Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.60371263A>GCA2642029251MC4Rc.*88T>C (n.*88T>C)
gnomAD v4
18g.60371266G>TCA2576516471MC4Rc.*85C>A (n.*85C>A)
gnomAD v4
18g.60371267C>TCA2642029252MC4Rc.*84G>A (n.*84G>A)
gnomAD v4
18g.60371269G>ACA630310762MC4Rc.*82C>T (n.*82C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371269G>CCA2307358866MC4Rc.*82C>G (n.*82C>G)
dbSNP
18g.60371269G=CA2307358865MC4Rc.*82C= (n.*82C=)
18g.60371269G>TCA2642029253MC4Rc.*82C>A (n.*82C>A)
gnomAD v4
18g.60371270T>CCA2642029254MC4Rc.*81A>G (n.*81A>G)
gnomAD v4
18g.60371272G>TCA2642029255MC4Rc.*79C>A (n.*79C>A)
gnomAD v4
18g.60371273C=CA2307358867MC4Rc.*78G= (n.*78G=)
18g.60371273C>TCA301529991MC4Rc.*78G>A (n.*78G>A)
dbSNP gnomAD v3 gnomAD v4
18g.60371275G>CCA2642029256MC4Rc.*76C>G (n.*76C>G)
gnomAD v4
18g.60371275G>TCA2642029257MC4Rc.*76C>A (n.*76C>A)
gnomAD v4
18g.60371276A>TCA2576516472MC4Rc.*75T>A (n.*75T>A)
18g.60371277delCA2595365598MC4Rc.*75del (n.*75del)
gnomAD v3 gnomAD v4
18g.60371277A>GCA2642029258MC4Rc.*74T>C (n.*74T>C)
gnomAD v4
18g.60371278G>ACA301529992MC4Rc.*73C>T (n.*73C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371278G=CA2307358868MC4Rc.*73C= (n.*73C=)
18g.60371278G>TCA2576516473MC4Rc.*73C>A (n.*73C>A)
gnomAD v4
18g.60371280A>GCA2642029259MC4Rc.*71T>C (n.*71T>C)
gnomAD v4
18g.60371280A>TCA2642029260MC4Rc.*71T>A (n.*71T>A)
gnomAD v4
18g.60371281C>ACA657277935MC4Rc.*70G>T (n.*70G>T)
gnomAD v4 COSMIC
18g.60371281C=CA2307358869MC4Rc.*70G= (n.*70G=)
18g.60371281C>GCA2642029261MC4Rc.*70G>C (n.*70G>C)
gnomAD v4
18g.60371281C>TCA301529993MC4Rc.*70G>A (n.*70G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371282A>GCA2642029262MC4Rc.*69T>C (n.*69T>C)
gnomAD v4
18g.60371284T>CCA2642029263MC4Rc.*67A>G (n.*67A>G)
gnomAD v4
18g.60371285A>GCA2576516474MC4Rc.*66T>C (n.*66T>C)
gnomAD v4
18g.60371286T>ACA301529994MC4Rc.*65A>T (n.*65A>T)
dbSNP gnomAD v3 gnomAD v4
18g.60371286T>CCA2576516475MC4Rc.*65A>G (n.*65A>G)
18g.60371286T=CA2307358870MC4Rc.*65A= (n.*65A=)
18g.60371287T>GCA990922110MC4Rc.*64A>C (n.*64A>C)
dbSNP gnomAD v3 gnomAD v4
18g.60371287T=CA2307358871MC4Rc.*64A= (n.*64A=)
18g.60371288C>ACA2642029264MC4Rc.*63G>T (n.*63G>T)
gnomAD v4
18g.60371288C>GCA2576516476MC4Rc.*63G>C (n.*63G>C)
gnomAD v4
18g.60371289A=CA2307358872MC4Rc.*62T= (n.*62T=)
18g.60371289A>CCA2576516477MC4Rc.*62T>G (n.*62T>G)
18g.60371289A>GCA2642029265MC4Rc.*62T>C (n.*62T>C)
gnomAD v4
18g.60371289A>TCA301529995MC4Rc.*62T>A (n.*62T>A)
dbSNP gnomAD v4
18g.60371290G>ACA2642029266MC4Rc.*61C>T (n.*61C>T)
gnomAD v4
18g.60371290G>TCA2642029267MC4Rc.*61C>A (n.*61C>A)
