UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.47978303C>T | CA479696640 | COL2A1 | c.2784G>A (p.Leu928=) c.2991G>A (p.Leu997=) n.2077G>A c.3135G>A (p.Leu1045=) c.3132G>A (p.Leu1044=) c.2079G>A (p.Leu693=) c.2925G>A (p.Leu975=) c.2445G>A (p.Leu815=) | |
| 12 | g.47978304A= | CA2034476820 | COL2A1 | c.2783T= (p.Leu928=) c.2990T= (p.Leu997=) n.2076T= c.3134T= (p.Leu1045=) c.3131T= (p.Leu1044=) c.2078T= (p.Leu693=) c.2924T= (p.Leu975=) c.2444T= (p.Leu815=) | |
| 12 | g.47978304A>C | CA384541134 | COL2A1 | c.2783T>G (p.Leu928Trp) c.2990T>G (p.Leu997Trp) n.2076T>G c.3134T>G (p.Leu1045Trp) c.3131T>G (p.Leu1044Trp) c.2078T>G (p.Leu693Trp) c.2924T>G (p.Leu975Trp) c.2444T>G (p.Leu815Trp) | dbSNP gnomAD v4 |
| 12 | g.47978304A>G | CA384541136 | COL2A1 | c.2783T>C (p.Leu928Ser) c.2990T>C (p.Leu997Ser) n.2076T>C c.3134T>C (p.Leu1045Ser) c.3131T>C (p.Leu1044Ser) c.2078T>C (p.Leu693Ser) c.2924T>C (p.Leu975Ser) c.2444T>C (p.Leu815Ser) | |
| 12 | g.47978304A>T | CA384541138 | COL2A1 | c.2783T>A (p.Leu928Ter) c.2990T>A (p.Leu997Ter) n.2076T>A c.3134T>A (p.Leu1045Ter) c.3131T>A (p.Leu1044Ter) c.2078T>A (p.Leu693Ter) c.2924T>A (p.Leu975Ter) c.2444T>A (p.Leu815Ter) | |
| 12 | g.47978305A>C | CA384541140 | COL2A1 | c.2782T>G (p.Leu928Val) c.2989T>G (p.Leu997Val) n.2075T>G c.3133T>G (p.Leu1045Val) c.3130T>G (p.Leu1044Val) c.2077T>G (p.Leu693Val) c.2923T>G (p.Leu975Val) c.2443T>G (p.Leu815Val) | |
| 12 | g.47978305A>G | CA479696641 | COL2A1 | c.2782T>C (p.Leu928=) c.2989T>C (p.Leu997=) n.2075T>C c.3133T>C (p.Leu1045=) c.3130T>C (p.Leu1044=) c.2077T>C (p.Leu693=) c.2923T>C (p.Leu975=) c.2443T>C (p.Leu815=) | |
| 12 | g.47978305A>T | CA384541142 | COL2A1 | c.2782T>A (p.Leu928Met) c.2989T>A (p.Leu997Met) n.2075T>A c.3133T>A (p.Leu1045Met) c.3130T>A (p.Leu1044Met) c.2077T>A (p.Leu693Met) c.2923T>A (p.Leu975Met) c.2443T>A (p.Leu815Met) | |
| 12 | g.47978306G>A | CA479696643 | COL2A1 | c.2781C>T (p.Gly927=) c.2988C>T (p.Gly996=) n.2074C>T c.3132C>T (p.Gly1044=) c.3129C>T (p.Gly1043=) c.2076C>T (p.Gly692=) c.2922C>T (p.Gly974=) c.2442C>T (p.Gly814=) | |
| 12 | g.47978306G>C | CA479696644 | COL2A1 | c.2781C>G (p.Gly927=) c.2988C>G (p.Gly996=) n.2074C>G c.3132C>G (p.Gly1044=) c.3129C>G (p.Gly1043=) c.2076C>G (p.Gly692=) c.2922C>G (p.Gly974=) c.2442C>G (p.Gly814=) | |
| 12 | g.47978306G>T | CA479696642 | COL2A1 | c.2781C>A (p.Gly927=) c.2988C>A (p.Gly996=) n.2074C>A c.3132C>A (p.Gly1044=) c.3129C>A (p.Gly1043=) c.2076C>A (p.Gly692=) c.2922C>A (p.Gly974=) c.2442C>A (p.Gly814=) | gnomAD v4 |
| 12 | g.47978307C>A | CA384541144 | COL2A1 | c.2780G>T (p.Gly927Val) c.2987G>T (p.Gly996Val) n.2073G>T c.3131G>T (p.Gly1044Val) c.3128G>T (p.Gly1043Val) c.2075G>T (p.Gly692Val) c.2921G>T (p.Gly974Val) c.2441G>T (p.Gly814Val) | |
| 12 | g.47978307C>G | CA384541148 | COL2A1 | c.2780G>C (p.Gly927Ala) c.2987G>C (p.Gly996Ala) n.2073G>C c.3131G>C (p.Gly1044Ala) c.3128G>C (p.Gly1043Ala) c.2075G>C (p.Gly692Ala) c.2921G>C (p.Gly974Ala) c.2441G>C (p.Gly814Ala) | |
| 12 | g.47978307C>T | CA384541146 | COL2A1 | c.2780G>A (p.Gly927Asp) c.2987G>A (p.Gly996Asp) n.2073G>A c.3131G>A (p.Gly1044Asp) c.3128G>A (p.Gly1043Asp) c.2075G>A (p.Gly692Asp) c.2921G>A (p.Gly974Asp) c.2441G>A (p.Gly814Asp) | |
| 12 | g.47978308C>A | CA384541151 | COL2A1 | c.2779G>T (p.Gly927Cys) c.2986G>T (p.Gly996Cys) n.2072G>T c.3130G>T (p.Gly1044Cys) c.3127G>T (p.Gly1043Cys) c.2074G>T (p.Gly692Cys) c.2920G>T (p.Gly974Cys) c.2440G>T (p.Gly814Cys) | |
| 12 | g.47978308C>G | CA384541153 | COL2A1 | c.2779G>C (p.Gly927Arg) c.2986G>C (p.Gly996Arg) n.2072G>C c.3130G>C (p.Gly1044Arg) c.3127G>C (p.Gly1043Arg) c.2074G>C (p.Gly692Arg) c.2920G>C (p.Gly974Arg) c.2440G>C (p.Gly814Arg) | |
| 12 | g.47978308C>T | CA384541154 | COL2A1 | c.2779G>A (p.Gly927Ser) c.2986G>A (p.Gly996Ser) n.2072G>A c.3130G>A (p.Gly1044Ser) c.3127G>A (p.Gly1043Ser) c.2074G>A (p.Gly692Ser) c.2920G>A (p.Gly974Ser) c.2440G>A (p.Gly814Ser) | |
| 12 | g.47978309A>C | CA479696645 | COL2A1 | c.2778T>G (p.Pro926=) c.2985T>G (p.Pro995=) n.2071T>G c.3129T>G (p.Pro1043=) c.3126T>G (p.Pro1042=) c.2073T>G (p.Pro691=) c.2919T>G (p.Pro973=) c.2439T>G (p.Pro813=) | |
| 12 | g.47978309A>G | CA479696646 | COL2A1 | c.2778T>C (p.Pro926=) c.2985T>C (p.Pro995=) n.2071T>C c.3129T>C (p.Pro1043=) c.3126T>C (p.Pro1042=) c.2073T>C (p.Pro691=) c.2919T>C (p.Pro973=) c.2439T>C (p.Pro813=) | gnomAD v4 |
| 12 | g.47978309A>T | CA479696647 | COL2A1 | c.2778T>A (p.Pro926=) c.2985T>A (p.Pro995=) n.2071T>A c.3129T>A (p.Pro1043=) c.3126T>A (p.Pro1042=) c.2073T>A (p.Pro691=) c.2919T>A (p.Pro973=) c.2439T>A (p.Pro813=) | |
| 12 | g.47978310G>A | CA384541157 | COL2A1 | c.2777C>T (p.Pro926Leu) c.2984C>T (p.Pro995Leu) n.2070C>T c.3128C>T (p.Pro1043Leu) c.3125C>T (p.Pro1042Leu) c.2072C>T (p.Pro691Leu) c.2918C>T (p.Pro973Leu) c.2438C>T (p.Pro813Leu) | |
| 12 | g.47978310G>C | CA384541158 | COL2A1 | c.2777C>G (p.Pro926Arg) c.2984C>G (p.Pro995Arg) n.2070C>G c.3128C>G (p.Pro1043Arg) c.3125C>G (p.Pro1042Arg) c.2072C>G (p.Pro691Arg) c.2918C>G (p.Pro973Arg) c.2438C>G (p.Pro813Arg) | |
| 12 | g.47978310G>T | CA384541161 | COL2A1 | c.2777C>A (p.Pro926His) c.2984C>A (p.Pro995His) n.2070C>A c.3128C>A (p.Pro1043His) c.3125C>A (p.Pro1042His) c.2072C>A (p.Pro691His) c.2918C>A (p.Pro973His) c.2438C>A (p.Pro813His) | |
| 12 | g.47978311G>A | CA384541163 | COL2A1 | c.2776C>T (p.Pro926Ser) c.2983C>T (p.Pro995Ser) n.2069C>T c.3127C>T (p.Pro1043Ser) c.3124C>T (p.Pro1042Ser) c.2071C>T (p.Pro691Ser) c.2917C>T (p.Pro973Ser) c.2437C>T (p.Pro813Ser) | |
| 12 | g.47978311G>C | CA384541164 | COL2A1 | c.2776C>G (p.Pro926Ala) c.2983C>G (p.Pro995Ala) n.2069C>G c.3127C>G (p.Pro1043Ala) c.3124C>G (p.Pro1042Ala) c.2071C>G (p.Pro691Ala) c.2917C>G (p.Pro973Ala) c.2437C>G (p.Pro813Ala) | |
| 12 | g.47978311G>T | CA384541166 | COL2A1 | c.2776C>A (p.Pro926Thr) c.2983C>A (p.Pro995Thr) n.2069C>A c.3127C>A (p.Pro1043Thr) c.3124C>A (p.Pro1042Thr) c.2071C>A (p.Pro691Thr) c.2917C>A (p.Pro973Thr) c.2437C>A (p.Pro813Thr) | |
| 12 | g.47978312G>A | CA6534939 | COL2A1 | c.2775C>T (p.Phe925=) c.2982C>T (p.Phe994=) n.2068C>T c.3126C>T (p.Phe1042=) c.3123C>T (p.Phe1041=) c.2070C>T (p.Phe690=) c.2916C>T (p.Phe972=) c.2436C>T (p.Phe812=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978312G>C | CA384541170 | COL2A1 | c.2775C>G (p.Phe925Leu) c.2982C>G (p.Phe994Leu) n.2068C>G c.3126C>G (p.Phe1042Leu) c.3123C>G (p.Phe1041Leu) c.2070C>G (p.Phe690Leu) c.2916C>G (p.Phe972Leu) c.2436C>G (p.Phe812Leu) | |
| 12 | g.47978312G= | CA2034476821 | COL2A1 | c.2775C= (p.Phe925=) c.2982C= (p.Phe994=) n.2068C= c.3126C= (p.Phe1042=) c.3123C= (p.Phe1041=) c.2070C= (p.Phe690=) c.2916C= (p.Phe972=) c.2436C= (p.Phe812=) | |
| 12 | g.47978312G>T | CA384541172 | COL2A1 | c.2775C>A (p.Phe925Leu) c.2982C>A (p.Phe994Leu) n.2068C>A c.3126C>A (p.Phe1042Leu) c.3123C>A (p.Phe1041Leu) c.2070C>A (p.Phe690Leu) c.2916C>A (p.Phe972Leu) c.2436C>A (p.Phe812Leu) | |
| 12 | g.47978313A= | CA2034476822 | COL2A1 | c.2774T= (p.Phe925=) c.2981T= (p.Phe994=) n.2067T= c.3125T= (p.Phe1042=) c.3122T= (p.Phe1041=) c.2069T= (p.Phe690=) c.2915T= (p.Phe972=) c.2435T= (p.Phe812=) | |
| 12 | g.47978313A>C | CA384541175 | COL2A1 | c.2774T>G (p.Phe925Cys) c.2981T>G (p.Phe994Cys) n.2067T>G c.3125T>G (p.Phe1042Cys) c.3122T>G (p.Phe1041Cys) c.2069T>G (p.Phe690Cys) c.2915T>G (p.Phe972Cys) c.2435T>G (p.Phe812Cys) | |
| 12 | g.47978313A>G | CA384541179 | COL2A1 | c.2774T>C (p.Phe925Ser) c.2981T>C (p.Phe994Ser) n.2067T>C c.3125T>C (p.Phe1042Ser) c.3122T>C (p.Phe1041Ser) c.2069T>C (p.Phe690Ser) c.2915T>C (p.Phe972Ser) c.2435T>C (p.Phe812Ser) | |
| 12 | g.47978313A>T | CA384541177 | COL2A1 | c.2774T>A (p.Phe925Tyr) c.2981T>A (p.Phe994Tyr) n.2067T>A c.3125T>A (p.Phe1042Tyr) c.3122T>A (p.Phe1041Tyr) c.2069T>A (p.Phe690Tyr) c.2915T>A (p.Phe972Tyr) c.2435T>A (p.Phe812Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978314A= | CA2034476823 | COL2A1 | c.2773T= (p.Phe925=) c.2980T= (p.Phe994=) n.2066T= c.3124T= (p.Phe1042=) c.3121T= (p.Phe1041=) c.2068T= (p.Phe690=) c.2914T= (p.Phe972=) c.2434T= (p.Phe812=) | |
| 12 | g.47978314A>C | CA384541181 | COL2A1 | c.2773T>G (p.Phe925Val) c.2980T>G (p.Phe994Val) n.2066T>G c.3124T>G (p.Phe1042Val) c.3121T>G (p.Phe1041Val) c.2068T>G (p.Phe690Val) c.2914T>G (p.Phe972Val) c.2434T>G (p.Phe812Val) | |
| 12 | g.47978314A>G | CA236521734 | COL2A1 | c.2773T>C (p.Phe925Leu) c.2980T>C (p.Phe994Leu) n.2066T>C c.3124T>C (p.Phe1042Leu) c.3121T>C (p.Phe1041Leu) c.2068T>C (p.Phe690Leu) c.2914T>C (p.Phe972Leu) c.2434T>C (p.Phe812Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978314A>T | CA384541182 | COL2A1 | c.2773T>A (p.Phe925Ile) c.2980T>A (p.Phe994Ile) n.2066T>A c.3124T>A (p.Phe1042Ile) c.3121T>A (p.Phe1041Ile) c.2068T>A (p.Phe690Ile) c.2914T>A (p.Phe972Ile) c.2434T>A (p.Phe812Ile) | |
| 12 | g.47978315T>A | CA479696648 | COL2A1 | c.2772A>T (p.Gly924=) c.2979A>T (p.Gly993=) n.2065A>T c.3123A>T (p.Gly1041=) c.3120A>T (p.Gly1040=) c.2067A>T (p.Gly689=) c.2913A>T (p.Gly971=) c.2433A>T (p.Gly811=) | COSMIC COSMIC |
| 12 | g.47978315T>C | CA479696649 | COL2A1 | c.2772A>G (p.Gly924=) c.2979A>G (p.Gly993=) n.2065A>G c.3123A>G (p.Gly1041=) c.3120A>G (p.Gly1040=) c.2067A>G (p.Gly689=) c.2913A>G (p.Gly971=) c.2433A>G (p.Gly811=) | |
