Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47978282C=CA2034476808COL2A1c.2796+9G= (p.=)
c.3003+9G= (p.=)
n.2796+9G= (p.=)
n.2089+9G=
c.3147+9G= (p.=)
c.3144+9G= (p.=)
c.2091+9G= (p.=)
c.2937+9G= (p.=)
c.2457+9G= (p.=)
12g.47978282C>TCA6534930COL2A1c.2796+9G>A (p.=)
c.3003+9G>A (p.=)
n.2796+9G>A (p.=)
n.2089+9G>A
c.3147+9G>A (p.=)
c.3144+9G>A (p.=)
c.2091+9G>A (p.=)
c.2937+9G>A (p.=)
c.2457+9G>A (p.=)
ClinVar dbSNP ExAC gnomAD
12g.47978284C>ACA6534931COL2A1c.2796+7G>T (p.=)
c.3003+7G>T (p.=)
n.2796+7G>T (p.=)
n.2089+7G>T
c.3147+7G>T (p.=)
c.3144+7G>T (p.=)
c.2091+7G>T (p.=)
c.2937+7G>T (p.=)
c.2457+7G>T (p.=)
dbSNP ExAC gnomAD
12g.47978284C=CA2034476809COL2A1c.2796+7G= (p.=)
c.3003+7G= (p.=)
n.2796+7G= (p.=)
n.2089+7G=
c.3147+7G= (p.=)
c.3144+7G= (p.=)
c.2091+7G= (p.=)
c.2937+7G= (p.=)
c.2457+7G= (p.=)
12g.47978285A=CA2034476810COL2A1c.2796+6T= (p.=)
c.3003+6T= (p.=)
n.2796+6T= (p.=)
n.2089+6T=
c.3147+6T= (p.=)
c.3144+6T= (p.=)
c.2091+6T= (p.=)
c.2937+6T= (p.=)
c.2457+6T= (p.=)
12g.47978285A>CCA2034476811COL2A1c.2796+6T>G (p.=)
c.3003+6T>G (p.=)
n.2796+6T>G (p.=)
n.2089+6T>G
c.3147+6T>G (p.=)
c.3144+6T>G (p.=)
c.2091+6T>G (p.=)
c.2937+6T>G (p.=)
c.2457+6T>G (p.=)
12g.47978289A>CCA384541069COL2A1c.2796+2T>G (p.=)
c.3003+2T>G (p.=)
n.2796+2T>G (p.=)
n.2089+2T>G
c.3147+2T>G (p.=)
c.3144+2T>G (p.=)
c.2091+2T>G (p.=)
c.2937+2T>G (p.=)
c.2457+2T>G (p.=)
12g.47978289A>GCA384541071COL2A1c.2796+2T>C (p.=)
c.3003+2T>C (p.=)
n.2796+2T>C (p.=)
n.2089+2T>C
c.3147+2T>C (p.=)
c.3144+2T>C (p.=)
c.2091+2T>C (p.=)
c.2937+2T>C (p.=)
c.2457+2T>C (p.=)
12g.47978289A>TCA384541072COL2A1c.2796+2T>A (p.=)
c.3003+2T>A (p.=)
n.2796+2T>A (p.=)
n.2089+2T>A
c.3147+2T>A (p.=)
c.3144+2T>A (p.=)
c.2091+2T>A (p.=)
c.2937+2T>A (p.=)
c.2457+2T>A (p.=)
12g.47978290C>ACA384541075COL2A1c.2796+1G>T (p.=)
c.3003+1G>T (p.=)
n.2796+1G>T (p.=)
n.2089+1G>T
c.3147+1G>T (p.=)
c.3144+1G>T (p.=)
c.2091+1G>T (p.=)
c.2937+1G>T (p.=)
c.2457+1G>T (p.=)
12g.47978290C>GCA384541076COL2A1c.2796+1G>C (p.=)
c.3003+1G>C (p.=)
n.2796+1G>C (p.=)
n.2089+1G>C
c.3147+1G>C (p.=)
c.3144+1G>C (p.=)
c.2091+1G>C (p.=)
c.2937+1G>C (p.=)
c.2457+1G>C (p.=)
12g.47978290C>TCA384541078COL2A1c.2796+1G>A (p.=)
c.3003+1G>A (p.=)
n.2796+1G>A (p.=)
n.2089+1G>A
c.3147+1G>A (p.=)
c.3144+1G>A (p.=)
c.2091+1G>A (p.=)
c.2937+1G>A (p.=)
c.2457+1G>A (p.=)
12g.47978291C>ACA479696633COL2A1c.2796G>T (p.Ser932=)
c.3003G>T (p.Ser1001=)
n.2796G>T (p.Ser932=)
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=)
12g.47978291C=CA2034476812COL2A1c.2796G= (p.Ser932=)
c.3003G= (p.Ser1001=)
n.2796G= (p.Ser932=)
n.2089G=
c.3147G= (p.Ser1049=)
c.3144G= (p.Ser1048=)
c.2091G= (p.Ser697=)
c.2937G= (p.Ser979=)
c.2457G= (p.Ser819=)
12g.47978291C>GCA479696631COL2A1c.2796G>C (p.Ser932=)
c.3003G>C (p.Ser1001=)
n.2796G>C (p.Ser932=)
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=)
12g.47978291C>TCA479696632COL2A1c.2796G>A (p.Ser932=)
c.3003G>A (p.Ser1001=)
n.2796G>A (p.Ser932=)
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=)