gnomAD v4
18g.60371291G>ACA301529996MC4Rc.*60C>T (n.*60C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371291G=CA2307358873MC4Rc.*60C= (n.*60C=)
18g.60371291G>TCA2642029268MC4Rc.*60C>A (n.*60C>A)
gnomAD v4
18g.60371292T>CCA2642029270MC4Rc.*59A>G (n.*59A>G)
gnomAD v4
18g.60371292T>GCA504304895MC4Rc.*59A>C (n.*59A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371292T=CA2307358874MC4Rc.*59A= (n.*59A=)
18g.60371292dupCA2642029269MC4Rc.*59dup (n.*59dup)
gnomAD v4
18g.60371293A>GCA2642029271MC4Rc.*58T>C (n.*58T>C)
gnomAD v4
18g.60371294G>CCA2642029272MC4Rc.*57C>G (n.*57C>G)
gnomAD v4
18g.60371294G>TCA2576516478MC4Rc.*57C>A (n.*57C>A)
gnomAD v4
18g.60371295G>TCA2576516479MC4Rc.*56C>A (n.*56C>A)
gnomAD v4
18g.60371296G>CCA2642029273MC4Rc.*55C>G (n.*55C>G)
gnomAD v4
18g.60371296G>TCA2576516480MC4Rc.*55C>A (n.*55C>A)
gnomAD v4
18g.60371297dupCA2642029274MC4Rc.*54dup (n.*54dup)
gnomAD v4
18g.60371299A=CA2307358875MC4Rc.*52T= (n.*52T=)
18g.60371299A>GCA781080714MC4Rc.*52T>C (n.*52T>C)
dbSNP gnomAD v3 gnomAD v4
18g.60371300G>TCA2576516481MC4Rc.*51C>A (n.*51C>A)
gnomAD v4
18g.60371301A=CA2307358876MC4Rc.*50T= (n.*50T=)
18g.60371301A>GCA8980782MC4Rc.*50T>C (n.*50T>C)
dbSNP ExAC
18g.60371301A>TCA2642029275MC4Rc.*50T>A (n.*50T>A)
gnomAD v4
18g.60371302G>ACA630399107MC4Rc.*49C>T (n.*49C>T)
dbSNP gnomAD v2 gnomAD v4
18g.60371302G=CA2307358877MC4Rc.*49C= (n.*49C=)
18g.60371302G>TCA2642029276MC4Rc.*49C>A (n.*49C>A)
gnomAD v4
18g.60371303T=CA2307358878MC4Rc.*48A= (n.*48A=)
18g.60371304G>ACA630399110MC4Rc.*47C>T (n.*47C>T)
dbSNP gnomAD v2 gnomAD v4
18g.60371304G>CCA630399109MC4Rc.*47C>G (n.*47C>G)
dbSNP gnomAD v2 gnomAD v4
18g.60371304G=CA2307358879MC4Rc.*47C= (n.*47C=)
18g.60371304G>TCA2642029277MC4Rc.*47C>A (n.*47C>A)
gnomAD v4
18g.60371304dupCA630399108MC4Rc.*47dup (n.*47dup)
dbSNP gnomAD v2 gnomAD v4
18g.60371305A>GCA2642029278MC4Rc.*46T>C (n.*46T>C)
gnomAD v4
18g.60371309delCA2595365599MC4Rc.*46del (n.*46del)
dbSNP gnomAD v3 gnomAD v4
18g.60371308A=CA2307358880MC4Rc.*43T= (n.*43T=)
18g.60371308A>CCA630399111MC4Rc.*43T>G (n.*43T>G)
dbSNP gnomAD v2
18g.60371309A=CA2307358881MC4Rc.*42T= (n.*42T=)
18g.60371309A>GCA8980783MC4Rc.*42T>C (n.*42T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371309A>TCA630399112MC4Rc.*42T>A (n.*42T>A)
dbSNP gnomAD v2 gnomAD v4
18g.60371310G>TCA2642029279MC4Rc.*41C>A (n.*41C>A)
gnomAD v4
18g.60371311T>ACA2735066992MC4Rc.*40A>T (n.*40A>T)
dbSNP
18g.60371311T>CCA990922115MC4Rc.*40A>G (n.*40A>G)
dbSNP gnomAD v3 gnomAD v4
18g.60371311T=CA2307358882MC4Rc.*40A= (n.*40A=)