| 12 | g.47978315T>G | CA479696650 | COL2A1 | c.2772A>C (p.Gly924=) c.2979A>C (p.Gly993=) n.2065A>C c.3123A>C (p.Gly1041=) c.3120A>C (p.Gly1040=) c.2067A>C (p.Gly689=) c.2913A>C (p.Gly971=) c.2433A>C (p.Gly811=) | |
| 12 | g.47978316C>A | CA384541185 | COL2A1 | c.2771G>T (p.Gly924Val) c.2978G>T (p.Gly993Val) n.2064G>T c.3122G>T (p.Gly1041Val) c.3119G>T (p.Gly1040Val) c.2066G>T (p.Gly689Val) c.2912G>T (p.Gly971Val) c.2432G>T (p.Gly811Val) | |
| 12 | g.47978316C>G | CA384541187 | COL2A1 | c.2771G>C (p.Gly924Ala) c.2978G>C (p.Gly993Ala) n.2064G>C c.3122G>C (p.Gly1041Ala) c.3119G>C (p.Gly1040Ala) c.2066G>C (p.Gly689Ala) c.2912G>C (p.Gly971Ala) c.2432G>C (p.Gly811Ala) | |
| 12 | g.47978316C>T | CA384541189 | COL2A1 | c.2771G>A (p.Gly924Glu) c.2978G>A (p.Gly993Glu) n.2064G>A c.3122G>A (p.Gly1041Glu) c.3119G>A (p.Gly1040Glu) c.2066G>A (p.Gly689Glu) c.2912G>A (p.Gly971Glu) c.2432G>A (p.Gly811Glu) | |
| 12 | g.47978317C>A | CA384541192 | COL2A1 | c.2770G>T (p.Gly924Ter) c.2977G>T (p.Gly993Ter) n.2063G>T c.3121G>T (p.Gly1041Ter) c.3118G>T (p.Gly1040Ter) c.2065G>T (p.Gly689Ter) c.2911G>T (p.Gly971Ter) c.2431G>T (p.Gly811Ter) | COSMIC COSMIC |
| 12 | g.47978317C>G | CA384541194 | COL2A1 | c.2770G>C (p.Gly924Arg) c.2977G>C (p.Gly993Arg) n.2063G>C c.3121G>C (p.Gly1041Arg) c.3118G>C (p.Gly1040Arg) c.2065G>C (p.Gly689Arg) c.2911G>C (p.Gly971Arg) c.2431G>C (p.Gly811Arg) | |
| 12 | g.47978317C>T | CA384541196 | COL2A1 | c.2770G>A (p.Gly924Arg) c.2977G>A (p.Gly993Arg) n.2063G>A c.3121G>A (p.Gly1041Arg) c.3118G>A (p.Gly1040Arg) c.2065G>A (p.Gly689Arg) c.2911G>A (p.Gly971Arg) c.2431G>A (p.Gly811Arg) | |
| 12 | g.47978322_47978323del | CA2580615171 | COL2A1 | c.2769_2770del (p.Gly924IlefsTer10) c.2976_2977del (p.Gly993IlefsTer10) n.2062_2063del c.3120_3121del (p.Gly1041IlefsTer10) c.3117_3118del (p.Gly1040IlefsTer10) c.2064_2065del (p.Gly689IlefsTer10) c.2910_2911del (p.Gly971IlefsTer10) c.2430_2431del (p.Gly811IlefsTer10) | ClinVar |
| 12 | g.47978318T>A | CA384541198 | COL2A1 | c.2769A>T (p.Arg923Ser) c.2976A>T (p.Arg992Ser) n.2062A>T c.3120A>T (p.Arg1040Ser) c.3117A>T (p.Arg1039Ser) c.2064A>T (p.Arg688Ser) c.2910A>T (p.Arg970Ser) c.2430A>T (p.Arg810Ser) | |
| 12 | g.47978318T>C | CA479696651 | COL2A1 | c.2769A>G (p.Arg923=) c.2976A>G (p.Arg992=) n.2062A>G c.3120A>G (p.Arg1040=) c.3117A>G (p.Arg1039=) c.2064A>G (p.Arg688=) c.2910A>G (p.Arg970=) c.2430A>G (p.Arg810=) | |
| 12 | g.47978318T>G | CA384541199 | COL2A1 | c.2769A>C (p.Arg923Ser) c.2976A>C (p.Arg992Ser) n.2062A>C c.3120A>C (p.Arg1040Ser) c.3117A>C (p.Arg1039Ser) c.2064A>C (p.Arg688Ser) c.2910A>C (p.Arg970Ser) c.2430A>C (p.Arg810Ser) | |
| 12 | g.47978319C>A | CA384541202 | COL2A1 | c.2768G>T (p.Arg923Ile) c.2975G>T (p.Arg992Ile) n.2061G>T c.3119G>T (p.Arg1040Ile) c.3116G>T (p.Arg1039Ile) c.2063G>T (p.Arg688Ile) c.2909G>T (p.Arg970Ile) c.2429G>T (p.Arg810Ile) | |
| 12 | g.47978319C= | CA2034476824 | COL2A1 | c.2768G= (p.Arg923=) c.2975G= (p.Arg992=) n.2061G= c.3119G= (p.Arg1040=) c.3116G= (p.Arg1039=) c.2063G= (p.Arg688=) c.2909G= (p.Arg970=) c.2429G= (p.Arg810=) | |
| 12 | g.47978319C>G | CA384541204 | COL2A1 | c.2768G>C (p.Arg923Thr) c.2975G>C (p.Arg992Thr) n.2061G>C c.3119G>C (p.Arg1040Thr) c.3116G>C (p.Arg1039Thr) c.2063G>C (p.Arg688Thr) c.2909G>C (p.Arg970Thr) c.2429G>C (p.Arg810Thr) | |
| 12 | g.47978319C>T | CA384541205 | COL2A1 | c.2768G>A (p.Arg923Lys) c.2975G>A (p.Arg992Lys) n.2061G>A c.3119G>A (p.Arg1040Lys) c.3116G>A (p.Arg1039Lys) c.2063G>A (p.Arg688Lys) c.2909G>A (p.Arg970Lys) c.2429G>A (p.Arg810Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978320T>A | CA384541207 | COL2A1 | c.2767A>T (p.Arg923Ter) c.2974A>T (p.Arg992Ter) n.2060A>T c.3118A>T (p.Arg1040Ter) c.3115A>T (p.Arg1039Ter) c.2062A>T (p.Arg688Ter) c.2908A>T (p.Arg970Ter) c.2428A>T (p.Arg810Ter) | |
| 12 | g.47978320T>C | CA250688 | COL2A1 | c.2767A>G (p.Arg923Gly) c.2974A>G (p.Arg992Gly) n.2060A>G c.3118A>G (p.Arg1040Gly) c.3115A>G (p.Arg1039Gly) c.2062A>G (p.Arg688Gly) c.2908A>G (p.Arg970Gly) c.2428A>G (p.Arg810Gly) | ClinVar dbSNP |
| 12 | g.47978320T>G | CA479696652 | COL2A1 | c.2767A>C (p.Arg923=) c.2974A>C (p.Arg992=) n.2060A>C c.3118A>C (p.Arg1040=) c.3115A>C (p.Arg1039=) c.2062A>C (p.Arg688=) c.2908A>C (p.Arg970=) c.2428A>C (p.Arg810=) | |
| 12 | g.47978320T= | CA2034476825 | COL2A1 | c.2767A= (p.Arg923=) c.2974A= (p.Arg992=) n.2060A= c.3118A= (p.Arg1040=) c.3115A= (p.Arg1039=) c.2062A= (p.Arg688=) c.2908A= (p.Arg970=) c.2428A= (p.Arg810=) | |
| 12 | g.47978321C>A | CA384541212 | COL2A1 | c.2766G>T (p.Glu922Asp) c.2973G>T (p.Glu991Asp) n.2059G>T c.3117G>T (p.Glu1039Asp) c.3114G>T (p.Glu1038Asp) c.2061G>T (p.Glu687Asp) c.2907G>T (p.Glu969Asp) c.2427G>T (p.Glu809Asp) | |
| 12 | g.47978321C>G | CA384541214 | COL2A1 | c.2766G>C (p.Glu922Asp) c.2973G>C (p.Glu991Asp) n.2059G>C c.3117G>C (p.Glu1039Asp) c.3114G>C (p.Glu1038Asp) c.2061G>C (p.Glu687Asp) c.2907G>C (p.Glu969Asp) c.2427G>C (p.Glu809Asp) | |
| 12 | g.47978321C>T | CA479696653 | COL2A1 | c.2766G>A (p.Glu922=) c.2973G>A (p.Glu991=) n.2059G>A c.3117G>A (p.Glu1039=) c.3114G>A (p.Glu1038=) c.2061G>A (p.Glu687=) c.2907G>A (p.Glu969=) c.2427G>A (p.Glu809=) | |
| 12 | g.47978322T>A | CA384541217 | COL2A1 | c.2765A>T (p.Glu922Val) c.2972A>T (p.Glu991Val) n.2058A>T c.3116A>T (p.Glu1039Val) c.3113A>T (p.Glu1038Val) c.2060A>T (p.Glu687Val) c.2906A>T (p.Glu969Val) c.2426A>T (p.Glu809Val) | |
| 12 | g.47978322T>C | CA384541218 | COL2A1 | c.2765A>G (p.Glu922Gly) c.2972A>G (p.Glu991Gly) n.2058A>G c.3116A>G (p.Glu1039Gly) c.3113A>G (p.Glu1038Gly) c.2060A>G (p.Glu687Gly) c.2906A>G (p.Glu969Gly) c.2426A>G (p.Glu809Gly) | |
| 12 | g.47978322T>G | CA384541221 | COL2A1 | c.2765A>C (p.Glu922Ala) c.2972A>C (p.Glu991Ala) n.2058A>C c.3116A>C (p.Glu1039Ala) c.3113A>C (p.Glu1038Ala) c.2060A>C (p.Glu687Ala) c.2906A>C (p.Glu969Ala) c.2426A>C (p.Glu809Ala) | |
| 12 | g.47978323C>A | CA384541223 | COL2A1 | c.2764G>T (p.Glu922Ter) c.2971G>T (p.Glu991Ter) n.2057G>T c.3115G>T (p.Glu1039Ter) c.3112G>T (p.Glu1038Ter) c.2059G>T (p.Glu687Ter) c.2905G>T (p.Glu969Ter) c.2425G>T (p.Glu809Ter) | |
| 12 | g.47978323C>G | CA384541225 | COL2A1 | c.2764G>C (p.Glu922Gln) c.2971G>C (p.Glu991Gln) n.2057G>C c.3115G>C (p.Glu1039Gln) c.3112G>C (p.Glu1038Gln) c.2059G>C (p.Glu687Gln) c.2905G>C (p.Glu969Gln) c.2425G>C (p.Glu809Gln) | |
| 12 | g.47978323C>T | CA384541226 | COL2A1 | c.2764G>A (p.Glu922Lys) c.2971G>A (p.Glu991Lys) n.2057G>A c.3115G>A (p.Glu1039Lys) c.3112G>A (p.Glu1038Lys) c.2059G>A (p.Glu687Lys) c.2905G>A (p.Glu969Lys) c.2425G>A (p.Glu809Lys) | |
| 12 | g.47978324A>C | CA479696654 | COL2A1 | c.2763T>G (p.Gly921=) c.2970T>G (p.Gly990=) n.2056T>G c.3114T>G (p.Gly1038=) c.3111T>G (p.Gly1037=) c.2058T>G (p.Gly686=) c.2904T>G (p.Gly968=) c.2424T>G (p.Gly808=) | |
| 12 | g.47978324A>G | CA479696655 | COL2A1 | c.2763T>C (p.Gly921=) c.2970T>C (p.Gly990=) n.2056T>C c.3114T>C (p.Gly1038=) c.3111T>C (p.Gly1037=) c.2058T>C (p.Gly686=) c.2904T>C (p.Gly968=) c.2424T>C (p.Gly808=) | |
| 12 | g.47978324A>T | CA479696656 | COL2A1 | c.2763T>A (p.Gly921=) c.2970T>A (p.Gly990=) n.2056T>A c.3114T>A (p.Gly1038=) c.3111T>A (p.Gly1037=) c.2058T>A (p.Gly686=) c.2904T>A (p.Gly968=) c.2424T>A (p.Gly808=) | |
| 12 | g.47978325C>A | CA384541229 | COL2A1 | c.2762G>T (p.Gly921Val) c.2969G>T (p.Gly990Val) n.2055G>T c.3113G>T (p.Gly1038Val) c.3110G>T (p.Gly1037Val) c.2057G>T (p.Gly686Val) c.2903G>T (p.Gly968Val) c.2423G>T (p.Gly808Val) | |
| 12 | g.47978325C>G | CA384541231 | COL2A1 | c.2762G>C (p.Gly921Ala) c.2969G>C (p.Gly990Ala) n.2055G>C c.3113G>C (p.Gly1038Ala) c.3110G>C (p.Gly1037Ala) c.2057G>C (p.Gly686Ala) c.2903G>C (p.Gly968Ala) c.2423G>C (p.Gly808Ala) | |
| 12 | g.47978325C>T | CA384541233 | COL2A1 | c.2762G>A (p.Gly921Asp) c.2969G>A (p.Gly990Asp) n.2055G>A c.3113G>A (p.Gly1038Asp) c.3110G>A (p.Gly1037Asp) c.2057G>A (p.Gly686Asp) c.2903G>A (p.Gly968Asp) c.2423G>A (p.Gly808Asp) | |
| 12 | g.47978326C>A | CA384541239 | COL2A1 | c.2761G>T (p.Gly921Cys) c.2968G>T (p.Gly990Cys) n.2054G>T c.3112G>T (p.Gly1038Cys) c.3109G>T (p.Gly1037Cys) c.2056G>T (p.Gly686Cys) c.2902G>T (p.Gly968Cys) c.2422G>T (p.Gly808Cys) | |
| 12 | g.47978326C>G | CA384541238 | COL2A1 | c.2761G>C (p.Gly921Arg) c.2968G>C (p.Gly990Arg) n.2054G>C c.3112G>C (p.Gly1038Arg) c.3109G>C (p.Gly1037Arg) c.2056G>C (p.Gly686Arg) c.2902G>C (p.Gly968Arg) c.2422G>C (p.Gly808Arg) | |
| 12 | g.47978326C>T | CA384541236 | COL2A1 | c.2761G>A (p.Gly921Ser) c.2968G>A (p.Gly990Ser) n.2054G>A c.3112G>A (p.Gly1038Ser) c.3109G>A (p.Gly1037Ser) c.2056G>A (p.Gly686Ser) c.2902G>A (p.Gly968Ser) c.2422G>A (p.Gly808Ser) | |
| 12 | g.47978327A= | CA2034476826 | COL2A1 | c.2760T= (p.Arg920=) c.2967T= (p.Arg989=) n.2053T= c.3111T= (p.Arg1037=) c.3108T= (p.Arg1036=) c.2055T= (p.Arg685=) c.2901T= (p.Arg967=) c.2421T= (p.Arg807=) | |
| 12 | g.47978327A>C | CA479696658 | COL2A1 | c.2760T>G (p.Arg920=) c.2967T>G (p.Arg989=) n.2053T>G c.3111T>G (p.Arg1037=) c.3108T>G (p.Arg1036=) c.2055T>G (p.Arg685=) c.2901T>G (p.Arg967=) c.2421T>G (p.Arg807=) | |
