Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33169456G>ACA3750387COL11A2c.3725C>T (p.Ser1242Leu)
c.3404C>T (p.Ser1135Leu)
c.3467C>T (p.Ser1156Leu)
n.273-3640C>T
c.2879C>T (p.Ser960Leu)
c.3011C>T (p.Ser1004Leu)
c.2831C>T (p.Ser944Leu)
c.2768C>T (p.Ser923Leu)
c.2612C>T (p.Ser871Leu)
c.2543C>T (p.Ser848Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33169456G>CCA363627895COL11A2c.3725C>G (p.Ser1242Trp)
c.3404C>G (p.Ser1135Trp)
c.3467C>G (p.Ser1156Trp)
n.273-3640C>G
c.2879C>G (p.Ser960Trp)
c.3011C>G (p.Ser1004Trp)
c.2831C>G (p.Ser944Trp)
c.2768C>G (p.Ser923Trp)
c.2612C>G (p.Ser871Trp)
c.2543C>G (p.Ser848Trp)
6g.33169456G=CA1619896019COL11A2c.3725C= (p.Ser1242=)
c.3404C= (p.Ser1135=)
c.3467C= (p.Ser1156=)
n.273-3640C=
c.2879C= (p.Ser960=)
c.3011C= (p.Ser1004=)
c.2831C= (p.Ser944=)
c.2768C= (p.Ser923=)
c.2612C= (p.Ser871=)
c.2543C= (p.Ser848=)
6g.33169456G>TCA363627898COL11A2c.3725C>A (p.Ser1242Ter)
c.3404C>A (p.Ser1135Ter)
c.3467C>A (p.Ser1156Ter)
n.273-3640C>A
c.2879C>A (p.Ser960Ter)
c.3011C>A (p.Ser1004Ter)
c.2831C>A (p.Ser944Ter)
c.2768C>A (p.Ser923Ter)
c.2612C>A (p.Ser871Ter)
c.2543C>A (p.Ser848Ter)
6g.33169457A>CCA363627902COL11A2c.3724T>G (p.Ser1242Ala)
c.3403T>G (p.Ser1135Ala)
c.3466T>G (p.Ser1156Ala)
n.273-3641T>G
c.2878T>G (p.Ser960Ala)
c.3010T>G (p.Ser1004Ala)
c.2830T>G (p.Ser944Ala)
c.2767T>G (p.Ser923Ala)
c.2611T>G (p.Ser871Ala)
c.2542T>G (p.Ser848Ala)
6g.33169457A>GCA363627905COL11A2c.3724T>C (p.Ser1242Pro)
c.3403T>C (p.Ser1135Pro)
c.3466T>C (p.Ser1156Pro)
n.273-3641T>C
c.2878T>C (p.Ser960Pro)
c.3010T>C (p.Ser1004Pro)
c.2830T>C (p.Ser944Pro)
c.2767T>C (p.Ser923Pro)
c.2611T>C (p.Ser871Pro)
c.2542T>C (p.Ser848Pro)
6g.33169457A>TCA363627908COL11A2c.3724T>A (p.Ser1242Thr)
c.3403T>A (p.Ser1135Thr)
c.3466T>A (p.Ser1156Thr)
n.273-3641T>A
c.2878T>A (p.Ser960Thr)
c.3010T>A (p.Ser1004Thr)
c.2830T>A (p.Ser944Thr)
c.2767T>A (p.Ser923Thr)
c.2611T>A (p.Ser871Thr)
c.2542T>A (p.Ser848Thr)
6g.33169458C>ACA363627912COL11A2c.3723G>T (p.Glu1241Asp)
c.3402G>T (p.Glu1134Asp)
c.3465G>T (p.Glu1155Asp)
n.273-3642G>T
c.2877G>T (p.Glu959Asp)
c.3009G>T (p.Glu1003Asp)
c.2829G>T (p.Glu943Asp)
c.2766G>T (p.Glu922Asp)
c.2610G>T (p.Glu870Asp)
c.2541G>T (p.Glu847Asp)
