Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48756298C>A | CA392343062 | CEP152 | c.2950G>T (p.Asp984Tyr) c.2671G>T (p.Asp891Tyr) c.991G>T (p.Asp331Tyr) c.985G>T (p.Asp329Tyr) n.3915G>T n.3901G>T | |
15 | g.48756298C>G | CA392343063 | CEP152 | c.2950G>C (p.Asp984His) c.2671G>C (p.Asp891His) c.991G>C (p.Asp331His) c.985G>C (p.Asp329His) n.3915G>C n.3901G>C | ClinVar |
15 | g.48756298C>T | CA392343064 | CEP152 | c.2950G>A (p.Asp984Asn) c.2671G>A (p.Asp891Asn) c.991G>A (p.Asp331Asn) c.985G>A (p.Asp329Asn) n.3915G>A n.3901G>A | |
15 | g.48756299T>A | CA392343065 | CEP152 | c.2949A>T (p.Leu983Phe) c.2670A>T (p.Leu890Phe) c.990A>T (p.Leu330Phe) c.984A>T (p.Leu328Phe) n.3914A>T n.3900A>T | |
15 | g.48756299T>C | CA490311310 | CEP152 | c.2949A>G (p.Leu983=) c.2670A>G (p.Leu890=) c.990A>G (p.Leu330=) c.984A>G (p.Leu328=) n.3914A>G n.3900A>G | |
15 | g.48756299T>G | CA392343066 | CEP152 | c.2949A>C (p.Leu983Phe) c.2670A>C (p.Leu890Phe) c.990A>C (p.Leu330Phe) c.984A>C (p.Leu328Phe) n.3914A>C n.3900A>C | |
15 | g.48756300A= | CA2175629028 | CEP152 | c.2948T= (p.Leu983=) c.2669T= (p.Leu890=) c.989T= (p.Leu330=) c.983T= (p.Leu328=) n.3913T= n.3899T= | |
15 | g.48756300A>C | CA392343067 | CEP152 | c.2948T>G (p.Leu983Ter) c.2669T>G (p.Leu890Ter) c.989T>G (p.Leu330Ter) c.983T>G (p.Leu328Ter) n.3913T>G n.3899T>G | |
15 | g.48756300A>G | CA392343068 | CEP152 | c.2948T>C (p.Leu983Ser) c.2669T>C (p.Leu890Ser) c.989T>C (p.Leu330Ser) c.983T>C (p.Leu328Ser) n.3913T>C n.3899T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756300A>T | CA392343069 | CEP152 | c.2948T>A (p.Leu983Ter) c.2669T>A (p.Leu890Ter) c.989T>A (p.Leu330Ter) c.983T>A (p.Leu328Ter) n.3913T>A n.3899T>A | |
15 | g.48756301A>C | CA392343070 | CEP152 | c.2947T>G (p.Leu983Val) c.2668T>G (p.Leu890Val) c.988T>G (p.Leu330Val) c.982T>G (p.Leu328Val) n.3912T>G n.3898T>G | |
15 | g.48756301A>G | CA490311311 | CEP152 | c.2947T>C (p.Leu983=) c.2668T>C (p.Leu890=) c.988T>C (p.Leu330=) c.982T>C (p.Leu328=) n.3912T>C n.3898T>C | |
15 | g.48756301A>T | CA392343071 | CEP152 | c.2947T>A (p.Leu983Ile) c.2668T>A (p.Leu890Ile) c.988T>A (p.Leu330Ile) c.982T>A (p.Leu328Ile) n.3912T>A n.3898T>A | |
15 | g.48756302A>C | CA392343072 | CEP152 | c.2946T>G (p.Phe982Leu) c.2667T>G (p.Phe889Leu) c.987T>G (p.Phe329Leu) c.981T>G (p.Phe327Leu) n.3911T>G n.3897T>G | |
15 | g.48756302A>G | CA490311312 | CEP152 | c.2946T>C (p.Phe982=) c.2667T>C (p.Phe889=) c.987T>C (p.Phe329=) c.981T>C (p.Phe327=) n.3911T>C n.3897T>C | |
15 | g.48756302A>T | CA392343073 | CEP152 | c.2946T>A (p.Phe982Leu) c.2667T>A (p.Phe889Leu) c.987T>A (p.Phe329Leu) c.981T>A (p.Phe327Leu) n.3911T>A n.3897T>A | |
15 | g.48756303A= | CA2175629031 | CEP152 | c.2945T= (p.Phe982=) c.2666T= (p.Phe889=) c.986T= (p.Phe329=) c.980T= (p.Phe327=) n.3910T= n.3896T= | |
15 | g.48756303A>C | CA392343076 | CEP152 | c.2945T>G (p.Phe982Cys) c.2666T>G (p.Phe889Cys) c.986T>G (p.Phe329Cys) c.980T>G (p.Phe327Cys) n.3910T>G n.3896T>G | |
15 | g.48756303A>G | CA392343075 | CEP152 | c.2945T>C (p.Phe982Ser) c.2666T>C (p.Phe889Ser) c.986T>C (p.Phe329Ser) c.980T>C (p.Phe327Ser) n.3910T>C n.3896T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756303A>T | CA392343074 | CEP152 | c.2945T>A (p.Phe982Tyr) c.2666T>A (p.Phe889Tyr) c.986T>A (p.Phe329Tyr) c.980T>A (p.Phe327Tyr) n.3910T>A n.3896T>A | |
15 | g.48756304A>C | CA392343079 | CEP152 | c.2944T>G (p.Phe982Val) c.2665T>G (p.Phe889Val) c.985T>G (p.Phe329Val) c.979T>G (p.Phe327Val) n.3909T>G n.3895T>G | |
15 | g.48756304A>G | CA392343077 | CEP152 | c.2944T>C (p.Phe982Leu) c.2665T>C (p.Phe889Leu) c.985T>C (p.Phe329Leu) c.979T>C (p.Phe327Leu) n.3909T>C n.3895T>C | |
15 | g.48756304A>T | CA392343078 | CEP152 | c.2944T>A (p.Phe982Ile) c.2665T>A (p.Phe889Ile) c.985T>A (p.Phe329Ile) c.979T>A (p.Phe327Ile) n.3909T>A n.3895T>A | |
15 | g.48756305T>A | CA392343080 | CEP152 | c.2943A>T (p.Gln981His) c.2664A>T (p.Gln888His) c.984A>T (p.Gln328His) c.978A>T (p.Gln326His) n.3908A>T n.3894A>T | |
15 | g.48756305T>C | CA490311313 | CEP152 | c.2943A>G (p.Gln981=) c.2664A>G (p.Gln888=) c.984A>G (p.Gln328=) c.978A>G (p.Gln326=) n.3908A>G n.3894A>G | gnomAD v4 |
15 | g.48756305T>G | CA392343081 | CEP152 | c.2943A>C (p.Gln981His) c.2664A>C (p.Gln888His) c.984A>C (p.Gln328His) c.978A>C (p.Gln326His) n.3908A>C n.3894A>C | |
15 | g.48756306T>A | CA392343082 | CEP152 | c.2942A>T (p.Gln981Leu) c.2663A>T (p.Gln888Leu) c.983A>T (p.Gln328Leu) c.977A>T (p.Gln326Leu) n.3907A>T n.3893A>T | |
15 | g.48756306T>C | CA392343083 | CEP152 | c.2942A>G (p.Gln981Arg) c.2663A>G (p.Gln888Arg) c.983A>G (p.Gln328Arg) c.977A>G (p.Gln326Arg) n.3907A>G n.3893A>G | gnomAD v4 |
15 | g.48756306T>G | CA392343084 | CEP152 | c.2942A>C (p.Gln981Pro) c.2663A>C (p.Gln888Pro) c.983A>C (p.Gln328Pro) c.977A>C (p.Gln326Pro) n.3907A>C n.3893A>C | |
15 | g.48756307G>A | CA392343085 | CEP152 | c.2941C>T (p.Gln981Ter) c.2662C>T (p.Gln888Ter) c.982C>T (p.Gln328Ter) c.976C>T (p.Gln326Ter) n.3906C>T n.3892C>T | gnomAD v4 |
15 | g.48756307G>C | CA392343086 | CEP152 | c.2941C>G (p.Gln981Glu) c.2662C>G (p.Gln888Glu) c.982C>G (p.Gln328Glu) c.976C>G (p.Gln326Glu) n.3906C>G n.3892C>G | |
15 | g.48756307G>T | CA392343087 | CEP152 | c.2941C>A (p.Gln981Lys) c.2662C>A (p.Gln888Lys) c.982C>A (p.Gln328Lys) c.976C>A (p.Gln326Lys) n.3906C>A n.3892C>A | |
15 | g.48756308C>A | CA490311314 | CEP152 | c.2940G>T (p.Arg980=) c.2661G>T (p.Arg887=) c.981G>T (p.Arg327=) c.975G>T (p.Arg325=) n.3905G>T n.3891G>T | ClinVar |
15 | g.48756308C= | CA2175629036 | CEP152 | c.2940G= (p.Arg980=) c.2661G= (p.Arg887=) c.981G= (p.Arg327=) c.975G= (p.Arg325=) n.3905G= n.3891G= | |
15 | g.48756308C>G | CA490311315 | CEP152 | c.2940G>C (p.Arg980=) c.2661G>C (p.Arg887=) c.981G>C (p.Arg327=) c.975G>C (p.Arg325=) n.3905G>C n.3891G>C | |
15 | g.48756308C>T | CA490311316 | CEP152 | c.2940G>A (p.Arg980=) c.2661G>A (p.Arg887=) c.981G>A (p.Arg327=) c.975G>A (p.Arg325=) n.3905G>A n.3891G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756309C>A | CA392343088 | CEP152 | c.2939G>T (p.Arg980Leu) c.2660G>T (p.Arg887Leu) c.980G>T (p.Arg327Leu) c.974G>T (p.Arg325Leu) n.3904G>T n.3890G>T | |
15 | g.48756309C= | CA2175629038 | CEP152 | c.2939G= (p.Arg980=) c.2660G= (p.Arg887=) c.980G= (p.Arg327=) c.974G= (p.Arg325=) n.3904G= n.3890G= | |
15 | g.48756309C>G | CA392343089 | CEP152 | c.2939G>C (p.Arg980Pro) c.2660G>C (p.Arg887Pro) c.980G>C (p.Arg327Pro) c.974G>C (p.Arg325Pro) n.3904G>C n.3890G>C | |
15 | g.48756309C>T | CA269537959 | CEP152 | c.2939G>A (p.Arg980Gln) c.2660G>A (p.Arg887Gln) c.980G>A (p.Arg327Gln) c.974G>A (p.Arg325Gln) n.3904G>A n.3890G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756310G>A | CA7548441 | CEP152 | c.2938C>T (p.Arg980Trp) c.2659C>T (p.Arg887Trp) c.979C>T (p.Arg327Trp) c.973C>T (p.Arg325Trp) n.3903C>T n.3889C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756310G>C | CA392343090 | CEP152 | c.2938C>G (p.Arg980Gly) c.2659C>G (p.Arg887Gly) c.979C>G (p.Arg327Gly) c.973C>G (p.Arg325Gly) n.3903C>G n.3889C>G | |
15 | g.48756310G= | CA2175629041 | CEP152 | c.2938C= (p.Arg980=) c.2659C= (p.Arg887=) c.979C= (p.Arg327=) c.973C= (p.Arg325=) n.3903C= n.3889C= | |
15 | g.48756310G>T | CA490311317 | CEP152 | c.2938C>A (p.Arg980=) c.2659C>A (p.Arg887=) c.979C>A (p.Arg327=) c.973C>A (p.Arg325=) n.3903C>A n.3889C>A | |