| 12 | g.47978327A>G | CA479696659 | COL2A1 | c.2760T>C (p.Arg920=) c.2967T>C (p.Arg989=) n.2053T>C c.3111T>C (p.Arg1037=) c.3108T>C (p.Arg1036=) c.2055T>C (p.Arg685=) c.2901T>C (p.Arg967=) c.2421T>C (p.Arg807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978327A>T | CA479696657 | COL2A1 | c.2760T>A (p.Arg920=) c.2967T>A (p.Arg989=) n.2053T>A c.3111T>A (p.Arg1037=) c.3108T>A (p.Arg1036=) c.2055T>A (p.Arg685=) c.2901T>A (p.Arg967=) c.2421T>A (p.Arg807=) | |
| 12 | g.47978328C>A | CA384541242 | COL2A1 | c.2759G>T (p.Arg920Leu) c.2966G>T (p.Arg989Leu) n.2052G>T c.3110G>T (p.Arg1037Leu) c.3107G>T (p.Arg1036Leu) c.2054G>T (p.Arg685Leu) c.2900G>T (p.Arg967Leu) c.2420G>T (p.Arg807Leu) | |
| 12 | g.47978328C= | CA2034476827 | COL2A1 | c.2759G= (p.Arg920=) c.2966G= (p.Arg989=) n.2052G= c.3110G= (p.Arg1037=) c.3107G= (p.Arg1036=) c.2054G= (p.Arg685=) c.2900G= (p.Arg967=) c.2420G= (p.Arg807=) | |
| 12 | g.47978328C>G | CA384541245 | COL2A1 | c.2759G>C (p.Arg920Pro) c.2966G>C (p.Arg989Pro) n.2052G>C c.3110G>C (p.Arg1037Pro) c.3107G>C (p.Arg1036Pro) c.2054G>C (p.Arg685Pro) c.2900G>C (p.Arg967Pro) c.2420G>C (p.Arg807Pro) | |
| 12 | g.47978328C>T | CA6534940 | COL2A1 | c.2759G>A (p.Arg920His) c.2966G>A (p.Arg989His) n.2052G>A c.3110G>A (p.Arg1037His) c.3107G>A (p.Arg1036His) c.2054G>A (p.Arg685His) c.2900G>A (p.Arg967His) c.2420G>A (p.Arg807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978329G>A | CA250676 | COL2A1 | c.2758C>T (p.Arg920Cys) c.2965C>T (p.Arg989Cys) n.2051C>T c.3109C>T (p.Arg1037Cys) c.3106C>T (p.Arg1036Cys) c.2053C>T (p.Arg685Cys) c.2899C>T (p.Arg967Cys) c.2419C>T (p.Arg807Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978329G>C | CA384541248 | COL2A1 | c.2758C>G (p.Arg920Gly) c.2965C>G (p.Arg989Gly) n.2051C>G c.3109C>G (p.Arg1037Gly) c.3106C>G (p.Arg1036Gly) c.2053C>G (p.Arg685Gly) c.2899C>G (p.Arg967Gly) c.2419C>G (p.Arg807Gly) | |
| 12 | g.47978329G= | CA2034476828 | COL2A1 | c.2758C= (p.Arg920=) c.2965C= (p.Arg989=) n.2051C= c.3109C= (p.Arg1037=) c.3106C= (p.Arg1036=) c.2053C= (p.Arg685=) c.2899C= (p.Arg967=) c.2419C= (p.Arg807=) | |
| 12 | g.47978329G>T | CA384541249 | COL2A1 | c.2758C>A (p.Arg920Ser) c.2965C>A (p.Arg989Ser) n.2051C>A c.3109C>A (p.Arg1037Ser) c.3106C>A (p.Arg1036Ser) c.2053C>A (p.Arg685Ser) c.2899C>A (p.Arg967Ser) c.2419C>A (p.Arg807Ser) | |
| 12 | g.47978330T>A | CA384541250 | COL2A1 | c.2757A>T (p.Gln919His) c.2964A>T (p.Gln988His) n.2050A>T c.3108A>T (p.Gln1036His) c.3105A>T (p.Gln1035His) c.2052A>T (p.Gln684His) c.2898A>T (p.Gln966His) c.2418A>T (p.Gln806His) | |
| 12 | g.47978330T>C | CA479696660 | COL2A1 | c.2757A>G (p.Gln919=) c.2964A>G (p.Gln988=) n.2050A>G c.3108A>G (p.Gln1036=) c.3105A>G (p.Gln1035=) c.2052A>G (p.Gln684=) c.2898A>G (p.Gln966=) c.2418A>G (p.Gln806=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978330T>G | CA384541251 | COL2A1 | c.2757A>C (p.Gln919His) c.2964A>C (p.Gln988His) n.2050A>C c.3108A>C (p.Gln1036His) c.3105A>C (p.Gln1035His) c.2052A>C (p.Gln684His) c.2898A>C (p.Gln966His) c.2418A>C (p.Gln806His) | |
| 12 | g.47978331T>A | CA384541254 | COL2A1 | c.2756A>T (p.Gln919Leu) c.2963A>T (p.Gln988Leu) n.2049A>T c.3107A>T (p.Gln1036Leu) c.3104A>T (p.Gln1035Leu) c.2051A>T (p.Gln684Leu) c.2897A>T (p.Gln966Leu) c.2417A>T (p.Gln806Leu) | |
| 12 | g.47978331T>C | CA384541255 | COL2A1 | c.2756A>G (p.Gln919Arg) c.2963A>G (p.Gln988Arg) n.2049A>G c.3107A>G (p.Gln1036Arg) c.3104A>G (p.Gln1035Arg) c.2051A>G (p.Gln684Arg) c.2897A>G (p.Gln966Arg) c.2417A>G (p.Gln806Arg) | |
| 12 | g.47978331T>G | CA384541257 | COL2A1 | c.2756A>C (p.Gln919Pro) c.2963A>C (p.Gln988Pro) n.2049A>C c.3107A>C (p.Gln1036Pro) c.3104A>C (p.Gln1035Pro) c.2051A>C (p.Gln684Pro) c.2897A>C (p.Gln966Pro) c.2417A>C (p.Gln806Pro) | |
| 12 | g.47978332G>A | CA384541260 | COL2A1 | c.2755C>T (p.Gln919Ter) c.2962C>T (p.Gln988Ter) n.2048C>T c.3106C>T (p.Gln1036Ter) c.3103C>T (p.Gln1035Ter) c.2050C>T (p.Gln684Ter) c.2896C>T (p.Gln966Ter) c.2416C>T (p.Gln806Ter) | ClinVar COSMIC COSMIC |
| 12 | g.47978332G>C | CA384541261 | COL2A1 | c.2755C>G (p.Gln919Glu) c.2962C>G (p.Gln988Glu) n.2048C>G c.3106C>G (p.Gln1036Glu) c.3103C>G (p.Gln1035Glu) c.2050C>G (p.Gln684Glu) c.2896C>G (p.Gln966Glu) c.2416C>G (p.Gln806Glu) | |
| 12 | g.47978332G>T | CA384541263 | COL2A1 | c.2755C>A (p.Gln919Lys) c.2962C>A (p.Gln988Lys) n.2048C>A c.3106C>A (p.Gln1036Lys) c.3103C>A (p.Gln1035Lys) c.2050C>A (p.Gln684Lys) c.2896C>A (p.Gln966Lys) c.2416C>A (p.Gln806Lys) | gnomAD v4 |
| 12 | g.47978333C>A | CA479696661 | COL2A1 | c.2754G>T (p.Gly918=) c.2961G>T (p.Gly987=) n.2047G>T c.3105G>T (p.Gly1035=) c.3102G>T (p.Gly1034=) c.2049G>T (p.Gly683=) c.2895G>T (p.Gly965=) c.2415G>T (p.Gly805=) | |
| 12 | g.47978333C= | CA2034476829 | COL2A1 | c.2754G= (p.Gly918=) c.2961G= (p.Gly987=) n.2047G= c.3105G= (p.Gly1035=) c.3102G= (p.Gly1034=) c.2049G= (p.Gly683=) c.2895G= (p.Gly965=) c.2415G= (p.Gly805=) | |
| 12 | g.47978333C>G | CA479696662 | COL2A1 | c.2754G>C (p.Gly918=) c.2961G>C (p.Gly987=) n.2047G>C c.3105G>C (p.Gly1035=) c.3102G>C (p.Gly1034=) c.2049G>C (p.Gly683=) c.2895G>C (p.Gly965=) c.2415G>C (p.Gly805=) | |
| 12 | g.47978333C>T | CA6534941 | COL2A1 | c.2754G>A (p.Gly918=) c.2961G>A (p.Gly987=) n.2047G>A c.3105G>A (p.Gly1035=) c.3102G>A (p.Gly1034=) c.2049G>A (p.Gly683=) c.2895G>A (p.Gly965=) c.2415G>A (p.Gly805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978334C>A | CA384541267 | COL2A1 | c.2753G>T (p.Gly918Val) c.2960G>T (p.Gly987Val) n.2046G>T c.3104G>T (p.Gly1035Val) c.3101G>T (p.Gly1034Val) c.2048G>T (p.Gly683Val) c.2894G>T (p.Gly965Val) c.2414G>T (p.Gly805Val) | |
| 12 | g.47978334C>G | CA384541271 | COL2A1 | c.2753G>C (p.Gly918Ala) c.2960G>C (p.Gly987Ala) n.2046G>C c.3104G>C (p.Gly1035Ala) c.3101G>C (p.Gly1034Ala) c.2048G>C (p.Gly683Ala) c.2894G>C (p.Gly965Ala) c.2414G>C (p.Gly805Ala) | |
| 12 | g.47978334C>T | CA384541269 | COL2A1 | c.2753G>A (p.Gly918Glu) c.2960G>A (p.Gly987Glu) n.2046G>A c.3104G>A (p.Gly1035Glu) c.3101G>A (p.Gly1034Glu) c.2048G>A (p.Gly683Glu) c.2894G>A (p.Gly965Glu) c.2414G>A (p.Gly805Glu) | |
| 12 | g.47978335C>A | CA384541273 | COL2A1 | c.2752G>T (p.Gly918Trp) c.2959G>T (p.Gly987Trp) n.2045G>T c.3103G>T (p.Gly1035Trp) c.3100G>T (p.Gly1034Trp) c.2047G>T (p.Gly683Trp) c.2893G>T (p.Gly965Trp) c.2413G>T (p.Gly805Trp) | |
| 12 | g.47978335C>G | CA384541275 | COL2A1 | c.2752G>C (p.Gly918Arg) c.2959G>C (p.Gly987Arg) n.2045G>C c.3103G>C (p.Gly1035Arg) c.3100G>C (p.Gly1034Arg) c.2047G>C (p.Gly683Arg) c.2893G>C (p.Gly965Arg) c.2413G>C (p.Gly805Arg) | |
| 12 | g.47978335C>T | CA384541277 | COL2A1 | c.2752G>A (p.Gly918Arg) c.2959G>A (p.Gly987Arg) n.2045G>A c.3103G>A (p.Gly1035Arg) c.3100G>A (p.Gly1034Arg) c.2047G>A (p.Gly683Arg) c.2893G>A (p.Gly965Arg) c.2413G>A (p.Gly805Arg) | |
| 12 | g.47978336A>C | CA479696663 | COL2A1 | c.2751T>G (p.Pro917=) c.2958T>G (p.Pro986=) n.2044T>G c.3102T>G (p.Pro1034=) c.3099T>G (p.Pro1033=) c.2046T>G (p.Pro682=) c.2892T>G (p.Pro964=) c.2412T>G (p.Pro804=) | |
| 12 | g.47978336A>G | CA479696664 | COL2A1 | c.2751T>C (p.Pro917=) c.2958T>C (p.Pro986=) n.2044T>C c.3102T>C (p.Pro1034=) c.3099T>C (p.Pro1033=) c.2046T>C (p.Pro682=) c.2892T>C (p.Pro964=) c.2412T>C (p.Pro804=) | |
| 12 | g.47978336A>T | CA479696665 | COL2A1 | c.2751T>A (p.Pro917=) c.2958T>A (p.Pro986=) n.2044T>A c.3102T>A (p.Pro1034=) c.3099T>A (p.Pro1033=) c.2046T>A (p.Pro682=) c.2892T>A (p.Pro964=) c.2412T>A (p.Pro804=) | |
| 12 | g.47978337G>A | CA384541280 | COL2A1 | c.2750C>T (p.Pro917Leu) c.2957C>T (p.Pro986Leu) n.2043C>T c.3101C>T (p.Pro1034Leu) c.3098C>T (p.Pro1033Leu) c.2045C>T (p.Pro682Leu) c.2891C>T (p.Pro964Leu) c.2411C>T (p.Pro804Leu) | |
| 12 | g.47978337G>C | CA384541282 | COL2A1 | c.2750C>G (p.Pro917Arg) c.2957C>G (p.Pro986Arg) n.2043C>G c.3101C>G (p.Pro1034Arg) c.3098C>G (p.Pro1033Arg) c.2045C>G (p.Pro682Arg) c.2891C>G (p.Pro964Arg) c.2411C>G (p.Pro804Arg) | |
| 12 | g.47978337G>T | CA384541284 | COL2A1 | c.2750C>A (p.Pro917His) c.2957C>A (p.Pro986His) n.2043C>A c.3101C>A (p.Pro1034His) c.3098C>A (p.Pro1033His) c.2045C>A (p.Pro682His) c.2891C>A (p.Pro964His) c.2411C>A (p.Pro804His) | |
| 12 | g.47978338G>A | CA384541286 | COL2A1 | c.2749C>T (p.Pro917Ser) c.2956C>T (p.Pro986Ser) n.2042C>T c.3100C>T (p.Pro1034Ser) c.3097C>T (p.Pro1033Ser) c.2044C>T (p.Pro682Ser) c.2890C>T (p.Pro964Ser) c.2410C>T (p.Pro804Ser) | |
| 12 | g.47978338G>C | CA384541288 | COL2A1 | c.2749C>G (p.Pro917Ala) c.2956C>G (p.Pro986Ala) n.2042C>G c.3100C>G (p.Pro1034Ala) c.3097C>G (p.Pro1033Ala) c.2044C>G (p.Pro682Ala) c.2890C>G (p.Pro964Ala) c.2410C>G (p.Pro804Ala) | |
| 12 | g.47978338G>T | CA384541290 | COL2A1 | c.2749C>A (p.Pro917Thr) c.2956C>A (p.Pro986Thr) n.2042C>A c.3100C>A (p.Pro1034Thr) c.3097C>A (p.Pro1033Thr) c.2044C>A (p.Pro682Thr) c.2890C>A (p.Pro964Thr) c.2410C>A (p.Pro804Thr) | |
| 12 | g.47978339C>A | CA479696666 | COL2A1 | c.2748G>T (p.Leu916=) c.2955G>T (p.Leu985=) n.2041G>T c.3099G>T (p.Leu1033=) c.3096G>T (p.Leu1032=) c.2043G>T (p.Leu681=) c.2889G>T (p.Leu963=) c.2409G>T (p.Leu803=) | |
| 12 | g.47978339C= | CA2034476830 | COL2A1 | c.2748G= (p.Leu916=) c.2955G= (p.Leu985=) n.2041G= c.3099G= (p.Leu1033=) c.3096G= (p.Leu1032=) c.2043G= (p.Leu681=) c.2889G= (p.Leu963=) c.2409G= (p.Leu803=) | |