12g.47978292G>ACA6534932COL2A1c.2795C>T (p.Ser932Leu)
c.3002C>T (p.Ser1001Leu)
n.2795C>T (p.Ser932Leu)
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)
dbSNP ExAC gnomAD COSMIC COSMIC
12g.47978292G>CCA384541083COL2A1c.2795C>G (p.Ser932Trp)
c.3002C>G (p.Ser1001Trp)
n.2795C>G (p.Ser932Trp)
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)
12g.47978292G=CA2034476813COL2A1c.2795C= (p.Ser932=)
c.3002C= (p.Ser1001=)
n.2795C= (p.Ser932=)
n.2088C=
c.3146C= (p.Ser1049=)
c.3143C= (p.Ser1048=)
c.2090C= (p.Ser697=)
c.2936C= (p.Ser979=)
c.2456C= (p.Ser819=)
12g.47978292G>TCA384541081COL2A1c.2795C>A (p.Ser932Ter)
c.3002C>A (p.Ser1001Ter)
n.2795C>A (p.Ser932Ter)
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)
12g.47978293A>CCA384541086COL2A1c.2794T>G (p.Ser932Ala)
c.3001T>G (p.Ser1001Ala)
n.2794T>G (p.Ser932Ala)
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)
12g.47978293A>GCA384541087COL2A1c.2794T>C (p.Ser932Pro)
c.3001T>C (p.Ser1001Pro)
n.2794T>C (p.Ser932Pro)
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)
12g.47978293A>TCA384541089COL2A1c.2794T>A (p.Ser932Thr)
c.3001T>A (p.Ser1001Thr)
n.2794T>A (p.Ser932Thr)
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)
12g.47978294C>ACA479696634COL2A1c.2793G>T (p.Pro931=)
c.3000G>T (p.Pro1000=)
n.2793G>T (p.Pro931=)
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=)
12g.47978294C=CA2034476814COL2A1c.2793G= (p.Pro931=)
c.3000G= (p.Pro1000=)
n.2793G= (p.Pro931=)
n.2086G=
c.3144G= (p.Pro1048=)
c.3141G= (p.Pro1047=)
c.2088G= (p.Pro696=)
c.2934G= (p.Pro978=)
c.2454G= (p.Pro818=)
12g.47978294C>GCA479696635COL2A1c.2793G>C (p.Pro931=)
c.3000G>C (p.Pro1000=)
n.2793G>C (p.Pro931=)
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=)
12g.47978294C>TCA6534933COL2A1c.2793G>A (p.Pro931=)
c.3000G>A (p.Pro1000=)
n.2793G>A (p.Pro931=)
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
12g.47978295G>ACA6534934COL2A1c.2792C>T (p.Pro931Leu)
c.2999C>T (p.Pro1000Leu)
n.2792C>T (p.Pro931Leu)
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)
dbSNP ExAC gnomAD
12g.47978295G>CCA384541094COL2A1c.2792C>G (p.Pro931Arg)
c.2999C>G (p.Pro1000Arg)
n.2792C>G (p.Pro931Arg)
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)
12g.47978295G=CA2034476815COL2A1c.2792C= (p.Pro931=)
c.2999C= (p.Pro1000=)
n.2792C= (p.Pro931=)
n.2085C=
c.3143C= (p.Pro1048=)
c.3140C= (p.Pro1047=)
c.2087C= (p.Pro696=)
c.2933C= (p.Pro978=)
c.2453C= (p.Pro818=)
12g.47978295G>TCA384541095COL2A1c.2792C>A (p.Pro931Gln)
c.2999C>A (p.Pro1000Gln)
n.2792C>A (p.Pro931Gln)
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)
12g.47978296G>ACA384541098COL2A1c.2791C>T (p.Pro931Ser)
c.2998C>T (p.Pro1000Ser)
n.2791C>T (p.Pro931Ser)
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)
12g.47978296G>CCA384541099COL2A1c.2791C>G (p.Pro931Ala)
c.2998C>G (p.Pro1000Ala)
n.2791C>G (p.Pro931Ala)
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)
12g.47978296G>TCA384541100COL2A1c.2791C>A (p.Pro931Thr)
c.2998C>A (p.Pro1000Thr)
n.2791C>A (p.Pro931Thr)