15 | g.48756311del | CA490311318 | CEP152 | c.2938del (p.Arg980GlyfsTer4) c.2659del (p.Arg887GlyfsTer4) c.979del (p.Arg327GlyfsTer4) c.973del (p.Arg325GlyfsTer4) n.3903del n.3889del | |
15 | g.48756311G>A | CA490311319 | CEP152 | c.2937C>T (p.Tyr979=) c.2658C>T (p.Tyr886=) c.978C>T (p.Tyr326=) c.972C>T (p.Tyr324=) n.3902C>T n.3888C>T | ClinVar gnomAD v4 |
15 | g.48756311G>C | CA392343091 | CEP152 | c.2937C>G (p.Tyr979Ter) c.2658C>G (p.Tyr886Ter) c.978C>G (p.Tyr326Ter) c.972C>G (p.Tyr324Ter) n.3902C>G n.3888C>G | |
15 | g.48756311G>T | CA392343092 | CEP152 | c.2937C>A (p.Tyr979Ter) c.2658C>A (p.Tyr886Ter) c.978C>A (p.Tyr326Ter) c.972C>A (p.Tyr324Ter) n.3902C>A n.3888C>A | |
15 | g.48756312T>A | CA392343093 | CEP152 | c.2936A>T (p.Tyr979Phe) c.2657A>T (p.Tyr886Phe) c.977A>T (p.Tyr326Phe) c.971A>T (p.Tyr324Phe) n.3901A>T n.3887A>T | |
15 | g.48756312T>C | CA392343094 | CEP152 | c.2936A>G (p.Tyr979Cys) c.2657A>G (p.Tyr886Cys) c.977A>G (p.Tyr326Cys) c.971A>G (p.Tyr324Cys) n.3901A>G n.3887A>G | |
15 | g.48756312T>G | CA392343095 | CEP152 | c.2936A>C (p.Tyr979Ser) c.2657A>C (p.Tyr886Ser) c.977A>C (p.Tyr326Ser) c.971A>C (p.Tyr324Ser) n.3901A>C n.3887A>C | |
15 | g.48756313A>C | CA392343096 | CEP152 | c.2935T>G (p.Tyr979Asp) c.2656T>G (p.Tyr886Asp) c.976T>G (p.Tyr326Asp) c.970T>G (p.Tyr324Asp) n.3900T>G n.3886T>G | |
15 | g.48756313A>G | CA392343097 | CEP152 | c.2935T>C (p.Tyr979His) c.2656T>C (p.Tyr886His) c.976T>C (p.Tyr326His) c.970T>C (p.Tyr324His) n.3900T>C n.3886T>C | |
15 | g.48756313A>T | CA392343098 | CEP152 | c.2935T>A (p.Tyr979Asn) c.2656T>A (p.Tyr886Asn) c.976T>A (p.Tyr326Asn) c.970T>A (p.Tyr324Asn) n.3900T>A n.3886T>A | gnomAD v4 |
15 | g.48756314A>C | CA392343099 | CEP152 | c.2934T>G (p.Asp978Glu) c.2655T>G (p.Asp885Glu) c.975T>G (p.Asp325Glu) c.969T>G (p.Asp323Glu) n.3899T>G n.3885T>G | |
15 | g.48756314A>G | CA490311320 | CEP152 | c.2934T>C (p.Asp978=) c.2655T>C (p.Asp885=) c.975T>C (p.Asp325=) c.969T>C (p.Asp323=) n.3899T>C n.3885T>C | gnomAD v4 |
15 | g.48756314A>T | CA392343100 | CEP152 | c.2934T>A (p.Asp978Glu) c.2655T>A (p.Asp885Glu) c.975T>A (p.Asp325Glu) c.969T>A (p.Asp323Glu) n.3899T>A n.3885T>A | |
15 | g.48756315T>A | CA392343101 | CEP152 | c.2933A>T (p.Asp978Val) c.2654A>T (p.Asp885Val) c.974A>T (p.Asp325Val) c.968A>T (p.Asp323Val) n.3898A>T n.3884A>T | dbSNP |
15 | g.48756315T>C | CA7548442 | CEP152 | c.2933A>G (p.Asp978Gly) c.2654A>G (p.Asp885Gly) c.974A>G (p.Asp325Gly) c.968A>G (p.Asp323Gly) n.3898A>G n.3884A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756315T>G | CA392343102 | CEP152 | c.2933A>C (p.Asp978Ala) c.2654A>C (p.Asp885Ala) c.974A>C (p.Asp325Ala) c.968A>C (p.Asp323Ala) n.3898A>C n.3884A>C | |
15 | g.48756315T= | CA2175629046 | CEP152 | c.2933A= (p.Asp978=) c.2654A= (p.Asp885=) c.974A= (p.Asp325=) c.968A= (p.Asp323=) n.3898A= n.3884A= | |
15 | g.48756316C>A | CA392343103 | CEP152 | c.2932G>T (p.Asp978Tyr) c.2653G>T (p.Asp885Tyr) c.973G>T (p.Asp325Tyr) c.967G>T (p.Asp323Tyr) n.3897G>T n.3883G>T | |
15 | g.48756316C= | CA2175629048 | CEP152 | c.2932G= (p.Asp978=) c.2653G= (p.Asp885=) c.973G= (p.Asp325=) c.967G= (p.Asp323=) n.3897G= n.3883G= | |
15 | g.48756316C>G | CA392343104 | CEP152 | c.2932G>C (p.Asp978His) c.2653G>C (p.Asp885His) c.973G>C (p.Asp325His) c.967G>C (p.Asp323His) n.3897G>C n.3883G>C | |
15 | g.48756316C>T | CA269537979 | CEP152 | c.2932G>A (p.Asp978Asn) c.2653G>A (p.Asp885Asn) c.973G>A (p.Asp325Asn) c.967G>A (p.Asp323Asn) n.3897G>A n.3883G>A | dbSNP |
15 | g.48756317T>A | CA392343105 | CEP152 | c.2931A>T (p.Gln977His) c.2652A>T (p.Gln884His) c.972A>T (p.Gln324His) c.966A>T (p.Gln322His) n.3896A>T n.3882A>T | dbSNP gnomAD v2 |
15 | g.48756317T>C | CA490311321 | CEP152 | c.2931A>G (p.Gln977=) c.2652A>G (p.Gln884=) c.972A>G (p.Gln324=) c.966A>G (p.Gln322=) n.3896A>G n.3882A>G | |
15 | g.48756317T>G | CA392343106 | CEP152 | c.2931A>C (p.Gln977His) c.2652A>C (p.Gln884His) c.972A>C (p.Gln324His) c.966A>C (p.Gln322His) n.3896A>C n.3882A>C | |
15 | g.48756317T= | CA2175629053 | CEP152 | c.2931A= (p.Gln977=) c.2652A= (p.Gln884=) c.972A= (p.Gln324=) c.966A= (p.Gln322=) n.3896A= n.3882A= | |
15 | g.48756318T>A | CA392343107 | CEP152 | c.2930A>T (p.Gln977Leu) c.2651A>T (p.Gln884Leu) c.971A>T (p.Gln324Leu) c.965A>T (p.Gln322Leu) n.3895A>T n.3881A>T | |
15 | g.48756318T>C | CA392343108 | CEP152 | c.2930A>G (p.Gln977Arg) c.2651A>G (p.Gln884Arg) c.971A>G (p.Gln324Arg) c.965A>G (p.Gln322Arg) n.3895A>G n.3881A>G | |
15 | g.48756318T>G | CA392343109 | CEP152 | c.2930A>C (p.Gln977Pro) c.2651A>C (p.Gln884Pro) c.971A>C (p.Gln324Pro) c.965A>C (p.Gln322Pro) n.3895A>C n.3881A>C | |
15 | g.48756318_48756319delinsTG | CA2175629058 | CEP152 | c.2929_2930delinsCA (p.Gln977=) c.2650_2651delinsCA (p.Gln884=) c.970_971delinsCA (p.Gln324=) c.964_965delinsCA (p.Gln322=) n.3894_3895delinsCA n.3880_3881delinsCA | |
15 | g.48756319del | CA7548443 | CEP152 | c.2929del (p.Gln977LysfsTer7) c.2650del (p.Gln884LysfsTer7) c.970del (p.Gln324LysfsTer7) c.964del (p.Gln322LysfsTer7) n.3894del n.3880del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756319G>A | CA392343110 | CEP152 | c.2929C>T (p.Gln977Ter) c.2650C>T (p.Gln884Ter) c.970C>T (p.Gln324Ter) c.964C>T (p.Gln322Ter) n.3894C>T n.3880C>T | |
15 | g.48756319G>C | CA269537980 | CEP152 | c.2929C>G (p.Gln977Glu) c.2650C>G (p.Gln884Glu) c.970C>G (p.Gln324Glu) c.964C>G (p.Gln322Glu) n.3894C>G n.3880C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756319G= | CA2175629061 | CEP152 | c.2929C= (p.Gln977=) c.2650C= (p.Gln884=) c.970C= (p.Gln324=) c.964C= (p.Gln322=) n.3894C= n.3880C= | |
15 | g.48756319G>T | CA392343111 | CEP152 | c.2929C>A (p.Gln977Lys) c.2650C>A (p.Gln884Lys) c.970C>A (p.Gln324Lys) c.964C>A (p.Gln322Lys) n.3894C>A n.3880C>A | |
15 | g.48756320C>A | CA392343112 | CEP152 | c.2928G>T (p.Glu976Asp) c.2649G>T (p.Glu883Asp) c.969G>T (p.Glu323Asp) c.963G>T (p.Glu321Asp) n.3893G>T n.3879G>T | dbSNP |
15 | g.48756320C= | CA2175629066 | CEP152 | c.2928G= (p.Glu976=) c.2649G= (p.Glu883=) c.969G= (p.Glu323=) c.963G= (p.Glu321=) n.3893G= n.3879G= | |
15 | g.48756320C>G | CA392343113 | CEP152 | c.2928G>C (p.Glu976Asp) c.2649G>C (p.Glu883Asp) c.969G>C (p.Glu323Asp) c.963G>C (p.Glu321Asp) n.3893G>C n.3879G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756320C>T | CA7548444 | CEP152 | c.2928G>A (p.Glu976=) c.2649G>A (p.Glu883=) c.969G>A (p.Glu323=) c.963G>A (p.Glu321=) n.3893G>A n.3879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756321T>A | CA392343114 | CEP152 | c.2927A>T (p.Glu976Val) c.2648A>T (p.Glu883Val) c.968A>T (p.Glu323Val) c.962A>T (p.Glu321Val) n.3892A>T n.3878A>T | gnomAD v4 |
15 | g.48756321T>C | CA392343115 | CEP152 | c.2927A>G (p.Glu976Gly) c.2648A>G (p.Glu883Gly) c.968A>G (p.Glu323Gly) c.962A>G (p.Glu321Gly) n.3892A>G n.3878A>G | |
15 | g.48756321T>G | CA392343116 | CEP152 | c.2927A>C (p.Glu976Ala) c.2648A>C (p.Glu883Ala) c.968A>C (p.Glu323Ala) c.962A>C (p.Glu321Ala) n.3892A>C n.3878A>C | |
15 | g.48756322C>A | CA392343117 | CEP152 | c.2926G>T (p.Glu976Ter) c.2647G>T (p.Glu883Ter) c.967G>T (p.Glu323Ter) c.961G>T (p.Glu321Ter) n.3891G>T n.3877G>T | |
15 | g.48756322C>G | CA392343119 | CEP152 | c.2926G>C (p.Glu976Gln) c.2647G>C (p.Glu883Gln) c.967G>C (p.Glu323Gln) c.961G>C (p.Glu321Gln) n.3891G>C n.3877G>C | |