| 12 | g.47978339C>G | CA479696667 | COL2A1 | c.2748G>C (p.Leu916=) c.2955G>C (p.Leu985=) n.2041G>C c.3099G>C (p.Leu1033=) c.3096G>C (p.Leu1032=) c.2043G>C (p.Leu681=) c.2889G>C (p.Leu963=) c.2409G>C (p.Leu803=) | |
| 12 | g.47978339C>T | CA6534942 | COL2A1 | c.2748G>A (p.Leu916=) c.2955G>A (p.Leu985=) n.2041G>A c.3099G>A (p.Leu1033=) c.3096G>A (p.Leu1032=) c.2043G>A (p.Leu681=) c.2889G>A (p.Leu963=) c.2409G>A (p.Leu803=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978340A>C | CA384541295 | COL2A1 | c.2747T>G (p.Leu916Arg) c.2954T>G (p.Leu985Arg) n.2040T>G c.3098T>G (p.Leu1033Arg) c.3095T>G (p.Leu1032Arg) c.2042T>G (p.Leu681Arg) c.2888T>G (p.Leu963Arg) c.2408T>G (p.Leu803Arg) | gnomAD v3 |
| 12 | g.47978340A>G | CA384541298 | COL2A1 | c.2747T>C (p.Leu916Pro) c.2954T>C (p.Leu985Pro) n.2040T>C c.3098T>C (p.Leu1033Pro) c.3095T>C (p.Leu1032Pro) c.2042T>C (p.Leu681Pro) c.2888T>C (p.Leu963Pro) c.2408T>C (p.Leu803Pro) | |
| 12 | g.47978340A>T | CA384541294 | COL2A1 | c.2747T>A (p.Leu916Gln) c.2954T>A (p.Leu985Gln) n.2040T>A c.3098T>A (p.Leu1033Gln) c.3095T>A (p.Leu1032Gln) c.2042T>A (p.Leu681Gln) c.2888T>A (p.Leu963Gln) c.2408T>A (p.Leu803Gln) | |
| 12 | g.47978341G>A | CA479696668 | COL2A1 | c.2746C>T (p.Leu916=) c.2953C>T (p.Leu985=) n.2039C>T c.3097C>T (p.Leu1033=) c.3094C>T (p.Leu1032=) c.2041C>T (p.Leu681=) c.2887C>T (p.Leu963=) c.2407C>T (p.Leu803=) | gnomAD v4 |
| 12 | g.47978341G>C | CA384541300 | COL2A1 | c.2746C>G (p.Leu916Val) c.2953C>G (p.Leu985Val) n.2039C>G c.3097C>G (p.Leu1033Val) c.3094C>G (p.Leu1032Val) c.2041C>G (p.Leu681Val) c.2887C>G (p.Leu963Val) c.2407C>G (p.Leu803Val) | |
| 12 | g.47978341G>T | CA384541302 | COL2A1 | c.2746C>A (p.Leu916Met) c.2953C>A (p.Leu985Met) n.2039C>A c.3097C>A (p.Leu1033Met) c.3094C>A (p.Leu1032Met) c.2041C>A (p.Leu681Met) c.2887C>A (p.Leu963Met) c.2407C>A (p.Leu803Met) | |
| 12 | g.47978342A= | CA2034476831 | COL2A1 | c.2745T= (p.Gly915=) c.2952T= (p.Gly984=) n.2038T= c.3096T= (p.Gly1032=) c.3093T= (p.Gly1031=) c.2040T= (p.Gly680=) c.2886T= (p.Gly962=) c.2406T= (p.Gly802=) | |
| 12 | g.47978342A>C | CA479696669 | COL2A1 | c.2745T>G (p.Gly915=) c.2952T>G (p.Gly984=) n.2038T>G c.3096T>G (p.Gly1032=) c.3093T>G (p.Gly1031=) c.2040T>G (p.Gly680=) c.2886T>G (p.Gly962=) c.2406T>G (p.Gly802=) | |
| 12 | g.47978342A>G | CA479696670 | COL2A1 | c.2745T>C (p.Gly915=) c.2952T>C (p.Gly984=) n.2038T>C c.3096T>C (p.Gly1032=) c.3093T>C (p.Gly1031=) c.2040T>C (p.Gly680=) c.2886T>C (p.Gly962=) c.2406T>C (p.Gly802=) | dbSNP |
| 12 | g.47978342A>T | CA479696671 | COL2A1 | c.2745T>A (p.Gly915=) c.2952T>A (p.Gly984=) n.2038T>A c.3096T>A (p.Gly1032=) c.3093T>A (p.Gly1031=) c.2040T>A (p.Gly680=) c.2886T>A (p.Gly962=) c.2406T>A (p.Gly802=) | |
| 12 | g.47978343C>A | CA384541305 | COL2A1 | c.2744G>T (p.Gly915Val) c.2951G>T (p.Gly984Val) n.2037G>T c.3095G>T (p.Gly1032Val) c.3092G>T (p.Gly1031Val) c.2039G>T (p.Gly680Val) c.2885G>T (p.Gly962Val) c.2405G>T (p.Gly802Val) | |
| 12 | g.47978343C>G | CA384541307 | COL2A1 | c.2744G>C (p.Gly915Ala) c.2951G>C (p.Gly984Ala) n.2037G>C c.3095G>C (p.Gly1032Ala) c.3092G>C (p.Gly1031Ala) c.2039G>C (p.Gly680Ala) c.2885G>C (p.Gly962Ala) c.2405G>C (p.Gly802Ala) | |
| 12 | g.47978343C>T | CA384541309 | COL2A1 | c.2744G>A (p.Gly915Asp) c.2951G>A (p.Gly984Asp) n.2037G>A c.3095G>A (p.Gly1032Asp) c.3092G>A (p.Gly1031Asp) c.2039G>A (p.Gly680Asp) c.2885G>A (p.Gly962Asp) c.2405G>A (p.Gly802Asp) | ClinVar |
| 12 | g.47978344C>A | CA384541311 | COL2A1 | c.2743G>T (p.Gly915Cys) c.2950G>T (p.Gly984Cys) n.2036G>T c.3094G>T (p.Gly1032Cys) c.3091G>T (p.Gly1031Cys) c.2038G>T (p.Gly680Cys) c.2884G>T (p.Gly962Cys) c.2404G>T (p.Gly802Cys) | COSMIC COSMIC |
| 12 | g.47978344C>G | CA384541312 | COL2A1 | c.2743G>C (p.Gly915Arg) c.2950G>C (p.Gly984Arg) n.2036G>C c.3094G>C (p.Gly1032Arg) c.3091G>C (p.Gly1031Arg) c.2038G>C (p.Gly680Arg) c.2884G>C (p.Gly962Arg) c.2404G>C (p.Gly802Arg) | ClinVar dbSNP |
| 12 | g.47978344C>T | CA384541314 | COL2A1 | c.2743G>A (p.Gly915Ser) c.2950G>A (p.Gly984Ser) n.2036G>A c.3094G>A (p.Gly1032Ser) c.3091G>A (p.Gly1031Ser) c.2038G>A (p.Gly680Ser) c.2884G>A (p.Gly962Ser) c.2404G>A (p.Gly802Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978347_47978349del | CA1139771040 | COL2A1 | c.2741_2743del (p.Val914del) c.2948_2950del (p.Val983del) n.2034_2036del c.3092_3094del (p.Val1031del) c.3089_3091del (p.Val1030del) c.2036_2038del (p.Val679del) c.2882_2884del (p.Val961del) c.2402_2404del (p.Val801del) | |
| 12 | g.47978345G>A | CA6534943 | COL2A1 | c.2742C>T (p.Val914=) c.2949C>T (p.Val983=) n.2035C>T c.3093C>T (p.Val1031=) c.3090C>T (p.Val1030=) c.2037C>T (p.Val679=) c.2883C>T (p.Val961=) c.2403C>T (p.Val801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978345G>C | CA479696672 | COL2A1 | c.2742C>G (p.Val914=) c.2949C>G (p.Val983=) n.2035C>G c.3093C>G (p.Val1031=) c.3090C>G (p.Val1030=) c.2037C>G (p.Val679=) c.2883C>G (p.Val961=) c.2403C>G (p.Val801=) | |
| 12 | g.47978345G= | CA2034476832 | COL2A1 | c.2742C= (p.Val914=) c.2949C= (p.Val983=) n.2035C= c.3093C= (p.Val1031=) c.3090C= (p.Val1030=) c.2037C= (p.Val679=) c.2883C= (p.Val961=) c.2403C= (p.Val801=) | |
| 12 | g.47978345G>T | CA479696673 | COL2A1 | c.2742C>A (p.Val914=) c.2949C>A (p.Val983=) n.2035C>A c.3093C>A (p.Val1031=) c.3090C>A (p.Val1030=) c.2037C>A (p.Val679=) c.2883C>A (p.Val961=) c.2403C>A (p.Val801=) | |
| 12 | g.47978346A= | CA2034476833 | COL2A1 | c.2741T= (p.Val914=) c.2948T= (p.Val983=) n.2034T= c.3092T= (p.Val1031=) c.3089T= (p.Val1030=) c.2036T= (p.Val679=) c.2882T= (p.Val961=) c.2402T= (p.Val801=) | |
| 12 | g.47978346A>C | CA384541322 | COL2A1 | c.2741T>G (p.Val914Gly) c.2948T>G (p.Val983Gly) n.2034T>G c.3092T>G (p.Val1031Gly) c.3089T>G (p.Val1030Gly) c.2036T>G (p.Val679Gly) c.2882T>G (p.Val961Gly) c.2402T>G (p.Val801Gly) | |
| 12 | g.47978346A>G | CA384541325 | COL2A1 | c.2741T>C (p.Val914Ala) c.2948T>C (p.Val983Ala) n.2034T>C c.3092T>C (p.Val1031Ala) c.3089T>C (p.Val1030Ala) c.2036T>C (p.Val679Ala) c.2882T>C (p.Val961Ala) c.2402T>C (p.Val801Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978346A>T | CA384541327 | COL2A1 | c.2741T>A (p.Val914Asp) c.2948T>A (p.Val983Asp) n.2034T>A c.3092T>A (p.Val1031Asp) c.3089T>A (p.Val1030Asp) c.2036T>A (p.Val679Asp) c.2882T>A (p.Val961Asp) c.2402T>A (p.Val801Asp) | |
| 12 | g.47978346_47978347dup | CA2580085521 | COL2A1 | c.2740_2741dup (p.Gly915SerfsTer?) c.2947_2948dup (p.Gly984SerfsTer?) n.2033_2034dup c.3091_3092dup (p.Gly1032SerfsTer?) c.3088_3089dup (p.Gly1031SerfsTer?) c.2035_2036dup (p.Gly680SerfsTer?) c.2881_2882dup (p.Gly962SerfsTer?) c.2401_2402dup (p.Gly802SerfsTer?) | ClinVar |
| 12 | g.47978347C>A | CA384541329 | COL2A1 | c.2740G>T (p.Val914Phe) c.2947G>T (p.Val983Phe) n.2033G>T c.3091G>T (p.Val1031Phe) c.3088G>T (p.Val1030Phe) c.2035G>T (p.Val679Phe) c.2881G>T (p.Val961Phe) c.2401G>T (p.Val801Phe) | |
| 12 | g.47978347C= | CA2034476834 | COL2A1 | c.2740G= (p.Val914=) c.2947G= (p.Val983=) n.2033G= c.3091G= (p.Val1031=) c.3088G= (p.Val1030=) c.2035G= (p.Val679=) c.2881G= (p.Val961=) c.2401G= (p.Val801=) | |
| 12 | g.47978347C>G | CA384541332 | COL2A1 | c.2740G>C (p.Val914Leu) c.2947G>C (p.Val983Leu) n.2033G>C c.3091G>C (p.Val1031Leu) c.3088G>C (p.Val1030Leu) c.2035G>C (p.Val679Leu) c.2881G>C (p.Val961Leu) c.2401G>C (p.Val801Leu) | |
| 12 | g.47978347C>T | CA6534944 | COL2A1 | c.2740G>A (p.Val914Ile) c.2947G>A (p.Val983Ile) n.2033G>A c.3091G>A (p.Val1031Ile) c.3088G>A (p.Val1030Ile) c.2035G>A (p.Val679Ile) c.2881G>A (p.Val961Ile) c.2401G>A (p.Val801Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978348G>A | CA6534945 | COL2A1 | c.2739C>T (p.Ile913=) c.2946C>T (p.Ile982=) n.2032C>T c.3090C>T (p.Ile1030=) c.3087C>T (p.Ile1029=) c.2034C>T (p.Ile678=) c.2880C>T (p.Ile960=) c.2400C>T (p.Ile800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978348G>C | CA384541335 | COL2A1 | c.2739C>G (p.Ile913Met) c.2946C>G (p.Ile982Met) n.2032C>G c.3090C>G (p.Ile1030Met) c.3087C>G (p.Ile1029Met) c.2034C>G (p.Ile678Met) c.2880C>G (p.Ile960Met) c.2400C>G (p.Ile800Met) | ClinVar dbSNP |
| 12 | g.47978348G= | CA2034476835 | COL2A1 | c.2739C= (p.Ile913=) c.2946C= (p.Ile982=) n.2032C= c.3090C= (p.Ile1030=) c.3087C= (p.Ile1029=) c.2034C= (p.Ile678=) c.2880C= (p.Ile960=) c.2400C= (p.Ile800=) | |
| 12 | g.47978348G>T | CA479696675 | COL2A1 | c.2739C>A (p.Ile913=) c.2946C>A (p.Ile982=) n.2032C>A c.3090C>A (p.Ile1030=) c.3087C>A (p.Ile1029=) c.2034C>A (p.Ile678=) c.2880C>A (p.Ile960=) c.2400C>A (p.Ile800=) | |
| 12 | g.47978349A>C | CA384541336 | COL2A1 | c.2738T>G (p.Ile913Ser) c.2945T>G (p.Ile982Ser) n.2031T>G c.3089T>G (p.Ile1030Ser) c.3086T>G (p.Ile1029Ser) c.2033T>G (p.Ile678Ser) c.2879T>G (p.Ile960Ser) c.2399T>G (p.Ile800Ser) | |
| 12 | g.47978349A>G | CA384541337 | COL2A1 | c.2738T>C (p.Ile913Thr) c.2945T>C (p.Ile982Thr) n.2031T>C c.3089T>C (p.Ile1030Thr) c.3086T>C (p.Ile1029Thr) c.2033T>C (p.Ile678Thr) c.2879T>C (p.Ile960Thr) c.2399T>C (p.Ile800Thr) | |
| 12 | g.47978349A>T | CA384541338 | COL2A1 | c.2738T>A (p.Ile913Asn) c.2945T>A (p.Ile982Asn) n.2031T>A c.3089T>A (p.Ile1030Asn) c.3086T>A (p.Ile1029Asn) c.2033T>A (p.Ile678Asn) c.2879T>A (p.Ile960Asn) c.2399T>A (p.Ile800Asn) | |
