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.47974099T>A | CA384533410 | COL2A1 | c.4100A>T (p.Asp1367Val) c.4307A>T (p.Asp1436Val) n.3393A>T c.4451A>T (p.Asp1484Val) c.4448A>T (p.Asp1483Val) c.3395A>T (p.Asp1132Val) c.4241A>T (p.Asp1414Val) c.3761A>T (p.Asp1254Val) | |
| 12 | g.47974099T>C | CA384533411 | COL2A1 | c.4100A>G (p.Asp1367Gly) c.4307A>G (p.Asp1436Gly) n.3393A>G c.4451A>G (p.Asp1484Gly) c.4448A>G (p.Asp1483Gly) c.3395A>G (p.Asp1132Gly) c.4241A>G (p.Asp1414Gly) c.3761A>G (p.Asp1254Gly) | |
| 12 | g.47974099T>G | CA384533412 | COL2A1 | c.4100A>C (p.Asp1367Ala) c.4307A>C (p.Asp1436Ala) n.3393A>C c.4451A>C (p.Asp1484Ala) c.4448A>C (p.Asp1483Ala) c.3395A>C (p.Asp1132Ala) c.4241A>C (p.Asp1414Ala) c.3761A>C (p.Asp1254Ala) | |
| 12 | g.47974100C>A | CA384533413 | COL2A1 | c.4099G>T (p.Asp1367Tyr) c.4306G>T (p.Asp1436Tyr) n.3392G>T c.4450G>T (p.Asp1484Tyr) c.4447G>T (p.Asp1483Tyr) c.3394G>T (p.Asp1132Tyr) c.4240G>T (p.Asp1414Tyr) c.3760G>T (p.Asp1254Tyr) | |
| 12 | g.47974100C= | CA2034471508 | COL2A1 | c.4099G= (p.Asp1367=) c.4306G= (p.Asp1436=) n.3392G= c.4450G= (p.Asp1484=) c.4447G= (p.Asp1483=) c.3394G= (p.Asp1132=) c.4240G= (p.Asp1414=) c.3760G= (p.Asp1254=) | |
| 12 | g.47974100C>G | CA384533414 | COL2A1 | c.4099G>C (p.Asp1367His) c.4306G>C (p.Asp1436His) n.3392G>C c.4450G>C (p.Asp1484His) c.4447G>C (p.Asp1483His) c.3394G>C (p.Asp1132His) c.4240G>C (p.Asp1414His) c.3760G>C (p.Asp1254His) | |
| 12 | g.47974100C>T | CA246354 | COL2A1 | c.4099G>A (p.Asp1367Asn) c.4306G>A (p.Asp1436Asn) n.3392G>A c.4450G>A (p.Asp1484Asn) c.4447G>A (p.Asp1483Asn) c.3394G>A (p.Asp1132Asn) c.4240G>A (p.Asp1414Asn) c.3760G>A (p.Asp1254Asn) | ClinVar dbSNP |
| 12 | g.47974101C>A | CA384533415 | COL2A1 | c.4098G>T (p.Lys1366Asn) c.4305G>T (p.Lys1435Asn) n.3391G>T c.4449G>T (p.Lys1483Asn) c.4446G>T (p.Lys1482Asn) c.3393G>T (p.Lys1131Asn) c.4239G>T (p.Lys1413Asn) c.3759G>T (p.Lys1253Asn) | |
| 12 | g.47974101C>G | CA384533416 | COL2A1 | c.4098G>C (p.Lys1366Asn) c.4305G>C (p.Lys1435Asn) n.3391G>C c.4449G>C (p.Lys1483Asn) c.4446G>C (p.Lys1482Asn) c.3393G>C (p.Lys1131Asn) c.4239G>C (p.Lys1413Asn) c.3759G>C (p.Lys1253Asn) | |
| 12 | g.47974101C>T | CA479449511 | COL2A1 | c.4098G>A (p.Lys1366=) c.4305G>A (p.Lys1435=) n.3391G>A c.4449G>A (p.Lys1483=) c.4446G>A (p.Lys1482=) c.3393G>A (p.Lys1131=) c.4239G>A (p.Lys1413=) c.3759G>A (p.Lys1253=) | |
| 12 | g.47974102T>A | CA384533417 | COL2A1 | c.4097A>T (p.Lys1366Met) c.4304A>T (p.Lys1435Met) n.3390A>T c.4448A>T (p.Lys1483Met) c.4445A>T (p.Lys1482Met) c.3392A>T (p.Lys1131Met) c.4238A>T (p.Lys1413Met) c.3758A>T (p.Lys1253Met) | |
| 12 | g.47974102T>C | CA384533418 | COL2A1 | c.4097A>G (p.Lys1366Arg) c.4304A>G (p.Lys1435Arg) n.3390A>G c.4448A>G (p.Lys1483Arg) c.4445A>G (p.Lys1482Arg) c.3392A>G (p.Lys1131Arg) c.4238A>G (p.Lys1413Arg) c.3758A>G (p.Lys1253Arg) | |
| 12 | g.47974102T>G | CA384533419 | COL2A1 | c.4097A>C (p.Lys1366Thr) c.4304A>C (p.Lys1435Thr) n.3390A>C c.4448A>C (p.Lys1483Thr) c.4445A>C (p.Lys1482Thr) c.3392A>C (p.Lys1131Thr) c.4238A>C (p.Lys1413Thr) c.3758A>C (p.Lys1253Thr) | |
| 12 | g.47974103T>A | CA384533420 | COL2A1 | c.4096A>T (p.Lys1366Ter) c.4303A>T (p.Lys1435Ter) n.3389A>T c.4447A>T (p.Lys1483Ter) c.4444A>T (p.Lys1482Ter) c.3391A>T (p.Lys1131Ter) c.4237A>T (p.Lys1413Ter) c.3757A>T (p.Lys1253Ter) | ClinVar |
| 12 | g.47974103T>C | CA384533422 | COL2A1 | c.4096A>G (p.Lys1366Glu) c.4303A>G (p.Lys1435Glu) n.3389A>G c.4447A>G (p.Lys1483Glu) c.4444A>G (p.Lys1482Glu) c.3391A>G (p.Lys1131Glu) c.4237A>G (p.Lys1413Glu) c.3757A>G (p.Lys1253Glu) | dbSNP gnomAD v4 |
