Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47974200_47974211delinsTTCGTCCAGATACA2034471707COL2A1c.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=)
12g.47974201T>ACA384533630COL2A1c.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
12g.47974201T>CCA384533631COL2A1c.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)
12g.47974201T>GCA384533632COL2A1c.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)
12g.47974201T=CA2034471715COL2A1c.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=)
12g.47974201_47974211delinsGGCAATGCTCA658797880COL2A1c.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
12g.47974202C>ACA384533633COL2A1c.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)
12g.47974202C=CA2034471722COL2A1c.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=)
12g.47974202C>GCA384533634COL2A1c.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)
12g.47974202C>TCA6534519COL2A1c.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
12g.47974203G>ACA6534520COL2A1c.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
12g.47974203G>CCA384533635COL2A1c.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
12g.47974203G=CA2034471728COL2A1c.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=)
12g.47974203G>TCA384533636COL2A1c.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)
12g.47974204T>ACA384533637COL2A1c.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)
12g.47974204T>CCA384533638COL2A1c.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)
12g.47974204T>GCA384533639COL2A1c.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)
12g.47974205C>ACA384533642COL2A1c.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)
12g.47974205C>GCA384533641COL2A1c.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)
12g.47974205C>TCA384533640COL2A1c.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)
12g.47974206C>ACA479450194COL2A1c.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=)
12g.47974206C=CA2034471734COL2A1c.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=)
12g.47974206C>GCA479450195COL2A1c.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=)
12g.47974206C>TCA479450196COL2A1c.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
12g.47974207A>CCA384533643COL2A1c.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)
12g.47974207A>GCA384533644COL2A1c.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)
12g.47974207A>TCA384533645COL2A1c.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
12g.47974208G>ACA479450197COL2A1c.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=)
12g.47974208G>CCA384533646COL2A1c.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)
12g.47974208G>TCA384533647COL2A1c.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)
12g.47974209A=CA2034471737COL2A1c.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=)
12g.47974209A>CCA384533648COL2A1c.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)
12g.47974209A>GCA479450198COL2A1c.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
12g.47974209A>TCA384533649COL2A1c.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)
12g.47974210T>ACA384533650COL2A1c.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)
12g.47974210T>CCA384533651COL2A1c.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
12g.47974210T>GCA384533652COL2A1c.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)
12g.47974211A>CCA384533653COL2A1c.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)
12g.47974211A>GCA384533654COL2A1c.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)
12g.47974211A>TCA384533655COL2A1c.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)
12g.47974212G>ACA236516033COL2A1c.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
12g.47974212G>CCA479450199COL2A1c.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=)
12g.47974212G=CA2034471742COL2A1c.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=)
12g.47974212G>TCA479450200COL2A1c.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=)
12g.47974213G>ACA6534521COL2A1c.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
12g.47974213G>CCA384533656COL2A1c.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)
12g.47974213G=CA2034471748COL2A1c.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=)
12g.47974213G>TCA384533657COL2A1c.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)
12g.47974214C>ACA384533658COL2A1c.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)
12g.47974214C>GCA384533659COL2A1c.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)
12g.47974214C>TCA384533660COL2A1c.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)
12g.47974215A>CCA384533661COL2A1c.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)
12g.47974215A>GCA479450201COL2A1c.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=)
12g.47974215A>TCA479450202COL2A1c.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=)
12g.47974216A>CCA384533662COL2A1c.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)
12g.47974216A>GCA384533663COL2A1c.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
12g.47974216A>TCA384533664COL2A1c.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)
12g.47974217T>ACA384533665COL2A1c.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)
12g.47974217T>CCA384533666COL2A1c.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)
12g.47974217T>GCA384533667COL2A1c.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)
12g.47974218G>ACA479450203COL2A1c.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=)
12g.47974218G>CCA384533668COL2A1c.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)
12g.47974218G>TCA384533669COL2A1c.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)
12g.47974219C>ACA384533671COL2A1c.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)
12g.47974219C>GCA384533672COL2A1c.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)
12g.47974219C>TCA384533670COL2A1c.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
12g.47974220T>ACA384533674COL2A1c.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)
12g.47974220T>CCA384533673COL2A1c.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)
12g.47974220T>GCA384533675COL2A1c.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)
12g.47974221G>ACA479450204COL2A1c.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
12g.47974221G>CCA384533676COL2A1c.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)
12g.47974221G=CA2034471754COL2A1c.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=)
12g.47974221G>TCA384533677COL2A1c.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)
12g.47974222T>ACA384533678COL2A1c.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)
12g.47974222T>CCA384533680COL2A1c.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
12g.47974222T>GCA384533679COL2A1c.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)
12g.47974222T=CA2034471762COL2A1c.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=)
12g.47974223T>ACA384533681COL2A1c.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)
12g.47974223T>CCA384533682COL2A1c.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)
12g.47974223T>GCA384533683COL2A1c.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)
12g.47974224C>ACA384533684COL2A1c.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)
12g.47974224C=CA2034471769COL2A1c.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=)
12g.47974224C>GCA384533685COL2A1c.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)
12g.47974224C>TCA479450205COL2A1c.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
12g.47974225T>ACA384533686COL2A1c.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)
12g.47974225T>CCA384533687COL2A1c.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)
12g.47974225T>GCA384533688COL2A1c.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)
12g.47974226T>ACA384533689COL2A1c.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)
12g.47974226T>CCA236516043COL2A1c.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
12g.47974226T>GCA384533690COL2A1c.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)
12g.47974226T=CA2034471772COL2A1c.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=)
12g.47974227G>ACA479450206COL2A1c.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=)
12g.47974227G>CCA384533692COL2A1c.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)
12g.47974227G>TCA384533691COL2A1c.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)
12g.47974228C>ACA384533693COL2A1c.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)
12g.47974228C>GCA384533694COL2A1c.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)
12g.47974228C>TCA384533695COL2A1c.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
12g.47974229A>CCA384533696COL2A1c.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
12g.47974229A>GCA384533697COL2A1c.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)
12g.47974229A>TCA384533698COL2A1c.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)
12g.47974230G>ACA479450207COL2A1c.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=)
12g.47974230G>CCA384533699COL2A1c.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)
12g.47974230G>TCA384533700COL2A1c.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)
12g.47974231_47974232dupCA2697559172COL2A1c.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
12g.47974231T>ACA384533701COL2A1c.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)
12g.47974231T>CCA384533702COL2A1c.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)
12g.47974231T>GCA384533703COL2A1c.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)
12g.47974232G>ACA384533705COL2A1c.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)
12g.47974232G>CCA384533706COL2A1c.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)
12g.47974232G>TCA384533704COL2A1c.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)
12g.47974233G>ACA479450208COL2A1c.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
12g.47974233G>CCA384533707COL2A1c.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)
12g.47974233G=CA2034471775COL2A1c.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=)
12g.47974233G>TCA384533708COL2A1c.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)
12g.47974234T>ACA384533709COL2A1c.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)
12g.47974234T>CCA127170COL2A1c.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
12g.47974234T>GCA384533710COL2A1c.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)
12g.47974234T=CA2034471783COL2A1c.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=)
12g.47974235A>CCA384533711COL2A1c.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)
12g.47974235A>GCA384533712COL2A1c.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
12g.47974235A>TCA384533713COL2A1c.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)
12g.47974236G>ACA236516075COL2A1c.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
12g.47974236G>CCA479450209COL2A1c.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=)
12g.47974236G=CA2034471787COL2A1c.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=)
12g.47974236G>TCA479450210COL2A1c.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=)
12g.47974237G>ACA384533714COL2A1c.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
12g.47974237G>CCA384533715COL2A1c.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)
12g.47974237G=CA2034471792COL2A1c.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=)
12g.47974237G>TCA384533716COL2A1c.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)
12g.47974237_47974240delinsGTGACA2034471790COL2A1c.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=)
12g.47974238T>ACA384533718COL2A1c.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)
12g.47974238T>CCA384533719COL2A1c.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)
12g.47974238T>GCA384533717COL2A1c.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
12g.47974238T=CA2034471799COL2A1c.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=)
12g.47974240_47974242delCA16619524COL2A1c.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
12g.47974239delCA645509035COL2A1c.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?)