| 12 | g.47978350T>A | CA384541344 | COL2A1 | c.2737A>T (p.Ile913Phe) c.2944A>T (p.Ile982Phe) n.2030A>T c.3088A>T (p.Ile1030Phe) c.3085A>T (p.Ile1029Phe) c.2032A>T (p.Ile678Phe) c.2878A>T (p.Ile960Phe) c.2398A>T (p.Ile800Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978350T>C | CA384541342 | COL2A1 | c.2737A>G (p.Ile913Val) c.2944A>G (p.Ile982Val) n.2030A>G c.3088A>G (p.Ile1030Val) c.3085A>G (p.Ile1029Val) c.2032A>G (p.Ile678Val) c.2878A>G (p.Ile960Val) c.2398A>G (p.Ile800Val) | ClinVar dbSNP |
| 12 | g.47978350T>G | CA384541340 | COL2A1 | c.2737A>C (p.Ile913Leu) c.2944A>C (p.Ile982Leu) n.2030A>C c.3088A>C (p.Ile1030Leu) c.3085A>C (p.Ile1029Leu) c.2032A>C (p.Ile678Leu) c.2878A>C (p.Ile960Leu) c.2398A>C (p.Ile800Leu) | |
| 12 | g.47978350T= | CA2034476836 | COL2A1 | c.2737A= (p.Ile913=) c.2944A= (p.Ile982=) n.2030A= c.3088A= (p.Ile1030=) c.3085A= (p.Ile1029=) c.2032A= (p.Ile678=) c.2878A= (p.Ile960=) c.2398A= (p.Ile800=) | |
| 12 | g.47978351G>A | CA6534946 | COL2A1 | c.2736C>T (p.Gly912=) c.2943C>T (p.Gly981=) n.2029C>T c.3087C>T (p.Gly1029=) c.3084C>T (p.Gly1028=) c.2031C>T (p.Gly677=) c.2877C>T (p.Gly959=) c.2397C>T (p.Gly799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978351G>C | CA479696678 | COL2A1 | c.2736C>G (p.Gly912=) c.2943C>G (p.Gly981=) n.2029C>G c.3087C>G (p.Gly1029=) c.3084C>G (p.Gly1028=) c.2031C>G (p.Gly677=) c.2877C>G (p.Gly959=) c.2397C>G (p.Gly799=) | ClinVar dbSNP |
| 12 | g.47978351G= | CA2034476837 | COL2A1 | c.2736C= (p.Gly912=) c.2943C= (p.Gly981=) n.2029C= c.3087C= (p.Gly1029=) c.3084C= (p.Gly1028=) c.2031C= (p.Gly677=) c.2877C= (p.Gly959=) c.2397C= (p.Gly799=) | |
| 12 | g.47978351G>T | CA479696679 | COL2A1 | c.2736C>A (p.Gly912=) c.2943C>A (p.Gly981=) n.2029C>A c.3087C>A (p.Gly1029=) c.3084C>A (p.Gly1028=) c.2031C>A (p.Gly677=) c.2877C>A (p.Gly959=) c.2397C>A (p.Gly799=) | |
| 12 | g.47978352C>A | CA384541347 | COL2A1 | c.2735G>T (p.Gly912Val) c.2942G>T (p.Gly981Val) n.2028G>T c.3086G>T (p.Gly1029Val) c.3083G>T (p.Gly1028Val) c.2030G>T (p.Gly677Val) c.2876G>T (p.Gly959Val) c.2396G>T (p.Gly799Val) | |
| 12 | g.47978352C= | CA2034476838 | COL2A1 | c.2735G= (p.Gly912=) c.2942G= (p.Gly981=) n.2028G= c.3086G= (p.Gly1029=) c.3083G= (p.Gly1028=) c.2030G= (p.Gly677=) c.2876G= (p.Gly959=) c.2396G= (p.Gly799=) | |
| 12 | g.47978352C>G | CA384541349 | COL2A1 | c.2735G>C (p.Gly912Ala) c.2942G>C (p.Gly981Ala) n.2028G>C c.3086G>C (p.Gly1029Ala) c.3083G>C (p.Gly1028Ala) c.2030G>C (p.Gly677Ala) c.2876G>C (p.Gly959Ala) c.2396G>C (p.Gly799Ala) | |
| 12 | g.47978352C>T | CA384541350 | COL2A1 | c.2735G>A (p.Gly912Asp) c.2942G>A (p.Gly981Asp) n.2028G>A c.3086G>A (p.Gly1029Asp) c.3083G>A (p.Gly1028Asp) c.2030G>A (p.Gly677Asp) c.2876G>A (p.Gly959Asp) c.2396G>A (p.Gly799Asp) | dbSNP gnomAD v2 |
| 12 | g.47978353dup | CA2499221659 | COL2A1 | c.2735dup (p.Ile913HisfsTer10) c.2942dup (p.Ile982HisfsTer10) n.2028dup c.3086dup (p.Ile1030HisfsTer10) c.3083dup (p.Ile1029HisfsTer10) c.2030dup (p.Ile678HisfsTer10) c.2876dup (p.Ile960HisfsTer10) c.2396dup (p.Ile800HisfsTer10) | ClinVar dbSNP |
| 12 | g.47978353C>A | CA384541352 | COL2A1 | c.2734G>T (p.Gly912Cys) c.2941G>T (p.Gly981Cys) n.2027G>T c.3085G>T (p.Gly1029Cys) c.3082G>T (p.Gly1028Cys) c.2029G>T (p.Gly677Cys) c.2875G>T (p.Gly959Cys) c.2395G>T (p.Gly799Cys) | |
| 12 | g.47978353C>G | CA384541358 | COL2A1 | c.2734G>C (p.Gly912Arg) c.2941G>C (p.Gly981Arg) n.2027G>C c.3085G>C (p.Gly1029Arg) c.3082G>C (p.Gly1028Arg) c.2029G>C (p.Gly677Arg) c.2875G>C (p.Gly959Arg) c.2395G>C (p.Gly799Arg) | |
| 12 | g.47978353C>T | CA384541366 | COL2A1 | c.2734G>A (p.Gly912Ser) c.2941G>A (p.Gly981Ser) n.2027G>A c.3085G>A (p.Gly1029Ser) c.3082G>A (p.Gly1028Ser) c.2029G>A (p.Gly677Ser) c.2875G>A (p.Gly959Ser) c.2395G>A (p.Gly799Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978357_47978358del | CA645570666 | COL2A1 | c.2733_2734del (p.Gly912HisfsTer10) c.2940_2941del (p.Gly981HisfsTer10) n.2026_2027del c.3084_3085del (p.Gly1029HisfsTer10) c.3081_3082del (p.Gly1028HisfsTer10) c.2028_2029del (p.Gly677HisfsTer10) c.2874_2875del (p.Gly959HisfsTer10) c.2394_2395del (p.Gly799HisfsTer10) | COSMIC COSMIC |
| 12 | g.47978354T>A | CA384541372 | COL2A1 | c.2733A>T (p.Arg911Ser) c.2940A>T (p.Arg980Ser) n.2026A>T c.3084A>T (p.Arg1028Ser) c.3081A>T (p.Arg1027Ser) c.2028A>T (p.Arg676Ser) c.2874A>T (p.Arg958Ser) c.2394A>T (p.Arg798Ser) | |
| 12 | g.47978354T>C | CA479696683 | COL2A1 | c.2733A>G (p.Arg911=) c.2940A>G (p.Arg980=) n.2026A>G c.3084A>G (p.Arg1028=) c.3081A>G (p.Arg1027=) c.2028A>G (p.Arg676=) c.2874A>G (p.Arg958=) c.2394A>G (p.Arg798=) | |
| 12 | g.47978354T>G | CA384541369 | COL2A1 | c.2733A>C (p.Arg911Ser) c.2940A>C (p.Arg980Ser) n.2026A>C c.3084A>C (p.Arg1028Ser) c.3081A>C (p.Arg1027Ser) c.2028A>C (p.Arg676Ser) c.2874A>C (p.Arg958Ser) c.2394A>C (p.Arg798Ser) | |
| 12 | g.47978355C>A | CA384541384 | COL2A1 | c.2732G>T (p.Arg911Ile) c.2939G>T (p.Arg980Ile) n.2025G>T c.3083G>T (p.Arg1028Ile) c.3080G>T (p.Arg1027Ile) c.2027G>T (p.Arg676Ile) c.2873G>T (p.Arg958Ile) c.2393G>T (p.Arg798Ile) | |
| 12 | g.47978355C= | CA2034476839 | COL2A1 | c.2732G= (p.Arg911=) c.2939G= (p.Arg980=) n.2025G= c.3083G= (p.Arg1028=) c.3080G= (p.Arg1027=) c.2027G= (p.Arg676=) c.2873G= (p.Arg958=) c.2393G= (p.Arg798=) | |
| 12 | g.47978355C>G | CA384541389 | COL2A1 | c.2732G>C (p.Arg911Thr) c.2939G>C (p.Arg980Thr) n.2025G>C c.3083G>C (p.Arg1028Thr) c.3080G>C (p.Arg1027Thr) c.2027G>C (p.Arg676Thr) c.2873G>C (p.Arg958Thr) c.2393G>C (p.Arg798Thr) | ClinVar dbSNP |
| 12 | g.47978355C>T | CA384541387 | COL2A1 | c.2732G>A (p.Arg911Lys) c.2939G>A (p.Arg980Lys) n.2025G>A c.3083G>A (p.Arg1028Lys) c.3080G>A (p.Arg1027Lys) c.2027G>A (p.Arg676Lys) c.2873G>A (p.Arg958Lys) c.2393G>A (p.Arg798Lys) | ClinVar dbSNP |
| 12 | g.47978356T>A | CA384541390 | COL2A1 | c.2731A>T (p.Arg911Ter) c.2938A>T (p.Arg980Ter) n.2024A>T c.3082A>T (p.Arg1028Ter) c.3079A>T (p.Arg1027Ter) c.2026A>T (p.Arg676Ter) c.2872A>T (p.Arg958Ter) c.2392A>T (p.Arg798Ter) | |
| 12 | g.47978356T>C | CA384541391 | COL2A1 | c.2731A>G (p.Arg911Gly) c.2938A>G (p.Arg980Gly) n.2024A>G c.3082A>G (p.Arg1028Gly) c.3079A>G (p.Arg1027Gly) c.2026A>G (p.Arg676Gly) c.2872A>G (p.Arg958Gly) c.2392A>G (p.Arg798Gly) | |
| 12 | g.47978356T>G | CA479696685 | COL2A1 | c.2731A>C (p.Arg911=) c.2938A>C (p.Arg980=) n.2024A>C c.3082A>C (p.Arg1028=) c.3079A>C (p.Arg1027=) c.2026A>C (p.Arg676=) c.2872A>C (p.Arg958=) c.2392A>C (p.Arg798=) | |
| 12 | g.47978357C>A | CA384541393 | COL2A1 | c.2730G>T (p.Gln910His) c.2937G>T (p.Gln979His) n.2023G>T c.3081G>T (p.Gln1027His) c.3078G>T (p.Gln1026His) c.2025G>T (p.Gln675His) c.2871G>T (p.Gln957His) c.2391G>T (p.Gln797His) | |
| 12 | g.47978357C>G | CA384541395 | COL2A1 | c.2730G>C (p.Gln910His) c.2937G>C (p.Gln979His) n.2023G>C c.3081G>C (p.Gln1027His) c.3078G>C (p.Gln1026His) c.2025G>C (p.Gln675His) c.2871G>C (p.Gln957His) c.2391G>C (p.Gln797His) | |
| 12 | g.47978357C>T | CA479696689 | COL2A1 | c.2730G>A (p.Gln910=) c.2937G>A (p.Gln979=) n.2023G>A c.3081G>A (p.Gln1027=) c.3078G>A (p.Gln1026=) c.2025G>A (p.Gln675=) c.2871G>A (p.Gln957=) c.2391G>A (p.Gln797=) | |
| 12 | g.47978358T>A | CA384541399 | COL2A1 | c.2729A>T (p.Gln910Leu) c.2936A>T (p.Gln979Leu) n.2022A>T c.3080A>T (p.Gln1027Leu) c.3077A>T (p.Gln1026Leu) c.2024A>T (p.Gln675Leu) c.2870A>T (p.Gln957Leu) c.2390A>T (p.Gln797Leu) | |
| 12 | g.47978358T>C | CA384541401 | COL2A1 | c.2729A>G (p.Gln910Arg) c.2936A>G (p.Gln979Arg) n.2022A>G c.3080A>G (p.Gln1027Arg) c.3077A>G (p.Gln1026Arg) c.2024A>G (p.Gln675Arg) c.2870A>G (p.Gln957Arg) c.2390A>G (p.Gln797Arg) | |
| 12 | g.47978358T>G | CA384541404 | COL2A1 | c.2729A>C (p.Gln910Pro) c.2936A>C (p.Gln979Pro) n.2022A>C c.3080A>C (p.Gln1027Pro) c.3077A>C (p.Gln1026Pro) c.2024A>C (p.Gln675Pro) c.2870A>C (p.Gln957Pro) c.2390A>C (p.Gln797Pro) | |
| 12 | g.47978359G>A | CA384541407 | COL2A1 | c.2728C>T (p.Gln910Ter) c.2935C>T (p.Gln979Ter) n.2021C>T c.3079C>T (p.Gln1027Ter) c.3076C>T (p.Gln1026Ter) c.2023C>T (p.Gln675Ter) c.2869C>T (p.Gln957Ter) c.2389C>T (p.Gln797Ter) | |
| 12 | g.47978359G>C | CA384541410 | COL2A1 | c.2728C>G (p.Gln910Glu) c.2935C>G (p.Gln979Glu) n.2021C>G c.3079C>G (p.Gln1027Glu) c.3076C>G (p.Gln1026Glu) c.2023C>G (p.Gln675Glu) c.2869C>G (p.Gln957Glu) c.2389C>G (p.Gln797Glu) | |
| 12 | g.47978359G>T | CA384541412 | COL2A1 | c.2728C>A (p.Gln910Lys) c.2935C>A (p.Gln979Lys) n.2021C>A c.3079C>A (p.Gln1027Lys) c.3076C>A (p.Gln1026Lys) c.2023C>A (p.Gln675Lys) c.2869C>A (p.Gln957Lys) c.2389C>A (p.Gln797Lys) | |
| 12 | g.47978359_47978360delinsGA | CA2034476840 | COL2A1 | c.2727_2728delinsTC (p.Gly909=) c.2934_2935delinsTC (p.Gly978=) n.2020_2021delinsTC c.3078_3079delinsTC (p.Gly1026=) c.3075_3076delinsTC (p.Gly1025=) c.2022_2023delinsTC (p.Gly674=) c.2868_2869delinsTC (p.Gly956=) c.2388_2389delinsTC (p.Gly796=) | |
| 12 | g.47978360del | CA916083300 | COL2A1 | c.2727del (p.Gln910ArgfsTer?) c.2934del (p.Gln979ArgfsTer?) n.2020del c.3078del (p.Gln1027ArgfsTer?) c.3075del (p.Gln1026ArgfsTer?) c.2022del (p.Gln675ArgfsTer?) c.2868del (p.Gln957ArgfsTer?) c.2388del (p.Gln797ArgfsTer?) | ClinVar dbSNP |