15 | g.48756322C>T | CA392343118 | CEP152 | c.2926G>A (p.Glu976Lys) c.2647G>A (p.Glu883Lys) c.967G>A (p.Glu323Lys) c.961G>A (p.Glu321Lys) n.3891G>A n.3877G>A | |
15 | g.48756323A= | CA2175629070 | CEP152 | c.2925T= (p.Asn975=) c.2646T= (p.Asn882=) c.966T= (p.Asn322=) c.960T= (p.Asn320=) n.3890T= n.3876T= | |
15 | g.48756323A>C | CA269537984 | CEP152 | c.2925T>G (p.Asn975Lys) c.2646T>G (p.Asn882Lys) c.966T>G (p.Asn322Lys) c.960T>G (p.Asn320Lys) n.3890T>G n.3876T>G | dbSNP gnomAD v4 |
15 | g.48756323A>G | CA490311322 | CEP152 | c.2925T>C (p.Asn975=) c.2646T>C (p.Asn882=) c.966T>C (p.Asn322=) c.960T>C (p.Asn320=) n.3890T>C n.3876T>C | |
15 | g.48756323A>T | CA392343120 | CEP152 | c.2925T>A (p.Asn975Lys) c.2646T>A (p.Asn882Lys) c.966T>A (p.Asn322Lys) c.960T>A (p.Asn320Lys) n.3890T>A n.3876T>A | |
15 | g.48756324T>A | CA392343121 | CEP152 | c.2924A>T (p.Asn975Ile) c.2645A>T (p.Asn882Ile) c.965A>T (p.Asn322Ile) c.959A>T (p.Asn320Ile) n.3889A>T n.3875A>T | |
15 | g.48756324T>C | CA392343122 | CEP152 | c.2924A>G (p.Asn975Ser) c.2645A>G (p.Asn882Ser) c.965A>G (p.Asn322Ser) c.959A>G (p.Asn320Ser) n.3889A>G n.3875A>G | |
15 | g.48756324T>G | CA392343123 | CEP152 | c.2924A>C (p.Asn975Thr) c.2645A>C (p.Asn882Thr) c.965A>C (p.Asn322Thr) c.959A>C (p.Asn320Thr) n.3889A>C n.3875A>C | |
15 | g.48756325T>A | CA392343124 | CEP152 | c.2923A>T (p.Asn975Tyr) c.2644A>T (p.Asn882Tyr) c.964A>T (p.Asn322Tyr) c.958A>T (p.Asn320Tyr) n.3888A>T n.3874A>T | |
15 | g.48756325T>C | CA392343125 | CEP152 | c.2923A>G (p.Asn975Asp) c.2644A>G (p.Asn882Asp) c.964A>G (p.Asn322Asp) c.958A>G (p.Asn320Asp) n.3888A>G n.3874A>G | gnomAD v4 |
15 | g.48756325T>G | CA392343126 | CEP152 | c.2923A>C (p.Asn975His) c.2644A>C (p.Asn882His) c.964A>C (p.Asn322His) c.958A>C (p.Asn320His) n.3888A>C n.3874A>C | |
15 | g.48756326T>A | CA392343127 | CEP152 | c.2922A>T (p.Gln974His) c.2643A>T (p.Gln881His) c.963A>T (p.Gln321His) c.957A>T (p.Gln319His) n.3887A>T n.3873A>T | |
15 | g.48756326T>C | CA490311323 | CEP152 | c.2922A>G (p.Gln974=) c.2643A>G (p.Gln881=) c.963A>G (p.Gln321=) c.957A>G (p.Gln319=) n.3887A>G n.3873A>G | |
15 | g.48756326T>G | CA392343128 | CEP152 | c.2922A>C (p.Gln974His) c.2643A>C (p.Gln881His) c.963A>C (p.Gln321His) c.957A>C (p.Gln319His) n.3887A>C n.3873A>C | |
15 | g.48756327T>A | CA392343131 | CEP152 | c.2921A>T (p.Gln974Leu) c.2642A>T (p.Gln881Leu) c.962A>T (p.Gln321Leu) c.956A>T (p.Gln319Leu) n.3886A>T n.3872A>T | |
15 | g.48756327T>C | CA392343130 | CEP152 | c.2921A>G (p.Gln974Arg) c.2642A>G (p.Gln881Arg) c.962A>G (p.Gln321Arg) c.956A>G (p.Gln319Arg) n.3886A>G n.3872A>G | |
15 | g.48756327T>G | CA392343129 | CEP152 | c.2921A>C (p.Gln974Pro) c.2642A>C (p.Gln881Pro) c.962A>C (p.Gln321Pro) c.956A>C (p.Gln319Pro) n.3886A>C n.3872A>C | |
15 | g.48756328G>A | CA7548446 | CEP152 | c.2920C>T (p.Gln974Ter) c.2641C>T (p.Gln881Ter) c.961C>T (p.Gln321Ter) c.955C>T (p.Gln319Ter) n.3885C>T n.3871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756328G>C | CA392343132 | CEP152 | c.2920C>G (p.Gln974Glu) c.2641C>G (p.Gln881Glu) c.961C>G (p.Gln321Glu) c.955C>G (p.Gln319Glu) n.3885C>G n.3871C>G | |
15 | g.48756328G= | CA2175629077 | CEP152 | c.2920C= (p.Gln974=) c.2641C= (p.Gln881=) c.961C= (p.Gln321=) c.955C= (p.Gln319=) n.3885C= n.3871C= | |
15 | g.48756328G>T | CA7548445 | CEP152 | c.2920C>A (p.Gln974Lys) c.2641C>A (p.Gln881Lys) c.961C>A (p.Gln321Lys) c.955C>A (p.Gln319Lys) n.3885C>A n.3871C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756329T>A | CA392343133 | CEP152 | c.2919A>T (p.Glu973Asp) c.2640A>T (p.Glu880Asp) c.960A>T (p.Glu320Asp) c.954A>T (p.Glu318Asp) n.3884A>T n.3870A>T | |
15 | g.48756329T>C | CA7548447 | CEP152 | c.2919A>G (p.Glu973=) c.2640A>G (p.Glu880=) c.960A>G (p.Glu320=) c.954A>G (p.Glu318=) n.3884A>G n.3870A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756329T>G | CA392343134 | CEP152 | c.2919A>C (p.Glu973Asp) c.2640A>C (p.Glu880Asp) c.960A>C (p.Glu320Asp) c.954A>C (p.Glu318Asp) n.3884A>C n.3870A>C | |
15 | g.48756329T= | CA2175629083 | CEP152 | c.2919A= (p.Glu973=) c.2640A= (p.Glu880=) c.960A= (p.Glu320=) c.954A= (p.Glu318=) n.3884A= n.3870A= | |
15 | g.48756330T>A | CA392343135 | CEP152 | c.2918A>T (p.Glu973Val) c.2639A>T (p.Glu880Val) c.959A>T (p.Glu320Val) c.953A>T (p.Glu318Val) n.3883A>T n.3869A>T | |
15 | g.48756330T>C | CA392343136 | CEP152 | c.2918A>G (p.Glu973Gly) c.2639A>G (p.Glu880Gly) c.959A>G (p.Glu320Gly) c.953A>G (p.Glu318Gly) n.3883A>G n.3869A>G | |
15 | g.48756330T>G | CA392343137 | CEP152 | c.2918A>C (p.Glu973Ala) c.2639A>C (p.Glu880Ala) c.959A>C (p.Glu320Ala) c.953A>C (p.Glu318Ala) n.3883A>C n.3869A>C | |
15 | g.48756331C>A | CA392343138 | CEP152 | c.2917G>T (p.Glu973Ter) c.2638G>T (p.Glu880Ter) c.958G>T (p.Glu320Ter) c.952G>T (p.Glu318Ter) n.3882G>T n.3868G>T | |
15 | g.48756331C>G | CA392343139 | CEP152 | c.2917G>C (p.Glu973Gln) c.2638G>C (p.Glu880Gln) c.958G>C (p.Glu320Gln) c.952G>C (p.Glu318Gln) n.3882G>C n.3868G>C | |
15 | g.48756331C>T | CA392343140 | CEP152 | c.2917G>A (p.Glu973Lys) c.2638G>A (p.Glu880Lys) c.958G>A (p.Glu320Lys) c.952G>A (p.Glu318Lys) n.3882G>A n.3868G>A | COSMIC |
15 | g.48756332T>A | CA392343142 | CEP152 | c.2916A>T (p.Gln972His) c.2637A>T (p.Gln879His) c.957A>T (p.Gln319His) c.951A>T (p.Gln317His) n.3881A>T n.3867A>T | |
15 | g.48756332T>C | CA490311324 | CEP152 | c.2916A>G (p.Gln972=) c.2637A>G (p.Gln879=) c.957A>G (p.Gln319=) c.951A>G (p.Gln317=) n.3881A>G n.3867A>G | |
15 | g.48756332T>G | CA392343141 | CEP152 | c.2916A>C (p.Gln972His) c.2637A>C (p.Gln879His) c.957A>C (p.Gln319His) c.951A>C (p.Gln317His) n.3881A>C n.3867A>C | |
15 | g.48756333T>A | CA392343143 | CEP152 | c.2915A>T (p.Gln972Leu) c.2636A>T (p.Gln879Leu) c.956A>T (p.Gln319Leu) c.950A>T (p.Gln317Leu) n.3880A>T n.3866A>T | |
15 | g.48756333T>C | CA392343144 | CEP152 | c.2915A>G (p.Gln972Arg) c.2636A>G (p.Gln879Arg) c.956A>G (p.Gln319Arg) c.950A>G (p.Gln317Arg) n.3880A>G n.3866A>G | |
15 | g.48756333T>G | CA392343145 | CEP152 | c.2915A>C (p.Gln972Pro) c.2636A>C (p.Gln879Pro) c.956A>C (p.Gln319Pro) c.950A>C (p.Gln317Pro) n.3880A>C n.3866A>C | gnomAD v4 |
15 | g.48756334G>A | CA392343146 | CEP152 | c.2914C>T (p.Gln972Ter) c.2635C>T (p.Gln879Ter) c.955C>T (p.Gln319Ter) c.949C>T (p.Gln317Ter) n.3879C>T n.3865C>T | |
15 | g.48756334G>C | CA392343147 | CEP152 | c.2914C>G (p.Gln972Glu) c.2635C>G (p.Gln879Glu) c.955C>G (p.Gln319Glu) c.949C>G (p.Gln317Glu) n.3879C>G n.3865C>G | |
15 | g.48756334G>T | CA392343148 | CEP152 | c.2914C>A (p.Gln972Lys) c.2635C>A (p.Gln879Lys) c.955C>A (p.Gln319Lys) c.949C>A (p.Gln317Lys) n.3879C>A n.3865C>A | |
15 | g.48756335G>A | CA490311325 | CEP152 | c.2913C>T (p.Ile971=) c.2634C>T (p.Ile878=) c.954C>T (p.Ile318=) c.948C>T (p.Ile316=) n.3878C>T n.3864C>T | |
15 | g.48756335G>C | CA392343149 | CEP152 | c.2913C>G (p.Ile971Met) c.2634C>G (p.Ile878Met) c.954C>G (p.Ile318Met) c.948C>G (p.Ile316Met) n.3878C>G n.3864C>G | COSMIC COSMIC |
15 | g.48756335G>T | CA490311326 | CEP152 | c.2913C>A (p.Ile971=) c.2634C>A (p.Ile878=) c.954C>A (p.Ile318=) c.948C>A (p.Ile316=) n.3878C>A n.3864C>A | |
15 | g.48756336A>C | CA392343150 | CEP152 | c.2912T>G (p.Ile971Ser) c.2633T>G (p.Ile878Ser) c.953T>G (p.Ile318Ser) c.947T>G (p.Ile316Ser) n.3877T>G n.3863T>G | |
15 | g.48756336A>G | CA392343151 | CEP152 | c.2912T>C (p.Ile971Thr) c.2633T>C (p.Ile878Thr) c.953T>C (p.Ile318Thr) c.947T>C (p.Ile316Thr) n.3877T>C n.3863T>C | |
