
| 12 | g.47974228C>A | CA384533693 | COL2A1 | c.3971G>T (p.Cys1324Phe) c.4178G>T (p.Cys1393Phe) n.3264G>T c.4322G>T (p.Cys1441Phe) c.4319G>T (p.Cys1440Phe) c.3266G>T (p.Cys1089Phe) c.4112G>T (p.Cys1371Phe) c.3632G>T (p.Cys1211Phe) | |
| 12 | g.47974228C>G | CA384533694 | COL2A1 | c.3971G>C (p.Cys1324Ser) c.4178G>C (p.Cys1393Ser) n.3264G>C c.4322G>C (p.Cys1441Ser) c.4319G>C (p.Cys1440Ser) c.3266G>C (p.Cys1089Ser) c.4112G>C (p.Cys1371Ser) c.3632G>C (p.Cys1211Ser) | |
| 12 | g.47974228C>T | CA384533695 | COL2A1 | c.3971G>A (p.Cys1324Tyr) c.4178G>A (p.Cys1393Tyr) n.3264G>A c.4322G>A (p.Cys1441Tyr) c.4319G>A (p.Cys1440Tyr) c.3266G>A (p.Cys1089Tyr) c.4112G>A (p.Cys1371Tyr) c.3632G>A (p.Cys1211Tyr) | dbSNP |
| 12 | g.47974229A>C | CA384533696 | COL2A1 | c.3970T>G (p.Cys1324Gly) c.4177T>G (p.Cys1393Gly) n.3263T>G c.4321T>G (p.Cys1441Gly) c.4318T>G (p.Cys1440Gly) c.3265T>G (p.Cys1089Gly) c.4111T>G (p.Cys1371Gly) c.3631T>G (p.Cys1211Gly) | ClinVar dbSNP |
| 12 | g.47974229A>G | CA384533697 | COL2A1 | c.3970T>C (p.Cys1324Arg) c.4177T>C (p.Cys1393Arg) n.3263T>C c.4321T>C (p.Cys1441Arg) c.4318T>C (p.Cys1440Arg) c.3265T>C (p.Cys1089Arg) c.4111T>C (p.Cys1371Arg) c.3631T>C (p.Cys1211Arg) | |
| 12 | g.47974229A>T | CA384533698 | COL2A1 | c.3970T>A (p.Cys1324Ser) c.4177T>A (p.Cys1393Ser) n.3263T>A c.4321T>A (p.Cys1441Ser) c.4318T>A (p.Cys1440Ser) c.3265T>A (p.Cys1089Ser) c.4111T>A (p.Cys1371Ser) c.3631T>A (p.Cys1211Ser) | |
| 12 | g.47974230G>A | CA479450207 | COL2A1 | c.3969C>T (p.His1323=) c.4176C>T (p.His1392=) n.3262C>T c.4320C>T (p.His1440=) c.4317C>T (p.His1439=) c.3264C>T (p.His1088=) c.4110C>T (p.His1370=) c.3630C>T (p.His1210=) | |
| 12 | g.47974230G>C | CA384533699 | COL2A1 | c.3969C>G (p.His1323Gln) c.4176C>G (p.His1392Gln) n.3262C>G c.4320C>G (p.His1440Gln) c.4317C>G (p.His1439Gln) c.3264C>G (p.His1088Gln) c.4110C>G (p.His1370Gln) c.3630C>G (p.His1210Gln) | |
| 12 | g.47974230G>T | CA384533700 | COL2A1 | c.3969C>A (p.His1323Gln) c.4176C>A (p.His1392Gln) n.3262C>A c.4320C>A (p.His1440Gln) c.4317C>A (p.His1439Gln) c.3264C>A (p.His1088Gln) c.4110C>A (p.His1370Gln) c.3630C>A (p.His1210Gln) | |
| 12 | g.47974231_47974232dup | CA2697559172 | COL2A1 | c.3968_3969dup (p.Cys1324ThrfsTer?) c.4175_4176dup (p.Cys1393ThrfsTer?) n.3261_3262dup c.4319_4320dup (p.Cys1441ThrfsTer?) c.4316_4317dup (p.Cys1440ThrfsTer?) c.3263_3264dup (p.Cys1089ThrfsTer?) c.4109_4110dup (p.Cys1371ThrfsTer?) c.3629_3630dup (p.Cys1211ThrfsTer?) | ClinVar |
| 12 | g.47974231T>A | CA384533701 | COL2A1 | c.3968A>T (p.His1323Leu) c.4175A>T (p.His1392Leu) n.3261A>T c.4319A>T (p.His1440Leu) c.4316A>T (p.His1439Leu) c.3263A>T (p.His1088Leu) c.4109A>T (p.His1370Leu) c.3629A>T (p.His1210Leu) | |
| 12 | g.47974231T>C | CA384533702 | COL2A1 | c.3968A>G (p.His1323Arg) c.4175A>G (p.His1392Arg) n.3261A>G c.4319A>G (p.His1440Arg) c.4316A>G (p.His1439Arg) c.3263A>G (p.His1088Arg) c.4109A>G (p.His1370Arg) c.3629A>G (p.His1210Arg) | |
