| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 12 | g.47974235A>C | CA384533711 | COL2A1 | c.3964T>G (p.Tyr1322Asp) c.4171T>G (p.Tyr1391Asp) n.3257T>G c.4315T>G (p.Tyr1439Asp) c.4312T>G (p.Tyr1438Asp) c.3259T>G (p.Tyr1087Asp) c.4105T>G (p.Tyr1369Asp) c.3625T>G (p.Tyr1209Asp) | |
| 12 | g.47974235A>G | CA384533712 | COL2A1 | c.3964T>C (p.Tyr1322His) c.4171T>C (p.Tyr1391His) n.3257T>C c.4315T>C (p.Tyr1439His) c.4312T>C (p.Tyr1438His) c.3259T>C (p.Tyr1087His) c.4105T>C (p.Tyr1369His) c.3625T>C (p.Tyr1209His) | ClinVar dbSNP |
| 12 | g.47974235A>T | CA384533713 | COL2A1 | c.3964T>A (p.Tyr1322Asn) c.4171T>A (p.Tyr1391Asn) n.3257T>A c.4315T>A (p.Tyr1439Asn) c.4312T>A (p.Tyr1438Asn) c.3259T>A (p.Tyr1087Asn) c.4105T>A (p.Tyr1369Asn) c.3625T>A (p.Tyr1209Asn) | |
| 12 | g.47974236G>A | CA236516075 | COL2A1 | c.3963C>T (p.Thr1321=) c.4170C>T (p.Thr1390=) n.3256C>T c.4314C>T (p.Thr1438=) c.4311C>T (p.Thr1437=) c.3258C>T (p.Thr1086=) c.4104C>T (p.Thr1368=) c.3624C>T (p.Thr1208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974236G>C | CA479450209 | COL2A1 | c.3963C>G (p.Thr1321=) c.4170C>G (p.Thr1390=) n.3256C>G c.4314C>G (p.Thr1438=) c.4311C>G (p.Thr1437=) c.3258C>G (p.Thr1086=) c.4104C>G (p.Thr1368=) c.3624C>G (p.Thr1208=) | |
| 12 | g.47974236G= | CA2034471787 | COL2A1 | c.3963C= (p.Thr1321=) c.4170C= (p.Thr1390=) n.3256C= c.4314C= (p.Thr1438=) c.4311C= (p.Thr1437=) c.3258C= (p.Thr1086=) c.4104C= (p.Thr1368=) c.3624C= (p.Thr1208=) | |
| 12 | g.47974236G>T | CA479450210 | COL2A1 | c.3963C>A (p.Thr1321=) c.4170C>A (p.Thr1390=) n.3256C>A c.4314C>A (p.Thr1438=) c.4311C>A (p.Thr1437=) c.3258C>A (p.Thr1086=) c.4104C>A (p.Thr1368=) c.3624C>A (p.Thr1208=) | |
| 12 | g.47974237G>A | CA384533714 | COL2A1 | c.3962C>T (p.Thr1321Ile) c.4169C>T (p.Thr1390Ile) n.3255C>T c.4313C>T (p.Thr1438Ile) c.4310C>T (p.Thr1437Ile) c.3257C>T (p.Thr1086Ile) c.4103C>T (p.Thr1368Ile) c.3623C>T (p.Thr1208Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974237G>C | CA384533715 | COL2A1 | c.3962C>G (p.Thr1321Ser) c.4169C>G (p.Thr1390Ser) n.3255C>G c.4313C>G (p.Thr1438Ser) c.4310C>G (p.Thr1437Ser) c.3257C>G (p.Thr1086Ser) c.4103C>G (p.Thr1368Ser) c.3623C>G (p.Thr1208Ser) | |
| 12 | g.47974237G= | CA2034471792 | COL2A1 | c.3962C= (p.Thr1321=) c.4169C= (p.Thr1390=) n.3255C= c.4313C= (p.Thr1438=) c.4310C= (p.Thr1437=) c.3257C= (p.Thr1086=) c.4103C= (p.Thr1368=) c.3623C= (p.Thr1208=) | |
| 12 | g.47974237G>T | CA384533716 | COL2A1 | c.3962C>A (p.Thr1321Asn) c.4169C>A (p.Thr1390Asn) n.3255C>A c.4313C>A (p.Thr1438Asn) c.4310C>A (p.Thr1437Asn) c.3257C>A (p.Thr1086Asn) c.4103C>A (p.Thr1368Asn) c.3623C>A (p.Thr1208Asn) | |
| 12 | g.47974237_47974240delinsGTGA | CA2034471790 | COL2A1 | c.3959_3962delinsTCAC (p.Ile1320=) c.4166_4169delinsTCAC (p.Ile1389=) n.3252_3255delinsTCAC c.4310_4313delinsTCAC (p.Ile1437=) c.4307_4310delinsTCAC (p.Ile1436=) c.3254_3257delinsTCAC (p.Ile1085=) c.4100_4103delinsTCAC (p.Ile1367=) c.3620_3623delinsTCAC (p.Ile1207=) | |