6g.33169458C>GCA363627913COL11A2c.3723G>C (p.Glu1241Asp)
c.3402G>C (p.Glu1134Asp)
c.3465G>C (p.Glu1155Asp)
n.273-3642G>C
c.2877G>C (p.Glu959Asp)
c.3009G>C (p.Glu1003Asp)
c.2829G>C (p.Glu943Asp)
c.2766G>C (p.Glu922Asp)
c.2610G>C (p.Glu870Asp)
c.2541G>C (p.Glu847Asp)
6g.33169458C>TCA449872146COL11A2c.3723G>A (p.Glu1241=)
c.3402G>A (p.Glu1134=)
c.3465G>A (p.Glu1155=)
n.273-3642G>A
c.2877G>A (p.Glu959=)
c.3009G>A (p.Glu1003=)
c.2829G>A (p.Glu943=)
c.2766G>A (p.Glu922=)
c.2610G>A (p.Glu870=)
c.2541G>A (p.Glu847=)
 gnomAD v4
6g.33169459T>ACA363627918COL11A2c.3722A>T (p.Glu1241Val)
c.3401A>T (p.Glu1134Val)
c.3464A>T (p.Glu1155Val)
n.273-3643A>T
c.2876A>T (p.Glu959Val)
c.3008A>T (p.Glu1003Val)
c.2828A>T (p.Glu943Val)
c.2765A>T (p.Glu922Val)
c.2609A>T (p.Glu870Val)
c.2540A>T (p.Glu847Val)
6g.33169459T>CCA363627925COL11A2c.3722A>G (p.Glu1241Gly)
c.3401A>G (p.Glu1134Gly)
c.3464A>G (p.Glu1155Gly)
n.273-3643A>G
c.2876A>G (p.Glu959Gly)
c.3008A>G (p.Glu1003Gly)
c.2828A>G (p.Glu943Gly)
c.2765A>G (p.Glu922Gly)
c.2609A>G (p.Glu870Gly)
c.2540A>G (p.Glu847Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.33169459T>GCA363627928COL11A2c.3722A>C (p.Glu1241Ala)
c.3401A>C (p.Glu1134Ala)
c.3464A>C (p.Glu1155Ala)
n.273-3643A>C
c.2876A>C (p.Glu959Ala)
c.3008A>C (p.Glu1003Ala)
c.2828A>C (p.Glu943Ala)
c.2765A>C (p.Glu922Ala)
c.2609A>C (p.Glu870Ala)
c.2540A>C (p.Glu847Ala)
6g.33169459T=CA1619896024COL11A2c.3722A= (p.Glu1241=)
c.3401A= (p.Glu1134=)
c.3464A= (p.Glu1155=)
n.273-3643A=
c.2876A= (p.Glu959=)
c.3008A= (p.Glu1003=)
c.2828A= (p.Glu943=)
c.2765A= (p.Glu922=)
c.2609A= (p.Glu870=)
c.2540A= (p.Glu847=)
6g.33169460C>ACA363627934COL11A2c.3721G>T (p.Glu1241Ter)
c.3400G>T (p.Glu1134Ter)
c.3463G>T (p.Glu1155Ter)
n.273-3644G>T
c.2875G>T (p.Glu959Ter)
c.3007G>T (p.Glu1003Ter)
c.2827G>T (p.Glu943Ter)
c.2764G>T (p.Glu922Ter)
c.2608G>T (p.Glu870Ter)
c.2539G>T (p.Glu847Ter)
6g.33169460C>GCA363627937COL11A2c.3721G>C (p.Glu1241Gln)
c.3400G>C (p.Glu1134Gln)
c.3463G>C (p.Glu1155Gln)
n.273-3644G>C
c.2875G>C (p.Glu959Gln)
c.3007G>C (p.Glu1003Gln)
c.2827G>C (p.Glu943Gln)
c.2764G>C (p.Glu922Gln)
c.2608G>C (p.Glu870Gln)
c.2539G>C (p.Glu847Gln)
6g.33169460C>TCA363627931COL11A2c.3721G>A (p.Glu1241Lys)
c.3400G>A (p.Glu1134Lys)
c.3463G>A (p.Glu1155Lys)
