Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.5618531G>ACA213036EVC2c.2653C>T (p.Arg885Ter)
c.2413C>T (p.Arg805Ter)
c.*1046C>T (n.*1046C>T)
c.2662C>T (p.Arg888Ter)
c.2422C>T (p.Arg808Ter)
c.973C>T (p.Arg325Ter)
n.2718C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.5618531G>CCA356143139EVC2c.2653C>G (p.Arg885Gly)
c.2413C>G (p.Arg805Gly)
c.*1046C>G (n.*1046C>G)
c.2662C>G (p.Arg888Gly)
c.2422C>G (p.Arg808Gly)
c.973C>G (p.Arg325Gly)
n.2718C>G
4g.5618531G=CA1435421541EVC2c.2653C= (p.Arg885=)
c.2413C= (p.Arg805=)
c.*1046C= (n.*1046C=)
c.2662C= (p.Arg888=)
c.2422C= (p.Arg808=)
c.973C= (p.Arg325=)
n.2718C=
4g.5618531G>TCA438203802EVC2c.2653C>A (p.Arg885=)
c.2413C>A (p.Arg805=)
c.*1046C>A (n.*1046C>A)
c.2662C>A (p.Arg888=)
c.2422C>A (p.Arg808=)
c.973C>A (p.Arg325=)
n.2718C>A
4g.5618532C>ACA356143148EVC2c.2652G>T (p.Trp884Cys)
c.2412G>T (p.Trp804Cys)
c.*1045G>T (n.*1045G>T)
c.2661G>T (p.Trp887Cys)
c.2421G>T (p.Trp807Cys)
c.972G>T (p.Trp324Cys)
n.2717G>T
4g.5618532C=CA1435421552EVC2c.2652G= (p.Trp884=)
c.2412G= (p.Trp804=)
c.*1045G= (n.*1045G=)
c.2661G= (p.Trp887=)
c.2421G= (p.Trp807=)
c.972G= (p.Trp324=)
n.2717G=
4g.5618532C>GCA356143141EVC2c.2652G>C (p.Trp884Cys)
c.2412G>C (p.Trp804Cys)
c.*1045G>C (n.*1045G>C)
c.2661G>C (p.Trp887Cys)
c.2421G>C (p.Trp807Cys)
c.972G>C (p.Trp324Cys)
n.2717G>C
4g.5618532C>TCA91696925EVC2c.2652G>A (p.Trp884Ter)
c.2412G>A (p.Trp804Ter)
c.*1045G>A (n.*1045G>A)
c.2661G>A (p.Trp887Ter)
c.2421G>A (p.Trp807Ter)
c.972G>A (p.Trp324Ter)
n.2717G>A
ClinVar dbSNP gnomAD v4
4g.5618533C>ACA356143149EVC2c.2651G>T (p.Trp884Leu)
c.2411G>T (p.Trp804Leu)
c.*1044G>T (n.*1044G>T)
c.2660G>T (p.Trp887Leu)
c.2420G>T (p.Trp807Leu)
c.971G>T (p.Trp324Leu)
n.2716G>T
4g.5618533C>GCA356143150EVC2c.2651G>C (p.Trp884Ser)
c.2411G>C (p.Trp804Ser)
c.*1044G>C (n.*1044G>C)
c.2660G>C (p.Trp887Ser)
c.2420G>C (p.Trp807Ser)
c.971G>C (p.Trp324Ser)
n.2716G>C
4g.5618533C>TCA356143151EVC2c.2651G>A (p.Trp884Ter)
c.2411G>A (p.Trp804Ter)
c.*1044G>A (n.*1044G>A)
c.2660G>A (p.Trp887Ter)
c.2420G>A (p.Trp807Ter)
c.971G>A (p.Trp324Ter)
n.2716G>A
4g.5618534A>CCA356143152EVC2c.2650T>G (p.Trp884Gly)
c.2410T>G (p.Trp804Gly)
c.*1043T>G (n.*1043T>G)
c.2659T>G (p.Trp887Gly)
c.2419T>G (p.Trp807Gly)
c.970T>G (p.Trp324Gly)
n.2715T>G
4g.5618534A>GCA356143153EVC2c.2650T>C (p.Trp884Arg)
c.2410T>C (p.Trp804Arg)
c.*1043T>C (n.*1043T>C)
