Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.44107909_44107914delinsC | CA2695213766 | EXT2 | c.197_202delinsC (p.Val66AlafsTer3) n.356_361delinsC c.-544+12057_-544+12062delinsC (n.-544+12057_-544+12062delinsC) n.371_376delinsC n.614_619delinsC n.2758_2763delinsC c.296_301delinsC (p.Val99AlafsTer3) c.335_340delinsC (p.Val112AlafsTer3) c.236_241delinsC (p.Val79AlafsTer3) | |
11 | g.44107912dup | CA2695213767 | EXT2 | c.200dup (p.Val68GlyfsTer3) n.359dup c.-544+12060dup (n.-544+12060dup) n.374dup n.617dup n.2761dup c.299dup (p.Val101GlyfsTer3) c.338dup (p.Val114GlyfsTer3) c.239dup (p.Val81GlyfsTer3) | |
11 | g.44107912C>A | CA380179838 | EXT2 | c.200C>A (p.Pro67Gln) n.359C>A c.-544+12060C>A (n.-544+12060C>A) n.374C>A n.617C>A n.2761C>A c.299C>A (p.Pro100Gln) c.338C>A (p.Pro113Gln) c.239C>A (p.Pro80Gln) | |
11 | g.44107912C= | CA1967875481 | EXT2 | c.200C= (p.Pro67=) n.359C= c.-544+12060C= (n.-544+12060C=) n.374C= n.617C= n.2761C= c.299C= (p.Pro100=) c.338C= (p.Pro113=) c.239C= (p.Pro80=) | |
11 | g.44107912C>G | CA380179839 | EXT2 | c.200C>G (p.Pro67Arg) n.359C>G c.-544+12060C>G (n.-544+12060C>G) n.374C>G n.617C>G n.2761C>G c.299C>G (p.Pro100Arg) c.338C>G (p.Pro113Arg) c.239C>G (p.Pro80Arg) | dbSNP |
11 | g.44107912C>T | CA5954838 | EXT2 | c.200C>T (p.Pro67Leu) n.359C>T c.-544+12060C>T (n.-544+12060C>T) n.374C>T n.617C>T n.2761C>T c.299C>T (p.Pro100Leu) c.338C>T (p.Pro113Leu) c.239C>T (p.Pro80Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107913G>A | CA5954839 | EXT2 | c.201G>A (p.Pro67=) n.360G>A c.-544+12061G>A (n.-544+12061G>A) n.375G>A n.618G>A n.2762G>A c.300G>A (p.Pro100=) c.339G>A (p.Pro113=) c.240G>A (p.Pro80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107913G>C | CA474035027 | EXT2 | c.201G>C (p.Pro67=) n.360G>C c.-544+12061G>C (n.-544+12061G>C) n.375G>C n.618G>C n.2762G>C c.300G>C (p.Pro100=) c.339G>C (p.Pro113=) c.240G>C (p.Pro80=) | |
11 | g.44107913G= | CA1967875489 | EXT2 | c.201G= (p.Pro67=) n.360G= c.-544+12061G= (n.-544+12061G=) n.375G= n.618G= n.2762G= c.300G= (p.Pro100=) c.339G= (p.Pro113=) c.240G= (p.Pro80=) | |
11 | g.44107913G>T | CA474035028 | EXT2 | c.201G>T (p.Pro67=) n.360G>T c.-544+12061G>T (n.-544+12061G>T) n.375G>T n.618G>T n.2762G>T c.300G>T (p.Pro100=) c.339G>T (p.Pro113=) c.240G>T (p.Pro80=) | |
11 | g.44107914del | CA2695213768 | EXT2 | c.202del (p.Val68LeufsTer?) n.361del c.-544+12062del (n.-544+12062del) n.376del n.619del n.2763del c.301del (p.Val101LeufsTer?) c.340del (p.Val114LeufsTer?) c.241del (p.Val81LeufsTer?) | |
11 | g.44107913_44107914insC | CA2695213769 | EXT2 | c.201_202insC (p.Val68ArgfsTer3) n.360_361insC c.-544+12061_-544+12062insC (n.-544+12061_-544+12062insC) n.375_376insC n.618_619insC n.2762_2763insC c.300_301insC (p.Val101ArgfsTer3) c.339_340insC (p.Val114ArgfsTer3) c.240_241insC (p.Val81ArgfsTer3) | |
11 | g.44107914G>A | CA380179841 | EXT2 | c.202G>A (p.Val68Ile) n.361G>A c.-544+12062G>A (n.-544+12062G>A) n.376G>A n.619G>A n.2763G>A c.301G>A (p.Val101Ile) c.340G>A (p.Val114Ile) c.241G>A (p.Val81Ile) | dbSNP |
11 | g.44107914G>C | CA380179842 | EXT2 | c.202G>C (p.Val68Leu) n.361G>C c.-544+12062G>C (n.-544+12062G>C) n.376G>C n.619G>C n.2763G>C c.301G>C (p.Val101Leu) c.340G>C (p.Val114Leu) c.241G>C (p.Val81Leu) | dbSNP gnomAD v4 |
11 | g.44107914G>T | CA380179840 | EXT2 | c.202G>T (p.Val68Phe) n.361G>T c.-544+12062G>T (n.-544+12062G>T) n.376G>T n.619G>T n.2763G>T c.301G>T (p.Val101Phe) c.340G>T (p.Val114Phe) c.241G>T (p.Val81Phe) | gnomAD v4 |
11 | g.44107914_44107970delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA | CA1967875498 | EXT2 | c.202_258delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val68=) n.361_417delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA c.-544+12062_-544+12118delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (n.-544+12062_-544+12118delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA) n.376_432delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA n.619_675delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA n.2763_2819delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA c.301_357delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val101=) c.340_396delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val114=) c.241_297delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val81=) | |
11 | g.44107915T>A | CA380179845 | EXT2 | c.203T>A (p.Val68Asp) n.362T>A c.-544+12063T>A (n.-544+12063T>A) n.377T>A n.620T>A n.2764T>A c.302T>A (p.Val101Asp) c.341T>A (p.Val114Asp) c.242T>A (p.Val81Asp) | |
11 | g.44107915T>C | CA380179843 | EXT2 | c.203T>C (p.Val68Ala) n.362T>C c.-544+12063T>C (n.-544+12063T>C) n.377T>C n.620T>C n.2764T>C c.302T>C (p.Val101Ala) c.341T>C (p.Val114Ala) c.242T>C (p.Val81Ala) | |
11 | g.44107915T>G | CA380179844 | EXT2 | c.203T>G (p.Val68Gly) n.362T>G c.-544+12063T>G (n.-544+12063T>G) n.377T>G n.620T>G n.2764T>G c.302T>G (p.Val101Gly) c.341T>G (p.Val114Gly) c.242T>G (p.Val81Gly) | gnomAD v4 |
11 | g.44107915_44107970del | CA1139661914 | EXT2 | c.203_258del (p.Val68AspfsTer6) n.362_417del c.-544+12063_-544+12118del (n.-544+12063_-544+12118del) n.377_432del n.620_675del n.2764_2819del c.302_357del (p.Val101AspfsTer6) c.341_396del (p.Val114AspfsTer6) c.242_297del (p.Val81AspfsTer6) | ClinVar dbSNP |
11 | g.44107916T>A | CA474035031 | EXT2 | c.204T>A (p.Val68=) n.363T>A c.-544+12064T>A (n.-544+12064T>A) n.378T>A n.621T>A n.2765T>A c.303T>A (p.Val101=) c.342T>A (p.Val114=) c.243T>A (p.Val81=) | |
11 | g.44107916T>C | CA474035030 | EXT2 | c.204T>C (p.Val68=) n.363T>C c.-544+12064T>C (n.-544+12064T>C) n.378T>C n.621T>C n.2765T>C c.303T>C (p.Val101=) c.342T>C (p.Val114=) c.243T>C (p.Val81=) | |
11 | g.44107916T>G | CA474035029 | EXT2 | c.204T>G (p.Val68=) n.363T>G c.-544+12064T>G (n.-544+12064T>G) n.378T>G n.621T>G n.2765T>G c.303T>G (p.Val101=) c.342T>G (p.Val114=) c.243T>G (p.Val81=) | |
11 | g.44107917G>A | CA10634840 | EXT2 | c.205G>A (p.Val69Ile) n.364G>A c.-544+12065G>A (n.-544+12065G>A) n.379G>A n.622G>A n.2766G>A c.304G>A (p.Val102Ile) c.343G>A (p.Val115Ile) c.244G>A (p.Val82Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107917G>C | CA380179846 | EXT2 | c.205G>C (p.Val69Leu) n.364G>C c.-544+12065G>C (n.-544+12065G>C) n.379G>C n.622G>C n.2766G>C c.304G>C (p.Val102Leu) c.343G>C (p.Val115Leu) c.244G>C (p.Val82Leu) | |
11 | g.44107917G= | CA1967875506 | EXT2 | c.205G= (p.Val69=) n.364G= c.-544+12065G= (n.-544+12065G=) n.379G= n.622G= n.2766G= c.304G= (p.Val102=) c.343G= (p.Val115=) c.244G= (p.Val82=) | |
11 | g.44107917G>T | CA380179847 | EXT2 | c.205G>T (p.Val69Phe) n.364G>T c.-544+12065G>T (n.-544+12065G>T) n.379G>T n.622G>T n.2766G>T c.304G>T (p.Val102Phe) c.343G>T (p.Val115Phe) c.244G>T (p.Val82Phe) | |
11 | g.44107918T>A | CA380179848 | EXT2 | c.206T>A (p.Val69Asp) n.365T>A c.-544+12066T>A (n.-544+12066T>A) n.380T>A n.623T>A n.2767T>A c.305T>A (p.Val102Asp) c.344T>A (p.Val115Asp) c.245T>A (p.Val82Asp) | |
11 | g.44107918T>C | CA380179849 | EXT2 | c.206T>C (p.Val69Ala) n.365T>C c.-544+12066T>C (n.-544+12066T>C) n.380T>C n.623T>C n.2767T>C c.305T>C (p.Val102Ala) c.344T>C (p.Val115Ala) c.245T>C (p.Val82Ala) | |
11 | g.44107918T>G | CA380179850 | EXT2 | c.206T>G (p.Val69Gly) n.365T>G c.-544+12066T>G (n.-544+12066T>G) n.380T>G n.623T>G n.2767T>G c.305T>G (p.Val102Gly) c.344T>G (p.Val115Gly) c.245T>G (p.Val82Gly) | dbSNP |
11 | g.44107919T>A | CA474035032 | EXT2 | c.207T>A (p.Val69=) n.366T>A c.-544+12067T>A (n.-544+12067T>A) n.381T>A n.624T>A n.2768T>A c.306T>A (p.Val102=) c.345T>A (p.Val115=) c.246T>A (p.Val82=) | |
11 | g.44107919T>C | CA474035034 | EXT2 | c.207T>C (p.Val69=) n.366T>C c.-544+12067T>C (n.-544+12067T>C) n.381T>C n.624T>C n.2768T>C c.306T>C (p.Val102=) c.345T>C (p.Val115=) c.246T>C (p.Val82=) | dbSNP gnomAD v4 |
11 | g.44107919T>G | CA474035033 | EXT2 | c.207T>G (p.Val69=) n.366T>G c.-544+12067T>G (n.-544+12067T>G) n.381T>G n.624T>G n.2768T>G c.306T>G (p.Val102=) c.345T>G (p.Val115=) c.246T>G (p.Val82=) | |
11 | g.44107920A= | CA1967875510 | EXT2 | c.208A= (p.Arg70=) n.367A= c.-544+12068A= (n.-544+12068A=) n.382A= n.625A= n.2769A= c.307A= (p.Arg103=) c.346A= (p.Arg116=) c.247A= (p.Arg83=) | |
11 | g.44107920A>C | CA474035035 | EXT2 | c.208A>C (p.Arg70=) n.367A>C c.-544+12068A>C (n.-544+12068A>C) n.382A>C n.625A>C n.2769A>C c.307A>C (p.Arg103=) c.346A>C (p.Arg116=) c.247A>C (p.Arg83=) | |
11 | g.44107920A>G | CA380179851 | EXT2 | c.208A>G (p.Arg70Gly) n.367A>G c.-544+12068A>G (n.-544+12068A>G) n.382A>G n.625A>G n.2769A>G c.307A>G (p.Arg103Gly) c.346A>G (p.Arg116Gly) c.247A>G (p.Arg83Gly) | |
11 | g.44107920A>T | CA5954840 | EXT2 | c.208A>T (p.Arg70Trp) n.367A>T c.-544+12068A>T (n.-544+12068A>T) n.382A>T n.625A>T n.2769A>T c.307A>T (p.Arg103Trp) c.346A>T (p.Arg116Trp) c.247A>T (p.Arg83Trp) | dbSNP ExAC gnomAD v2 |
11 | g.44107921G>A | CA380179852 | EXT2 | c.209G>A (p.Arg70Lys) n.368G>A c.-544+12069G>A (n.-544+12069G>A) n.383G>A n.626G>A n.2770G>A c.308G>A (p.Arg103Lys) c.347G>A (p.Arg116Lys) c.248G>A (p.Arg83Lys) | |
11 | g.44107921G>C | CA380179853 | EXT2 | c.209G>C (p.Arg70Thr) n.368G>C c.-544+12069G>C (n.-544+12069G>C) n.383G>C n.626G>C n.2770G>C c.308G>C (p.Arg103Thr) c.347G>C (p.Arg116Thr) c.248G>C (p.Arg83Thr) | |
11 | g.44107921G>T | CA380179854 | EXT2 | c.209G>T (p.Arg70Met) n.368G>T c.-544+12069G>T (n.-544+12069G>T) n.383G>T n.626G>T n.2770G>T c.308G>T (p.Arg103Met) c.347G>T (p.Arg116Met) c.248G>T (p.Arg83Met) | |
11 | g.44107922del | CA2695213770 | EXT2 | c.210del (p.Arg70SerfsTer?) n.369del c.-544+12070del (n.-544+12070del) n.384del n.627del n.2771del c.309del (p.Arg103SerfsTer?) c.348del (p.Arg116SerfsTer?) c.249del (p.Arg83SerfsTer?) | |
11 | g.44107922G>A | CA5954841 | EXT2 | c.210G>A (p.Arg70=) n.369G>A c.-544+12070G>A (n.-544+12070G>A) n.384G>A n.627G>A n.2771G>A c.309G>A (p.Arg103=) c.348G>A (p.Arg116=) c.249G>A (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107922G>C | CA380179855 | EXT2 | c.210G>C (p.Arg70Ser) n.369G>C c.-544+12070G>C (n.-544+12070G>C) n.384G>C n.627G>C n.2771G>C c.309G>C (p.Arg103Ser) c.348G>C (p.Arg116Ser) c.249G>C (p.Arg83Ser) | dbSNP |