n.273-3644G>A
c.2875G>A (p.Glu959Lys)
c.3007G>A (p.Glu1003Lys)
c.2827G>A (p.Glu943Lys)
c.2764G>A (p.Glu922Lys)
c.2608G>A (p.Glu870Lys)
c.2539G>A (p.Glu847Lys)
6g.33169461T>ACA449872151COL11A2c.3720A>T (p.Gly1240=)
c.3399A>T (p.Gly1133=)
c.3462A>T (p.Gly1154=)
n.273-3645A>T
c.2874A>T (p.Gly958=)
c.3006A>T (p.Gly1002=)
c.2826A>T (p.Gly942=)
c.2763A>T (p.Gly921=)
c.2607A>T (p.Gly869=)
c.2538A>T (p.Gly846=)
6g.33169461T>CCA449872154COL11A2c.3720A>G (p.Gly1240=)
c.3399A>G (p.Gly1133=)
c.3462A>G (p.Gly1154=)
n.273-3645A>G
c.2874A>G (p.Gly958=)
c.3006A>G (p.Gly1002=)
c.2826A>G (p.Gly942=)
c.2763A>G (p.Gly921=)
c.2607A>G (p.Gly869=)
c.2538A>G (p.Gly846=)
6g.33169461T>GCA449872155COL11A2c.3720A>C (p.Gly1240=)
c.3399A>C (p.Gly1133=)
c.3462A>C (p.Gly1154=)
n.273-3645A>C
c.2874A>C (p.Gly958=)
c.3006A>C (p.Gly1002=)
c.2826A>C (p.Gly942=)
c.2763A>C (p.Gly921=)
c.2607A>C (p.Gly869=)
c.2538A>C (p.Gly846=)
6g.33169462C>ACA363627941COL11A2c.3719G>T (p.Gly1240Val)
c.3398G>T (p.Gly1133Val)
c.3461G>T (p.Gly1154Val)
n.273-3646G>T
c.2873G>T (p.Gly958Val)
c.3005G>T (p.Gly1002Val)
c.2825G>T (p.Gly942Val)
c.2762G>T (p.Gly921Val)
c.2606G>T (p.Gly869Val)
c.2537G>T (p.Gly846Val)
6g.33169462C>GCA363627943COL11A2c.3719G>C (p.Gly1240Ala)
c.3398G>C (p.Gly1133Ala)
c.3461G>C (p.Gly1154Ala)
n.273-3646G>C
c.2873G>C (p.Gly958Ala)
c.3005G>C (p.Gly1002Ala)
c.2825G>C (p.Gly942Ala)
c.2762G>C (p.Gly921Ala)
c.2606G>C (p.Gly869Ala)
c.2537G>C (p.Gly846Ala)
 ClinVar
6g.33169462C>TCA363627946COL11A2c.3719G>A (p.Gly1240Glu)
c.3398G>A (p.Gly1133Glu)
c.3461G>A (p.Gly1154Glu)
n.273-3646G>A
c.2873G>A (p.Gly958Glu)
c.3005G>A (p.Gly1002Glu)
c.2825G>A (p.Gly942Glu)
c.2762G>A (p.Gly921Glu)
c.2606G>A (p.Gly869Glu)
c.2537G>A (p.Gly846Glu)
6g.33169463C>ACA363627949COL11A2c.3718G>T (p.Gly1240Ter)
c.3397G>T (p.Gly1133Ter)
c.3460G>T (p.Gly1154Ter)
n.273-3647G>T
c.2872G>T (p.Gly958Ter)
c.3004G>T (p.Gly1002Ter)
c.2824G>T (p.Gly942Ter)
c.2761G>T (p.Gly921Ter)
c.2605G>T (p.Gly869Ter)
c.2536G>T (p.Gly846Ter)
6g.33169463C>GCA363627952COL11A2c.3718G>C (p.Gly1240Arg)
c.3397G>C (p.Gly1133Arg)
c.3460G>C (p.Gly1154Arg)
n.273-3647G>C
c.2872G>C (p.Gly958Arg)
c.3004G>C (p.Gly1002Arg)
c.2824G>C (p.Gly942Arg)
c.2761G>C (p.Gly921Arg)
c.2605G>C (p.Gly869Arg)
