Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47978282C= | CA2034476808 | COL2A1 | c.2796+9G= (n.2796+9G=) c.3003+9G= (n.3003+9G=) n.2089+9G= c.3147+9G= (n.3147+9G=) c.3144+9G= (n.3144+9G=) c.2091+9G= (n.2091+9G=) c.2937+9G= (n.2937+9G=) c.2457+9G= (n.2457+9G=) | |
12 | g.47978282C>T | CA6534930 | COL2A1 | c.2796+9G>A (n.2796+9G>A) c.3003+9G>A (n.3003+9G>A) n.2089+9G>A c.3147+9G>A (n.3147+9G>A) c.3144+9G>A (n.3144+9G>A) c.2091+9G>A (n.2091+9G>A) c.2937+9G>A (n.2937+9G>A) c.2457+9G>A (n.2457+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978284C>A | CA6534931 | COL2A1 | c.2796+7G>T (n.2796+7G>T) c.3003+7G>T (n.3003+7G>T) n.2089+7G>T c.3147+7G>T (n.3147+7G>T) c.3144+7G>T (n.3144+7G>T) c.2091+7G>T (n.2091+7G>T) c.2937+7G>T (n.2937+7G>T) c.2457+7G>T (n.2457+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978284C= | CA2034476809 | COL2A1 | c.2796+7G= (n.2796+7G=) c.3003+7G= (n.3003+7G=) n.2089+7G= c.3147+7G= (n.3147+7G=) c.3144+7G= (n.3144+7G=) c.2091+7G= (n.2091+7G=) c.2937+7G= (n.2937+7G=) c.2457+7G= (n.2457+7G=) | |
12 | g.47978285A= | CA2034476810 | COL2A1 | c.2796+6T= (n.2796+6T=) c.3003+6T= (n.3003+6T=) n.2089+6T= c.3147+6T= (n.3147+6T=) c.3144+6T= (n.3144+6T=) c.2091+6T= (n.2091+6T=) c.2937+6T= (n.2937+6T=) c.2457+6T= (n.2457+6T=) | |
12 | g.47978285A>C | CA2034476811 | COL2A1 | c.2796+6T>G (n.2796+6T>G) c.3003+6T>G (n.3003+6T>G) n.2089+6T>G c.3147+6T>G (n.3147+6T>G) c.3144+6T>G (n.3144+6T>G) c.2091+6T>G (n.2091+6T>G) c.2937+6T>G (n.2937+6T>G) c.2457+6T>G (n.2457+6T>G) | dbSNP |
12 | g.47978285A>T | CA2580085518 | COL2A1 | c.2796+6T>A (n.2796+6T>A) c.3003+6T>A (n.3003+6T>A) n.2089+6T>A c.3147+6T>A (n.3147+6T>A) c.3144+6T>A (n.3144+6T>A) c.2091+6T>A (n.2091+6T>A) c.2937+6T>A (n.2937+6T>A) c.2457+6T>A (n.2457+6T>A) | ClinVar |
12 | g.47978286C>T | CA2695216647 | COL2A1 | c.2796+5G>A (n.2796+5G>A) c.3003+5G>A (n.3003+5G>A) n.2089+5G>A c.3147+5G>A (n.3147+5G>A) c.3144+5G>A (n.3144+5G>A) c.2091+5G>A (n.2091+5G>A) c.2937+5G>A (n.2937+5G>A) c.2457+5G>A (n.2457+5G>A) | |
12 | g.47978289A>C | CA384541069 | COL2A1 | c.2796+2T>G (n.2796+2T>G) c.3003+2T>G (n.3003+2T>G) n.2089+2T>G c.3147+2T>G (n.3147+2T>G) c.3144+2T>G (n.3144+2T>G) c.2091+2T>G (n.2091+2T>G) c.2937+2T>G (n.2937+2T>G) c.2457+2T>G (n.2457+2T>G) | |
12 | g.47978289A>G | CA384541071 | COL2A1 | c.2796+2T>C (n.2796+2T>C) c.3003+2T>C (n.3003+2T>C) n.2089+2T>C c.3147+2T>C (n.3147+2T>C) c.3144+2T>C (n.3144+2T>C) c.2091+2T>C (n.2091+2T>C) c.2937+2T>C (n.2937+2T>C) c.2457+2T>C (n.2457+2T>C) | |