12g.47974239G>ACA479450212COL2A1c.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=)
12g.47974239G>CCA384533720COL2A1c.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)
12g.47974239G>TCA479450211COL2A1c.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=)
12g.47974240A=CA2034471803COL2A1c.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=)
12g.47974240A>CCA384533721COL2A1c.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)
12g.47974240A>GCA384533722COL2A1c.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
12g.47974240A>TCA384533723COL2A1c.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)
12g.47974241T>ACA384533726COL2A1c.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)
12g.47974241T>CCA384533725COL2A1c.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
12g.47974241T>GCA384533724COL2A1c.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)
12g.47974241T=CA2034471807COL2A1c.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=)
12g.47974243_47974247delCA2695216611COL2A1c.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)
12g.47974242G>ACA6534522COL2A1c.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
12g.47974242G>CCA384533727COL2A1c.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
12g.47974242G=CA2034471811COL2A1c.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=)
12g.47974242G>TCA384533728COL2A1c.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)
12g.47974243T>ACA384533729COL2A1c.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
12g.47974243T>CCA384533730COL2A1c.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)
12g.47974243T>GCA384533731COL2A1c.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)
12g.47974244T>ACA384533734COL2A1c.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)
12g.47974244T>CCA384533733COL2A1c.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)
12g.47974244T>GCA384533732COL2A1c.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)
12g.47974245C>ACA384533735COL2A1c.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)
12g.47974245C>GCA384533736COL2A1c.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)
12g.47974245C>TCA479450213COL2A1c.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=)
12g.47974246T>ACA384533737COL2A1c.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)
12g.47974246T>CCA384533738COL2A1c.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)
12g.47974246T>GCA384533739COL2A1c.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)
12g.47974247G>ACA384533742COL2A1c.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
12g.47974247G>CCA384533741COL2A1c.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)
12g.47974247G>TCA384533740COL2A1c.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)
12g.47974248G>ACA479450214COL2A1c.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=)
12g.47974248G>CCA479450215COL2A1c.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
12g.47974248G>TCA479450216COL2A1c.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=)
12g.47974249G>ACA384533743COL2A1c.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)
12g.47974249G>CCA384533744COL2A1c.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)
12g.47974249G=CA2034471814COL2A1c.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=)
12g.47974249G>TCA384533745COL2A1c.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
12g.47974250A>CCA384533746COL2A1c.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)
12g.47974250A>GCA384533747COL2A1c.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)
12g.47974250A>TCA384533748COL2A1c.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)
12g.47974251G>ACA479450217COL2A1c.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=)
12g.47974251G>CCA479450218COL2A1c.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=)
12g.47974251G>TCA479450219COL2A1c.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=)
12g.47974252C>ACA384533750COL2A1c.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)
12g.47974252C=CA2034471819COL2A1c.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=)
12g.47974252C>GCA6534523COL2A1c.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
12g.47974252C>TCA384533749COL2A1c.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
12g.47974253C>ACA384533751COL2A1c.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)
12g.47974253C>GCA384533752COL2A1c.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)
12g.47974253C>TCA384533753COL2A1c.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)
12g.47974254T>ACA384533754COL2A1c.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)
12g.47974254T>CCA479450220COL2A1c.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
12g.47974254T>GCA384533755COL2A1c.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)
12g.47974254T=CA2034471824COL2A1c.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=)
12g.47974255delCA2695216612COL2A1c.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?)
12g.47974255T>ACA384533756COL2A1c.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)
12g.47974255T>CCA384533757COL2A1c.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)
12g.47974255T>GCA384533758COL2A1c.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)
12g.47974256C>ACA384533759COL2A1c.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)
12g.47974256C=CA2034471827COL2A1c.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=)
12g.47974256C>GCA384533760COL2A1c.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)
12g.47974256C>TCA384533761COL2A1c.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
12g.47974257C>ACA479450221COL2A1c.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
12g.47974257C=CA2034471833COL2A1c.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=)
12g.47974257C>GCA479450222COL2A1c.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=)
12g.47974257C>TCA6534524COL2A1c.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
12g.47974258G>ACA128528COL2A1c.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
12g.47974258G>CCA384533763COL2A1c.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)
12g.47974258G=CA2034471841COL2A1c.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=)
12g.47974258G>TCA384533762COL2A1c.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)
12g.47974259T>ACA384533764COL2A1c.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)
12g.47974259T>CCA384533765COL2A1c.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)
12g.47974259T>GCA384533766COL2A1c.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)
12g.47974260G>ACA479450224COL2A1c.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
12g.47974260G>CCA6534525COL2A1c.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
12g.47974260G=CA2034471847COL2A1c.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=)
12g.47974260G>TCA479450223COL2A1c.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=)
12g.47974261G>ACA384533767COL2A1c.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)
12g.47974261G>CCA384533768COL2A1c.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)
12g.47974261G>TCA384533769COL2A1c.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)
12g.47974262A>CCA384533770COL2A1c.3937T>G (p.Ser1313Ala)
c.4144T>G (p.Ser1382Ala)
n.3230T>G
c.4288T>G (p.Ser1430Ala)
c.4285T>G (p.Ser1429Ala)
c.3232T>G (p.Ser1078Ala)
c.4078T>G (p.Ser1360Ala)
c.3598T>G (p.Ser1200Ala)
12g.47974262A>GCA384533771COL2A1c.3937T>C (p.Ser1313Pro)
c.4144T>C (p.Ser1382Pro)
n.3230T>C
c.4288T>C (p.Ser1430Pro)
c.4285T>C (p.Ser1429Pro)
c.3232T>C (p.Ser1078Pro)
c.4078T>C (p.Ser1360Pro)
c.3598T>C (p.Ser1200Pro)
12g.47974262A>TCA384533772COL2A1c.3937T>A (p.Ser1313Thr)
c.4144T>A (p.Ser1382Thr)
n.3230T>A
c.4288T>A (p.Ser1430Thr)
c.4285T>A (p.Ser1429Thr)
c.3232T>A (p.Ser1078Thr)
c.4078T>A (p.Ser1360Thr)
c.3598T>A (p.Ser1200Thr)
12g.47974263C>ACA479450225COL2A1c.3936G>T (p.Leu1312=)
c.4143G>T (p.Leu1381=)
n.3229G>T
c.4287G>T (p.Leu1429=)
c.4284G>T (p.Leu1428=)
c.3231G>T (p.Leu1077=)
c.4077G>T (p.Leu1359=)
c.3597G>T (p.Leu1199=)
 dbSNP
12g.47974263C>GCA479450227COL2A1c.3936G>C (p.Leu1312=)
c.4143G>C (p.Leu1381=)
n.3229G>C
c.4287G>C (p.Leu1429=)
c.4284G>C (p.Leu1428=)
c.3231G>C (p.Leu1077=)
c.4077G>C (p.Leu1359=)
c.3597G>C (p.Leu1199=)
12g.47974263C>TCA479450228COL2A1c.3936G>A (p.Leu1312=)
c.4143G>A (p.Leu1381=)
n.3229G>A
c.4287G>A (p.Leu1429=)
c.4284G>A (p.Leu1428=)
c.3231G>A (p.Leu1077=)
c.4077G>A (p.Leu1359=)
c.3597G>A (p.Leu1199=)
 ClinVar dbSNP
12g.47974263_47974264insTCTACGTCCGTGGCA2580085611COL2A1c.3935_3936insCCACGGACGTAGA (p.Ser1313HisfsTer?)
c.4142_4143insCCACGGACGTAGA (p.Ser1382HisfsTer?)
n.3228_3229insCCACGGACGTAGA
c.4286_4287insCCACGGACGTAGA (p.Ser1430HisfsTer?)
c.4283_4284insCCACGGACGTAGA (p.Ser1429HisfsTer?)
c.3230_3231insCCACGGACGTAGA (p.Ser1078HisfsTer?)
c.4076_4077insCCACGGACGTAGA (p.Ser1360HisfsTer?)
c.3596_3597insCCACGGACGTAGA (p.Ser1200HisfsTer?)
 ClinVar
12g.47974264A>CCA384533773COL2A1c.3935T>G (p.Leu1312Arg)
c.4142T>G (p.Leu1381Arg)
n.3228T>G
c.4286T>G (p.Leu1429Arg)
c.4283T>G (p.Leu1428Arg)
c.3230T>G (p.Leu1077Arg)
c.4076T>G (p.Leu1359Arg)
c.3596T>G (p.Leu1199Arg)
12g.47974264A>GCA384533774COL2A1c.3935T>C (p.Leu1312Pro)
c.4142T>C (p.Leu1381Pro)
n.3228T>C
c.4286T>C (p.Leu1429Pro)
c.4283T>C (p.Leu1428Pro)
c.3230T>C (p.Leu1077Pro)
c.4076T>C (p.Leu1359Pro)
c.3596T>C (p.Leu1199Pro)
12g.47974264A>TCA384533775COL2A1c.3935T>A (p.Leu1312Gln)
c.4142T>A (p.Leu1381Gln)
n.3228T>A
c.4286T>A (p.Leu1429Gln)
c.4283T>A (p.Leu1428Gln)
c.3230T>A (p.Leu1077Gln)
c.4076T>A (p.Leu1359Gln)
c.3596T>A (p.Leu1199Gln)
12g.47974265G>ACA6534526COL2A1c.3934C>T (p.Leu1312=)
c.4141C>T (p.Leu1381=)
n.3227C>T
c.4285C>T (p.Leu1429=)
c.4282C>T (p.Leu1428=)
c.3229C>T (p.Leu1077=)
c.4075C>T (p.Leu1359=)
c.3595C>T (p.Leu1199=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974265G>CCA384533777COL2A1c.3934C>G (p.Leu1312Val)
c.4141C>G (p.Leu1381Val)
n.3227C>G
c.4285C>G (p.Leu1429Val)
c.4282C>G (p.Leu1428Val)
c.3229C>G (p.Leu1077Val)
c.4075C>G (p.Leu1359Val)
c.3595C>G (p.Leu1199Val)
12g.47974265G=CA2034471850COL2A1c.3934C= (p.Leu1312=)
c.4141C= (p.Leu1381=)
n.3227C=
c.4285C= (p.Leu1429=)
c.4282C= (p.Leu1428=)
c.3229C= (p.Leu1077=)
c.4075C= (p.Leu1359=)
c.3595C= (p.Leu1199=)
12g.47974265G>TCA384533776COL2A1c.3934C>A (p.Leu1312Met)
c.4141C>A (p.Leu1381Met)
n.3227C>A
c.4285C>A (p.Leu1429Met)
c.4282C>A (p.Leu1428Met)
c.3229C>A (p.Leu1077Met)
c.4075C>A (p.Leu1359Met)
c.3595C>A (p.Leu1199Met)
12g.47974266delCA2695216613COL2A1c.3933del (p.Leu1312CysfsTer?)
c.4140del (p.Leu1381CysfsTer?)
n.3226del
c.4284del (p.Leu1429CysfsTer?)
c.4281del (p.Leu1428CysfsTer?)
c.3228del (p.Leu1077CysfsTer?)
c.4074del (p.Leu1359CysfsTer?)
c.3594del (p.Leu1199CysfsTer?)