15 | g.48756336A>T | CA392343152 | CEP152 | c.2912T>A (p.Ile971Asn) c.2633T>A (p.Ile878Asn) c.953T>A (p.Ile318Asn) c.947T>A (p.Ile316Asn) n.3877T>A n.3863T>A | |
15 | g.48756337T>A | CA392343153 | CEP152 | c.2911A>T (p.Ile971Phe) c.2632A>T (p.Ile878Phe) c.952A>T (p.Ile318Phe) c.946A>T (p.Ile316Phe) n.3876A>T n.3862A>T | |
15 | g.48756337T>C | CA392343154 | CEP152 | c.2911A>G (p.Ile971Val) c.2632A>G (p.Ile878Val) c.952A>G (p.Ile318Val) c.946A>G (p.Ile316Val) n.3876A>G n.3862A>G | |
15 | g.48756337T>G | CA269538028 | CEP152 | c.2911A>C (p.Ile971Leu) c.2632A>C (p.Ile878Leu) c.952A>C (p.Ile318Leu) c.946A>C (p.Ile316Leu) n.3876A>C n.3862A>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756337T= | CA2175629085 | CEP152 | c.2911A= (p.Ile971=) c.2632A= (p.Ile878=) c.952A= (p.Ile318=) c.946A= (p.Ile316=) n.3876A= n.3862A= | |
15 | g.48756338T>A | CA392343155 | CEP152 | c.2910A>T (p.Arg970Ser) c.2631A>T (p.Arg877Ser) c.951A>T (p.Arg317Ser) c.945A>T (p.Arg315Ser) n.3875A>T n.3861A>T | gnomAD v4 |
15 | g.48756338T>C | CA490311327 | CEP152 | c.2910A>G (p.Arg970=) c.2631A>G (p.Arg877=) c.951A>G (p.Arg317=) c.945A>G (p.Arg315=) n.3875A>G n.3861A>G | |
15 | g.48756338T>G | CA392343156 | CEP152 | c.2910A>C (p.Arg970Ser) c.2631A>C (p.Arg877Ser) c.951A>C (p.Arg317Ser) c.945A>C (p.Arg315Ser) n.3875A>C n.3861A>C | |
15 | g.48756339C>A | CA392343157 | CEP152 | c.2909G>T (p.Arg970Ile) c.2630G>T (p.Arg877Ile) c.950G>T (p.Arg317Ile) c.944G>T (p.Arg315Ile) n.3874G>T n.3860G>T | |
15 | g.48756339C>G | CA392343159 | CEP152 | c.2909G>C (p.Arg970Thr) c.2630G>C (p.Arg877Thr) c.950G>C (p.Arg317Thr) c.944G>C (p.Arg315Thr) n.3874G>C n.3860G>C | |
15 | g.48756339C>T | CA392343158 | CEP152 | c.2909G>A (p.Arg970Lys) c.2630G>A (p.Arg877Lys) c.950G>A (p.Arg317Lys) c.944G>A (p.Arg315Lys) n.3874G>A n.3860G>A | |
15 | g.48756340T>A | CA392343160 | CEP152 | c.2908A>T (p.Arg970Ter) c.2629A>T (p.Arg877Ter) c.949A>T (p.Arg317Ter) c.943A>T (p.Arg315Ter) n.3873A>T n.3859A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756340T>C | CA392343161 | CEP152 | c.2908A>G (p.Arg970Gly) c.2629A>G (p.Arg877Gly) c.949A>G (p.Arg317Gly) c.943A>G (p.Arg315Gly) n.3873A>G n.3859A>G | |
15 | g.48756340T>G | CA490311328 | CEP152 | c.2908A>C (p.Arg970=) c.2629A>C (p.Arg877=) c.949A>C (p.Arg317=) c.943A>C (p.Arg315=) n.3873A>C n.3859A>C | |
15 | g.48756340T= | CA2175629088 | CEP152 | c.2908A= (p.Arg970=) c.2629A= (p.Arg877=) c.949A= (p.Arg317=) c.943A= (p.Arg315=) n.3873A= n.3859A= | |
15 | g.48756341G>A | CA490311329 | CEP152 | c.2907C>T (p.His969=) c.2628C>T (p.His876=) c.948C>T (p.His316=) c.942C>T (p.His314=) n.3872C>T n.3858C>T | |
15 | g.48756341G>C | CA392343162 | CEP152 | c.2907C>G (p.His969Gln) c.2628C>G (p.His876Gln) c.948C>G (p.His316Gln) c.942C>G (p.His314Gln) n.3872C>G n.3858C>G | |
15 | g.48756341G>T | CA392343163 | CEP152 | c.2907C>A (p.His969Gln) c.2628C>A (p.His876Gln) c.948C>A (p.His316Gln) c.942C>A (p.His314Gln) n.3872C>A n.3858C>A | |
15 | g.48756342T>A | CA392343164 | CEP152 | c.2906A>T (p.His969Leu) c.2627A>T (p.His876Leu) c.947A>T (p.His316Leu) c.941A>T (p.His314Leu) n.3871A>T n.3857A>T | |
15 | g.48756342T>C | CA392343165 | CEP152 | c.2906A>G (p.His969Arg) c.2627A>G (p.His876Arg) c.947A>G (p.His316Arg) c.941A>G (p.His314Arg) n.3871A>G n.3857A>G | |
15 | g.48756342T>G | CA392343166 | CEP152 | c.2906A>C (p.His969Pro) c.2627A>C (p.His876Pro) c.947A>C (p.His316Pro) c.941A>C (p.His314Pro) n.3871A>C n.3857A>C | |
15 | g.48756343G>A | CA7548448 | CEP152 | c.2905C>T (p.His969Tyr) c.2626C>T (p.His876Tyr) c.946C>T (p.His316Tyr) c.940C>T (p.His314Tyr) n.3870C>T n.3856C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756343G>C | CA392343167 | CEP152 | c.2905C>G (p.His969Asp) c.2626C>G (p.His876Asp) c.946C>G (p.His316Asp) c.940C>G (p.His314Asp) n.3870C>G n.3856C>G | |
15 | g.48756343G= | CA2175629091 | CEP152 | c.2905C= (p.His969=) c.2626C= (p.His876=) c.946C= (p.His316=) c.940C= (p.His314=) n.3870C= n.3856C= | |
15 | g.48756343G>T | CA392343168 | CEP152 | c.2905C>A (p.His969Asn) c.2626C>A (p.His876Asn) c.946C>A (p.His316Asn) c.940C>A (p.His314Asn) n.3870C>A n.3856C>A | |
15 | g.48756344G>A | CA490311330 | CEP152 | c.2904C>T (p.Ile968=) c.2625C>T (p.Ile875=) c.945C>T (p.Ile315=) c.939C>T (p.Ile313=) n.3869C>T n.3855C>T | gnomAD v4 |
15 | g.48756344G>C | CA392343169 | CEP152 | c.2904C>G (p.Ile968Met) c.2625C>G (p.Ile875Met) c.945C>G (p.Ile315Met) c.939C>G (p.Ile313Met) n.3869C>G n.3855C>G | |
15 | g.48756344G= | CA2175629095 | CEP152 | c.2904C= (p.Ile968=) c.2625C= (p.Ile875=) c.945C= (p.Ile315=) c.939C= (p.Ile313=) n.3869C= n.3855C= | |
15 | g.48756344G>T | CA490311331 | CEP152 | c.2904C>A (p.Ile968=) c.2625C>A (p.Ile875=) c.945C>A (p.Ile315=) c.939C>A (p.Ile313=) n.3869C>A n.3855C>A | dbSNP |
15 | g.48756345A>C | CA392343170 | CEP152 | c.2903T>G (p.Ile968Ser) c.2624T>G (p.Ile875Ser) c.944T>G (p.Ile315Ser) c.938T>G (p.Ile313Ser) n.3868T>G n.3854T>G | |
15 | g.48756345A>G | CA392343171 | CEP152 | c.2903T>C (p.Ile968Thr) c.2624T>C (p.Ile875Thr) c.944T>C (p.Ile315Thr) c.938T>C (p.Ile313Thr) n.3868T>C n.3854T>C | |
15 | g.48756345A>T | CA392343172 | CEP152 | c.2903T>A (p.Ile968Asn) c.2624T>A (p.Ile875Asn) c.944T>A (p.Ile315Asn) c.938T>A (p.Ile313Asn) n.3868T>A n.3854T>A | |
15 | g.48756346T>A | CA392343173 | CEP152 | c.2902A>T (p.Ile968Phe) c.2623A>T (p.Ile875Phe) c.943A>T (p.Ile315Phe) c.937A>T (p.Ile313Phe) n.3867A>T n.3853A>T | |
15 | g.48756346T>C | CA269538035 | CEP152 | c.2902A>G (p.Ile968Val) c.2623A>G (p.Ile875Val) c.943A>G (p.Ile315Val) c.937A>G (p.Ile313Val) n.3867A>G n.3853A>G | dbSNP |
15 | g.48756346T>G | CA392343174 | CEP152 | c.2902A>C (p.Ile968Leu) c.2623A>C (p.Ile875Leu) c.943A>C (p.Ile315Leu) c.937A>C (p.Ile313Leu) n.3867A>C n.3853A>C | |
15 | g.48756346T= | CA2175629098 | CEP152 | c.2902A= (p.Ile968=) c.2623A= (p.Ile875=) c.943A= (p.Ile315=) c.937A= (p.Ile313=) n.3867A= n.3853A= | |
15 | g.48756347T>A | CA392343176 | CEP152 | c.2901A>T (p.Glu967Asp) c.2622A>T (p.Glu874Asp) c.942A>T (p.Glu314Asp) c.936A>T (p.Glu312Asp) n.3866A>T n.3852A>T | |
15 | g.48756347T>C | CA10647104 | CEP152 | c.2901A>G (p.Glu967=) c.2622A>G (p.Glu874=) c.942A>G (p.Glu314=) c.936A>G (p.Glu312=) n.3866A>G n.3852A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756347T>G | CA392343175 | CEP152 | c.2901A>C (p.Glu967Asp) c.2622A>C (p.Glu874Asp) c.942A>C (p.Glu314Asp) c.936A>C (p.Glu312Asp) n.3866A>C n.3852A>C | |
15 | g.48756347T= | CA2175629107 | CEP152 | c.2901A= (p.Glu967=) c.2622A= (p.Glu874=) c.942A= (p.Glu314=) c.936A= (p.Glu312=) n.3866A= n.3852A= | |
15 | g.48756348T>A | CA392343177 | CEP152 | c.2900A>T (p.Glu967Val) c.2621A>T (p.Glu874Val) c.941A>T (p.Glu314Val) c.935A>T (p.Glu312Val) n.3865A>T n.3851A>T | |
15 | g.48756348T>C | CA392343178 | CEP152 | c.2900A>G (p.Glu967Gly) c.2621A>G (p.Glu874Gly) c.941A>G (p.Glu314Gly) c.935A>G (p.Glu312Gly) n.3865A>G n.3851A>G | |
15 | g.48756348T>G | CA392343179 | CEP152 | c.2900A>C (p.Glu967Ala) c.2621A>C (p.Glu874Ala) c.941A>C (p.Glu314Ala) c.935A>C (p.Glu312Ala) n.3865A>C n.3851A>C | |
15 | g.48756349C>A | CA392343180 | CEP152 | c.2899G>T (p.Glu967Ter) c.2620G>T (p.Glu874Ter) c.940G>T (p.Glu314Ter) c.934G>T (p.Glu312Ter) n.3864G>T n.3850G>T | |
15 | g.48756349C= | CA2175629111 | CEP152 | c.2899G= (p.Glu967=) c.2620G= (p.Glu874=) c.940G= (p.Glu314=) c.934G= (p.Glu312=) n.3864G= n.3850G= | |
