Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47993807_47993834delCA1139771742COL2A1c.699_717+9del
c.906_924+9del
c.1050_1068+9del
c.1047_1065+9del
c.840_858+9del
c.360_378+9del
ClinVar dbSNP
12g.47993825C>ACA384521884COL2A1c.701G>T (p.Gly234Val)
c.908G>T (p.Gly303Val)
c.1052G>T (p.Gly351Val)
c.1049G>T (p.Gly350Val)
c.842G>T (p.Gly281Val)
c.362G>T (p.Gly121Val)
12g.47993825C=CA2034477557COL2A1c.701G= (p.Gly234=)
c.908G= (p.Gly303=)
c.1052G= (p.Gly351=)
c.1049G= (p.Gly350=)
c.842G= (p.Gly281=)
c.362G= (p.Gly121=)
12g.47993825C>GCA384521885COL2A1c.701G>C (p.Gly234Ala)
c.908G>C (p.Gly303Ala)
c.1052G>C (p.Gly351Ala)
c.1049G>C (p.Gly350Ala)
c.842G>C (p.Gly281Ala)
c.362G>C (p.Gly121Ala)
12g.47993825C>TCA127160COL2A1c.701G>A (p.Gly234Asp)
c.908G>A (p.Gly303Asp)
c.1052G>A (p.Gly351Asp)
c.1049G>A (p.Gly350Asp)
c.842G>A (p.Gly281Asp)
c.362G>A (p.Gly121Asp)
ClinVar dbSNP
12g.47993826C>ACA384521888COL2A1c.700G>T (p.Gly234Cys)
c.907G>T (p.Gly303Cys)
c.1051G>T (p.Gly351Cys)
c.1048G>T (p.Gly350Cys)
c.841G>T (p.Gly281Cys)
c.361G>T (p.Gly121Cys)
12g.47993826C>GCA384521887COL2A1c.700G>C (p.Gly234Arg)
c.907G>C (p.Gly303Arg)
c.1051G>C (p.Gly351Arg)
c.1048G>C (p.Gly350Arg)
c.841G>C (p.Gly281Arg)
c.361G>C (p.Gly121Arg)
12g.47993826C>TCA384521886COL2A1c.700G>A (p.Gly234Ser)
c.907G>A (p.Gly303Ser)
c.1051G>A (p.Gly351Ser)
c.1048G>A (p.Gly350Ser)
c.841G>A (p.Gly281Ser)
c.361G>A (p.Gly121Ser)
12g.47993827C>ACA479440512COL2A1c.699G>T (p.Ala233=)
c.906G>T (p.Ala302=)
c.1050G>T (p.Ala350=)
c.1047G>T (p.Ala349=)
c.840G>T (p.Ala280=)
c.360G>T (p.Ala120=)
gnomAD v4
12g.47993827C=CA2034477560COL2A1c.699G= (p.Ala233=)
c.906G= (p.Ala302=)
c.1050G= (p.Ala350=)
c.1047G= (p.Ala349=)
c.840G= (p.Ala280=)
c.360G= (p.Ala120=)
12g.47993827C>GCA479440515COL2A1c.699G>C (p.Ala233=)
c.906G>C (p.Ala302=)
c.1050G>C (p.Ala350=)
c.1047G>C (p.Ala349=)
c.840G>C (p.Ala280=)
c.360G>C (p.Ala120=)
12g.47993827C>TCA6535727COL2A1c.699G>A (p.Ala233=)
c.906G>A (p.Ala302=)
c.1050G>A (p.Ala350=)
c.1047G>A (p.Ala349=)
c.840G>A (p.Ala280=)
c.360G>A (p.Ala120=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47993828_47993829delCA2695216309COL2A1c.698_699del (p.Ala233GlyfsTer8)
c.905_906del (p.Ala302GlyfsTer8)