11 | g.44107922G= | CA1967875512 | EXT2 | c.210G= (p.Arg70=) n.369G= c.-544+12070G= (n.-544+12070G=) n.384G= n.627G= n.2771G= c.309G= (p.Arg103=) c.348G= (p.Arg116=) c.249G= (p.Arg83=) | |
11 | g.44107922G>T | CA380179856 | EXT2 | c.210G>T (p.Arg70Ser) n.369G>T c.-544+12070G>T (n.-544+12070G>T) n.384G>T n.627G>T n.2771G>T c.309G>T (p.Arg103Ser) c.348G>T (p.Arg116Ser) c.249G>T (p.Arg83Ser) | |
11 | g.44107922_44107923delinsGC | CA1967875513 | EXT2 | c.210_211delinsGC (p.Arg70=) n.369_370delinsGC c.-544+12070_-544+12071delinsGC (n.-544+12070_-544+12071delinsGC) n.384_385delinsGC n.627_628delinsGC n.2771_2772delinsGC c.309_310delinsGC (p.Arg103=) c.348_349delinsGC (p.Arg116=) c.249_250delinsGC (p.Arg83=) | |
11 | g.44107923del | CA916081631 | EXT2 | c.211del (p.Leu71CysfsTer?) n.370del c.-544+12071del (n.-544+12071del) n.385del n.628del n.2772del c.310del (p.Leu104CysfsTer?) c.349del (p.Leu117CysfsTer?) c.250del (p.Leu84CysfsTer?) | ClinVar dbSNP |
11 | g.44107923C>A | CA380179857 | EXT2 | c.211C>A (p.Leu71Met) n.370C>A c.-544+12071C>A (n.-544+12071C>A) n.385C>A n.628C>A n.2772C>A c.310C>A (p.Leu104Met) c.349C>A (p.Leu117Met) c.250C>A (p.Leu84Met) | |
11 | g.44107923C= | CA1967875521 | EXT2 | c.211C= (p.Leu71=) n.370C= c.-544+12071C= (n.-544+12071C=) n.385C= n.628C= n.2772C= c.310C= (p.Leu104=) c.349C= (p.Leu117=) c.250C= (p.Leu84=) | |
11 | g.44107923C>G | CA380179858 | EXT2 | c.211C>G (p.Leu71Val) n.370C>G c.-544+12071C>G (n.-544+12071C>G) n.385C>G n.628C>G n.2772C>G c.310C>G (p.Leu104Val) c.349C>G (p.Leu117Val) c.250C>G (p.Leu84Val) | |
11 | g.44107923C>T | CA5954842 | EXT2 | c.211C>T (p.Leu71=) n.370C>T c.-544+12071C>T (n.-544+12071C>T) n.385C>T n.628C>T n.2772C>T c.310C>T (p.Leu104=) c.349C>T (p.Leu117=) c.250C>T (p.Leu84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107924T>A | CA380179859 | EXT2 | c.212T>A (p.Leu71Gln) n.371T>A c.-544+12072T>A (n.-544+12072T>A) n.386T>A n.629T>A n.2773T>A c.311T>A (p.Leu104Gln) c.350T>A (p.Leu117Gln) c.251T>A (p.Leu84Gln) | |
11 | g.44107924T>C | CA380179860 | EXT2 | c.212T>C (p.Leu71Pro) n.371T>C c.-544+12072T>C (n.-544+12072T>C) n.386T>C n.629T>C n.2773T>C c.311T>C (p.Leu104Pro) c.350T>C (p.Leu117Pro) c.251T>C (p.Leu84Pro) | |
11 | g.44107924T>G | CA380179861 | EXT2 | c.212T>G (p.Leu71Arg) n.371T>G c.-544+12072T>G (n.-544+12072T>G) n.386T>G n.629T>G n.2773T>G c.311T>G (p.Leu104Arg) c.350T>G (p.Leu117Arg) c.251T>G (p.Leu84Arg) | |
11 | g.44107925G>A | CA474035036 | EXT2 | c.213G>A (p.Leu71=) n.372G>A c.-544+12073G>A (n.-544+12073G>A) n.387G>A n.630G>A n.2774G>A c.312G>A (p.Leu104=) c.351G>A (p.Leu117=) c.252G>A (p.Leu84=) | dbSNP |
11 | g.44107925G>C | CA474035037 | EXT2 | c.213G>C (p.Leu71=) n.372G>C c.-544+12073G>C (n.-544+12073G>C) n.387G>C n.630G>C n.2774G>C c.312G>C (p.Leu104=) c.351G>C (p.Leu117=) c.252G>C (p.Leu84=) | |
11 | g.44107925G>T | CA474035038 | EXT2 | c.213G>T (p.Leu71=) n.372G>T c.-544+12073G>T (n.-544+12073G>T) n.387G>T n.630G>T n.2774G>T c.312G>T (p.Leu104=) c.351G>T (p.Leu117=) c.252G>T (p.Leu84=) | |
11 | g.44107926C>A | CA380179862 | EXT2 | c.214C>A (p.Pro72Thr) n.373C>A c.-544+12074C>A (n.-544+12074C>A) n.388C>A n.631C>A n.2775C>A c.313C>A (p.Pro105Thr) c.352C>A (p.Pro118Thr) c.253C>A (p.Pro85Thr) | |
11 | g.44107926C>G | CA380179863 | EXT2 | c.214C>G (p.Pro72Ala) n.373C>G c.-544+12074C>G (n.-544+12074C>G) n.388C>G n.631C>G n.2775C>G c.313C>G (p.Pro105Ala) c.352C>G (p.Pro118Ala) c.253C>G (p.Pro85Ala) | |
11 | g.44107926C>T | CA380179864 | EXT2 | c.214C>T (p.Pro72Ser) n.373C>T c.-544+12074C>T (n.-544+12074C>T) n.388C>T n.631C>T n.2775C>T c.313C>T (p.Pro105Ser) c.352C>T (p.Pro118Ser) c.253C>T (p.Pro85Ser) | dbSNP |
11 | g.44107927C>A | CA380179865 | EXT2 | c.215C>A (p.Pro72Gln) n.374C>A c.-544+12075C>A (n.-544+12075C>A) n.389C>A n.632C>A n.2776C>A c.314C>A (p.Pro105Gln) c.353C>A (p.Pro118Gln) c.254C>A (p.Pro85Gln) | |
11 | g.44107927C>G | CA380179866 | EXT2 | c.215C>G (p.Pro72Arg) n.374C>G c.-544+12075C>G (n.-544+12075C>G) n.389C>G n.632C>G n.2776C>G c.314C>G (p.Pro105Arg) c.353C>G (p.Pro118Arg) c.254C>G (p.Pro85Arg) | |
11 | g.44107927C>T | CA380179867 | EXT2 | c.215C>T (p.Pro72Leu) n.374C>T c.-544+12075C>T (n.-544+12075C>T) n.389C>T n.632C>T n.2776C>T c.314C>T (p.Pro105Leu) c.353C>T (p.Pro118Leu) c.254C>T (p.Pro85Leu) | |
11 | g.44107928A= | CA1967875529 | EXT2 | c.216A= (p.Pro72=) n.375A= c.-544+12076A= (n.-544+12076A=) n.390A= n.633A= n.2777A= c.315A= (p.Pro105=) c.354A= (p.Pro118=) c.255A= (p.Pro85=) | |
11 | g.44107928A>C | CA474035039 | EXT2 | c.216A>C (p.Pro72=) n.375A>C c.-544+12076A>C (n.-544+12076A>C) n.390A>C n.633A>C n.2777A>C c.315A>C (p.Pro105=) c.354A>C (p.Pro118=) c.255A>C (p.Pro85=) | |
11 | g.44107928A>G | CA474035040 | EXT2 | c.216A>G (p.Pro72=) n.375A>G c.-544+12076A>G (n.-544+12076A>G) n.390A>G n.633A>G n.2777A>G c.315A>G (p.Pro105=) c.354A>G (p.Pro118=) c.255A>G (p.Pro85=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107928A>T | CA474035041 | EXT2 | c.216A>T (p.Pro72=) n.375A>T c.-544+12076A>T (n.-544+12076A>T) n.390A>T n.633A>T n.2777A>T c.315A>T (p.Pro105=) c.354A>T (p.Pro118=) c.255A>T (p.Pro85=) | |
11 | g.44107929G>A | CA380179870 | EXT2 | c.217G>A (p.Ala73Thr) n.376G>A c.-544+12077G>A (n.-544+12077G>A) n.391G>A n.634G>A n.2778G>A c.316G>A (p.Ala106Thr) c.355G>A (p.Ala119Thr) c.256G>A (p.Ala86Thr) | dbSNP |
11 | g.44107929G>C | CA380179869 | EXT2 | c.217G>C (p.Ala73Pro) n.376G>C c.-544+12077G>C (n.-544+12077G>C) n.391G>C n.634G>C n.2778G>C c.316G>C (p.Ala106Pro) c.355G>C (p.Ala119Pro) c.256G>C (p.Ala86Pro) | dbSNP |
11 | g.44107929G>T | CA380179868 | EXT2 | c.217G>T (p.Ala73Ser) n.376G>T c.-544+12077G>T (n.-544+12077G>T) n.391G>T n.634G>T n.2778G>T c.316G>T (p.Ala106Ser) c.355G>T (p.Ala119Ser) c.256G>T (p.Ala86Ser) | |
11 | g.44107930C>A | CA380179871 | EXT2 | c.218C>A (p.Ala73Asp) n.377C>A c.-544+12078C>A (n.-544+12078C>A) n.392C>A n.635C>A n.2779C>A c.317C>A (p.Ala106Asp) c.356C>A (p.Ala119Asp) c.257C>A (p.Ala86Asp) | |
11 | g.44107930C>G | CA380179872 | EXT2 | c.218C>G (p.Ala73Gly) n.377C>G c.-544+12078C>G (n.-544+12078C>G) n.392C>G n.635C>G n.2779C>G c.317C>G (p.Ala106Gly) c.356C>G (p.Ala119Gly) c.257C>G (p.Ala86Gly) | |
11 | g.44107930C>T | CA380179873 | EXT2 | c.218C>T (p.Ala73Val) n.377C>T c.-544+12078C>T (n.-544+12078C>T) n.392C>T n.635C>T n.2779C>T c.317C>T (p.Ala106Val) c.356C>T (p.Ala119Val) c.257C>T (p.Ala86Val) | dbSNP |
11 | g.44107931C>A | CA474035042 | EXT2 | c.219C>A (p.Ala73=) n.378C>A c.-544+12079C>A (n.-544+12079C>A) n.393C>A n.636C>A n.2780C>A c.318C>A (p.Ala106=) c.357C>A (p.Ala119=) c.258C>A (p.Ala86=) | |
11 | g.44107931C= | CA1967875531 | EXT2 | c.219C= (p.Ala73=) n.378C= c.-544+12079C= (n.-544+12079C=) n.393C= n.636C= n.2780C= c.318C= (p.Ala106=) c.357C= (p.Ala119=) c.258C= (p.Ala86=) | |
11 | g.44107931C>G | CA474035043 | EXT2 | c.219C>G (p.Ala73=) n.378C>G c.-544+12079C>G (n.-544+12079C>G) n.393C>G n.636C>G n.2780C>G c.318C>G (p.Ala106=) c.357C>G (p.Ala119=) c.258C>G (p.Ala86=) | |
11 | g.44107931C>T | CA5954843 | EXT2 | c.219C>T (p.Ala73=) n.378C>T c.-544+12079C>T (n.-544+12079C>T) n.393C>T n.636C>T n.2780C>T c.318C>T (p.Ala106=) c.357C>T (p.Ala119=) c.258C>T (p.Ala86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107932G>A | CA380179874 | EXT2 | c.220G>A (p.Asp74Asn) n.379G>A c.-544+12080G>A (n.-544+12080G>A) n.394G>A n.637G>A n.2781G>A c.319G>A (p.Asp107Asn) c.358G>A (p.Asp120Asn) c.259G>A (p.Asp87Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107932G>C | CA5954844 | EXT2 | c.220G>C (p.Asp74His) n.379G>C c.-544+12080G>C (n.-544+12080G>C) n.394G>C n.637G>C n.2781G>C c.319G>C (p.Asp107His) c.358G>C (p.Asp120His) c.259G>C (p.Asp87His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107932G= | CA1967875535 | EXT2 | c.220G= (p.Asp74=) n.379G= c.-544+12080G= (n.-544+12080G=) n.394G= n.637G= n.2781G= c.319G= (p.Asp107=) c.358G= (p.Asp120=) c.259G= (p.Asp87=) | |
11 | g.44107932G>T | CA380179875 | EXT2 | c.220G>T (p.Asp74Tyr) n.379G>T c.-544+12080G>T (n.-544+12080G>T) n.394G>T n.637G>T n.2781G>T c.319G>T (p.Asp107Tyr) c.358G>T (p.Asp120Tyr) c.259G>T (p.Asp87Tyr) | |
11 | g.44107933A>C | CA380179878 | EXT2 | c.221A>C (p.Asp74Ala) n.380A>C c.-544+12081A>C (n.-544+12081A>C) n.395A>C n.638A>C n.2782A>C c.320A>C (p.Asp107Ala) c.359A>C (p.Asp120Ala) c.260A>C (p.Asp87Ala) | |
11 | g.44107933A>G | CA380179876 | EXT2 | c.221A>G (p.Asp74Gly) n.380A>G c.-544+12081A>G (n.-544+12081A>G) n.395A>G n.638A>G n.2782A>G c.320A>G (p.Asp107Gly) c.359A>G (p.Asp120Gly) c.260A>G (p.Asp87Gly) | |
11 | g.44107933A>T | CA380179877 | EXT2 | c.221A>T (p.Asp74Val) n.380A>T c.-544+12081A>T (n.-544+12081A>T) n.395A>T n.638A>T n.2782A>T c.320A>T (p.Asp107Val) c.359A>T (p.Asp120Val) c.260A>T (p.Asp87Val) | dbSNP |
11 | g.44107934C>A | CA380179879 | EXT2 | c.222C>A (p.Asp74Glu) n.381C>A c.-544+12082C>A (n.-544+12082C>A) n.396C>A n.639C>A n.2783C>A c.321C>A (p.Asp107Glu) c.360C>A (p.Asp120Glu) c.261C>A (p.Asp87Glu) | |
11 | g.44107934C>G | CA380179880 | EXT2 | c.222C>G (p.Asp74Glu) n.381C>G c.-544+12082C>G (n.-544+12082C>G) n.396C>G n.639C>G n.2783C>G c.321C>G (p.Asp107Glu) c.360C>G (p.Asp120Glu) c.261C>G (p.Asp87Glu) | gnomAD v4 |
11 | g.44107934C>T | CA474035044 | EXT2 | c.222C>T (p.Asp74=) n.381C>T c.-544+12082C>T (n.-544+12082C>T) n.396C>T n.639C>T n.2783C>T c.321C>T (p.Asp107=) c.360C>T (p.Asp120=) c.261C>T (p.Asp87=) | dbSNP |
11 | g.44107935A= | CA1967875538 | EXT2 | c.223A= (p.Ser75=) n.382A= c.-544+12083A= (n.-544+12083A=) n.397A= n.640A= n.2784A= c.322A= (p.Ser108=) c.361A= (p.Ser121=) c.262A= (p.Ser88=) | |
11 | g.44107935A>C | CA380179881 | EXT2 | c.223A>C (p.Ser75Arg) n.382A>C c.-544+12083A>C (n.-544+12083A>C) n.397A>C n.640A>C n.2784A>C c.322A>C (p.Ser108Arg) c.361A>C (p.Ser121Arg) c.262A>C (p.Ser88Arg) | |
11 | g.44107935A>G | CA380179882 | EXT2 | c.223A>G (p.Ser75Gly) n.382A>G c.-544+12083A>G (n.-544+12083A>G) n.397A>G n.640A>G n.2784A>G c.322A>G (p.Ser108Gly) c.361A>G (p.Ser121Gly) c.262A>G (p.Ser88Gly) | |
11 | g.44107935A>T | CA380179883 | EXT2 | c.223A>T (p.Ser75Cys) n.382A>T c.-544+12083A>T (n.-544+12083A>T) n.397A>T n.640A>T n.2784A>T c.322A>T (p.Ser108Cys) c.361A>T (p.Ser121Cys) c.262A>T (p.Ser88Cys) | dbSNP gnomAD v4 |