12g.47974266C>ACA479450229COL2A1c.3933G>T (p.Leu1311=)
c.4140G>T (p.Leu1380=)
n.3226G>T
c.4284G>T (p.Leu1428=)
c.4281G>T (p.Leu1427=)
c.3228G>T (p.Leu1076=)
c.4074G>T (p.Leu1358=)
c.3594G>T (p.Leu1198=)
12g.47974266C>GCA479450230COL2A1c.3933G>C (p.Leu1311=)
c.4140G>C (p.Leu1380=)
n.3226G>C
c.4284G>C (p.Leu1428=)
c.4281G>C (p.Leu1427=)
c.3228G>C (p.Leu1076=)
c.4074G>C (p.Leu1358=)
c.3594G>C (p.Leu1198=)
12g.47974266C>TCA479450231COL2A1c.3933G>A (p.Leu1311=)
c.4140G>A (p.Leu1380=)
n.3226G>A
c.4284G>A (p.Leu1428=)
c.4281G>A (p.Leu1427=)
c.3228G>A (p.Leu1076=)
c.4074G>A (p.Leu1358=)
c.3594G>A (p.Leu1198=)
12g.47974267A>CCA384533778COL2A1c.3932T>G (p.Leu1311Arg)
c.4139T>G (p.Leu1380Arg)
n.3225T>G
c.4283T>G (p.Leu1428Arg)
c.4280T>G (p.Leu1427Arg)
c.3227T>G (p.Leu1076Arg)
c.4073T>G (p.Leu1358Arg)
c.3593T>G (p.Leu1198Arg)
12g.47974267A>GCA384533779COL2A1c.3932T>C (p.Leu1311Pro)
c.4139T>C (p.Leu1380Pro)
n.3225T>C
c.4283T>C (p.Leu1428Pro)
c.4280T>C (p.Leu1427Pro)
c.3227T>C (p.Leu1076Pro)
c.4073T>C (p.Leu1358Pro)
c.3593T>C (p.Leu1198Pro)
12g.47974267A>TCA384533780COL2A1c.3932T>A (p.Leu1311Gln)
c.4139T>A (p.Leu1380Gln)
n.3225T>A
c.4283T>A (p.Leu1428Gln)
c.4280T>A (p.Leu1427Gln)
c.3227T>A (p.Leu1076Gln)
c.4073T>A (p.Leu1358Gln)
c.3593T>A (p.Leu1198Gln)
12g.47974268G>ACA479450232COL2A1c.3931C>T (p.Leu1311=)
c.4138C>T (p.Leu1380=)
n.3224C>T
c.4282C>T (p.Leu1428=)
c.4279C>T (p.Leu1427=)
c.3226C>T (p.Leu1076=)
c.4072C>T (p.Leu1358=)
c.3592C>T (p.Leu1198=)
12g.47974268G>CCA384533781COL2A1c.3931C>G (p.Leu1311Val)
c.4138C>G (p.Leu1380Val)
n.3224C>G
c.4282C>G (p.Leu1428Val)
c.4279C>G (p.Leu1427Val)
c.3226C>G (p.Leu1076Val)
c.4072C>G (p.Leu1358Val)
c.3592C>G (p.Leu1198Val)
12g.47974268G>TCA384533782COL2A1c.3931C>A (p.Leu1311Met)
c.4138C>A (p.Leu1380Met)
n.3224C>A
c.4282C>A (p.Leu1428Met)
c.4279C>A (p.Leu1427Met)
c.3226C>A (p.Leu1076Met)
c.4072C>A (p.Leu1358Met)
c.3592C>A (p.Leu1198Met)
12g.47974269G>ACA479450233COL2A1c.3930C>T (p.Arg1310=)
c.4137C>T (p.Arg1379=)
n.3223C>T
c.4281C>T (p.Arg1427=)
c.4278C>T (p.Arg1426=)
c.3225C>T (p.Arg1075=)
c.4071C>T (p.Arg1357=)
c.3591C>T (p.Arg1197=)
 ClinVar dbSNP gnomAD v4
12g.47974269G>CCA479450234COL2A1c.3930C>G (p.Arg1310=)
c.4137C>G (p.Arg1379=)
n.3223C>G
c.4281C>G (p.Arg1427=)
c.4278C>G (p.Arg1426=)
c.3225C>G (p.Arg1075=)
c.4071C>G (p.Arg1357=)
c.3591C>G (p.Arg1197=)
12g.47974269G>TCA479450235COL2A1c.3930C>A (p.Arg1310=)
c.4137C>A (p.Arg1379=)
n.3223C>A
c.4281C>A (p.Arg1427=)
c.4278C>A (p.Arg1426=)
c.3225C>A (p.Arg1075=)
c.4071C>A (p.Arg1357=)
c.3591C>A (p.Arg1197=)
12g.47974270C>ACA384533783COL2A1c.3929G>T (p.Arg1310Leu)
c.4136G>T (p.Arg1379Leu)
n.3222G>T
c.4280G>T (p.Arg1427Leu)
c.4277G>T (p.Arg1426Leu)
c.3224G>T (p.Arg1075Leu)
c.4070G>T (p.Arg1357Leu)
c.3590G>T (p.Arg1197Leu)
12g.47974270C=CA2034471855COL2A1c.3929G= (p.Arg1310=)
c.4136G= (p.Arg1379=)
n.3222G=
c.4280G= (p.Arg1427=)
c.4277G= (p.Arg1426=)
c.3224G= (p.Arg1075=)
c.4070G= (p.Arg1357=)
c.3590G= (p.Arg1197=)
12g.47974270C>GCA384533784COL2A1c.3929G>C (p.Arg1310Pro)
c.4136G>C (p.Arg1379Pro)
n.3222G>C
c.4280G>C (p.Arg1427Pro)
c.4277G>C (p.Arg1426Pro)
c.3224G>C (p.Arg1075Pro)
c.4070G>C (p.Arg1357Pro)
c.3590G>C (p.Arg1197Pro)
12g.47974270C>TCA6534527COL2A1c.3929G>A (p.Arg1310His)
c.4136G>A (p.Arg1379His)
n.3222G>A
c.4280G>A (p.Arg1427His)
c.4277G>A (p.Arg1426His)
c.3224G>A (p.Arg1075His)
c.4070G>A (p.Arg1357His)
c.3590G>A (p.Arg1197His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974271G>ACA6534529COL2A1c.3928C>T (p.Arg1310Cys)
c.4135C>T (p.Arg1379Cys)
n.3221C>T
c.4279C>T (p.Arg1427Cys)
c.4276C>T (p.Arg1426Cys)
c.3223C>T (p.Arg1075Cys)
c.4069C>T (p.Arg1357Cys)
c.3589C>T (p.Arg1197Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974271G>CCA384533785COL2A1c.3928C>G (p.Arg1310Gly)
c.4135C>G (p.Arg1379Gly)
n.3221C>G
c.4279C>G (p.Arg1427Gly)
c.4276C>G (p.Arg1426Gly)
c.3223C>G (p.Arg1075Gly)
c.4069C>G (p.Arg1357Gly)
c.3589C>G (p.Arg1197Gly)
12g.47974271G=CA2034471861COL2A1c.3928C= (p.Arg1310=)
c.4135C= (p.Arg1379=)
n.3221C=
c.4279C= (p.Arg1427=)
c.4276C= (p.Arg1426=)
c.3223C= (p.Arg1075=)
c.4069C= (p.Arg1357=)
c.3589C= (p.Arg1197=)
12g.47974271G>TCA6534528COL2A1c.3928C>A (p.Arg1310Ser)
c.4135C>A (p.Arg1379Ser)
n.3221C>A
c.4279C>A (p.Arg1427Ser)
c.4276C>A (p.Arg1426Ser)
c.3223C>A (p.Arg1075Ser)
c.4069C>A (p.Arg1357Ser)
c.3589C>A (p.Arg1197Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974272T>ACA479450236COL2A1c.3927A>T (p.Leu1309=)
c.4134A>T (p.Leu1378=)
n.3220A>T
c.4278A>T (p.Leu1426=)
c.4275A>T (p.Leu1425=)
c.3222A>T (p.Leu1074=)
c.4068A>T (p.Leu1356=)
c.3588A>T (p.Leu1196=)
12g.47974272T>CCA479450238COL2A1c.3927A>G (p.Leu1309=)
c.4134A>G (p.Leu1378=)
n.3220A>G
c.4278A>G (p.Leu1426=)
c.4275A>G (p.Leu1425=)
c.3222A>G (p.Leu1074=)
c.4068A>G (p.Leu1356=)
c.3588A>G (p.Leu1196=)
 dbSNP gnomAD v2 gnomAD v4
12g.47974272T>GCA479450237COL2A1c.3927A>C (p.Leu1309=)
c.4134A>C (p.Leu1378=)
n.3220A>C
c.4278A>C (p.Leu1426=)
c.4275A>C (p.Leu1425=)
c.3222A>C (p.Leu1074=)
c.4068A>C (p.Leu1356=)
c.3588A>C (p.Leu1196=)
12g.47974272T=CA2034471867COL2A1c.3927A= (p.Leu1309=)
c.4134A= (p.Leu1378=)
n.3220A=
c.4278A= (p.Leu1426=)
c.4275A= (p.Leu1425=)
c.3222A= (p.Leu1074=)
c.4068A= (p.Leu1356=)
c.3588A= (p.Leu1196=)
12g.47974272dupCA2695216614COL2A1c.3927dup (p.Arg1310ThrfsTer?)