| 12 | g.47974238T>A | CA384533718 | COL2A1 | c.3961A>T (p.Thr1321Ser) c.4168A>T (p.Thr1390Ser) n.3254A>T c.4312A>T (p.Thr1438Ser) c.4309A>T (p.Thr1437Ser) c.3256A>T (p.Thr1086Ser) c.4102A>T (p.Thr1368Ser) c.3622A>T (p.Thr1208Ser) | |
| 12 | g.47974238T>C | CA384533719 | COL2A1 | c.3961A>G (p.Thr1321Ala) c.4168A>G (p.Thr1390Ala) n.3254A>G c.4312A>G (p.Thr1438Ala) c.4309A>G (p.Thr1437Ala) c.3256A>G (p.Thr1086Ala) c.4102A>G (p.Thr1368Ala) c.3622A>G (p.Thr1208Ala) | |
| 12 | g.47974238T>G | CA384533717 | COL2A1 | c.3961A>C (p.Thr1321Pro) c.4168A>C (p.Thr1390Pro) n.3254A>C c.4312A>C (p.Thr1438Pro) c.4309A>C (p.Thr1437Pro) c.3256A>C (p.Thr1086Pro) c.4102A>C (p.Thr1368Pro) c.3622A>C (p.Thr1208Pro) | dbSNP |
| 12 | g.47974238T= | CA2034471799 | COL2A1 | c.3961A= (p.Thr1321=) c.4168A= (p.Thr1390=) n.3254A= c.4312A= (p.Thr1438=) c.4309A= (p.Thr1437=) c.3256A= (p.Thr1086=) c.4102A= (p.Thr1368=) c.3622A= (p.Thr1208=) | |
| 12 | g.47974240_47974242del | CA16619524 | COL2A1 | c.3959_3961del (p.Ile1320del) c.4166_4168del (p.Ile1389del) n.3252_3254del c.4310_4312del (p.Ile1437del) c.4307_4309del (p.Ile1436del) c.3254_3256del (p.Ile1085del) c.4100_4102del (p.Ile1367del) c.3620_3622del (p.Ile1207del) | ClinVar dbSNP |
| 12 | g.47974239del | CA645509035 | COL2A1 | c.3960del (p.Thr1321ProfsTer?) c.4167del (p.Thr1390ProfsTer?) n.3253del c.4311del (p.Thr1438ProfsTer?) c.4308del (p.Thr1437ProfsTer?) c.3255del (p.Thr1086ProfsTer?) c.4101del (p.Thr1368ProfsTer?) c.3621del (p.Thr1208ProfsTer?) | |
| 12 | g.47974239G>A | CA479450212 | COL2A1 | c.3960C>T (p.Ile1320=) c.4167C>T (p.Ile1389=) n.3253C>T c.4311C>T (p.Ile1437=) c.4308C>T (p.Ile1436=) c.3255C>T (p.Ile1085=) c.4101C>T (p.Ile1367=) c.3621C>T (p.Ile1207=) | |
| 12 | g.47974239G>C | CA384533720 | COL2A1 | c.3960C>G (p.Ile1320Met) c.4167C>G (p.Ile1389Met) n.3253C>G c.4311C>G (p.Ile1437Met) c.4308C>G (p.Ile1436Met) c.3255C>G (p.Ile1085Met) c.4101C>G (p.Ile1367Met) c.3621C>G (p.Ile1207Met) | |
| 12 | g.47974239G>T | CA479450211 | COL2A1 | c.3960C>A (p.Ile1320=) c.4167C>A (p.Ile1389=) n.3253C>A c.4311C>A (p.Ile1437=) c.4308C>A (p.Ile1436=) c.3255C>A (p.Ile1085=) c.4101C>A (p.Ile1367=) c.3621C>A (p.Ile1207=) | |
| 12 | g.47974240A= | CA2034471803 | COL2A1 | c.3959T= (p.Ile1320=) c.4166T= (p.Ile1389=) n.3252T= c.4310T= (p.Ile1437=) c.4307T= (p.Ile1436=) c.3254T= (p.Ile1085=) c.4100T= (p.Ile1367=) c.3620T= (p.Ile1207=) | |
| 12 | g.47974240A>C | CA384533721 | COL2A1 | c.3959T>G (p.Ile1320Ser) c.4166T>G (p.Ile1389Ser) n.3252T>G c.4310T>G (p.Ile1437Ser) c.4307T>G (p.Ile1436Ser) c.3254T>G (p.Ile1085Ser) c.4100T>G (p.Ile1367Ser) c.3620T>G (p.Ile1207Ser) | |
| 12 | g.47974240A>G | CA384533722 | COL2A1 | c.3959T>C (p.Ile1320Thr) c.4166T>C (p.Ile1389Thr) n.3252T>C c.4310T>C (p.Ile1437Thr) c.4307T>C (p.Ile1436Thr) c.3254T>C (p.Ile1085Thr) c.4100T>C (p.Ile1367Thr) c.3620T>C (p.Ile1207Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47974240A>T | CA384533723 | COL2A1 | c.3959T>A (p.Ile1320Asn) c.4166T>A (p.Ile1389Asn) n.3252T>A c.4310T>A (p.Ile1437Asn) c.4307T>A (p.Ile1436Asn) c.3254T>A (p.Ile1085Asn) c.4100T>A (p.Ile1367Asn) c.3620T>A (p.Ile1207Asn) | |