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)
12g.47978297G>ACA6534935COL2A1c.2790C>T (p.Gly930=)
c.2997C>T (p.Gly999=)
n.2790C>T (p.Gly930=)
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
12g.47978297G>CCA6534936COL2A1c.2790C>G (p.Gly930=)
c.2997C>G (p.Gly999=)
n.2790C>G (p.Gly930=)
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
12g.47978297G=CA2034476816COL2A1c.2790C= (p.Gly930=)
c.2997C= (p.Gly999=)
n.2790C= (p.Gly930=)
n.2083C=
c.3141C= (p.Gly1047=)
c.3138C= (p.Gly1046=)
c.2085C= (p.Gly695=)
c.2931C= (p.Gly977=)
c.2451C= (p.Gly817=)
12g.47978297G>TCA479696636COL2A1c.2790C>A (p.Gly930=)
c.2997C>A (p.Gly999=)
n.2790C>A (p.Gly930=)
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=)
gnomAD
12g.47978298C>ACA384541109COL2A1c.2789G>T (p.Gly930Val)
c.2996G>T (p.Gly999Val)
n.2789G>T (p.Gly930Val)
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)
12g.47978298C>GCA384541110COL2A1c.2789G>C (p.Gly930Ala)
c.2996G>C (p.Gly999Ala)
n.2789G>C (p.Gly930Ala)
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)
12g.47978298C>TCA384541107COL2A1c.2789G>A (p.Gly930Asp)
c.2996G>A (p.Gly999Asp)
n.2789G>A (p.Gly930Asp)
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)
12g.47978299C>ACA384541117COL2A1c.2788G>T (p.Gly930Cys)
c.2995G>T (p.Gly999Cys)
n.2788G>T (p.Gly930Cys)
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)
12g.47978299C>GCA384541113COL2A1c.2788G>C (p.Gly930Arg)
c.2995G>C (p.Gly999Arg)
n.2788G>C (p.Gly930Arg)
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)
12g.47978299C>TCA384541115COL2A1c.2788G>A (p.Gly930Ser)
c.2995G>A (p.Gly999Ser)
n.2788G>A (p.Gly930Ser)
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)
12g.47978300A>CCA479696637COL2A1c.2787T>G (p.Pro929=)
c.2994T>G (p.Pro998=)
n.2787T>G (p.Pro929=)
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=)
12g.47978300A>GCA479696638COL2A1c.2787T>C (p.Pro929=)
c.2994T>C (p.Pro998=)
n.2787T>C (p.Pro929=)
n.2080T>C
c.3138T>C (p.Pro1046=)
c.3135T>C (p.Pro1045=)
c.2082T>C (p.Pro694=)
c.2928T>C (p.Pro976=)
c.2448T>C (p.Pro816=)
12g.47978300A>TCA479696639COL2A1c.2787T>A (p.Pro929=)
c.2994T>A (p.Pro998=)
n.2787T>A (p.Pro929=)
n.2080T>A
c.3138T>A (p.Pro1046=)
c.3135T>A (p.Pro1045=)
c.2082T>A (p.Pro694=)
c.2928T>A (p.Pro976=)
c.2448T>A (p.Pro816=)
12g.47978301G>ACA6534937COL2A1c.2786C>T (p.Pro929Leu)
c.2993C>T (p.Pro998Leu)
n.2786C>T (p.Pro929Leu)
n.2079C>T
c.3137C>T (p.Pro1046Leu)
c.3134C>T (p.Pro1045Leu)
c.2081C>T (p.Pro694Leu)
c.2927C>T (p.Pro976Leu)
c.2447C>T (p.Pro816Leu)
dbSNP ExAC gnomAD
12g.47978301G>CCA384541121COL2A1c.2786C>G (p.Pro929Arg)
c.2993C>G (p.Pro998Arg)
n.2786C>G (p.Pro929Arg)
n.2079C>G
c.3137C>G (p.Pro1046Arg)
c.3134C>G (p.Pro1045Arg)
c.2081C>G (p.Pro694Arg)
c.2927C>G (p.Pro976Arg)
c.2447C>G (p.Pro816Arg)
12g.47978301G=CA2034476817COL2A1c.2786C= (p.Pro929=)
c.2993C= (p.Pro998=)
n.2786C= (p.Pro929=)
n.2079C=
c.3137C= (p.Pro1046=)
c.3134C= (p.Pro1045=)
c.2081C= (p.Pro694=)
c.2927C= (p.Pro976=)
c.2447C= (p.Pro816=)

Number of alleles fetched