| 12 | g.47974103T>G | CA384533421 | COL2A1 | c.4096A>C (p.Lys1366Gln) c.4303A>C (p.Lys1435Gln) n.3389A>C c.4447A>C (p.Lys1483Gln) c.4444A>C (p.Lys1482Gln) c.3391A>C (p.Lys1131Gln) c.4237A>C (p.Lys1413Gln) c.3757A>C (p.Lys1253Gln) | |
| 12 | g.47974103T= | CA2034471514 | COL2A1 | c.4096A= (p.Lys1366=) c.4303A= (p.Lys1435=) n.3389A= c.4447A= (p.Lys1483=) c.4444A= (p.Lys1482=) c.3391A= (p.Lys1131=) c.4237A= (p.Lys1413=) c.3757A= (p.Lys1253=) | |
| 12 | g.47974104C>A | CA479449526 | COL2A1 | c.4095G>T (p.Leu1365=) c.4302G>T (p.Leu1434=) n.3388G>T c.4446G>T (p.Leu1482=) c.4443G>T (p.Leu1481=) c.3390G>T (p.Leu1130=) c.4236G>T (p.Leu1412=) c.3756G>T (p.Leu1252=) | |
| 12 | g.47974104C>G | CA479449524 | COL2A1 | c.4095G>C (p.Leu1365=) c.4302G>C (p.Leu1434=) n.3388G>C c.4446G>C (p.Leu1482=) c.4443G>C (p.Leu1481=) c.3390G>C (p.Leu1130=) c.4236G>C (p.Leu1412=) c.3756G>C (p.Leu1252=) | |
| 12 | g.47974104C>T | CA479449522 | COL2A1 | c.4095G>A (p.Leu1365=) c.4302G>A (p.Leu1434=) n.3388G>A c.4446G>A (p.Leu1482=) c.4443G>A (p.Leu1481=) c.3390G>A (p.Leu1130=) c.4236G>A (p.Leu1412=) c.3756G>A (p.Leu1252=) | gnomAD v4 |
| 12 | g.47974105A>C | CA384533423 | COL2A1 | c.4094T>G (p.Leu1365Arg) c.4301T>G (p.Leu1434Arg) n.3387T>G c.4445T>G (p.Leu1482Arg) c.4442T>G (p.Leu1481Arg) c.3389T>G (p.Leu1130Arg) c.4235T>G (p.Leu1412Arg) c.3755T>G (p.Leu1252Arg) | |
| 12 | g.47974105A>G | CA384533424 | COL2A1 | c.4094T>C (p.Leu1365Pro) c.4301T>C (p.Leu1434Pro) n.3387T>C c.4445T>C (p.Leu1482Pro) c.4442T>C (p.Leu1481Pro) c.3389T>C (p.Leu1130Pro) c.4235T>C (p.Leu1412Pro) c.3755T>C (p.Leu1252Pro) | |
| 12 | g.47974105A>T | CA384533425 | COL2A1 | c.4094T>A (p.Leu1365Gln) c.4301T>A (p.Leu1434Gln) n.3387T>A c.4445T>A (p.Leu1482Gln) c.4442T>A (p.Leu1481Gln) c.3389T>A (p.Leu1130Gln) c.4235T>A (p.Leu1412Gln) c.3755T>A (p.Leu1252Gln) | |
| 12 | g.47974106G>A | CA479449532 | COL2A1 | c.4093C>T (p.Leu1365=) c.4300C>T (p.Leu1434=) n.3386C>T c.4444C>T (p.Leu1482=) c.4441C>T (p.Leu1481=) c.3388C>T (p.Leu1130=) c.4234C>T (p.Leu1412=) c.3754C>T (p.Leu1252=) | gnomAD v4 |
| 12 | g.47974106G>C | CA384533426 | COL2A1 | c.4093C>G (p.Leu1365Val) c.4300C>G (p.Leu1434Val) n.3386C>G c.4444C>G (p.Leu1482Val) c.4441C>G (p.Leu1481Val) c.3388C>G (p.Leu1130Val) c.4234C>G (p.Leu1412Val) c.3754C>G (p.Leu1252Val) | |
| 12 | g.47974106G>T | CA384533427 | COL2A1 | c.4093C>A (p.Leu1365Met) c.4300C>A (p.Leu1434Met) n.3386C>A c.4444C>A (p.Leu1482Met) c.4441C>A (p.Leu1481Met) c.3388C>A (p.Leu1130Met) c.4234C>A (p.Leu1412Met) c.3754C>A (p.Leu1252Met) | gnomAD v4 |
| 12 | g.47974108del | CA2695216610 | COL2A1 | c.4093del (p.Leu1365Ter) c.4300del (p.Leu1434Ter) n.3386del c.4444del (p.Leu1482Ter) c.4441del (p.Leu1481Ter) c.3388del (p.Leu1130Ter) c.4234del (p.Leu1412Ter) c.3754del (p.Leu1252Ter) | |
| 12 | g.47974107G>A | CA479449535 | COL2A1 | c.4092C>T (p.Ala1364=) c.4299C>T (p.Ala1433=) n.3385C>T c.4443C>T (p.Ala1481=) c.4440C>T (p.Ala1480=) c.3387C>T (p.Ala1129=) c.4233C>T (p.Ala1411=) c.3753C>T (p.Ala1251=) | ClinVar |
| 12 | g.47974107G>C | CA479449538 | COL2A1 | c.4092C>G (p.Ala1364=) c.4299C>G (p.Ala1433=) n.3385C>G c.4443C>G (p.Ala1481=) c.4440C>G (p.Ala1480=) c.3387C>G (p.Ala1129=) c.4233C>G (p.Ala1411=) c.3753C>G (p.Ala1251=) | |
| 12 | g.47974107G>T | CA479449536 | COL2A1 | c.4092C>A (p.Ala1364=) c.4299C>A (p.Ala1433=) n.3385C>A c.4443C>A (p.Ala1481=) c.4440C>A (p.Ala1480=) c.3387C>A (p.Ala1129=) c.4233C>A (p.Ala1411=) c.3753C>A (p.Ala1251=) | |