c.4134dup (p.Arg1379ThrfsTer?)
n.3220dup
c.4278dup (p.Arg1427ThrfsTer?)
c.4275dup (p.Arg1426ThrfsTer?)
c.3222dup (p.Arg1075ThrfsTer?)
c.4068dup (p.Arg1357ThrfsTer?)
c.3588dup (p.Arg1197ThrfsTer?)
12g.47974273A>CCA384533787COL2A1c.3926T>G (p.Leu1309Arg)
c.4133T>G (p.Leu1378Arg)
n.3219T>G
c.4277T>G (p.Leu1426Arg)
c.4274T>G (p.Leu1425Arg)
c.3221T>G (p.Leu1074Arg)
c.4067T>G (p.Leu1356Arg)
c.3587T>G (p.Leu1196Arg)
12g.47974273A>GCA384533788COL2A1c.3926T>C (p.Leu1309Pro)
c.4133T>C (p.Leu1378Pro)
n.3219T>C
c.4277T>C (p.Leu1426Pro)
c.4274T>C (p.Leu1425Pro)
c.3221T>C (p.Leu1074Pro)
c.4067T>C (p.Leu1356Pro)
c.3587T>C (p.Leu1196Pro)
12g.47974273A>TCA384533786COL2A1c.3926T>A (p.Leu1309Gln)
c.4133T>A (p.Leu1378Gln)
n.3219T>A
c.4277T>A (p.Leu1426Gln)
c.4274T>A (p.Leu1425Gln)
c.3221T>A (p.Leu1074Gln)
c.4067T>A (p.Leu1356Gln)
c.3587T>A (p.Leu1196Gln)
 ClinVar dbSNP
12g.47974274G>ACA479450239COL2A1c.3925C>T (p.Leu1309=)
c.4132C>T (p.Leu1378=)
n.3218C>T
c.4276C>T (p.Leu1426=)
c.4273C>T (p.Leu1425=)
c.3220C>T (p.Leu1074=)
c.4066C>T (p.Leu1356=)
c.3586C>T (p.Leu1196=)
 dbSNP
12g.47974274G>CCA384533790COL2A1c.3925C>G (p.Leu1309Val)
c.4132C>G (p.Leu1378Val)
n.3218C>G
c.4276C>G (p.Leu1426Val)
c.4273C>G (p.Leu1425Val)
c.3220C>G (p.Leu1074Val)
c.4066C>G (p.Leu1356Val)
c.3586C>G (p.Leu1196Val)
12g.47974274G=CA2034471871COL2A1c.3925C= (p.Leu1309=)
c.4132C= (p.Leu1378=)
n.3218C=
c.4276C= (p.Leu1426=)
c.4273C= (p.Leu1425=)
c.3220C= (p.Leu1074=)
c.4066C= (p.Leu1356=)
c.3586C= (p.Leu1196=)
12g.47974274G>TCA384533789COL2A1c.3925C>A (p.Leu1309Ile)
c.4132C>A (p.Leu1378Ile)
n.3218C>A
c.4276C>A (p.Leu1426Ile)
c.4273C>A (p.Leu1425Ile)
c.3220C>A (p.Leu1074Ile)
c.4066C>A (p.Leu1356Ile)
c.3586C>A (p.Leu1196Ile)
 COSMIC COSMIC
12g.47974275G>ACA236516100COL2A1c.3924C>T (p.Phe1308=)
c.4131C>T (p.Phe1377=)
n.3217C>T
c.4275C>T (p.Phe1425=)
c.4272C>T (p.Phe1424=)
c.3219C>T (p.Phe1073=)
c.4065C>T (p.Phe1355=)
c.3585C>T (p.Phe1195=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.47974275G>CCA6534530COL2A1c.3924C>G (p.Phe1308Leu)
c.4131C>G (p.Phe1377Leu)
n.3217C>G
c.4275C>G (p.Phe1425Leu)
c.4272C>G (p.Phe1424Leu)
c.3219C>G (p.Phe1073Leu)
c.4065C>G (p.Phe1355Leu)
c.3585C>G (p.Phe1195Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974275G=CA2034471875COL2A1c.3924C= (p.Phe1308=)
c.4131C= (p.Phe1377=)
n.3217C=
c.4275C= (p.Phe1425=)
c.4272C= (p.Phe1424=)
c.3219C= (p.Phe1073=)
c.4065C= (p.Phe1355=)
c.3585C= (p.Phe1195=)
12g.47974275G>TCA384533791COL2A1c.3924C>A (p.Phe1308Leu)
c.4131C>A (p.Phe1377Leu)
n.3217C>A
c.4275C>A (p.Phe1425Leu)
c.4272C>A (p.Phe1424Leu)
c.3219C>A (p.Phe1073Leu)
c.4065C>A (p.Phe1355Leu)
c.3585C>A (p.Phe1195Leu)
12g.47974276A=CA2034471880COL2A1c.3923T= (p.Phe1308=)
c.4130T= (p.Phe1377=)
n.3216T=
c.4274T= (p.Phe1425=)
c.4271T= (p.Phe1424=)
c.3218T= (p.Phe1073=)
c.4064T= (p.Phe1355=)
c.3584T= (p.Phe1195=)
12g.47974276A>CCA384533792COL2A1c.3923T>G (p.Phe1308Cys)
c.4130T>G (p.Phe1377Cys)
n.3216T>G
c.4274T>G (p.Phe1425Cys)
c.4271T>G (p.Phe1424Cys)
c.3218T>G (p.Phe1073Cys)
c.4064T>G (p.Phe1355Cys)
c.3584T>G (p.Phe1195Cys)
12g.47974276A>GCA384533793COL2A1c.3923T>C (p.Phe1308Ser)
c.4130T>C (p.Phe1377Ser)
n.3216T>C
c.4274T>C (p.Phe1425Ser)
c.4271T>C (p.Phe1424Ser)
c.3218T>C (p.Phe1073Ser)
c.4064T>C (p.Phe1355Ser)
c.3584T>C (p.Phe1195Ser)
 dbSNP
12g.47974276A>TCA384533794COL2A1c.3923T>A (p.Phe1308Tyr)
c.4130T>A (p.Phe1377Tyr)
n.3216T>A
c.4274T>A (p.Phe1425Tyr)
c.4271T>A (p.Phe1424Tyr)
c.3218T>A (p.Phe1073Tyr)
c.4064T>A (p.Phe1355Tyr)
c.3584T>A (p.Phe1195Tyr)
12g.47974277A>CCA384533795COL2A1c.3922T>G (p.Phe1308Val)
c.4129T>G (p.Phe1377Val)
n.3215T>G
c.4273T>G (p.Phe1425Val)
c.4270T>G (p.Phe1424Val)
c.3217T>G (p.Phe1073Val)
c.4063T>G (p.Phe1355Val)
c.3583T>G (p.Phe1195Val)
12g.47974277A>GCA384533796COL2A1c.3922T>C (p.Phe1308Leu)
c.4129T>C (p.Phe1377Leu)
n.3215T>C
c.4273T>C (p.Phe1425Leu)
c.4270T>C (p.Phe1424Leu)
c.3217T>C (p.Phe1073Leu)
c.4063T>C (p.Phe1355Leu)
c.3583T>C (p.Phe1195Leu)
12g.47974277A>TCA384533797COL2A1c.3922T>A (p.Phe1308Ile)
c.4129T>A (p.Phe1377Ile)
n.3215T>A
c.4273T>A (p.Phe1425Ile)
c.4270T>A (p.Phe1424Ile)
c.3217T>A (p.Phe1073Ile)
c.4063T>A (p.Phe1355Ile)
c.3583T>A (p.Phe1195Ile)
12g.47974278G>ACA479450241COL2A1c.3921C>T (p.Thr1307=)
c.4128C>T (p.Thr1376=)
n.3214C>T
c.4272C>T (p.Thr1424=)
c.4269C>T (p.Thr1423=)
c.3216C>T (p.Thr1072=)
c.4062C>T (p.Thr1354=)
c.3582C>T (p.Thr1194=)
12g.47974278G>CCA479450242COL2A1c.3921C>G (p.Thr1307=)
c.4128C>G (p.Thr1376=)
n.3214C>G
c.4272C>G (p.Thr1424=)
c.4269C>G (p.Thr1423=)
c.3216C>G (p.Thr1072=)
c.4062C>G (p.Thr1354=)
c.3582C>G (p.Thr1194=)
12g.47974278G>TCA479450243COL2A1c.3921C>A (p.Thr1307=)
c.4128C>A (p.Thr1376=)
n.3214C>A
c.4272C>A (p.Thr1424=)
c.4269C>A (p.Thr1423=)
c.3216C>A (p.Thr1072=)
c.4062C>A (p.Thr1354=)
c.3582C>A (p.Thr1194=)
12g.47974278_47974279dupCA2739271939COL2A1c.3920_3921dup (p.Phe1308ProfsTer?)