18g.60371312C=CA2307358883MC4Rc.*39G= (n.*39G=)
18g.60371312C>GCA8980785MC4Rc.*39G>C (n.*39G>C)
dbSNP ExAC gnomAD v2
18g.60371312C>TCA8980784MC4Rc.*39G>A (n.*39G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371314C=CA2307358884MC4Rc.*37G= (n.*37G=)
18g.60371314C>GCA8980786MC4Rc.*37G>C (n.*37G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371314C>TCA657277936MC4Rc.*37G>A (n.*37G>A)
COSMIC
18g.60371315T>CCA8980787MC4Rc.*36A>G (n.*36A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371315T=CA2307358885MC4Rc.*36A= (n.*36A=)
18g.60371317A=CA2307358886MC4Rc.*34T= (n.*34T=)
18g.60371317A>CCA2307358887MC4Rc.*34T>G (n.*34T>G)
dbSNP
18g.60371317A>GCA2642029280MC4Rc.*34T>C (n.*34T>C)
gnomAD v4
18g.60371318T>CCA630399113MC4Rc.*33A>G (n.*33A>G)
dbSNP gnomAD v2 gnomAD v4
18g.60371318T=CA2307358888MC4Rc.*33A= (n.*33A=)
18g.60371319G>ACA630399114MC4Rc.*32C>T (n.*32C>T)
dbSNP gnomAD v2 gnomAD v4
18g.60371319G=CA2307358889MC4Rc.*32C= (n.*32C=)
18g.60371320C>ACA2642029281MC4Rc.*31G>T (n.*31G>T)
gnomAD v4
18g.60371320C=CA2307358890MC4Rc.*31G= (n.*31G=)
18g.60371320C>TCA630399115MC4Rc.*31G>A (n.*31G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371321A=CA2307358891MC4Rc.*30T= (n.*30T=)
18g.60371321A>GCA630399116MC4Rc.*30T>C (n.*30T>C)
dbSNP gnomAD v2 gnomAD v4
18g.60371321A>TCA781080767MC4Rc.*30T>A (n.*30T>A)
dbSNP gnomAD v3 gnomAD v4
18g.60371321_60371322insAAAAGCA2642029282MC4Rc.*29_*30insCTTTT (n.*29_*30insCTTTT)
gnomAD v4
18g.60371322_60371323delinsTGCA2307358892MC4Rc.*28_*29delinsCA (n.*28_*29delinsCA)
18g.60371323delCA8980788MC4Rc.*28del (n.*28del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371323G>ACA8980789MC4Rc.*28C>T (n.*28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60371323G>CCA2642029283MC4Rc.*28C>G (n.*28C>G)
gnomAD v4
18g.60371323G=CA2307358893MC4Rc.*28C= (n.*28C=)
18g.60371324T>CCA2307358895MC4Rc.*27A>G (n.*27A>G)
dbSNP gnomAD v4
18g.60371324T=CA2307358894MC4Rc.*27A= (n.*27A=)
18g.60371325_60371326delCA2642029284MC4Rc.*25_*26del (n.*25_*26del)
gnomAD v4
18g.60371326C>ACA2642029285MC4Rc.*25G>T (n.*25G>T)
gnomAD v4
18g.60371326C=CA2307358896MC4Rc.*25G= (n.*25G=)
18g.60371326C>GCA8980790MC4Rc.*25G>C (n.*25G>C)
dbSNP ExAC gnomAD v2
18g.60371326C>TCA2642029286MC4Rc.*25G>A (n.*25G>A)
gnomAD v4
18g.60371329A=CA2307358897MC4Rc.*22T= (n.*22T=)
18g.60371329A>GCA301529997MC4Rc.*22T>C (n.*22T>C)
dbSNP
18g.60371329A>TCA630399117MC4Rc.*22T>A (n.*22T>A)
dbSNP gnomAD v2 gnomAD v4
18g.60371330T>CCA301529998MC4Rc.*21A>G (n.*21A>G)
dbSNP gnomAD v3 gnomAD v4
18g.60371330T=CA2307358898MC4Rc.*21A= (n.*21A=)
18g.60371331A>CCA2812704127MC4Rc.*20T>G (n.*20T>G)
