Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50729870dupCA129325NOD2c.*52dup (n.*52dup)
c.*703dup (n.*703dup)
n.2416dup
c.2938dup (p.Leu980ProfsTer2)
c.3019dup (p.Leu1007ProfsTer2)
c.2854dup (p.Leu952ProfsTer2)
c.2515dup (p.Leu839ProfsTer2)
c.2353dup (p.Leu785ProfsTer2)
c.2446dup (p.Leu816ProfsTer2)
n.3150dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50729870delCA721363865NOD2c.*52del (n.*52del)
c.*703del (n.*703del)
n.2416del
c.2938del (p.Glu981LysfsTer18)
c.3019del (p.Glu1008LysfsTer18)
c.2854del (p.Glu953LysfsTer18)
c.2515del (p.Glu840LysfsTer18)
c.2353del (p.Glu786LysfsTer18)
c.2446del (p.Glu817LysfsTer18)
n.3150del
dbSNP
16g.50729870C>ACA395876835NOD2c.*52C>A (n.*52C>A)
c.*703C>A (n.*703C>A)
n.2416C>A
c.2938C>A (p.Leu980Ile)
c.3019C>A (p.Leu1007Ile)
c.2854C>A (p.Leu952Ile)
c.2515C>A (p.Leu839Ile)
c.2353C>A (p.Leu785Ile)
c.2446C>A (p.Leu816Ile)
n.3150C>A
16g.50729870C=CA2221867214NOD2c.*52C= (n.*52C=)
c.*703C= (n.*703C=)
n.2416C=
c.2938C= (p.Leu980=)
c.3019C= (p.Leu1007=)
c.2854C= (p.Leu952=)
c.2515C= (p.Leu839=)
c.2353C= (p.Leu785=)
c.2446C= (p.Leu816=)
n.3150C=
16g.50729870C>GCA395876837NOD2c.*52C>G (n.*52C>G)
c.*703C>G (n.*703C>G)
n.2416C>G
c.2938C>G (p.Leu980Val)
c.3019C>G (p.Leu1007Val)
c.2854C>G (p.Leu952Val)
c.2515C>G (p.Leu839Val)
c.2353C>G (p.Leu785Val)
c.2446C>G (p.Leu816Val)
n.3150C>G
dbSNP
16g.50729870C>TCA8052048NOD2c.*52C>T (n.*52C>T)
c.*703C>T (n.*703C>T)
n.2416C>T
c.2938C>T (p.Leu980Phe)
c.3019C>T (p.Leu1007Phe)
c.2854C>T (p.Leu952Phe)
c.2515C>T (p.Leu839Phe)
c.2353C>T (p.Leu785Phe)
c.2446C>T (p.Leu816Phe)
n.3150C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50729870_50729871delinsCTCA2221867215NOD2c.*52_*53delinsCT (n.*52_*53delinsCT)
c.*703_*704delinsCT (n.*703_*704delinsCT)
n.2416_2417delinsCT
c.2938_2939delinsCT (p.Leu980=)
c.3019_3020delinsCT (p.Leu1007=)
c.2854_2855delinsCT (p.Leu952=)
c.2515_2516delinsCT (p.Leu839=)
c.2353_2354delinsCT (p.Leu785=)
c.2446_2447delinsCT (p.Leu816=)
n.3150_3151delinsCT
16g.50729871T>ACA395876839NOD2c.*53T>A (n.*53T>A)
c.*704T>A (n.*704T>A)
n.2417T>A
c.2939T>A (p.Leu980His)
c.3020T>A (p.Leu1007His)
c.2855T>A (p.Leu952His)
c.2516T>A (p.Leu839His)
c.2354T>A (p.Leu785His)
c.2447T>A (p.Leu816His)
n.3151T>A
16g.50729871T>CCA395876841NOD2c.*53T>C (n.*53T>C)
c.*704T>C (n.*704T>C)
n.2417T>C
c.2939T>C (p.Leu980Pro)
c.3020T>C (p.Leu1007Pro)
c.2855T>C (p.Leu952Pro)
c.2516T>C (p.Leu839Pro)
c.2354T>C (p.Leu785Pro)
c.2447T>C (p.Leu816Pro)
n.3151T>C
dbSNP