| 12 | g.47974108G>A | CA384533428 | COL2A1 | c.4091C>T (p.Ala1364Val) c.4298C>T (p.Ala1433Val) n.3384C>T c.4442C>T (p.Ala1481Val) c.4439C>T (p.Ala1480Val) c.3386C>T (p.Ala1129Val) c.4232C>T (p.Ala1411Val) c.3752C>T (p.Ala1251Val) | |
| 12 | g.47974108G>C | CA384533429 | COL2A1 | c.4091C>G (p.Ala1364Gly) c.4298C>G (p.Ala1433Gly) n.3384C>G c.4442C>G (p.Ala1481Gly) c.4439C>G (p.Ala1480Gly) c.3386C>G (p.Ala1129Gly) c.4232C>G (p.Ala1411Gly) c.3752C>G (p.Ala1251Gly) | |
| 12 | g.47974108G>T | CA384533430 | COL2A1 | c.4091C>A (p.Ala1364Asp) c.4298C>A (p.Ala1433Asp) n.3384C>A c.4442C>A (p.Ala1481Asp) c.4439C>A (p.Ala1480Asp) c.3386C>A (p.Ala1129Asp) c.4232C>A (p.Ala1411Asp) c.3752C>A (p.Ala1251Asp) | |
| 12 | g.47974109C>A | CA384533431 | COL2A1 | c.4090G>T (p.Ala1364Ser) c.4297G>T (p.Ala1433Ser) n.3383G>T c.4441G>T (p.Ala1481Ser) c.4438G>T (p.Ala1480Ser) c.3385G>T (p.Ala1129Ser) c.4231G>T (p.Ala1411Ser) c.3751G>T (p.Ala1251Ser) | |
| 12 | g.47974109C>G | CA384533432 | COL2A1 | c.4090G>C (p.Ala1364Pro) c.4297G>C (p.Ala1433Pro) n.3383G>C c.4441G>C (p.Ala1481Pro) c.4438G>C (p.Ala1480Pro) c.3385G>C (p.Ala1129Pro) c.4231G>C (p.Ala1411Pro) c.3751G>C (p.Ala1251Pro) | |
| 12 | g.47974109C>T | CA384533433 | COL2A1 | c.4090G>A (p.Ala1364Thr) c.4297G>A (p.Ala1433Thr) n.3383G>A c.4441G>A (p.Ala1481Thr) c.4438G>A (p.Ala1480Thr) c.3385G>A (p.Ala1129Thr) c.4231G>A (p.Ala1411Thr) c.3751G>A (p.Ala1251Thr) | |
| 12 | g.47974110A>C | CA479449548 | COL2A1 | c.4089T>G (p.Thr1363=) c.4296T>G (p.Thr1432=) n.3382T>G c.4440T>G (p.Thr1480=) c.4437T>G (p.Thr1479=) c.3384T>G (p.Thr1128=) c.4230T>G (p.Thr1410=) c.3750T>G (p.Thr1250=) | |
| 12 | g.47974110A>G | CA479449550 | COL2A1 | c.4089T>C (p.Thr1363=) c.4296T>C (p.Thr1432=) n.3382T>C c.4440T>C (p.Thr1480=) c.4437T>C (p.Thr1479=) c.3384T>C (p.Thr1128=) c.4230T>C (p.Thr1410=) c.3750T>C (p.Thr1250=) | |
| 12 | g.47974110A>T | CA479449552 | COL2A1 | c.4089T>A (p.Thr1363=) c.4296T>A (p.Thr1432=) n.3382T>A c.4440T>A (p.Thr1480=) c.4437T>A (p.Thr1479=) c.3384T>A (p.Thr1128=) c.4230T>A (p.Thr1410=) c.3750T>A (p.Thr1250=) | |
| 12 | g.47974111G>A | CA384533435 | COL2A1 | c.4088C>T (p.Thr1363Ile) c.4295C>T (p.Thr1432Ile) n.3381C>T c.4439C>T (p.Thr1480Ile) c.4436C>T (p.Thr1479Ile) c.3383C>T (p.Thr1128Ile) c.4229C>T (p.Thr1410Ile) c.3749C>T (p.Thr1250Ile) | |
| 12 | g.47974111G>C | CA384533436 | COL2A1 | c.4088C>G (p.Thr1363Ser) c.4295C>G (p.Thr1432Ser) n.3381C>G c.4439C>G (p.Thr1480Ser) c.4436C>G (p.Thr1479Ser) c.3383C>G (p.Thr1128Ser) c.4229C>G (p.Thr1410Ser) c.3749C>G (p.Thr1250Ser) | |
| 12 | g.47974111G>T | CA384533434 | COL2A1 | c.4088C>A (p.Thr1363Asn) c.4295C>A (p.Thr1432Asn) n.3381C>A c.4439C>A (p.Thr1480Asn) c.4436C>A (p.Thr1479Asn) c.3383C>A (p.Thr1128Asn) c.4229C>A (p.Thr1410Asn) c.3749C>A (p.Thr1250Asn) | |
| 12 | g.47974112T>A | CA384533438 | COL2A1 | c.4087A>T (p.Thr1363Ser) c.4294A>T (p.Thr1432Ser) n.3380A>T c.4438A>T (p.Thr1480Ser) c.4435A>T (p.Thr1479Ser) c.3382A>T (p.Thr1128Ser) c.4228A>T (p.Thr1410Ser) c.3748A>T (p.Thr1250Ser) | |
| 12 | g.47974112T>C | CA384533437 | COL2A1 | c.4087A>G (p.Thr1363Ala) c.4294A>G (p.Thr1432Ala) n.3380A>G c.4438A>G (p.Thr1480Ala) c.4435A>G (p.Thr1479Ala) c.3382A>G (p.Thr1128Ala) c.4228A>G (p.Thr1410Ala) c.3748A>G (p.Thr1250Ala) | dbSNP gnomAD v4 |
| 12 | g.47974112T>G | CA384533439 | COL2A1 | c.4087A>C (p.Thr1363Pro) c.4294A>C (p.Thr1432Pro) n.3380A>C c.4438A>C (p.Thr1480Pro) c.4435A>C (p.Thr1479Pro) c.3382A>C (p.Thr1128Pro) c.4228A>C (p.Thr1410Pro) c.3748A>C (p.Thr1250Pro) | |