| 12 | g.47974241T>A | CA384533726 | COL2A1 | c.3958A>T (p.Ile1320Phe) c.4165A>T (p.Ile1389Phe) n.3251A>T c.4309A>T (p.Ile1437Phe) c.4306A>T (p.Ile1436Phe) c.3253A>T (p.Ile1085Phe) c.4099A>T (p.Ile1367Phe) c.3619A>T (p.Ile1207Phe) | |
| 12 | g.47974241T>C | CA384533725 | COL2A1 | c.3958A>G (p.Ile1320Val) c.4165A>G (p.Ile1389Val) n.3251A>G c.4309A>G (p.Ile1437Val) c.4306A>G (p.Ile1436Val) c.3253A>G (p.Ile1085Val) c.4099A>G (p.Ile1367Val) c.3619A>G (p.Ile1207Val) | dbSNP gnomAD v4 |
| 12 | g.47974241T>G | CA384533724 | COL2A1 | c.3958A>C (p.Ile1320Leu) c.4165A>C (p.Ile1389Leu) n.3251A>C c.4309A>C (p.Ile1437Leu) c.4306A>C (p.Ile1436Leu) c.3253A>C (p.Ile1085Leu) c.4099A>C (p.Ile1367Leu) c.3619A>C (p.Ile1207Leu) | |
| 12 | g.47974241T= | CA2034471807 | COL2A1 | c.3958A= (p.Ile1320=) c.4165A= (p.Ile1389=) n.3251A= c.4309A= (p.Ile1437=) c.4306A= (p.Ile1436=) c.3253A= (p.Ile1085=) c.4099A= (p.Ile1367=) c.3619A= (p.Ile1207=) | |
| 12 | g.47974243_47974247del | CA2695216611 | COL2A1 | c.3954_3958del (p.Gln1318HisfsTer30) c.4161_4165del (p.Gln1387HisfsTer30) n.3247_3251del c.4305_4309del (p.Gln1435HisfsTer30) c.4302_4306del (p.Gln1434HisfsTer30) c.3249_3253del (p.Gln1083HisfsTer30) c.4095_4099del (p.Gln1365HisfsTer30) c.3615_3619del (p.Gln1205HisfsTer30) | |
| 12 | g.47974242G>A | CA6534522 | COL2A1 | c.3957C>T (p.Asn1319=) c.4164C>T (p.Asn1388=) n.3250C>T c.4308C>T (p.Asn1436=) c.4305C>T (p.Asn1435=) c.3252C>T (p.Asn1084=) c.4098C>T (p.Asn1366=) c.3618C>T (p.Asn1206=) | dbSNP ExAC gnomAD v2 |
| 12 | g.47974242G>C | CA384533727 | COL2A1 | c.3957C>G (p.Asn1319Lys) c.4164C>G (p.Asn1388Lys) n.3250C>G c.4308C>G (p.Asn1436Lys) c.4305C>G (p.Asn1435Lys) c.3252C>G (p.Asn1084Lys) c.4098C>G (p.Asn1366Lys) c.3618C>G (p.Asn1206Lys) | gnomAD v4 |
| 12 | g.47974242G= | CA2034471811 | COL2A1 | c.3957C= (p.Asn1319=) c.4164C= (p.Asn1388=) n.3250C= c.4308C= (p.Asn1436=) c.4305C= (p.Asn1435=) c.3252C= (p.Asn1084=) c.4098C= (p.Asn1366=) c.3618C= (p.Asn1206=) | |
| 12 | g.47974242G>T | CA384533728 | COL2A1 | c.3957C>A (p.Asn1319Lys) c.4164C>A (p.Asn1388Lys) n.3250C>A c.4308C>A (p.Asn1436Lys) c.4305C>A (p.Asn1435Lys) c.3252C>A (p.Asn1084Lys) c.4098C>A (p.Asn1366Lys) c.3618C>A (p.Asn1206Lys) | |
| 12 | g.47974243T>A | CA384533729 | COL2A1 | c.3956A>T (p.Asn1319Ile) c.4163A>T (p.Asn1388Ile) n.3249A>T c.4307A>T (p.Asn1436Ile) c.4304A>T (p.Asn1435Ile) c.3251A>T (p.Asn1084Ile) c.4097A>T (p.Asn1366Ile) c.3617A>T (p.Asn1206Ile) | gnomAD v4 |
| 12 | g.47974243T>C | CA384533730 | COL2A1 | c.3956A>G (p.Asn1319Ser) c.4163A>G (p.Asn1388Ser) n.3249A>G c.4307A>G (p.Asn1436Ser) c.4304A>G (p.Asn1435Ser) c.3251A>G (p.Asn1084Ser) c.4097A>G (p.Asn1366Ser) c.3617A>G (p.Asn1206Ser) | |