c.1049_1050del (p.Ala350GlyfsTer8)
c.1046_1047del (p.Ala349GlyfsTer8)
c.839_840del (p.Ala280GlyfsTer8)
c.359_360del (p.Ala120GlyfsTer8)
12g.47993828G>ACA384521889COL2A1c.698C>T (p.Ala233Val)
c.905C>T (p.Ala302Val)
c.1049C>T (p.Ala350Val)
c.1046C>T (p.Ala349Val)
c.839C>T (p.Ala280Val)
c.359C>T (p.Ala120Val)
ClinVar dbSNP COSMIC COSMIC
12g.47993828G>CCA384521890COL2A1c.698C>G (p.Ala233Gly)
c.905C>G (p.Ala302Gly)
c.1049C>G (p.Ala350Gly)
c.1046C>G (p.Ala349Gly)
c.839C>G (p.Ala280Gly)
c.359C>G (p.Ala120Gly)
12g.47993828G=CA2034477563COL2A1c.698C= (p.Ala233=)
c.905C= (p.Ala302=)
c.1049C= (p.Ala350=)
c.1046C= (p.Ala349=)
c.839C= (p.Ala280=)
c.359C= (p.Ala120=)
12g.47993828G>TCA384521891COL2A1c.698C>A (p.Ala233Glu)
c.905C>A (p.Ala302Glu)
c.1049C>A (p.Ala350Glu)
c.1046C>A (p.Ala349Glu)
c.839C>A (p.Ala280Glu)
c.359C>A (p.Ala120Glu)
12g.47993829C>ACA384521892COL2A1c.697G>T (p.Ala233Ser)
c.904G>T (p.Ala302Ser)
c.1048G>T (p.Ala350Ser)
c.1045G>T (p.Ala349Ser)
c.838G>T (p.Ala280Ser)
c.358G>T (p.Ala120Ser)
12g.47993829C>GCA384521893COL2A1c.697G>C (p.Ala233Pro)
c.904G>C (p.Ala302Pro)
c.1048G>C (p.Ala350Pro)
c.1045G>C (p.Ala349Pro)
c.838G>C (p.Ala280Pro)
c.358G>C (p.Ala120Pro)
12g.47993829C>TCA384521894COL2A1c.697G>A (p.Ala233Thr)
c.904G>A (p.Ala302Thr)
c.1048G>A (p.Ala350Thr)
c.1045G>A (p.Ala349Thr)
c.838G>A (p.Ala280Thr)
c.358G>A (p.Ala120Thr)
12g.47993830C>ACA384521895COL2A1c.696G>T (p.Glu232Asp)
c.903G>T (p.Glu301Asp)
c.1047G>T (p.Glu349Asp)
c.1044G>T (p.Glu348Asp)
c.837G>T (p.Glu279Asp)
c.357G>T (p.Glu119Asp)
ClinVar dbSNP
12g.47993830C=CA2034477566COL2A1c.696G= (p.Glu232=)
c.903G= (p.Glu301=)
c.1047G= (p.Glu349=)
c.1044G= (p.Glu348=)
c.837G= (p.Glu279=)
c.357G= (p.Glu119=)
12g.47993830C>GCA384521896COL2A1c.696G>C (p.Glu232Asp)
c.903G>C (p.Glu301Asp)
c.1047G>C (p.Glu349Asp)
c.1044G>C (p.Glu348Asp)
c.837G>C (p.Glu279Asp)
c.357G>C (p.Glu119Asp)
12g.47993830C>TCA479440534COL2A1c.696G>A (p.Glu232=)
c.903G>A (p.Glu301=)
c.1047G>A (p.Glu349=)
c.1044G>A (p.Glu348=)
c.837G>A (p.Glu279=)
c.357G>A (p.Glu119=)
gnomAD v4
12g.47993831T>ACA384521897COL2A1c.695A>T (p.Glu232Val)
c.902A>T (p.Glu301Val)
c.1046A>T (p.Glu349Val)
c.1043A>T (p.Glu348Val)
c.836A>T (p.Glu279Val)
c.356A>T (p.Glu119Val)