c.2536G>C (p.Gly846Arg)
6g.33169463C>TCA363627953COL11A2c.3718G>A (p.Gly1240Arg)
c.3397G>A (p.Gly1133Arg)
c.3460G>A (p.Gly1154Arg)
n.273-3647G>A
c.2872G>A (p.Gly958Arg)
c.3004G>A (p.Gly1002Arg)
c.2824G>A (p.Gly942Arg)
c.2761G>A (p.Gly921Arg)
c.2605G>A (p.Gly869Arg)
c.2536G>A (p.Gly846Arg)
6g.33169464T>ACA363627962COL11A2c.3717A>T (p.Lys1239Asn)
c.3396A>T (p.Lys1132Asn)
c.3459A>T (p.Lys1153Asn)
n.273-3648A>T
c.2871A>T (p.Lys957Asn)
c.3003A>T (p.Lys1001Asn)
c.2823A>T (p.Lys941Asn)
c.2760A>T (p.Lys920Asn)
c.2604A>T (p.Lys868Asn)
c.2535A>T (p.Lys845Asn)
6g.33169464T>CCA449872161COL11A2c.3717A>G (p.Lys1239=)
c.3396A>G (p.Lys1132=)
c.3459A>G (p.Lys1153=)
n.273-3648A>G
c.2871A>G (p.Lys957=)
c.3003A>G (p.Lys1001=)
c.2823A>G (p.Lys941=)
c.2760A>G (p.Lys920=)
c.2604A>G (p.Lys868=)
c.2535A>G (p.Lys845=)
 gnomAD v4
6g.33169464T>GCA363627959COL11A2c.3717A>C (p.Lys1239Asn)
c.3396A>C (p.Lys1132Asn)
c.3459A>C (p.Lys1153Asn)
n.273-3648A>C
c.2871A>C (p.Lys957Asn)
c.3003A>C (p.Lys1001Asn)
c.2823A>C (p.Lys941Asn)
c.2760A>C (p.Lys920Asn)
c.2604A>C (p.Lys868Asn)
c.2535A>C (p.Lys845Asn)
6g.33169465T>ACA363627965COL11A2c.3716A>T (p.Lys1239Ile)
c.3395A>T (p.Lys1132Ile)
c.3458A>T (p.Lys1153Ile)
n.273-3649A>T
c.2870A>T (p.Lys957Ile)
c.3002A>T (p.Lys1001Ile)
c.2822A>T (p.Lys941Ile)
c.2759A>T (p.Lys920Ile)
c.2603A>T (p.Lys868Ile)
c.2534A>T (p.Lys845Ile)
6g.33169465T>CCA363627968COL11A2c.3716A>G (p.Lys1239Arg)
c.3395A>G (p.Lys1132Arg)
c.3458A>G (p.Lys1153Arg)
n.273-3649A>G
c.2870A>G (p.Lys957Arg)
c.3002A>G (p.Lys1001Arg)
c.2822A>G (p.Lys941Arg)
c.2759A>G (p.Lys920Arg)
c.2603A>G (p.Lys868Arg)
c.2534A>G (p.Lys845Arg)
6g.33169465T>GCA363627970COL11A2c.3716A>C (p.Lys1239Thr)
c.3395A>C (p.Lys1132Thr)
c.3458A>C (p.Lys1153Thr)
n.273-3649A>C
c.2870A>C (p.Lys957Thr)
c.3002A>C (p.Lys1001Thr)
c.2822A>C (p.Lys941Thr)
c.2759A>C (p.Lys920Thr)
c.2603A>C (p.Lys868Thr)
c.2534A>C (p.Lys845Thr)
6g.33169466T>ACA363627978COL11A2c.3715A>T (p.Lys1239Ter)
c.3394A>T (p.Lys1132Ter)
c.3457A>T (p.Lys1153Ter)
n.273-3650A>T
c.2869A>T (p.Lys957Ter)
c.3001A>T (p.Lys1001Ter)
c.2821A>T (p.Lys941Ter)
c.2758A>T (p.Lys920Ter)
c.2602A>T (p.Lys868Ter)
c.2533A>T (p.Lys845Ter)
6g.33169466T>CCA363627980COL11A2c.3715A>G (p.Lys1239Glu)