| 12 | g.47974231T>G | CA384533703 | COL2A1 | c.3968A>C (p.His1323Pro) c.4175A>C (p.His1392Pro) n.3261A>C c.4319A>C (p.His1440Pro) c.4316A>C (p.His1439Pro) c.3263A>C (p.His1088Pro) c.4109A>C (p.His1370Pro) c.3629A>C (p.His1210Pro) | |
| 12 | g.47974232G>A | CA384533705 | COL2A1 | c.3967C>T (p.His1323Tyr) c.4174C>T (p.His1392Tyr) n.3260C>T c.4318C>T (p.His1440Tyr) c.4315C>T (p.His1439Tyr) c.3262C>T (p.His1088Tyr) c.4108C>T (p.His1370Tyr) c.3628C>T (p.His1210Tyr) | |
| 12 | g.47974232G>C | CA384533706 | COL2A1 | c.3967C>G (p.His1323Asp) c.4174C>G (p.His1392Asp) n.3260C>G c.4318C>G (p.His1440Asp) c.4315C>G (p.His1439Asp) c.3262C>G (p.His1088Asp) c.4108C>G (p.His1370Asp) c.3628C>G (p.His1210Asp) | |
| 12 | g.47974232G>T | CA384533704 | COL2A1 | c.3967C>A (p.His1323Asn) c.4174C>A (p.His1392Asn) n.3260C>A c.4318C>A (p.His1440Asn) c.4315C>A (p.His1439Asn) c.3262C>A (p.His1088Asn) c.4108C>A (p.His1370Asn) c.3628C>A (p.His1210Asn) | |
| 12 | g.47974233G>A | CA479450208 | COL2A1 | c.3966C>T (p.Tyr1322=) c.4173C>T (p.Tyr1391=) n.3259C>T c.4317C>T (p.Tyr1439=) c.4314C>T (p.Tyr1438=) c.3261C>T (p.Tyr1087=) c.4107C>T (p.Tyr1369=) c.3627C>T (p.Tyr1209=) | dbSNP |
| 12 | g.47974233G>C | CA384533707 | COL2A1 | c.3966C>G (p.Tyr1322Ter) c.4173C>G (p.Tyr1391Ter) n.3259C>G c.4317C>G (p.Tyr1439Ter) c.4314C>G (p.Tyr1438Ter) c.3261C>G (p.Tyr1087Ter) c.4107C>G (p.Tyr1369Ter) c.3627C>G (p.Tyr1209Ter) | |
| 12 | g.47974233G= | CA2034471775 | COL2A1 | c.3966C= (p.Tyr1322=) c.4173C= (p.Tyr1391=) n.3259C= c.4317C= (p.Tyr1439=) c.4314C= (p.Tyr1438=) c.3261C= (p.Tyr1087=) c.4107C= (p.Tyr1369=) c.3627C= (p.Tyr1209=) | |
| 12 | g.47974233G>T | CA384533708 | COL2A1 | c.3966C>A (p.Tyr1322Ter) c.4173C>A (p.Tyr1391Ter) n.3259C>A c.4317C>A (p.Tyr1439Ter) c.4314C>A (p.Tyr1438Ter) c.3261C>A (p.Tyr1087Ter) c.4107C>A (p.Tyr1369Ter) c.3627C>A (p.Tyr1209Ter) | |
| 12 | g.47974234T>A | CA384533709 | COL2A1 | c.3965A>T (p.Tyr1322Phe) c.4172A>T (p.Tyr1391Phe) n.3258A>T c.4316A>T (p.Tyr1439Phe) c.4313A>T (p.Tyr1438Phe) c.3260A>T (p.Tyr1087Phe) c.4106A>T (p.Tyr1369Phe) c.3626A>T (p.Tyr1209Phe) | |
| 12 | g.47974234T>C | CA127170 | COL2A1 | c.3965A>G (p.Tyr1322Cys) c.4172A>G (p.Tyr1391Cys) n.3258A>G c.4316A>G (p.Tyr1439Cys) c.4313A>G (p.Tyr1438Cys) c.3260A>G (p.Tyr1087Cys) c.4106A>G (p.Tyr1369Cys) c.3626A>G (p.Tyr1209Cys) | ClinVar dbSNP |
| 12 | g.47974234T>G | CA384533710 | COL2A1 | c.3965A>C (p.Tyr1322Ser) c.4172A>C (p.Tyr1391Ser) n.3258A>C c.4316A>C (p.Tyr1439Ser) c.4313A>C (p.Tyr1438Ser) c.3260A>C (p.Tyr1087Ser) c.4106A>C (p.Tyr1369Ser) c.3626A>C (p.Tyr1209Ser) | |
| 12 | g.47974234T= | CA2034471783 | COL2A1 | c.3965A= (p.Tyr1322=) c.4172A= (p.Tyr1391=) n.3258A= c.4316A= (p.Tyr1439=) c.4313A= (p.Tyr1438=) c.3260A= (p.Tyr1087=) c.4106A= (p.Tyr1369=) c.3626A= (p.Tyr1209=) |