18g.60371335C>ACA301529999MC4Rc.*16G>T (n.*16G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371335C=CA2307358899MC4Rc.*16G= (n.*16G=)
18g.60371335C>TCA8980791MC4Rc.*16G>A (n.*16G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60371336G>ACA8980792MC4Rc.*15C>T (n.*15C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371336G=CA2307358900MC4Rc.*15C= (n.*15C=)
18g.60371338G>ACA630399118MC4Rc.*13C>T (n.*13C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371338G>CCA2576516482MC4Rc.*13C>G (n.*13C>G)
gnomAD v4
18g.60371338G=CA2307358901MC4Rc.*13C= (n.*13C=)
18g.60371338G>TCA657277937MC4Rc.*13C>A (n.*13C>A)
COSMIC
18g.60371339C=CA2307358902MC4Rc.*12G= (n.*12G=)
18g.60371339C>TCA990922128MC4Rc.*12G>A (n.*12G>A)
dbSNP gnomAD v4
18g.60371340T>CCA2642029287MC4Rc.*11A>G (n.*11A>G)
gnomAD v4
18g.60371342T>CCA8980793MC4Rc.*9A>G (n.*9A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371342T=CA2307358903MC4Rc.*9A= (n.*9A=)
18g.60371343G>ACA2642029288MC4Rc.*8C>T (n.*8C>T)
gnomAD v4
18g.60371343G>CCA2642029289MC4Rc.*8C>G (n.*8C>G)
gnomAD v4
18g.60371343G>TCA2642029290MC4Rc.*8C>A (n.*8C>A)
gnomAD v4
18g.60371344T>CCA630399119MC4Rc.*7A>G (n.*7A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371344T>GCA2307358905MC4Rc.*7A>C (n.*7A>C)
dbSNP gnomAD v4
18g.60371344T=CA2307358904MC4Rc.*7A= (n.*7A=)
18g.60371345C>TCA2576516483MC4Rc.*6G>A (n.*6G>A)
18g.60371346C=CA2307358906MC4Rc.*5G= (n.*5G=)
18g.60371346C>TCA2307358907MC4Rc.*5G>A (n.*5G>A)
dbSNP gnomAD v4
18g.60371347C>GCA2576516484MC4Rc.*4G>C (n.*4G>C)
gnomAD v4
18g.60371347C>TCA2642029291MC4Rc.*4G>A (n.*4G>A)
gnomAD v4
18g.60371348C>ACA2307358910MC4Rc.*3G>T (n.*3G>T)
dbSNP
18g.60371348C=CA2307358908MC4Rc.*3G= (n.*3G=)
18g.60371348C>TCA2307358909MC4Rc.*3G>A (n.*3G>A)
dbSNP
18g.60371349A>GCA2642029292MC4Rc.*2T>C (n.*2T>C)
gnomAD v4
18g.60371349_60371350delinsATCA2307358911MC4Rc.*1_*2delinsAT (n.*1_*2delinsAT)
18g.60371350T>CCA630399120MC4Rc.*1A>G (n.*1A>G)
dbSNP gnomAD v2 gnomAD v4
18g.60371350T=CA2307358912MC4Rc.*1A= (n.*1A=)
18g.60371352delCA2307358913MC4Rc.*1del (n.*1del)
dbSNP
18g.60371351T>ACA402718629MC4Rc.999A>T (p.Ter333Tyr)
18g.60371351T>CCA504304906MC4Rc.999A>G (p.Ter333=)
COSMIC
18g.60371351T>GCA402718630MC4Rc.999A>C (p.Ter333Tyr)
18g.60371351_60371356delinsTTAATACA2307358914MC4Rc.994_999delinsTATTAA (p.Tyr332=)
18g.60371352T>ACA402718631MC4Rc.998A>T (p.Ter333Leu)
18g.60371352T>CCA504304909MC4Rc.998A>G (p.Ter333=)
18g.60371352T>GCA402718632MC4Rc.998A>C (p.Ter333Ser)
18g.60371353_60371357delCA781080795MC4Rc.994_998del (p.Tyr332AsnfsTer?)