11 | g.44107936G>A | CA380179884 | EXT2 | c.224G>A (p.Ser75Asn) n.383G>A c.-544+12084G>A (n.-544+12084G>A) n.398G>A n.641G>A n.2785G>A c.323G>A (p.Ser108Asn) c.362G>A (p.Ser121Asn) c.263G>A (p.Ser88Asn) | dbSNP |
11 | g.44107936G>C | CA380179886 | EXT2 | c.224G>C (p.Ser75Thr) n.383G>C c.-544+12084G>C (n.-544+12084G>C) n.398G>C n.641G>C n.2785G>C c.323G>C (p.Ser108Thr) c.362G>C (p.Ser121Thr) c.263G>C (p.Ser88Thr) | |
11 | g.44107936G>T | CA380179885 | EXT2 | c.224G>T (p.Ser75Ile) n.383G>T c.-544+12084G>T (n.-544+12084G>T) n.398G>T n.641G>T n.2785G>T c.323G>T (p.Ser108Ile) c.362G>T (p.Ser121Ile) c.263G>T (p.Ser88Ile) | |
11 | g.44107937T>A | CA380179887 | EXT2 | c.225T>A (p.Ser75Arg) n.384T>A c.-544+12085T>A (n.-544+12085T>A) n.399T>A n.642T>A n.2786T>A c.324T>A (p.Ser108Arg) c.363T>A (p.Ser121Arg) c.264T>A (p.Ser88Arg) | |
11 | g.44107937T>C | CA474035045 | EXT2 | c.225T>C (p.Ser75=) n.384T>C c.-544+12085T>C (n.-544+12085T>C) n.399T>C n.642T>C n.2786T>C c.324T>C (p.Ser108=) c.363T>C (p.Ser121=) c.264T>C (p.Ser88=) | dbSNP gnomAD v4 |
11 | g.44107937T>G | CA380179888 | EXT2 | c.225T>G (p.Ser75Arg) n.384T>G c.-544+12085T>G (n.-544+12085T>G) n.399T>G n.642T>G n.2786T>G c.324T>G (p.Ser108Arg) c.363T>G (p.Ser121Arg) c.264T>G (p.Ser88Arg) | |
11 | g.44107937T= | CA1967875543 | EXT2 | c.225T= (p.Ser75=) n.384T= c.-544+12085T= (n.-544+12085T=) n.399T= n.642T= n.2786T= c.324T= (p.Ser108=) c.363T= (p.Ser121=) c.264T= (p.Ser88=) | |
11 | g.44107938C>A | CA221452951 | EXT2 | c.226C>A (p.Pro76Thr) n.385C>A c.-544+12086C>A (n.-544+12086C>A) n.400C>A n.643C>A n.2787C>A c.325C>A (p.Pro109Thr) c.364C>A (p.Pro122Thr) c.265C>A (p.Pro89Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.44107938C= | CA1967875546 | EXT2 | c.226C= (p.Pro76=) n.385C= c.-544+12086C= (n.-544+12086C=) n.400C= n.643C= n.2787C= c.325C= (p.Pro109=) c.364C= (p.Pro122=) c.265C= (p.Pro89=) | |
11 | g.44107938C>G | CA380179889 | EXT2 | c.226C>G (p.Pro76Ala) n.385C>G c.-544+12086C>G (n.-544+12086C>G) n.400C>G n.643C>G n.2787C>G c.325C>G (p.Pro109Ala) c.364C>G (p.Pro122Ala) c.265C>G (p.Pro89Ala) | |
11 | g.44107938C>T | CA380179890 | EXT2 | c.226C>T (p.Pro76Ser) n.385C>T c.-544+12086C>T (n.-544+12086C>T) n.400C>T n.643C>T n.2787C>T c.325C>T (p.Pro109Ser) c.364C>T (p.Pro122Ser) c.265C>T (p.Pro89Ser) | dbSNP gnomAD v2 |
11 | g.44107939C>A | CA5954845 | EXT2 | c.227C>A (p.Pro76His) n.386C>A c.-544+12087C>A (n.-544+12087C>A) n.401C>A n.644C>A n.2788C>A c.326C>A (p.Pro109His) c.365C>A (p.Pro122His) c.266C>A (p.Pro89His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107939C= | CA1967875549 | EXT2 | c.227C= (p.Pro76=) n.386C= c.-544+12087C= (n.-544+12087C=) n.401C= n.644C= n.2788C= c.326C= (p.Pro109=) c.365C= (p.Pro122=) c.266C= (p.Pro89=) | |
11 | g.44107939C>G | CA380179891 | EXT2 | c.227C>G (p.Pro76Arg) n.386C>G c.-544+12087C>G (n.-544+12087C>G) n.401C>G n.644C>G n.2788C>G c.326C>G (p.Pro109Arg) c.365C>G (p.Pro122Arg) c.266C>G (p.Pro89Arg) | |
11 | g.44107939C>T | CA380179892 | EXT2 | c.227C>T (p.Pro76Leu) n.386C>T c.-544+12087C>T (n.-544+12087C>T) n.401C>T n.644C>T n.2788C>T c.326C>T (p.Pro109Leu) c.365C>T (p.Pro122Leu) c.266C>T (p.Pro89Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107940C>A | CA474035048 | EXT2 | c.228C>A (p.Pro76=) n.387C>A c.-544+12088C>A (n.-544+12088C>A) n.402C>A n.645C>A n.2789C>A c.327C>A (p.Pro109=) c.366C>A (p.Pro122=) c.267C>A (p.Pro89=) | |
11 | g.44107940C>G | CA474035047 | EXT2 | c.228C>G (p.Pro76=) n.387C>G c.-544+12088C>G (n.-544+12088C>G) n.402C>G n.645C>G n.2789C>G c.327C>G (p.Pro109=) c.366C>G (p.Pro122=) c.267C>G (p.Pro89=) | |
11 | g.44107940C>T | CA474035046 | EXT2 | c.228C>T (p.Pro76=) n.387C>T c.-544+12088C>T (n.-544+12088C>T) n.402C>T n.645C>T n.2789C>T c.327C>T (p.Pro109=) c.366C>T (p.Pro122=) c.267C>T (p.Pro89=) | gnomAD v4 |
11 | g.44107941A>C | CA380179893 | EXT2 | c.229A>C (p.Ile77Leu) n.388A>C c.-544+12089A>C (n.-544+12089A>C) n.403A>C n.646A>C n.2790A>C c.328A>C (p.Ile110Leu) c.367A>C (p.Ile123Leu) c.268A>C (p.Ile90Leu) | |
11 | g.44107941A>G | CA380179894 | EXT2 | c.229A>G (p.Ile77Val) n.388A>G c.-544+12089A>G (n.-544+12089A>G) n.403A>G n.646A>G n.2790A>G c.328A>G (p.Ile110Val) c.367A>G (p.Ile123Val) c.268A>G (p.Ile90Val) | |
11 | g.44107941A>T | CA380179895 | EXT2 | c.229A>T (p.Ile77Phe) n.388A>T c.-544+12089A>T (n.-544+12089A>T) n.403A>T n.646A>T n.2790A>T c.328A>T (p.Ile110Phe) c.367A>T (p.Ile123Phe) c.268A>T (p.Ile90Phe) | |
11 | g.44107942T>A | CA380179898 | EXT2 | c.230T>A (p.Ile77Asn) n.389T>A c.-544+12090T>A (n.-544+12090T>A) n.404T>A n.647T>A n.2791T>A c.329T>A (p.Ile110Asn) c.368T>A (p.Ile123Asn) c.269T>A (p.Ile90Asn) | |
11 | g.44107942T>C | CA380179897 | EXT2 | c.230T>C (p.Ile77Thr) n.389T>C c.-544+12090T>C (n.-544+12090T>C) n.404T>C n.647T>C n.2791T>C c.329T>C (p.Ile110Thr) c.368T>C (p.Ile123Thr) c.269T>C (p.Ile90Thr) | |
11 | g.44107942T>G | CA380179896 | EXT2 | c.230T>G (p.Ile77Ser) n.389T>G c.-544+12090T>G (n.-544+12090T>G) n.404T>G n.647T>G n.2791T>G c.329T>G (p.Ile110Ser) c.368T>G (p.Ile123Ser) c.269T>G (p.Ile90Ser) | |
11 | g.44107943C>A | CA474035049 | EXT2 | c.231C>A (p.Ile77=) n.390C>A c.-544+12091C>A (n.-544+12091C>A) n.405C>A n.648C>A n.2792C>A c.330C>A (p.Ile110=) c.369C>A (p.Ile123=) c.270C>A (p.Ile90=) | |
11 | g.44107943C= | CA1967875554 | EXT2 | c.231C= (p.Ile77=) n.390C= c.-544+12091C= (n.-544+12091C=) n.405C= n.648C= n.2792C= c.330C= (p.Ile110=) c.369C= (p.Ile123=) c.270C= (p.Ile90=) | |
11 | g.44107943C>G | CA380179899 | EXT2 | c.231C>G (p.Ile77Met) n.390C>G c.-544+12091C>G (n.-544+12091C>G) n.405C>G n.648C>G n.2792C>G c.330C>G (p.Ile110Met) c.369C>G (p.Ile123Met) c.270C>G (p.Ile90Met) | |
11 | g.44107943C>T | CA221452959 | EXT2 | c.231C>T (p.Ile77=) n.390C>T c.-544+12091C>T (n.-544+12091C>T) n.405C>T n.648C>T n.2792C>T c.330C>T (p.Ile110=) c.369C>T (p.Ile123=) c.270C>T (p.Ile90=) | dbSNP gnomAD v4 |
11 | g.44107945del | CA2695213771 | EXT2 | c.233del (p.Pro78GlnfsTer?) n.392del c.-544+12093del (n.-544+12093del) n.407del n.650del n.2794del c.332del (p.Pro111GlnfsTer?) c.371del (p.Pro124GlnfsTer?) c.272del (p.Pro91GlnfsTer?) | |
11 | g.44107944C>A | CA380179900 | EXT2 | c.232C>A (p.Pro78Thr) n.391C>A c.-544+12092C>A (n.-544+12092C>A) n.406C>A n.649C>A n.2793C>A c.331C>A (p.Pro111Thr) c.370C>A (p.Pro124Thr) c.271C>A (p.Pro91Thr) | dbSNP |
11 | g.44107944C= | CA1967875561 | EXT2 | c.232C= (p.Pro78=) n.391C= c.-544+12092C= (n.-544+12092C=) n.406C= n.649C= n.2793C= c.331C= (p.Pro111=) c.370C= (p.Pro124=) c.271C= (p.Pro91=) | |
11 | g.44107944C>G | CA159136 | EXT2 | c.232C>G (p.Pro78Ala) n.391C>G c.-544+12092C>G (n.-544+12092C>G) n.406C>G n.649C>G n.2793C>G c.331C>G (p.Pro111Ala) c.370C>G (p.Pro124Ala) c.271C>G (p.Pro91Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107944C>T | CA380179901 | EXT2 | c.232C>T (p.Pro78Ser) n.391C>T c.-544+12092C>T (n.-544+12092C>T) n.406C>T n.649C>T n.2793C>T c.331C>T (p.Pro111Ser) c.370C>T (p.Pro124Ser) c.271C>T (p.Pro91Ser) | gnomAD v4 |
11 | g.44107945C>A | CA380179902 | EXT2 | c.233C>A (p.Pro78Gln) n.392C>A c.-544+12093C>A (n.-544+12093C>A) n.407C>A n.650C>A n.2794C>A c.332C>A (p.Pro111Gln) c.371C>A (p.Pro124Gln) c.272C>A (p.Pro91Gln) | dbSNP |
11 | g.44107945C>G | CA380179903 | EXT2 | c.233C>G (p.Pro78Arg) n.392C>G c.-544+12093C>G (n.-544+12093C>G) n.407C>G n.650C>G n.2794C>G c.332C>G (p.Pro111Arg) c.371C>G (p.Pro124Arg) c.272C>G (p.Pro91Arg) | |
11 | g.44107945C>T | CA380179904 | EXT2 | c.233C>T (p.Pro78Leu) n.392C>T c.-544+12093C>T (n.-544+12093C>T) n.407C>T n.650C>T n.2794C>T c.332C>T (p.Pro111Leu) c.371C>T (p.Pro124Leu) c.272C>T (p.Pro91Leu) | |
11 | g.44107946A>C | CA474035050 | EXT2 | c.234A>C (p.Pro78=) n.393A>C c.-544+12094A>C (n.-544+12094A>C) n.408A>C n.651A>C n.2795A>C c.333A>C (p.Pro111=) c.372A>C (p.Pro124=) c.273A>C (p.Pro91=) | |
11 | g.44107946A>G | CA474035052 | EXT2 | c.234A>G (p.Pro78=) n.393A>G c.-544+12094A>G (n.-544+12094A>G) n.408A>G n.651A>G n.2795A>G c.333A>G (p.Pro111=) c.372A>G (p.Pro124=) c.273A>G (p.Pro91=) | |
11 | g.44107946A>T | CA474035051 | EXT2 | c.234A>T (p.Pro78=) n.393A>T c.-544+12094A>T (n.-544+12094A>T) n.408A>T n.651A>T n.2795A>T c.333A>T (p.Pro111=) c.372A>T (p.Pro124=) c.273A>T (p.Pro91=) | |
11 | g.44107947G>A | CA380179905 | EXT2 | c.235G>A (p.Glu79Lys) n.394G>A c.-544+12095G>A (n.-544+12095G>A) n.409G>A n.652G>A n.2796G>A c.334G>A (p.Glu112Lys) c.373G>A (p.Glu125Lys) c.274G>A (p.Glu92Lys) | dbSNP gnomAD v4 |
11 | g.44107947G>C | CA380179906 | EXT2 | c.235G>C (p.Glu79Gln) n.394G>C c.-544+12095G>C (n.-544+12095G>C) n.409G>C n.652G>C n.2796G>C c.334G>C (p.Glu112Gln) c.373G>C (p.Glu125Gln) c.274G>C (p.Glu92Gln) | gnomAD v4 |
11 | g.44107947G>T | CA380179907 | EXT2 | c.235G>T (p.Glu79Ter) n.394G>T c.-544+12095G>T (n.-544+12095G>T) n.409G>T n.652G>T n.2796G>T c.334G>T (p.Glu112Ter) c.373G>T (p.Glu125Ter) c.274G>T (p.Glu92Ter) | |
11 | g.44107948A= | CA1967875567 | EXT2 | c.236A= (p.Glu79=) n.395A= c.-544+12096A= (n.-544+12096A=) n.410A= n.653A= n.2797A= c.335A= (p.Glu112=) c.374A= (p.Glu125=) c.275A= (p.Glu92=) | |
11 | g.44107948A>C | CA380179908 | EXT2 | c.236A>C (p.Glu79Ala) n.395A>C c.-544+12096A>C (n.-544+12096A>C) n.410A>C n.653A>C n.2797A>C c.335A>C (p.Glu112Ala) c.374A>C (p.Glu125Ala) c.275A>C (p.Glu92Ala) | |
11 | g.44107948A>G | CA380179909 | EXT2 | c.236A>G (p.Glu79Gly) n.395A>G c.-544+12096A>G (n.-544+12096A>G) n.410A>G n.653A>G n.2797A>G c.335A>G (p.Glu112Gly) c.374A>G (p.Glu125Gly) c.275A>G (p.Glu92Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.44107948A>T | CA380179910 | EXT2 | c.236A>T (p.Glu79Val) n.395A>T c.-544+12096A>T (n.-544+12096A>T) n.410A>T n.653A>T n.2797A>T c.335A>T (p.Glu112Val) c.374A>T (p.Glu125Val) c.275A>T (p.Glu92Val) | |
11 | g.44107949G>A | CA474035053 | EXT2 | c.237G>A (p.Glu79=) n.396G>A c.-544+12097G>A (n.-544+12097G>A) n.411G>A n.654G>A n.2798G>A c.336G>A (p.Glu112=) c.375G>A (p.Glu125=) c.276G>A (p.Glu92=) | gnomAD v4 |
11 | g.44107949G>C | CA380179911 | EXT2 | c.237G>C (p.Glu79Asp) n.396G>C c.-544+12097G>C (n.-544+12097G>C) n.411G>C n.654G>C n.2798G>C c.336G>C (p.Glu112Asp) c.375G>C (p.Glu125Asp) c.276G>C (p.Glu92Asp) | |