16g.50729871T>GCA395876843NOD2c.*53T>G (n.*53T>G)
c.*704T>G (n.*704T>G)
n.2417T>G
c.2939T>G (p.Leu980Arg)
c.3020T>G (p.Leu1007Arg)
c.2855T>G (p.Leu952Arg)
c.2516T>G (p.Leu839Arg)
c.2354T>G (p.Leu785Arg)
c.2447T>G (p.Leu816Arg)
n.3151T>G
16g.50729871T=CA2221867216NOD2c.*53T= (n.*53T=)
c.*704T= (n.*704T=)
n.2417T=
c.2939T= (p.Leu980=)
c.3020T= (p.Leu1007=)
c.2855T= (p.Leu952=)
c.2516T= (p.Leu839=)
c.2354T= (p.Leu785=)
c.2447T= (p.Leu816=)
n.3151T=
16g.50729872delCA919705420NOD2c.*54del (n.*54del)
c.*705del (n.*705del)
n.2418del
c.2940del (p.Glu981LysfsTer18)
c.3021del (p.Glu1008LysfsTer18)
c.2856del (p.Glu953LysfsTer18)
c.2517del (p.Glu840LysfsTer18)
c.2355del (p.Glu786LysfsTer18)
c.2448del (p.Glu817LysfsTer18)
n.3152del
dbSNP
16g.50729871_50729872insCCA495479268NOD2c.*53_*54insC (n.*53_*54insC)
c.*704_*705insC (n.*704_*705insC)
n.2417_2418insC
c.2939_2940insC (p.Glu981Ter)
c.3020_3021insC (p.Glu1008Ter)
c.2855_2856insC (p.Glu953Ter)
c.2516_2517insC (p.Glu840Ter)
c.2354_2355insC (p.Glu786Ter)
c.2447_2448insC (p.Glu817Ter)
n.3151_3152insC
16g.50729872T>ACA495479274NOD2c.*54T>A (n.*54T>A)
c.*705T>A (n.*705T>A)
n.2418T>A
c.2940T>A (p.Leu980=)
c.3021T>A (p.Leu1007=)
c.2856T>A (p.Leu952=)
c.2517T>A (p.Leu839=)
c.2355T>A (p.Leu785=)
c.2448T>A (p.Leu816=)
n.3152T>A
16g.50729872T>CCA495479276NOD2c.*54T>C (n.*54T>C)
c.*705T>C (n.*705T>C)
n.2418T>C
c.2940T>C (p.Leu980=)
c.3021T>C (p.Leu1007=)
c.2856T>C (p.Leu952=)
c.2517T>C (p.Leu839=)
c.2355T>C (p.Leu785=)
c.2448T>C (p.Leu816=)
n.3152T>C
dbSNP
16g.50729872T>GCA281283401NOD2c.*54T>G (n.*54T>G)
c.*705T>G (n.*705T>G)
n.2418T>G
c.2940T>G (p.Leu980=)
c.3021T>G (p.Leu1007=)
c.2856T>G (p.Leu952=)
c.2517T>G (p.Leu839=)
c.2355T>G (p.Leu785=)
c.2448T>G (p.Leu816=)
n.3152T>G
dbSNP
16g.50729872T=CA2221867217NOD2c.*54T= (n.*54T=)
c.*705T= (n.*705T=)
n.2418T=
c.2940T= (p.Leu980=)
c.3021T= (p.Leu1007=)
c.2856T= (p.Leu952=)
c.2517T= (p.Leu839=)
c.2355T= (p.Leu785=)
c.2448T= (p.Leu816=)
n.3152T=
16g.50729873G>ACA395876850NOD2c.*55G>A (n.*55G>A)
c.*706G>A (n.*706G>A)
n.2419G>A
c.2941G>A (p.Glu981Lys)
c.3022G>A (p.Glu1008Lys)
c.2857G>A (p.Glu953Lys)
c.2518G>A (p.Glu840Lys)
c.2356G>A (p.Glu786Lys)
c.2449G>A (p.Glu817Lys)
n.3153G>A
16g.50729873G>CCA395876849NOD2c.*55G>C (n.*55G>C)
c.*706G>C (n.*706G>C)
n.2419G>C
c.2941G>C (p.Glu981Gln)
c.3022G>C (p.Glu1008Gln)
c.2857G>C (p.Glu953Gln)
c.2518G>C (p.Glu840Gln)
c.2356G>C (p.Glu786Gln)
c.2449G>C (p.Glu817Gln)
n.3153G>C
gnomAD v4
16g.50729873G>TCA395876847NOD2c.*55G>T (n.*55G>T)