12 | g.47978289A>T | CA384541072 | COL2A1 | c.2796+2T>A (n.2796+2T>A) c.3003+2T>A (n.3003+2T>A) n.2089+2T>A c.3147+2T>A (n.3147+2T>A) c.3144+2T>A (n.3144+2T>A) c.2091+2T>A (n.2091+2T>A) c.2937+2T>A (n.2937+2T>A) c.2457+2T>A (n.2457+2T>A) | |
12 | g.47978290C>A | CA384541075 | COL2A1 | c.2796+1G>T (n.2796+1G>T) c.3003+1G>T (n.3003+1G>T) n.2089+1G>T c.3147+1G>T (n.3147+1G>T) c.3144+1G>T (n.3144+1G>T) c.2091+1G>T (n.2091+1G>T) c.2937+1G>T (n.2937+1G>T) c.2457+1G>T (n.2457+1G>T) | gnomAD v4 |
12 | g.47978290C>G | CA384541076 | COL2A1 | c.2796+1G>C (n.2796+1G>C) c.3003+1G>C (n.3003+1G>C) n.2089+1G>C c.3147+1G>C (n.3147+1G>C) c.3144+1G>C (n.3144+1G>C) c.2091+1G>C (n.2091+1G>C) c.2937+1G>C (n.2937+1G>C) c.2457+1G>C (n.2457+1G>C) | |
12 | g.47978290C>T | CA384541078 | COL2A1 | c.2796+1G>A (n.2796+1G>A) c.3003+1G>A (n.3003+1G>A) n.2089+1G>A c.3147+1G>A (n.3147+1G>A) c.3144+1G>A (n.3144+1G>A) c.2091+1G>A (n.2091+1G>A) c.2937+1G>A (n.2937+1G>A) c.2457+1G>A (n.2457+1G>A) | |
12 | g.47978291C>A | CA479696633 | COL2A1 | c.2796G>T (p.Ser932=) c.3003G>T (p.Ser1001=) n.2089G>T c.3147G>T (p.Ser1049=) c.3144G>T (p.Ser1048=) c.2091G>T (p.Ser697=) c.2937G>T (p.Ser979=) c.2457G>T (p.Ser819=) | |
12 | g.47978291C= | CA2034476812 | COL2A1 | c.2796G= (p.Ser932=) c.3003G= (p.Ser1001=) n.2089G= c.3147G= (p.Ser1049=) c.3144G= (p.Ser1048=) c.2091G= (p.Ser697=) c.2937G= (p.Ser979=) c.2457G= (p.Ser819=) | |
12 | g.47978291C>G | CA479696631 | COL2A1 | c.2796G>C (p.Ser932=) c.3003G>C (p.Ser1001=) n.2089G>C c.3147G>C (p.Ser1049=) c.3144G>C (p.Ser1048=) c.2091G>C (p.Ser697=) c.2937G>C (p.Ser979=) c.2457G>C (p.Ser819=) | |
12 | g.47978291C>T | CA479696632 | COL2A1 | c.2796G>A (p.Ser932=) c.3003G>A (p.Ser1001=) n.2089G>A c.3147G>A (p.Ser1049=) c.3144G>A (p.Ser1048=) c.2091G>A (p.Ser697=) c.2937G>A (p.Ser979=) c.2457G>A (p.Ser819=) | dbSNP gnomAD v4 |
12 | g.47978292G>A | CA6534932 | COL2A1 | c.2795C>T (p.Ser932Leu) c.3002C>T (p.Ser1001Leu) n.2088C>T c.3146C>T (p.Ser1049Leu) c.3143C>T (p.Ser1048Leu) c.2090C>T (p.Ser697Leu) c.2936C>T (p.Ser979Leu) c.2456C>T (p.Ser819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.47978292G>C | CA384541083 | COL2A1 | c.2795C>G (p.Ser932Trp) c.3002C>G (p.Ser1001Trp) n.2088C>G c.3146C>G (p.Ser1049Trp) c.3143C>G (p.Ser1048Trp) c.2090C>G (p.Ser697Trp) c.2936C>G (p.Ser979Trp) c.2456C>G (p.Ser819Trp) | |