c.3394A>G (p.Lys1132Glu)
c.3457A>G (p.Lys1153Glu)
n.273-3650A>G
c.2869A>G (p.Lys957Glu)
c.3001A>G (p.Lys1001Glu)
c.2821A>G (p.Lys941Glu)
c.2758A>G (p.Lys920Glu)
c.2602A>G (p.Lys868Glu)
c.2533A>G (p.Lys845Glu)
6g.33169466T>GCA363627989COL11A2c.3715A>C (p.Lys1239Gln)
c.3394A>C (p.Lys1132Gln)
c.3457A>C (p.Lys1153Gln)
n.273-3650A>C
c.2869A>C (p.Lys957Gln)
c.3001A>C (p.Lys1001Gln)
c.2821A>C (p.Lys941Gln)
c.2758A>C (p.Lys920Gln)
c.2602A>C (p.Lys868Gln)
c.2533A>C (p.Lys845Gln)
6g.33169467C>ACA363627993COL11A2c.3714G>T (p.Glu1238Asp)
c.3393G>T (p.Glu1131Asp)
c.3456G>T (p.Glu1152Asp)
n.273-3651G>T
c.2868G>T (p.Glu956Asp)
c.3000G>T (p.Glu1000Asp)
c.2820G>T (p.Glu940Asp)
c.2757G>T (p.Glu919Asp)
c.2601G>T (p.Glu867Asp)
c.2532G>T (p.Glu844Asp)
6g.33169467C=CA1619896030COL11A2c.3714G= (p.Glu1238=)
c.3393G= (p.Glu1131=)
c.3456G= (p.Glu1152=)
n.273-3651G=
c.2868G= (p.Glu956=)
c.3000G= (p.Glu1000=)
c.2820G= (p.Glu940=)
c.2757G= (p.Glu919=)
c.2601G= (p.Glu867=)
c.2532G= (p.Glu844=)
6g.33169467C>GCA363627999COL11A2c.3714G>C (p.Glu1238Asp)
c.3393G>C (p.Glu1131Asp)
c.3456G>C (p.Glu1152Asp)
n.273-3651G>C
c.2868G>C (p.Glu956Asp)
c.3000G>C (p.Glu1000Asp)
c.2820G>C (p.Glu940Asp)
c.2757G>C (p.Glu919Asp)
c.2601G>C (p.Glu867Asp)
c.2532G>C (p.Glu844Asp)
6g.33169467C>TCA3750388COL11A2c.3714G>A (p.Glu1238=)
c.3393G>A (p.Glu1131=)
c.3456G>A (p.Glu1152=)
n.273-3651G>A
c.2868G>A (p.Glu956=)
c.3000G>A (p.Glu1000=)
c.2820G>A (p.Glu940=)
c.2757G>A (p.Glu919=)
c.2601G>A (p.Glu867=)
c.2532G>A (p.Glu844=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.33169468T>ACA363628003COL11A2c.3713A>T (p.Glu1238Val)
c.3392A>T (p.Glu1131Val)
c.3455A>T (p.Glu1152Val)
n.273-3652A>T
c.2867A>T (p.Glu956Val)
c.2999A>T (p.Glu1000Val)
c.2819A>T (p.Glu940Val)
c.2756A>T (p.Glu919Val)
c.2600A>T (p.Glu867Val)
c.2531A>T (p.Glu844Val)
6g.33169468T>CCA363628005COL11A2c.3713A>G (p.Glu1238Gly)
c.3392A>G (p.Glu1131Gly)
c.3455A>G (p.Glu1152Gly)
n.273-3652A>G
c.2867A>G (p.Glu956Gly)
c.2999A>G (p.Glu1000Gly)
c.2819A>G (p.Glu940Gly)
c.2756A>G (p.Glu919Gly)
c.2600A>G (p.Glu867Gly)
c.2531A>G (p.Glu844Gly)
6g.33169468T>GCA363628009COL11A2c.3713A>C (p.Glu1238Ala)
c.3392A>C (p.Glu1131Ala)
c.3455A>C (p.Glu1152Ala)
n.273-3652A>C
c.2867A>C (p.Glu956Ala)