11 | g.44107949G>T | CA380179912 | EXT2 | c.237G>T (p.Glu79Asp) n.396G>T c.-544+12097G>T (n.-544+12097G>T) n.411G>T n.654G>T n.2798G>T c.336G>T (p.Glu112Asp) c.375G>T (p.Glu125Asp) c.276G>T (p.Glu92Asp) | |
11 | g.44107949_44107950delinsGC | CA1967875571 | EXT2 | c.237_238delinsGC (p.Glu79=) n.396_397delinsGC c.-544+12097_-544+12098delinsGC (n.-544+12097_-544+12098delinsGC) n.411_412delinsGC n.654_655delinsGC n.2798_2799delinsGC c.336_337delinsGC (p.Glu112=) c.375_376delinsGC (p.Glu125=) c.276_277delinsGC (p.Glu92=) | |
11 | g.44107950del | CA913190254 | EXT2 | c.238del (p.Arg80GlyfsTer?) n.397del c.-544+12098del (n.-544+12098del) n.412del n.655del n.2799del c.337del (p.Arg113GlyfsTer?) c.376del (p.Arg126GlyfsTer?) c.277del (p.Arg93GlyfsTer?) | ClinVar dbSNP |
11 | g.44107950C>A | CA474035054 | EXT2 | c.238C>A (p.Arg80=) n.397C>A c.-544+12098C>A (n.-544+12098C>A) n.412C>A n.655C>A n.2799C>A c.337C>A (p.Arg113=) c.376C>A (p.Arg126=) c.277C>A (p.Arg93=) | |
11 | g.44107950C= | CA1967875579 | EXT2 | c.238C= (p.Arg80=) n.397C= c.-544+12098C= (n.-544+12098C=) n.412C= n.655C= n.2799C= c.337C= (p.Arg113=) c.376C= (p.Arg126=) c.277C= (p.Arg93=) | |
11 | g.44107950C>G | CA380179913 | EXT2 | c.238C>G (p.Arg80Gly) n.397C>G c.-544+12098C>G (n.-544+12098C>G) n.412C>G n.655C>G n.2799C>G c.337C>G (p.Arg113Gly) c.376C>G (p.Arg126Gly) c.277C>G (p.Arg93Gly) | |
11 | g.44107950C>T | CA5954846 | EXT2 | c.238C>T (p.Arg80Trp) n.397C>T c.-544+12098C>T (n.-544+12098C>T) n.412C>T n.655C>T n.2799C>T c.337C>T (p.Arg113Trp) c.376C>T (p.Arg126Trp) c.277C>T (p.Arg93Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107950_44107951delinsCG | CA1967875581 | EXT2 | c.238_239delinsCG (p.Arg80=) n.397_398delinsCG c.-544+12098_-544+12099delinsCG (n.-544+12098_-544+12099delinsCG) n.412_413delinsCG n.655_656delinsCG n.2799_2800delinsCG c.337_338delinsCG (p.Arg113=) c.376_377delinsCG (p.Arg126=) c.277_278delinsCG (p.Arg93=) | |
11 | g.44107951G>A | CA380179914 | EXT2 | c.239G>A (p.Arg80Gln) n.398G>A c.-544+12099G>A (n.-544+12099G>A) n.413G>A n.656G>A n.2800G>A c.338G>A (p.Arg113Gln) c.377G>A (p.Arg126Gln) c.278G>A (p.Arg93Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107951G>C | CA5954847 | EXT2 | c.239G>C (p.Arg80Pro) n.398G>C c.-544+12099G>C (n.-544+12099G>C) n.413G>C n.656G>C n.2800G>C c.338G>C (p.Arg113Pro) c.377G>C (p.Arg126Pro) c.278G>C (p.Arg93Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107951G= | CA1967875591 | EXT2 | c.239G= (p.Arg80=) n.398G= c.-544+12099G= (n.-544+12099G=) n.413G= n.656G= n.2800G= c.338G= (p.Arg113=) c.377G= (p.Arg126=) c.278G= (p.Arg93=) | |
11 | g.44107951G>T | CA380179915 | EXT2 | c.239G>T (p.Arg80Leu) n.398G>T c.-544+12099G>T (n.-544+12099G>T) n.413G>T n.656G>T n.2800G>T c.338G>T (p.Arg113Leu) c.377G>T (p.Arg126Leu) c.278G>T (p.Arg93Leu) | |
11 | g.44107956dup | CA2573146275 | EXT2 | c.244dup (p.Asp82GlyfsTer11) n.403dup c.-544+12104dup (n.-544+12104dup) n.418dup n.661dup n.2805dup c.343dup (p.Asp115GlyfsTer11) c.382dup (p.Asp128GlyfsTer11) c.283dup (p.Asp95GlyfsTer11) | ClinVar dbSNP |
11 | g.44107956del | CA658658048 | EXT2 | c.244del (p.Asp82IlefsTer30) n.403del c.-544+12104del (n.-544+12104del) n.418del n.661del n.2805del c.343del (p.Asp115IlefsTer30) c.382del (p.Asp128IlefsTer30) c.283del (p.Asp95IlefsTer30) | ClinVar dbSNP gnomAD v4 |
11 | g.44107952G>A | CA474035055 | EXT2 | c.240G>A (p.Arg80=) n.399G>A c.-544+12100G>A (n.-544+12100G>A) n.414G>A n.657G>A n.2801G>A c.339G>A (p.Arg113=) c.378G>A (p.Arg126=) c.279G>A (p.Arg93=) | |
11 | g.44107952G>C | CA474035057 | EXT2 | c.240G>C (p.Arg80=) n.399G>C c.-544+12100G>C (n.-544+12100G>C) n.414G>C n.657G>C n.2801G>C c.339G>C (p.Arg113=) c.378G>C (p.Arg126=) c.279G>C (p.Arg93=) | |
11 | g.44107952G>T | CA474035056 | EXT2 | c.240G>T (p.Arg80=) n.399G>T c.-544+12100G>T (n.-544+12100G>T) n.414G>T n.657G>T n.2801G>T c.339G>T (p.Arg113=) c.378G>T (p.Arg126=) c.279G>T (p.Arg93=) | |
11 | g.44107953G>A | CA380179916 | EXT2 | c.241G>A (p.Gly81Arg) n.400G>A c.-544+12101G>A (n.-544+12101G>A) n.415G>A n.658G>A n.2802G>A c.340G>A (p.Gly114Arg) c.379G>A (p.Gly127Arg) c.280G>A (p.Gly94Arg) | dbSNP |
11 | g.44107953G>C | CA380179917 | EXT2 | c.241G>C (p.Gly81Arg) n.400G>C c.-544+12101G>C (n.-544+12101G>C) n.415G>C n.658G>C n.2802G>C c.340G>C (p.Gly114Arg) c.379G>C (p.Gly127Arg) c.280G>C (p.Gly94Arg) | |
11 | g.44107953G>T | CA380179918 | EXT2 | c.241G>T (p.Gly81Trp) n.400G>T c.-544+12101G>T (n.-544+12101G>T) n.415G>T n.658G>T n.2802G>T c.340G>T (p.Gly114Trp) c.379G>T (p.Gly127Trp) c.280G>T (p.Gly94Trp) | |
11 | g.44107954G>A | CA380179919 | EXT2 | c.242G>A (p.Gly81Glu) n.401G>A c.-544+12102G>A (n.-544+12102G>A) n.416G>A n.659G>A n.2803G>A c.341G>A (p.Gly114Glu) c.380G>A (p.Gly127Glu) c.281G>A (p.Gly94Glu) | dbSNP |
11 | g.44107954G>C | CA380179920 | EXT2 | c.242G>C (p.Gly81Ala) n.401G>C c.-544+12102G>C (n.-544+12102G>C) n.416G>C n.659G>C n.2803G>C c.341G>C (p.Gly114Ala) c.380G>C (p.Gly127Ala) c.281G>C (p.Gly94Ala) | |
11 | g.44107954G>T | CA380179921 | EXT2 | c.242G>T (p.Gly81Val) n.401G>T c.-544+12102G>T (n.-544+12102G>T) n.416G>T n.659G>T n.2803G>T c.341G>T (p.Gly114Val) c.380G>T (p.Gly127Val) c.281G>T (p.Gly94Val) | |
11 | g.44107955G>A | CA474035058 | EXT2 | c.243G>A (p.Gly81=) n.402G>A c.-544+12103G>A (n.-544+12103G>A) n.417G>A n.660G>A n.2804G>A c.342G>A (p.Gly114=) c.381G>A (p.Gly127=) c.282G>A (p.Gly94=) | gnomAD v4 |
11 | g.44107955G>C | CA474035059 | EXT2 | c.243G>C (p.Gly81=) n.402G>C c.-544+12103G>C (n.-544+12103G>C) n.417G>C n.660G>C n.2804G>C c.342G>C (p.Gly114=) c.381G>C (p.Gly127=) c.282G>C (p.Gly94=) | |
11 | g.44107955G= | CA1967875597 | EXT2 | c.243G= (p.Gly81=) n.402G= c.-544+12103G= (n.-544+12103G=) n.417G= n.660G= n.2804G= c.342G= (p.Gly114=) c.381G= (p.Gly127=) c.282G= (p.Gly94=) | |
11 | g.44107955G>T | CA474035060 | EXT2 | c.243G>T (p.Gly81=) n.402G>T c.-544+12103G>T (n.-544+12103G>T) n.417G>T n.660G>T n.2804G>T c.342G>T (p.Gly114=) c.381G>T (p.Gly127=) c.282G>T (p.Gly94=) | dbSNP |
11 | g.44107956G>A | CA380179922 | EXT2 | c.244G>A (p.Asp82Asn) n.403G>A c.-544+12104G>A (n.-544+12104G>A) n.418G>A n.661G>A n.2805G>A c.343G>A (p.Asp115Asn) c.382G>A (p.Asp128Asn) c.283G>A (p.Asp95Asn) | |
11 | g.44107956G>C | CA380179923 | EXT2 | c.244G>C (p.Asp82His) n.403G>C c.-544+12104G>C (n.-544+12104G>C) n.418G>C n.661G>C n.2805G>C c.343G>C (p.Asp115His) c.382G>C (p.Asp128His) c.283G>C (p.Asp95His) | |
11 | g.44107956G= | CA1967875603 | EXT2 | c.244G= (p.Asp82=) n.403G= c.-544+12104G= (n.-544+12104G=) n.418G= n.661G= n.2805G= c.343G= (p.Asp115=) c.382G= (p.Asp128=) c.283G= (p.Asp95=) | |
11 | g.44107956G>T | CA380179924 | EXT2 | c.244G>T (p.Asp82Tyr) n.403G>T c.-544+12104G>T (n.-544+12104G>T) n.418G>T n.661G>T n.2805G>T c.343G>T (p.Asp115Tyr) c.382G>T (p.Asp128Tyr) c.283G>T (p.Asp95Tyr) | dbSNP |
11 | g.44107956_44107957insC | CA2695213773 | EXT2 | c.244_245insC (p.Asp82AlafsTer11) n.403_404insC c.-544+12104_-544+12105insC (n.-544+12104_-544+12105insC) n.418_419insC n.661_662insC n.2805_2806insC c.343_344insC (p.Asp115AlafsTer11) c.382_383insC (p.Asp128AlafsTer11) c.283_284insC (p.Asp95AlafsTer11) | |
11 | g.44107956_44107957insT | CA937445078 | EXT2 | c.244_245insT (p.Asp82ValfsTer11) n.403_404insT c.-544+12104_-544+12105insT (n.-544+12104_-544+12105insT) n.418_419insT n.661_662insT n.2805_2806insT c.343_344insT (p.Asp115ValfsTer11) c.382_383insT (p.Asp128ValfsTer11) c.283_284insT (p.Asp95ValfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107957del | CA2695213772 | EXT2 | c.245del (p.Asp82ValfsTer30) n.404del c.-544+12105del (n.-544+12105del) n.419del n.662del n.2806del c.344del (p.Asp115ValfsTer30) c.383del (p.Asp128ValfsTer30) c.284del (p.Asp95ValfsTer30) | |
11 | g.44107957A= | CA1967875616 | EXT2 | c.245A= (p.Asp82=) n.404A= c.-544+12105A= (n.-544+12105A=) n.419A= n.662A= n.2806A= c.344A= (p.Asp115=) c.383A= (p.Asp128=) c.284A= (p.Asp95=) | |
11 | g.44107957A>C | CA5954848 | EXT2 | c.245A>C (p.Asp82Ala) n.404A>C c.-544+12105A>C (n.-544+12105A>C) n.419A>C n.662A>C n.2806A>C c.344A>C (p.Asp115Ala) c.383A>C (p.Asp128Ala) c.284A>C (p.Asp95Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107957A>G | CA380179926 | EXT2 | c.245A>G (p.Asp82Gly) n.404A>G c.-544+12105A>G (n.-544+12105A>G) n.419A>G n.662A>G n.2806A>G c.344A>G (p.Asp115Gly) c.383A>G (p.Asp128Gly) c.284A>G (p.Asp95Gly) | |
11 | g.44107957A>T | CA380179925 | EXT2 | c.245A>T (p.Asp82Val) n.404A>T c.-544+12105A>T (n.-544+12105A>T) n.419A>T n.662A>T n.2806A>T c.344A>T (p.Asp115Val) c.383A>T (p.Asp128Val) c.284A>T (p.Asp95Val) | |
11 | g.44107957dup | CA658658049 | EXT2 | c.245dup (p.Asp82GlufsTer11) n.404dup c.-544+12105dup (n.-544+12105dup) n.419dup n.662dup n.2806dup c.344dup (p.Asp115GlufsTer11) c.383dup (p.Asp128GlufsTer11) c.284dup (p.Asp95GlufsTer11) | ClinVar dbSNP |
11 | g.44107958T>A | CA380179927 | EXT2 | c.246T>A (p.Asp82Glu) n.405T>A c.-544+12106T>A (n.-544+12106T>A) n.420T>A n.663T>A n.2807T>A c.345T>A (p.Asp115Glu) c.384T>A (p.Asp128Glu) c.285T>A (p.Asp95Glu) | |
11 | g.44107958T>C | CA5954849 | EXT2 | c.246T>C (p.Asp82=) n.405T>C c.-544+12106T>C (n.-544+12106T>C) n.420T>C n.663T>C n.2807T>C c.345T>C (p.Asp115=) c.384T>C (p.Asp128=) c.285T>C (p.Asp95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107958T>G | CA380179928 | EXT2 | c.246T>G (p.Asp82Glu) n.405T>G c.-544+12106T>G (n.-544+12106T>G) n.420T>G n.663T>G n.2807T>G c.345T>G (p.Asp115Glu) c.384T>G (p.Asp128Glu) c.285T>G (p.Asp95Glu) | |
11 | g.44107958T= | CA1967875623 | EXT2 | c.246T= (p.Asp82=) n.405T= c.-544+12106T= (n.-544+12106T=) n.420T= n.663T= n.2807T= c.345T= (p.Asp115=) c.384T= (p.Asp128=) c.285T= (p.Asp95=) | |
11 | g.44107960_44107961del | CA2580615663 | EXT2 | c.248_249del (p.Leu83GlnfsTer9) n.407_408del c.-544+12108_-544+12109del (n.-544+12108_-544+12109del) n.422_423del n.665_666del n.2809_2810del c.347_348del (p.Leu116GlnfsTer9) c.386_387del (p.Leu129GlnfsTer9) c.287_288del (p.Leu96GlnfsTer9) | ClinVar |
11 | g.44107959C>A | CA380179929 | EXT2 | c.247C>A (p.Leu83Ile) n.406C>A c.-544+12107C>A (n.-544+12107C>A) n.421C>A n.664C>A n.2808C>A c.346C>A (p.Leu116Ile) c.385C>A (p.Leu129Ile) c.286C>A (p.Leu96Ile) | gnomAD v4 |
