Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47993807_47993834del | CA1139771742 | COL2A1 | c.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 |
12 | g.47993825C>A | CA384521884 | COL2A1 | c.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) | |
12 | g.47993825C= | CA2034477557 | COL2A1 | c.701G= (p.Gly234=) c.908G= (p.Gly303=) c.1052G= (p.Gly351=) c.1049G= (p.Gly350=) c.842G= (p.Gly281=) c.362G= (p.Gly121=) | |
12 | g.47993825C>G | CA384521885 | COL2A1 | c.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) | |
12 | g.47993825C>T | CA127160 | COL2A1 | c.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 |
12 | g.47993826C>A | CA384521888 | COL2A1 | c.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) | |
12 | g.47993826C>G | CA384521887 | COL2A1 | c.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) | |
12 | g.47993826C>T | CA384521886 | COL2A1 | c.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) | |
12 | g.47993827C>A | CA479440512 | COL2A1 | c.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 |
12 | g.47993827C= | CA2034477560 | COL2A1 | c.699G= (p.Ala233=) c.906G= (p.Ala302=) c.1050G= (p.Ala350=) c.1047G= (p.Ala349=) c.840G= (p.Ala280=) c.360G= (p.Ala120=) | |
12 | g.47993827C>G | CA479440515 | COL2A1 | c.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=) | |
12 | g.47993827C>T | CA6535727 | COL2A1 | c.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 |
12 | g.47993828_47993829del | CA2695216309 | COL2A1 | c.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) | |
12 | g.47993828G>A | CA384521889 | COL2A1 | c.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 |
12 | g.47993828G>C | CA384521890 | COL2A1 | c.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) | |
12 | g.47993828G= | CA2034477563 | COL2A1 | c.698C= (p.Ala233=) c.905C= (p.Ala302=) c.1049C= (p.Ala350=) c.1046C= (p.Ala349=) c.839C= (p.Ala280=) c.359C= (p.Ala120=) | |
12 | g.47993828G>T | CA384521891 | COL2A1 | c.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) | |
12 | g.47993829C>A | CA384521892 | COL2A1 | c.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) | |
12 | g.47993829C>G | CA384521893 | COL2A1 | c.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) | |
12 | g.47993829C>T | CA384521894 | COL2A1 | c.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) | |
12 | g.47993830C>A | CA384521895 | COL2A1 | c.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 |
12 | g.47993830C= | CA2034477566 | COL2A1 | c.696G= (p.Glu232=) c.903G= (p.Glu301=) c.1047G= (p.Glu349=) c.1044G= (p.Glu348=) c.837G= (p.Glu279=) c.357G= (p.Glu119=) | |
12 | g.47993830C>G | CA384521896 | COL2A1 | c.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) | |
12 | g.47993830C>T | CA479440534 | COL2A1 | c.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 |
12 | g.47993831T>A | CA384521897 | COL2A1 | c.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) | |
12 | g.47993831T>C | CA384521898 | COL2A1 | c.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 |
12 | g.47993831T>G | CA6535728 | COL2A1 | c.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 |
12 | g.47993831T= | CA2034477569 | COL2A1 | c.695A= (p.Glu232=) c.902A= (p.Glu301=) c.1046A= (p.Glu349=) c.1043A= (p.Glu348=) c.836A= (p.Glu279=) c.356A= (p.Glu119=) | |
12 | g.47993832C>A | CA384521901 | COL2A1 | c.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) | |
12 | g.47993832C>G | CA384521900 | COL2A1 | c.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) | |
12 | g.47993832C>T | CA384521899 | COL2A1 | c.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) | |
12 | g.47993833T>A | CA479440559 | COL2A1 | c.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=) | |
12 | g.47993833T>C | CA236490687 | COL2A1 | c.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 |
12 | g.47993833T>G | CA479440564 | COL2A1 | c.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=) | |
12 | g.47993833T= | CA2034477572 | COL2A1 | c.693A= (p.Gly231=) c.900A= (p.Gly300=) c.1044A= (p.Gly348=) c.1041A= (p.Gly347=) c.834A= (p.Gly278=) c.354A= (p.Gly118=) | |
12 | g.47993834C>A | CA384521902 | COL2A1 | c.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) | |
12 | g.47993834C>G | CA384521903 | COL2A1 | c.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) | |
12 | g.47993834C>T | CA384521904 | COL2A1 | c.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) | |
12 | g.47993835C>A | CA384521905 | COL2A1 | c.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) | |
12 | g.47993835C>G | CA384521906 | COL2A1 | c.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) | |
12 | g.47993835C>T | CA384521907 | COL2A1 | c.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) | |
12 | g.47993835_47993838del | CA2695216311 | COL2A1 | c.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) | |
12 | g.47993836C>A | CA384521908 | COL2A1 | c.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) | |
12 | g.47993836C= | CA2034477574 | COL2A1 | c.690G= (p.Lys230=) c.897G= (p.Lys299=) c.1041G= (p.Lys347=) c.1038G= (p.Lys346=) c.831G= (p.Lys277=) c.351G= (p.Lys117=) | |
12 | g.47993836C>G | CA384521909 | COL2A1 | c.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) | |
12 | g.47993836C>T | CA479440571 | COL2A1 | c.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 |
12 | g.47993837T>A | CA384521910 | COL2A1 | c.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 |
12 | g.47993837T>C | CA384521911 | COL2A1 | c.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) | |
12 | g.47993837T>G | CA384521912 | COL2A1 | c.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) | |
12 | g.47993838T>A | CA384521915 | COL2A1 | c.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) |