| 12 | g.47974112T= | CA2034471517 | COL2A1 | c.4087A= (p.Thr1363=) c.4294A= (p.Thr1432=) n.3380A= c.4438A= (p.Thr1480=) c.4435A= (p.Thr1479=) c.3382A= (p.Thr1128=) c.4228A= (p.Thr1410=) c.3748A= (p.Thr1250=) | |
| 12 | g.47974113G>A | CA479449559 | COL2A1 | c.4086C>T (p.Tyr1362=) c.4293C>T (p.Tyr1431=) n.3379C>T c.4437C>T (p.Tyr1479=) c.4434C>T (p.Tyr1478=) c.3381C>T (p.Tyr1127=) c.4227C>T (p.Tyr1409=) c.3747C>T (p.Tyr1249=) | gnomAD v4 |
| 12 | g.47974113G>C | CA384533440 | COL2A1 | c.4086C>G (p.Tyr1362Ter) c.4293C>G (p.Tyr1431Ter) n.3379C>G c.4437C>G (p.Tyr1479Ter) c.4434C>G (p.Tyr1478Ter) c.3381C>G (p.Tyr1127Ter) c.4227C>G (p.Tyr1409Ter) c.3747C>G (p.Tyr1249Ter) | |
| 12 | g.47974113G>T | CA384533441 | COL2A1 | c.4086C>A (p.Tyr1362Ter) c.4293C>A (p.Tyr1431Ter) n.3379C>A c.4437C>A (p.Tyr1479Ter) c.4434C>A (p.Tyr1478Ter) c.3381C>A (p.Tyr1127Ter) c.4227C>A (p.Tyr1409Ter) c.3747C>A (p.Tyr1249Ter) | ClinVar dbSNP |
| 12 | g.47974114T>A | CA384533442 | COL2A1 | c.4085A>T (p.Tyr1362Phe) c.4292A>T (p.Tyr1431Phe) n.3378A>T c.4436A>T (p.Tyr1479Phe) c.4433A>T (p.Tyr1478Phe) c.3380A>T (p.Tyr1127Phe) c.4226A>T (p.Tyr1409Phe) c.3746A>T (p.Tyr1249Phe) | |
| 12 | g.47974114T>C | CA384533443 | COL2A1 | c.4085A>G (p.Tyr1362Cys) c.4292A>G (p.Tyr1431Cys) n.3378A>G c.4436A>G (p.Tyr1479Cys) c.4433A>G (p.Tyr1478Cys) c.3380A>G (p.Tyr1127Cys) c.4226A>G (p.Tyr1409Cys) c.3746A>G (p.Tyr1249Cys) | |
| 12 | g.47974114T>G | CA384533444 | COL2A1 | c.4085A>C (p.Tyr1362Ser) c.4292A>C (p.Tyr1431Ser) n.3378A>C c.4436A>C (p.Tyr1479Ser) c.4433A>C (p.Tyr1478Ser) c.3380A>C (p.Tyr1127Ser) c.4226A>C (p.Tyr1409Ser) c.3746A>C (p.Tyr1249Ser) | |
| 12 | g.47974115A= | CA2034471522 | COL2A1 | c.4084T= (p.Tyr1362=) c.4291T= (p.Tyr1431=) n.3377T= c.4435T= (p.Tyr1479=) c.4432T= (p.Tyr1478=) c.3379T= (p.Tyr1127=) c.4225T= (p.Tyr1409=) c.3745T= (p.Tyr1249=) | |
| 12 | g.47974115A>C | CA384533445 | COL2A1 | c.4084T>G (p.Tyr1362Asp) c.4291T>G (p.Tyr1431Asp) n.3377T>G c.4435T>G (p.Tyr1479Asp) c.4432T>G (p.Tyr1478Asp) c.3379T>G (p.Tyr1127Asp) c.4225T>G (p.Tyr1409Asp) c.3745T>G (p.Tyr1249Asp) | |
| 12 | g.47974115A>G | CA384533446 | COL2A1 | c.4084T>C (p.Tyr1362His) c.4291T>C (p.Tyr1431His) n.3377T>C c.4435T>C (p.Tyr1479His) c.4432T>C (p.Tyr1478His) c.3379T>C (p.Tyr1127His) c.4225T>C (p.Tyr1409His) c.3745T>C (p.Tyr1249His) | ClinVar dbSNP |
| 12 | g.47974115A>T | CA384533447 | COL2A1 | c.4084T>A (p.Tyr1362Asn) c.4291T>A (p.Tyr1431Asn) n.3377T>A c.4435T>A (p.Tyr1479Asn) c.4432T>A (p.Tyr1478Asn) c.3379T>A (p.Tyr1127Asn) c.4225T>A (p.Tyr1409Asn) c.3745T>A (p.Tyr1249Asn) | |
| 12 | g.47974116_47974120dup | CA2497030203 | COL2A1 | c.4080_4084dup (p.Tyr1362SerfsTer6) c.4287_4291dup (p.Tyr1431SerfsTer6) n.3373_3377dup c.4431_4435dup (p.Tyr1479SerfsTer6) c.4428_4432dup (p.Tyr1478SerfsTer6) c.3375_3379dup (p.Tyr1127SerfsTer6) c.4221_4225dup (p.Tyr1409SerfsTer6) c.3741_3745dup (p.Tyr1249SerfsTer6) | ClinVar dbSNP |
| 12 | g.47974116C>A | CA479449568 | COL2A1 | c.4083G>T (p.Thr1361=) c.4290G>T (p.Thr1430=) n.3376G>T c.4434G>T (p.Thr1478=) c.4431G>T (p.Thr1477=) c.3378G>T (p.Thr1126=) c.4224G>T (p.Thr1408=) c.3744G>T (p.Thr1248=) | |
| 12 | g.47974116C= | CA2034471528 | COL2A1 | c.4083G= (p.Thr1361=) c.4290G= (p.Thr1430=) n.3376G= c.4434G= (p.Thr1478=) c.4431G= (p.Thr1477=) c.3378G= (p.Thr1126=) c.4224G= (p.Thr1408=) c.3744G= (p.Thr1248=) | |