c.*706G>T (n.*706G>T)
n.2419G>T
c.2941G>T (p.Glu981Ter)
c.3022G>T (p.Glu1008Ter)
c.2857G>T (p.Glu953Ter)
c.2518G>T (p.Glu840Ter)
c.2356G>T (p.Glu786Ter)
c.2449G>T (p.Glu817Ter)
n.3153G>T
16g.50729874A>CCA395876852NOD2c.*56A>C (n.*56A>C)
c.*707A>C (n.*707A>C)
n.2420A>C
c.2942A>C (p.Glu981Ala)
c.3023A>C (p.Glu1008Ala)
c.2858A>C (p.Glu953Ala)
c.2519A>C (p.Glu840Ala)
c.2357A>C (p.Glu786Ala)
c.2450A>C (p.Glu817Ala)
n.3154A>C
16g.50729874A>GCA395876856NOD2c.*56A>G (n.*56A>G)
c.*707A>G (n.*707A>G)
n.2420A>G
c.2942A>G (p.Glu981Gly)
c.3023A>G (p.Glu1008Gly)
c.2858A>G (p.Glu953Gly)
c.2519A>G (p.Glu840Gly)
c.2357A>G (p.Glu786Gly)
c.2450A>G (p.Glu817Gly)
n.3154A>G
16g.50729874A>TCA395876853NOD2c.*56A>T (n.*56A>T)
c.*707A>T (n.*707A>T)
n.2420A>T
c.2942A>T (p.Glu981Val)
c.3023A>T (p.Glu1008Val)
c.2858A>T (p.Glu953Val)
c.2519A>T (p.Glu840Val)
c.2357A>T (p.Glu786Val)
c.2450A>T (p.Glu817Val)
n.3154A>T
16g.50729875A>CCA395876857NOD2c.*57A>C (n.*57A>C)
c.*708A>C (n.*708A>C)
n.2421A>C
c.2943A>C (p.Glu981Asp)
c.3024A>C (p.Glu1008Asp)
c.2859A>C (p.Glu953Asp)
c.2520A>C (p.Glu840Asp)
c.2358A>C (p.Glu786Asp)
c.2451A>C (p.Glu817Asp)
n.3155A>C
16g.50729875A>GCA495479288NOD2c.*57A>G (n.*57A>G)
c.*708A>G (n.*708A>G)
n.2421A>G
c.2943A>G (p.Glu981=)
c.3024A>G (p.Glu1008=)
c.2859A>G (p.Glu953=)
c.2520A>G (p.Glu840=)
c.2358A>G (p.Glu786=)
c.2451A>G (p.Glu817=)
n.3155A>G
16g.50729875A>TCA395876859NOD2c.*57A>T (n.*57A>T)
c.*708A>T (n.*708A>T)
n.2421A>T
c.2943A>T (p.Glu981Asp)
c.3024A>T (p.Glu1008Asp)
c.2859A>T (p.Glu953Asp)
c.2520A>T (p.Glu840Asp)
c.2358A>T (p.Glu786Asp)
c.2451A>T (p.Glu817Asp)
n.3155A>T
16g.50729876A=CA2221867218NOD2c.*58A= (n.*58A=)
c.*709A= (n.*709A=)
n.2422A=
c.2944A= (p.Arg982=)
c.3025A= (p.Arg1009=)
c.2860A= (p.Arg954=)
c.2521A= (p.Arg841=)
c.2359A= (p.Arg787=)
c.2452A= (p.Arg818=)
n.3156A=
16g.50729876A>CCA495479290NOD2c.*58A>C (n.*58A>C)
c.*709A>C (n.*709A>C)
n.2422A>C
c.2944A>C (p.Arg982=)
c.3025A>C (p.Arg1009=)
c.2860A>C (p.Arg954=)
c.2521A>C (p.Arg841=)
c.2359A>C (p.Arg787=)
c.2452A>C (p.Arg818=)
n.3156A>C
16g.50729876A>GCA8052049NOD2c.*58A>G (n.*58A>G)
c.*709A>G (n.*709A>G)
n.2422A>G
c.2944A>G (p.Arg982Gly)
c.3025A>G (p.Arg1009Gly)
c.2860A>G (p.Arg954Gly)
c.2521A>G (p.Arg841Gly)
c.2359A>G (p.Arg787Gly)
c.2452A>G (p.Arg818Gly)
n.3156A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50729876A>TCA395876862NOD2c.*58A>T (n.*58A>T)
c.*709A>T (n.*709A>T)
n.2422A>T
c.2944A>T (p.Arg982Trp)
c.3025A>T (p.Arg1009Trp)