| 12 | g.47974243T>G | CA384533731 | COL2A1 | c.3956A>C (p.Asn1319Thr) c.4163A>C (p.Asn1388Thr) n.3249A>C c.4307A>C (p.Asn1436Thr) c.4304A>C (p.Asn1435Thr) c.3251A>C (p.Asn1084Thr) c.4097A>C (p.Asn1366Thr) c.3617A>C (p.Asn1206Thr) | |
| 12 | g.47974244T>A | CA384533734 | COL2A1 | c.3955A>T (p.Asn1319Tyr) c.4162A>T (p.Asn1388Tyr) n.3248A>T c.4306A>T (p.Asn1436Tyr) c.4303A>T (p.Asn1435Tyr) c.3250A>T (p.Asn1084Tyr) c.4096A>T (p.Asn1366Tyr) c.3616A>T (p.Asn1206Tyr) | |
| 12 | g.47974244T>C | CA384533733 | COL2A1 | c.3955A>G (p.Asn1319Asp) c.4162A>G (p.Asn1388Asp) n.3248A>G c.4306A>G (p.Asn1436Asp) c.4303A>G (p.Asn1435Asp) c.3250A>G (p.Asn1084Asp) c.4096A>G (p.Asn1366Asp) c.3616A>G (p.Asn1206Asp) | |
| 12 | g.47974244T>G | CA384533732 | COL2A1 | c.3955A>C (p.Asn1319His) c.4162A>C (p.Asn1388His) n.3248A>C c.4306A>C (p.Asn1436His) c.4303A>C (p.Asn1435His) c.3250A>C (p.Asn1084His) c.4096A>C (p.Asn1366His) c.3616A>C (p.Asn1206His) | |
| 12 | g.47974245C>A | CA384533735 | COL2A1 | c.3954G>T (p.Gln1318His) c.4161G>T (p.Gln1387His) n.3247G>T c.4305G>T (p.Gln1435His) c.4302G>T (p.Gln1434His) c.3249G>T (p.Gln1083His) c.4095G>T (p.Gln1365His) c.3615G>T (p.Gln1205His) | |
| 12 | g.47974245C>G | CA384533736 | COL2A1 | c.3954G>C (p.Gln1318His) c.4161G>C (p.Gln1387His) n.3247G>C c.4305G>C (p.Gln1435His) c.4302G>C (p.Gln1434His) c.3249G>C (p.Gln1083His) c.4095G>C (p.Gln1365His) c.3615G>C (p.Gln1205His) | |
| 12 | g.47974245C>T | CA479450213 | COL2A1 | c.3954G>A (p.Gln1318=) c.4161G>A (p.Gln1387=) n.3247G>A c.4305G>A (p.Gln1435=) c.4302G>A (p.Gln1434=) c.3249G>A (p.Gln1083=) c.4095G>A (p.Gln1365=) c.3615G>A (p.Gln1205=) | |
| 12 | g.47974246T>A | CA384533737 | COL2A1 | c.3953A>T (p.Gln1318Leu) c.4160A>T (p.Gln1387Leu) n.3246A>T c.4304A>T (p.Gln1435Leu) c.4301A>T (p.Gln1434Leu) c.3248A>T (p.Gln1083Leu) c.4094A>T (p.Gln1365Leu) c.3614A>T (p.Gln1205Leu) | |
| 12 | g.47974246T>C | CA384533738 | COL2A1 | c.3953A>G (p.Gln1318Arg) c.4160A>G (p.Gln1387Arg) n.3246A>G c.4304A>G (p.Gln1435Arg) c.4301A>G (p.Gln1434Arg) c.3248A>G (p.Gln1083Arg) c.4094A>G (p.Gln1365Arg) c.3614A>G (p.Gln1205Arg) | |
| 12 | g.47974246T>G | CA384533739 | COL2A1 | c.3953A>C (p.Gln1318Pro) c.4160A>C (p.Gln1387Pro) n.3246A>C c.4304A>C (p.Gln1435Pro) c.4301A>C (p.Gln1434Pro) c.3248A>C (p.Gln1083Pro) c.4094A>C (p.Gln1365Pro) c.3614A>C (p.Gln1205Pro) | |
| 12 | g.47974247G>A | CA384533742 | COL2A1 | c.3952C>T (p.Gln1318Ter) c.4159C>T (p.Gln1387Ter) n.3245C>T c.4303C>T (p.Gln1435Ter) c.4300C>T (p.Gln1434Ter) c.3247C>T (p.Gln1083Ter) c.4093C>T (p.Gln1365Ter) c.3613C>T (p.Gln1205Ter) | ClinVar dbSNP |
| 12 | g.47974247G>C | CA384533741 | COL2A1 | c.3952C>G (p.Gln1318Glu) c.4159C>G (p.Gln1387Glu) n.3245C>G c.4303C>G (p.Gln1435Glu) c.4300C>G (p.Gln1434Glu) c.3247C>G (p.Gln1083Glu) c.4093C>G (p.Gln1365Glu) c.3613C>G (p.Gln1205Glu) | |
| 12 | g.47974247G>T | CA384533740 | COL2A1 | c.3952C>A (p.Gln1318Lys) c.4159C>A (p.Gln1387Lys) n.3245C>A c.4303C>A (p.Gln1435Lys) c.4300C>A (p.Gln1434Lys) c.3247C>A (p.Gln1083Lys) c.4093C>A (p.Gln1365Lys) c.3613C>A (p.Gln1205Lys) | |