| 12 | g.47974116C>G | CA479449570 | COL2A1 | c.4083G>C (p.Thr1361=) c.4290G>C (p.Thr1430=) n.3376G>C c.4434G>C (p.Thr1478=) c.4431G>C (p.Thr1477=) c.3378G>C (p.Thr1126=) c.4224G>C (p.Thr1408=) c.3744G>C (p.Thr1248=) | |
| 12 | g.47974116C>T | CA6534506 | COL2A1 | c.4083G>A (p.Thr1361=) c.4290G>A (p.Thr1430=) n.3376G>A c.4434G>A (p.Thr1478=) c.4431G>A (p.Thr1477=) c.3378G>A (p.Thr1126=) c.4224G>A (p.Thr1408=) c.3744G>A (p.Thr1248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974117G>A | CA6534507 | COL2A1 | c.4082C>T (p.Thr1361Met) c.4289C>T (p.Thr1430Met) n.3375C>T c.4433C>T (p.Thr1478Met) c.4430C>T (p.Thr1477Met) c.3377C>T (p.Thr1126Met) c.4223C>T (p.Thr1408Met) c.3743C>T (p.Thr1248Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974117G>C | CA384533448 | COL2A1 | c.4082C>G (p.Thr1361Arg) c.4289C>G (p.Thr1430Arg) n.3375C>G c.4433C>G (p.Thr1478Arg) c.4430C>G (p.Thr1477Arg) c.3377C>G (p.Thr1126Arg) c.4223C>G (p.Thr1408Arg) c.3743C>G (p.Thr1248Arg) | gnomAD v4 |
| 12 | g.47974117G= | CA2034471535 | COL2A1 | c.4082C= (p.Thr1361=) c.4289C= (p.Thr1430=) n.3375C= c.4433C= (p.Thr1478=) c.4430C= (p.Thr1477=) c.3377C= (p.Thr1126=) c.4223C= (p.Thr1408=) c.3743C= (p.Thr1248=) | |
| 12 | g.47974117G>T | CA384533449 | COL2A1 | c.4082C>A (p.Thr1361Lys) c.4289C>A (p.Thr1430Lys) n.3375C>A c.4433C>A (p.Thr1478Lys) c.4430C>A (p.Thr1477Lys) c.3377C>A (p.Thr1126Lys) c.4223C>A (p.Thr1408Lys) c.3743C>A (p.Thr1248Lys) | |
| 12 | g.47974118T>A | CA384533450 | COL2A1 | c.4081A>T (p.Thr1361Ser) c.4288A>T (p.Thr1430Ser) n.3374A>T c.4432A>T (p.Thr1478Ser) c.4429A>T (p.Thr1477Ser) c.3376A>T (p.Thr1126Ser) c.4222A>T (p.Thr1408Ser) c.3742A>T (p.Thr1248Ser) | |
| 12 | g.47974118T>C | CA384533451 | COL2A1 | c.4081A>G (p.Thr1361Ala) c.4288A>G (p.Thr1430Ala) n.3374A>G c.4432A>G (p.Thr1478Ala) c.4429A>G (p.Thr1477Ala) c.3376A>G (p.Thr1126Ala) c.4222A>G (p.Thr1408Ala) c.3742A>G (p.Thr1248Ala) | gnomAD v4 |
| 12 | g.47974118T>G | CA384533452 | COL2A1 | c.4081A>C (p.Thr1361Pro) c.4288A>C (p.Thr1430Pro) n.3374A>C c.4432A>C (p.Thr1478Pro) c.4429A>C (p.Thr1477Pro) c.3376A>C (p.Thr1126Pro) c.4222A>C (p.Thr1408Pro) c.3742A>C (p.Thr1248Pro) | |
| 12 | g.47974119G>A | CA479449580 | COL2A1 | c.4080C>T (p.Phe1360=) c.4287C>T (p.Phe1429=) n.3373C>T c.4431C>T (p.Phe1477=) c.4428C>T (p.Phe1476=) c.3375C>T (p.Phe1125=) c.4221C>T (p.Phe1407=) c.3741C>T (p.Phe1247=) | COSMIC COSMIC |
| 12 | g.47974119G>C | CA384533453 | COL2A1 | c.4080C>G (p.Phe1360Leu) c.4287C>G (p.Phe1429Leu) n.3373C>G c.4431C>G (p.Phe1477Leu) c.4428C>G (p.Phe1476Leu) c.3375C>G (p.Phe1125Leu) c.4221C>G (p.Phe1407Leu) c.3741C>G (p.Phe1247Leu) | |
| 12 | g.47974119G>T | CA384533454 | COL2A1 | c.4080C>A (p.Phe1360Leu) c.4287C>A (p.Phe1429Leu) n.3373C>A c.4431C>A (p.Phe1477Leu) c.4428C>A (p.Phe1476Leu) c.3375C>A (p.Phe1125Leu) c.4221C>A (p.Phe1407Leu) c.3741C>A (p.Phe1247Leu) | |
| 12 | g.47974120A>C | CA384533455 | COL2A1 | c.4079T>G (p.Phe1360Cys) c.4286T>G (p.Phe1429Cys) n.3372T>G c.4430T>G (p.Phe1477Cys) c.4427T>G (p.Phe1476Cys) c.3374T>G (p.Phe1125Cys) c.4220T>G (p.Phe1407Cys) c.3740T>G (p.Phe1247Cys) | |
| 12 | g.47974120A>G | CA384533456 | COL2A1 | c.4079T>C (p.Phe1360Ser) c.4286T>C (p.Phe1429Ser) n.3372T>C c.4430T>C (p.Phe1477Ser) c.4427T>C (p.Phe1476Ser) c.3374T>C (p.Phe1125Ser) c.4220T>C (p.Phe1407Ser) c.3740T>C (p.Phe1247Ser) | |
| 12 | g.47974120A>T | CA384533457 | COL2A1 | c.4079T>A (p.Phe1360Tyr) c.4286T>A (p.Phe1429Tyr) n.3372T>A c.4430T>A (p.Phe1477Tyr) c.4427T>A (p.Phe1476Tyr) c.3374T>A (p.Phe1125Tyr) c.4220T>A (p.Phe1407Tyr) c.3740T>A (p.Phe1247Tyr) | |