12 | g.47978292G= | CA2034476813 | COL2A1 | c.2795C= (p.Ser932=) c.3002C= (p.Ser1001=) n.2088C= c.3146C= (p.Ser1049=) c.3143C= (p.Ser1048=) c.2090C= (p.Ser697=) c.2936C= (p.Ser979=) c.2456C= (p.Ser819=) | |
12 | g.47978292G>T | CA384541081 | COL2A1 | c.2795C>A (p.Ser932Ter) c.3002C>A (p.Ser1001Ter) n.2088C>A c.3146C>A (p.Ser1049Ter) c.3143C>A (p.Ser1048Ter) c.2090C>A (p.Ser697Ter) c.2936C>A (p.Ser979Ter) c.2456C>A (p.Ser819Ter) | |
12 | g.47978293A>C | CA384541086 | COL2A1 | c.2794T>G (p.Ser932Ala) c.3001T>G (p.Ser1001Ala) n.2087T>G c.3145T>G (p.Ser1049Ala) c.3142T>G (p.Ser1048Ala) c.2089T>G (p.Ser697Ala) c.2935T>G (p.Ser979Ala) c.2455T>G (p.Ser819Ala) | |
12 | g.47978293A>G | CA384541087 | COL2A1 | c.2794T>C (p.Ser932Pro) c.3001T>C (p.Ser1001Pro) n.2087T>C c.3145T>C (p.Ser1049Pro) c.3142T>C (p.Ser1048Pro) c.2089T>C (p.Ser697Pro) c.2935T>C (p.Ser979Pro) c.2455T>C (p.Ser819Pro) | |
12 | g.47978293A>T | CA384541089 | COL2A1 | c.2794T>A (p.Ser932Thr) c.3001T>A (p.Ser1001Thr) n.2087T>A c.3145T>A (p.Ser1049Thr) c.3142T>A (p.Ser1048Thr) c.2089T>A (p.Ser697Thr) c.2935T>A (p.Ser979Thr) c.2455T>A (p.Ser819Thr) | |
12 | g.47978293_47978294del | CA2573148632 | COL2A1 | c.2793_2794del (p.Ser932GlyfsTer2) c.3000_3001del (p.Ser1001GlyfsTer2) n.2086_2087del c.3144_3145del (p.Ser1049GlyfsTer2) c.3141_3142del (p.Ser1048GlyfsTer2) c.2088_2089del (p.Ser697GlyfsTer2) c.2934_2935del (p.Ser979GlyfsTer2) c.2454_2455del (p.Ser819GlyfsTer2) | ClinVar dbSNP gnomAD v4 |
12 | g.47978294C>A | CA479696634 | COL2A1 | c.2793G>T (p.Pro931=) c.3000G>T (p.Pro1000=) n.2086G>T c.3144G>T (p.Pro1048=) c.3141G>T (p.Pro1047=) c.2088G>T (p.Pro696=) c.2934G>T (p.Pro978=) c.2454G>T (p.Pro818=) | |
12 | g.47978294C= | CA2034476814 | COL2A1 | c.2793G= (p.Pro931=) c.3000G= (p.Pro1000=) n.2086G= c.3144G= (p.Pro1048=) c.3141G= (p.Pro1047=) c.2088G= (p.Pro696=) c.2934G= (p.Pro978=) c.2454G= (p.Pro818=) | |
12 | g.47978294C>G | CA479696635 | COL2A1 | c.2793G>C (p.Pro931=) c.3000G>C (p.Pro1000=) n.2086G>C c.3144G>C (p.Pro1048=) c.3141G>C (p.Pro1047=) c.2088G>C (p.Pro696=) c.2934G>C (p.Pro978=) c.2454G>C (p.Pro818=) | |