12g.47993831T>CCA384521898COL2A1c.695A>G (p.Glu232Gly)
c.902A>G (p.Glu301Gly)
c.1046A>G (p.Glu349Gly)
c.1043A>G (p.Glu348Gly)
c.836A>G (p.Glu279Gly)
c.356A>G (p.Glu119Gly)
dbSNP gnomAD v4
12g.47993831T>GCA6535728COL2A1c.695A>C (p.Glu232Ala)
c.902A>C (p.Glu301Ala)
c.1046A>C (p.Glu349Ala)
c.1043A>C (p.Glu348Ala)
c.836A>C (p.Glu279Ala)
c.356A>C (p.Glu119Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.47993831T=CA2034477569COL2A1c.695A= (p.Glu232=)
c.902A= (p.Glu301=)
c.1046A= (p.Glu349=)
c.1043A= (p.Glu348=)
c.836A= (p.Glu279=)
c.356A= (p.Glu119=)
12g.47993832C>ACA384521901COL2A1c.694G>T (p.Glu232Ter)
c.901G>T (p.Glu301Ter)
c.1045G>T (p.Glu349Ter)
c.1042G>T (p.Glu348Ter)
c.835G>T (p.Glu279Ter)
c.355G>T (p.Glu119Ter)
12g.47993832C>GCA384521900COL2A1c.694G>C (p.Glu232Gln)
c.901G>C (p.Glu301Gln)
c.1045G>C (p.Glu349Gln)
c.1042G>C (p.Glu348Gln)
c.835G>C (p.Glu279Gln)
c.355G>C (p.Glu119Gln)
12g.47993832C>TCA384521899COL2A1c.694G>A (p.Glu232Lys)
c.901G>A (p.Glu301Lys)
c.1045G>A (p.Glu349Lys)
c.1042G>A (p.Glu348Lys)
c.835G>A (p.Glu279Lys)
c.355G>A (p.Glu119Lys)
12g.47993833T>ACA479440559COL2A1c.693A>T (p.Gly231=)
c.900A>T (p.Gly300=)
c.1044A>T (p.Gly348=)
c.1041A>T (p.Gly347=)
c.834A>T (p.Gly278=)
c.354A>T (p.Gly118=)
12g.47993833T>CCA236490687COL2A1c.693A>G (p.Gly231=)
c.900A>G (p.Gly300=)
c.1044A>G (p.Gly348=)
c.1041A>G (p.Gly347=)
c.834A>G (p.Gly278=)
c.354A>G (p.Gly118=)
dbSNP
12g.47993833T>GCA479440564COL2A1c.693A>C (p.Gly231=)
c.900A>C (p.Gly300=)
c.1044A>C (p.Gly348=)
c.1041A>C (p.Gly347=)
c.834A>C (p.Gly278=)
c.354A>C (p.Gly118=)
12g.47993833T=CA2034477572COL2A1c.693A= (p.Gly231=)
c.900A= (p.Gly300=)
c.1044A= (p.Gly348=)
c.1041A= (p.Gly347=)
c.834A= (p.Gly278=)
c.354A= (p.Gly118=)
12g.47993834C>ACA384521902COL2A1c.692G>T (p.Gly231Val)
c.899G>T (p.Gly300Val)
c.1043G>T (p.Gly348Val)
c.1040G>T (p.Gly347Val)
c.833G>T (p.Gly278Val)
c.353G>T (p.Gly118Val)
12g.47993834C>GCA384521903COL2A1c.692G>C (p.Gly231Ala)
c.899G>C (p.Gly300Ala)
c.1043G>C (p.Gly348Ala)
c.1040G>C (p.Gly347Ala)
c.833G>C (p.Gly278Ala)
c.353G>C (p.Gly118Ala)
12g.47993834C>TCA384521904COL2A1c.692G>A (p.Gly231Glu)
c.899G>A (p.Gly300Glu)
c.1043G>A (p.Gly348Glu)
c.1040G>A (p.Gly347Glu)
c.833G>A (p.Gly278Glu)