| 12 | g.47974121A>C | CA384533458 | COL2A1 | c.4078T>G (p.Phe1360Val) c.4285T>G (p.Phe1429Val) n.3371T>G c.4429T>G (p.Phe1477Val) c.4426T>G (p.Phe1476Val) c.3373T>G (p.Phe1125Val) c.4219T>G (p.Phe1407Val) c.3739T>G (p.Phe1247Val) | |
| 12 | g.47974121A>G | CA384533459 | COL2A1 | c.4078T>C (p.Phe1360Leu) c.4285T>C (p.Phe1429Leu) n.3371T>C c.4429T>C (p.Phe1477Leu) c.4426T>C (p.Phe1476Leu) c.3373T>C (p.Phe1125Leu) c.4219T>C (p.Phe1407Leu) c.3739T>C (p.Phe1247Leu) | |
| 12 | g.47974121A>T | CA384533460 | COL2A1 | c.4078T>A (p.Phe1360Ile) c.4285T>A (p.Phe1429Ile) n.3371T>A c.4429T>A (p.Phe1477Ile) c.4426T>A (p.Phe1476Ile) c.3373T>A (p.Phe1125Ile) c.4219T>A (p.Phe1407Ile) c.3739T>A (p.Phe1247Ile) | |
| 12 | g.47974122C>A | CA384533461 | COL2A1 | c.4077G>T (p.Arg1359Ser) c.4284G>T (p.Arg1428Ser) n.3370G>T c.4428G>T (p.Arg1476Ser) c.4425G>T (p.Arg1475Ser) c.3372G>T (p.Arg1124Ser) c.4218G>T (p.Arg1406Ser) c.3738G>T (p.Arg1246Ser) | |
| 12 | g.47974122C>G | CA384533462 | COL2A1 | c.4077G>C (p.Arg1359Ser) c.4284G>C (p.Arg1428Ser) n.3370G>C c.4428G>C (p.Arg1476Ser) c.4425G>C (p.Arg1475Ser) c.3372G>C (p.Arg1124Ser) c.4218G>C (p.Arg1406Ser) c.3738G>C (p.Arg1246Ser) | |
| 12 | g.47974122C>T | CA479449594 | COL2A1 | c.4077G>A (p.Arg1359=) c.4284G>A (p.Arg1428=) n.3370G>A c.4428G>A (p.Arg1476=) c.4425G>A (p.Arg1475=) c.3372G>A (p.Arg1124=) c.4218G>A (p.Arg1406=) c.3738G>A (p.Arg1246=) | |
| 12 | g.47974123C>A | CA384533463 | COL2A1 | c.4076G>T (p.Arg1359Met) c.4283G>T (p.Arg1428Met) n.3369G>T c.4427G>T (p.Arg1476Met) c.4424G>T (p.Arg1475Met) c.3371G>T (p.Arg1124Met) c.4217G>T (p.Arg1406Met) c.3737G>T (p.Arg1246Met) | |
| 12 | g.47974123C>G | CA384533464 | COL2A1 | c.4076G>C (p.Arg1359Thr) c.4283G>C (p.Arg1428Thr) n.3369G>C c.4427G>C (p.Arg1476Thr) c.4424G>C (p.Arg1475Thr) c.3371G>C (p.Arg1124Thr) c.4217G>C (p.Arg1406Thr) c.3737G>C (p.Arg1246Thr) | |
| 12 | g.47974123C>T | CA384533465 | COL2A1 | c.4076G>A (p.Arg1359Lys) c.4283G>A (p.Arg1428Lys) n.3369G>A c.4427G>A (p.Arg1476Lys) c.4424G>A (p.Arg1475Lys) c.3371G>A (p.Arg1124Lys) c.4217G>A (p.Arg1406Lys) c.3737G>A (p.Arg1246Lys) | gnomAD v4 |
| 12 | g.47974124T>A | CA384533467 | COL2A1 | c.4075A>T (p.Arg1359Trp) c.4282A>T (p.Arg1428Trp) n.3368A>T c.4426A>T (p.Arg1476Trp) c.4423A>T (p.Arg1475Trp) c.3370A>T (p.Arg1124Trp) c.4216A>T (p.Arg1406Trp) c.3736A>T (p.Arg1246Trp) | |
| 12 | g.47974124T>C | CA384533466 | COL2A1 | c.4075A>G (p.Arg1359Gly) c.4282A>G (p.Arg1428Gly) n.3368A>G c.4426A>G (p.Arg1476Gly) c.4423A>G (p.Arg1475Gly) c.3370A>G (p.Arg1124Gly) c.4216A>G (p.Arg1406Gly) c.3736A>G (p.Arg1246Gly) | |
| 12 | g.47974124T>G | CA479449602 | COL2A1 | c.4075A>C (p.Arg1359=) c.4282A>C (p.Arg1428=) n.3368A>C c.4426A>C (p.Arg1476=) c.4423A>C (p.Arg1475=) c.3370A>C (p.Arg1124=) c.4216A>C (p.Arg1406=) c.3736A>C (p.Arg1246=) | |
| 12 | g.47974125G>A | CA479449605 | COL2A1 | c.4074C>T (p.Ser1358=) c.4281C>T (p.Ser1427=) n.3367C>T c.4425C>T (p.Ser1475=) c.4422C>T (p.Ser1474=) c.3369C>T (p.Ser1123=) c.4215C>T (p.Ser1405=) c.3735C>T (p.Ser1245=) | |
| 12 | g.47974125G>C | CA384533468 | COL2A1 | c.4074C>G (p.Ser1358Arg) c.4281C>G (p.Ser1427Arg) n.3367C>G c.4425C>G (p.Ser1475Arg) c.4422C>G (p.Ser1474Arg) c.3369C>G (p.Ser1123Arg) c.4215C>G (p.Ser1405Arg) c.3735C>G (p.Ser1245Arg) | ClinVar gnomAD v4 |
| 12 | g.47974125G= | CA2034471544 | COL2A1 | c.4074C= (p.Ser1358=) c.4281C= (p.Ser1427=) n.3367C= c.4425C= (p.Ser1475=) c.4422C= (p.Ser1474=) c.3369C= (p.Ser1123=) c.4215C= (p.Ser1405=) c.3735C= (p.Ser1245=) | |