| 12 | g.47974248G>A | CA479450214 | COL2A1 | c.3951C>T (p.Ser1317=) c.4158C>T (p.Ser1386=) n.3244C>T c.4302C>T (p.Ser1434=) c.4299C>T (p.Ser1433=) c.3246C>T (p.Ser1082=) c.4092C>T (p.Ser1364=) c.3612C>T (p.Ser1204=) | |
| 12 | g.47974248G>C | CA479450215 | COL2A1 | c.3951C>G (p.Ser1317=) c.4158C>G (p.Ser1386=) n.3244C>G c.4302C>G (p.Ser1434=) c.4299C>G (p.Ser1433=) c.3246C>G (p.Ser1082=) c.4092C>G (p.Ser1364=) c.3612C>G (p.Ser1204=) | dbSNP |
| 12 | g.47974248G>T | CA479450216 | COL2A1 | c.3951C>A (p.Ser1317=) c.4158C>A (p.Ser1386=) n.3244C>A c.4302C>A (p.Ser1434=) c.4299C>A (p.Ser1433=) c.3246C>A (p.Ser1082=) c.4092C>A (p.Ser1364=) c.3612C>A (p.Ser1204=) | |
| 12 | g.47974249G>A | CA384533743 | COL2A1 | c.3950C>T (p.Ser1317Phe) c.4157C>T (p.Ser1386Phe) n.3243C>T c.4301C>T (p.Ser1434Phe) c.4298C>T (p.Ser1433Phe) c.3245C>T (p.Ser1082Phe) c.4091C>T (p.Ser1364Phe) c.3611C>T (p.Ser1204Phe) | |
| 12 | g.47974249G>C | CA384533744 | COL2A1 | c.3950C>G (p.Ser1317Cys) c.4157C>G (p.Ser1386Cys) n.3243C>G c.4301C>G (p.Ser1434Cys) c.4298C>G (p.Ser1433Cys) c.3245C>G (p.Ser1082Cys) c.4091C>G (p.Ser1364Cys) c.3611C>G (p.Ser1204Cys) | |
| 12 | g.47974249G= | CA2034471814 | COL2A1 | c.3950C= (p.Ser1317=) c.4157C= (p.Ser1386=) n.3243C= c.4301C= (p.Ser1434=) c.4298C= (p.Ser1433=) c.3245C= (p.Ser1082=) c.4091C= (p.Ser1364=) c.3611C= (p.Ser1204=) | |
| 12 | g.47974249G>T | CA384533745 | COL2A1 | c.3950C>A (p.Ser1317Tyr) c.4157C>A (p.Ser1386Tyr) n.3243C>A c.4301C>A (p.Ser1434Tyr) c.4298C>A (p.Ser1433Tyr) c.3245C>A (p.Ser1082Tyr) c.4091C>A (p.Ser1364Tyr) c.3611C>A (p.Ser1204Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974250A>C | CA384533746 | COL2A1 | c.3949T>G (p.Ser1317Ala) c.4156T>G (p.Ser1386Ala) n.3242T>G c.4300T>G (p.Ser1434Ala) c.4297T>G (p.Ser1433Ala) c.3244T>G (p.Ser1082Ala) c.4090T>G (p.Ser1364Ala) c.3610T>G (p.Ser1204Ala) | |
| 12 | g.47974250A>G | CA384533747 | COL2A1 | c.3949T>C (p.Ser1317Pro) c.4156T>C (p.Ser1386Pro) n.3242T>C c.4300T>C (p.Ser1434Pro) c.4297T>C (p.Ser1433Pro) c.3244T>C (p.Ser1082Pro) c.4090T>C (p.Ser1364Pro) c.3610T>C (p.Ser1204Pro) | |
| 12 | g.47974250A>T | CA384533748 | COL2A1 | c.3949T>A (p.Ser1317Thr) c.4156T>A (p.Ser1386Thr) n.3242T>A c.4300T>A (p.Ser1434Thr) c.4297T>A (p.Ser1433Thr) c.3244T>A (p.Ser1082Thr) c.4090T>A (p.Ser1364Thr) c.3610T>A (p.Ser1204Thr) | |
| 12 | g.47974251G>A | CA479450217 | COL2A1 | c.3948C>T (p.Gly1316=) c.4155C>T (p.Gly1385=) n.3241C>T c.4299C>T (p.Gly1433=) c.4296C>T (p.Gly1432=) c.3243C>T (p.Gly1081=) c.4089C>T (p.Gly1363=) c.3609C>T (p.Gly1203=) | |
| 12 | g.47974251G>C | CA479450218 | COL2A1 | c.3948C>G (p.Gly1316=) c.4155C>G (p.Gly1385=) n.3241C>G c.4299C>G (p.Gly1433=) c.4296C>G (p.Gly1432=) c.3243C>G (p.Gly1081=) c.4089C>G (p.Gly1363=) c.3609C>G (p.Gly1203=) | |
| 12 | g.47974251G>T | CA479450219 | COL2A1 | c.3948C>A (p.Gly1316=) c.4155C>A (p.Gly1385=) n.3241C>A c.4299C>A (p.Gly1433=) c.4296C>A (p.Gly1432=) c.3243C>A (p.Gly1081=) c.4089C>A (p.Gly1363=) c.3609C>A (p.Gly1203=) | |