12 | g.47978294C>T | CA6534933 | COL2A1 | c.2793G>A (p.Pro931=) c.3000G>A (p.Pro1000=) n.2086G>A c.3144G>A (p.Pro1048=) c.3141G>A (p.Pro1047=) c.2088G>A (p.Pro696=) c.2934G>A (p.Pro978=) c.2454G>A (p.Pro818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978295G>A | CA6534934 | COL2A1 | c.2792C>T (p.Pro931Leu) c.2999C>T (p.Pro1000Leu) n.2085C>T c.3143C>T (p.Pro1048Leu) c.3140C>T (p.Pro1047Leu) c.2087C>T (p.Pro696Leu) c.2933C>T (p.Pro978Leu) c.2453C>T (p.Pro818Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978295G>C | CA384541094 | COL2A1 | c.2792C>G (p.Pro931Arg) c.2999C>G (p.Pro1000Arg) n.2085C>G c.3143C>G (p.Pro1048Arg) c.3140C>G (p.Pro1047Arg) c.2087C>G (p.Pro696Arg) c.2933C>G (p.Pro978Arg) c.2453C>G (p.Pro818Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47978295G= | CA2034476815 | COL2A1 | c.2792C= (p.Pro931=) c.2999C= (p.Pro1000=) n.2085C= c.3143C= (p.Pro1048=) c.3140C= (p.Pro1047=) c.2087C= (p.Pro696=) c.2933C= (p.Pro978=) c.2453C= (p.Pro818=) | |
12 | g.47978295G>T | CA384541095 | COL2A1 | c.2792C>A (p.Pro931Gln) c.2999C>A (p.Pro1000Gln) n.2085C>A c.3143C>A (p.Pro1048Gln) c.3140C>A (p.Pro1047Gln) c.2087C>A (p.Pro696Gln) c.2933C>A (p.Pro978Gln) c.2453C>A (p.Pro818Gln) | |
12 | g.47978297del | CA2695216648 | COL2A1 | c.2792del (p.Pro931ArgfsTer28) c.2999del (p.Pro1000ArgfsTer28) n.2085del c.3143del (p.Pro1048ArgfsTer28) c.3140del (p.Pro1047ArgfsTer28) c.2087del (p.Pro696ArgfsTer28) c.2933del (p.Pro978ArgfsTer28) c.2453del (p.Pro818ArgfsTer28) | |
12 | g.47978296G>A | CA384541098 | COL2A1 | c.2791C>T (p.Pro931Ser) c.2998C>T (p.Pro1000Ser) n.2084C>T c.3142C>T (p.Pro1048Ser) c.3139C>T (p.Pro1047Ser) c.2086C>T (p.Pro696Ser) c.2932C>T (p.Pro978Ser) c.2452C>T (p.Pro818Ser) | gnomAD v4 |
12 | g.47978296G>C | CA384541099 | COL2A1 | c.2791C>G (p.Pro931Ala) c.2998C>G (p.Pro1000Ala) n.2084C>G c.3142C>G (p.Pro1048Ala) c.3139C>G (p.Pro1047Ala) c.2086C>G (p.Pro696Ala) c.2932C>G (p.Pro978Ala) c.2452C>G (p.Pro818Ala) | |
12 | g.47978296G>T | CA384541100 | COL2A1 | c.2791C>A (p.Pro931Thr) c.2998C>A (p.Pro1000Thr) n.2084C>A c.3142C>A (p.Pro1048Thr) c.3139C>A (p.Pro1047Thr) c.2086C>A (p.Pro696Thr) c.2932C>A (p.Pro978Thr) c.2452C>A (p.Pro818Thr) | |
12 | g.47978297G>A | CA6534935 | COL2A1 | c.2790C>T (p.Gly930=) c.2997C>T (p.Gly999=) n.2083C>T c.3141C>T (p.Gly1047=) c.3138C>T (p.Gly1046=) c.2085C>T (p.Gly695=) c.2931C>T (p.Gly977=) c.2451C>T (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47978297G>C | CA6534936 | COL2A1 | c.2790C>G (p.Gly930=) c.2997C>G (p.Gly999=) n.2083C>G c.3141C>G (p.Gly1047=) c.3138C>G (p.Gly1046=) c.2085C>G (p.Gly695=) c.2931C>G (p.Gly977=) c.2451C>G (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47978297G= | CA2034476816 | COL2A1 | c.2790C= (p.Gly930=) c.2997C= (p.Gly999=) n.2083C= c.3141C= (p.Gly1047=) c.3138C= (p.Gly1046=) c.2085C= (p.Gly695=) c.2931C= (p.Gly977=) c.2451C= (p.Gly817=) | |