11 | g.44107959C= | CA1967875627 | EXT2 | c.247C= (p.Leu83=) n.406C= c.-544+12107C= (n.-544+12107C=) n.421C= n.664C= n.2808C= c.346C= (p.Leu116=) c.385C= (p.Leu129=) c.286C= (p.Leu96=) | |
11 | g.44107959C>G | CA380179930 | EXT2 | c.247C>G (p.Leu83Val) n.406C>G c.-544+12107C>G (n.-544+12107C>G) n.421C>G n.664C>G n.2808C>G c.346C>G (p.Leu116Val) c.385C>G (p.Leu129Val) c.286C>G (p.Leu96Val) | |
11 | g.44107959C>T | CA380179931 | EXT2 | c.247C>T (p.Leu83Phe) n.406C>T c.-544+12107C>T (n.-544+12107C>T) n.421C>T n.664C>T n.2808C>T c.346C>T (p.Leu116Phe) c.385C>T (p.Leu129Phe) c.286C>T (p.Leu96Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107960T>A | CA380179932 | EXT2 | c.248T>A (p.Leu83His) n.407T>A c.-544+12108T>A (n.-544+12108T>A) n.422T>A n.665T>A n.2809T>A c.347T>A (p.Leu116His) c.386T>A (p.Leu129His) c.287T>A (p.Leu96His) | |
11 | g.44107960T>C | CA380179933 | EXT2 | c.248T>C (p.Leu83Pro) n.407T>C c.-544+12108T>C (n.-544+12108T>C) n.422T>C n.665T>C n.2809T>C c.347T>C (p.Leu116Pro) c.386T>C (p.Leu129Pro) c.287T>C (p.Leu96Pro) | |
11 | g.44107960T>G | CA380179934 | EXT2 | c.248T>G (p.Leu83Arg) n.407T>G c.-544+12108T>G (n.-544+12108T>G) n.422T>G n.665T>G n.2809T>G c.347T>G (p.Leu116Arg) c.386T>G (p.Leu129Arg) c.287T>G (p.Leu96Arg) | |
11 | g.44107961C>A | CA474035063 | EXT2 | c.249C>A (p.Leu83=) n.408C>A c.-544+12109C>A (n.-544+12109C>A) n.423C>A n.666C>A n.2810C>A c.348C>A (p.Leu116=) c.387C>A (p.Leu129=) c.288C>A (p.Leu96=) | |
11 | g.44107961C>G | CA474035061 | EXT2 | c.249C>G (p.Leu83=) n.408C>G c.-544+12109C>G (n.-544+12109C>G) n.423C>G n.666C>G n.2810C>G c.348C>G (p.Leu116=) c.387C>G (p.Leu129=) c.288C>G (p.Leu96=) | dbSNP |
11 | g.44107961C>T | CA474035062 | EXT2 | c.249C>T (p.Leu83=) n.408C>T c.-544+12109C>T (n.-544+12109C>T) n.423C>T n.666C>T n.2810C>T c.348C>T (p.Leu116=) c.387C>T (p.Leu129=) c.288C>T (p.Leu96=) | |
11 | g.44107962A>C | CA380179935 | EXT2 | c.250A>C (p.Ser84Arg) n.409A>C c.-544+12110A>C (n.-544+12110A>C) n.424A>C n.667A>C n.2811A>C c.349A>C (p.Ser117Arg) c.388A>C (p.Ser130Arg) c.289A>C (p.Ser97Arg) | |
11 | g.44107962A>G | CA380179936 | EXT2 | c.250A>G (p.Ser84Gly) n.409A>G c.-544+12110A>G (n.-544+12110A>G) n.424A>G n.667A>G n.2811A>G c.349A>G (p.Ser117Gly) c.388A>G (p.Ser130Gly) c.289A>G (p.Ser97Gly) | |
11 | g.44107962A>T | CA380179937 | EXT2 | c.250A>T (p.Ser84Cys) n.409A>T c.-544+12110A>T (n.-544+12110A>T) n.424A>T n.667A>T n.2811A>T c.349A>T (p.Ser117Cys) c.388A>T (p.Ser130Cys) c.289A>T (p.Ser97Cys) | |
11 | g.44107963G>A | CA380179940 | EXT2 | c.251G>A (p.Ser84Asn) n.410G>A c.-544+12111G>A (n.-544+12111G>A) n.425G>A n.668G>A n.2812G>A c.350G>A (p.Ser117Asn) c.389G>A (p.Ser130Asn) c.290G>A (p.Ser97Asn) | dbSNP |
11 | g.44107963G>C | CA380179938 | EXT2 | c.251G>C (p.Ser84Thr) n.410G>C c.-544+12111G>C (n.-544+12111G>C) n.425G>C n.668G>C n.2812G>C c.350G>C (p.Ser117Thr) c.389G>C (p.Ser130Thr) c.290G>C (p.Ser97Thr) | |
11 | g.44107963G>T | CA380179939 | EXT2 | c.251G>T (p.Ser84Ile) n.410G>T c.-544+12111G>T (n.-544+12111G>T) n.425G>T n.668G>T n.2812G>T c.350G>T (p.Ser117Ile) c.389G>T (p.Ser130Ile) c.290G>T (p.Ser97Ile) | |
11 | g.44107964T>A | CA380179941 | EXT2 | c.252T>A (p.Ser84Arg) n.411T>A c.-544+12112T>A (n.-544+12112T>A) n.426T>A n.669T>A n.2813T>A c.351T>A (p.Ser117Arg) c.390T>A (p.Ser130Arg) c.291T>A (p.Ser97Arg) | |
11 | g.44107964T>C | CA474035064 | EXT2 | c.252T>C (p.Ser84=) n.411T>C c.-544+12112T>C (n.-544+12112T>C) n.426T>C n.669T>C n.2813T>C c.351T>C (p.Ser117=) c.390T>C (p.Ser130=) c.291T>C (p.Ser97=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107964T>G | CA380179942 | EXT2 | c.252T>G (p.Ser84Arg) n.411T>G c.-544+12112T>G (n.-544+12112T>G) n.426T>G n.669T>G n.2813T>G c.351T>G (p.Ser117Arg) c.390T>G (p.Ser130Arg) c.291T>G (p.Ser97Arg) | |
11 | g.44107964T= | CA1967875632 | EXT2 | c.252T= (p.Ser84=) n.411T= c.-544+12112T= (n.-544+12112T=) n.426T= n.669T= n.2813T= c.351T= (p.Ser117=) c.390T= (p.Ser130=) c.291T= (p.Ser97=) | |
11 | g.44107964_44107971delinsTTGCAGAA | CA1967875630 | EXT2 | c.252_259delinsTTGCAGAA (p.Ser84=) n.411_418delinsTTGCAGAA c.-544+12112_-544+12119delinsTTGCAGAA (n.-544+12112_-544+12119delinsTTGCAGAA) n.426_433delinsTTGCAGAA n.669_676delinsTTGCAGAA n.2813_2820delinsTTGCAGAA c.351_358delinsTTGCAGAA (p.Ser117=) c.390_397delinsTTGCAGAA (p.Ser130=) c.291_298delinsTTGCAGAA (p.Ser97=) | |
11 | g.44107965T>A | CA380179943 | EXT2 | c.253T>A (p.Cys85Ser) n.412T>A c.-544+12113T>A (n.-544+12113T>A) n.427T>A n.670T>A n.2814T>A c.352T>A (p.Cys118Ser) c.391T>A (p.Cys131Ser) c.292T>A (p.Cys98Ser) | dbSNP gnomAD v4 |
11 | g.44107965T>C | CA380179944 | EXT2 | c.253T>C (p.Cys85Arg) n.412T>C c.-544+12113T>C (n.-544+12113T>C) n.427T>C n.670T>C n.2814T>C c.352T>C (p.Cys118Arg) c.391T>C (p.Cys131Arg) c.292T>C (p.Cys98Arg) | |
11 | g.44107965T>G | CA5954850 | EXT2 | c.253T>G (p.Cys85Gly) n.412T>G c.-544+12113T>G (n.-544+12113T>G) n.427T>G n.670T>G n.2814T>G c.352T>G (p.Cys118Gly) c.391T>G (p.Cys131Gly) c.292T>G (p.Cys98Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107965T= | CA1967875639 | EXT2 | c.253T= (p.Cys85=) n.412T= c.-544+12113T= (n.-544+12113T=) n.427T= n.670T= n.2814T= c.352T= (p.Cys118=) c.391T= (p.Cys131=) c.292T= (p.Cys98=) | |
11 | g.44107969_44107975del | CA1139661915 | EXT2 | c.257_263del (p.Arg86ThrfsTer24) n.416_422del c.-544+12117_-544+12123del (n.-544+12117_-544+12123del) n.431_437del n.674_680del n.2818_2824del c.356_362del (p.Arg119ThrfsTer24) c.395_401del (p.Arg132ThrfsTer24) c.296_302del (p.Arg99ThrfsTer24) | ClinVar dbSNP |
11 | g.44107966G>A | CA380179945 | EXT2 | c.254G>A (p.Cys85Tyr) n.413G>A c.-544+12114G>A (n.-544+12114G>A) n.428G>A n.671G>A n.2815G>A c.353G>A (p.Cys118Tyr) c.392G>A (p.Cys131Tyr) c.293G>A (p.Cys98Tyr) | dbSNP |
11 | g.44107966G>C | CA380179946 | EXT2 | c.254G>C (p.Cys85Ser) n.413G>C c.-544+12114G>C (n.-544+12114G>C) n.428G>C n.671G>C n.2815G>C c.353G>C (p.Cys118Ser) c.392G>C (p.Cys131Ser) c.293G>C (p.Cys98Ser) | |
11 | g.44107966G= | CA1967875644 | EXT2 | c.254G= (p.Cys85=) n.413G= c.-544+12114G= (n.-544+12114G=) n.428G= n.671G= n.2815G= c.353G= (p.Cys118=) c.392G= (p.Cys131=) c.293G= (p.Cys98=) | |
11 | g.44107966G>T | CA380179947 | EXT2 | c.254G>T (p.Cys85Phe) n.413G>T c.-544+12114G>T (n.-544+12114G>T) n.428G>T n.671G>T n.2815G>T c.353G>T (p.Cys118Phe) c.392G>T (p.Cys131Phe) c.293G>T (p.Cys98Phe) | dbSNP gnomAD v2 |
11 | g.44107967C>A | CA380179948 | EXT2 | c.255C>A (p.Cys85Ter) n.414C>A c.-544+12115C>A (n.-544+12115C>A) n.429C>A n.672C>A n.2816C>A c.354C>A (p.Cys118Ter) c.393C>A (p.Cys131Ter) c.294C>A (p.Cys98Ter) | |
11 | g.44107967C>G | CA380179949 | EXT2 | c.255C>G (p.Cys85Trp) n.414C>G c.-544+12115C>G (n.-544+12115C>G) n.429C>G n.672C>G n.2816C>G c.354C>G (p.Cys118Trp) c.393C>G (p.Cys131Trp) c.294C>G (p.Cys98Trp) | |
11 | g.44107967C>T | CA474035065 | EXT2 | c.255C>T (p.Cys85=) n.414C>T c.-544+12115C>T (n.-544+12115C>T) n.429C>T n.672C>T n.2816C>T c.354C>T (p.Cys118=) c.393C>T (p.Cys131=) c.294C>T (p.Cys98=) | dbSNP |
11 | g.44107968A>C | CA474035066 | EXT2 | c.256A>C (p.Arg86=) n.415A>C c.-544+12116A>C (n.-544+12116A>C) n.430A>C n.673A>C n.2817A>C c.355A>C (p.Arg119=) c.394A>C (p.Arg132=) c.295A>C (p.Arg99=) | |
11 | g.44107968A>G | CA380179950 | EXT2 | c.256A>G (p.Arg86Gly) n.415A>G c.-544+12116A>G (n.-544+12116A>G) n.430A>G n.673A>G n.2817A>G c.355A>G (p.Arg119Gly) c.394A>G (p.Arg132Gly) c.295A>G (p.Arg99Gly) | |
11 | g.44107968A>T | CA380179951 | EXT2 | c.256A>T (p.Arg86Ter) n.415A>T c.-544+12116A>T (n.-544+12116A>T) n.430A>T n.673A>T n.2817A>T c.355A>T (p.Arg119Ter) c.394A>T (p.Arg132Ter) c.295A>T (p.Arg99Ter) | |
11 | g.44107969G>A | CA380179953 | EXT2 | c.257G>A (p.Arg86Lys) n.416G>A c.-544+12117G>A (n.-544+12117G>A) n.431G>A n.674G>A n.2818G>A c.356G>A (p.Arg119Lys) c.395G>A (p.Arg132Lys) c.296G>A (p.Arg99Lys) | |
11 | g.44107969G>C | CA380179954 | EXT2 | c.257G>C (p.Arg86Thr) n.416G>C c.-544+12117G>C (n.-544+12117G>C) n.431G>C n.674G>C n.2818G>C c.356G>C (p.Arg119Thr) c.395G>C (p.Arg132Thr) c.296G>C (p.Arg99Thr) | COSMIC |
11 | g.44107969G>T | CA380179952 | EXT2 | c.257G>T (p.Arg86Ile) n.416G>T c.-544+12117G>T (n.-544+12117G>T) n.431G>T n.674G>T n.2818G>T c.356G>T (p.Arg119Ile) c.395G>T (p.Arg132Ile) c.296G>T (p.Arg99Ile) | |
11 | g.44107970A>C | CA380179956 | EXT2 | c.258A>C (p.Arg86Ser) n.417A>C c.-544+12118A>C (n.-544+12118A>C) n.432A>C n.675A>C n.2819A>C c.357A>C (p.Arg119Ser) c.396A>C (p.Arg132Ser) c.297A>C (p.Arg99Ser) | |
11 | g.44107970A>G | CA474035067 | EXT2 | c.258A>G (p.Arg86=) n.417A>G c.-544+12118A>G (n.-544+12118A>G) n.432A>G n.675A>G n.2819A>G c.357A>G (p.Arg119=) c.396A>G (p.Arg132=) c.297A>G (p.Arg99=) | |
11 | g.44107970A>T | CA380179955 | EXT2 | c.258A>T (p.Arg86Ser) n.417A>T c.-544+12118A>T (n.-544+12118A>T) n.432A>T n.675A>T n.2819A>T c.357A>T (p.Arg119Ser) c.396A>T (p.Arg132Ser) c.297A>T (p.Arg99Ser) | |
11 | g.44107971A>C | CA380179957 | EXT2 | c.259A>C (p.Met87Leu) n.418A>C c.-544+12119A>C (n.-544+12119A>C) n.433A>C n.676A>C n.2820A>C c.358A>C (p.Met120Leu) c.397A>C (p.Met133Leu) c.298A>C (p.Met100Leu) | |
11 | g.44107971A>G | CA380179958 | EXT2 | c.259A>G (p.Met87Val) n.418A>G c.-544+12119A>G (n.-544+12119A>G) n.433A>G n.676A>G n.2820A>G c.358A>G (p.Met120Val) c.397A>G (p.Met133Val) c.298A>G (p.Met100Val) | |
11 | g.44107971A>T | CA380179959 | EXT2 | c.259A>T (p.Met87Leu) n.418A>T c.-544+12119A>T (n.-544+12119A>T) n.433A>T n.676A>T n.2820A>T c.358A>T (p.Met120Leu) c.397A>T (p.Met133Leu) c.298A>T (p.Met100Leu) | |
11 | g.44107972T>A | CA380179960 | EXT2 | c.260T>A (p.Met87Lys) n.419T>A c.-544+12120T>A (n.-544+12120T>A) n.434T>A n.677T>A n.2821T>A c.359T>A (p.Met120Lys) c.398T>A (p.Met133Lys) c.299T>A (p.Met100Lys) | dbSNP |
11 | g.44107972T>C | CA380179961 | EXT2 | c.260T>C (p.Met87Thr) n.419T>C c.-544+12120T>C (n.-544+12120T>C) n.434T>C n.677T>C n.2821T>C c.359T>C (p.Met120Thr) c.398T>C (p.Met133Thr) c.299T>C (p.Met100Thr) | |