15 | g.48756349C>G | CA392343181 | CEP152 | c.2899G>C (p.Glu967Gln) c.2620G>C (p.Glu874Gln) c.940G>C (p.Glu314Gln) c.934G>C (p.Glu312Gln) n.3864G>C n.3850G>C | |
15 | g.48756349C>T | CA392343182 | CEP152 | c.2899G>A (p.Glu967Lys) c.2620G>A (p.Glu874Lys) c.940G>A (p.Glu314Lys) c.934G>A (p.Glu312Lys) n.3864G>A n.3850G>A | dbSNP gnomAD v4 |
15 | g.48756350T>A | CA392343183 | CEP152 | c.2898A>T (p.Glu966Asp) c.2619A>T (p.Glu873Asp) c.939A>T (p.Glu313Asp) c.933A>T (p.Glu311Asp) n.3863A>T n.3849A>T | |
15 | g.48756350T>C | CA269538042 | CEP152 | c.2898A>G (p.Glu966=) c.2619A>G (p.Glu873=) c.939A>G (p.Glu313=) c.933A>G (p.Glu311=) n.3863A>G n.3849A>G | dbSNP gnomAD v4 |
15 | g.48756350T>G | CA392343184 | CEP152 | c.2898A>C (p.Glu966Asp) c.2619A>C (p.Glu873Asp) c.939A>C (p.Glu313Asp) c.933A>C (p.Glu311Asp) n.3863A>C n.3849A>C | |
15 | g.48756350T= | CA2175629114 | CEP152 | c.2898A= (p.Glu966=) c.2619A= (p.Glu873=) c.939A= (p.Glu313=) c.933A= (p.Glu311=) n.3863A= n.3849A= | |
15 | g.48756351T>A | CA392343185 | CEP152 | c.2897A>T (p.Glu966Val) c.2618A>T (p.Glu873Val) c.938A>T (p.Glu313Val) c.932A>T (p.Glu311Val) n.3862A>T n.3848A>T | |
15 | g.48756351T>C | CA269538046 | CEP152 | c.2897A>G (p.Glu966Gly) c.2618A>G (p.Glu873Gly) c.938A>G (p.Glu313Gly) c.932A>G (p.Glu311Gly) n.3862A>G n.3848A>G | dbSNP gnomAD v4 |
15 | g.48756351T>G | CA392343186 | CEP152 | c.2897A>C (p.Glu966Ala) c.2618A>C (p.Glu873Ala) c.938A>C (p.Glu313Ala) c.932A>C (p.Glu311Ala) n.3862A>C n.3848A>C | |
15 | g.48756351T= | CA2175629120 | CEP152 | c.2897A= (p.Glu966=) c.2618A= (p.Glu873=) c.938A= (p.Glu313=) c.932A= (p.Glu311=) n.3862A= n.3848A= | |
15 | g.48756352C>A | CA392343187 | CEP152 | c.2896G>T (p.Glu966Ter) c.2617G>T (p.Glu873Ter) c.937G>T (p.Glu313Ter) c.931G>T (p.Glu311Ter) n.3861G>T n.3847G>T | gnomAD v4 |
15 | g.48756352C= | CA2175629123 | CEP152 | c.2896G= (p.Glu966=) c.2617G= (p.Glu873=) c.937G= (p.Glu313=) c.931G= (p.Glu311=) n.3861G= n.3847G= | |
15 | g.48756352C>G | CA392343189 | CEP152 | c.2896G>C (p.Glu966Gln) c.2617G>C (p.Glu873Gln) c.937G>C (p.Glu313Gln) c.931G>C (p.Glu311Gln) n.3861G>C n.3847G>C | gnomAD v4 |
15 | g.48756352C>T | CA392343188 | CEP152 | c.2896G>A (p.Glu966Lys) c.2617G>A (p.Glu873Lys) c.937G>A (p.Glu313Lys) c.931G>A (p.Glu311Lys) n.3861G>A n.3847G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756355_48756358del | CA2575718055 | CEP152 | c.2893_2896del (p.Gln965LysfsTer18) c.2614_2617del (p.Gln872LysfsTer18) c.934_937del (p.Gln312LysfsTer18) c.928_931del (p.Gln310LysfsTer18) n.3858_3861del n.3844_3847del | gnomAD v4 |
15 | g.48756353T>A | CA392343190 | CEP152 | c.2895A>T (p.Gln965His) c.2616A>T (p.Gln872His) c.936A>T (p.Gln312His) c.930A>T (p.Gln310His) n.3860A>T n.3846A>T | |
15 | g.48756353T>C | CA490311332 | CEP152 | c.2895A>G (p.Gln965=) c.2616A>G (p.Gln872=) c.936A>G (p.Gln312=) c.930A>G (p.Gln310=) n.3860A>G n.3846A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756353T>G | CA392343191 | CEP152 | c.2895A>C (p.Gln965His) c.2616A>C (p.Gln872His) c.936A>C (p.Gln312His) c.930A>C (p.Gln310His) n.3860A>C n.3846A>C | |
15 | g.48756353T= | CA2175629127 | CEP152 | c.2895A= (p.Gln965=) c.2616A= (p.Gln872=) c.936A= (p.Gln312=) c.930A= (p.Gln310=) n.3860A= n.3846A= | |
15 | g.48756354T>A | CA392343192 | CEP152 | c.2894A>T (p.Gln965Leu) c.2615A>T (p.Gln872Leu) c.935A>T (p.Gln312Leu) c.929A>T (p.Gln310Leu) n.3859A>T n.3845A>T | |
15 | g.48756354T>C | CA269538051 | CEP152 | c.2894A>G (p.Gln965Arg) c.2615A>G (p.Gln872Arg) c.935A>G (p.Gln312Arg) c.929A>G (p.Gln310Arg) n.3859A>G n.3845A>G | dbSNP |
15 | g.48756354T>G | CA392343193 | CEP152 | c.2894A>C (p.Gln965Pro) c.2615A>C (p.Gln872Pro) c.935A>C (p.Gln312Pro) c.929A>C (p.Gln310Pro) n.3859A>C n.3845A>C | |
15 | g.48756354T= | CA2175629132 | CEP152 | c.2894A= (p.Gln965=) c.2615A= (p.Gln872=) c.935A= (p.Gln312=) c.929A= (p.Gln310=) n.3859A= n.3845A= | |
15 | g.48756355G>A | CA392343194 | CEP152 | c.2893C>T (p.Gln965Ter) c.2614C>T (p.Gln872Ter) c.934C>T (p.Gln312Ter) c.928C>T (p.Gln310Ter) n.3858C>T n.3844C>T | dbSNP |
15 | g.48756355G>C | CA7548449 | CEP152 | c.2893C>G (p.Gln965Glu) c.2614C>G (p.Gln872Glu) c.934C>G (p.Gln312Glu) c.928C>G (p.Gln310Glu) n.3858C>G n.3844C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756355G= | CA2175629138 | CEP152 | c.2893C= (p.Gln965=) c.2614C= (p.Gln872=) c.934C= (p.Gln312=) c.928C= (p.Gln310=) n.3858C= n.3844C= | |
15 | g.48756355G>T | CA392343195 | CEP152 | c.2893C>A (p.Gln965Lys) c.2614C>A (p.Gln872Lys) c.934C>A (p.Gln312Lys) c.928C>A (p.Gln310Lys) n.3858C>A n.3844C>A | |
15 | g.48756356C>A | CA392343196 | CEP152 | c.2892G>T (p.Lys964Asn) c.2613G>T (p.Lys871Asn) c.933G>T (p.Lys311Asn) c.927G>T (p.Lys309Asn) n.3857G>T n.3843G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756356C= | CA2175629141 | CEP152 | c.2892G= (p.Lys964=) c.2613G= (p.Lys871=) c.933G= (p.Lys311=) c.927G= (p.Lys309=) n.3857G= n.3843G= | |
15 | g.48756356C>G | CA392343197 | CEP152 | c.2892G>C (p.Lys964Asn) c.2613G>C (p.Lys871Asn) c.933G>C (p.Lys311Asn) c.927G>C (p.Lys309Asn) n.3857G>C n.3843G>C | |
15 | g.48756356C>T | CA490311333 | CEP152 | c.2892G>A (p.Lys964=) c.2613G>A (p.Lys871=) c.933G>A (p.Lys311=) c.927G>A (p.Lys309=) n.3857G>A n.3843G>A | dbSNP gnomAD v4 |
15 | g.48756357T>A | CA392343198 | CEP152 | c.2891A>T (p.Lys964Met) c.2612A>T (p.Lys871Met) c.932A>T (p.Lys311Met) c.926A>T (p.Lys309Met) n.3856A>T n.3842A>T | |
15 | g.48756357T>C | CA392343199 | CEP152 | c.2891A>G (p.Lys964Arg) c.2612A>G (p.Lys871Arg) c.932A>G (p.Lys311Arg) c.926A>G (p.Lys309Arg) n.3856A>G n.3842A>G | |
15 | g.48756357T>G | CA392343200 | CEP152 | c.2891A>C (p.Lys964Thr) c.2612A>C (p.Lys871Thr) c.932A>C (p.Lys311Thr) c.926A>C (p.Lys309Thr) n.3856A>C n.3842A>C | |
15 | g.48756358T>A | CA392343201 | CEP152 | c.2890A>T (p.Lys964Ter) c.2611A>T (p.Lys871Ter) c.931A>T (p.Lys311Ter) c.925A>T (p.Lys309Ter) n.3855A>T n.3841A>T | |
15 | g.48756358T>C | CA392343203 | CEP152 | c.2890A>G (p.Lys964Glu) c.2611A>G (p.Lys871Glu) c.931A>G (p.Lys311Glu) c.925A>G (p.Lys309Glu) n.3855A>G n.3841A>G | gnomAD v4 |
15 | g.48756358T>G | CA392343202 | CEP152 | c.2890A>C (p.Lys964Gln) c.2611A>C (p.Lys871Gln) c.931A>C (p.Lys311Gln) c.925A>C (p.Lys309Gln) n.3855A>C n.3841A>C | |
15 | g.48756359T>A | CA392343204 | CEP152 | c.2889A>T (p.Glu963Asp) c.2610A>T (p.Glu870Asp) c.930A>T (p.Glu310Asp) c.924A>T (p.Glu308Asp) n.3854A>T n.3840A>T | |
15 | g.48756359T>C | CA490311334 | CEP152 | c.2889A>G (p.Glu963=) c.2610A>G (p.Glu870=) c.930A>G (p.Glu310=) c.924A>G (p.Glu308=) n.3854A>G n.3840A>G | |
15 | g.48756359T>G | CA392343205 | CEP152 | c.2889A>C (p.Glu963Asp) c.2610A>C (p.Glu870Asp) c.930A>C (p.Glu310Asp) c.924A>C (p.Glu308Asp) n.3854A>C n.3840A>C | |
15 | g.48756360T>A | CA392343206 | CEP152 | c.2888A>T (p.Glu963Val) c.2609A>T (p.Glu870Val) c.929A>T (p.Glu310Val) c.923A>T (p.Glu308Val) n.3853A>T n.3839A>T | |
15 | g.48756360T>C | CA392343207 | CEP152 | c.2888A>G (p.Glu963Gly) c.2609A>G (p.Glu870Gly) c.929A>G (p.Glu310Gly) c.923A>G (p.Glu308Gly) n.3853A>G n.3839A>G | gnomAD v4 |
15 | g.48756360T>G | CA392343208 | CEP152 | c.2888A>C (p.Glu963Ala) c.2609A>C (p.Glu870Ala) c.929A>C (p.Glu310Ala) c.923A>C (p.Glu308Ala) n.3853A>C n.3839A>C | |