c.4127_4128dup (p.Phe1377ProfsTer?)
n.3213_3214dup
c.4271_4272dup (p.Phe1425ProfsTer?)
c.4268_4269dup (p.Phe1424ProfsTer?)
c.3215_3216dup (p.Phe1073ProfsTer?)
c.4061_4062dup (p.Phe1355ProfsTer?)
c.3581_3582dup (p.Phe1195ProfsTer?)
 ClinVar
12g.47974279G>ACA384533798COL2A1c.3920C>T (p.Thr1307Ile)
c.4127C>T (p.Thr1376Ile)
n.3213C>T
c.4271C>T (p.Thr1424Ile)
c.4268C>T (p.Thr1423Ile)
c.3215C>T (p.Thr1072Ile)
c.4061C>T (p.Thr1354Ile)
c.3581C>T (p.Thr1194Ile)
 dbSNP
12g.47974279G>CCA384533799COL2A1c.3920C>G (p.Thr1307Ser)
c.4127C>G (p.Thr1376Ser)
n.3213C>G
c.4271C>G (p.Thr1424Ser)
c.4268C>G (p.Thr1423Ser)
c.3215C>G (p.Thr1072Ser)
c.4061C>G (p.Thr1354Ser)
c.3581C>G (p.Thr1194Ser)
 dbSNP
12g.47974279G=CA2034471884COL2A1c.3920C= (p.Thr1307=)
c.4127C= (p.Thr1376=)
n.3213C=
c.4271C= (p.Thr1424=)
c.4268C= (p.Thr1423=)
c.3215C= (p.Thr1072=)
c.4061C= (p.Thr1354=)
c.3581C= (p.Thr1194=)
12g.47974279G>TCA384533800COL2A1c.3920C>A (p.Thr1307Asn)
c.4127C>A (p.Thr1376Asn)
n.3213C>A
c.4271C>A (p.Thr1424Asn)
c.4268C>A (p.Thr1423Asn)
c.3215C>A (p.Thr1072Asn)
c.4061C>A (p.Thr1354Asn)
c.3581C>A (p.Thr1194Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47974280T>ACA384533803COL2A1c.3919A>T (p.Thr1307Ser)
c.4126A>T (p.Thr1376Ser)
n.3212A>T
c.4270A>T (p.Thr1424Ser)
c.4267A>T (p.Thr1423Ser)
c.3214A>T (p.Thr1072Ser)
c.4060A>T (p.Thr1354Ser)
c.3580A>T (p.Thr1194Ser)
12g.47974280T>CCA384533802COL2A1c.3919A>G (p.Thr1307Ala)
c.4126A>G (p.Thr1376Ala)
n.3212A>G
c.4270A>G (p.Thr1424Ala)
c.4267A>G (p.Thr1423Ala)
c.3214A>G (p.Thr1072Ala)
c.4060A>G (p.Thr1354Ala)
c.3580A>G (p.Thr1194Ala)
12g.47974280T>GCA384533801COL2A1c.3919A>C (p.Thr1307Pro)
c.4126A>C (p.Thr1376Pro)
n.3212A>C
c.4270A>C (p.Thr1424Pro)
c.4267A>C (p.Thr1423Pro)
c.3214A>C (p.Thr1072Pro)
c.4060A>C (p.Thr1354Pro)
c.3580A>C (p.Thr1194Pro)
12g.47974281C>ACA384533804COL2A1c.3918G>T (p.Met1306Ile)
c.4125G>T (p.Met1375Ile)
n.3211G>T
c.4269G>T (p.Met1423Ile)
c.4266G>T (p.Met1422Ile)
c.3213G>T (p.Met1071Ile)
c.4059G>T (p.Met1353Ile)
c.3579G>T (p.Met1193Ile)
 gnomAD v4
12g.47974281C>GCA384533805COL2A1c.3918G>C (p.Met1306Ile)
c.4125G>C (p.Met1375Ile)
n.3211G>C
c.4269G>C (p.Met1423Ile)
c.4266G>C (p.Met1422Ile)
c.3213G>C (p.Met1071Ile)
c.4059G>C (p.Met1353Ile)
c.3579G>C (p.Met1193Ile)
12g.47974281C>TCA384533806COL2A1c.3918G>A (p.Met1306Ile)
c.4125G>A (p.Met1375Ile)
n.3211G>A
c.4269G>A (p.Met1423Ile)
c.4266G>A (p.Met1422Ile)
c.3213G>A (p.Met1071Ile)
c.4059G>A (p.Met1353Ile)
c.3579G>A (p.Met1193Ile)
12g.47974282A>CCA384533807COL2A1c.3917T>G (p.Met1306Arg)
c.4124T>G (p.Met1375Arg)
n.3210T>G
c.4268T>G (p.Met1423Arg)
c.4265T>G (p.Met1422Arg)
c.3212T>G (p.Met1071Arg)
c.4058T>G (p.Met1353Arg)
c.3578T>G (p.Met1193Arg)
12g.47974282A>GCA384533808COL2A1c.3917T>C (p.Met1306Thr)
c.4124T>C (p.Met1375Thr)
n.3210T>C
c.4268T>C (p.Met1423Thr)
c.4265T>C (p.Met1422Thr)
c.3212T>C (p.Met1071Thr)
c.4058T>C (p.Met1353Thr)
c.3578T>C (p.Met1193Thr)
 ClinVar
12g.47974282A>TCA384533810COL2A1c.3917T>A (p.Met1306Lys)
c.4124T>A (p.Met1375Lys)
n.3210T>A
c.4268T>A (p.Met1423Lys)
c.4265T>A (p.Met1422Lys)
c.3212T>A (p.Met1071Lys)
c.4058T>A (p.Met1353Lys)
c.3578T>A (p.Met1193Lys)
 dbSNP
12g.47974283T>ACA384533813COL2A1c.3916A>T (p.Met1306Leu)
c.4123A>T (p.Met1375Leu)
n.3209A>T
c.4267A>T (p.Met1423Leu)
c.4264A>T (p.Met1422Leu)
c.3211A>T (p.Met1071Leu)
c.4057A>T (p.Met1353Leu)
c.3577A>T (p.Met1193Leu)
12g.47974283T>CCA384533814COL2A1c.3916A>G (p.Met1306Val)
c.4123A>G (p.Met1375Val)
n.3209A>G
c.4267A>G (p.Met1423Val)
c.4264A>G (p.Met1422Val)
c.3211A>G (p.Met1071Val)
c.4057A>G (p.Met1353Val)
c.3577A>G (p.Met1193Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47974283T>GCA384533815COL2A1c.3916A>C (p.Met1306Leu)
c.4123A>C (p.Met1375Leu)
n.3209A>C
c.4267A>C (p.Met1423Leu)
c.4264A>C (p.Met1422Leu)
c.3211A>C (p.Met1071Leu)
c.4057A>C (p.Met1353Leu)
c.3577A>C (p.Met1193Leu)
12g.47974283T=CA2034471890COL2A1c.3916A= (p.Met1306=)
c.4123A= (p.Met1375=)
n.3209A=
c.4267A= (p.Met1423=)
c.4264A= (p.Met1422=)
c.3211A= (p.Met1071=)
c.4057A= (p.Met1353=)
c.3577A= (p.Met1193=)
12g.47974284C>ACA384533818COL2A1c.3915G>T (p.Gln1305His)
c.4122G>T (p.Gln1374His)
n.3208G>T
c.4266G>T (p.Gln1422His)
c.4263G>T (p.Gln1421His)
c.3210G>T (p.Gln1070His)
c.4056G>T (p.Gln1352His)
c.3576G>T (p.Gln1192His)
12g.47974284C=CA2034471893COL2A1c.3915G= (p.Gln1305=)
c.4122G= (p.Gln1374=)
n.3208G=
c.4266G= (p.Gln1422=)
c.4263G= (p.Gln1421=)
c.3210G= (p.Gln1070=)
c.4056G= (p.Gln1352=)
c.3576G= (p.Gln1192=)
12g.47974284C>GCA384533821COL2A1c.3915G>C (p.Gln1305His)
c.4122G>C (p.Gln1374His)
n.3208G>C
c.4266G>C (p.Gln1422His)
c.4263G>C (p.Gln1421His)
c.3210G>C (p.Gln1070His)
c.4056G>C (p.Gln1352His)
c.3576G>C (p.Gln1192His)
12g.47974284C>TCA479450249COL2A1c.3915G>A (p.Gln1305=)
c.4122G>A (p.Gln1374=)
n.3208G>A
c.4266G>A (p.Gln1422=)
c.4263G>A (p.Gln1421=)
c.3210G>A (p.Gln1070=)
c.4056G>A (p.Gln1352=)
c.3576G>A (p.Gln1192=)
 dbSNP gnomAD v2
12g.47974285T>ACA384533823COL2A1c.3914A>T (p.Gln1305Leu)
c.4121A>T (p.Gln1374Leu)
n.3207A>T
c.4265A>T (p.Gln1422Leu)