dbSNP
18g.60371353A>CCA402718633MC4Rc.997T>G (p.Ter333Glu)
18g.60371353A>GCA402718634MC4Rc.997T>C (p.Ter333Gln)
18g.60371353A>TCA402718635MC4Rc.997T>A (p.Ter333Lys)
18g.60371354A>CCA402718637MC4Rc.996T>G (p.Tyr332Ter)
18g.60371354A>GCA504304913MC4Rc.996T>C (p.Tyr332=)
gnomAD v4
18g.60371354A>TCA402718636MC4Rc.996T>A (p.Tyr332Ter)
18g.60371355T>ACA402718638MC4Rc.995A>T (p.Tyr332Phe)
18g.60371355T>CCA402718639MC4Rc.995A>G (p.Tyr332Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371355T>GCA402718640MC4Rc.995A>C (p.Tyr332Ser)
18g.60371355T=CA2307358915MC4Rc.995A= (p.Tyr332=)
18g.60371356A=CA2307358916MC4Rc.994T= (p.Tyr332=)
18g.60371356A>CCA402718641MC4Rc.994T>G (p.Tyr332Asp)
18g.60371356A>GCA8980794MC4Rc.994T>C (p.Tyr332His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371356A>TCA402718642MC4Rc.994T>A (p.Tyr332Asn)
18g.60371357T>ACA402718643MC4Rc.993A>T (p.Arg331Ser)
18g.60371357T>CCA504304915MC4Rc.993A>G (p.Arg331=)
18g.60371357T>GCA402718644MC4Rc.993A>C (p.Arg331Ser)
18g.60371358C>ACA402718645MC4Rc.992G>T (p.Arg331Ile)
gnomAD v4
18g.60371358C=CA2307358917MC4Rc.992G= (p.Arg331=)
18g.60371358C>GCA402718646MC4Rc.992G>C (p.Arg331Thr)
18g.60371358C>TCA402718647MC4Rc.992G>A (p.Arg331Lys)
dbSNP gnomAD v4
18g.60371359T>ACA402718648MC4Rc.991A>T (p.Arg331Ter)
18g.60371359T>CCA402718649MC4Rc.991A>G (p.Arg331Gly)
18g.60371359T>GCA504304919MC4Rc.991A>C (p.Arg331=)
dbSNP gnomAD v4
18g.60371359T=CA2307358918MC4Rc.991A= (p.Arg331=)
18g.60371360G>ACA504304921MC4Rc.990C>T (p.Ser330=)
18g.60371360G>CCA402718651MC4Rc.990C>G (p.Ser330Arg)
18g.60371360G>TCA402718650MC4Rc.990C>A (p.Ser330Arg)
18g.60371361C>ACA402718652MC4Rc.989G>T (p.Ser330Ile)
dbSNP gnomAD v4
18g.60371361C=CA2307358919MC4Rc.989G= (p.Ser330=)
18g.60371361C>GCA402718654MC4Rc.989G>C (p.Ser330Thr)
18g.60371361C>TCA402718653MC4Rc.989G>A (p.Ser330Asn)

Number of alleles fetched