15 | g.48756361C>A | CA392343209 | CEP152 | c.2887G>T (p.Glu963Ter) c.2608G>T (p.Glu870Ter) c.928G>T (p.Glu310Ter) c.922G>T (p.Glu308Ter) n.3852G>T n.3838G>T | COSMIC |
15 | g.48756361C>G | CA392343210 | CEP152 | c.2887G>C (p.Glu963Gln) c.2608G>C (p.Glu870Gln) c.928G>C (p.Glu310Gln) c.922G>C (p.Glu308Gln) n.3852G>C n.3838G>C | |
15 | g.48756361C>T | CA392343211 | CEP152 | c.2887G>A (p.Glu963Lys) c.2608G>A (p.Glu870Lys) c.928G>A (p.Glu310Lys) c.922G>A (p.Glu308Lys) n.3852G>A n.3838G>A | |
15 | g.48756362T>A | CA392343212 | CEP152 | c.2886A>T (p.Lys962Asn) c.2607A>T (p.Lys869Asn) c.927A>T (p.Lys309Asn) c.921A>T (p.Lys307Asn) n.3851A>T n.3837A>T | |
15 | g.48756362T>C | CA490311336 | CEP152 | c.2886A>G (p.Lys962=) c.2607A>G (p.Lys869=) c.927A>G (p.Lys309=) c.921A>G (p.Lys307=) n.3851A>G n.3837A>G | ClinVar |
15 | g.48756362T>G | CA392343213 | CEP152 | c.2886A>C (p.Lys962Asn) c.2607A>C (p.Lys869Asn) c.927A>C (p.Lys309Asn) c.921A>C (p.Lys307Asn) n.3851A>C n.3837A>C | COSMIC COSMIC |
15 | g.48756363T>A | CA392343215 | CEP152 | c.2885A>T (p.Lys962Ile) c.2606A>T (p.Lys869Ile) c.926A>T (p.Lys309Ile) c.920A>T (p.Lys307Ile) n.3850A>T n.3836A>T | |
15 | g.48756363T>C | CA392343216 | CEP152 | c.2885A>G (p.Lys962Arg) c.2606A>G (p.Lys869Arg) c.926A>G (p.Lys309Arg) c.920A>G (p.Lys307Arg) n.3850A>G n.3836A>G | |
15 | g.48756363T>G | CA392343214 | CEP152 | c.2885A>C (p.Lys962Thr) c.2606A>C (p.Lys869Thr) c.926A>C (p.Lys309Thr) c.920A>C (p.Lys307Thr) n.3850A>C n.3836A>C | |
15 | g.48756364T>A | CA392343217 | CEP152 | c.2884A>T (p.Lys962Ter) c.2605A>T (p.Lys869Ter) c.925A>T (p.Lys309Ter) c.919A>T (p.Lys307Ter) n.3849A>T n.3835A>T | |
15 | g.48756364T>C | CA392343218 | CEP152 | c.2884A>G (p.Lys962Glu) c.2605A>G (p.Lys869Glu) c.925A>G (p.Lys309Glu) c.919A>G (p.Lys307Glu) n.3849A>G n.3835A>G | |
15 | g.48756364T>G | CA392343219 | CEP152 | c.2884A>C (p.Lys962Gln) c.2605A>C (p.Lys869Gln) c.925A>C (p.Lys309Gln) c.919A>C (p.Lys307Gln) n.3849A>C n.3835A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756364T= | CA2175629143 | CEP152 | c.2884A= (p.Lys962=) c.2605A= (p.Lys869=) c.925A= (p.Lys309=) c.919A= (p.Lys307=) n.3849A= n.3835A= | |
15 | g.48756365G>A | CA490311337 | CEP152 | c.2883C>T (p.Asn961=) c.2604C>T (p.Asn868=) c.924C>T (p.Asn308=) c.918C>T (p.Asn306=) n.3848C>T n.3834C>T | |
15 | g.48756365G>C | CA392343220 | CEP152 | c.2883C>G (p.Asn961Lys) c.2604C>G (p.Asn868Lys) c.924C>G (p.Asn308Lys) c.918C>G (p.Asn306Lys) n.3848C>G n.3834C>G | |
15 | g.48756365G= | CA2175629146 | CEP152 | c.2883C= (p.Asn961=) c.2604C= (p.Asn868=) c.924C= (p.Asn308=) c.918C= (p.Asn306=) n.3848C= n.3834C= | |
15 | g.48756365G>T | CA392343221 | CEP152 | c.2883C>A (p.Asn961Lys) c.2604C>A (p.Asn868Lys) c.924C>A (p.Asn308Lys) c.918C>A (p.Asn306Lys) n.3848C>A n.3834C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756366T>A | CA392343223 | CEP152 | c.2882A>T (p.Asn961Ile) c.2603A>T (p.Asn868Ile) c.923A>T (p.Asn308Ile) c.917A>T (p.Asn306Ile) n.3847A>T n.3833A>T | |
15 | g.48756366T>C | CA7548450 | CEP152 | c.2882A>G (p.Asn961Ser) c.2603A>G (p.Asn868Ser) c.923A>G (p.Asn308Ser) c.917A>G (p.Asn306Ser) n.3847A>G n.3833A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756366T>G | CA392343222 | CEP152 | c.2882A>C (p.Asn961Thr) c.2603A>C (p.Asn868Thr) c.923A>C (p.Asn308Thr) c.917A>C (p.Asn306Thr) n.3847A>C n.3833A>C | |
15 | g.48756366T= | CA2175629150 | CEP152 | c.2882A= (p.Asn961=) c.2603A= (p.Asn868=) c.923A= (p.Asn308=) c.917A= (p.Asn306=) n.3847A= n.3833A= | |
15 | g.48756367T>A | CA392343224 | CEP152 | c.2881A>T (p.Asn961Tyr) c.2602A>T (p.Asn868Tyr) c.922A>T (p.Asn308Tyr) c.916A>T (p.Asn306Tyr) n.3846A>T n.3832A>T | |
15 | g.48756367T>C | CA392343225 | CEP152 | c.2881A>G (p.Asn961Asp) c.2602A>G (p.Asn868Asp) c.922A>G (p.Asn308Asp) c.916A>G (p.Asn306Asp) n.3846A>G n.3832A>G | |
15 | g.48756367T>G | CA392343226 | CEP152 | c.2881A>C (p.Asn961His) c.2602A>C (p.Asn868His) c.922A>C (p.Asn308His) c.916A>C (p.Asn306His) n.3846A>C n.3832A>C | |
15 | g.48756368C>A | CA392343227 | CEP152 | c.2880G>T (p.Trp960Cys) c.2601G>T (p.Trp867Cys) c.921G>T (p.Trp307Cys) c.915G>T (p.Trp305Cys) n.3845G>T n.3831G>T | |
15 | g.48756368C>G | CA392343228 | CEP152 | c.2880G>C (p.Trp960Cys) c.2601G>C (p.Trp867Cys) c.921G>C (p.Trp307Cys) c.915G>C (p.Trp305Cys) n.3845G>C n.3831G>C | |
15 | g.48756368C>T | CA392343229 | CEP152 | c.2880G>A (p.Trp960Ter) c.2601G>A (p.Trp867Ter) c.921G>A (p.Trp307Ter) c.915G>A (p.Trp305Ter) n.3845G>A n.3831G>A | ClinVar gnomAD v4 |
15 | g.48756369C>A | CA392343232 | CEP152 | c.2879G>T (p.Trp960Leu) c.2600G>T (p.Trp867Leu) c.920G>T (p.Trp307Leu) c.914G>T (p.Trp305Leu) n.3844G>T n.3830G>T | |
15 | g.48756369C>G | CA392343230 | CEP152 | c.2879G>C (p.Trp960Ser) c.2600G>C (p.Trp867Ser) c.920G>C (p.Trp307Ser) c.914G>C (p.Trp305Ser) n.3844G>C n.3830G>C | |
15 | g.48756369C>T | CA392343231 | CEP152 | c.2879G>A (p.Trp960Ter) c.2600G>A (p.Trp867Ter) c.920G>A (p.Trp307Ter) c.914G>A (p.Trp305Ter) n.3844G>A n.3830G>A | gnomAD v4 |
15 | g.48756370A= | CA2175629154 | CEP152 | c.2878T= (p.Trp960=) c.2599T= (p.Trp867=) c.919T= (p.Trp307=) c.913T= (p.Trp305=) n.3843T= n.3829T= | |
15 | g.48756370A>C | CA392343233 | CEP152 | c.2878T>G (p.Trp960Gly) c.2599T>G (p.Trp867Gly) c.919T>G (p.Trp307Gly) c.913T>G (p.Trp305Gly) n.3843T>G n.3829T>G | |
15 | g.48756370A>G | CA211044 | CEP152 | c.2878T>C (p.Trp960Arg) c.2599T>C (p.Trp867Arg) c.919T>C (p.Trp307Arg) c.913T>C (p.Trp305Arg) n.3843T>C n.3829T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756370A>T | CA392343234 | CEP152 | c.2878T>A (p.Trp960Arg) c.2599T>A (p.Trp867Arg) c.919T>A (p.Trp307Arg) c.913T>A (p.Trp305Arg) n.3843T>A n.3829T>A | |
15 | g.48756371T>A | CA392343235 | CEP152 | c.2877A>T (p.Glu959Asp) c.2598A>T (p.Glu866Asp) c.918A>T (p.Glu306Asp) c.912A>T (p.Glu304Asp) n.3842A>T n.3828A>T | |
15 | g.48756371T>C | CA490311338 | CEP152 | c.2877A>G (p.Glu959=) c.2598A>G (p.Glu866=) c.918A>G (p.Glu306=) c.912A>G (p.Glu304=) n.3842A>G n.3828A>G | |
15 | g.48756371T>G | CA392343236 | CEP152 | c.2877A>C (p.Glu959Asp) c.2598A>C (p.Glu866Asp) c.918A>C (p.Glu306Asp) c.912A>C (p.Glu304Asp) n.3842A>C n.3828A>C | |
15 | g.48756372T>A | CA392343237 | CEP152 | c.2876A>T (p.Glu959Val) c.2597A>T (p.Glu866Val) c.917A>T (p.Glu306Val) c.911A>T (p.Glu304Val) n.3841A>T n.3827A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756372T>C | CA392343238 | CEP152 | c.2876A>G (p.Glu959Gly) c.2597A>G (p.Glu866Gly) c.917A>G (p.Glu306Gly) c.911A>G (p.Glu304Gly) n.3841A>G n.3827A>G | |
15 | g.48756372T>G | CA392343239 | CEP152 | c.2876A>C (p.Glu959Ala) c.2597A>C (p.Glu866Ala) c.917A>C (p.Glu306Ala) c.911A>C (p.Glu304Ala) n.3841A>C n.3827A>C | |
15 | g.48756372T= | CA2175629158 | CEP152 | c.2876A= (p.Glu959=) c.2597A= (p.Glu866=) c.917A= (p.Glu306=) c.911A= (p.Glu304=) n.3841A= n.3827A= | |
15 | g.48756373C>A | CA392343240 | CEP152 | c.2875G>T (p.Glu959Ter) c.2596G>T (p.Glu866Ter) c.916G>T (p.Glu306Ter) c.910G>T (p.Glu304Ter) n.3840G>T n.3826G>T | |
15 | g.48756373C>G | CA392343241 | CEP152 | c.2875G>C (p.Glu959Gln) c.2596G>C (p.Glu866Gln) c.916G>C (p.Glu306Gln) c.910G>C (p.Glu304Gln) n.3840G>C n.3826G>C | |
15 | g.48756373C>T | CA392343242 | CEP152 | c.2875G>A (p.Glu959Lys) c.2596G>A (p.Glu866Lys) c.916G>A (p.Glu306Lys) c.910G>A (p.Glu304Lys) n.3840G>A n.3826G>A | |