c.4262A>T (p.Gln1421Leu)
c.3209A>T (p.Gln1070Leu)
c.4055A>T (p.Gln1352Leu)
c.3575A>T (p.Gln1192Leu)
 ClinVar
12g.47974285T>CCA384533825COL2A1c.3914A>G (p.Gln1305Arg)
c.4121A>G (p.Gln1374Arg)
n.3207A>G
c.4265A>G (p.Gln1422Arg)
c.4262A>G (p.Gln1421Arg)
c.3209A>G (p.Gln1070Arg)
c.4055A>G (p.Gln1352Arg)
c.3575A>G (p.Gln1192Arg)
12g.47974285T>GCA384533827COL2A1c.3914A>C (p.Gln1305Pro)
c.4121A>C (p.Gln1374Pro)
n.3207A>C
c.4265A>C (p.Gln1422Pro)
c.4262A>C (p.Gln1421Pro)
c.3209A>C (p.Gln1070Pro)
c.4055A>C (p.Gln1352Pro)
c.3575A>C (p.Gln1192Pro)
 ClinVar
12g.47974286G>ACA384533831COL2A1c.3913C>T (p.Gln1305Ter)
c.4120C>T (p.Gln1374Ter)
n.3206C>T
c.4264C>T (p.Gln1422Ter)
c.4261C>T (p.Gln1421Ter)
c.3208C>T (p.Gln1070Ter)
c.4054C>T (p.Gln1352Ter)
c.3574C>T (p.Gln1192Ter)
12g.47974286G>CCA384533833COL2A1c.3913C>G (p.Gln1305Glu)
c.4120C>G (p.Gln1374Glu)
n.3206C>G
c.4264C>G (p.Gln1422Glu)
c.4261C>G (p.Gln1421Glu)
c.3208C>G (p.Gln1070Glu)
c.4054C>G (p.Gln1352Glu)
c.3574C>G (p.Gln1192Glu)
12g.47974286G>TCA384533829COL2A1c.3913C>A (p.Gln1305Lys)
c.4120C>A (p.Gln1374Lys)
n.3206C>A
c.4264C>A (p.Gln1422Lys)
c.4261C>A (p.Gln1421Lys)
c.3208C>A (p.Gln1070Lys)
c.4054C>A (p.Gln1352Lys)
c.3574C>A (p.Gln1192Lys)
12g.47974287G>ACA236516106COL2A1c.3912C>T (p.Val1304=)
c.4119C>T (p.Val1373=)
n.3205C>T
c.4263C>T (p.Val1421=)
c.4260C>T (p.Val1420=)
c.3207C>T (p.Val1069=)
c.4053C>T (p.Val1351=)
c.3573C>T (p.Val1191=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47974287G>CCA479450251COL2A1c.3912C>G (p.Val1304=)
c.4119C>G (p.Val1373=)
n.3205C>G
c.4263C>G (p.Val1421=)
c.4260C>G (p.Val1420=)
c.3207C>G (p.Val1069=)
c.4053C>G (p.Val1351=)
c.3573C>G (p.Val1191=)
12g.47974287G=CA2034471897COL2A1c.3912C= (p.Val1304=)
c.4119C= (p.Val1373=)
n.3205C=
c.4263C= (p.Val1421=)
c.4260C= (p.Val1420=)
c.3207C= (p.Val1069=)
c.4053C= (p.Val1351=)
c.3573C= (p.Val1191=)
12g.47974287G>TCA479450252COL2A1c.3912C>A (p.Val1304=)
c.4119C>A (p.Val1373=)
n.3205C>A
c.4263C>A (p.Val1421=)
c.4260C>A (p.Val1420=)
c.3207C>A (p.Val1069=)
c.4053C>A (p.Val1351=)
c.3573C>A (p.Val1191=)
12g.47974288A>CCA384533835COL2A1c.3911T>G (p.Val1304Gly)
c.4118T>G (p.Val1373Gly)
n.3204T>G
c.4262T>G (p.Val1421Gly)
c.4259T>G (p.Val1420Gly)
c.3206T>G (p.Val1069Gly)
c.4052T>G (p.Val1351Gly)
c.3572T>G (p.Val1191Gly)
12g.47974288A>GCA384533837COL2A1c.3911T>C (p.Val1304Ala)
c.4118T>C (p.Val1373Ala)
n.3204T>C
c.4262T>C (p.Val1421Ala)
c.4259T>C (p.Val1420Ala)
c.3206T>C (p.Val1069Ala)
c.4052T>C (p.Val1351Ala)
c.3572T>C (p.Val1191Ala)
12g.47974288A>TCA384533839COL2A1c.3911T>A (p.Val1304Asp)
c.4118T>A (p.Val1373Asp)
n.3204T>A
c.4262T>A (p.Val1421Asp)
c.4259T>A (p.Val1420Asp)
c.3206T>A (p.Val1069Asp)
c.4052T>A (p.Val1351Asp)
c.3572T>A (p.Val1191Asp)
12g.47974289C>ACA384533841COL2A1c.3910G>T (p.Val1304Phe)
c.4117G>T (p.Val1373Phe)
n.3203G>T
c.4261G>T (p.Val1421Phe)
c.4258G>T (p.Val1420Phe)
c.3205G>T (p.Val1069Phe)
c.4051G>T (p.Val1351Phe)
c.3571G>T (p.Val1191Phe)
12g.47974289C=CA2034471904COL2A1c.3910G= (p.Val1304=)
c.4117G= (p.Val1373=)
n.3203G=
c.4261G= (p.Val1421=)
c.4258G= (p.Val1420=)
c.3205G= (p.Val1069=)
c.4051G= (p.Val1351=)
c.3571G= (p.Val1191=)
12g.47974289C>GCA384533843COL2A1c.3910G>C (p.Val1304Leu)
c.4117G>C (p.Val1373Leu)
n.3203G>C
c.4261G>C (p.Val1421Leu)
c.4258G>C (p.Val1420Leu)
c.3205G>C (p.Val1069Leu)
c.4051G>C (p.Val1351Leu)
c.3571G>C (p.Val1191Leu)
12g.47974289C>TCA6534531COL2A1c.3910G>A (p.Val1304Ile)
c.4117G>A (p.Val1373Ile)
n.3203G>A
c.4261G>A (p.Val1421Ile)
c.4258G>A (p.Val1420Ile)
c.3205G>A (p.Val1069Ile)
c.4051G>A (p.Val1351Ile)
c.3571G>A (p.Val1191Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974290G>ACA6534532COL2A1c.3909C>T (p.Asn1303=)
c.4116C>T (p.Asn1372=)
n.3202C>T
c.4260C>T (p.Asn1420=)
c.4257C>T (p.Asn1419=)
c.3204C>T (p.Asn1068=)
c.4050C>T (p.Asn1350=)
c.3570C>T (p.Asn1190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47974290G>CCA384533847COL2A1c.3909C>G (p.Asn1303Lys)
c.4116C>G (p.Asn1372Lys)
n.3202C>G
c.4260C>G (p.Asn1420Lys)
c.4257C>G (p.Asn1419Lys)
c.3204C>G (p.Asn1068Lys)
c.4050C>G (p.Asn1350Lys)
c.3570C>G (p.Asn1190Lys)
 gnomAD v4
12g.47974290G=CA2034471909COL2A1c.3909C= (p.Asn1303=)
c.4116C= (p.Asn1372=)
n.3202C=
c.4260C= (p.Asn1420=)
c.4257C= (p.Asn1419=)
c.3204C= (p.Asn1068=)
c.4050C= (p.Asn1350=)
c.3570C= (p.Asn1190=)
12g.47974290G>TCA384533849COL2A1c.3909C>A (p.Asn1303Lys)
c.4116C>A (p.Asn1372Lys)
n.3202C>A
c.4260C>A (p.Asn1420Lys)
c.4257C>A (p.Asn1419Lys)
c.3204C>A (p.Asn1068Lys)
c.4050C>A (p.Asn1350Lys)
c.3570C>A (p.Asn1190Lys)
12g.47974290_47974291insAAGCAGCA2726229229COL2A1c.3909_3910insTGCTTC (p.Asn1303_Val1304insCysPhe)
c.4116_4117insTGCTTC (p.Asn1372_Val1373insCysPhe)
n.3202_3203insTGCTTC
c.4260_4261insTGCTTC (p.Asn1420_Val1421insCysPhe)
c.4257_4258insTGCTTC (p.Asn1419_Val1420insCysPhe)
c.3204_3205insTGCTTC (p.Asn1068_Val1069insCysPhe)
c.4050_4051insTGCTTC (p.Asn1350_Val1351insCysPhe)
c.3570_3571insTGCTTC (p.Asn1190_Val1191insCysPhe)
 dbSNP
12g.47974290_47974291insAAGCAGCCA2726229242COL2A1c.3908_3909insGCTGCTT (p.Asn1303LysfsTer?)