c.2860A>T (p.Arg954Trp)
c.2521A>T (p.Arg841Trp)
c.2359A>T (p.Arg787Trp)
c.2452A>T (p.Arg818Trp)
n.3156A>T
16g.50729877G>ACA395876864NOD2c.*59G>A (n.*59G>A)
c.*710G>A (n.*710G>A)
n.2423G>A
c.2945G>A (p.Arg982Lys)
c.3026G>A (p.Arg1009Lys)
c.2861G>A (p.Arg954Lys)
c.2522G>A (p.Arg841Lys)
c.2360G>A (p.Arg787Lys)
c.2453G>A (p.Arg818Lys)
n.3157G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.50729877G>CCA395876866NOD2c.*59G>C (n.*59G>C)
c.*710G>C (n.*710G>C)
n.2423G>C
c.2945G>C (p.Arg982Thr)
c.3026G>C (p.Arg1009Thr)
c.2861G>C (p.Arg954Thr)
c.2522G>C (p.Arg841Thr)
c.2360G>C (p.Arg787Thr)
c.2453G>C (p.Arg818Thr)
n.3157G>C
16g.50729877G=CA2221867219NOD2c.*59G= (n.*59G=)
c.*710G= (n.*710G=)
n.2423G=
c.2945G= (p.Arg982=)
c.3026G= (p.Arg1009=)
c.2861G= (p.Arg954=)
c.2522G= (p.Arg841=)
c.2360G= (p.Arg787=)
c.2453G= (p.Arg818=)
n.3157G=
16g.50729877G>TCA395876868NOD2c.*59G>T (n.*59G>T)
c.*710G>T (n.*710G>T)
n.2423G>T
c.2945G>T (p.Arg982Met)
c.3026G>T (p.Arg1009Met)
c.2861G>T (p.Arg954Met)
c.2522G>T (p.Arg841Met)
c.2360G>T (p.Arg787Met)
c.2453G>T (p.Arg818Met)
n.3157G>T
dbSNP
16g.50729878G>ACA495479299NOD2c.*60G>A (n.*60G>A)
c.*711G>A (n.*711G>A)
n.2424G>A
c.2946G>A (p.Arg982=)
c.3027G>A (p.Arg1009=)
c.2862G>A (p.Arg954=)
c.2523G>A (p.Arg841=)
c.2361G>A (p.Arg787=)
c.2454G>A (p.Arg818=)
n.3158G>A
COSMIC
16g.50729878G>CCA395876869NOD2c.*60G>C (n.*60G>C)
c.*711G>C (n.*711G>C)
n.2424G>C
c.2946G>C (p.Arg982Ser)
c.3027G>C (p.Arg1009Ser)
c.2862G>C (p.Arg954Ser)
c.2523G>C (p.Arg841Ser)
c.2361G>C (p.Arg787Ser)
c.2454G>C (p.Arg818Ser)
n.3158G>C
16g.50729878G>TCA395876871NOD2c.*60G>T (n.*60G>T)
c.*711G>T (n.*711G>T)
n.2424G>T
c.2946G>T (p.Arg982Ser)
c.3027G>T (p.Arg1009Ser)
c.2862G>T (p.Arg954Ser)
c.2523G>T (p.Arg841Ser)
c.2361G>T (p.Arg787Ser)
c.2454G>T (p.Arg818Ser)
n.3158G>T
16g.50729879A>CCA395876873NOD2c.*61A>C (n.*61A>C)
c.*712A>C (n.*712A>C)
n.2425A>C
c.2947A>C (p.Asn983His)
c.3028A>C (p.Asn1010His)
c.2863A>C (p.Asn955His)
c.2524A>C (p.Asn842His)
c.2362A>C (p.Asn788His)
c.2455A>C (p.Asn819His)
n.3159A>C
16g.50729879A>GCA395876874NOD2c.*61A>G (n.*61A>G)
c.*712A>G (n.*712A>G)
n.2425A>G
c.2947A>G (p.Asn983Asp)
c.3028A>G (p.Asn1010Asp)
c.2863A>G (p.Asn955Asp)
c.2524A>G (p.Asn842Asp)
c.2362A>G (p.Asn788Asp)
c.2455A>G (p.Asn819Asp)
n.3159A>G
16g.50729879A>TCA395876876NOD2c.*61A>T (n.*61A>T)
c.*712A>T (n.*712A>T)
n.2425A>T
c.2947A>T (p.Asn983Tyr)
c.3028A>T (p.Asn1010Tyr)
c.2863A>T (p.Asn955Tyr)
c.2524A>T (p.Asn842Tyr)
c.2362A>T (p.Asn788Tyr)