11 | g.44107972T>G | CA215090 | EXT2 | c.260T>G (p.Met87Arg) n.419T>G c.-544+12120T>G (n.-544+12120T>G) n.434T>G n.677T>G n.2821T>G c.359T>G (p.Met120Arg) c.398T>G (p.Met133Arg) c.299T>G (p.Met100Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.[44107972T>G;44107995C>T] | CA067237 | EXT2 | c.[260T>G;283C>T] (p.[Met87Arg;Arg95Cys]) n.[419T>G;442C>T] c.[-544+12120T>G;-544+12143C>T] (n.[-544+12120T>G;-544+12143C>T]) n.[434T>G;457C>T] n.[677T>G;700C>T] n.[2821T>G;2844C>T] c.[359T>G;382C>T] (p.[Met120Arg;Arg128Cys]) c.[398T>G;421C>T] (p.[Met133Arg;Arg141Cys]) c.[299T>G;322C>T] (p.[Met100Arg;Arg108Cys]) | |
11 | g.44107972T= | CA1967875648 | EXT2 | c.260T= (p.Met87=) n.419T= c.-544+12120T= (n.-544+12120T=) n.434T= n.677T= n.2821T= c.359T= (p.Met120=) c.398T= (p.Met133=) c.299T= (p.Met100=) | |
11 | g.44107973G>A | CA5954851 | EXT2 | c.261G>A (p.Met87Ile) n.420G>A c.-544+12121G>A (n.-544+12121G>A) n.435G>A n.678G>A n.2822G>A c.360G>A (p.Met120Ile) c.399G>A (p.Met133Ile) c.300G>A (p.Met100Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107973G>C | CA380179962 | EXT2 | c.261G>C (p.Met87Ile) n.420G>C c.-544+12121G>C (n.-544+12121G>C) n.435G>C n.678G>C n.2822G>C c.360G>C (p.Met120Ile) c.399G>C (p.Met133Ile) c.300G>C (p.Met100Ile) | |
11 | g.44107973G= | CA1967875654 | EXT2 | c.261G= (p.Met87=) n.420G= c.-544+12121G= (n.-544+12121G=) n.435G= n.678G= n.2822G= c.360G= (p.Met120=) c.399G= (p.Met133=) c.300G= (p.Met100=) | |
11 | g.44107973G>T | CA380179963 | EXT2 | c.261G>T (p.Met87Ile) n.420G>T c.-544+12121G>T (n.-544+12121G>T) n.435G>T n.678G>T n.2822G>T c.360G>T (p.Met120Ile) c.399G>T (p.Met133Ile) c.300G>T (p.Met100Ile) | |
11 | g.44107974C>A | CA380179964 | EXT2 | c.262C>A (p.His88Asn) n.421C>A c.-544+12122C>A (n.-544+12122C>A) n.436C>A n.679C>A n.2823C>A c.361C>A (p.His121Asn) c.400C>A (p.His134Asn) c.301C>A (p.His101Asn) | |
11 | g.44107974C>G | CA380179965 | EXT2 | c.262C>G (p.His88Asp) n.421C>G c.-544+12122C>G (n.-544+12122C>G) n.436C>G n.679C>G n.2823C>G c.361C>G (p.His121Asp) c.400C>G (p.His134Asp) c.301C>G (p.His101Asp) | |
11 | g.44107974C>T | CA380179966 | EXT2 | c.262C>T (p.His88Tyr) n.421C>T c.-544+12122C>T (n.-544+12122C>T) n.436C>T n.679C>T n.2823C>T c.361C>T (p.His121Tyr) c.400C>T (p.His134Tyr) c.301C>T (p.His101Tyr) | dbSNP gnomAD v4 |
11 | g.44107975A>C | CA380179969 | EXT2 | c.263A>C (p.His88Pro) n.422A>C c.-544+12123A>C (n.-544+12123A>C) n.437A>C n.680A>C n.2824A>C c.362A>C (p.His121Pro) c.401A>C (p.His134Pro) c.302A>C (p.His101Pro) | |
11 | g.44107975A>G | CA380179967 | EXT2 | c.263A>G (p.His88Arg) n.422A>G c.-544+12123A>G (n.-544+12123A>G) n.437A>G n.680A>G n.2824A>G c.362A>G (p.His121Arg) c.401A>G (p.His134Arg) c.302A>G (p.His101Arg) | |
11 | g.44107975A>T | CA380179968 | EXT2 | c.263A>T (p.His88Leu) n.422A>T c.-544+12123A>T (n.-544+12123A>T) n.437A>T n.680A>T n.2824A>T c.362A>T (p.His121Leu) c.401A>T (p.His134Leu) c.302A>T (p.His101Leu) | dbSNP |
11 | g.44107976C>A | CA380179970 | EXT2 | c.264C>A (p.His88Gln) n.423C>A c.-544+12124C>A (n.-544+12124C>A) n.438C>A n.681C>A n.2825C>A c.363C>A (p.His121Gln) c.402C>A (p.His134Gln) c.303C>A (p.His101Gln) | dbSNP |
11 | g.44107976C= | CA1967875662 | EXT2 | c.264C= (p.His88=) n.423C= c.-544+12124C= (n.-544+12124C=) n.438C= n.681C= n.2825C= c.363C= (p.His121=) c.402C= (p.His134=) c.303C= (p.His101=) | |
11 | g.44107976C>G | CA380179971 | EXT2 | c.264C>G (p.His88Gln) n.423C>G c.-544+12124C>G (n.-544+12124C>G) n.438C>G n.681C>G n.2825C>G c.363C>G (p.His121Gln) c.402C>G (p.His134Gln) c.303C>G (p.His101Gln) | |
11 | g.44107976C>T | CA5954852 | EXT2 | c.264C>T (p.His88=) n.423C>T c.-544+12124C>T (n.-544+12124C>T) n.438C>T n.681C>T n.2825C>T c.363C>T (p.His121=) c.402C>T (p.His134=) c.303C>T (p.His101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107977A= | CA1967875668 | EXT2 | c.265A= (p.Thr89=) n.424A= c.-544+12125A= (n.-544+12125A=) n.439A= n.682A= n.2826A= c.364A= (p.Thr122=) c.403A= (p.Thr135=) c.304A= (p.Thr102=) | |
11 | g.44107977A>C | CA380179972 | EXT2 | c.265A>C (p.Thr89Pro) n.424A>C c.-544+12125A>C (n.-544+12125A>C) n.439A>C n.682A>C n.2826A>C c.364A>C (p.Thr122Pro) c.403A>C (p.Thr135Pro) c.304A>C (p.Thr102Pro) | |
11 | g.44107977A>G | CA5954853 | EXT2 | c.265A>G (p.Thr89Ala) n.424A>G c.-544+12125A>G (n.-544+12125A>G) n.439A>G n.682A>G n.2826A>G c.364A>G (p.Thr122Ala) c.403A>G (p.Thr135Ala) c.304A>G (p.Thr102Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107977A>T | CA380179973 | EXT2 | c.265A>T (p.Thr89Ser) n.424A>T c.-544+12125A>T (n.-544+12125A>T) n.439A>T n.682A>T n.2826A>T c.364A>T (p.Thr122Ser) c.403A>T (p.Thr135Ser) c.304A>T (p.Thr102Ser) | |
11 | g.44107978C>A | CA380179974 | EXT2 | c.266C>A (p.Thr89Lys) n.425C>A c.-544+12126C>A (n.-544+12126C>A) n.440C>A n.683C>A n.2827C>A c.365C>A (p.Thr122Lys) c.404C>A (p.Thr135Lys) c.305C>A (p.Thr102Lys) | |
11 | g.44107978C= | CA1967875676 | EXT2 | c.266C= (p.Thr89=) n.425C= c.-544+12126C= (n.-544+12126C=) n.440C= n.683C= n.2827C= c.365C= (p.Thr122=) c.404C= (p.Thr135=) c.305C= (p.Thr102=) | |
11 | g.44107978C>G | CA380179975 | EXT2 | c.266C>G (p.Thr89Arg) n.425C>G c.-544+12126C>G (n.-544+12126C>G) n.440C>G n.683C>G n.2827C>G c.365C>G (p.Thr122Arg) c.404C>G (p.Thr135Arg) c.305C>G (p.Thr102Arg) | dbSNP |
11 | g.44107978C>T | CA5954854 | EXT2 | c.266C>T (p.Thr89Met) n.425C>T c.-544+12126C>T (n.-544+12126C>T) n.440C>T n.683C>T n.2827C>T c.365C>T (p.Thr122Met) c.404C>T (p.Thr135Met) c.305C>T (p.Thr102Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.44107979G>A | CA474035068 | EXT2 | c.267G>A (p.Thr89=) n.426G>A c.-544+12127G>A (n.-544+12127G>A) n.441G>A n.684G>A n.2828G>A c.366G>A (p.Thr122=) c.405G>A (p.Thr135=) c.306G>A (p.Thr102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.44107979G>C | CA474035069 | EXT2 | c.267G>C (p.Thr89=) n.426G>C c.-544+12127G>C (n.-544+12127G>C) n.441G>C n.684G>C n.2828G>C c.366G>C (p.Thr122=) c.405G>C (p.Thr135=) c.306G>C (p.Thr102=) | |
11 | g.44107979G= | CA1967875680 | EXT2 | c.267G= (p.Thr89=) n.426G= c.-544+12127G= (n.-544+12127G=) n.441G= n.684G= n.2828G= c.366G= (p.Thr122=) c.405G= (p.Thr135=) c.306G= (p.Thr102=) | |
11 | g.44107979G>T | CA474035070 | EXT2 | c.267G>T (p.Thr89=) n.426G>T c.-544+12127G>T (n.-544+12127G>T) n.441G>T n.684G>T n.2828G>T c.366G>T (p.Thr122=) c.405G>T (p.Thr135=) c.306G>T (p.Thr102=) | |
11 | g.44107980T>A | CA380179976 | EXT2 | c.268T>A (p.Cys90Ser) n.427T>A c.-544+12128T>A (n.-544+12128T>A) n.442T>A n.685T>A n.2829T>A c.367T>A (p.Cys123Ser) c.406T>A (p.Cys136Ser) c.307T>A (p.Cys103Ser) | dbSNP |
11 | g.44107980T>C | CA380179977 | EXT2 | c.268T>C (p.Cys90Arg) n.427T>C c.-544+12128T>C (n.-544+12128T>C) n.442T>C n.685T>C n.2829T>C c.367T>C (p.Cys123Arg) c.406T>C (p.Cys136Arg) c.307T>C (p.Cys103Arg) | |
11 | g.44107980T>G | CA380179978 | EXT2 | c.268T>G (p.Cys90Gly) n.427T>G c.-544+12128T>G (n.-544+12128T>G) n.442T>G n.685T>G n.2829T>G c.367T>G (p.Cys123Gly) c.406T>G (p.Cys136Gly) c.307T>G (p.Cys103Gly) | |
11 | g.44107981G>A | CA380179981 | EXT2 | c.269G>A (p.Cys90Tyr) n.428G>A c.-544+12129G>A (n.-544+12129G>A) n.443G>A n.686G>A n.2830G>A c.368G>A (p.Cys123Tyr) c.407G>A (p.Cys136Tyr) c.308G>A (p.Cys103Tyr) | dbSNP gnomAD v4 |
11 | g.44107981G>C | CA380179980 | EXT2 | c.269G>C (p.Cys90Ser) n.428G>C c.-544+12129G>C (n.-544+12129G>C) n.443G>C n.686G>C n.2830G>C c.368G>C (p.Cys123Ser) c.407G>C (p.Cys136Ser) c.308G>C (p.Cys103Ser) | dbSNP |
11 | g.44107981G= | CA1967875688 | EXT2 | c.269G= (p.Cys90=) n.428G= c.-544+12129G= (n.-544+12129G=) n.443G= n.686G= n.2830G= c.368G= (p.Cys123=) c.407G= (p.Cys136=) c.308G= (p.Cys103=) | |
11 | g.44107981G>T | CA380179979 | EXT2 | c.269G>T (p.Cys90Phe) n.428G>T c.-544+12129G>T (n.-544+12129G>T) n.443G>T n.686G>T n.2830G>T c.368G>T (p.Cys123Phe) c.407G>T (p.Cys136Phe) c.308G>T (p.Cys103Phe) | |
11 | g.44107981_44107983delinsAAA | CA2695213774 | EXT2 | c.269_271delinsAAA (p.Cys90Ter) n.428_430delinsAAA c.-544+12129_-544+12131delinsAAA (n.-544+12129_-544+12131delinsAAA) n.443_445delinsAAA n.686_688delinsAAA n.2830_2832delinsAAA c.368_370delinsAAA (p.Cys123Ter) c.407_409delinsAAA (p.Cys136Ter) c.308_310delinsAAA (p.Cys103Ter) | |
11 | g.44107982T>A | CA380179982 | EXT2 | c.270T>A (p.Cys90Ter) n.429T>A c.-544+12130T>A (n.-544+12130T>A) n.444T>A n.687T>A n.2831T>A c.369T>A (p.Cys123Ter) c.408T>A (p.Cys136Ter) c.309T>A (p.Cys103Ter) | dbSNP |
11 | g.44107982T>C | CA474035071 | EXT2 | c.270T>C (p.Cys90=) n.429T>C c.-544+12130T>C (n.-544+12130T>C) n.444T>C n.687T>C n.2831T>C c.369T>C (p.Cys123=) c.408T>C (p.Cys136=) c.309T>C (p.Cys103=) | |
11 | g.44107982T>G | CA380179983 | EXT2 | c.270T>G (p.Cys90Trp) n.429T>G c.-544+12130T>G (n.-544+12130T>G) n.444T>G n.687T>G n.2831T>G c.369T>G (p.Cys123Trp) c.408T>G (p.Cys136Trp) c.309T>G (p.Cys103Trp) | |
11 | g.44107985del | CA2527937720 | EXT2 | c.273del (p.Phe91LeufsTer21) n.432del c.-544+12133del (n.-544+12133del) n.447del n.690del n.2834del c.372del (p.Phe124LeufsTer21) c.411del (p.Phe137LeufsTer21) c.312del (p.Phe104LeufsTer21) | |
11 | g.44107983T>A | CA380179984 | EXT2 | c.271T>A (p.Phe91Ile) n.430T>A c.-544+12131T>A (n.-544+12131T>A) n.445T>A n.688T>A n.2832T>A c.370T>A (p.Phe124Ile) c.409T>A (p.Phe137Ile) c.310T>A (p.Phe104Ile) | |
11 | g.44107983T>C | CA380179985 | EXT2 | c.271T>C (p.Phe91Leu) n.430T>C c.-544+12131T>C (n.-544+12131T>C) n.445T>C n.688T>C n.2832T>C c.370T>C (p.Phe124Leu) c.409T>C (p.Phe137Leu) c.310T>C (p.Phe104Leu) | |
11 | g.44107983T>G | CA380179986 | EXT2 | c.271T>G (p.Phe91Val) n.430T>G c.-544+12131T>G (n.-544+12131T>G) n.445T>G n.688T>G n.2832T>G c.370T>G (p.Phe124Val) c.409T>G (p.Phe137Val) c.310T>G (p.Phe104Val) | |
11 | g.44107984T>A | CA380179987 | EXT2 | c.272T>A (p.Phe91Tyr) n.431T>A c.-544+12132T>A (n.-544+12132T>A) n.446T>A n.689T>A n.2833T>A c.371T>A (p.Phe124Tyr) c.410T>A (p.Phe137Tyr) c.311T>A (p.Phe104Tyr) | |
11 | g.44107984T>C | CA380179988 | EXT2 | c.272T>C (p.Phe91Ser) n.431T>C c.-544+12132T>C (n.-544+12132T>C) n.446T>C n.689T>C n.2833T>C c.371T>C (p.Phe124Ser) c.410T>C (p.Phe137Ser) c.311T>C (p.Phe104Ser) | |
11 | g.44107984T>G | CA380179989 | EXT2 | c.272T>G (p.Phe91Cys) n.431T>G c.-544+12132T>G (n.-544+12132T>G) n.446T>G n.689T>G n.2833T>G c.371T>G (p.Phe124Cys) c.410T>G (p.Phe137Cys) c.311T>G (p.Phe104Cys) | |