c.4115_4116insGCTGCTT (p.Asn1372LysfsTer?)
n.3201_3202insGCTGCTT
c.4259_4260insGCTGCTT (p.Asn1420LysfsTer?)
c.4256_4257insGCTGCTT (p.Asn1419LysfsTer?)
c.3203_3204insGCTGCTT (p.Asn1068LysfsTer?)
c.4049_4050insGCTGCTT (p.Asn1350LysfsTer?)
c.3569_3570insGCTGCTT (p.Asn1190LysfsTer?)
 dbSNP
12g.47974291T>ACA384533851COL2A1c.3908A>T (p.Asn1303Ile)
c.4115A>T (p.Asn1372Ile)
n.3201A>T
c.4259A>T (p.Asn1420Ile)
c.4256A>T (p.Asn1419Ile)
c.3203A>T (p.Asn1068Ile)
c.4049A>T (p.Asn1350Ile)
c.3569A>T (p.Asn1190Ile)
12g.47974291T>CCA6534533COL2A1c.3908A>G (p.Asn1303Ser)
c.4115A>G (p.Asn1372Ser)
n.3201A>G
c.4259A>G (p.Asn1420Ser)
c.4256A>G (p.Asn1419Ser)
c.3203A>G (p.Asn1068Ser)
c.4049A>G (p.Asn1350Ser)
c.3569A>G (p.Asn1190Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974291T>GCA384533854COL2A1c.3908A>C (p.Asn1303Thr)
c.4115A>C (p.Asn1372Thr)
n.3201A>C
c.4259A>C (p.Asn1420Thr)
c.4256A>C (p.Asn1419Thr)
c.3203A>C (p.Asn1068Thr)
c.4049A>C (p.Asn1350Thr)
c.3569A>C (p.Asn1190Thr)
12g.47974291T=CA2034471914COL2A1c.3908A= (p.Asn1303=)
c.4115A= (p.Asn1372=)
n.3201A=
c.4259A= (p.Asn1420=)
c.4256A= (p.Asn1419=)
c.3203A= (p.Asn1068=)
c.4049A= (p.Asn1350=)
c.3569A= (p.Asn1190=)
12g.47974292T>ACA384533861COL2A1c.3907A>T (p.Asn1303Tyr)
c.4114A>T (p.Asn1372Tyr)
n.3200A>T
c.4258A>T (p.Asn1420Tyr)
c.4255A>T (p.Asn1419Tyr)
c.3202A>T (p.Asn1068Tyr)
c.4048A>T (p.Asn1350Tyr)
c.3568A>T (p.Asn1190Tyr)
12g.47974292T>CCA384533857COL2A1c.3907A>G (p.Asn1303Asp)
c.4114A>G (p.Asn1372Asp)
n.3200A>G
c.4258A>G (p.Asn1420Asp)
c.4255A>G (p.Asn1419Asp)
c.3202A>G (p.Asn1068Asp)
c.4048A>G (p.Asn1350Asp)
c.3568A>G (p.Asn1190Asp)
12g.47974292T>GCA384533859COL2A1c.3907A>C (p.Asn1303His)
c.4114A>C (p.Asn1372His)
n.3200A>C
c.4258A>C (p.Asn1420His)
c.4255A>C (p.Asn1419His)
c.3202A>C (p.Asn1068His)
c.4048A>C (p.Asn1350His)
c.3568A>C (p.Asn1190His)
12g.47974293G>ACA479450253COL2A1c.3906C>T (p.Ala1302=)
c.4113C>T (p.Ala1371=)
n.3199C>T
c.4257C>T (p.Ala1419=)
c.4254C>T (p.Ala1418=)
c.3201C>T (p.Ala1067=)
c.4047C>T (p.Ala1349=)
c.3567C>T (p.Ala1189=)
 gnomAD v4
12g.47974293G>CCA479450254COL2A1c.3906C>G (p.Ala1302=)
c.4113C>G (p.Ala1371=)
n.3199C>G
c.4257C>G (p.Ala1419=)
c.4254C>G (p.Ala1418=)
c.3201C>G (p.Ala1067=)
c.4047C>G (p.Ala1349=)
c.3567C>G (p.Ala1189=)
12g.47974293G>TCA479450255COL2A1c.3906C>A (p.Ala1302=)
c.4113C>A (p.Ala1371=)
n.3199C>A
c.4257C>A (p.Ala1419=)
c.4254C>A (p.Ala1418=)
c.3201C>A (p.Ala1067=)
c.4047C>A (p.Ala1349=)
c.3567C>A (p.Ala1189=)
12g.47974294delCA2521801334COL2A1c.3906del (p.Asn1303ThrfsTer4)
c.4113del (p.Asn1372ThrfsTer4)
n.3199del
c.4257del (p.Asn1420ThrfsTer4)
c.4254del (p.Asn1419ThrfsTer4)
c.3201del (p.Asn1068ThrfsTer4)
c.4047del (p.Asn1350ThrfsTer4)
c.3567del (p.Asn1190ThrfsTer4)
12g.47974293_47974294insAACA2726229457COL2A1c.3905_3906insTT (p.Asn1303SerfsTer5)
c.4112_4113insTT (p.Asn1372SerfsTer5)
n.3198_3199insTT
c.4256_4257insTT (p.Asn1420SerfsTer5)
c.4253_4254insTT (p.Asn1419SerfsTer5)
c.3200_3201insTT (p.Asn1068SerfsTer5)
c.4046_4047insTT (p.Asn1350SerfsTer5)
c.3566_3567insTT (p.Asn1190SerfsTer5)
 dbSNP
12g.47974293_47974294insCACA2726229249COL2A1c.3905_3906insTG (p.Asn1303AlafsTer5)
c.4112_4113insTG (p.Asn1372AlafsTer5)
n.3198_3199insTG
c.4256_4257insTG (p.Asn1420AlafsTer5)
c.4253_4254insTG (p.Asn1419AlafsTer5)
c.3200_3201insTG (p.Asn1068AlafsTer5)
c.4046_4047insTG (p.Asn1350AlafsTer5)
c.3566_3567insTG (p.Asn1190AlafsTer5)
 dbSNP
12g.47974294G>ACA384533863COL2A1c.3905C>T (p.Ala1302Val)
c.4112C>T (p.Ala1371Val)
n.3198C>T
c.4256C>T (p.Ala1419Val)
c.4253C>T (p.Ala1418Val)
c.3200C>T (p.Ala1067Val)
c.4046C>T (p.Ala1349Val)
c.3566C>T (p.Ala1189Val)
 dbSNP
12g.47974294G>CCA384533865COL2A1c.3905C>G (p.Ala1302Gly)
c.4112C>G (p.Ala1371Gly)
n.3198C>G
c.4256C>G (p.Ala1419Gly)
c.4253C>G (p.Ala1418Gly)
c.3200C>G (p.Ala1067Gly)
c.4046C>G (p.Ala1349Gly)
c.3566C>G (p.Ala1189Gly)
12g.47974294G>TCA384533867COL2A1c.3905C>A (p.Ala1302Asp)
c.4112C>A (p.Ala1371Asp)
n.3198C>A
c.4256C>A (p.Ala1419Asp)
c.4253C>A (p.Ala1418Asp)
c.3200C>A (p.Ala1067Asp)
c.4046C>A (p.Ala1349Asp)
c.3566C>A (p.Ala1189Asp)
 COSMIC COSMIC
12g.47974295C>ACA384533869COL2A1c.3904G>T (p.Ala1302Ser)
c.4111G>T (p.Ala1371Ser)
n.3197G>T
c.4255G>T (p.Ala1419Ser)
c.4252G>T (p.Ala1418Ser)
c.3199G>T (p.Ala1067Ser)
c.4045G>T (p.Ala1349Ser)
c.3565G>T (p.Ala1189Ser)
12g.47974295C=CA2034471917COL2A1c.3904G= (p.Ala1302=)
c.4111G= (p.Ala1371=)
n.3197G=
c.4255G= (p.Ala1419=)
c.4252G= (p.Ala1418=)
c.3199G= (p.Ala1067=)
c.4045G= (p.Ala1349=)
c.3565G= (p.Ala1189=)
12g.47974295C>GCA384533871COL2A1c.3904G>C (p.Ala1302Pro)
c.4111G>C (p.Ala1371Pro)
