| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | ClinVar 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) | ClinVar |
| 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=) | |
| 12 | g.47978300A>G | CA479696638 | COL2A1 | c.2787T>C (p.Pro929=) c.2994T>C (p.Pro998=) 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=) | |
| 12 | g.47978300A>T | CA479696639 | COL2A1 | c.2787T>A (p.Pro929=) c.2994T>A (p.Pro998=) 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=) | |
| 12 | g.47978301G>A | CA6534937 | COL2A1 | c.2786C>T (p.Pro929Leu) c.2993C>T (p.Pro998Leu) 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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978301G>C | CA384541121 | COL2A1 | c.2786C>G (p.Pro929Arg) c.2993C>G (p.Pro998Arg) 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) | dbSNP |
| 12 | g.47978301G= | CA2034476817 | COL2A1 | c.2786C= (p.Pro929=) c.2993C= (p.Pro998=) n.2079C= c.3137C= (p.Pro1046=) c.3134C= (p.Pro1045=) c.2081C= (p.Pro694=) c.2927C= (p.Pro976=) c.2447C= (p.Pro816=) | |
| 12 | g.47978301G>T | CA384541123 | COL2A1 | c.2786C>A (p.Pro929His) c.2993C>A (p.Pro998His) n.2079C>A c.3137C>A (p.Pro1046His) c.3134C>A (p.Pro1045His) c.2081C>A (p.Pro694His) c.2927C>A (p.Pro976His) c.2447C>A (p.Pro816His) | |
| 12 | g.47978302G>A | CA384541126 | COL2A1 | c.2785C>T (p.Pro929Ser) c.2992C>T (p.Pro998Ser) n.2078C>T c.3136C>T (p.Pro1046Ser) c.3133C>T (p.Pro1045Ser) c.2080C>T (p.Pro694Ser) c.2926C>T (p.Pro976Ser) c.2446C>T (p.Pro816Ser) | dbSNP gnomAD v2 |
| 12 | g.47978302G>C | CA384541128 | COL2A1 | c.2785C>G (p.Pro929Ala) c.2992C>G (p.Pro998Ala) n.2078C>G c.3136C>G (p.Pro1046Ala) c.3133C>G (p.Pro1045Ala) c.2080C>G (p.Pro694Ala) c.2926C>G (p.Pro976Ala) c.2446C>G (p.Pro816Ala) | |
| 12 | g.47978302G= | CA2034476818 | COL2A1 | c.2785C= (p.Pro929=) c.2992C= (p.Pro998=) n.2078C= c.3136C= (p.Pro1046=) c.3133C= (p.Pro1045=) c.2080C= (p.Pro694=) c.2926C= (p.Pro976=) c.2446C= (p.Pro816=) | |
| 12 | g.47978302G>T | CA6534938 | COL2A1 | c.2785C>A (p.Pro929Thr) c.2992C>A (p.Pro998Thr) n.2078C>A c.3136C>A (p.Pro1046Thr) c.3133C>A (p.Pro1045Thr) c.2080C>A (p.Pro694Thr) c.2926C>A (p.Pro976Thr) c.2446C>A (p.Pro816Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.47978303del | CA2575137425 | COL2A1 | c.2784del (p.Leu928PhefsTer?) c.2991del (p.Leu997PhefsTer?) n.2077del c.3135del (p.Leu1045PhefsTer?) c.3132del (p.Leu1044PhefsTer?) c.2079del (p.Leu693PhefsTer?) c.2925del (p.Leu975PhefsTer?) c.2445del (p.Leu815PhefsTer?) | |
| 12 | g.47978303C>A | CA384541130 | COL2A1 | c.2784G>T (p.Leu928Phe) c.2991G>T (p.Leu997Phe) n.2077G>T c.3135G>T (p.Leu1045Phe) c.3132G>T (p.Leu1044Phe) c.2079G>T (p.Leu693Phe) c.2925G>T (p.Leu975Phe) c.2445G>T (p.Leu815Phe) | dbSNP |
| 12 | g.47978303C= | CA2034476819 | COL2A1 | c.2784G= (p.Leu928=) c.2991G= (p.Leu997=) n.2077G= c.3135G= (p.Leu1045=) c.3132G= (p.Leu1044=) c.2079G= (p.Leu693=) c.2925G= (p.Leu975=) c.2445G= (p.Leu815=) | |
| 12 | g.47978303C>G | CA384541132 | COL2A1 | c.2784G>C (p.Leu928Phe) c.2991G>C (p.Leu997Phe) n.2077G>C c.3135G>C (p.Leu1045Phe) c.3132G>C (p.Leu1044Phe) c.2079G>C (p.Leu693Phe) c.2925G>C (p.Leu975Phe) c.2445G>C (p.Leu815Phe) |