15 | g.48756374A= | CA2175629161 | CEP152 | c.2874T= (p.Ser958=) c.2595T= (p.Ser865=) c.915T= (p.Ser305=) c.909T= (p.Ser303=) n.3839T= n.3825T= | |
15 | g.48756374A>C | CA392343243 | CEP152 | c.2874T>G (p.Ser958Arg) c.2595T>G (p.Ser865Arg) c.915T>G (p.Ser305Arg) c.909T>G (p.Ser303Arg) n.3839T>G n.3825T>G | |
15 | g.48756374A>G | CA490311339 | CEP152 | c.2874T>C (p.Ser958=) c.2595T>C (p.Ser865=) c.915T>C (p.Ser305=) c.909T>C (p.Ser303=) n.3839T>C n.3825T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756374A>T | CA392343244 | CEP152 | c.2874T>A (p.Ser958Arg) c.2595T>A (p.Ser865Arg) c.915T>A (p.Ser305Arg) c.909T>A (p.Ser303Arg) n.3839T>A n.3825T>A | |
15 | g.48756375C>A | CA392343245 | CEP152 | c.2873G>T (p.Ser958Ile) c.2594G>T (p.Ser865Ile) c.914G>T (p.Ser305Ile) c.908G>T (p.Ser303Ile) n.3838G>T n.3824G>T | |
15 | g.48756375C>G | CA392343247 | CEP152 | c.2873G>C (p.Ser958Thr) c.2594G>C (p.Ser865Thr) c.914G>C (p.Ser305Thr) c.908G>C (p.Ser303Thr) n.3838G>C n.3824G>C | |
15 | g.48756375C>T | CA392343246 | CEP152 | c.2873G>A (p.Ser958Asn) c.2594G>A (p.Ser865Asn) c.914G>A (p.Ser305Asn) c.908G>A (p.Ser303Asn) n.3838G>A n.3824G>A | |
15 | g.48756376T>A | CA392343248 | CEP152 | c.2872A>T (p.Ser958Cys) c.2593A>T (p.Ser865Cys) c.913A>T (p.Ser305Cys) c.907A>T (p.Ser303Cys) n.3837A>T n.3823A>T | |
15 | g.48756376T>C | CA392343249 | CEP152 | c.2872A>G (p.Ser958Gly) c.2593A>G (p.Ser865Gly) c.913A>G (p.Ser305Gly) c.907A>G (p.Ser303Gly) n.3837A>G n.3823A>G | |
15 | g.48756376T>G | CA392343250 | CEP152 | c.2872A>C (p.Ser958Arg) c.2593A>C (p.Ser865Arg) c.913A>C (p.Ser305Arg) c.907A>C (p.Ser303Arg) n.3837A>C n.3823A>C | gnomAD v4 |
15 | g.48756377C>A | CA490311341 | CEP152 | c.2871G>T (p.Arg957=) c.2592G>T (p.Arg864=) c.912G>T (p.Arg304=) c.906G>T (p.Arg302=) n.3836G>T n.3822G>T | |
15 | g.48756377C= | CA2175629165 | CEP152 | c.2871G= (p.Arg957=) c.2592G= (p.Arg864=) c.912G= (p.Arg304=) c.906G= (p.Arg302=) n.3836G= n.3822G= | |
15 | g.48756377C>G | CA490311340 | CEP152 | c.2871G>C (p.Arg957=) c.2592G>C (p.Arg864=) c.912G>C (p.Arg304=) c.906G>C (p.Arg302=) n.3836G>C n.3822G>C | COSMIC COSMIC |
15 | g.48756377C>T | CA7548451 | CEP152 | c.2871G>A (p.Arg957=) c.2592G>A (p.Arg864=) c.912G>A (p.Arg304=) c.906G>A (p.Arg302=) n.3836G>A n.3822G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756378C>A | CA392343251 | CEP152 | c.2870G>T (p.Arg957Leu) c.2591G>T (p.Arg864Leu) c.911G>T (p.Arg304Leu) c.905G>T (p.Arg302Leu) n.3835G>T n.3821G>T | |
15 | g.48756378C= | CA2175629168 | CEP152 | c.2870G= (p.Arg957=) c.2591G= (p.Arg864=) c.911G= (p.Arg304=) c.905G= (p.Arg302=) n.3835G= n.3821G= | |
15 | g.48756378C>G | CA392343252 | CEP152 | c.2870G>C (p.Arg957Pro) c.2591G>C (p.Arg864Pro) c.911G>C (p.Arg304Pro) c.905G>C (p.Arg302Pro) n.3835G>C n.3821G>C | |
15 | g.48756378C>T | CA7548452 | CEP152 | c.2870G>A (p.Arg957Gln) c.2591G>A (p.Arg864Gln) c.911G>A (p.Arg304Gln) c.905G>A (p.Arg302Gln) n.3835G>A n.3821G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756379G>A | CA7548453 | CEP152 | c.2869C>T (p.Arg957Trp) c.2590C>T (p.Arg864Trp) c.910C>T (p.Arg304Trp) c.904C>T (p.Arg302Trp) n.3834C>T n.3820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756379G>C | CA7548454 | CEP152 | c.2869C>G (p.Arg957Gly) c.2590C>G (p.Arg864Gly) c.910C>G (p.Arg304Gly) c.904C>G (p.Arg302Gly) n.3834C>G n.3820C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.48756379G= | CA2175629172 | CEP152 | c.2869C= (p.Arg957=) c.2590C= (p.Arg864=) c.910C= (p.Arg304=) c.904C= (p.Arg302=) n.3834C= n.3820C= | |
15 | g.48756379G>T | CA490311342 | CEP152 | c.2869C>A (p.Arg957=) c.2590C>A (p.Arg864=) c.910C>A (p.Arg304=) c.904C>A (p.Arg302=) n.3834C>A n.3820C>A | |
15 | g.48756380A>C | CA490311343 | CEP152 | c.2868T>G (p.Ala956=) c.2589T>G (p.Ala863=) c.909T>G (p.Ala303=) c.903T>G (p.Ala301=) n.3833T>G n.3819T>G | |
15 | g.48756380A>G | CA490311345 | CEP152 | c.2868T>C (p.Ala956=) c.2589T>C (p.Ala863=) c.909T>C (p.Ala303=) c.903T>C (p.Ala301=) n.3833T>C n.3819T>C | |
15 | g.48756380A>T | CA490311344 | CEP152 | c.2868T>A (p.Ala956=) c.2589T>A (p.Ala863=) c.909T>A (p.Ala303=) c.903T>A (p.Ala301=) n.3833T>A n.3819T>A | |
15 | g.48756381G>A | CA7548455 | CEP152 | c.2867C>T (p.Ala956Val) c.2588C>T (p.Ala863Val) c.908C>T (p.Ala303Val) c.902C>T (p.Ala301Val) n.3832C>T n.3818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756381G>C | CA392343253 | CEP152 | c.2867C>G (p.Ala956Gly) c.2588C>G (p.Ala863Gly) c.908C>G (p.Ala303Gly) c.902C>G (p.Ala301Gly) n.3832C>G n.3818C>G | |
15 | g.48756381G= | CA2175629179 | CEP152 | c.2867C= (p.Ala956=) c.2588C= (p.Ala863=) c.908C= (p.Ala303=) c.902C= (p.Ala301=) n.3832C= n.3818C= | |
15 | g.48756381G>T | CA392343254 | CEP152 | c.2867C>A (p.Ala956Asp) c.2588C>A (p.Ala863Asp) c.908C>A (p.Ala303Asp) c.902C>A (p.Ala301Asp) n.3832C>A n.3818C>A | |
15 | g.48756382C>A | CA7548456 | CEP152 | c.2866G>T (p.Ala956Ser) c.2587G>T (p.Ala863Ser) c.907G>T (p.Ala303Ser) c.901G>T (p.Ala301Ser) n.3831G>T n.3817G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756382C= | CA2175629184 | CEP152 | c.2866G= (p.Ala956=) c.2587G= (p.Ala863=) c.907G= (p.Ala303=) c.901G= (p.Ala301=) n.3831G= n.3817G= | |
15 | g.48756382C>G | CA392343256 | CEP152 | c.2866G>C (p.Ala956Pro) c.2587G>C (p.Ala863Pro) c.907G>C (p.Ala303Pro) c.901G>C (p.Ala301Pro) n.3831G>C n.3817G>C | |
15 | g.48756382C>T | CA392343255 | CEP152 | c.2866G>A (p.Ala956Thr) c.2587G>A (p.Ala863Thr) c.907G>A (p.Ala303Thr) c.901G>A (p.Ala301Thr) n.3831G>A n.3817G>A | |
15 | g.48756383C>A | CA392343257 | CEP152 | c.2865G>T (p.Lys955Asn) c.2586G>T (p.Lys862Asn) c.906G>T (p.Lys302Asn) c.900G>T (p.Lys300Asn) n.3830G>T n.3816G>T | |
15 | g.48756383C>G | CA392343258 | CEP152 | c.2865G>C (p.Lys955Asn) c.2586G>C (p.Lys862Asn) c.906G>C (p.Lys302Asn) c.900G>C (p.Lys300Asn) n.3830G>C n.3816G>C | |
15 | g.48756383C>T | CA490311346 | CEP152 | c.2865G>A (p.Lys955=) c.2586G>A (p.Lys862=) c.906G>A (p.Lys302=) c.900G>A (p.Lys300=) n.3830G>A n.3816G>A | |
15 | g.48756384T>A | CA7548457 | CEP152 | c.2864A>T (p.Lys955Met) c.2585A>T (p.Lys862Met) c.905A>T (p.Lys302Met) c.899A>T (p.Lys300Met) n.3829A>T n.3815A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756384T>C | CA392343259 | CEP152 | c.2864A>G (p.Lys955Arg) c.2585A>G (p.Lys862Arg) c.905A>G (p.Lys302Arg) c.899A>G (p.Lys300Arg) n.3829A>G n.3815A>G | |
15 | g.48756384T>G | CA269538144 | CEP152 | c.2864A>C (p.Lys955Thr) c.2585A>C (p.Lys862Thr) c.905A>C (p.Lys302Thr) c.899A>C (p.Lys300Thr) n.3829A>C n.3815A>C | dbSNP gnomAD v4 |
15 | g.48756384T= | CA2175629188 | CEP152 | c.2864A= (p.Lys955=) c.2585A= (p.Lys862=) c.905A= (p.Lys302=) c.899A= (p.Lys300=) n.3829A= n.3815A= | |
15 | g.48756385T>A | CA392343260 | CEP152 | c.2863A>T (p.Lys955Ter) c.2584A>T (p.Lys862Ter) c.904A>T (p.Lys302Ter) c.898A>T (p.Lys300Ter) n.3828A>T n.3814A>T | |
15 | g.48756385T>C | CA392343261 | CEP152 | c.2863A>G (p.Lys955Glu) c.2584A>G (p.Lys862Glu) c.904A>G (p.Lys302Glu) c.898A>G (p.Lys300Glu) n.3828A>G n.3814A>G | |
15 | g.48756385T>G | CA392343262 | CEP152 | c.2863A>C (p.Lys955Gln) c.2584A>C (p.Lys862Gln) c.904A>C (p.Lys302Gln) c.898A>C (p.Lys300Gln) n.3828A>C n.3814A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756385T= | CA2175629194 | CEP152 | c.2863A= (p.Lys955=) c.2584A= (p.Lys862=) c.904A= (p.Lys302=) c.898A= (p.Lys300=) n.3828A= n.3814A= | |