n.3197G>C
c.4255G>C (p.Ala1419Pro)
c.4252G>C (p.Ala1418Pro)
c.3199G>C (p.Ala1067Pro)
c.4045G>C (p.Ala1349Pro)
c.3565G>C (p.Ala1189Pro)
12g.47974295C>TCA384533873COL2A1c.3904G>A (p.Ala1302Thr)
c.4111G>A (p.Ala1371Thr)
n.3197G>A
c.4255G>A (p.Ala1419Thr)
c.4252G>A (p.Ala1418Thr)
c.3199G>A (p.Ala1067Thr)
c.4045G>A (p.Ala1349Thr)
c.3565G>A (p.Ala1189Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.47974296A>CCA479450256COL2A1c.3903T>G (p.Thr1301=)
c.4110T>G (p.Thr1370=)
n.3196T>G
c.4254T>G (p.Thr1418=)
c.4251T>G (p.Thr1417=)
c.3198T>G (p.Thr1066=)
c.4044T>G (p.Thr1348=)
c.3564T>G (p.Thr1188=)
12g.47974296A>GCA479450257COL2A1c.3903T>C (p.Thr1301=)
c.4110T>C (p.Thr1370=)
n.3196T>C
c.4254T>C (p.Thr1418=)
c.4251T>C (p.Thr1417=)
c.3198T>C (p.Thr1066=)
c.4044T>C (p.Thr1348=)
c.3564T>C (p.Thr1188=)
12g.47974296A>TCA479450258COL2A1c.3903T>A (p.Thr1301=)
c.4110T>A (p.Thr1370=)
n.3196T>A
c.4254T>A (p.Thr1418=)
c.4251T>A (p.Thr1417=)
c.3198T>A (p.Thr1066=)
c.4044T>A (p.Thr1348=)
c.3564T>A (p.Thr1188=)
12g.47974297G>ACA6534534COL2A1c.3902C>T (p.Thr1301Ile)
c.4109C>T (p.Thr1370Ile)
n.3195C>T
c.4253C>T (p.Thr1418Ile)
c.4250C>T (p.Thr1417Ile)
c.3197C>T (p.Thr1066Ile)
c.4043C>T (p.Thr1348Ile)
c.3563C>T (p.Thr1188Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47974297G>CCA384533876COL2A1c.3902C>G (p.Thr1301Ser)
c.4109C>G (p.Thr1370Ser)
n.3195C>G
c.4253C>G (p.Thr1418Ser)
c.4250C>G (p.Thr1417Ser)
c.3197C>G (p.Thr1066Ser)
c.4043C>G (p.Thr1348Ser)
c.3563C>G (p.Thr1188Ser)
12g.47974297G=CA2034471922COL2A1c.3902C= (p.Thr1301=)
c.4109C= (p.Thr1370=)
n.3195C=
c.4253C= (p.Thr1418=)
c.4250C= (p.Thr1417=)
c.3197C= (p.Thr1066=)
c.4043C= (p.Thr1348=)
c.3563C= (p.Thr1188=)
12g.47974297G>TCA384533877COL2A1c.3902C>A (p.Thr1301Asn)
c.4109C>A (p.Thr1370Asn)
n.3195C>A
c.4253C>A (p.Thr1418Asn)
c.4250C>A (p.Thr1417Asn)
c.3197C>A (p.Thr1066Asn)
c.4043C>A (p.Thr1348Asn)
c.3563C>A (p.Thr1188Asn)
12g.47974298T>ACA384533879COL2A1c.3901A>T (p.Thr1301Ser)
c.4108A>T (p.Thr1370Ser)
n.3194A>T
c.4252A>T (p.Thr1418Ser)
c.4249A>T (p.Thr1417Ser)
c.3196A>T (p.Thr1066Ser)
c.4042A>T (p.Thr1348Ser)
c.3562A>T (p.Thr1188Ser)
12g.47974298T>CCA384533881COL2A1c.3901A>G (p.Thr1301Ala)
c.4108A>G (p.Thr1370Ala)
n.3194A>G
c.4252A>G (p.Thr1418Ala)
c.4249A>G (p.Thr1417Ala)
c.3196A>G (p.Thr1066Ala)
c.4042A>G (p.Thr1348Ala)
c.3562A>G (p.Thr1188Ala)
12g.47974298T>GCA384533882COL2A1c.3901A>C (p.Thr1301Pro)
c.4108A>C (p.Thr1370Pro)
n.3194A>C
c.4252A>C (p.Thr1418Pro)
c.4249A>C (p.Thr1417Pro)
c.3196A>C (p.Thr1066Pro)
c.4042A>C (p.Thr1348Pro)
c.3562A>C (p.Thr1188Pro)
12g.47974299G>ACA479450259COL2A1c.3900C>T (p.Asn1300=)
c.4107C>T (p.Asn1369=)
n.3193C>T
c.4251C>T (p.Asn1417=)
c.4248C>T (p.Asn1416=)
c.3195C>T (p.Asn1065=)
c.4041C>T (p.Asn1347=)
c.3561C>T (p.Asn1187=)
12g.47974299G>CCA384533885COL2A1c.3900C>G (p.Asn1300Lys)
c.4107C>G (p.Asn1369Lys)
n.3193C>G
c.4251C>G (p.Asn1417Lys)
c.4248C>G (p.Asn1416Lys)
c.3195C>G (p.Asn1065Lys)
c.4041C>G (p.Asn1347Lys)
c.3561C>G (p.Asn1187Lys)
12g.47974299G>TCA384533884COL2A1c.3900C>A (p.Asn1300Lys)
c.4107C>A (p.Asn1369Lys)
n.3193C>A
c.4251C>A (p.Asn1417Lys)
c.4248C>A (p.Asn1416Lys)
c.3195C>A (p.Asn1065Lys)
c.4041C>A (p.Asn1347Lys)
c.3561C>A (p.Asn1187Lys)
12g.47974300T>ACA384533888COL2A1c.3899A>T (p.Asn1300Ile)
c.4106A>T (p.Asn1369Ile)
n.3192A>T
c.4250A>T (p.Asn1417Ile)
c.4247A>T (p.Asn1416Ile)
c.3194A>T (p.Asn1065Ile)
c.4040A>T (p.Asn1347Ile)
c.3560A>T (p.Asn1187Ile)
12g.47974300T>CCA384533891COL2A1c.3899A>G (p.Asn1300Ser)
c.4106A>G (p.Asn1369Ser)
n.3192A>G
c.4250A>G (p.Asn1417Ser)
c.4247A>G (p.Asn1416Ser)
c.3194A>G (p.Asn1065Ser)
c.4040A>G (p.Asn1347Ser)
c.3560A>G (p.Asn1187Ser)
12g.47974300T>GCA384533890COL2A1c.3899A>C (p.Asn1300Thr)
c.4106A>C (p.Asn1369Thr)
n.3192A>C
c.4250A>C (p.Asn1417Thr)
c.4247A>C (p.Asn1416Thr)
c.3194A>C (p.Asn1065Thr)
c.4040A>C (p.Asn1347Thr)
c.3560A>C (p.Asn1187Thr)
12g.47974301T>ACA384533892COL2A1c.3898A>T (p.Asn1300Tyr)
c.4105A>T (p.Asn1369Tyr)
n.3191A>T
c.4249A>T (p.Asn1417Tyr)
c.4246A>T (p.Asn1416Tyr)
c.3193A>T (p.Asn1065Tyr)
c.4039A>T (p.Asn1347Tyr)
c.3559A>T (p.Asn1187Tyr)
12g.47974301T>CCA384533894COL2A1c.3898A>G (p.Asn1300Asp)
c.4105A>G (p.Asn1369Asp)
n.3191A>G
c.4249A>G (p.Asn1417Asp)
c.4246A>G (p.Asn1416Asp)
c.3193A>G (p.Asn1065Asp)
c.4039A>G (p.Asn1347Asp)
c.3559A>G (p.Asn1187Asp)
 gnomAD v4
12g.47974301T>GCA384533896COL2A1c.3898A>C (p.Asn1300His)
c.4105A>C (p.Asn1369His)
n.3191A>C
c.4249A>C (p.Asn1417His)
c.4246A>C (p.Asn1416His)
c.3193A>C (p.Asn1065His)
c.4039A>C (p.Asn1347His)
c.3559A>C (p.Asn1187His)

Number of alleles fetched