11 | g.44107985T>A | CA380179990 | EXT2 | c.273T>A (p.Phe91Leu) n.432T>A c.-544+12133T>A (n.-544+12133T>A) n.447T>A n.690T>A n.2834T>A c.372T>A (p.Phe124Leu) c.411T>A (p.Phe137Leu) c.312T>A (p.Phe104Leu) | |
11 | g.44107985T>C | CA474035072 | EXT2 | c.273T>C (p.Phe91=) n.432T>C c.-544+12133T>C (n.-544+12133T>C) n.447T>C n.690T>C n.2834T>C c.372T>C (p.Phe124=) c.411T>C (p.Phe137=) c.312T>C (p.Phe104=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107985T>G | CA380179991 | EXT2 | c.273T>G (p.Phe91Leu) n.432T>G c.-544+12133T>G (n.-544+12133T>G) n.447T>G n.690T>G n.2834T>G c.372T>G (p.Phe124Leu) c.411T>G (p.Phe137Leu) c.312T>G (p.Phe104Leu) | COSMIC |
11 | g.44107985T= | CA1967875695 | EXT2 | c.273T= (p.Phe91=) n.432T= c.-544+12133T= (n.-544+12133T=) n.447T= n.690T= n.2834T= c.372T= (p.Phe124=) c.411T= (p.Phe137=) c.312T= (p.Phe104=) | |
11 | g.44107986G>A | CA380179992 | EXT2 | c.274G>A (p.Asp92Asn) n.433G>A c.-544+12134G>A (n.-544+12134G>A) n.448G>A n.691G>A n.2835G>A c.373G>A (p.Asp125Asn) c.412G>A (p.Asp138Asn) c.313G>A (p.Asp105Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107986G>C | CA380179993 | EXT2 | c.274G>C (p.Asp92His) n.433G>C c.-544+12134G>C (n.-544+12134G>C) n.448G>C n.691G>C n.2835G>C c.373G>C (p.Asp125His) c.412G>C (p.Asp138His) c.313G>C (p.Asp105His) | |
11 | g.44107986G= | CA1967875699 | EXT2 | c.274G= (p.Asp92=) n.433G= c.-544+12134G= (n.-544+12134G=) n.448G= n.691G= n.2835G= c.373G= (p.Asp125=) c.412G= (p.Asp138=) c.313G= (p.Asp105=) | |
11 | g.44107986G>T | CA380179994 | EXT2 | c.274G>T (p.Asp92Tyr) n.433G>T c.-544+12134G>T (n.-544+12134G>T) n.448G>T n.691G>T n.2835G>T c.373G>T (p.Asp125Tyr) c.412G>T (p.Asp138Tyr) c.313G>T (p.Asp105Tyr) | COSMIC |
11 | g.44107987A= | CA1967875706 | EXT2 | c.275A= (p.Asp92=) n.434A= c.-544+12135A= (n.-544+12135A=) n.449A= n.692A= n.2836A= c.374A= (p.Asp125=) c.413A= (p.Asp138=) c.314A= (p.Asp105=) | |
11 | g.44107987A>C | CA380179996 | EXT2 | c.275A>C (p.Asp92Ala) n.434A>C c.-544+12135A>C (n.-544+12135A>C) n.449A>C n.692A>C n.2836A>C c.374A>C (p.Asp125Ala) c.413A>C (p.Asp138Ala) c.314A>C (p.Asp105Ala) | |
11 | g.44107987A>G | CA380179997 | EXT2 | c.275A>G (p.Asp92Gly) n.434A>G c.-544+12135A>G (n.-544+12135A>G) n.449A>G n.692A>G n.2836A>G c.374A>G (p.Asp125Gly) c.413A>G (p.Asp138Gly) c.314A>G (p.Asp105Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107987A>T | CA380179995 | EXT2 | c.275A>T (p.Asp92Val) n.434A>T c.-544+12135A>T (n.-544+12135A>T) n.449A>T n.692A>T n.2836A>T c.374A>T (p.Asp125Val) c.413A>T (p.Asp138Val) c.314A>T (p.Asp105Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107988T>A | CA380179998 | EXT2 | c.276T>A (p.Asp92Glu) n.435T>A c.-544+12136T>A (n.-544+12136T>A) n.450T>A n.693T>A n.2837T>A c.375T>A (p.Asp125Glu) c.414T>A (p.Asp138Glu) c.315T>A (p.Asp105Glu) | |
11 | g.44107988T>C | CA474035073 | EXT2 | c.276T>C (p.Asp92=) n.435T>C c.-544+12136T>C (n.-544+12136T>C) n.450T>C n.693T>C n.2837T>C c.375T>C (p.Asp125=) c.414T>C (p.Asp138=) c.315T>C (p.Asp105=) | |
11 | g.44107988T>G | CA380179999 | EXT2 | c.276T>G (p.Asp92Glu) n.435T>G c.-544+12136T>G (n.-544+12136T>G) n.450T>G n.693T>G n.2837T>G c.375T>G (p.Asp125Glu) c.414T>G (p.Asp138Glu) c.315T>G (p.Asp105Glu) | |
11 | g.44107989G>A | CA380180000 | EXT2 | c.277G>A (p.Val93Ile) n.436G>A c.-544+12137G>A (n.-544+12137G>A) n.451G>A n.694G>A n.2838G>A c.376G>A (p.Val126Ile) c.415G>A (p.Val139Ile) c.316G>A (p.Val106Ile) | |
11 | g.44107989G>C | CA380180001 | EXT2 | c.277G>C (p.Val93Leu) n.436G>C c.-544+12137G>C (n.-544+12137G>C) n.451G>C n.694G>C n.2838G>C c.376G>C (p.Val126Leu) c.415G>C (p.Val139Leu) c.316G>C (p.Val106Leu) | dbSNP |
11 | g.44107989G>T | CA380180002 | EXT2 | c.277G>T (p.Val93Phe) n.436G>T c.-544+12137G>T (n.-544+12137G>T) n.451G>T n.694G>T n.2838G>T c.376G>T (p.Val126Phe) c.415G>T (p.Val139Phe) c.316G>T (p.Val106Phe) | |
11 | g.44107990T>A | CA380180004 | EXT2 | c.278T>A (p.Val93Asp) n.437T>A c.-544+12138T>A (n.-544+12138T>A) n.452T>A n.695T>A n.2839T>A c.377T>A (p.Val126Asp) c.416T>A (p.Val139Asp) c.317T>A (p.Val106Asp) | |
11 | g.44107990T>C | CA5954855 | EXT2 | c.278T>C (p.Val93Ala) n.437T>C c.-544+12138T>C (n.-544+12138T>C) n.452T>C n.695T>C n.2839T>C c.377T>C (p.Val126Ala) c.416T>C (p.Val139Ala) c.317T>C (p.Val106Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107990T>G | CA380180003 | EXT2 | c.278T>G (p.Val93Gly) n.437T>G c.-544+12138T>G (n.-544+12138T>G) n.452T>G n.695T>G n.2839T>G c.377T>G (p.Val126Gly) c.416T>G (p.Val139Gly) c.317T>G (p.Val106Gly) | |
11 | g.44107990T= | CA1967875713 | EXT2 | c.278T= (p.Val93=) n.437T= c.-544+12138T= (n.-544+12138T=) n.452T= n.695T= n.2839T= c.377T= (p.Val126=) c.416T= (p.Val139=) c.317T= (p.Val106=) | |
11 | g.44107991C>A | CA474035074 | EXT2 | c.279C>A (p.Val93=) n.438C>A c.-544+12139C>A (n.-544+12139C>A) n.453C>A n.696C>A n.2840C>A c.378C>A (p.Val126=) c.417C>A (p.Val139=) c.318C>A (p.Val106=) | |
11 | g.44107991C>G | CA474035076 | EXT2 | c.279C>G (p.Val93=) n.438C>G c.-544+12139C>G (n.-544+12139C>G) n.453C>G n.696C>G n.2840C>G c.378C>G (p.Val126=) c.417C>G (p.Val139=) c.318C>G (p.Val106=) | |
11 | g.44107991C>T | CA474035075 | EXT2 | c.279C>T (p.Val93=) n.438C>T c.-544+12139C>T (n.-544+12139C>T) n.453C>T n.696C>T n.2840C>T c.378C>T (p.Val126=) c.417C>T (p.Val139=) c.318C>T (p.Val106=) | |
11 | g.44107992T>A | CA380180005 | EXT2 | c.280T>A (p.Tyr94Asn) n.439T>A c.-544+12140T>A (n.-544+12140T>A) n.454T>A n.697T>A n.2841T>A c.379T>A (p.Tyr127Asn) c.418T>A (p.Tyr140Asn) c.319T>A (p.Tyr107Asn) | |
11 | g.44107992T>C | CA380180006 | EXT2 | c.280T>C (p.Tyr94His) n.439T>C c.-544+12140T>C (n.-544+12140T>C) n.454T>C n.697T>C n.2841T>C c.379T>C (p.Tyr127His) c.418T>C (p.Tyr140His) c.319T>C (p.Tyr107His) | |
11 | g.44107992T>G | CA380180007 | EXT2 | c.280T>G (p.Tyr94Asp) n.439T>G c.-544+12140T>G (n.-544+12140T>G) n.454T>G n.697T>G n.2841T>G c.379T>G (p.Tyr127Asp) c.418T>G (p.Tyr140Asp) c.319T>G (p.Tyr107Asp) | |
11 | g.44107993A= | CA1967875717 | EXT2 | c.281A= (p.Tyr94=) n.440A= c.-544+12141A= (n.-544+12141A=) n.455A= n.698A= n.2842A= c.380A= (p.Tyr127=) c.419A= (p.Tyr140=) c.320A= (p.Tyr107=) | |
11 | g.44107993A>C | CA380180008 | EXT2 | c.281A>C (p.Tyr94Ser) n.440A>C c.-544+12141A>C (n.-544+12141A>C) n.455A>C n.698A>C n.2842A>C c.380A>C (p.Tyr127Ser) c.419A>C (p.Tyr140Ser) c.320A>C (p.Tyr107Ser) | |
11 | g.44107993A>G | CA380180009 | EXT2 | c.281A>G (p.Tyr94Cys) n.440A>G c.-544+12141A>G (n.-544+12141A>G) n.455A>G n.698A>G n.2842A>G c.380A>G (p.Tyr127Cys) c.419A>G (p.Tyr140Cys) c.320A>G (p.Tyr107Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.44107993A>T | CA380180010 | EXT2 | c.281A>T (p.Tyr94Phe) n.440A>T c.-544+12141A>T (n.-544+12141A>T) n.455A>T n.698A>T n.2842A>T c.380A>T (p.Tyr127Phe) c.419A>T (p.Tyr140Phe) c.320A>T (p.Tyr107Phe) | |
11 | g.44107994T>A | CA380180011 | EXT2 | c.282T>A (p.Tyr94Ter) n.441T>A c.-544+12142T>A (n.-544+12142T>A) n.456T>A n.699T>A n.2843T>A c.381T>A (p.Tyr127Ter) c.420T>A (p.Tyr140Ter) c.321T>A (p.Tyr107Ter) | ClinVar dbSNP |
11 | g.44107994T>C | CA474035077 | EXT2 | c.282T>C (p.Tyr94=) n.441T>C c.-544+12142T>C (n.-544+12142T>C) n.456T>C n.699T>C n.2843T>C c.381T>C (p.Tyr127=) c.420T>C (p.Tyr140=) c.321T>C (p.Tyr107=) | |
11 | g.44107994T>G | CA380180012 | EXT2 | c.282T>G (p.Tyr94Ter) n.441T>G c.-544+12142T>G (n.-544+12142T>G) n.456T>G n.699T>G n.2843T>G c.381T>G (p.Tyr127Ter) c.420T>G (p.Tyr140Ter) c.321T>G (p.Tyr107Ter) | |
11 | g.44107995C>A | CA380180013 | EXT2 | c.283C>A (p.Arg95Ser) n.442C>A c.-544+12143C>A (n.-544+12143C>A) n.457C>A n.700C>A n.2844C>A c.382C>A (p.Arg128Ser) c.421C>A (p.Arg141Ser) c.322C>A (p.Arg108Ser) | |
11 | g.44107995C= | CA1967875725 | EXT2 | c.283C= (p.Arg95=) n.442C= c.-544+12143C= (n.-544+12143C=) n.457C= n.700C= n.2844C= c.382C= (p.Arg128=) c.421C= (p.Arg141=) c.322C= (p.Arg108=) | |
11 | g.44107995C>G | CA380180014 | EXT2 | c.283C>G (p.Arg95Gly) n.442C>G c.-544+12143C>G (n.-544+12143C>G) n.457C>G n.700C>G n.2844C>G c.382C>G (p.Arg128Gly) c.421C>G (p.Arg141Gly) c.322C>G (p.Arg108Gly) | dbSNP |
11 | g.44107995C>T | CA067130 | EXT2 | c.283C>T (p.Arg95Cys) n.442C>T c.-544+12143C>T (n.-544+12143C>T) n.457C>T n.700C>T n.2844C>T c.382C>T (p.Arg128Cys) c.421C>T (p.Arg141Cys) c.322C>T (p.Arg108Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.44107996G>A | CA241871 | EXT2 | c.284G>A (p.Arg95His) n.443G>A c.-544+12144G>A (n.-544+12144G>A) n.458G>A n.701G>A n.2845G>A c.383G>A (p.Arg128His) c.422G>A (p.Arg141His) c.323G>A (p.Arg108His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107996G>C | CA380180016 | EXT2 | c.284G>C (p.Arg95Pro) n.443G>C c.-544+12144G>C (n.-544+12144G>C) n.458G>C n.701G>C n.2845G>C c.383G>C (p.Arg128Pro) c.422G>C (p.Arg141Pro) c.323G>C (p.Arg108Pro) | |
11 | g.44107996G= | CA1967875737 | EXT2 | c.284G= (p.Arg95=) n.443G= c.-544+12144G= (n.-544+12144G=) n.458G= n.701G= n.2845G= c.383G= (p.Arg128=) c.422G= (p.Arg141=) c.323G= (p.Arg108=) | |
11 | g.44107996G>T | CA380180015 | EXT2 | c.284G>T (p.Arg95Leu) n.443G>T c.-544+12144G>T (n.-544+12144G>T) n.458G>T n.701G>T n.2845G>T c.383G>T (p.Arg128Leu) c.422G>T (p.Arg141Leu) c.323G>T (p.Arg108Leu) | dbSNP |
11 | g.44107997C>A | CA474035080 | EXT2 | c.285C>A (p.Arg95=) n.444C>A c.-544+12145C>A (n.-544+12145C>A) n.459C>A n.702C>A n.2846C>A c.384C>A (p.Arg128=) c.423C>A (p.Arg141=) c.324C>A (p.Arg108=) | |
11 | g.44107997C>G | CA474035078 | EXT2 | c.285C>G (p.Arg95=) n.444C>G c.-544+12145C>G (n.-544+12145C>G) n.459C>G n.702C>G n.2846C>G c.384C>G (p.Arg128=) c.423C>G (p.Arg141=) c.324C>G (p.Arg108=) | |
11 | g.44107997C>T | CA474035079 | EXT2 | c.285C>T (p.Arg95=) n.444C>T c.-544+12145C>T (n.-544+12145C>T) n.459C>T n.702C>T n.2846C>T c.384C>T (p.Arg128=) c.423C>T (p.Arg141=) c.324C>T (p.Arg108=) | |
11 | g.44107998T>A | CA221453065 | EXT2 | c.286T>A (p.Cys96Ser) n.445T>A c.-544+12146T>A (n.-544+12146T>A) n.460T>A n.703T>A n.2847T>A c.385T>A (p.Cys129Ser) c.424T>A (p.Cys142Ser) c.325T>A (p.Cys109Ser) | dbSNP |
11 | g.44107998T>C | CA380180018 | EXT2 | c.286T>C (p.Cys96Arg) n.445T>C c.-544+12146T>C (n.-544+12146T>C) n.460T>C n.703T>C n.2847T>C c.385T>C (p.Cys129Arg) c.424T>C (p.Cys142Arg) c.325T>C (p.Cys109Arg) | gnomAD v4 |