15 | g.48756385_48756388delinsTAGC | CA2175629196 | CEP152 | c.2860_2863delinsGCTA (p.Ala954=) c.2581_2584delinsGCTA (p.Ala861=) c.901_904delinsGCTA (p.Ala301=) c.895_898delinsGCTA (p.Ala299=) n.3825_3828delinsGCTA n.3811_3814delinsGCTA | |
15 | g.48756386A>C | CA490311347 | CEP152 | c.2862T>G (p.Ala954=) c.2583T>G (p.Ala861=) c.903T>G (p.Ala301=) c.897T>G (p.Ala299=) n.3827T>G n.3813T>G | |
15 | g.48756386A>G | CA490311348 | CEP152 | c.2862T>C (p.Ala954=) c.2583T>C (p.Ala861=) c.903T>C (p.Ala301=) c.897T>C (p.Ala299=) n.3827T>C n.3813T>C | ClinVar |
15 | g.48756386A>T | CA490311349 | CEP152 | c.2862T>A (p.Ala954=) c.2583T>A (p.Ala861=) c.903T>A (p.Ala301=) c.897T>A (p.Ala299=) n.3827T>A n.3813T>A | |
15 | g.48756386_48756388del | CA7548458 | CEP152 | c.2860_2862del (p.Ala954del) c.2581_2583del (p.Ala861del) c.901_903del (p.Ala301del) c.895_897del (p.Ala299del) n.3825_3827del n.3811_3813del | dbSNP ExAC gnomAD v2 |
15 | g.48756387G>A | CA392343263 | CEP152 | c.2861C>T (p.Ala954Val) c.2582C>T (p.Ala861Val) c.902C>T (p.Ala301Val) c.896C>T (p.Ala299Val) n.3826C>T n.3812C>T | |
15 | g.48756387G>C | CA392343264 | CEP152 | c.2861C>G (p.Ala954Gly) c.2582C>G (p.Ala861Gly) c.902C>G (p.Ala301Gly) c.896C>G (p.Ala299Gly) n.3826C>G n.3812C>G | |
15 | g.48756387G>T | CA392343265 | CEP152 | c.2861C>A (p.Ala954Asp) c.2582C>A (p.Ala861Asp) c.902C>A (p.Ala301Asp) c.896C>A (p.Ala299Asp) n.3826C>A n.3812C>A | |
15 | g.48756388C>A | CA392343268 | CEP152 | c.2860G>T (p.Ala954Ser) c.2581G>T (p.Ala861Ser) c.901G>T (p.Ala301Ser) c.895G>T (p.Ala299Ser) n.3825G>T n.3811G>T | gnomAD v4 |
15 | g.48756388C>G | CA392343267 | CEP152 | c.2860G>C (p.Ala954Pro) c.2581G>C (p.Ala861Pro) c.901G>C (p.Ala301Pro) c.895G>C (p.Ala299Pro) n.3825G>C n.3811G>C | |
15 | g.48756388C>T | CA392343266 | CEP152 | c.2860G>A (p.Ala954Thr) c.2581G>A (p.Ala861Thr) c.901G>A (p.Ala301Thr) c.895G>A (p.Ala299Thr) n.3825G>A n.3811G>A | |
15 | g.48756389T>A | CA392343269 | CEP152 | c.2859A>T (p.Leu953Phe) c.2580A>T (p.Leu860Phe) c.900A>T (p.Leu300Phe) c.894A>T (p.Leu298Phe) n.3824A>T n.3810A>T | |
15 | g.48756389T>C | CA490311350 | CEP152 | c.2859A>G (p.Leu953=) c.2580A>G (p.Leu860=) c.900A>G (p.Leu300=) c.894A>G (p.Leu298=) n.3824A>G n.3810A>G | |
15 | g.48756389T>G | CA392343270 | CEP152 | c.2859A>C (p.Leu953Phe) c.2580A>C (p.Leu860Phe) c.900A>C (p.Leu300Phe) c.894A>C (p.Leu298Phe) n.3824A>C n.3810A>C | |
15 | g.48756390A>C | CA392343271 | CEP152 | c.2858T>G (p.Leu953Ter) c.2579T>G (p.Leu860Ter) c.899T>G (p.Leu300Ter) c.893T>G (p.Leu298Ter) n.3823T>G n.3809T>G | |
15 | g.48756390A>G | CA392343272 | CEP152 | c.2858T>C (p.Leu953Ser) c.2579T>C (p.Leu860Ser) c.899T>C (p.Leu300Ser) c.893T>C (p.Leu298Ser) n.3823T>C n.3809T>C | gnomAD v4 |
15 | g.48756390A>T | CA392343273 | CEP152 | c.2858T>A (p.Leu953Ter) c.2579T>A (p.Leu860Ter) c.899T>A (p.Leu300Ter) c.893T>A (p.Leu298Ter) n.3823T>A n.3809T>A | |
15 | g.48756391A= | CA2175629203 | CEP152 | c.2857T= (p.Leu953=) c.2578T= (p.Leu860=) c.898T= (p.Leu300=) c.892T= (p.Leu298=) n.3822T= n.3808T= | |
15 | g.48756391A>C | CA392343274 | CEP152 | c.2857T>G (p.Leu953Val) c.2578T>G (p.Leu860Val) c.898T>G (p.Leu300Val) c.892T>G (p.Leu298Val) n.3822T>G n.3808T>G | |
15 | g.48756391A>G | CA7548459 | CEP152 | c.2857T>C (p.Leu953=) c.2578T>C (p.Leu860=) c.898T>C (p.Leu300=) c.892T>C (p.Leu298=) n.3822T>C n.3808T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756391A>T | CA392343275 | CEP152 | c.2857T>A (p.Leu953Ile) c.2578T>A (p.Leu860Ile) c.898T>A (p.Leu300Ile) c.892T>A (p.Leu298Ile) n.3822T>A n.3808T>A | |
15 | g.48756392C>A | CA392343277 | CEP152 | c.2856G>T (p.Glu952Asp) c.2577G>T (p.Glu859Asp) c.897G>T (p.Glu299Asp) c.891G>T (p.Glu297Asp) n.3821G>T n.3807G>T | |
15 | g.48756392C>G | CA392343276 | CEP152 | c.2856G>C (p.Glu952Asp) c.2577G>C (p.Glu859Asp) c.897G>C (p.Glu299Asp) c.891G>C (p.Glu297Asp) n.3821G>C n.3807G>C | |
15 | g.48756392C>T | CA490311351 | CEP152 | c.2856G>A (p.Glu952=) c.2577G>A (p.Glu859=) c.897G>A (p.Glu299=) c.891G>A (p.Glu297=) n.3821G>A n.3807G>A | gnomAD v4 |
15 | g.48756393T>A | CA7548460 | CEP152 | c.2855A>T (p.Glu952Val) c.2576A>T (p.Glu859Val) c.896A>T (p.Glu299Val) c.890A>T (p.Glu297Val) n.3820A>T n.3806A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756393T>C | CA392343278 | CEP152 | c.2855A>G (p.Glu952Gly) c.2576A>G (p.Glu859Gly) c.896A>G (p.Glu299Gly) c.890A>G (p.Glu297Gly) n.3820A>G n.3806A>G | |
15 | g.48756393T>G | CA392343279 | CEP152 | c.2855A>C (p.Glu952Ala) c.2576A>C (p.Glu859Ala) c.896A>C (p.Glu299Ala) c.890A>C (p.Glu297Ala) n.3820A>C n.3806A>C | |
15 | g.48756393T= | CA2175629206 | CEP152 | c.2855A= (p.Glu952=) c.2576A= (p.Glu859=) c.896A= (p.Glu299=) c.890A= (p.Glu297=) n.3820A= n.3806A= | |
15 | g.48756394C>A | CA392343280 | CEP152 | c.2854G>T (p.Glu952Ter) c.2575G>T (p.Glu859Ter) c.895G>T (p.Glu299Ter) c.889G>T (p.Glu297Ter) n.3819G>T n.3805G>T | |
15 | g.48756394C>G | CA392343281 | CEP152 | c.2854G>C (p.Glu952Gln) c.2575G>C (p.Glu859Gln) c.895G>C (p.Glu299Gln) c.889G>C (p.Glu297Gln) n.3819G>C n.3805G>C | |
15 | g.48756394C>T | CA392343282 | CEP152 | c.2854G>A (p.Glu952Lys) c.2575G>A (p.Glu859Lys) c.895G>A (p.Glu299Lys) c.889G>A (p.Glu297Lys) n.3819G>A n.3805G>A | gnomAD v4 |
15 | g.48756395A>C | CA490311352 | CEP152 | c.2853T>G (p.Ala951=) c.2574T>G (p.Ala858=) c.894T>G (p.Ala298=) c.888T>G (p.Ala296=) n.3818T>G n.3804T>G | |
15 | g.48756395A>G | CA490311353 | CEP152 | c.2853T>C (p.Ala951=) c.2574T>C (p.Ala858=) c.894T>C (p.Ala298=) c.888T>C (p.Ala296=) n.3818T>C n.3804T>C | |
15 | g.48756395A>T | CA490311354 | CEP152 | c.2853T>A (p.Ala951=) c.2574T>A (p.Ala858=) c.894T>A (p.Ala298=) c.888T>A (p.Ala296=) n.3818T>A n.3804T>A | |
15 | g.48756396G>A | CA392343283 | CEP152 | c.2852C>T (p.Ala951Val) c.2573C>T (p.Ala858Val) c.893C>T (p.Ala298Val) c.887C>T (p.Ala296Val) n.3817C>T n.3803C>T | |
15 | g.48756396G>C | CA392343285 | CEP152 | c.2852C>G (p.Ala951Gly) c.2573C>G (p.Ala858Gly) c.893C>G (p.Ala298Gly) c.887C>G (p.Ala296Gly) n.3817C>G n.3803C>G | |
15 | g.48756396G>T | CA392343284 | CEP152 | c.2852C>A (p.Ala951Asp) c.2573C>A (p.Ala858Asp) c.893C>A (p.Ala298Asp) c.887C>A (p.Ala296Asp) n.3817C>A n.3803C>A | |
15 | g.48756397C>A | CA392343286 | CEP152 | c.2851G>T (p.Ala951Ser) c.2572G>T (p.Ala858Ser) c.892G>T (p.Ala298Ser) c.886G>T (p.Ala296Ser) n.3816G>T n.3802G>T | gnomAD v4 |
15 | g.48756397C= | CA2175629208 | CEP152 | c.2851G= (p.Ala951=) c.2572G= (p.Ala858=) c.892G= (p.Ala298=) c.886G= (p.Ala296=) n.3816G= n.3802G= | |
15 | g.48756397C>G | CA392343287 | CEP152 | c.2851G>C (p.Ala951Pro) c.2572G>C (p.Ala858Pro) c.892G>C (p.Ala298Pro) c.886G>C (p.Ala296Pro) n.3816G>C n.3802G>C | |
15 | g.48756397C>T | CA7548461 | CEP152 | c.2851G>A (p.Ala951Thr) c.2572G>A (p.Ala858Thr) c.892G>A (p.Ala298Thr) c.886G>A (p.Ala296Thr) n.3816G>A n.3802G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756398C>A | CA392343288 | CEP152 | c.2850G>T (p.Arg950Ser) c.2571G>T (p.Arg857Ser) c.891G>T (p.Arg297Ser) c.885G>T (p.Arg295Ser) n.3815G>T n.3801G>T | |
15 | g.48756398C>G | CA392343289 | CEP152 | c.2850G>C (p.Arg950Ser) c.2571G>C (p.Arg857Ser) c.891G>C (p.Arg297Ser) c.885G>C (p.Arg295Ser) n.3815G>C n.3801G>C | |
15 | g.48756398C>T | CA490311355 | CEP152 | c.2850G>A (p.Arg950=) c.2571G>A (p.Arg857=) c.891G>A (p.Arg297=) c.885G>A (p.Arg295=) n.3815G>A n.3801G>A | gnomAD v4 |