c.353G>A (p.Gly118Glu)
12g.47993835C>ACA384521905COL2A1c.691G>T (p.Gly231Ter)
c.898G>T (p.Gly300Ter)
c.1042G>T (p.Gly348Ter)
c.1039G>T (p.Gly347Ter)
c.832G>T (p.Gly278Ter)
c.352G>T (p.Gly118Ter)
12g.47993835C>GCA384521906COL2A1c.691G>C (p.Gly231Arg)
c.898G>C (p.Gly300Arg)
c.1042G>C (p.Gly348Arg)
c.1039G>C (p.Gly347Arg)
c.832G>C (p.Gly278Arg)
c.352G>C (p.Gly118Arg)
12g.47993835C>TCA384521907COL2A1c.691G>A (p.Gly231Arg)
c.898G>A (p.Gly300Arg)
c.1042G>A (p.Gly348Arg)
c.1039G>A (p.Gly347Arg)
c.832G>A (p.Gly278Arg)
c.352G>A (p.Gly118Arg)
12g.47993835_47993838delCA2695216311COL2A1c.688_691del (p.Lys230GlufsTer8)
c.895_898del (p.Lys299GlufsTer8)
c.1039_1042del (p.Lys347GlufsTer8)
c.1036_1039del (p.Lys346GlufsTer8)
c.829_832del (p.Lys277GlufsTer8)
c.349_352del (p.Lys117GlufsTer8)
12g.47993836C>ACA384521908COL2A1c.690G>T (p.Lys230Asn)
c.897G>T (p.Lys299Asn)
c.1041G>T (p.Lys347Asn)
c.1038G>T (p.Lys346Asn)
c.831G>T (p.Lys277Asn)
c.351G>T (p.Lys117Asn)
12g.47993836C=CA2034477574COL2A1c.690G= (p.Lys230=)
c.897G= (p.Lys299=)
c.1041G= (p.Lys347=)
c.1038G= (p.Lys346=)
c.831G= (p.Lys277=)
c.351G= (p.Lys117=)
12g.47993836C>GCA384521909COL2A1c.690G>C (p.Lys230Asn)
c.897G>C (p.Lys299Asn)
c.1041G>C (p.Lys347Asn)
c.1038G>C (p.Lys346Asn)
c.831G>C (p.Lys277Asn)
c.351G>C (p.Lys117Asn)
12g.47993836C>TCA479440571COL2A1c.690G>A (p.Lys230=)
c.897G>A (p.Lys299=)
c.1041G>A (p.Lys347=)
c.1038G>A (p.Lys346=)
c.831G>A (p.Lys277=)
c.351G>A (p.Lys117=)
ClinVar dbSNP gnomAD v4
12g.47993837T>ACA384521910COL2A1c.689A>T (p.Lys230Met)
c.896A>T (p.Lys299Met)
c.1040A>T (p.Lys347Met)
c.1037A>T (p.Lys346Met)
c.830A>T (p.Lys277Met)
c.350A>T (p.Lys117Met)
gnomAD v4
12g.47993837T>CCA384521911COL2A1c.689A>G (p.Lys230Arg)
c.896A>G (p.Lys299Arg)
c.1040A>G (p.Lys347Arg)
c.1037A>G (p.Lys346Arg)
c.830A>G (p.Lys277Arg)
c.350A>G (p.Lys117Arg)
12g.47993837T>GCA384521912COL2A1c.689A>C (p.Lys230Thr)
c.896A>C (p.Lys299Thr)
c.1040A>C (p.Lys347Thr)
c.1037A>C (p.Lys346Thr)
c.830A>C (p.Lys277Thr)
c.350A>C (p.Lys117Thr)
12g.47993838T>ACA384521915COL2A1c.688A>T (p.Lys230Ter)
c.895A>T (p.Lys299Ter)
c.1039A>T (p.Lys347Ter)
c.1036A>T (p.Lys346Ter)
c.829A>T (p.Lys277Ter)
c.349A>T (p.Lys117Ter)

Number of alleles fetched