12 | g.47978297G>T | CA479696636 | COL2A1 | c.2790C>A (p.Gly930=) c.2997C>A (p.Gly999=) n.2083C>A c.3141C>A (p.Gly1047=) c.3138C>A (p.Gly1046=) c.2085C>A (p.Gly695=) c.2931C>A (p.Gly977=) c.2451C>A (p.Gly817=) | dbSNP gnomAD v2 |
12 | g.47978303_47978311del | CA2573148633 | COL2A1 | c.2782_2790del (p.Leu928_Gly930del) c.2989_2997del (p.Leu997_Gly999del) n.2075_2083del c.3133_3141del (p.Leu1045_Gly1047del) c.3130_3138del (p.Leu1044_Gly1046del) c.2077_2085del (p.Leu693_Gly695del) c.2923_2931del (p.Leu975_Gly977del) c.2443_2451del (p.Leu815_Gly817del) | ClinVar dbSNP |
12 | g.47978298C>A | CA384541109 | COL2A1 | c.2789G>T (p.Gly930Val) c.2996G>T (p.Gly999Val) n.2082G>T c.3140G>T (p.Gly1047Val) c.3137G>T (p.Gly1046Val) c.2084G>T (p.Gly695Val) c.2930G>T (p.Gly977Val) c.2450G>T (p.Gly817Val) | |
12 | g.47978298C>G | CA384541110 | COL2A1 | c.2789G>C (p.Gly930Ala) c.2996G>C (p.Gly999Ala) n.2082G>C c.3140G>C (p.Gly1047Ala) c.3137G>C (p.Gly1046Ala) c.2084G>C (p.Gly695Ala) c.2930G>C (p.Gly977Ala) c.2450G>C (p.Gly817Ala) | |
12 | g.47978298C>T | CA384541107 | COL2A1 | c.2789G>A (p.Gly930Asp) c.2996G>A (p.Gly999Asp) n.2082G>A c.3140G>A (p.Gly1047Asp) c.3137G>A (p.Gly1046Asp) c.2084G>A (p.Gly695Asp) c.2930G>A (p.Gly977Asp) c.2450G>A (p.Gly817Asp) | |
12 | g.47978299C>A | CA384541117 | COL2A1 | c.2788G>T (p.Gly930Cys) c.2995G>T (p.Gly999Cys) n.2081G>T c.3139G>T (p.Gly1047Cys) c.3136G>T (p.Gly1046Cys) c.2083G>T (p.Gly695Cys) c.2929G>T (p.Gly977Cys) c.2449G>T (p.Gly817Cys) | ClinVar dbSNP |
12 | g.47978299C>G | CA384541113 | COL2A1 | c.2788G>C (p.Gly930Arg) c.2995G>C (p.Gly999Arg) n.2081G>C c.3139G>C (p.Gly1047Arg) c.3136G>C (p.Gly1046Arg) c.2083G>C (p.Gly695Arg) c.2929G>C (p.Gly977Arg) c.2449G>C (p.Gly817Arg) | |
12 | g.47978299C>T | CA384541115 | COL2A1 | c.2788G>A (p.Gly930Ser) c.2995G>A (p.Gly999Ser) n.2081G>A c.3139G>A (p.Gly1047Ser) c.3136G>A (p.Gly1046Ser) c.2083G>A (p.Gly695Ser) c.2929G>A (p.Gly977Ser) c.2449G>A (p.Gly817Ser) | |
12 | g.47978300A>C | CA479696637 | COL2A1 | c.2787T>G (p.Pro929=) c.2994T>G (p.Pro998=) n.2080T>G c.3138T>G (p.Pro1046=) c.3135T>G (p.Pro1045=) c.2082T>G (p.Pro694=) c.2928T>G (p.Pro976=) c.2448T>G (p.Pro816=) |