11 | g.44107998T>G | CA380180017 | EXT2 | c.286T>G (p.Cys96Gly) n.445T>G c.-544+12146T>G (n.-544+12146T>G) n.460T>G n.703T>G n.2847T>G c.385T>G (p.Cys129Gly) c.424T>G (p.Cys142Gly) c.325T>G (p.Cys109Gly) | |
11 | g.44107998T= | CA1967875742 | EXT2 | c.286T= (p.Cys96=) n.445T= c.-544+12146T= (n.-544+12146T=) n.460T= n.703T= n.2847T= c.385T= (p.Cys129=) c.424T= (p.Cys142=) c.325T= (p.Cys109=) | |
11 | g.44107999G>A | CA221453070 | EXT2 | c.287G>A (p.Cys96Tyr) n.446G>A c.-544+12147G>A (n.-544+12147G>A) n.461G>A n.704G>A n.2848G>A c.386G>A (p.Cys129Tyr) c.425G>A (p.Cys142Tyr) c.326G>A (p.Cys109Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107999G>C | CA380180020 | EXT2 | c.287G>C (p.Cys96Ser) n.446G>C c.-544+12147G>C (n.-544+12147G>C) n.461G>C n.704G>C n.2848G>C c.386G>C (p.Cys129Ser) c.425G>C (p.Cys142Ser) c.326G>C (p.Cys109Ser) | |
11 | g.44107999G= | CA1967875746 | EXT2 | c.287G= (p.Cys96=) n.446G= c.-544+12147G= (n.-544+12147G=) n.461G= n.704G= n.2848G= c.386G= (p.Cys129=) c.425G= (p.Cys142=) c.326G= (p.Cys109=) | |
11 | g.44107999G>T | CA380180019 | EXT2 | c.287G>T (p.Cys96Phe) n.446G>T c.-544+12147G>T (n.-544+12147G>T) n.461G>T n.704G>T n.2848G>T c.386G>T (p.Cys129Phe) c.425G>T (p.Cys142Phe) c.326G>T (p.Cys109Phe) | |
11 | g.44108000T>A | CA380180021 | EXT2 | c.288T>A (p.Cys96Ter) n.447T>A c.-544+12148T>A (n.-544+12148T>A) n.462T>A n.705T>A n.2849T>A c.387T>A (p.Cys129Ter) c.426T>A (p.Cys142Ter) c.327T>A (p.Cys109Ter) | gnomAD v4 |
11 | g.44108000T>C | CA474035081 | EXT2 | c.288T>C (p.Cys96=) n.447T>C c.-544+12148T>C (n.-544+12148T>C) n.462T>C n.705T>C n.2849T>C c.387T>C (p.Cys129=) c.426T>C (p.Cys142=) c.327T>C (p.Cys109=) | |
11 | g.44108000T>G | CA380180022 | EXT2 | c.288T>G (p.Cys96Trp) n.447T>G c.-544+12148T>G (n.-544+12148T>G) n.462T>G n.705T>G n.2849T>G c.387T>G (p.Cys129Trp) c.426T>G (p.Cys142Trp) c.327T>G (p.Cys109Trp) | |
11 | g.44108001G>A | CA380180023 | EXT2 | c.289G>A (p.Gly97Ser) n.448G>A c.-544+12149G>A (n.-544+12149G>A) n.463G>A n.706G>A n.2850G>A c.388G>A (p.Gly130Ser) c.427G>A (p.Gly143Ser) c.328G>A (p.Gly110Ser) | |
11 | g.44108001G>C | CA380180025 | EXT2 | c.289G>C (p.Gly97Arg) n.448G>C c.-544+12149G>C (n.-544+12149G>C) n.463G>C n.706G>C n.2850G>C c.388G>C (p.Gly130Arg) c.427G>C (p.Gly143Arg) c.328G>C (p.Gly110Arg) | |
11 | g.44108001G>T | CA380180024 | EXT2 | c.289G>T (p.Gly97Cys) n.448G>T c.-544+12149G>T (n.-544+12149G>T) n.463G>T n.706G>T n.2850G>T c.388G>T (p.Gly130Cys) c.427G>T (p.Gly143Cys) c.328G>T (p.Gly110Cys) | |
11 | g.44108002G>A | CA380180026 | EXT2 | c.290G>A (p.Gly97Asp) n.449G>A c.-544+12150G>A (n.-544+12150G>A) n.464G>A n.707G>A n.2851G>A c.389G>A (p.Gly130Asp) c.428G>A (p.Gly143Asp) c.329G>A (p.Gly110Asp) | |
11 | g.44108002G>C | CA380180027 | EXT2 | c.290G>C (p.Gly97Ala) n.449G>C c.-544+12150G>C (n.-544+12150G>C) n.464G>C n.707G>C n.2851G>C c.389G>C (p.Gly130Ala) c.428G>C (p.Gly143Ala) c.329G>C (p.Gly110Ala) | |
11 | g.44108002G>T | CA380180028 | EXT2 | c.290G>T (p.Gly97Val) n.449G>T c.-544+12150G>T (n.-544+12150G>T) n.464G>T n.707G>T n.2851G>T c.389G>T (p.Gly130Val) c.428G>T (p.Gly143Val) c.329G>T (p.Gly110Val) | |
11 | g.44108003C>A | CA474035084 | EXT2 | c.291C>A (p.Gly97=) n.450C>A c.-544+12151C>A (n.-544+12151C>A) n.465C>A n.708C>A n.2852C>A c.390C>A (p.Gly130=) c.429C>A (p.Gly143=) c.330C>A (p.Gly110=) | |
11 | g.44108003C= | CA1967875752 | EXT2 | c.291C= (p.Gly97=) n.450C= c.-544+12151C= (n.-544+12151C=) n.465C= n.708C= n.2852C= c.390C= (p.Gly130=) c.429C= (p.Gly143=) c.330C= (p.Gly110=) | |
11 | g.44108003C>G | CA474035082 | EXT2 | c.291C>G (p.Gly97=) n.450C>G c.-544+12151C>G (n.-544+12151C>G) n.465C>G n.708C>G n.2852C>G c.390C>G (p.Gly130=) c.429C>G (p.Gly143=) c.330C>G (p.Gly110=) | |
11 | g.44108003C>T | CA474035083 | EXT2 | c.291C>T (p.Gly97=) n.450C>T c.-544+12151C>T (n.-544+12151C>T) n.465C>T n.708C>T n.2852C>T c.390C>T (p.Gly130=) c.429C>T (p.Gly143=) c.330C>T (p.Gly110=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44108004T>A | CA380180029 | EXT2 | c.292T>A (p.Phe98Ile) n.451T>A c.-544+12152T>A (n.-544+12152T>A) n.466T>A n.709T>A n.2853T>A c.391T>A (p.Phe131Ile) c.430T>A (p.Phe144Ile) c.331T>A (p.Phe111Ile) | |
11 | g.44108004T>C | CA380180030 | EXT2 | c.292T>C (p.Phe98Leu) n.451T>C c.-544+12152T>C (n.-544+12152T>C) n.466T>C n.709T>C n.2853T>C c.391T>C (p.Phe131Leu) c.430T>C (p.Phe144Leu) c.331T>C (p.Phe111Leu) | ClinVar |
11 | g.44108004T>G | CA380180031 | EXT2 | c.292T>G (p.Phe98Val) n.451T>G c.-544+12152T>G (n.-544+12152T>G) n.466T>G n.709T>G n.2853T>G c.391T>G (p.Phe131Val) c.430T>G (p.Phe144Val) c.331T>G (p.Phe111Val) | |
11 | g.44108005T>A | CA380180034 | EXT2 | c.293T>A (p.Phe98Tyr) n.452T>A c.-544+12153T>A (n.-544+12153T>A) n.467T>A n.710T>A n.2854T>A c.392T>A (p.Phe131Tyr) c.431T>A (p.Phe144Tyr) c.332T>A (p.Phe111Tyr) | |
11 | g.44108005T>C | CA380180032 | EXT2 | c.293T>C (p.Phe98Ser) n.452T>C c.-544+12153T>C (n.-544+12153T>C) n.467T>C n.710T>C n.2854T>C c.392T>C (p.Phe131Ser) c.431T>C (p.Phe144Ser) c.332T>C (p.Phe111Ser) | |
11 | g.44108005T>G | CA380180033 | EXT2 | c.293T>G (p.Phe98Cys) n.452T>G c.-544+12153T>G (n.-544+12153T>G) n.467T>G n.710T>G n.2854T>G c.392T>G (p.Phe131Cys) c.431T>G (p.Phe144Cys) c.332T>G (p.Phe111Cys) | |
11 | g.44108006C>A | CA380180035 | EXT2 | c.294C>A (p.Phe98Leu) n.453C>A c.-544+12154C>A (n.-544+12154C>A) n.468C>A n.711C>A n.2855C>A c.393C>A (p.Phe131Leu) c.432C>A (p.Phe144Leu) c.333C>A (p.Phe111Leu) | |
11 | g.44108006C>G | CA380180036 | EXT2 | c.294C>G (p.Phe98Leu) n.453C>G c.-544+12154C>G (n.-544+12154C>G) n.468C>G n.711C>G n.2855C>G c.393C>G (p.Phe131Leu) c.432C>G (p.Phe144Leu) c.333C>G (p.Phe111Leu) | |
11 | g.44108006C>T | CA474035085 | EXT2 | c.294C>T (p.Phe98=) n.453C>T c.-544+12154C>T (n.-544+12154C>T) n.468C>T n.711C>T n.2855C>T c.393C>T (p.Phe131=) c.432C>T (p.Phe144=) c.333C>T (p.Phe111=) | gnomAD v4 |
11 | g.44108007A>C | CA380180037 | EXT2 | c.295A>C (p.Asn99His) n.454A>C c.-544+12155A>C (n.-544+12155A>C) n.469A>C n.712A>C n.2856A>C c.394A>C (p.Asn132His) c.433A>C (p.Asn145His) c.334A>C (p.Asn112His) | |
11 | g.44108007A>G | CA380180038 | EXT2 | c.295A>G (p.Asn99Asp) n.454A>G c.-544+12155A>G (n.-544+12155A>G) n.469A>G n.712A>G n.2856A>G c.394A>G (p.Asn132Asp) c.433A>G (p.Asn145Asp) c.334A>G (p.Asn112Asp) | |
11 | g.44108007A>T | CA380180039 | EXT2 | c.295A>T (p.Asn99Tyr) n.454A>T c.-544+12155A>T (n.-544+12155A>T) n.469A>T n.712A>T n.2856A>T c.394A>T (p.Asn132Tyr) c.433A>T (p.Asn145Tyr) c.334A>T (p.Asn112Tyr) | |
11 | g.44108008A= | CA1967875757 | EXT2 | c.296A= (p.Asn99=) n.455A= c.-544+12156A= (n.-544+12156A=) n.470A= n.713A= n.2857A= c.395A= (p.Asn132=) c.434A= (p.Asn145=) c.335A= (p.Asn112=) | |
11 | g.44108008A>C | CA380180040 | EXT2 | c.296A>C (p.Asn99Thr) n.455A>C c.-544+12156A>C (n.-544+12156A>C) n.470A>C n.713A>C n.2857A>C c.395A>C (p.Asn132Thr) c.434A>C (p.Asn145Thr) c.335A>C (p.Asn112Thr) | |
11 | g.44108008A>G | CA380180041 | EXT2 | c.296A>G (p.Asn99Ser) n.455A>G c.-544+12156A>G (n.-544+12156A>G) n.470A>G n.713A>G n.2857A>G c.395A>G (p.Asn132Ser) c.434A>G (p.Asn145Ser) c.335A>G (p.Asn112Ser) | gnomAD v4 |
11 | g.44108008A>T | CA5954856 | EXT2 | c.296A>T (p.Asn99Ile) n.455A>T c.-544+12156A>T (n.-544+12156A>T) n.470A>T n.713A>T n.2857A>T c.395A>T (p.Asn132Ile) c.434A>T (p.Asn145Ile) c.335A>T (p.Asn112Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44108009C>A | CA380180042 | EXT2 | c.297C>A (p.Asn99Lys) n.456C>A c.-544+12157C>A (n.-544+12157C>A) n.471C>A n.714C>A n.2858C>A c.396C>A (p.Asn132Lys) c.435C>A (p.Asn145Lys) c.336C>A (p.Asn112Lys) | dbSNP |
11 | g.44108009C>G | CA380180043 | EXT2 | c.297C>G (p.Asn99Lys) n.456C>G c.-544+12157C>G (n.-544+12157C>G) n.471C>G n.714C>G n.2858C>G c.396C>G (p.Asn132Lys) c.435C>G (p.Asn145Lys) c.336C>G (p.Asn112Lys) | |
11 | g.44108009C>T | CA474035086 | EXT2 | c.297C>T (p.Asn99=) n.456C>T c.-544+12157C>T (n.-544+12157C>T) n.471C>T n.714C>T n.2858C>T c.396C>T (p.Asn132=) c.435C>T (p.Asn145=) c.336C>T (p.Asn112=) | dbSNP |
11 | g.44108010C>A | CA380180044 | EXT2 | c.298C>A (p.Pro100Thr) n.457C>A c.-544+12158C>A (n.-544+12158C>A) n.472C>A n.715C>A n.2859C>A c.397C>A (p.Pro133Thr) c.436C>A (p.Pro146Thr) c.337C>A (p.Pro113Thr) | dbSNP |
11 | g.44108010C>G | CA380180045 | EXT2 | c.298C>G (p.Pro100Ala) n.457C>G c.-544+12158C>G (n.-544+12158C>G) n.472C>G n.715C>G n.2859C>G c.397C>G (p.Pro133Ala) c.436C>G (p.Pro146Ala) c.337C>G (p.Pro113Ala) | gnomAD v4 |
11 | g.44108010C>T | CA380180046 | EXT2 | c.298C>T (p.Pro100Ser) n.457C>T c.-544+12158C>T (n.-544+12158C>T) n.472C>T n.715C>T n.2859C>T c.397C>T (p.Pro133Ser) c.436C>T (p.Pro146Ser) c.337C>T (p.Pro113Ser) | |
11 | g.44108011C>A | CA380180047 | EXT2 | c.299C>A (p.Pro100Gln) n.458C>A c.-544+12159C>A (n.-544+12159C>A) n.473C>A n.716C>A n.2860C>A c.398C>A (p.Pro133Gln) c.437C>A (p.Pro146Gln) c.338C>A (p.Pro113Gln) | |
11 | g.44108011C>G | CA380180048 | EXT2 | c.299C>G (p.Pro100Arg) n.458C>G c.-544+12159C>G (n.-544+12159C>G) n.473C>G n.716C>G n.2860C>G c.398C>G (p.Pro133Arg) c.437C>G (p.Pro146Arg) c.338C>G (p.Pro113Arg) | |
11 | g.44108011C>T | CA380180049 | EXT2 | c.299C>T (p.Pro100Leu) n.458C>T c.-544+12159C>T (n.-544+12159C>T) n.473C>T n.716C>T n.2860C>T c.398C>T (p.Pro133Leu) c.437C>T (p.Pro146Leu) c.338C>T (p.Pro113Leu) | dbSNP |
11 | g.44108012A= | CA1967875764 | EXT2 | c.300A= (p.Pro100=) n.459A= c.-544+12160A= (n.-544+12160A=) n.474A= n.717A= n.2861A= c.399A= (p.Pro133=) c.438A= (p.Pro146=) c.339A= (p.Pro113=) | |
11 | g.44108012A>C | CA474035134 | EXT2 | c.300A>C (p.Pro100=) n.459A>C c.-544+12160A>C (n.-544+12160A>C) n.474A>C n.717A>C n.2861A>C c.399A>C (p.Pro133=) c.438A>C (p.Pro146=) c.339A>C (p.Pro113=) | |
11 | g.44108012A>G | CA474035135 | EXT2 | c.300A>G (p.Pro100=) n.459A>G c.-544+12160A>G (n.-544+12160A>G) n.474A>G n.717A>G n.2861A>G c.399A>G (p.Pro133=) c.438A>G (p.Pro146=) c.339A>G (p.Pro113=) | dbSNP |
11 | g.44108012A>T | CA474035136 | EXT2 | c.300A>T (p.Pro100=) n.459A>T c.-544+12160A>T (n.-544+12160A>T) n.474A>T n.717A>T n.2861A>T c.399A>T (p.Pro133=) c.438A>T (p.Pro146=) c.339A>T (p.Pro113=) |