| 12 | g.47974125G>T | CA384533469 | COL2A1 | c.4074C>A (p.Ser1358Arg) c.4281C>A (p.Ser1427Arg) n.3367C>A c.4425C>A (p.Ser1475Arg) c.4422C>A (p.Ser1474Arg) c.3369C>A (p.Ser1123Arg) c.4215C>A (p.Ser1405Arg) c.3735C>A (p.Ser1245Arg) | dbSNP |
| 12 | g.47974126C>A | CA384533470 | COL2A1 | c.4073G>T (p.Ser1358Ile) c.4280G>T (p.Ser1427Ile) n.3366G>T c.4424G>T (p.Ser1475Ile) c.4421G>T (p.Ser1474Ile) c.3368G>T (p.Ser1123Ile) c.4214G>T (p.Ser1405Ile) c.3734G>T (p.Ser1245Ile) | |
| 12 | g.47974126C= | CA2034471550 | COL2A1 | c.4073G= (p.Ser1358=) c.4280G= (p.Ser1427=) n.3366G= c.4424G= (p.Ser1475=) c.4421G= (p.Ser1474=) c.3368G= (p.Ser1123=) c.4214G= (p.Ser1405=) c.3734G= (p.Ser1245=) | |
| 12 | g.47974126C>G | CA384533471 | COL2A1 | c.4073G>C (p.Ser1358Thr) c.4280G>C (p.Ser1427Thr) n.3366G>C c.4424G>C (p.Ser1475Thr) c.4421G>C (p.Ser1474Thr) c.3368G>C (p.Ser1123Thr) c.4214G>C (p.Ser1405Thr) c.3734G>C (p.Ser1245Thr) | |
| 12 | g.47974126C>T | CA6534508 | COL2A1 | c.4073G>A (p.Ser1358Asn) c.4280G>A (p.Ser1427Asn) n.3366G>A c.4424G>A (p.Ser1475Asn) c.4421G>A (p.Ser1474Asn) c.3368G>A (p.Ser1123Asn) c.4214G>A (p.Ser1405Asn) c.3734G>A (p.Ser1245Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47974127T>A | CA384533472 | COL2A1 | c.4072A>T (p.Ser1358Cys) c.4279A>T (p.Ser1427Cys) n.3365A>T c.4423A>T (p.Ser1475Cys) c.4420A>T (p.Ser1474Cys) c.3367A>T (p.Ser1123Cys) c.4213A>T (p.Ser1405Cys) c.3733A>T (p.Ser1245Cys) | |
| 12 | g.47974127T>C | CA384533473 | COL2A1 | c.4072A>G (p.Ser1358Gly) c.4279A>G (p.Ser1427Gly) n.3365A>G c.4423A>G (p.Ser1475Gly) c.4420A>G (p.Ser1474Gly) c.3367A>G (p.Ser1123Gly) c.4213A>G (p.Ser1405Gly) c.3733A>G (p.Ser1245Gly) | dbSNP gnomAD v4 |
| 12 | g.47974127T>G | CA384533474 | COL2A1 | c.4072A>C (p.Ser1358Arg) c.4279A>C (p.Ser1427Arg) n.3365A>C c.4423A>C (p.Ser1475Arg) c.4420A>C (p.Ser1474Arg) c.3367A>C (p.Ser1123Arg) c.4213A>C (p.Ser1405Arg) c.3733A>C (p.Ser1245Arg) | |
| 12 | g.47974127T= | CA2034471553 | COL2A1 | c.4072A= (p.Ser1358=) c.4279A= (p.Ser1427=) n.3365A= c.4423A= (p.Ser1475=) c.4420A= (p.Ser1474=) c.3367A= (p.Ser1123=) c.4213A= (p.Ser1405=) c.3733A= (p.Ser1245=) | |
| 12 | g.47974128A>C | CA384533475 | COL2A1 | c.4071T>G (p.Asn1357Lys) c.4278T>G (p.Asn1426Lys) n.3364T>G c.4422T>G (p.Asn1474Lys) c.4419T>G (p.Asn1473Lys) c.3366T>G (p.Asn1122Lys) c.4212T>G (p.Asn1404Lys) c.3732T>G (p.Asn1244Lys) | |
| 12 | g.47974128A>G | CA479450142 | COL2A1 | c.4071T>C (p.Asn1357=) c.4278T>C (p.Asn1426=) n.3364T>C c.4422T>C (p.Asn1474=) c.4419T>C (p.Asn1473=) c.3366T>C (p.Asn1122=) c.4212T>C (p.Asn1404=) c.3732T>C (p.Asn1244=) | |
| 12 | g.47974128A>T | CA384533476 | COL2A1 | c.4071T>A (p.Asn1357Lys) c.4278T>A (p.Asn1426Lys) n.3364T>A c.4422T>A (p.Asn1474Lys) c.4419T>A (p.Asn1473Lys) c.3366T>A (p.Asn1122Lys) c.4212T>A (p.Asn1404Lys) c.3732T>A (p.Asn1244Lys) | |
| 12 | g.47974129T>A | CA384533477 | COL2A1 | c.4070A>T (p.Asn1357Ile) c.4277A>T (p.Asn1426Ile) n.3363A>T c.4421A>T (p.Asn1474Ile) c.4418A>T (p.Asn1473Ile) c.3365A>T (p.Asn1122Ile) c.4211A>T (p.Asn1404Ile) c.3731A>T (p.Asn1244Ile) | |
| 12 | g.47974129T>C | CA384533478 | COL2A1 | c.4070A>G (p.Asn1357Ser) c.4277A>G (p.Asn1426Ser) n.3363A>G c.4421A>G (p.Asn1474Ser) c.4418A>G (p.Asn1473Ser) c.3365A>G (p.Asn1122Ser) c.4211A>G (p.Asn1404Ser) c.3731A>G (p.Asn1244Ser) | |