| 12 | g.47974252C>A | CA384533750 | COL2A1 | c.3947G>T (p.Gly1316Val) c.4154G>T (p.Gly1385Val) n.3240G>T c.4298G>T (p.Gly1433Val) c.4295G>T (p.Gly1432Val) c.3242G>T (p.Gly1081Val) c.4088G>T (p.Gly1363Val) c.3608G>T (p.Gly1203Val) | |
| 12 | g.47974252C= | CA2034471819 | COL2A1 | c.3947G= (p.Gly1316=) c.4154G= (p.Gly1385=) n.3240G= c.4298G= (p.Gly1433=) c.4295G= (p.Gly1432=) c.3242G= (p.Gly1081=) c.4088G= (p.Gly1363=) c.3608G= (p.Gly1203=) | |
| 12 | g.47974252C>G | CA6534523 | COL2A1 | c.3947G>C (p.Gly1316Ala) c.4154G>C (p.Gly1385Ala) n.3240G>C c.4298G>C (p.Gly1433Ala) c.4295G>C (p.Gly1432Ala) c.3242G>C (p.Gly1081Ala) c.4088G>C (p.Gly1363Ala) c.3608G>C (p.Gly1203Ala) | dbSNP ExAC gnomAD v4 |
| 12 | g.47974252C>T | CA384533749 | COL2A1 | c.3947G>A (p.Gly1316Asp) c.4154G>A (p.Gly1385Asp) n.3240G>A c.4298G>A (p.Gly1433Asp) c.4295G>A (p.Gly1432Asp) c.3242G>A (p.Gly1081Asp) c.4088G>A (p.Gly1363Asp) c.3608G>A (p.Gly1203Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974253C>A | CA384533751 | COL2A1 | c.3946G>T (p.Gly1316Cys) c.4153G>T (p.Gly1385Cys) n.3239G>T c.4297G>T (p.Gly1433Cys) c.4294G>T (p.Gly1432Cys) c.3241G>T (p.Gly1081Cys) c.4087G>T (p.Gly1363Cys) c.3607G>T (p.Gly1203Cys) | |
| 12 | g.47974253C>G | CA384533752 | COL2A1 | c.3946G>C (p.Gly1316Arg) c.4153G>C (p.Gly1385Arg) n.3239G>C c.4297G>C (p.Gly1433Arg) c.4294G>C (p.Gly1432Arg) c.3241G>C (p.Gly1081Arg) c.4087G>C (p.Gly1363Arg) c.3607G>C (p.Gly1203Arg) | |
| 12 | g.47974253C>T | CA384533753 | COL2A1 | c.3946G>A (p.Gly1316Ser) c.4153G>A (p.Gly1385Ser) n.3239G>A c.4297G>A (p.Gly1433Ser) c.4294G>A (p.Gly1432Ser) c.3241G>A (p.Gly1081Ser) c.4087G>A (p.Gly1363Ser) c.3607G>A (p.Gly1203Ser) | |
| 12 | g.47974254T>A | CA384533754 | COL2A1 | c.3945A>T (p.Glu1315Asp) c.4152A>T (p.Glu1384Asp) n.3238A>T c.4296A>T (p.Glu1432Asp) c.4293A>T (p.Glu1431Asp) c.3240A>T (p.Glu1080Asp) c.4086A>T (p.Glu1362Asp) c.3606A>T (p.Glu1202Asp) | |
| 12 | g.47974254T>C | CA479450220 | COL2A1 | c.3945A>G (p.Glu1315=) c.4152A>G (p.Glu1384=) n.3238A>G c.4296A>G (p.Glu1432=) c.4293A>G (p.Glu1431=) c.3240A>G (p.Glu1080=) c.4086A>G (p.Glu1362=) c.3606A>G (p.Glu1202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974254T>G | CA384533755 | COL2A1 | c.3945A>C (p.Glu1315Asp) c.4152A>C (p.Glu1384Asp) n.3238A>C c.4296A>C (p.Glu1432Asp) c.4293A>C (p.Glu1431Asp) c.3240A>C (p.Glu1080Asp) c.4086A>C (p.Glu1362Asp) c.3606A>C (p.Glu1202Asp) | |
| 12 | g.47974254T= | CA2034471824 | COL2A1 | c.3945A= (p.Glu1315=) c.4152A= (p.Glu1384=) n.3238A= c.4296A= (p.Glu1432=) c.4293A= (p.Glu1431=) c.3240A= (p.Glu1080=) c.4086A= (p.Glu1362=) c.3606A= (p.Glu1202=) | |
| 12 | g.47974255del | CA2695216612 | COL2A1 | c.3945del (p.Gly1316AlafsTer?) c.4152del (p.Gly1385AlafsTer?) n.3238del c.4296del (p.Gly1433AlafsTer?) c.4293del (p.Gly1432AlafsTer?) c.3240del (p.Gly1081AlafsTer?) c.4086del (p.Gly1363AlafsTer?) c.3606del (p.Gly1203AlafsTer?) | |