c.2455A>T (p.Asn819Tyr)
n.3159A>T
16g.50729880A=CA2221867220NOD2c.*62A= (n.*62A=)
c.*713A= (n.*713A=)
n.2426A=
c.2948A= (p.Asn983=)
c.3029A= (p.Asn1010=)
c.2864A= (p.Asn955=)
c.2525A= (p.Asn842=)
c.2363A= (p.Asn788=)
c.2456A= (p.Asn819=)
n.3160A=
16g.50729880A>CCA395876882NOD2c.*62A>C (n.*62A>C)
c.*713A>C (n.*713A>C)
n.2426A>C
c.2948A>C (p.Asn983Thr)
c.3029A>C (p.Asn1010Thr)
c.2864A>C (p.Asn955Thr)
c.2525A>C (p.Asn842Thr)
c.2363A>C (p.Asn788Thr)
c.2456A>C (p.Asn819Thr)
n.3160A>C
16g.50729880A>GCA8052050NOD2c.*62A>G (n.*62A>G)
c.*713A>G (n.*713A>G)
n.2426A>G
c.2948A>G (p.Asn983Ser)
c.3029A>G (p.Asn1010Ser)
c.2864A>G (p.Asn955Ser)
c.2525A>G (p.Asn842Ser)
c.2363A>G (p.Asn788Ser)
c.2456A>G (p.Asn819Ser)
n.3160A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50729880A>TCA395876880NOD2c.*62A>T (n.*62A>T)
c.*713A>T (n.*713A>T)
n.2426A>T
c.2948A>T (p.Asn983Ile)
c.3029A>T (p.Asn1010Ile)
c.2864A>T (p.Asn955Ile)
c.2525A>T (p.Asn842Ile)
c.2363A>T (p.Asn788Ile)
c.2456A>T (p.Asn819Ile)
n.3160A>T
16g.50729881T>ACA395876884NOD2c.*63T>A (n.*63T>A)
c.*714T>A (n.*714T>A)
n.2427T>A
c.2949T>A (p.Asn983Lys)
c.3030T>A (p.Asn1010Lys)
c.2865T>A (p.Asn955Lys)
c.2526T>A (p.Asn842Lys)
c.2364T>A (p.Asn788Lys)
c.2457T>A (p.Asn819Lys)
n.3161T>A
16g.50729881T>CCA495479314NOD2c.*63T>C (n.*63T>C)
c.*714T>C (n.*714T>C)
n.2427T>C
c.2949T>C (p.Asn983=)
c.3030T>C (p.Asn1010=)
c.2865T>C (p.Asn955=)
c.2526T>C (p.Asn842=)
c.2364T>C (p.Asn788=)
c.2457T>C (p.Asn819=)
n.3161T>C
16g.50729881T>GCA395876886NOD2c.*63T>G (n.*63T>G)
c.*714T>G (n.*714T>G)
n.2427T>G
c.2949T>G (p.Asn983Lys)
c.3030T>G (p.Asn1010Lys)
c.2865T>G (p.Asn955Lys)
c.2526T>G (p.Asn842Lys)
c.2364T>G (p.Asn788Lys)
c.2457T>G (p.Asn819Lys)
n.3161T>G
gnomAD v4
16g.50729882G>ACA395876887NOD2c.*64G>A (n.*64G>A)
c.*715G>A (n.*715G>A)
n.2428G>A
c.2950G>A (p.Asp984Asn)
c.3031G>A (p.Asp1011Asn)
c.2866G>A (p.Asp956Asn)
c.2527G>A (p.Asp843Asn)
c.2365G>A (p.Asp789Asn)
c.2458G>A (p.Asp820Asn)
n.3162G>A
16g.50729882G>CCA395876889NOD2c.*64G>C (n.*64G>C)
c.*715G>C (n.*715G>C)
n.2428G>C
c.2950G>C (p.Asp984His)
c.3031G>C (p.Asp1011His)
c.2866G>C (p.Asp956His)
c.2527G>C (p.Asp843His)
c.2365G>C (p.Asp789His)
c.2458G>C (p.Asp820His)
n.3162G>C
gnomAD v4
16g.50729882G>TCA395876891NOD2c.*64G>T (n.*64G>T)
c.*715G>T (n.*715G>T)
n.2428G>T
c.2950G>T (p.Asp984Tyr)
c.3031G>T (p.Asp1011Tyr)
c.2866G>T (p.Asp956Tyr)
c.2527G>T (p.Asp843Tyr)
c.2365G>T (p.Asp789Tyr)
c.2458G>T (p.Asp820Tyr)
n.3162G>T
gnomAD v4

Number of alleles fetched