c.2999A>C (p.Glu1000Ala)
c.2819A>C (p.Glu940Ala)
c.2756A>C (p.Glu919Ala)
c.2600A>C (p.Glu867Ala)
c.2531A>C (p.Glu844Ala)
6g.33169469C>ACA363628011COL11A2c.3712G>T (p.Glu1238Ter)
c.3391G>T (p.Glu1131Ter)
c.3454G>T (p.Glu1152Ter)
n.273-3653G>T
c.2866G>T (p.Glu956Ter)
c.2998G>T (p.Glu1000Ter)
c.2818G>T (p.Glu940Ter)
c.2755G>T (p.Glu919Ter)
c.2599G>T (p.Glu867Ter)
c.2530G>T (p.Glu844Ter)
6g.33169469C>GCA363628013COL11A2c.3712G>C (p.Glu1238Gln)
c.3391G>C (p.Glu1131Gln)
c.3454G>C (p.Glu1152Gln)
n.273-3653G>C
c.2866G>C (p.Glu956Gln)
c.2998G>C (p.Glu1000Gln)
c.2818G>C (p.Glu940Gln)
c.2755G>C (p.Glu919Gln)
c.2599G>C (p.Glu867Gln)
c.2530G>C (p.Glu844Gln)
6g.33169469C>TCA363628016COL11A2c.3712G>A (p.Glu1238Lys)
c.3391G>A (p.Glu1131Lys)
c.3454G>A (p.Glu1152Lys)
n.273-3653G>A
c.2866G>A (p.Glu956Lys)
c.2998G>A (p.Glu1000Lys)
c.2818G>A (p.Glu940Lys)
c.2755G>A (p.Glu919Lys)
c.2599G>A (p.Glu867Lys)
c.2530G>A (p.Glu844Lys)
6g.33169470T>ACA449872179COL11A2c.3711A>T (p.Gly1237=)
c.3390A>T (p.Gly1130=)
c.3453A>T (p.Gly1151=)
n.273-3654A>T
c.2865A>T (p.Gly955=)
c.2997A>T (p.Gly999=)
c.2817A>T (p.Gly939=)
c.2754A>T (p.Gly918=)
c.2598A>T (p.Gly866=)
c.2529A>T (p.Gly843=)
6g.33169470T>CCA449872174COL11A2c.3711A>G (p.Gly1237=)
c.3390A>G (p.Gly1130=)
c.3453A>G (p.Gly1151=)
n.273-3654A>G
c.2865A>G (p.Gly955=)
c.2997A>G (p.Gly999=)
c.2817A>G (p.Gly939=)
c.2754A>G (p.Gly918=)
c.2598A>G (p.Gly866=)
c.2529A>G (p.Gly843=)
6g.33169470T>GCA449872175COL11A2c.3711A>C (p.Gly1237=)
c.3390A>C (p.Gly1130=)
c.3453A>C (p.Gly1151=)
n.273-3654A>C
c.2865A>C (p.Gly955=)
c.2997A>C (p.Gly999=)
c.2817A>C (p.Gly939=)
c.2754A>C (p.Gly918=)
c.2598A>C (p.Gly866=)
c.2529A>C (p.Gly843=)
6g.33169471C>ACA363628019COL11A2c.3710G>T (p.Gly1237Val)
c.3389G>T (p.Gly1130Val)
c.3452G>T (p.Gly1151Val)
n.273-3655G>T
c.2864G>T (p.Gly955Val)
c.2996G>T (p.Gly999Val)
c.2816G>T (p.Gly939Val)
c.2753G>T (p.Gly918Val)
c.2597G>T (p.Gly866Val)
c.2528G>T (p.Gly843Val)
6g.33169471C>GCA363628021COL11A2c.3710G>C (p.Gly1237Ala)
c.3389G>C (p.Gly1130Ala)
c.3452G>C (p.Gly1151Ala)
n.273-3655G>C
c.2864G>C (p.Gly955Ala)
c.2996G>C (p.Gly999Ala)
c.2816G>C (p.Gly939Ala)
c.2753G>C (p.Gly918Ala)
c.2597G>C (p.Gly866Ala)
c.2528G>C (p.Gly843Ala)

Number of alleles fetched