| 12 | g.47978360A= | CA2034476841 | COL2A1 | c.2727T= (p.Gly909=) c.2934T= (p.Gly978=) n.2020T= c.3078T= (p.Gly1026=) c.3075T= (p.Gly1025=) c.2022T= (p.Gly674=) c.2868T= (p.Gly956=) c.2388T= (p.Gly796=) | |
| 12 | g.47978360A>C | CA479696693 | COL2A1 | c.2727T>G (p.Gly909=) c.2934T>G (p.Gly978=) n.2020T>G c.3078T>G (p.Gly1026=) c.3075T>G (p.Gly1025=) c.2022T>G (p.Gly674=) c.2868T>G (p.Gly956=) c.2388T>G (p.Gly796=) | dbSNP |
| 12 | g.47978360A>G | CA479696694 | COL2A1 | c.2727T>C (p.Gly909=) c.2934T>C (p.Gly978=) n.2020T>C c.3078T>C (p.Gly1026=) c.3075T>C (p.Gly1025=) c.2022T>C (p.Gly674=) c.2868T>C (p.Gly956=) c.2388T>C (p.Gly796=) | |
| 12 | g.47978360A>T | CA479696695 | COL2A1 | c.2727T>A (p.Gly909=) c.2934T>A (p.Gly978=) n.2020T>A c.3078T>A (p.Gly1026=) c.3075T>A (p.Gly1025=) c.2022T>A (p.Gly674=) c.2868T>A (p.Gly956=) c.2388T>A (p.Gly796=) | |
| 12 | g.47978360_47978361delinsAC | CA2034476842 | COL2A1 | c.2726_2727delinsGT (p.Gly909=) c.2933_2934delinsGT (p.Gly978=) n.2019_2020delinsGT c.3077_3078delinsGT (p.Gly1026=) c.3074_3075delinsGT (p.Gly1025=) c.2021_2022delinsGT (p.Gly674=) c.2867_2868delinsGT (p.Gly956=) c.2387_2388delinsGT (p.Gly796=) | |
| 12 | g.47978361C>A | CA384541413 | COL2A1 | c.2726G>T (p.Gly909Val) c.2933G>T (p.Gly978Val) n.2019G>T c.3077G>T (p.Gly1026Val) c.3074G>T (p.Gly1025Val) c.2021G>T (p.Gly674Val) c.2867G>T (p.Gly956Val) c.2387G>T (p.Gly796Val) | |
| 12 | g.47978361C>G | CA384541414 | COL2A1 | c.2726G>C (p.Gly909Ala) c.2933G>C (p.Gly978Ala) n.2019G>C c.3077G>C (p.Gly1026Ala) c.3074G>C (p.Gly1025Ala) c.2021G>C (p.Gly674Ala) c.2867G>C (p.Gly956Ala) c.2387G>C (p.Gly796Ala) | |
| 12 | g.47978361C>T | CA384541415 | COL2A1 | c.2726G>A (p.Gly909Asp) c.2933G>A (p.Gly978Asp) n.2019G>A c.3077G>A (p.Gly1026Asp) c.3074G>A (p.Gly1025Asp) c.2021G>A (p.Gly674Asp) c.2867G>A (p.Gly956Asp) c.2387G>A (p.Gly796Asp) | |
| 12 | g.47978361_47978362delinsTT | CA645570667 | COL2A1 | c.2725_2726delinsAA (p.Gly909Asn) c.2932_2933delinsAA (p.Gly978Asn) n.2018_2019delinsAA c.3076_3077delinsAA (p.Gly1026Asn) c.3073_3074delinsAA (p.Gly1025Asn) c.2020_2021delinsAA (p.Gly674Asn) c.2866_2867delinsAA (p.Gly956Asn) c.2386_2387delinsAA (p.Gly796Asn) | COSMIC COSMIC |
| 12 | g.47978362del | CA916083301 | COL2A1 | c.2726del (p.Gly909ValfsTer?) c.2933del (p.Gly978ValfsTer?) n.2019del c.3077del (p.Gly1026ValfsTer?) c.3074del (p.Gly1025ValfsTer?) c.2021del (p.Gly674ValfsTer?) c.2867del (p.Gly956ValfsTer?) c.2387del (p.Gly796ValfsTer?) | ClinVar dbSNP |
| 12 | g.47978362C>A | CA384541421 | COL2A1 | c.2725G>T (p.Gly909Cys) c.2932G>T (p.Gly978Cys) n.2018G>T c.3076G>T (p.Gly1026Cys) c.3073G>T (p.Gly1025Cys) c.2020G>T (p.Gly674Cys) c.2866G>T (p.Gly956Cys) c.2386G>T (p.Gly796Cys) | |
| 12 | g.47978362C>G | CA384541419 | COL2A1 | c.2725G>C (p.Gly909Arg) c.2932G>C (p.Gly978Arg) n.2018G>C c.3076G>C (p.Gly1026Arg) c.3073G>C (p.Gly1025Arg) c.2020G>C (p.Gly674Arg) c.2866G>C (p.Gly956Arg) c.2386G>C (p.Gly796Arg) | |
| 12 | g.47978362C>T | CA384541417 | COL2A1 | c.2725G>A (p.Gly909Ser) c.2932G>A (p.Gly978Ser) n.2018G>A c.3076G>A (p.Gly1026Ser) c.3073G>A (p.Gly1025Ser) c.2020G>A (p.Gly674Ser) c.2866G>A (p.Gly956Ser) c.2386G>A (p.Gly796Ser) | |
| 12 | g.47978363A>C | CA479696700 | COL2A1 | c.2724T>G (p.Ala908=) c.2931T>G (p.Ala977=) n.2017T>G c.3075T>G (p.Ala1025=) c.3072T>G (p.Ala1024=) c.2019T>G (p.Ala673=) c.2865T>G (p.Ala955=) c.2385T>G (p.Ala795=) | |
| 12 | g.47978363A>G | CA479696701 | COL2A1 | c.2724T>C (p.Ala908=) c.2931T>C (p.Ala977=) n.2017T>C c.3075T>C (p.Ala1025=) c.3072T>C (p.Ala1024=) c.2019T>C (p.Ala673=) c.2865T>C (p.Ala955=) c.2385T>C (p.Ala795=) | gnomAD v4 |
| 12 | g.47978363A>T | CA479696702 | COL2A1 | c.2724T>A (p.Ala908=) c.2931T>A (p.Ala977=) n.2017T>A c.3075T>A (p.Ala1025=) c.3072T>A (p.Ala1024=) c.2019T>A (p.Ala673=) c.2865T>A (p.Ala955=) c.2385T>A (p.Ala795=) | |
| 12 | g.47978364G>A | CA384541424 | COL2A1 | c.2723C>T (p.Ala908Val) c.2930C>T (p.Ala977Val) n.2016C>T c.3074C>T (p.Ala1025Val) c.3071C>T (p.Ala1024Val) c.2018C>T (p.Ala673Val) c.2864C>T (p.Ala955Val) c.2384C>T (p.Ala795Val) | |
| 12 | g.47978364G>C | CA384541427 | COL2A1 | c.2723C>G (p.Ala908Gly) c.2930C>G (p.Ala977Gly) n.2016C>G c.3074C>G (p.Ala1025Gly) c.3071C>G (p.Ala1024Gly) c.2018C>G (p.Ala673Gly) c.2864C>G (p.Ala955Gly) c.2384C>G (p.Ala795Gly) | |
| 12 | g.47978364G>T | CA384541428 | COL2A1 | c.2723C>A (p.Ala908Asp) c.2930C>A (p.Ala977Asp) n.2016C>A c.3074C>A (p.Ala1025Asp) c.3071C>A (p.Ala1024Asp) c.2018C>A (p.Ala673Asp) c.2864C>A (p.Ala955Asp) c.2384C>A (p.Ala795Asp) | dbSNP gnomAD v4 |
| 12 | g.47978365C>A | CA384541430 | COL2A1 | c.2722G>T (p.Ala908Ser) c.2929G>T (p.Ala977Ser) n.2015G>T c.3073G>T (p.Ala1025Ser) c.3070G>T (p.Ala1024Ser) c.2017G>T (p.Ala673Ser) c.2863G>T (p.Ala955Ser) c.2383G>T (p.Ala795Ser) | |
| 12 | g.47978365C= | CA2034476843 | COL2A1 | c.2722G= (p.Ala908=) c.2929G= (p.Ala977=) n.2015G= c.3073G= (p.Ala1025=) c.3070G= (p.Ala1024=) c.2017G= (p.Ala673=) c.2863G= (p.Ala955=) c.2383G= (p.Ala795=) | |
| 12 | g.47978365C>G | CA384541432 | COL2A1 | c.2722G>C (p.Ala908Pro) c.2929G>C (p.Ala977Pro) n.2015G>C c.3073G>C (p.Ala1025Pro) c.3070G>C (p.Ala1024Pro) c.2017G>C (p.Ala673Pro) c.2863G>C (p.Ala955Pro) c.2383G>C (p.Ala795Pro) | |
| 12 | g.47978365C>T | CA384541434 | COL2A1 | c.2722G>A (p.Ala908Thr) c.2929G>A (p.Ala977Thr) n.2015G>A c.3073G>A (p.Ala1025Thr) c.3070G>A (p.Ala1024Thr) c.2017G>A (p.Ala673Thr) c.2863G>A (p.Ala955Thr) c.2383G>A (p.Ala795Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978366C>A | CA479696705 | COL2A1 | c.2721G>T (p.Leu907=) c.2928G>T (p.Leu976=) n.2014G>T c.3072G>T (p.Leu1024=) c.3069G>T (p.Leu1023=) c.2016G>T (p.Leu672=) c.2862G>T (p.Leu954=) c.2382G>T (p.Leu794=) | |
| 12 | g.47978366C>G | CA479696706 | COL2A1 | c.2721G>C (p.Leu907=) c.2928G>C (p.Leu976=) n.2014G>C c.3072G>C (p.Leu1024=) c.3069G>C (p.Leu1023=) c.2016G>C (p.Leu672=) c.2862G>C (p.Leu954=) c.2382G>C (p.Leu794=) | |
| 12 | g.47978366C>T | CA479696707 | COL2A1 | c.2721G>A (p.Leu907=) c.2928G>A (p.Leu976=) n.2014G>A c.3072G>A (p.Leu1024=) c.3069G>A (p.Leu1023=) c.2016G>A (p.Leu672=) c.2862G>A (p.Leu954=) c.2382G>A (p.Leu794=) | ClinVar dbSNP |
| 12 | g.47978367A>C | CA384541438 | COL2A1 | c.2720T>G (p.Leu907Arg) c.2927T>G (p.Leu976Arg) n.2013T>G c.3071T>G (p.Leu1024Arg) c.3068T>G (p.Leu1023Arg) c.2015T>G (p.Leu672Arg) c.2861T>G (p.Leu954Arg) c.2381T>G (p.Leu794Arg) | |
| 12 | g.47978367A>G | CA384541439 | COL2A1 | c.2720T>C (p.Leu907Pro) c.2927T>C (p.Leu976Pro) n.2013T>C c.3071T>C (p.Leu1024Pro) c.3068T>C (p.Leu1023Pro) c.2015T>C (p.Leu672Pro) c.2861T>C (p.Leu954Pro) c.2381T>C (p.Leu794Pro) | |
| 12 | g.47978367A>T | CA384541442 | COL2A1 | c.2720T>A (p.Leu907Gln) c.2927T>A (p.Leu976Gln) n.2013T>A c.3071T>A (p.Leu1024Gln) c.3068T>A (p.Leu1023Gln) c.2015T>A (p.Leu672Gln) c.2861T>A (p.Leu954Gln) c.2381T>A (p.Leu794Gln) | |
| 12 | g.47978368G>A | CA479696710 | COL2A1 | c.2719C>T (p.Leu907=) c.2926C>T (p.Leu976=) n.2012C>T c.3070C>T (p.Leu1024=) c.3067C>T (p.Leu1023=) c.2014C>T (p.Leu672=) c.2860C>T (p.Leu954=) c.2380C>T (p.Leu794=) | gnomAD v4 |
| 12 | g.47978368G>C | CA384541446 | COL2A1 | c.2719C>G (p.Leu907Val) c.2926C>G (p.Leu976Val) n.2012C>G c.3070C>G (p.Leu1024Val) c.3067C>G (p.Leu1023Val) c.2014C>G (p.Leu672Val) c.2860C>G (p.Leu954Val) c.2380C>G (p.Leu794Val) | |
| 12 | g.47978368G>T | CA384541448 | COL2A1 | c.2719C>A (p.Leu907Met) c.2926C>A (p.Leu976Met) n.2012C>A c.3070C>A (p.Leu1024Met) c.3067C>A (p.Leu1023Met) c.2014C>A (p.Leu672Met) c.2860C>A (p.Leu954Met) c.2380C>A (p.Leu794Met) | |
| 12 | g.47978372_47978380del | CA2573148638 | COL2A1 | c.2711_2719del (p.Pro904_Gly906del) c.2918_2926del (p.Pro973_Gly975del) n.2004_2012del c.3062_3070del (p.Pro1021_Gly1023del) c.3059_3067del (p.Pro1020_Gly1022del) c.2006_2014del (p.Pro669_Gly671del) c.2852_2860del (p.Pro951_Gly953del) c.2372_2380del (p.Pro791_Gly793del) | ClinVar dbSNP |
| 12 | g.47978369A>C | CA479696716 | COL2A1 | c.2718T>G (p.Gly906=) c.2925T>G (p.Gly975=) n.2011T>G c.3069T>G (p.Gly1023=) c.3066T>G (p.Gly1022=) c.2013T>G (p.Gly671=) c.2859T>G (p.Gly953=) c.2379T>G (p.Gly793=) | |
| 12 | g.47978369A>G | CA479696715 | COL2A1 | c.2718T>C (p.Gly906=) c.2925T>C (p.Gly975=) n.2011T>C c.3069T>C (p.Gly1023=) c.3066T>C (p.Gly1022=) c.2013T>C (p.Gly671=) c.2859T>C (p.Gly953=) c.2379T>C (p.Gly793=) | |
| 12 | g.47978369A>T | CA479696713 | COL2A1 | c.2718T>A (p.Gly906=) c.2925T>A (p.Gly975=) n.2011T>A c.3069T>A (p.Gly1023=) c.3066T>A (p.Gly1022=) c.2013T>A (p.Gly671=) c.2859T>A (p.Gly953=) c.2379T>A (p.Gly793=) | |
| 12 | g.47978370C>A | CA384541449 | COL2A1 | c.2717G>T (p.Gly906Val) c.2924G>T (p.Gly975Val) n.2010G>T c.3068G>T (p.Gly1023Val) c.3065G>T (p.Gly1022Val) c.2012G>T (p.Gly671Val) c.2858G>T (p.Gly953Val) c.2378G>T (p.Gly793Val) | |
| 12 | g.47978370C>G | CA384541450 | COL2A1 | c.2717G>C (p.Gly906Ala) c.2924G>C (p.Gly975Ala) n.2010G>C c.3068G>C (p.Gly1023Ala) c.3065G>C (p.Gly1022Ala) c.2012G>C (p.Gly671Ala) c.2858G>C (p.Gly953Ala) c.2378G>C (p.Gly793Ala) | |
| 12 | g.47978370C>T | CA384541451 | COL2A1 | c.2717G>A (p.Gly906Asp) c.2924G>A (p.Gly975Asp) n.2010G>A c.3068G>A (p.Gly1023Asp) c.3065G>A (p.Gly1022Asp) c.2012G>A (p.Gly671Asp) c.2858G>A (p.Gly953Asp) c.2378G>A (p.Gly793Asp) | |