| 12 | g.47974129T>G | CA384533479 | COL2A1 | c.4070A>C (p.Asn1357Thr) c.4277A>C (p.Asn1426Thr) n.3363A>C c.4421A>C (p.Asn1474Thr) c.4418A>C (p.Asn1473Thr) c.3365A>C (p.Asn1122Thr) c.4211A>C (p.Asn1404Thr) c.3731A>C (p.Asn1244Thr) | |
| 12 | g.47974130T>A | CA384533482 | COL2A1 | c.4069A>T (p.Asn1357Tyr) c.4276A>T (p.Asn1426Tyr) n.3362A>T c.4420A>T (p.Asn1474Tyr) c.4417A>T (p.Asn1473Tyr) c.3364A>T (p.Asn1122Tyr) c.4210A>T (p.Asn1404Tyr) c.3730A>T (p.Asn1244Tyr) | |
| 12 | g.47974130T>C | CA384533480 | COL2A1 | c.4069A>G (p.Asn1357Asp) c.4276A>G (p.Asn1426Asp) n.3362A>G c.4420A>G (p.Asn1474Asp) c.4417A>G (p.Asn1473Asp) c.3364A>G (p.Asn1122Asp) c.4210A>G (p.Asn1404Asp) c.3730A>G (p.Asn1244Asp) | |
| 12 | g.47974130T>G | CA384533481 | COL2A1 | c.4069A>C (p.Asn1357His) c.4276A>C (p.Asn1426His) n.3362A>C c.4420A>C (p.Asn1474His) c.4417A>C (p.Asn1473His) c.3364A>C (p.Asn1122His) c.4210A>C (p.Asn1404His) c.3730A>C (p.Asn1244His) | |
| 12 | g.47974131G>A | CA6534509 | COL2A1 | c.4068C>T (p.Gly1356=) c.4275C>T (p.Gly1425=) n.3361C>T c.4419C>T (p.Gly1473=) c.4416C>T (p.Gly1472=) c.3363C>T (p.Gly1121=) c.4209C>T (p.Gly1403=) c.3729C>T (p.Gly1243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47974131G>C | CA479450143 | COL2A1 | c.4068C>G (p.Gly1356=) c.4275C>G (p.Gly1425=) n.3361C>G c.4419C>G (p.Gly1473=) c.4416C>G (p.Gly1472=) c.3363C>G (p.Gly1121=) c.4209C>G (p.Gly1403=) c.3729C>G (p.Gly1243=) | |
| 12 | g.47974131G= | CA2034471558 | COL2A1 | c.4068C= (p.Gly1356=) c.4275C= (p.Gly1425=) n.3361C= c.4419C= (p.Gly1473=) c.4416C= (p.Gly1472=) c.3363C= (p.Gly1121=) c.4209C= (p.Gly1403=) c.3729C= (p.Gly1243=) | |
| 12 | g.47974131G>T | CA479450144 | COL2A1 | c.4068C>A (p.Gly1356=) c.4275C>A (p.Gly1425=) n.3361C>A c.4419C>A (p.Gly1473=) c.4416C>A (p.Gly1472=) c.3363C>A (p.Gly1121=) c.4209C>A (p.Gly1403=) c.3729C>A (p.Gly1243=) | |
| 12 | g.47974132C>A | CA384533483 | COL2A1 | c.4067G>T (p.Gly1356Val) c.4274G>T (p.Gly1425Val) n.3360G>T c.4418G>T (p.Gly1473Val) c.4415G>T (p.Gly1472Val) c.3362G>T (p.Gly1121Val) c.4208G>T (p.Gly1403Val) c.3728G>T (p.Gly1243Val) | |
| 12 | g.47974132C= | CA2034471567 | COL2A1 | c.4067G= (p.Gly1356=) c.4274G= (p.Gly1425=) n.3360G= c.4418G= (p.Gly1473=) c.4415G= (p.Gly1472=) c.3362G= (p.Gly1121=) c.4208G= (p.Gly1403=) c.3728G= (p.Gly1243=) | |
| 12 | g.47974132C>G | CA236515971 | COL2A1 | c.4067G>C (p.Gly1356Ala) c.4274G>C (p.Gly1425Ala) n.3360G>C c.4418G>C (p.Gly1473Ala) c.4415G>C (p.Gly1472Ala) c.3362G>C (p.Gly1121Ala) c.4208G>C (p.Gly1403Ala) c.3728G>C (p.Gly1243Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47974132C>T | CA384533484 | COL2A1 | c.4067G>A (p.Gly1356Asp) c.4274G>A (p.Gly1425Asp) n.3360G>A c.4418G>A (p.Gly1473Asp) c.4415G>A (p.Gly1472Asp) c.3362G>A (p.Gly1121Asp) c.4208G>A (p.Gly1403Asp) c.3728G>A (p.Gly1243Asp) | |
| 12 | g.47974133C>A | CA384533485 | COL2A1 | c.4066G>T (p.Gly1356Cys) c.4273G>T (p.Gly1425Cys) n.3359G>T c.4417G>T (p.Gly1473Cys) c.4414G>T (p.Gly1472Cys) c.3361G>T (p.Gly1121Cys) c.4207G>T (p.Gly1403Cys) c.3727G>T (p.Gly1243Cys) | |
| 12 | g.47974133C>G | CA384533486 | COL2A1 | c.4066G>C (p.Gly1356Arg) c.4273G>C (p.Gly1425Arg) n.3359G>C c.4417G>C (p.Gly1473Arg) c.4414G>C (p.Gly1472Arg) c.3361G>C (p.Gly1121Arg) c.4207G>C (p.Gly1403Arg) c.3727G>C (p.Gly1243Arg) | |
| 12 | g.47974133C>T | CA384533487 | COL2A1 | c.4066G>A (p.Gly1356Ser) c.4273G>A (p.Gly1425Ser) n.3359G>A c.4417G>A (p.Gly1473Ser) c.4414G>A (p.Gly1472Ser) c.3361G>A (p.Gly1121Ser) c.4207G>A (p.Gly1403Ser) c.3727G>A (p.Gly1243Ser) | |
| 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) |