c.2659T>C (p.Trp887Arg)
c.2419T>C (p.Trp807Arg)
c.970T>C (p.Trp324Arg)
n.2715T>C
gnomAD v4
4g.5618534A>TCA356143155EVC2c.2650T>A (p.Trp884Arg)
c.2410T>A (p.Trp804Arg)
c.*1043T>A (n.*1043T>A)
c.2659T>A (p.Trp887Arg)
c.2419T>A (p.Trp807Arg)
c.970T>A (p.Trp324Arg)
n.2715T>A
gnomAD v4
4g.5618535C>ACA2834638EVC2c.2649G>T (p.Ala883=)
c.2409G>T (p.Ala803=)
c.*1042G>T (n.*1042G>T)
c.2658G>T (p.Ala886=)
c.2418G>T (p.Ala806=)
c.969G>T (p.Ala323=)
n.2714G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618535C=CA1435421558EVC2c.2649G= (p.Ala883=)
c.2409G= (p.Ala803=)
c.*1042G= (n.*1042G=)
c.2658G= (p.Ala886=)
c.2418G= (p.Ala806=)
c.969G= (p.Ala323=)
n.2714G=
4g.5618535C>GCA438203803EVC2c.2649G>C (p.Ala883=)
c.2409G>C (p.Ala803=)
c.*1042G>C (n.*1042G>C)
c.2658G>C (p.Ala886=)
c.2418G>C (p.Ala806=)
c.969G>C (p.Ala323=)
n.2714G>C
4g.5618535C>TCA2834639EVC2c.2649G>A (p.Ala883=)
c.2409G>A (p.Ala803=)
c.*1042G>A (n.*1042G>A)
c.2658G>A (p.Ala886=)
c.2418G>A (p.Ala806=)
c.969G>A (p.Ala323=)
n.2714G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.5618536G>ACA2834640EVC2c.2648C>T (p.Ala883Val)
c.2408C>T (p.Ala803Val)
c.*1041C>T (n.*1041C>T)
c.2657C>T (p.Ala886Val)
c.2417C>T (p.Ala806Val)
c.968C>T (p.Ala323Val)
n.2713C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618536G>CCA356143162EVC2c.2648C>G (p.Ala883Gly)
c.2408C>G (p.Ala803Gly)
c.*1041C>G (n.*1041C>G)
c.2657C>G (p.Ala886Gly)
c.2417C>G (p.Ala806Gly)
c.968C>G (p.Ala323Gly)
n.2713C>G
4g.5618536G=CA1435421564EVC2c.2648C= (p.Ala883=)
c.2408C= (p.Ala803=)
c.*1041C= (n.*1041C=)
c.2657C= (p.Ala886=)
c.2417C= (p.Ala806=)
c.968C= (p.Ala323=)
n.2713C=
4g.5618536G>TCA356143163EVC2c.2648C>A (p.Ala883Glu)
c.2408C>A (p.Ala803Glu)
c.*1041C>A (n.*1041C>A)
c.2657C>A (p.Ala886Glu)
c.2417C>A (p.Ala806Glu)
c.968C>A (p.Ala323Glu)
n.2713C>A
4g.5618537C>ACA356143170EVC2c.2647G>T (p.Ala883Ser)
c.2407G>T (p.Ala803Ser)
c.*1040G>T (n.*1040G>T)
c.2656G>T (p.Ala886Ser)
c.2416G>T (p.Ala806Ser)
c.967G>T (p.Ala323Ser)
n.2712G>T
4g.5618537C>GCA356143173EVC2c.2647G>C (p.Ala883Pro)
c.2407G>C (p.Ala803Pro)
c.*1040G>C (n.*1040G>C)
c.2656G>C (p.Ala886Pro)
c.2416G>C (p.Ala806Pro)
c.967G>C (p.Ala323Pro)
n.2712G>C
4g.5618537C>TCA356143167EVC2c.2647G>A (p.Ala883Thr)
c.2407G>A (p.Ala803Thr)
c.*1040G>A (n.*1040G>A)
c.2656G>A (p.Ala886Thr)
c.2416G>A (p.Ala806Thr)
c.967G>A (p.Ala323Thr)
n.2712G>A
gnomAD v4
4g.5618538A>CCA438203804EVC2c.2646T>G (p.Thr882=)
c.2406T>G (p.Thr802=)
c.*1039T>G (n.*1039T>G)
c.2655T>G (p.Thr885=)
c.2415T>G (p.Thr805=)
c.966T>G (p.Thr322=)
n.2711T>G
4g.5618538A>GCA438203805EVC2c.2646T>C (p.Thr882=)
c.2406T>C (p.Thr802=)
c.*1039T>C (n.*1039T>C)
c.2655T>C (p.Thr885=)
c.2415T>C (p.Thr805=)
c.966T>C (p.Thr322=)
n.2711T>C
4g.5618538A>TCA438203806EVC2c.2646T>A (p.Thr882=)
c.2406T>A (p.Thr802=)
c.*1039T>A (n.*1039T>A)
c.2655T>A (p.Thr885=)
c.2415T>A (p.Thr805=)
c.966T>A (p.Thr322=)
n.2711T>A
gnomAD v4
4g.5618539G>ACA356143192EVC2c.2645C>T (p.Thr882Ile)
c.2405C>T (p.Thr802Ile)
c.*1038C>T (n.*1038C>T)
c.2654C>T (p.Thr885Ile)
c.2414C>T (p.Thr805Ile)
c.965C>T (p.Thr322Ile)
n.2710C>T
dbSNP gnomAD v3 gnomAD v4
4g.5618539G>CCA356143196EVC2c.2645C>G (p.Thr882Ser)
c.2405C>G (p.Thr802Ser)
c.*1038C>G (n.*1038C>G)
c.2654C>G (p.Thr885Ser)
c.2414C>G (p.Thr805Ser)
c.965C>G (p.Thr322Ser)
n.2710C>G
4g.5618539G=CA1435421573EVC2c.2645C= (p.Thr882=)
c.2405C= (p.Thr802=)
c.*1038C= (n.*1038C=)
c.2654C= (p.Thr885=)
c.2414C= (p.Thr805=)
c.965C= (p.Thr322=)
n.2710C=
4g.5618539G>TCA356143198EVC2c.2645C>A (p.Thr882Asn)
c.2405C>A (p.Thr802Asn)
c.*1038C>A (n.*1038C>A)
c.2654C>A (p.Thr885Asn)
c.2414C>A (p.Thr805Asn)
c.965C>A (p.Thr322Asn)
n.2710C>A
4g.5618540T>ACA356143201EVC2c.2644A>T (p.Thr882Ser)
c.2404A>T (p.Thr802Ser)
c.*1037A>T (n.*1037A>T)
c.2653A>T (p.Thr885Ser)
c.2413A>T (p.Thr805Ser)
c.964A>T (p.Thr322Ser)
n.2709A>T
4g.5618540T>CCA2834641EVC2c.2644A>G (p.Thr882Ala)
c.2404A>G (p.Thr802Ala)
c.*1037A>G (n.*1037A>G)
c.2653A>G (p.Thr885Ala)
c.2413A>G (p.Thr805Ala)
c.964A>G (p.Thr322Ala)
n.2709A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618540T>GCA356143205EVC2c.2644A>C (p.Thr882Pro)
c.2404A>C (p.Thr802Pro)
c.*1037A>C (n.*1037A>C)
c.2653A>C (p.Thr885Pro)
c.2413A>C (p.Thr805Pro)
c.964A>C (p.Thr322Pro)
n.2709A>C
4g.5618540T=CA1435421577EVC2c.2644A= (p.Thr882=)
c.2404A= (p.Thr802=)
c.*1037A= (n.*1037A=)
c.2653A= (p.Thr885=)
c.2413A= (p.Thr805=)
c.964A= (p.Thr322=)
n.2709A=
4g.5618541C>ACA2834643EVC2c.2643G>T (p.Gln881His)
c.2403G>T (p.Gln801His)
c.*1036G>T (n.*1036G>T)
c.2652G>T (p.Gln884His)
c.2412G>T (p.Gln804His)
c.963G>T (p.Gln321His)
n.2708G>T
dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618541C=CA1435421586EVC2c.2643G= (p.Gln881=)
c.2403G= (p.Gln801=)
c.*1036G= (n.*1036G=)
c.2652G= (p.Gln884=)
c.2412G= (p.Gln804=)
c.963G= (p.Gln321=)
n.2708G=
4g.5618541C>GCA2834642EVC2c.2643G>C (p.Gln881His)
c.2403G>C (p.Gln801His)
c.*1036G>C (n.*1036G>C)
c.2652G>C (p.Gln884His)
c.2412G>C (p.Gln804His)
c.963G>C (p.Gln321His)
n.2708G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618541C>TCA438203807EVC2c.2643G>A (p.Gln881=)
c.2403G>A (p.Gln801=)
c.*1036G>A (n.*1036G>A)
c.2652G>A (p.Gln884=)
c.2412G>A (p.Gln804=)
c.963G>A (p.Gln321=)
n.2708G>A
gnomAD v4
4g.5618542T>ACA356143217EVC2c.2642A>T (p.Gln881Leu)
c.2402A>T (p.Gln801Leu)
c.*1035A>T (n.*1035A>T)
c.2651A>T (p.Gln884Leu)
c.2411A>T (p.Gln804Leu)
c.962A>T (p.Gln321Leu)
n.2707A>T
4g.5618542T>CCA356143218EVC2c.2642A>G (p.Gln881Arg)
c.2402A>G (p.Gln801Arg)
c.*1035A>G (n.*1035A>G)
c.2651A>G (p.Gln884Arg)
c.2411A>G (p.Gln804Arg)
c.962A>G (p.Gln321Arg)
n.2707A>G
4g.5618542T>GCA356143222EVC2c.2642A>C (p.Gln881Pro)
c.2402A>C (p.Gln801Pro)
c.*1035A>C (n.*1035A>C)
c.2651A>C (p.Gln884Pro)
c.2411A>C (p.Gln804Pro)
c.962A>C (p.Gln321Pro)
n.2707A>C
4g.5618543G>ACA356143225EVC2c.2641C>T (p.Gln881Ter)
c.2401C>T (p.Gln801Ter)
c.*1034C>T (n.*1034C>T)
c.2650C>T (p.Gln884Ter)
c.2410C>T (p.Gln804Ter)
c.961C>T (p.Gln321Ter)
n.2706C>T
gnomAD v4
4g.5618543G>CCA356143227EVC2c.2641C>G (p.Gln881Glu)
c.2401C>G (p.Gln801Glu)
c.*1034C>G (n.*1034C>G)
c.2650C>G (p.Gln884Glu)
c.2410C>G (p.Gln804Glu)
c.961C>G (p.Gln321Glu)
n.2706C>G
4g.5618543G>TCA356143228EVC2c.2641C>A (p.Gln881Lys)
c.2401C>A (p.Gln801Lys)
c.*1034C>A (n.*1034C>A)
c.2650C>A (p.Gln884Lys)
c.2410C>A (p.Gln804Lys)
c.961C>A (p.Gln321Lys)
n.2706C>A
4g.5618544A=CA1435421589EVC2c.2640T= (p.Phe880=)
c.2400T= (p.Phe800=)
c.*1033T= (n.*1033T=)
c.2649T= (p.Phe883=)
c.2409T= (p.Phe803=)
c.960T= (p.Phe320=)
n.2705T=
4g.5618544A>CCA356143231EVC2c.2640T>G (p.Phe880Leu)
c.2400T>G (p.Phe800Leu)
c.*1033T>G (n.*1033T>G)
c.2649T>G (p.Phe883Leu)
c.2409T>G (p.Phe803Leu)
c.960T>G (p.Phe320Leu)
n.2705T>G
gnomAD v4
4g.5618544A>GCA438203808EVC2c.2640T>C (p.Phe880=)
c.2400T>C (p.Phe800=)
c.*1033T>C (n.*1033T>C)
c.2649T>C (p.Phe883=)
c.2409T>C (p.Phe803=)
c.960T>C (p.Phe320=)
n.2705T>C
4g.5618544A>TCA356143234EVC2c.2640T>A (p.Phe880Leu)
c.2400T>A (p.Phe800Leu)
c.*1033T>A (n.*1033T>A)
c.2649T>A (p.Phe883Leu)
c.2409T>A (p.Phe803Leu)
c.960T>A (p.Phe320Leu)
n.2705T>A
dbSNP

Number of alleles fetched