| 12 | g.47978371C>A | CA384541461 | COL2A1 | c.2716G>T (p.Gly906Cys) c.2923G>T (p.Gly975Cys) n.2009G>T c.3067G>T (p.Gly1023Cys) c.3064G>T (p.Gly1022Cys) c.2011G>T (p.Gly671Cys) c.2857G>T (p.Gly953Cys) c.2377G>T (p.Gly793Cys) | |
| 12 | g.47978371C>G | CA384541454 | COL2A1 | c.2716G>C (p.Gly906Arg) c.2923G>C (p.Gly975Arg) n.2009G>C c.3067G>C (p.Gly1023Arg) c.3064G>C (p.Gly1022Arg) c.2011G>C (p.Gly671Arg) c.2857G>C (p.Gly953Arg) c.2377G>C (p.Gly793Arg) | |
| 12 | g.47978371C>T | CA384541453 | COL2A1 | c.2716G>A (p.Gly906Ser) c.2923G>A (p.Gly975Ser) n.2009G>A c.3067G>A (p.Gly1023Ser) c.3064G>A (p.Gly1022Ser) c.2011G>A (p.Gly671Ser) c.2857G>A (p.Gly953Ser) c.2377G>A (p.Gly793Ser) | |
| 12 | g.47978372C>A | CA384541463 | COL2A1 | c.2715G>T (p.Gln905His) c.2922G>T (p.Gln974His) n.2008G>T c.3066G>T (p.Gln1022His) c.3063G>T (p.Gln1021His) c.2010G>T (p.Gln670His) c.2856G>T (p.Gln952His) c.2376G>T (p.Gln792His) | |
| 12 | g.47978372C>G | CA384541466 | COL2A1 | c.2715G>C (p.Gln905His) c.2922G>C (p.Gln974His) n.2008G>C c.3066G>C (p.Gln1022His) c.3063G>C (p.Gln1021His) c.2010G>C (p.Gln670His) c.2856G>C (p.Gln952His) c.2376G>C (p.Gln792His) | |
| 12 | g.47978372C>T | CA479696720 | COL2A1 | c.2715G>A (p.Gln905=) c.2922G>A (p.Gln974=) n.2008G>A c.3066G>A (p.Gln1022=) c.3063G>A (p.Gln1021=) c.2010G>A (p.Gln670=) c.2856G>A (p.Gln952=) c.2376G>A (p.Gln792=) | |
| 12 | g.47978373T>A | CA384541468 | COL2A1 | c.2714A>T (p.Gln905Leu) c.2921A>T (p.Gln974Leu) n.2007A>T c.3065A>T (p.Gln1022Leu) c.3062A>T (p.Gln1021Leu) c.2009A>T (p.Gln670Leu) c.2855A>T (p.Gln952Leu) c.2375A>T (p.Gln792Leu) | |
| 12 | g.47978373T>C | CA6534947 | COL2A1 | c.2714A>G (p.Gln905Arg) c.2921A>G (p.Gln974Arg) n.2007A>G c.3065A>G (p.Gln1022Arg) c.3062A>G (p.Gln1021Arg) c.2009A>G (p.Gln670Arg) c.2855A>G (p.Gln952Arg) c.2375A>G (p.Gln792Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978373T>G | CA384541469 | COL2A1 | c.2714A>C (p.Gln905Pro) c.2921A>C (p.Gln974Pro) n.2007A>C c.3065A>C (p.Gln1022Pro) c.3062A>C (p.Gln1021Pro) c.2009A>C (p.Gln670Pro) c.2855A>C (p.Gln952Pro) c.2375A>C (p.Gln792Pro) | |
| 12 | g.47978373T= | CA2034476844 | COL2A1 | c.2714A= (p.Gln905=) c.2921A= (p.Gln974=) n.2007A= c.3065A= (p.Gln1022=) c.3062A= (p.Gln1021=) c.2009A= (p.Gln670=) c.2855A= (p.Gln952=) c.2375A= (p.Gln792=) | |
| 12 | g.47978374G>A | CA384541476 | COL2A1 | c.2713C>T (p.Gln905Ter) c.2920C>T (p.Gln974Ter) n.2006C>T c.3064C>T (p.Gln1022Ter) c.3061C>T (p.Gln1021Ter) c.2008C>T (p.Gln670Ter) c.2854C>T (p.Gln952Ter) c.2374C>T (p.Gln792Ter) | ClinVar |
| 12 | g.47978374G>C | CA384541473 | COL2A1 | c.2713C>G (p.Gln905Glu) c.2920C>G (p.Gln974Glu) n.2006C>G c.3064C>G (p.Gln1022Glu) c.3061C>G (p.Gln1021Glu) c.2008C>G (p.Gln670Glu) c.2854C>G (p.Gln952Glu) c.2374C>G (p.Gln792Glu) | |
| 12 | g.47978374G>T | CA384541470 | COL2A1 | c.2713C>A (p.Gln905Lys) c.2920C>A (p.Gln974Lys) n.2006C>A c.3064C>A (p.Gln1022Lys) c.3061C>A (p.Gln1021Lys) c.2008C>A (p.Gln670Lys) c.2854C>A (p.Gln952Lys) c.2374C>A (p.Gln792Lys) | |
| 12 | g.47978377del | CA2573050748 | COL2A1 | c.2713del (p.Gln905ArgfsTer?) c.2920del (p.Gln974ArgfsTer?) n.2006del c.3064del (p.Gln1022ArgfsTer?) c.3061del (p.Gln1021ArgfsTer?) c.2008del (p.Gln670ArgfsTer?) c.2854del (p.Gln952ArgfsTer?) c.2374del (p.Gln792ArgfsTer?) | ClinVar |
| 12 | g.47978375G>A | CA479696727 | COL2A1 | c.2712C>T (p.Pro904=) c.2919C>T (p.Pro973=) n.2005C>T c.3063C>T (p.Pro1021=) c.3060C>T (p.Pro1020=) c.2007C>T (p.Pro669=) c.2853C>T (p.Pro951=) c.2373C>T (p.Pro791=) | |
| 12 | g.47978375G>C | CA479696729 | COL2A1 | c.2712C>G (p.Pro904=) c.2919C>G (p.Pro973=) n.2005C>G c.3063C>G (p.Pro1021=) c.3060C>G (p.Pro1020=) c.2007C>G (p.Pro669=) c.2853C>G (p.Pro951=) c.2373C>G (p.Pro791=) | |
| 12 | g.47978375G>T | CA479696728 | COL2A1 | c.2712C>A (p.Pro904=) c.2919C>A (p.Pro973=) n.2005C>A c.3063C>A (p.Pro1021=) c.3060C>A (p.Pro1020=) c.2007C>A (p.Pro669=) c.2853C>A (p.Pro951=) c.2373C>A (p.Pro791=) | |
| 12 | g.47978376G>A | CA384541479 | COL2A1 | c.2711C>T (p.Pro904Leu) c.2918C>T (p.Pro973Leu) n.2004C>T c.3062C>T (p.Pro1021Leu) c.3059C>T (p.Pro1020Leu) c.2006C>T (p.Pro669Leu) c.2852C>T (p.Pro951Leu) c.2372C>T (p.Pro791Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978376G>C | CA384541481 | COL2A1 | c.2711C>G (p.Pro904Arg) c.2918C>G (p.Pro973Arg) n.2004C>G c.3062C>G (p.Pro1021Arg) c.3059C>G (p.Pro1020Arg) c.2006C>G (p.Pro669Arg) c.2852C>G (p.Pro951Arg) c.2372C>G (p.Pro791Arg) | |
| 12 | g.47978376G= | CA2034476845 | COL2A1 | c.2711C= (p.Pro904=) c.2918C= (p.Pro973=) n.2004C= c.3062C= (p.Pro1021=) c.3059C= (p.Pro1020=) c.2006C= (p.Pro669=) c.2852C= (p.Pro951=) c.2372C= (p.Pro791=) | |
| 12 | g.47978376G>T | CA384541484 | COL2A1 | c.2711C>A (p.Pro904His) c.2918C>A (p.Pro973His) n.2004C>A c.3062C>A (p.Pro1021His) c.3059C>A (p.Pro1020His) c.2006C>A (p.Pro669His) c.2852C>A (p.Pro951His) c.2372C>A (p.Pro791His) | ClinVar dbSNP |
| 12 | g.47978382_47978390del | CA2499221660 | COL2A1 | c.2703_2711del (p.Pro902_Pro904del) c.2910_2918del (p.Pro971_Pro973del) n.1996_2004del c.3054_3062del (p.Pro1019_Pro1021del) c.3051_3059del (p.Pro1018_Pro1020del) c.1998_2006del (p.Pro667_Pro669del) c.2844_2852del (p.Pro949_Pro951del) c.2364_2372del (p.Pro789_Pro791del) | ClinVar dbSNP |
| 12 | g.47978377G>A | CA384541495 | COL2A1 | c.2710C>T (p.Pro904Ser) c.2917C>T (p.Pro973Ser) n.2003C>T c.3061C>T (p.Pro1021Ser) c.3058C>T (p.Pro1020Ser) c.2005C>T (p.Pro669Ser) c.2851C>T (p.Pro951Ser) c.2371C>T (p.Pro791Ser) | |
| 12 | g.47978377G>C | CA384541498 | COL2A1 | c.2710C>G (p.Pro904Ala) c.2917C>G (p.Pro973Ala) n.2003C>G c.3061C>G (p.Pro1021Ala) c.3058C>G (p.Pro1020Ala) c.2005C>G (p.Pro669Ala) c.2851C>G (p.Pro951Ala) c.2371C>G (p.Pro791Ala) | |
| 12 | g.47978377G>T | CA384541501 | COL2A1 | c.2710C>A (p.Pro904Thr) c.2917C>A (p.Pro973Thr) n.2003C>A c.3061C>A (p.Pro1021Thr) c.3058C>A (p.Pro1020Thr) c.2005C>A (p.Pro669Thr) c.2851C>A (p.Pro951Thr) c.2371C>A (p.Pro791Thr) | |
| 12 | g.47978378A= | CA2034476846 | COL2A1 | c.2709T= (p.Gly903=) c.2916T= (p.Gly972=) n.2002T= c.3060T= (p.Gly1020=) c.3057T= (p.Gly1019=) c.2004T= (p.Gly668=) c.2850T= (p.Gly950=) c.2370T= (p.Gly790=) | |
| 12 | g.47978378A>C | CA479696736 | COL2A1 | c.2709T>G (p.Gly903=) c.2916T>G (p.Gly972=) n.2002T>G c.3060T>G (p.Gly1020=) c.3057T>G (p.Gly1019=) c.2004T>G (p.Gly668=) c.2850T>G (p.Gly950=) c.2370T>G (p.Gly790=) | gnomAD v4 |
| 12 | g.47978378A>G | CA479696737 | COL2A1 | c.2709T>C (p.Gly903=) c.2916T>C (p.Gly972=) n.2002T>C c.3060T>C (p.Gly1020=) c.3057T>C (p.Gly1019=) c.2004T>C (p.Gly668=) c.2850T>C (p.Gly950=) c.2370T>C (p.Gly790=) | dbSNP |
| 12 | g.47978378A>T | CA479696738 | COL2A1 | c.2709T>A (p.Gly903=) c.2916T>A (p.Gly972=) n.2002T>A c.3060T>A (p.Gly1020=) c.3057T>A (p.Gly1019=) c.2004T>A (p.Gly668=) c.2850T>A (p.Gly950=) c.2370T>A (p.Gly790=) | |
| 12 | g.47978379C>A | CA384541509 | COL2A1 | c.2708G>T (p.Gly903Val) c.2915G>T (p.Gly972Val) n.2001G>T c.3059G>T (p.Gly1020Val) c.3056G>T (p.Gly1019Val) c.2003G>T (p.Gly668Val) c.2849G>T (p.Gly950Val) c.2369G>T (p.Gly790Val) | |
| 12 | g.47978379C>G | CA384541504 | COL2A1 | c.2708G>C (p.Gly903Ala) c.2915G>C (p.Gly972Ala) n.2001G>C c.3059G>C (p.Gly1020Ala) c.3056G>C (p.Gly1019Ala) c.2003G>C (p.Gly668Ala) c.2849G>C (p.Gly950Ala) c.2369G>C (p.Gly790Ala) | |
| 12 | g.47978379C>T | CA384541506 | COL2A1 | c.2708G>A (p.Gly903Asp) c.2915G>A (p.Gly972Asp) n.2001G>A c.3059G>A (p.Gly1020Asp) c.3056G>A (p.Gly1019Asp) c.2003G>A (p.Gly668Asp) c.2849G>A (p.Gly950Asp) c.2369G>A (p.Gly790Asp) | |
| 12 | g.47978380C>A | CA384541515 | COL2A1 | c.2707G>T (p.Gly903Cys) c.2914G>T (p.Gly972Cys) n.2000G>T c.3058G>T (p.Gly1020Cys) c.3055G>T (p.Gly1019Cys) c.2002G>T (p.Gly668Cys) c.2848G>T (p.Gly950Cys) c.2368G>T (p.Gly790Cys) | |
| 12 | g.47978380C>G | CA384541517 | COL2A1 | c.2707G>C (p.Gly903Arg) c.2914G>C (p.Gly972Arg) n.2000G>C c.3058G>C (p.Gly1020Arg) c.3055G>C (p.Gly1019Arg) c.2002G>C (p.Gly668Arg) c.2848G>C (p.Gly950Arg) c.2368G>C (p.Gly790Arg) | |
| 12 | g.47978380C>T | CA384541521 | COL2A1 | c.2707G>A (p.Gly903Ser) c.2914G>A (p.Gly972Ser) n.2000G>A c.3058G>A (p.Gly1020Ser) c.3055G>A (p.Gly1019Ser) c.2002G>A (p.Gly668Ser) c.2848G>A (p.Gly950Ser) c.2368G>A (p.Gly790Ser) | |
| 12 | g.47978381T>A | CA479696740 | COL2A1 | c.2706A>T (p.Pro902=) c.2913A>T (p.Pro971=) n.1999A>T c.3057A>T (p.Pro1019=) c.3054A>T (p.Pro1018=) c.2001A>T (p.Pro667=) c.2847A>T (p.Pro949=) c.2367A>T (p.Pro789=) | |
| 12 | g.47978381T>C | CA479696741 | COL2A1 | c.2706A>G (p.Pro902=) c.2913A>G (p.Pro971=) n.1999A>G c.3057A>G (p.Pro1019=) c.3054A>G (p.Pro1018=) c.2001A>G (p.Pro667=) c.2847A>G (p.Pro949=) c.2367A>G (p.Pro789=) | |
| 12 | g.47978381T>G | CA479696743 | COL2A1 | c.2706A>C (p.Pro902=) c.2913A>C (p.Pro971=) n.1999A>C c.3057A>C (p.Pro1019=) c.3054A>C (p.Pro1018=) c.2001A>C (p.Pro667=) c.2847A>C (p.Pro949=) c.2367A>C (p.Pro789=) | |
| 12 | g.47978382G>A | CA384541524 | COL2A1 | c.2705C>T (p.Pro902Leu) c.2912C>T (p.Pro971Leu) n.1998C>T c.3056C>T (p.Pro1019Leu) c.3053C>T (p.Pro1018Leu) c.2000C>T (p.Pro667Leu) c.2846C>T (p.Pro949Leu) c.2366C>T (p.Pro789Leu) | |