| 12 | g.47974255T>A | CA384533756 | COL2A1 | c.3944A>T (p.Glu1315Val) c.4151A>T (p.Glu1384Val) n.3237A>T c.4295A>T (p.Glu1432Val) c.4292A>T (p.Glu1431Val) c.3239A>T (p.Glu1080Val) c.4085A>T (p.Glu1362Val) c.3605A>T (p.Glu1202Val) | |
| 12 | g.47974255T>C | CA384533757 | COL2A1 | c.3944A>G (p.Glu1315Gly) c.4151A>G (p.Glu1384Gly) n.3237A>G c.4295A>G (p.Glu1432Gly) c.4292A>G (p.Glu1431Gly) c.3239A>G (p.Glu1080Gly) c.4085A>G (p.Glu1362Gly) c.3605A>G (p.Glu1202Gly) | |
| 12 | g.47974255T>G | CA384533758 | COL2A1 | c.3944A>C (p.Glu1315Ala) c.4151A>C (p.Glu1384Ala) n.3237A>C c.4295A>C (p.Glu1432Ala) c.4292A>C (p.Glu1431Ala) c.3239A>C (p.Glu1080Ala) c.4085A>C (p.Glu1362Ala) c.3605A>C (p.Glu1202Ala) | |
| 12 | g.47974256C>A | CA384533759 | COL2A1 | c.3943G>T (p.Glu1315Ter) c.4150G>T (p.Glu1384Ter) n.3236G>T c.4294G>T (p.Glu1432Ter) c.4291G>T (p.Glu1431Ter) c.3238G>T (p.Glu1080Ter) c.4084G>T (p.Glu1362Ter) c.3604G>T (p.Glu1202Ter) | |
| 12 | g.47974256C= | CA2034471827 | COL2A1 | c.3943G= (p.Glu1315=) c.4150G= (p.Glu1384=) n.3236G= c.4294G= (p.Glu1432=) c.4291G= (p.Glu1431=) c.3238G= (p.Glu1080=) c.4084G= (p.Glu1362=) c.3604G= (p.Glu1202=) | |
| 12 | g.47974256C>G | CA384533760 | COL2A1 | c.3943G>C (p.Glu1315Gln) c.4150G>C (p.Glu1384Gln) n.3236G>C c.4294G>C (p.Glu1432Gln) c.4291G>C (p.Glu1431Gln) c.3238G>C (p.Glu1080Gln) c.4084G>C (p.Glu1362Gln) c.3604G>C (p.Glu1202Gln) | |
| 12 | g.47974256C>T | CA384533761 | COL2A1 | c.3943G>A (p.Glu1315Lys) c.4150G>A (p.Glu1384Lys) n.3236G>A c.4294G>A (p.Glu1432Lys) c.4291G>A (p.Glu1431Lys) c.3238G>A (p.Glu1080Lys) c.4084G>A (p.Glu1362Lys) c.3604G>A (p.Glu1202Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974257C>A | CA479450221 | COL2A1 | c.3942G>T (p.Thr1314=) c.4149G>T (p.Thr1383=) n.3235G>T c.4293G>T (p.Thr1431=) c.4290G>T (p.Thr1430=) c.3237G>T (p.Thr1079=) c.4083G>T (p.Thr1361=) c.3603G>T (p.Thr1201=) | ClinVar dbSNP |
| 12 | g.47974257C= | CA2034471833 | COL2A1 | c.3942G= (p.Thr1314=) c.4149G= (p.Thr1383=) n.3235G= c.4293G= (p.Thr1431=) c.4290G= (p.Thr1430=) c.3237G= (p.Thr1079=) c.4083G= (p.Thr1361=) c.3603G= (p.Thr1201=) | |
| 12 | g.47974257C>G | CA479450222 | COL2A1 | c.3942G>C (p.Thr1314=) c.4149G>C (p.Thr1383=) n.3235G>C c.4293G>C (p.Thr1431=) c.4290G>C (p.Thr1430=) c.3237G>C (p.Thr1079=) c.4083G>C (p.Thr1361=) c.3603G>C (p.Thr1201=) | |
| 12 | g.47974257C>T | CA6534524 | COL2A1 | c.3942G>A (p.Thr1314=) c.4149G>A (p.Thr1383=) n.3235G>A c.4293G>A (p.Thr1431=) c.4290G>A (p.Thr1430=) c.3237G>A (p.Thr1079=) c.4083G>A (p.Thr1361=) c.3603G>A (p.Thr1201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47974258G>A | CA128528 | COL2A1 | c.3941C>T (p.Thr1314Met) c.4148C>T (p.Thr1383Met) n.3234C>T c.4292C>T (p.Thr1431Met) c.4289C>T (p.Thr1430Met) c.3236C>T (p.Thr1079Met) c.4082C>T (p.Thr1361Met) c.3602C>T (p.Thr1201Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974258G>C | CA384533763 | COL2A1 | c.3941C>G (p.Thr1314Arg) c.4148C>G (p.Thr1383Arg) n.3234C>G c.4292C>G (p.Thr1431Arg) c.4289C>G (p.Thr1430Arg) c.3236C>G (p.Thr1079Arg) c.4082C>G (p.Thr1361Arg) c.3602C>G (p.Thr1201Arg) | |
| 12 | g.47974258G= | CA2034471841 | COL2A1 | c.3941C= (p.Thr1314=) c.4148C= (p.Thr1383=) n.3234C= c.4292C= (p.Thr1431=) c.4289C= (p.Thr1430=) c.3236C= (p.Thr1079=) c.4082C= (p.Thr1361=) c.3602C= (p.Thr1201=) | |
| 12 | g.47974258G>T | CA384533762 | COL2A1 | c.3941C>A (p.Thr1314Lys) c.4148C>A (p.Thr1383Lys) n.3234C>A c.4292C>A (p.Thr1431Lys) c.4289C>A (p.Thr1430Lys) c.3236C>A (p.Thr1079Lys) c.4082C>A (p.Thr1361Lys) c.3602C>A (p.Thr1201Lys) | |
| 12 | g.47974259T>A | CA384533764 | COL2A1 | c.3940A>T (p.Thr1314Ser) c.4147A>T (p.Thr1383Ser) n.3233A>T c.4291A>T (p.Thr1431Ser) c.4288A>T (p.Thr1430Ser) c.3235A>T (p.Thr1079Ser) c.4081A>T (p.Thr1361Ser) c.3601A>T (p.Thr1201Ser) | |
| 12 | g.47974259T>C | CA384533765 | COL2A1 | c.3940A>G (p.Thr1314Ala) c.4147A>G (p.Thr1383Ala) n.3233A>G c.4291A>G (p.Thr1431Ala) c.4288A>G (p.Thr1430Ala) c.3235A>G (p.Thr1079Ala) c.4081A>G (p.Thr1361Ala) c.3601A>G (p.Thr1201Ala) | |
| 12 | g.47974259T>G | CA384533766 | COL2A1 | c.3940A>C (p.Thr1314Pro) c.4147A>C (p.Thr1383Pro) n.3233A>C c.4291A>C (p.Thr1431Pro) c.4288A>C (p.Thr1430Pro) c.3235A>C (p.Thr1079Pro) c.4081A>C (p.Thr1361Pro) c.3601A>C (p.Thr1201Pro) | |
| 12 | g.47974260G>A | CA479450224 | COL2A1 | c.3939C>T (p.Ser1313=) c.4146C>T (p.Ser1382=) n.3232C>T c.4290C>T (p.Ser1430=) c.4287C>T (p.Ser1429=) c.3234C>T (p.Ser1078=) c.4080C>T (p.Ser1360=) c.3600C>T (p.Ser1200=) | ClinVar |
| 12 | g.47974260G>C | CA6534525 | COL2A1 | c.3939C>G (p.Ser1313=) c.4146C>G (p.Ser1382=) n.3232C>G c.4290C>G (p.Ser1430=) c.4287C>G (p.Ser1429=) c.3234C>G (p.Ser1078=) c.4080C>G (p.Ser1360=) c.3600C>G (p.Ser1200=) | dbSNP ExAC gnomAD v4 |
| 12 | g.47974260G= | CA2034471847 | COL2A1 | c.3939C= (p.Ser1313=) c.4146C= (p.Ser1382=) n.3232C= c.4290C= (p.Ser1430=) c.4287C= (p.Ser1429=) c.3234C= (p.Ser1078=) c.4080C= (p.Ser1360=) c.3600C= (p.Ser1200=) | |
| 12 | g.47974260G>T | CA479450223 | COL2A1 | c.3939C>A (p.Ser1313=) c.4146C>A (p.Ser1382=) n.3232C>A c.4290C>A (p.Ser1430=) c.4287C>A (p.Ser1429=) c.3234C>A (p.Ser1078=) c.4080C>A (p.Ser1360=) c.3600C>A (p.Ser1200=) | |
| 12 | g.47974261G>A | CA384533767 | COL2A1 | c.3938C>T (p.Ser1313Phe) c.4145C>T (p.Ser1382Phe) n.3231C>T c.4289C>T (p.Ser1430Phe) c.4286C>T (p.Ser1429Phe) c.3233C>T (p.Ser1078Phe) c.4079C>T (p.Ser1360Phe) c.3599C>T (p.Ser1200Phe) | |
| 12 | g.47974261G>C | CA384533768 | COL2A1 | c.3938C>G (p.Ser1313Cys) c.4145C>G (p.Ser1382Cys) n.3231C>G c.4289C>G (p.Ser1430Cys) c.4286C>G (p.Ser1429Cys) c.3233C>G (p.Ser1078Cys) c.4079C>G (p.Ser1360Cys) c.3599C>G (p.Ser1200Cys) | |
| 12 | g.47974261G>T | CA384533769 | COL2A1 | c.3938C>A (p.Ser1313Tyr) c.4145C>A (p.Ser1382Tyr) n.3231C>A c.4289C>A (p.Ser1430Tyr) c.4286C>A (p.Ser1429Tyr) c.3233C>A (p.Ser1078Tyr) c.4079C>A (p.Ser1360Tyr) c.3599C>A (p.Ser1200Tyr) |