| 12 | g.47978382G>C | CA384541526 | COL2A1 | c.2705C>G (p.Pro902Arg) c.2912C>G (p.Pro971Arg) n.1998C>G c.3056C>G (p.Pro1019Arg) c.3053C>G (p.Pro1018Arg) c.2000C>G (p.Pro667Arg) c.2846C>G (p.Pro949Arg) c.2366C>G (p.Pro789Arg) | |
| 12 | g.47978382G>T | CA384541529 | COL2A1 | c.2705C>A (p.Pro902Gln) c.2912C>A (p.Pro971Gln) n.1998C>A c.3056C>A (p.Pro1019Gln) c.3053C>A (p.Pro1018Gln) c.2000C>A (p.Pro667Gln) c.2846C>A (p.Pro949Gln) c.2366C>A (p.Pro789Gln) | |
| 12 | g.47978383G>A | CA384541532 | COL2A1 | c.2704C>T (p.Pro902Ser) c.2911C>T (p.Pro971Ser) n.1997C>T c.3055C>T (p.Pro1019Ser) c.3052C>T (p.Pro1018Ser) c.1999C>T (p.Pro667Ser) c.2845C>T (p.Pro949Ser) c.2365C>T (p.Pro789Ser) | |
| 12 | g.47978383G>C | CA384541541 | COL2A1 | c.2704C>G (p.Pro902Ala) c.2911C>G (p.Pro971Ala) n.1997C>G c.3055C>G (p.Pro1019Ala) c.3052C>G (p.Pro1018Ala) c.1999C>G (p.Pro667Ala) c.2845C>G (p.Pro949Ala) c.2365C>G (p.Pro789Ala) | |
| 12 | g.47978383G>T | CA384541542 | COL2A1 | c.2704C>A (p.Pro902Thr) c.2911C>A (p.Pro971Thr) n.1997C>A c.3055C>A (p.Pro1019Thr) c.3052C>A (p.Pro1018Thr) c.1999C>A (p.Pro667Thr) c.2845C>A (p.Pro949Thr) c.2365C>A (p.Pro789Thr) | |
| 12 | g.47978383_47978391dup | CA2618500466 | COL2A1 | c.2696_2704dup (p.Pro901_Pro902insGlnGlyPro) c.2903_2911dup (p.Pro970_Pro971insGlnGlyPro) n.1989_1997dup c.3047_3055dup (p.Pro1018_Pro1019insGlnGlyPro) c.3044_3052dup (p.Pro1017_Pro1018insGlnGlyPro) c.1991_1999dup (p.Pro666_Pro667insGlnGlyPro) c.2837_2845dup (p.Pro948_Pro949insGlnGlyPro) c.2357_2365dup (p.Pro788_Pro789insGlnGlyPro) | gnomAD v4 |
| 12 | g.47978384T>A | CA479696747 | COL2A1 | c.2703A>T (p.Pro901=) c.2910A>T (p.Pro970=) n.1996A>T c.3054A>T (p.Pro1018=) c.3051A>T (p.Pro1017=) c.1998A>T (p.Pro666=) c.2844A>T (p.Pro948=) c.2364A>T (p.Pro788=) | |
| 12 | g.47978384T>C | CA479696748 | COL2A1 | c.2703A>G (p.Pro901=) c.2910A>G (p.Pro970=) n.1996A>G c.3054A>G (p.Pro1018=) c.3051A>G (p.Pro1017=) c.1998A>G (p.Pro666=) c.2844A>G (p.Pro948=) c.2364A>G (p.Pro788=) | |
| 12 | g.47978384T>G | CA479696749 | COL2A1 | c.2703A>C (p.Pro901=) c.2910A>C (p.Pro970=) n.1996A>C c.3054A>C (p.Pro1018=) c.3051A>C (p.Pro1017=) c.1998A>C (p.Pro666=) c.2844A>C (p.Pro948=) c.2364A>C (p.Pro788=) | |
| 12 | g.47978384T= | CA2034476847 | COL2A1 | c.2703A= (p.Pro901=) c.2910A= (p.Pro970=) n.1996A= c.3054A= (p.Pro1018=) c.3051A= (p.Pro1017=) c.1998A= (p.Pro666=) c.2844A= (p.Pro948=) c.2364A= (p.Pro788=) | |
| 12 | g.47978385G>A | CA6534948 | COL2A1 | c.2702C>T (p.Pro901Leu) c.2909C>T (p.Pro970Leu) n.1995C>T c.3053C>T (p.Pro1018Leu) c.3050C>T (p.Pro1017Leu) c.1997C>T (p.Pro666Leu) c.2843C>T (p.Pro948Leu) c.2363C>T (p.Pro788Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978385G>C | CA384541547 | COL2A1 | c.2702C>G (p.Pro901Arg) c.2909C>G (p.Pro970Arg) n.1995C>G c.3053C>G (p.Pro1018Arg) c.3050C>G (p.Pro1017Arg) c.1997C>G (p.Pro666Arg) c.2843C>G (p.Pro948Arg) c.2363C>G (p.Pro788Arg) | |
| 12 | g.47978385G= | CA2034476848 | COL2A1 | c.2702C= (p.Pro901=) c.2909C= (p.Pro970=) n.1995C= c.3053C= (p.Pro1018=) c.3050C= (p.Pro1017=) c.1997C= (p.Pro666=) c.2843C= (p.Pro948=) c.2363C= (p.Pro788=) | |
| 12 | g.47978385G>T | CA384541549 | COL2A1 | c.2702C>A (p.Pro901Gln) c.2909C>A (p.Pro970Gln) n.1995C>A c.3053C>A (p.Pro1018Gln) c.3050C>A (p.Pro1017Gln) c.1997C>A (p.Pro666Gln) c.2843C>A (p.Pro948Gln) c.2363C>A (p.Pro788Gln) | gnomAD v4 |
| 12 | g.47978385_47978386dup | CA915948409 | COL2A1 | c.2701_2702dup (p.Pro902HisfsTer?) c.2908_2909dup (p.Pro971HisfsTer?) n.1994_1995dup c.3052_3053dup (p.Pro1019HisfsTer?) c.3049_3050dup (p.Pro1018HisfsTer?) c.1996_1997dup (p.Pro667HisfsTer?) c.2842_2843dup (p.Pro949HisfsTer?) c.2362_2363dup (p.Pro789HisfsTer?) | ClinVar dbSNP |
| 12 | g.47978386G>A | CA384541552 | COL2A1 | c.2701C>T (p.Pro901Ser) c.2908C>T (p.Pro970Ser) n.1994C>T c.3052C>T (p.Pro1018Ser) c.3049C>T (p.Pro1017Ser) c.1996C>T (p.Pro666Ser) c.2842C>T (p.Pro948Ser) c.2362C>T (p.Pro788Ser) | |
| 12 | g.47978386G>C | CA384541554 | COL2A1 | c.2701C>G (p.Pro901Ala) c.2908C>G (p.Pro970Ala) n.1994C>G c.3052C>G (p.Pro1018Ala) c.3049C>G (p.Pro1017Ala) c.1996C>G (p.Pro666Ala) c.2842C>G (p.Pro948Ala) c.2362C>G (p.Pro788Ala) | |
| 12 | g.47978386G>T | CA384541553 | COL2A1 | c.2701C>A (p.Pro901Thr) c.2908C>A (p.Pro970Thr) n.1994C>A c.3052C>A (p.Pro1018Thr) c.3049C>A (p.Pro1017Thr) c.1996C>A (p.Pro666Thr) c.2842C>A (p.Pro948Thr) c.2362C>A (p.Pro788Thr) | |
| 12 | g.47978387A>C | CA479696752 | COL2A1 | c.2700T>G (p.Gly900=) c.2907T>G (p.Gly969=) n.1993T>G c.3051T>G (p.Gly1017=) c.3048T>G (p.Gly1016=) c.1995T>G (p.Gly665=) c.2841T>G (p.Gly947=) c.2361T>G (p.Gly787=) | |
| 12 | g.47978387A>G | CA479696754 | COL2A1 | c.2700T>C (p.Gly900=) c.2907T>C (p.Gly969=) n.1993T>C c.3051T>C (p.Gly1017=) c.3048T>C (p.Gly1016=) c.1995T>C (p.Gly665=) c.2841T>C (p.Gly947=) c.2361T>C (p.Gly787=) | gnomAD v4 |
| 12 | g.47978387A>T | CA479696755 | COL2A1 | c.2700T>A (p.Gly900=) c.2907T>A (p.Gly969=) n.1993T>A c.3051T>A (p.Gly1017=) c.3048T>A (p.Gly1016=) c.1995T>A (p.Gly665=) c.2841T>A (p.Gly947=) c.2361T>A (p.Gly787=) | |
| 12 | g.47978388C>A | CA384541555 | COL2A1 | c.2699G>T (p.Gly900Val) c.2906G>T (p.Gly969Val) n.1992G>T c.3050G>T (p.Gly1017Val) c.3047G>T (p.Gly1016Val) c.1994G>T (p.Gly665Val) c.2840G>T (p.Gly947Val) c.2360G>T (p.Gly787Val) | |
| 12 | g.47978388C>G | CA384541560 | COL2A1 | c.2699G>C (p.Gly900Ala) c.2906G>C (p.Gly969Ala) n.1992G>C c.3050G>C (p.Gly1017Ala) c.3047G>C (p.Gly1016Ala) c.1994G>C (p.Gly665Ala) c.2840G>C (p.Gly947Ala) c.2360G>C (p.Gly787Ala) | |
| 12 | g.47978388C>T | CA384541557 | COL2A1 | c.2699G>A (p.Gly900Asp) c.2906G>A (p.Gly969Asp) n.1992G>A c.3050G>A (p.Gly1017Asp) c.3047G>A (p.Gly1016Asp) c.1994G>A (p.Gly665Asp) c.2840G>A (p.Gly947Asp) c.2360G>A (p.Gly787Asp) | |
| 12 | g.47978389C>A | CA384541564 | COL2A1 | c.2698G>T (p.Gly900Cys) c.2905G>T (p.Gly969Cys) n.1991G>T c.3049G>T (p.Gly1017Cys) c.3046G>T (p.Gly1016Cys) c.1993G>T (p.Gly665Cys) c.2839G>T (p.Gly947Cys) c.2359G>T (p.Gly787Cys) | |
| 12 | g.47978389C= | CA2034476849 | COL2A1 | c.2698G= (p.Gly900=) c.2905G= (p.Gly969=) n.1991G= c.3049G= (p.Gly1017=) c.3046G= (p.Gly1016=) c.1993G= (p.Gly665=) c.2839G= (p.Gly947=) c.2359G= (p.Gly787=) | |
| 12 | g.47978389C>G | CA384541568 | COL2A1 | c.2698G>C (p.Gly900Arg) c.2905G>C (p.Gly969Arg) n.1991G>C c.3049G>C (p.Gly1017Arg) c.3046G>C (p.Gly1016Arg) c.1993G>C (p.Gly665Arg) c.2839G>C (p.Gly947Arg) c.2359G>C (p.Gly787Arg) | |
| 12 | g.47978389C>T | CA250680 | COL2A1 | c.2698G>A (p.Gly900Ser) c.2905G>A (p.Gly969Ser) n.1991G>A c.3049G>A (p.Gly1017Ser) c.3046G>A (p.Gly1016Ser) c.1993G>A (p.Gly665Ser) c.2839G>A (p.Gly947Ser) c.2359G>A (p.Gly787Ser) | ClinVar dbSNP |
| 12 | g.47978390T>A | CA384541571 | COL2A1 | c.2697A>T (p.Glu899Asp) c.2904A>T (p.Glu968Asp) n.1990A>T c.3048A>T (p.Glu1016Asp) c.3045A>T (p.Glu1015Asp) c.1992A>T (p.Glu664Asp) c.2838A>T (p.Glu946Asp) c.2358A>T (p.Glu786Asp) | |
| 12 | g.47978390T>C | CA479696759 | COL2A1 | c.2697A>G (p.Glu899=) c.2904A>G (p.Glu968=) n.1990A>G c.3048A>G (p.Glu1016=) c.3045A>G (p.Glu1015=) c.1992A>G (p.Glu664=) c.2838A>G (p.Glu946=) c.2358A>G (p.Glu786=) | |
| 12 | g.47978390T>G | CA384541574 | COL2A1 | c.2697A>C (p.Glu899Asp) c.2904A>C (p.Glu968Asp) n.1990A>C c.3048A>C (p.Glu1016Asp) c.3045A>C (p.Glu1015Asp) c.1992A>C (p.Glu664Asp) c.2838A>C (p.Glu946Asp) c.2358A>C (p.Glu786Asp) | |
| 12 | g.47978391T>A | CA384541577 | COL2A1 | c.2696A>T (p.Glu899Val) c.2903A>T (p.Glu968Val) n.1989A>T c.3047A>T (p.Glu1016Val) c.3044A>T (p.Glu1015Val) c.1991A>T (p.Glu664Val) c.2837A>T (p.Glu946Val) c.2357A>T (p.Glu786Val) | |
| 12 | g.47978391T>C | CA384541581 | COL2A1 | c.2696A>G (p.Glu899Gly) c.2903A>G (p.Glu968Gly) n.1989A>G c.3047A>G (p.Glu1016Gly) c.3044A>G (p.Glu1015Gly) c.1991A>G (p.Glu664Gly) c.2837A>G (p.Glu946Gly) c.2357A>G (p.Glu786Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47978391T>G | CA384541583 | COL2A1 | c.2696A>C (p.Glu899Ala) c.2903A>C (p.Glu968Ala) n.1989A>C c.3047A>C (p.Glu1016Ala) c.3044A>C (p.Glu1015Ala) c.1991A>C (p.Glu664Ala) c.2837A>C (p.Glu946Ala) c.2357A>C (p.Glu786Ala) | |
| 12 | g.47978391T= | CA2034476850 | COL2A1 | c.2696A= (p.Glu899=) c.2903A= (p.Glu968=) n.1989A= c.3047A= (p.Glu1016=) c.3044A= (p.Glu1015=) c.1991A= (p.Glu664=) c.2837A= (p.Glu946=) c.2357A= (p.Glu786=) | |
| 12 | g.47978392C>A | CA384541587 | COL2A1 | c.2695G>T (p.Glu899Ter) c.2902G>T (p.Glu968Ter) n.1988G>T c.3046G>T (p.Glu1016Ter) c.3043G>T (p.Glu1015Ter) c.1990G>T (p.Glu664Ter) c.2836G>T (p.Glu946Ter) c.2356G>T (p.Glu786Ter) | ClinVar dbSNP |
| 12 | g.47978392C= | CA2034476851 | COL2A1 | c.2695G= (p.Glu899=) c.2902G= (p.Glu968=) n.1988G= c.3046G= (p.Glu1016=) c.3043G= (p.Glu1015=) c.1990G= (p.Glu664=) c.2836G= (p.Glu946=) c.2356G= (p.Glu786=) | |
| 12 | g.47978392C>G | CA384541590 | COL2A1 | c.2695G>C (p.Glu899Gln) c.2902G>C (p.Glu968Gln) n.1988G>C c.3046G>C (p.Glu1016Gln) c.3043G>C (p.Glu1015Gln) c.1990G>C (p.Glu664Gln) c.2836G>C (p.Glu946Gln) c.2356G>C (p.Glu786Gln) | |
| 12 | g.47978392C>T | CA6534949 | COL2A1 | c.2695G>A (p.Glu899Lys) c.2902G>A (p.Glu968Lys) n.1988G>A c.3046G>A (p.Glu1016Lys) c.3043G>A (p.Glu1015Lys) c.1990G>A (p.Glu664Lys) c.2836G>A (p.Glu946Lys) c.2356G>A (p.Glu786Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |