Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843098G>ACA013731APCc.7558G>A (p.Gly2520Ser)
c.*7510G>A (n.*7510G>A)
c.7450G>A (p.Gly2484Ser)
c.7504G>A (p.Gly2502Ser)
c.231-13551G>A
c.7534G>A (p.Gly2512Ser)
c.7429G>A (p.Gly2477Ser)
c.7420G>A (p.Gly2474Ser)
c.7381G>A (p.Gly2461Ser)
c.7327G>A (p.Gly2443Ser)
c.7231G>A (p.Gly2411Ser)
c.7201G>A (p.Gly2401Ser)
c.7126G>A (p.Gly2376Ser)
c.7024G>A (p.Gly2342Ser)
c.6655G>A (p.Gly2219Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843098G>CCA16037649APCc.7558G>C (p.Gly2520Arg)
c.*7510G>C (n.*7510G>C)
c.7450G>C (p.Gly2484Arg)
c.7504G>C (p.Gly2502Arg)
c.231-13551G>C
c.7534G>C (p.Gly2512Arg)
c.7429G>C (p.Gly2477Arg)
c.7420G>C (p.Gly2474Arg)
c.7381G>C (p.Gly2461Arg)
c.7327G>C (p.Gly2443Arg)
c.7231G>C (p.Gly2411Arg)
c.7201G>C (p.Gly2401Arg)
c.7126G>C (p.Gly2376Arg)
c.7024G>C (p.Gly2342Arg)
c.6655G>C (p.Gly2219Arg)
dbSNP
5g.112843098G=CA1573471352APCc.7558G= (p.Gly2520=)
c.*7510G= (n.*7510G=)
c.7450G= (p.Gly2484=)
c.7504G= (p.Gly2502=)
c.231-13551G=
c.7534G= (p.Gly2512=)
c.7429G= (p.Gly2477=)
c.7420G= (p.Gly2474=)
c.7381G= (p.Gly2461=)
c.7327G= (p.Gly2443=)
c.7231G= (p.Gly2411=)
c.7201G= (p.Gly2401=)
c.7126G= (p.Gly2376=)
c.7024G= (p.Gly2342=)
c.6655G= (p.Gly2219=)
5g.112843098G>TCA16037650APCc.7558G>T (p.Gly2520Cys)
c.*7510G>T (n.*7510G>T)
c.7450G>T (p.Gly2484Cys)
c.7504G>T (p.Gly2502Cys)
c.231-13551G>T
c.7534G>T (p.Gly2512Cys)
c.7429G>T (p.Gly2477Cys)
c.7420G>T (p.Gly2474Cys)
c.7381G>T (p.Gly2461Cys)
c.7327G>T (p.Gly2443Cys)
c.7231G>T (p.Gly2411Cys)
c.7201G>T (p.Gly2401Cys)
c.7126G>T (p.Gly2376Cys)
c.7024G>T (p.Gly2342Cys)
c.6655G>T (p.Gly2219Cys)
dbSNP
5g.112843099G>ACA048278APCc.7559G>A (p.Gly2520Asp)
c.*7511G>A (n.*7511G>A)
c.7451G>A (p.Gly2484Asp)
c.7505G>A (p.Gly2502Asp)
c.231-13550G>A
c.7535G>A (p.Gly2512Asp)
c.7430G>A (p.Gly2477Asp)
c.7421G>A (p.Gly2474Asp)
c.7382G>A (p.Gly2461Asp)
c.7328G>A (p.Gly2443Asp)
c.7232G>A (p.Gly2411Asp)
c.7202G>A (p.Gly2401Asp)
c.7127G>A (p.Gly2376Asp)
c.7025G>A (p.Gly2342Asp)
c.6656G>A (p.Gly2219Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843099G>CCA16037651APCc.7559G>C (p.Gly2520Ala)
c.*7511G>C (n.*7511G>C)
c.7451G>C (p.Gly2484Ala)
c.7505G>C (p.Gly2502Ala)
c.231-13550G>C
c.7535G>C (p.Gly2512Ala)
c.7430G>C (p.Gly2477Ala)
c.7421G>C (p.Gly2474Ala)
c.7382G>C (p.Gly2461Ala)
c.7328G>C (p.Gly2443Ala)
c.7232G>C (p.Gly2411Ala)
c.7202G>C (p.Gly2401Ala)
c.7127G>C (p.Gly2376Ala)
c.7025G>C (p.Gly2342Ala)
c.6656G>C (p.Gly2219Ala)
dbSNP gnomAD v4 COSMIC
5g.112843099G=CA1573471365APCc.7559G= (p.Gly2520=)
c.*7511G= (n.*7511G=)
c.7451G= (p.Gly2484=)
c.7505G= (p.Gly2502=)
c.231-13550G=
c.7535G= (p.Gly2512=)
c.7430G= (p.Gly2477=)
c.7421G= (p.Gly2474=)
c.7382G= (p.Gly2461=)
c.7328G= (p.Gly2443=)
c.7232G= (p.Gly2411=)
c.7202G= (p.Gly2401=)
c.7127G= (p.Gly2376=)
c.7025G= (p.Gly2342=)
c.6656G= (p.Gly2219=)
5g.112843099G>TCA16037652APCc.7559G>T (p.Gly2520Val)
c.*7511G>T (n.*7511G>T)
c.7451G>T (p.Gly2484Val)
c.7505G>T (p.Gly2502Val)
c.231-13550G>T
c.7535G>T (p.Gly2512Val)
c.7430G>T (p.Gly2477Val)
c.7421G>T (p.Gly2474Val)
c.7382G>T (p.Gly2461Val)
c.7328G>T (p.Gly2443Val)
c.7232G>T (p.Gly2411Val)
c.7202G>T (p.Gly2401Val)
c.7127G>T (p.Gly2376Val)
c.7025G>T (p.Gly2342Val)
c.6656G>T (p.Gly2219Val)
dbSNP
5g.112843100T>ACA446210860APCc.7560T>A (p.Gly2520=)
c.*7512T>A (n.*7512T>A)
c.7452T>A (p.Gly2484=)
c.7506T>A (p.Gly2502=)
c.231-13549T>A
c.7536T>A (p.Gly2512=)
c.7431T>A (p.Gly2477=)
c.7422T>A (p.Gly2474=)
c.7383T>A (p.Gly2461=)
c.7329T>A (p.Gly2443=)
c.7233T>A (p.Gly2411=)
c.7203T>A (p.Gly2401=)
c.7128T>A (p.Gly2376=)
c.7026T>A (p.Gly2342=)
c.6657T>A (p.Gly2219=)
5g.112843100T>CCA446210861APCc.7560T>C (p.Gly2520=)
c.*7512T>C (n.*7512T>C)
c.7452T>C (p.Gly2484=)
c.7506T>C (p.Gly2502=)
c.231-13549T>C
c.7536T>C (p.Gly2512=)
c.7431T>C (p.Gly2477=)
c.7422T>C (p.Gly2474=)
c.7383T>C (p.Gly2461=)
c.7329T>C (p.Gly2443=)
c.7233T>C (p.Gly2411=)
c.7203T>C (p.Gly2401=)
c.7128T>C (p.Gly2376=)
c.7026T>C (p.Gly2342=)
c.6657T>C (p.Gly2219=)
5g.112843100T>GCA446210862APCc.7560T>G (p.Gly2520=)
c.*7512T>G (n.*7512T>G)
c.7452T>G (p.Gly2484=)
c.7506T>G (p.Gly2502=)
c.231-13549T>G
c.7536T>G (p.Gly2512=)
c.7431T>G (p.Gly2477=)
c.7422T>G (p.Gly2474=)
c.7383T>G (p.Gly2461=)
c.7329T>G (p.Gly2443=)
c.7233T>G (p.Gly2411=)
c.7203T>G (p.Gly2401=)
c.7128T>G (p.Gly2376=)
c.7026T>G (p.Gly2342=)
c.6657T>G (p.Gly2219=)
ClinVar dbSNP
5g.112843101G>ACA16037653APCc.7561G>A (p.Gly2521Arg)
c.*7513G>A (n.*7513G>A)
c.7453G>A (p.Gly2485Arg)
c.7507G>A (p.Gly2503Arg)
c.231-13548G>A
c.7537G>A (p.Gly2513Arg)
c.7432G>A (p.Gly2478Arg)
c.7423G>A (p.Gly2475Arg)
c.7384G>A (p.Gly2462Arg)
c.7330G>A (p.Gly2444Arg)
c.7234G>A (p.Gly2412Arg)
c.7204G>A (p.Gly2402Arg)
c.7129G>A (p.Gly2377Arg)
c.7027G>A (p.Gly2343Arg)
c.6658G>A (p.Gly2220Arg)
COSMIC
5g.112843101G>CCA16037654APCc.7561G>C (p.Gly2521Arg)
c.*7513G>C (n.*7513G>C)
c.7453G>C (p.Gly2485Arg)
c.7507G>C (p.Gly2503Arg)
c.231-13548G>C
c.7537G>C (p.Gly2513Arg)
c.7432G>C (p.Gly2478Arg)
c.7423G>C (p.Gly2475Arg)
c.7384G>C (p.Gly2462Arg)
c.7330G>C (p.Gly2444Arg)
c.7234G>C (p.Gly2412Arg)
c.7204G>C (p.Gly2402Arg)
c.7129G>C (p.Gly2377Arg)
c.7027G>C (p.Gly2343Arg)
c.6658G>C (p.Gly2220Arg)
5g.112843101G>TCA16037655APCc.7561G>T (p.Gly2521Ter)
c.*7513G>T (n.*7513G>T)
c.7453G>T (p.Gly2485Ter)
c.7507G>T (p.Gly2503Ter)
c.231-13548G>T
c.7537G>T (p.Gly2513Ter)
c.7432G>T (p.Gly2478Ter)
c.7423G>T (p.Gly2475Ter)
c.7384G>T (p.Gly2462Ter)
c.7330G>T (p.Gly2444Ter)
c.7234G>T (p.Gly2412Ter)
c.7204G>T (p.Gly2402Ter)
c.7129G>T (p.Gly2377Ter)
c.7027G>T (p.Gly2343Ter)
c.6658G>T (p.Gly2220Ter)
5g.112843102G>ACA048295APCc.7562G>A (p.Gly2521Glu)
c.*7514G>A (n.*7514G>A)
c.7454G>A (p.Gly2485Glu)
c.7508G>A (p.Gly2503Glu)
c.231-13547G>A
c.7538G>A (p.Gly2513Glu)
c.7433G>A (p.Gly2478Glu)
c.7424G>A (p.Gly2475Glu)
c.7385G>A (p.Gly2462Glu)
c.7331G>A (p.Gly2444Glu)
c.7235G>A (p.Gly2412Glu)
c.7205G>A (p.Gly2402Glu)
c.7130G>A (p.Gly2377Glu)
c.7028G>A (p.Gly2343Glu)
c.6659G>A (p.Gly2220Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843102G>CCA16037656APCc.7562G>C (p.Gly2521Ala)
c.*7514G>C (n.*7514G>C)
c.7454G>C (p.Gly2485Ala)
c.7508G>C (p.Gly2503Ala)
c.231-13547G>C
c.7538G>C (p.Gly2513Ala)
c.7433G>C (p.Gly2478Ala)
c.7424G>C (p.Gly2475Ala)
c.7385G>C (p.Gly2462Ala)
c.7331G>C (p.Gly2444Ala)
c.7235G>C (p.Gly2412Ala)
c.7205G>C (p.Gly2402Ala)
c.7130G>C (p.Gly2377Ala)
c.7028G>C (p.Gly2343Ala)
c.6659G>C (p.Gly2220Ala)
dbSNP
5g.112843102G=CA1573471372APCc.7562G= (p.Gly2521=)
c.*7514G= (n.*7514G=)
c.7454G= (p.Gly2485=)
c.7508G= (p.Gly2503=)
c.231-13547G=
c.7538G= (p.Gly2513=)
c.7433G= (p.Gly2478=)
c.7424G= (p.Gly2475=)
c.7385G= (p.Gly2462=)
c.7331G= (p.Gly2444=)
c.7235G= (p.Gly2412=)
c.7205G= (p.Gly2402=)
c.7130G= (p.Gly2377=)
c.7028G= (p.Gly2343=)
c.6659G= (p.Gly2220=)
5g.112843102G>TCA16037657APCc.7562G>T (p.Gly2521Val)
c.*7514G>T (n.*7514G>T)
c.7454G>T (p.Gly2485Val)
c.7508G>T (p.Gly2503Val)
c.231-13547G>T
c.7538G>T (p.Gly2513Val)
c.7433G>T (p.Gly2478Val)
c.7424G>T (p.Gly2475Val)
c.7385G>T (p.Gly2462Val)
c.7331G>T (p.Gly2444Val)
c.7235G>T (p.Gly2412Val)
c.7205G>T (p.Gly2402Val)
c.7130G>T (p.Gly2377Val)
c.7028G>T (p.Gly2343Val)
c.6659G>T (p.Gly2220Val)
dbSNP
5g.112843103A=CA1573471384APCc.7563A= (p.Gly2521=)
c.*7515A= (n.*7515A=)
c.7455A= (p.Gly2485=)
c.7509A= (p.Gly2503=)
c.231-13546A=
c.7539A= (p.Gly2513=)
c.7434A= (p.Gly2478=)
c.7425A= (p.Gly2475=)
c.7386A= (p.Gly2462=)
c.7332A= (p.Gly2444=)
c.7236A= (p.Gly2412=)
c.7206A= (p.Gly2402=)
c.7131A= (p.Gly2377=)
c.7029A= (p.Gly2343=)
c.6660A= (p.Gly2220=)
5g.112843103A>CCA446210863APCc.7563A>C (p.Gly2521=)
c.*7515A>C (n.*7515A>C)
c.7455A>C (p.Gly2485=)
c.7509A>C (p.Gly2503=)
c.231-13546A>C
c.7539A>C (p.Gly2513=)
c.7434A>C (p.Gly2478=)
c.7425A>C (p.Gly2475=)
c.7386A>C (p.Gly2462=)
c.7332A>C (p.Gly2444=)
c.7236A>C (p.Gly2412=)
c.7206A>C (p.Gly2402=)
c.7131A>C (p.Gly2377=)
c.7029A>C (p.Gly2343=)
c.6660A>C (p.Gly2220=)
dbSNP
5g.112843103A>GCA446210864APCc.7563A>G (p.Gly2521=)
c.*7515A>G (n.*7515A>G)
c.7455A>G (p.Gly2485=)
c.7509A>G (p.Gly2503=)
c.231-13546A>G
c.7539A>G (p.Gly2513=)
c.7434A>G (p.Gly2478=)
c.7425A>G (p.Gly2475=)
c.7386A>G (p.Gly2462=)
c.7332A>G (p.Gly2444=)
c.7236A>G (p.Gly2412=)
c.7206A>G (p.Gly2402=)
c.7131A>G (p.Gly2377=)
c.7029A>G (p.Gly2343=)
c.6660A>G (p.Gly2220=)
ClinVar dbSNP gnomAD v4
5g.112843103A>TCA446210865APCc.7563A>T (p.Gly2521=)
c.*7515A>T (n.*7515A>T)
c.7455A>T (p.Gly2485=)
c.7509A>T (p.Gly2503=)
c.231-13546A>T
c.7539A>T (p.Gly2513=)
c.7434A>T (p.Gly2478=)
c.7425A>T (p.Gly2475=)
c.7386A>T (p.Gly2462=)
c.7332A>T (p.Gly2444=)
c.7236A>T (p.Gly2412=)
c.7206A>T (p.Gly2402=)
c.7131A>T (p.Gly2377=)
c.7029A>T (p.Gly2343=)
c.6660A>T (p.Gly2220=)
dbSNP
5g.112843104T>ACA16037658APCc.7564T>A (p.Trp2522Arg)
c.*7516T>A (n.*7516T>A)
c.7456T>A (p.Trp2486Arg)
c.7510T>A (p.Trp2504Arg)
c.231-13545T>A
c.7540T>A (p.Trp2514Arg)
c.7435T>A (p.Trp2479Arg)
c.7426T>A (p.Trp2476Arg)
c.7387T>A (p.Trp2463Arg)
c.7333T>A (p.Trp2445Arg)
c.7237T>A (p.Trp2413Arg)
c.7207T>A (p.Trp2403Arg)
c.7132T>A (p.Trp2378Arg)
c.7030T>A (p.Trp2344Arg)
c.6661T>A (p.Trp2221Arg)
5g.112843104T>CCA16037659APCc.7564T>C (p.Trp2522Arg)
c.*7516T>C (n.*7516T>C)
c.7456T>C (p.Trp2486Arg)
c.7510T>C (p.Trp2504Arg)
c.231-13545T>C
c.7540T>C (p.Trp2514Arg)
c.7435T>C (p.Trp2479Arg)
c.7426T>C (p.Trp2476Arg)
c.7387T>C (p.Trp2463Arg)
c.7333T>C (p.Trp2445Arg)
c.7237T>C (p.Trp2413Arg)
c.7207T>C (p.Trp2403Arg)
c.7132T>C (p.Trp2378Arg)
c.7030T>C (p.Trp2344Arg)
c.6661T>C (p.Trp2221Arg)
5g.112843104T>GCA16037660APCc.7564T>G (p.Trp2522Gly)
c.*7516T>G (n.*7516T>G)
c.7456T>G (p.Trp2486Gly)
c.7510T>G (p.Trp2504Gly)
c.231-13545T>G
c.7540T>G (p.Trp2514Gly)
c.7435T>G (p.Trp2479Gly)
c.7426T>G (p.Trp2476Gly)
c.7387T>G (p.Trp2463Gly)
c.7333T>G (p.Trp2445Gly)
c.7237T>G (p.Trp2413Gly)
c.7207T>G (p.Trp2403Gly)
c.7132T>G (p.Trp2378Gly)
c.7030T>G (p.Trp2344Gly)
c.6661T>G (p.Trp2221Gly)
5g.112843105G>ACA248496APCc.7565G>A (p.Trp2522Ter)
c.*7517G>A (n.*7517G>A)
c.7457G>A (p.Trp2486Ter)
c.7511G>A (p.Trp2504Ter)
c.231-13544G>A
c.7541G>A (p.Trp2514Ter)
c.7436G>A (p.Trp2479Ter)
c.7427G>A (p.Trp2476Ter)
c.7388G>A (p.Trp2463Ter)
c.7334G>A (p.Trp2445Ter)
c.7238G>A (p.Trp2413Ter)
c.7208G>A (p.Trp2403Ter)
c.7133G>A (p.Trp2378Ter)
c.7031G>A (p.Trp2344Ter)
c.6662G>A (p.Trp2221Ter)
ClinVar dbSNP
5g.112843105G>CCA16037661APCc.7565G>C (p.Trp2522Ser)
c.*7517G>C (n.*7517G>C)
c.7457G>C (p.Trp2486Ser)
c.7511G>C (p.Trp2504Ser)
c.231-13544G>C
c.7541G>C (p.Trp2514Ser)
c.7436G>C (p.Trp2479Ser)
c.7427G>C (p.Trp2476Ser)
c.7388G>C (p.Trp2463Ser)
c.7334G>C (p.Trp2445Ser)
c.7238G>C (p.Trp2413Ser)
c.7208G>C (p.Trp2403Ser)
c.7133G>C (p.Trp2378Ser)
c.7031G>C (p.Trp2344Ser)
c.6662G>C (p.Trp2221Ser)
dbSNP gnomAD v4
5g.112843105G=CA1573471389APCc.7565G= (p.Trp2522=)
c.*7517G= (n.*7517G=)
c.7457G= (p.Trp2486=)
c.7511G= (p.Trp2504=)
c.231-13544G=
c.7541G= (p.Trp2514=)
c.7436G= (p.Trp2479=)
c.7427G= (p.Trp2476=)
c.7388G= (p.Trp2463=)
c.7334G= (p.Trp2445=)
c.7238G= (p.Trp2413=)
c.7208G= (p.Trp2403=)
c.7133G= (p.Trp2378=)
c.7031G= (p.Trp2344=)
c.6662G= (p.Trp2221=)
5g.112843105G>TCA16037662APCc.7565G>T (p.Trp2522Leu)
c.*7517G>T (n.*7517G>T)
c.7457G>T (p.Trp2486Leu)
c.7511G>T (p.Trp2504Leu)
c.231-13544G>T
c.7541G>T (p.Trp2514Leu)
c.7436G>T (p.Trp2479Leu)
c.7427G>T (p.Trp2476Leu)
c.7388G>T (p.Trp2463Leu)
c.7334G>T (p.Trp2445Leu)
c.7238G>T (p.Trp2413Leu)
c.7208G>T (p.Trp2403Leu)
c.7133G>T (p.Trp2378Leu)
c.7031G>T (p.Trp2344Leu)
c.6662G>T (p.Trp2221Leu)
dbSNP
5g.112843106G>ACA16037663APCc.7566G>A (p.Trp2522Ter)
c.*7518G>A (n.*7518G>A)
c.7458G>A (p.Trp2486Ter)
c.7512G>A (p.Trp2504Ter)
c.231-13543G>A
c.7542G>A (p.Trp2514Ter)
c.7437G>A (p.Trp2479Ter)
c.7428G>A (p.Trp2476Ter)
c.7389G>A (p.Trp2463Ter)
c.7335G>A (p.Trp2445Ter)
c.7239G>A (p.Trp2413Ter)
c.7209G>A (p.Trp2403Ter)
c.7134G>A (p.Trp2378Ter)
c.7032G>A (p.Trp2344Ter)
c.6663G>A (p.Trp2221Ter)
ClinVar dbSNP
5g.112843106G>CCA16037664APCc.7566G>C (p.Trp2522Cys)
c.*7518G>C (n.*7518G>C)
c.7458G>C (p.Trp2486Cys)
c.7512G>C (p.Trp2504Cys)
c.231-13543G>C
c.7542G>C (p.Trp2514Cys)
c.7437G>C (p.Trp2479Cys)
c.7428G>C (p.Trp2476Cys)
c.7389G>C (p.Trp2463Cys)
c.7335G>C (p.Trp2445Cys)
c.7239G>C (p.Trp2413Cys)
c.7209G>C (p.Trp2403Cys)
c.7134G>C (p.Trp2378Cys)
c.7032G>C (p.Trp2344Cys)
c.6663G>C (p.Trp2221Cys)
dbSNP
5g.112843106G=CA1573471403APCc.7566G= (p.Trp2522=)
c.*7518G= (n.*7518G=)
c.7458G= (p.Trp2486=)
c.7512G= (p.Trp2504=)
c.231-13543G=
c.7542G= (p.Trp2514=)
c.7437G= (p.Trp2479=)
c.7428G= (p.Trp2476=)
c.7389G= (p.Trp2463=)
c.7335G= (p.Trp2445=)
c.7239G= (p.Trp2413=)
c.7209G= (p.Trp2403=)
c.7134G= (p.Trp2378=)
c.7032G= (p.Trp2344=)
c.6663G= (p.Trp2221=)
5g.112843106G>TCA16037665APCc.7566G>T (p.Trp2522Cys)
c.*7518G>T (n.*7518G>T)
c.7458G>T (p.Trp2486Cys)
c.7512G>T (p.Trp2504Cys)
c.231-13543G>T
c.7542G>T (p.Trp2514Cys)
c.7437G>T (p.Trp2479Cys)
c.7428G>T (p.Trp2476Cys)
c.7389G>T (p.Trp2463Cys)
c.7335G>T (p.Trp2445Cys)
c.7239G>T (p.Trp2413Cys)
c.7209G>T (p.Trp2403Cys)
c.7134G>T (p.Trp2378Cys)
c.7032G>T (p.Trp2344Cys)
c.6663G>T (p.Trp2221Cys)
dbSNP
5g.112843107C>ACA446210866APCc.7567C>A (p.Arg2523=)
c.*7519C>A (n.*7519C>A)
c.7459C>A (p.Arg2487=)
c.7513C>A (p.Arg2505=)
c.231-13542C>A
c.7543C>A (p.Arg2515=)
c.7438C>A (p.Arg2480=)
c.7429C>A (p.Arg2477=)
c.7390C>A (p.Arg2464=)
c.7336C>A (p.Arg2446=)
c.7240C>A (p.Arg2414=)
c.7210C>A (p.Arg2404=)
c.7135C>A (p.Arg2379=)
c.7033C>A (p.Arg2345=)
c.6664C>A (p.Arg2222=)
5g.112843107C=CA1573471418APCc.7567C= (p.Arg2523=)
c.*7519C= (n.*7519C=)
c.7459C= (p.Arg2487=)
c.7513C= (p.Arg2505=)
c.231-13542C=
c.7543C= (p.Arg2515=)
c.7438C= (p.Arg2480=)
c.7429C= (p.Arg2477=)
c.7390C= (p.Arg2464=)
c.7336C= (p.Arg2446=)
c.7240C= (p.Arg2414=)
c.7210C= (p.Arg2404=)
c.7135C= (p.Arg2379=)
c.7033C= (p.Arg2345=)
c.6664C= (p.Arg2222=)
5g.112843107C>GCA013742APCc.7567C>G (p.Arg2523Gly)
c.*7519C>G (n.*7519C>G)
c.7459C>G (p.Arg2487Gly)
c.7513C>G (p.Arg2505Gly)
c.231-13542C>G
c.7543C>G (p.Arg2515Gly)
c.7438C>G (p.Arg2480Gly)
c.7429C>G (p.Arg2477Gly)
c.7390C>G (p.Arg2464Gly)
c.7336C>G (p.Arg2446Gly)
c.7240C>G (p.Arg2414Gly)
c.7210C>G (p.Arg2404Gly)
c.7135C>G (p.Arg2379Gly)
c.7033C>G (p.Arg2345Gly)
c.6664C>G (p.Arg2222Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843107C>TCA16037666APCc.7567C>T (p.Arg2523Ter)
c.*7519C>T (n.*7519C>T)
c.7459C>T (p.Arg2487Ter)
c.7513C>T (p.Arg2505Ter)
c.231-13542C>T
c.7543C>T (p.Arg2515Ter)
c.7438C>T (p.Arg2480Ter)
c.7429C>T (p.Arg2477Ter)
c.7390C>T (p.Arg2464Ter)
c.7336C>T (p.Arg2446Ter)
c.7240C>T (p.Arg2414Ter)
c.7210C>T (p.Arg2404Ter)
c.7135C>T (p.Arg2379Ter)
c.7033C>T (p.Arg2345Ter)
c.6664C>T (p.Arg2222Ter)
ClinVar dbSNP gnomAD v4
5g.112843108G>ACA013752APCc.7568G>A (p.Arg2523Gln)
c.*7520G>A (n.*7520G>A)
c.7460G>A (p.Arg2487Gln)
c.7514G>A (p.Arg2505Gln)
c.231-13541G>A
c.7544G>A (p.Arg2515Gln)
c.7439G>A (p.Arg2480Gln)
c.7430G>A (p.Arg2477Gln)
c.7391G>A (p.Arg2464Gln)
c.7337G>A (p.Arg2446Gln)
c.7241G>A (p.Arg2414Gln)
c.7211G>A (p.Arg2404Gln)
c.7136G>A (p.Arg2379Gln)
c.7034G>A (p.Arg2345Gln)
c.6665G>A (p.Arg2222Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843108G>CCA16037667APCc.7568G>C (p.Arg2523Pro)
c.*7520G>C (n.*7520G>C)
c.7460G>C (p.Arg2487Pro)
c.7514G>C (p.Arg2505Pro)
c.231-13541G>C
c.7544G>C (p.Arg2515Pro)
c.7439G>C (p.Arg2480Pro)
c.7430G>C (p.Arg2477Pro)
c.7391G>C (p.Arg2464Pro)
c.7337G>C (p.Arg2446Pro)
c.7241G>C (p.Arg2414Pro)
c.7211G>C (p.Arg2404Pro)
c.7136G>C (p.Arg2379Pro)
c.7034G>C (p.Arg2345Pro)
c.6665G>C (p.Arg2222Pro)
5g.112843108G=CA1573471439APCc.7568G= (p.Arg2523=)
c.*7520G= (n.*7520G=)
c.7460G= (p.Arg2487=)
c.7514G= (p.Arg2505=)
c.231-13541G=
c.7544G= (p.Arg2515=)
c.7439G= (p.Arg2480=)
c.7430G= (p.Arg2477=)
c.7391G= (p.Arg2464=)
c.7337G= (p.Arg2446=)
c.7241G= (p.Arg2414=)
c.7211G= (p.Arg2404=)
c.7136G= (p.Arg2379=)
c.7034G= (p.Arg2345=)
c.6665G= (p.Arg2222=)
5g.112843108G>TCA16037668APCc.7568G>T (p.Arg2523Leu)
c.*7520G>T (n.*7520G>T)
c.7460G>T (p.Arg2487Leu)
c.7514G>T (p.Arg2505Leu)
c.231-13541G>T
c.7544G>T (p.Arg2515Leu)
c.7439G>T (p.Arg2480Leu)
c.7430G>T (p.Arg2477Leu)
c.7391G>T (p.Arg2464Leu)
c.7337G>T (p.Arg2446Leu)
c.7241G>T (p.Arg2414Leu)
c.7211G>T (p.Arg2404Leu)
c.7136G>T (p.Arg2379Leu)
c.7034G>T (p.Arg2345Leu)
c.6665G>T (p.Arg2222Leu)
COSMIC
5g.112843109A=CA1573471445APCc.7569A= (p.Arg2523=)
c.*7521A= (n.*7521A=)
c.7461A= (p.Arg2487=)
c.7515A= (p.Arg2505=)
c.231-13540A=
c.7545A= (p.Arg2515=)
c.7440A= (p.Arg2480=)
c.7431A= (p.Arg2477=)
c.7392A= (p.Arg2464=)
c.7338A= (p.Arg2446=)
c.7242A= (p.Arg2414=)
c.7212A= (p.Arg2404=)
c.7137A= (p.Arg2379=)
c.7035A= (p.Arg2345=)
c.6666A= (p.Arg2222=)
5g.112843109A>CCA446210867APCc.7569A>C (p.Arg2523=)
c.*7521A>C (n.*7521A>C)
c.7461A>C (p.Arg2487=)
c.7515A>C (p.Arg2505=)
c.231-13540A>C
c.7545A>C (p.Arg2515=)
c.7440A>C (p.Arg2480=)
c.7431A>C (p.Arg2477=)
c.7392A>C (p.Arg2464=)
c.7338A>C (p.Arg2446=)
c.7242A>C (p.Arg2414=)
c.7212A>C (p.Arg2404=)
c.7137A>C (p.Arg2379=)
c.7035A>C (p.Arg2345=)
c.6666A>C (p.Arg2222=)
5g.112843109A>GCA446210868APCc.7569A>G (p.Arg2523=)
c.*7521A>G (n.*7521A>G)
c.7461A>G (p.Arg2487=)
c.7515A>G (p.Arg2505=)
c.231-13540A>G
c.7545A>G (p.Arg2515=)
c.7440A>G (p.Arg2480=)
c.7431A>G (p.Arg2477=)
c.7392A>G (p.Arg2464=)
c.7338A>G (p.Arg2446=)
c.7242A>G (p.Arg2414=)
c.7212A>G (p.Arg2404=)
c.7137A>G (p.Arg2379=)
c.7035A>G (p.Arg2345=)
c.6666A>G (p.Arg2222=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843109A>TCA446210869APCc.7569A>T (p.Arg2523=)
c.*7521A>T (n.*7521A>T)
c.7461A>T (p.Arg2487=)
c.7515A>T (p.Arg2505=)
c.231-13540A>T
c.7545A>T (p.Arg2515=)
c.7440A>T (p.Arg2480=)
c.7431A>T (p.Arg2477=)
c.7392A>T (p.Arg2464=)
c.7338A>T (p.Arg2446=)
c.7242A>T (p.Arg2414=)
c.7212A>T (p.Arg2404=)
c.7137A>T (p.Arg2379=)
c.7035A>T (p.Arg2345=)
c.6666A>T (p.Arg2222=)
dbSNP
5g.112843110A=CA1573471449APCc.7570A= (p.Lys2524=)
c.*7522A= (n.*7522A=)
c.7462A= (p.Lys2488=)
c.7516A= (p.Lys2506=)
c.231-13539A=
c.7546A= (p.Lys2516=)
c.7441A= (p.Lys2481=)
c.7432A= (p.Lys2478=)
c.7393A= (p.Lys2465=)
c.7339A= (p.Lys2447=)
c.7243A= (p.Lys2415=)
c.7213A= (p.Lys2405=)
c.7138A= (p.Lys2380=)
c.7036A= (p.Lys2346=)
c.6667A= (p.Lys2223=)
5g.112843110A>CCA16037669APCc.7570A>C (p.Lys2524Gln)
c.*7522A>C (n.*7522A>C)
c.7462A>C (p.Lys2488Gln)
c.7516A>C (p.Lys2506Gln)
c.231-13539A>C
c.7546A>C (p.Lys2516Gln)
c.7441A>C (p.Lys2481Gln)
c.7432A>C (p.Lys2478Gln)
c.7393A>C (p.Lys2465Gln)
c.7339A>C (p.Lys2447Gln)
c.7243A>C (p.Lys2415Gln)
c.7213A>C (p.Lys2405Gln)
c.7138A>C (p.Lys2380Gln)
c.7036A>C (p.Lys2346Gln)
c.6667A>C (p.Lys2223Gln)
ClinVar dbSNP gnomAD v4
5g.112843110A>GCA16037670APCc.7570A>G (p.Lys2524Glu)
c.*7522A>G (n.*7522A>G)
c.7462A>G (p.Lys2488Glu)
c.7516A>G (p.Lys2506Glu)
c.231-13539A>G
c.7546A>G (p.Lys2516Glu)
c.7441A>G (p.Lys2481Glu)
c.7432A>G (p.Lys2478Glu)
c.7393A>G (p.Lys2465Glu)
c.7339A>G (p.Lys2447Glu)
c.7243A>G (p.Lys2415Glu)
c.7213A>G (p.Lys2405Glu)
c.7138A>G (p.Lys2380Glu)
c.7036A>G (p.Lys2346Glu)
c.6667A>G (p.Lys2223Glu)
dbSNP
5g.112843110A>TCA16037671APCc.7570A>T (p.Lys2524Ter)
c.*7522A>T (n.*7522A>T)
c.7462A>T (p.Lys2488Ter)
c.7516A>T (p.Lys2506Ter)
c.231-13539A>T
c.7546A>T (p.Lys2516Ter)
c.7441A>T (p.Lys2481Ter)
c.7432A>T (p.Lys2478Ter)
c.7393A>T (p.Lys2465Ter)
c.7339A>T (p.Lys2447Ter)
c.7243A>T (p.Lys2415Ter)
c.7213A>T (p.Lys2405Ter)
c.7138A>T (p.Lys2380Ter)
c.7036A>T (p.Lys2346Ter)
c.6667A>T (p.Lys2223Ter)
dbSNP
5g.112843111A=CA1573471453APCc.7571A= (p.Lys2524=)
c.*7523A= (n.*7523A=)
c.7463A= (p.Lys2488=)
c.7517A= (p.Lys2506=)
c.231-13538A=
c.7547A= (p.Lys2516=)
c.7442A= (p.Lys2481=)
c.7433A= (p.Lys2478=)
c.7394A= (p.Lys2465=)
c.7340A= (p.Lys2447=)
c.7244A= (p.Lys2415=)
c.7214A= (p.Lys2405=)
c.7139A= (p.Lys2380=)
c.7037A= (p.Lys2346=)
c.6668A= (p.Lys2223=)
5g.112843111A>CCA16037672APCc.7571A>C (p.Lys2524Thr)
c.*7523A>C (n.*7523A>C)
c.7463A>C (p.Lys2488Thr)
c.7517A>C (p.Lys2506Thr)
c.231-13538A>C
c.7547A>C (p.Lys2516Thr)
c.7442A>C (p.Lys2481Thr)
c.7433A>C (p.Lys2478Thr)
c.7394A>C (p.Lys2465Thr)
c.7340A>C (p.Lys2447Thr)
c.7244A>C (p.Lys2415Thr)
c.7214A>C (p.Lys2405Thr)
c.7139A>C (p.Lys2380Thr)
c.7037A>C (p.Lys2346Thr)
c.6668A>C (p.Lys2223Thr)
ClinVar dbSNP gnomAD v2
5g.112843111A>GCA16037673APCc.7571A>G (p.Lys2524Arg)
c.*7523A>G (n.*7523A>G)
c.7463A>G (p.Lys2488Arg)
c.7517A>G (p.Lys2506Arg)
c.231-13538A>G
c.7547A>G (p.Lys2516Arg)
c.7442A>G (p.Lys2481Arg)
c.7433A>G (p.Lys2478Arg)
c.7394A>G (p.Lys2465Arg)
c.7340A>G (p.Lys2447Arg)
c.7244A>G (p.Lys2415Arg)
c.7214A>G (p.Lys2405Arg)
c.7139A>G (p.Lys2380Arg)
c.7037A>G (p.Lys2346Arg)
c.6668A>G (p.Lys2223Arg)
dbSNP
5g.112843111A>TCA16037674APCc.7571A>T (p.Lys2524Ile)
c.*7523A>T (n.*7523A>T)
c.7463A>T (p.Lys2488Ile)
c.7517A>T (p.Lys2506Ile)
c.231-13538A>T
c.7547A>T (p.Lys2516Ile)
c.7442A>T (p.Lys2481Ile)
c.7433A>T (p.Lys2478Ile)
c.7394A>T (p.Lys2465Ile)
c.7340A>T (p.Lys2447Ile)
c.7244A>T (p.Lys2415Ile)
c.7214A>T (p.Lys2405Ile)
c.7139A>T (p.Lys2380Ile)
c.7037A>T (p.Lys2346Ile)
c.6668A>T (p.Lys2223Ile)
dbSNP
5g.112843112A=CA1573471463APCc.7572A= (p.Lys2524=)
c.*7524A= (n.*7524A=)
c.7464A= (p.Lys2488=)
c.7518A= (p.Lys2506=)
c.231-13537A=
c.7548A= (p.Lys2516=)
c.7443A= (p.Lys2481=)
c.7434A= (p.Lys2478=)
c.7395A= (p.Lys2465=)
c.7341A= (p.Lys2447=)
c.7245A= (p.Lys2415=)
c.7215A= (p.Lys2405=)
c.7140A= (p.Lys2380=)
c.7038A= (p.Lys2346=)
c.6669A= (p.Lys2223=)
5g.112843112A>CCA16037675APCc.7572A>C (p.Lys2524Asn)
c.*7524A>C (n.*7524A>C)
c.7464A>C (p.Lys2488Asn)
c.7518A>C (p.Lys2506Asn)
c.231-13537A>C
c.7548A>C (p.Lys2516Asn)
c.7443A>C (p.Lys2481Asn)
c.7434A>C (p.Lys2478Asn)
c.7395A>C (p.Lys2465Asn)
c.7341A>C (p.Lys2447Asn)
c.7245A>C (p.Lys2415Asn)
c.7215A>C (p.Lys2405Asn)
c.7140A>C (p.Lys2380Asn)
c.7038A>C (p.Lys2346Asn)
c.6669A>C (p.Lys2223Asn)
dbSNP
5g.112843112A>GCA10578445APCc.7572A>G (p.Lys2524=)
c.*7524A>G (n.*7524A>G)
c.7464A>G (p.Lys2488=)
c.7518A>G (p.Lys2506=)
c.231-13537A>G
c.7548A>G (p.Lys2516=)
c.7443A>G (p.Lys2481=)
c.7434A>G (p.Lys2478=)
c.7395A>G (p.Lys2465=)
c.7341A>G (p.Lys2447=)
c.7245A>G (p.Lys2415=)
c.7215A>G (p.Lys2405=)
c.7140A>G (p.Lys2380=)
c.7038A>G (p.Lys2346=)
c.6669A>G (p.Lys2223=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843112A>TCA16037676APCc.7572A>T (p.Lys2524Asn)
c.*7524A>T (n.*7524A>T)
c.7464A>T (p.Lys2488Asn)
c.7518A>T (p.Lys2506Asn)
c.231-13537A>T
c.7548A>T (p.Lys2516Asn)
c.7443A>T (p.Lys2481Asn)
c.7434A>T (p.Lys2478Asn)
c.7395A>T (p.Lys2465Asn)
c.7341A>T (p.Lys2447Asn)
c.7245A>T (p.Lys2415Asn)
c.7215A>T (p.Lys2405Asn)
c.7140A>T (p.Lys2380Asn)
c.7038A>T (p.Lys2346Asn)
c.6669A>T (p.Lys2223Asn)
ClinVar dbSNP
5g.112843113C>ACA16037677APCc.7573C>A (p.Leu2525Ile)
c.*7525C>A (n.*7525C>A)
c.7465C>A (p.Leu2489Ile)
c.7519C>A (p.Leu2507Ile)
c.231-13536C>A
c.7549C>A (p.Leu2517Ile)
c.7444C>A (p.Leu2482Ile)
c.7435C>A (p.Leu2479Ile)
c.7396C>A (p.Leu2466Ile)
c.7342C>A (p.Leu2448Ile)
c.7246C>A (p.Leu2416Ile)
c.7216C>A (p.Leu2406Ile)
c.7141C>A (p.Leu2381Ile)
c.7039C>A (p.Leu2347Ile)
c.6670C>A (p.Leu2224Ile)
5g.112843113C=CA1573471474APCc.7573C= (p.Leu2525=)
c.*7525C= (n.*7525C=)
c.7465C= (p.Leu2489=)
c.7519C= (p.Leu2507=)
c.231-13536C=
c.7549C= (p.Leu2517=)
c.7444C= (p.Leu2482=)
c.7435C= (p.Leu2479=)
c.7396C= (p.Leu2466=)
c.7342C= (p.Leu2448=)
c.7246C= (p.Leu2416=)
c.7216C= (p.Leu2406=)
c.7141C= (p.Leu2381=)
c.7039C= (p.Leu2347=)
c.6670C= (p.Leu2224=)
5g.112843113C>GCA16037678APCc.7573C>G (p.Leu2525Val)
c.*7525C>G (n.*7525C>G)
c.7465C>G (p.Leu2489Val)
c.7519C>G (p.Leu2507Val)
c.231-13536C>G
c.7549C>G (p.Leu2517Val)
c.7444C>G (p.Leu2482Val)
c.7435C>G (p.Leu2479Val)
c.7396C>G (p.Leu2466Val)
c.7342C>G (p.Leu2448Val)
c.7246C>G (p.Leu2416Val)
c.7216C>G (p.Leu2406Val)
c.7141C>G (p.Leu2381Val)
c.7039C>G (p.Leu2347Val)
c.6670C>G (p.Leu2224Val)
dbSNP
5g.112843113C>TCA16037679APCc.7573C>T (p.Leu2525Phe)
c.*7525C>T (n.*7525C>T)
c.7465C>T (p.Leu2489Phe)
c.7519C>T (p.Leu2507Phe)
c.231-13536C>T
c.7549C>T (p.Leu2517Phe)
c.7444C>T (p.Leu2482Phe)
c.7435C>T (p.Leu2479Phe)
c.7396C>T (p.Leu2466Phe)
c.7342C>T (p.Leu2448Phe)
c.7246C>T (p.Leu2416Phe)
c.7216C>T (p.Leu2406Phe)
c.7141C>T (p.Leu2381Phe)
c.7039C>T (p.Leu2347Phe)
c.6670C>T (p.Leu2224Phe)
ClinVar dbSNP gnomAD v4
5g.112843114T>ACA16037680APCc.7574T>A (p.Leu2525His)
c.*7526T>A (n.*7526T>A)
c.7466T>A (p.Leu2489His)
c.7520T>A (p.Leu2507His)
c.231-13535T>A
c.7550T>A (p.Leu2517His)
c.7445T>A (p.Leu2482His)
c.7436T>A (p.Leu2479His)
c.7397T>A (p.Leu2466His)
c.7343T>A (p.Leu2448His)
c.7247T>A (p.Leu2416His)
c.7217T>A (p.Leu2406His)
c.7142T>A (p.Leu2381His)
c.7040T>A (p.Leu2347His)
c.6671T>A (p.Leu2224His)
5g.112843114T>CCA16037681APCc.7574T>C (p.Leu2525Pro)
c.*7526T>C (n.*7526T>C)
c.7466T>C (p.Leu2489Pro)
c.7520T>C (p.Leu2507Pro)
c.231-13535T>C
c.7550T>C (p.Leu2517Pro)
c.7445T>C (p.Leu2482Pro)
c.7436T>C (p.Leu2479Pro)
c.7397T>C (p.Leu2466Pro)
c.7343T>C (p.Leu2448Pro)
c.7247T>C (p.Leu2416Pro)
c.7217T>C (p.Leu2406Pro)
c.7142T>C (p.Leu2381Pro)
c.7040T>C (p.Leu2347Pro)
c.6671T>C (p.Leu2224Pro)
ClinVar
5g.112843114T>GCA16037682APCc.7574T>G (p.Leu2525Arg)
c.*7526T>G (n.*7526T>G)
c.7466T>G (p.Leu2489Arg)
c.7520T>G (p.Leu2507Arg)
c.231-13535T>G
c.7550T>G (p.Leu2517Arg)
c.7445T>G (p.Leu2482Arg)
c.7436T>G (p.Leu2479Arg)
c.7397T>G (p.Leu2466Arg)
c.7343T>G (p.Leu2448Arg)
c.7247T>G (p.Leu2416Arg)
c.7217T>G (p.Leu2406Arg)
c.7142T>G (p.Leu2381Arg)
c.7040T>G (p.Leu2347Arg)
c.6671T>G (p.Leu2224Arg)
5g.112843115C>ACA446210870APCc.7575C>A (p.Leu2525=)
c.*7527C>A (n.*7527C>A)
c.7467C>A (p.Leu2489=)
c.7521C>A (p.Leu2507=)
c.231-13534C>A
c.7551C>A (p.Leu2517=)
c.7446C>A (p.Leu2482=)
c.7437C>A (p.Leu2479=)
c.7398C>A (p.Leu2466=)
c.7344C>A (p.Leu2448=)
c.7248C>A (p.Leu2416=)
c.7218C>A (p.Leu2406=)
c.7143C>A (p.Leu2381=)
c.7041C>A (p.Leu2347=)
c.6672C>A (p.Leu2224=)
dbSNP
5g.112843115C=CA1573471495APCc.7575C= (p.Leu2525=)
c.*7527C= (n.*7527C=)
c.7467C= (p.Leu2489=)
c.7521C= (p.Leu2507=)
c.231-13534C=
c.7551C= (p.Leu2517=)
c.7446C= (p.Leu2482=)
c.7437C= (p.Leu2479=)
c.7398C= (p.Leu2466=)
c.7344C= (p.Leu2448=)
c.7248C= (p.Leu2416=)
c.7218C= (p.Leu2406=)
c.7143C= (p.Leu2381=)
c.7041C= (p.Leu2347=)
c.6672C= (p.Leu2224=)
5g.112843115C>GCA446210871APCc.7575C>G (p.Leu2525=)
c.*7527C>G (n.*7527C>G)
c.7467C>G (p.Leu2489=)
c.7521C>G (p.Leu2507=)
c.231-13534C>G
c.7551C>G (p.Leu2517=)
c.7446C>G (p.Leu2482=)
c.7437C>G (p.Leu2479=)
c.7398C>G (p.Leu2466=)
c.7344C>G (p.Leu2448=)
c.7248C>G (p.Leu2416=)
c.7218C>G (p.Leu2406=)
c.7143C>G (p.Leu2381=)
c.7041C>G (p.Leu2347=)
c.6672C>G (p.Leu2224=)
ClinVar dbSNP
5g.112843115C>TCA446210872APCc.7575C>T (p.Leu2525=)
c.*7527C>T (n.*7527C>T)
c.7467C>T (p.Leu2489=)
c.7521C>T (p.Leu2507=)
c.231-13534C>T
c.7551C>T (p.Leu2517=)
c.7446C>T (p.Leu2482=)
c.7437C>T (p.Leu2479=)
c.7398C>T (p.Leu2466=)
c.7344C>T (p.Leu2448=)
c.7248C>T (p.Leu2416=)
c.7218C>T (p.Leu2406=)
c.7143C>T (p.Leu2381=)
c.7041C>T (p.Leu2347=)
c.6672C>T (p.Leu2224=)
dbSNP
5g.112843116C>ACA16037683APCc.7576C>A (p.Pro2526Thr)
c.*7528C>A (n.*7528C>A)
c.7468C>A (p.Pro2490Thr)
c.7522C>A (p.Pro2508Thr)
c.231-13533C>A
c.7552C>A (p.Pro2518Thr)
c.7447C>A (p.Pro2483Thr)
c.7438C>A (p.Pro2480Thr)
c.7399C>A (p.Pro2467Thr)
c.7345C>A (p.Pro2449Thr)
c.7249C>A (p.Pro2417Thr)
c.7219C>A (p.Pro2407Thr)
c.7144C>A (p.Pro2382Thr)
c.7042C>A (p.Pro2348Thr)
c.6673C>A (p.Pro2225Thr)
dbSNP
5g.112843116C=CA1573471500APCc.7576C= (p.Pro2526=)
c.*7528C= (n.*7528C=)
c.7468C= (p.Pro2490=)
c.7522C= (p.Pro2508=)
c.231-13533C=
c.7552C= (p.Pro2518=)
c.7447C= (p.Pro2483=)
c.7438C= (p.Pro2480=)
c.7399C= (p.Pro2467=)
c.7345C= (p.Pro2449=)
c.7249C= (p.Pro2417=)
c.7219C= (p.Pro2407=)
c.7144C= (p.Pro2382=)
c.7042C= (p.Pro2348=)
c.6673C= (p.Pro2225=)
5g.112843116C>GCA16037684APCc.7576C>G (p.Pro2526Ala)
c.*7528C>G (n.*7528C>G)
c.7468C>G (p.Pro2490Ala)
c.7522C>G (p.Pro2508Ala)
c.231-13533C>G
c.7552C>G (p.Pro2518Ala)
c.7447C>G (p.Pro2483Ala)
c.7438C>G (p.Pro2480Ala)
c.7399C>G (p.Pro2467Ala)
c.7345C>G (p.Pro2449Ala)
c.7249C>G (p.Pro2417Ala)
c.7219C>G (p.Pro2407Ala)
c.7144C>G (p.Pro2382Ala)
c.7042C>G (p.Pro2348Ala)
c.6673C>G (p.Pro2225Ala)
dbSNP
5g.112843116C>TCA16037685APCc.7576C>T (p.Pro2526Ser)
c.*7528C>T (n.*7528C>T)
c.7468C>T (p.Pro2490Ser)
c.7522C>T (p.Pro2508Ser)
c.231-13533C>T
c.7552C>T (p.Pro2518Ser)
c.7447C>T (p.Pro2483Ser)
c.7438C>T (p.Pro2480Ser)
c.7399C>T (p.Pro2467Ser)
c.7345C>T (p.Pro2449Ser)
c.7249C>T (p.Pro2417Ser)
c.7219C>T (p.Pro2407Ser)
c.7144C>T (p.Pro2382Ser)
c.7042C>T (p.Pro2348Ser)
c.6673C>T (p.Pro2225Ser)
dbSNP
5g.112843117C>ACA16037686APCc.7577C>A (p.Pro2526Gln)
c.*7529C>A (n.*7529C>A)
c.7469C>A (p.Pro2490Gln)
c.7523C>A (p.Pro2508Gln)
c.231-13532C>A
c.7553C>A (p.Pro2518Gln)
c.7448C>A (p.Pro2483Gln)
c.7439C>A (p.Pro2480Gln)
c.7400C>A (p.Pro2467Gln)
c.7346C>A (p.Pro2449Gln)
c.7250C>A (p.Pro2417Gln)
c.7220C>A (p.Pro2407Gln)
c.7145C>A (p.Pro2382Gln)
c.7043C>A (p.Pro2348Gln)
c.6674C>A (p.Pro2225Gln)
5g.112843117C>GCA16037687APCc.7577C>G (p.Pro2526Arg)
c.*7529C>G (n.*7529C>G)
c.7469C>G (p.Pro2490Arg)
c.7523C>G (p.Pro2508Arg)
c.231-13532C>G
c.7553C>G (p.Pro2518Arg)
c.7448C>G (p.Pro2483Arg)
c.7439C>G (p.Pro2480Arg)
c.7400C>G (p.Pro2467Arg)
c.7346C>G (p.Pro2449Arg)
c.7250C>G (p.Pro2417Arg)
c.7220C>G (p.Pro2407Arg)
c.7145C>G (p.Pro2382Arg)
c.7043C>G (p.Pro2348Arg)
c.6674C>G (p.Pro2225Arg)
5g.112843117C>TCA16037688APCc.7577C>T (p.Pro2526Leu)
c.*7529C>T (n.*7529C>T)
c.7469C>T (p.Pro2490Leu)
c.7523C>T (p.Pro2508Leu)
c.231-13532C>T
c.7553C>T (p.Pro2518Leu)
c.7448C>T (p.Pro2483Leu)
c.7439C>T (p.Pro2480Leu)
c.7400C>T (p.Pro2467Leu)
c.7346C>T (p.Pro2449Leu)
c.7250C>T (p.Pro2417Leu)
c.7220C>T (p.Pro2407Leu)
c.7145C>T (p.Pro2382Leu)
c.7043C>T (p.Pro2348Leu)
c.6674C>T (p.Pro2225Leu)
gnomAD v4
5g.112843118A>CCA446210873APCc.7578A>C (p.Pro2526=)
c.*7530A>C (n.*7530A>C)
c.7470A>C (p.Pro2490=)
c.7524A>C (p.Pro2508=)
c.231-13531A>C
c.7554A>C (p.Pro2518=)
c.7449A>C (p.Pro2483=)
c.7440A>C (p.Pro2480=)
c.7401A>C (p.Pro2467=)
c.7347A>C (p.Pro2449=)
c.7251A>C (p.Pro2417=)
c.7221A>C (p.Pro2407=)
c.7146A>C (p.Pro2382=)
c.7044A>C (p.Pro2348=)
c.6675A>C (p.Pro2225=)
dbSNP
5g.112843118A>GCA446210875APCc.7578A>G (p.Pro2526=)
c.*7530A>G (n.*7530A>G)
c.7470A>G (p.Pro2490=)
c.7524A>G (p.Pro2508=)
c.231-13531A>G
c.7554A>G (p.Pro2518=)
c.7449A>G (p.Pro2483=)
c.7440A>G (p.Pro2480=)
c.7401A>G (p.Pro2467=)
c.7347A>G (p.Pro2449=)
c.7251A>G (p.Pro2417=)
c.7221A>G (p.Pro2407=)
c.7146A>G (p.Pro2382=)
c.7044A>G (p.Pro2348=)
c.6675A>G (p.Pro2225=)
dbSNP
5g.112843118A>TCA446210874APCc.7578A>T (p.Pro2526=)
c.*7530A>T (n.*7530A>T)
c.7470A>T (p.Pro2490=)
c.7524A>T (p.Pro2508=)
c.231-13531A>T
c.7554A>T (p.Pro2518=)
c.7449A>T (p.Pro2483=)
c.7440A>T (p.Pro2480=)
c.7401A>T (p.Pro2467=)
c.7347A>T (p.Pro2449=)
c.7251A>T (p.Pro2417=)
c.7221A>T (p.Pro2407=)
c.7146A>T (p.Pro2382=)
c.7044A>T (p.Pro2348=)
c.6675A>T (p.Pro2225=)
ClinVar dbSNP
5g.112843119C>ACA16037689APCc.7579C>A (p.Pro2527Thr)
c.*7531C>A (n.*7531C>A)
c.7471C>A (p.Pro2491Thr)
c.7525C>A (p.Pro2509Thr)
c.231-13530C>A
c.7555C>A (p.Pro2519Thr)
c.7450C>A (p.Pro2484Thr)
c.7441C>A (p.Pro2481Thr)
c.7402C>A (p.Pro2468Thr)
c.7348C>A (p.Pro2450Thr)
c.7252C>A (p.Pro2418Thr)
c.7222C>A (p.Pro2408Thr)
c.7147C>A (p.Pro2383Thr)
c.7045C>A (p.Pro2349Thr)
c.6676C>A (p.Pro2226Thr)
dbSNP
5g.112843119C=CA1573471508APCc.7579C= (p.Pro2527=)
c.*7531C= (n.*7531C=)
c.7471C= (p.Pro2491=)
c.7525C= (p.Pro2509=)
c.231-13530C=
c.7555C= (p.Pro2519=)
c.7450C= (p.Pro2484=)
c.7441C= (p.Pro2481=)
c.7402C= (p.Pro2468=)
c.7348C= (p.Pro2450=)
c.7252C= (p.Pro2418=)
c.7222C= (p.Pro2408=)
c.7147C= (p.Pro2383=)
c.7045C= (p.Pro2349=)
c.6676C= (p.Pro2226=)
5g.112843119C>GCA16037690APCc.7579C>G (p.Pro2527Ala)
c.*7531C>G (n.*7531C>G)
c.7471C>G (p.Pro2491Ala)
c.7525C>G (p.Pro2509Ala)
c.231-13530C>G
c.7555C>G (p.Pro2519Ala)
c.7450C>G (p.Pro2484Ala)
c.7441C>G (p.Pro2481Ala)
c.7402C>G (p.Pro2468Ala)
c.7348C>G (p.Pro2450Ala)
c.7252C>G (p.Pro2418Ala)
c.7222C>G (p.Pro2408Ala)
c.7147C>G (p.Pro2383Ala)
c.7045C>G (p.Pro2349Ala)
c.6676C>G (p.Pro2226Ala)
dbSNP
5g.112843119C>TCA16037691APCc.7579C>T (p.Pro2527Ser)
c.*7531C>T (n.*7531C>T)
c.7471C>T (p.Pro2491Ser)
c.7525C>T (p.Pro2509Ser)
c.231-13530C>T
c.7555C>T (p.Pro2519Ser)
c.7450C>T (p.Pro2484Ser)
c.7441C>T (p.Pro2481Ser)
c.7402C>T (p.Pro2468Ser)
c.7348C>T (p.Pro2450Ser)
c.7252C>T (p.Pro2418Ser)
c.7222C>T (p.Pro2408Ser)
c.7147C>T (p.Pro2383Ser)
c.7045C>T (p.Pro2349Ser)
c.6676C>T (p.Pro2226Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843120C>ACA16037692APCc.7580C>A (p.Pro2527His)
c.*7532C>A (n.*7532C>A)
c.7472C>A (p.Pro2491His)
c.7526C>A (p.Pro2509His)
c.231-13529C>A
c.7556C>A (p.Pro2519His)
c.7451C>A (p.Pro2484His)
c.7442C>A (p.Pro2481His)
c.7403C>A (p.Pro2468His)
c.7349C>A (p.Pro2450His)
c.7253C>A (p.Pro2418His)
c.7223C>A (p.Pro2408His)
c.7148C>A (p.Pro2383His)
c.7046C>A (p.Pro2349His)
c.6677C>A (p.Pro2226His)
ClinVar dbSNP
5g.112843120C=CA1573471519APCc.7580C= (p.Pro2527=)
c.*7532C= (n.*7532C=)
c.7472C= (p.Pro2491=)
c.7526C= (p.Pro2509=)
c.231-13529C=
c.7556C= (p.Pro2519=)
c.7451C= (p.Pro2484=)
c.7442C= (p.Pro2481=)
c.7403C= (p.Pro2468=)
c.7349C= (p.Pro2450=)
c.7253C= (p.Pro2418=)
c.7223C= (p.Pro2408=)
c.7148C= (p.Pro2383=)
c.7046C= (p.Pro2349=)
c.6677C= (p.Pro2226=)
5g.112843120C>GCA16037693APCc.7580C>G (p.Pro2527Arg)
c.*7532C>G (n.*7532C>G)
c.7472C>G (p.Pro2491Arg)
c.7526C>G (p.Pro2509Arg)
c.231-13529C>G
c.7556C>G (p.Pro2519Arg)
c.7451C>G (p.Pro2484Arg)
c.7442C>G (p.Pro2481Arg)
c.7403C>G (p.Pro2468Arg)
c.7349C>G (p.Pro2450Arg)
c.7253C>G (p.Pro2418Arg)
c.7223C>G (p.Pro2408Arg)
c.7148C>G (p.Pro2383Arg)
c.7046C>G (p.Pro2349Arg)
c.6677C>G (p.Pro2226Arg)
dbSNP
5g.112843120C>TCA16037694APCc.7580C>T (p.Pro2527Leu)
c.*7532C>T (n.*7532C>T)
c.7472C>T (p.Pro2491Leu)
c.7526C>T (p.Pro2509Leu)
c.231-13529C>T
c.7556C>T (p.Pro2519Leu)
c.7451C>T (p.Pro2484Leu)
c.7442C>T (p.Pro2481Leu)
c.7403C>T (p.Pro2468Leu)
c.7349C>T (p.Pro2450Leu)
c.7253C>T (p.Pro2418Leu)
c.7223C>T (p.Pro2408Leu)
c.7148C>T (p.Pro2383Leu)
c.7046C>T (p.Pro2349Leu)
c.6677C>T (p.Pro2226Leu)
ClinVar dbSNP
5g.112843121T>ACA446210878APCc.7581T>A (p.Pro2527=)
c.*7533T>A (n.*7533T>A)
c.7473T>A (p.Pro2491=)
c.7527T>A (p.Pro2509=)
c.231-13528T>A
c.7557T>A (p.Pro2519=)
c.7452T>A (p.Pro2484=)
c.7443T>A (p.Pro2481=)
c.7404T>A (p.Pro2468=)
c.7350T>A (p.Pro2450=)
c.7254T>A (p.Pro2418=)
c.7224T>A (p.Pro2408=)
c.7149T>A (p.Pro2383=)
c.7047T>A (p.Pro2349=)
c.6678T>A (p.Pro2226=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843121T>CCA446210877APCc.7581T>C (p.Pro2527=)
c.*7533T>C (n.*7533T>C)
c.7473T>C (p.Pro2491=)
c.7527T>C (p.Pro2509=)
c.231-13528T>C
c.7557T>C (p.Pro2519=)
c.7452T>C (p.Pro2484=)
c.7443T>C (p.Pro2481=)
c.7404T>C (p.Pro2468=)
c.7350T>C (p.Pro2450=)
c.7254T>C (p.Pro2418=)
c.7224T>C (p.Pro2408=)
c.7149T>C (p.Pro2383=)
c.7047T>C (p.Pro2349=)
c.6678T>C (p.Pro2226=)
5g.112843121T>GCA446210876APCc.7581T>G (p.Pro2527=)
c.*7533T>G (n.*7533T>G)
c.7473T>G (p.Pro2491=)
c.7527T>G (p.Pro2509=)
c.231-13528T>G
c.7557T>G (p.Pro2519=)
c.7452T>G (p.Pro2484=)
c.7443T>G (p.Pro2481=)
c.7404T>G (p.Pro2468=)
c.7350T>G (p.Pro2450=)
c.7254T>G (p.Pro2418=)
c.7224T>G (p.Pro2408=)
c.7149T>G (p.Pro2383=)
c.7047T>G (p.Pro2349=)
c.6678T>G (p.Pro2226=)
5g.112843121T=CA1573471528APCc.7581T= (p.Pro2527=)
c.*7533T= (n.*7533T=)
c.7473T= (p.Pro2491=)
c.7527T= (p.Pro2509=)
c.231-13528T=
c.7557T= (p.Pro2519=)
c.7452T= (p.Pro2484=)
c.7443T= (p.Pro2481=)
c.7404T= (p.Pro2468=)
c.7350T= (p.Pro2450=)
c.7254T= (p.Pro2418=)
c.7224T= (p.Pro2408=)
c.7149T= (p.Pro2383=)
c.7047T= (p.Pro2349=)
c.6678T= (p.Pro2226=)
5g.112843122A=CA1573471536APCc.7582A= (p.Asn2528=)
c.*7534A= (n.*7534A=)
c.7474A= (p.Asn2492=)
c.7528A= (p.Asn2510=)
c.231-13527A=
c.7558A= (p.Asn2520=)
c.7453A= (p.Asn2485=)
c.7444A= (p.Asn2482=)
c.7405A= (p.Asn2469=)
c.7351A= (p.Asn2451=)
c.7255A= (p.Asn2419=)
c.7225A= (p.Asn2409=)
c.7150A= (p.Asn2384=)
c.7048A= (p.Asn2350=)
c.6679A= (p.Asn2227=)
5g.112843122A>CCA16037695APCc.7582A>C (p.Asn2528His)
c.*7534A>C (n.*7534A>C)
c.7474A>C (p.Asn2492His)
c.7528A>C (p.Asn2510His)
c.231-13527A>C
c.7558A>C (p.Asn2520His)
c.7453A>C (p.Asn2485His)
c.7444A>C (p.Asn2482His)
c.7405A>C (p.Asn2469His)
c.7351A>C (p.Asn2451His)
c.7255A>C (p.Asn2419His)
c.7225A>C (p.Asn2409His)
c.7150A>C (p.Asn2384His)
c.7048A>C (p.Asn2350His)
c.6679A>C (p.Asn2227His)
5g.112843122A>GCA013762APCc.7582A>G (p.Asn2528Asp)
c.*7534A>G (n.*7534A>G)
c.7474A>G (p.Asn2492Asp)
c.7528A>G (p.Asn2510Asp)
c.231-13527A>G
c.7558A>G (p.Asn2520Asp)
c.7453A>G (p.Asn2485Asp)
c.7444A>G (p.Asn2482Asp)
c.7405A>G (p.Asn2469Asp)
c.7351A>G (p.Asn2451Asp)
c.7255A>G (p.Asn2419Asp)
c.7225A>G (p.Asn2409Asp)
c.7150A>G (p.Asn2384Asp)
c.7048A>G (p.Asn2350Asp)
c.6679A>G (p.Asn2227Asp)
ClinVar dbSNP
5g.112843122A>TCA16037696APCc.7582A>T (p.Asn2528Tyr)
c.*7534A>T (n.*7534A>T)
c.7474A>T (p.Asn2492Tyr)
c.7528A>T (p.Asn2510Tyr)
c.231-13527A>T
c.7558A>T (p.Asn2520Tyr)
c.7453A>T (p.Asn2485Tyr)
c.7444A>T (p.Asn2482Tyr)
c.7405A>T (p.Asn2469Tyr)
c.7351A>T (p.Asn2451Tyr)
c.7255A>T (p.Asn2419Tyr)
c.7225A>T (p.Asn2409Tyr)
c.7150A>T (p.Asn2384Tyr)
c.7048A>T (p.Asn2350Tyr)
c.6679A>T (p.Asn2227Tyr)
dbSNP
5g.112843123A=CA1573471548APCc.7583A= (p.Asn2528=)
c.*7535A= (n.*7535A=)
c.7475A= (p.Asn2492=)
c.7529A= (p.Asn2510=)
c.231-13526A=
c.7559A= (p.Asn2520=)
c.7454A= (p.Asn2485=)
c.7445A= (p.Asn2482=)
c.7406A= (p.Asn2469=)
c.7352A= (p.Asn2451=)
c.7256A= (p.Asn2419=)
c.7226A= (p.Asn2409=)
c.7151A= (p.Asn2384=)
c.7049A= (p.Asn2350=)
c.6680A= (p.Asn2227=)
5g.112843123A>CCA16037697APCc.7583A>C (p.Asn2528Thr)
c.*7535A>C (n.*7535A>C)
c.7475A>C (p.Asn2492Thr)
c.7529A>C (p.Asn2510Thr)
c.231-13526A>C
c.7559A>C (p.Asn2520Thr)
c.7454A>C (p.Asn2485Thr)
c.7445A>C (p.Asn2482Thr)
c.7406A>C (p.Asn2469Thr)
c.7352A>C (p.Asn2451Thr)
c.7256A>C (p.Asn2419Thr)
c.7226A>C (p.Asn2409Thr)
c.7151A>C (p.Asn2384Thr)
c.7049A>C (p.Asn2350Thr)
c.6680A>C (p.Asn2227Thr)
dbSNP
5g.112843123A>GCA10578446APCc.7583A>G (p.Asn2528Ser)
c.*7535A>G (n.*7535A>G)
c.7475A>G (p.Asn2492Ser)
c.7529A>G (p.Asn2510Ser)
c.231-13526A>G
c.7559A>G (p.Asn2520Ser)
c.7454A>G (p.Asn2485Ser)
c.7445A>G (p.Asn2482Ser)
c.7406A>G (p.Asn2469Ser)
c.7352A>G (p.Asn2451Ser)
c.7256A>G (p.Asn2419Ser)
c.7226A>G (p.Asn2409Ser)
c.7151A>G (p.Asn2384Ser)
c.7049A>G (p.Asn2350Ser)
c.6680A>G (p.Asn2227Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843123A>TCA16037698APCc.7583A>T (p.Asn2528Ile)
c.*7535A>T (n.*7535A>T)
c.7475A>T (p.Asn2492Ile)
c.7529A>T (p.Asn2510Ile)
c.231-13526A>T
c.7559A>T (p.Asn2520Ile)
c.7454A>T (p.Asn2485Ile)
c.7445A>T (p.Asn2482Ile)
c.7406A>T (p.Asn2469Ile)
c.7352A>T (p.Asn2451Ile)
c.7256A>T (p.Asn2419Ile)
c.7226A>T (p.Asn2409Ile)
c.7151A>T (p.Asn2384Ile)
c.7049A>T (p.Asn2350Ile)
c.6680A>T (p.Asn2227Ile)
dbSNP
5g.112843124T>ACA16037699APCc.7584T>A (p.Asn2528Lys)
c.*7536T>A (n.*7536T>A)
c.7476T>A (p.Asn2492Lys)
c.7530T>A (p.Asn2510Lys)
c.231-13525T>A
c.7560T>A (p.Asn2520Lys)
c.7455T>A (p.Asn2485Lys)
c.7446T>A (p.Asn2482Lys)
c.7407T>A (p.Asn2469Lys)
c.7353T>A (p.Asn2451Lys)
c.7257T>A (p.Asn2419Lys)
c.7227T>A (p.Asn2409Lys)
c.7152T>A (p.Asn2384Lys)
c.7050T>A (p.Asn2350Lys)
c.6681T>A (p.Asn2227Lys)
dbSNP
5g.112843124T>CCA446210879APCc.7584T>C (p.Asn2528=)
c.*7536T>C (n.*7536T>C)
c.7476T>C (p.Asn2492=)
c.7530T>C (p.Asn2510=)
c.231-13525T>C
c.7560T>C (p.Asn2520=)
c.7455T>C (p.Asn2485=)
c.7446T>C (p.Asn2482=)
c.7407T>C (p.Asn2469=)
c.7353T>C (p.Asn2451=)
c.7257T>C (p.Asn2419=)
c.7227T>C (p.Asn2409=)
c.7152T>C (p.Asn2384=)
c.7050T>C (p.Asn2350=)
c.6681T>C (p.Asn2227=)
ClinVar dbSNP
5g.112843124T>GCA16037700APCc.7584T>G (p.Asn2528Lys)
c.*7536T>G (n.*7536T>G)
c.7476T>G (p.Asn2492Lys)
c.7530T>G (p.Asn2510Lys)
c.231-13525T>G
c.7560T>G (p.Asn2520Lys)
c.7455T>G (p.Asn2485Lys)
c.7446T>G (p.Asn2482Lys)
c.7407T>G (p.Asn2469Lys)
c.7353T>G (p.Asn2451Lys)
c.7257T>G (p.Asn2419Lys)
c.7227T>G (p.Asn2409Lys)
c.7152T>G (p.Asn2384Lys)
c.7050T>G (p.Asn2350Lys)
c.6681T>G (p.Asn2227Lys)
dbSNP
5g.112843125C>ACA16037701APCc.7585C>A (p.Leu2529Ile)
c.*7537C>A (n.*7537C>A)
c.7477C>A (p.Leu2493Ile)
c.7531C>A (p.Leu2511Ile)
c.231-13524C>A
c.7561C>A (p.Leu2521Ile)
c.7456C>A (p.Leu2486Ile)
c.7447C>A (p.Leu2483Ile)
c.7408C>A (p.Leu2470Ile)
c.7354C>A (p.Leu2452Ile)
c.7258C>A (p.Leu2420Ile)
c.7228C>A (p.Leu2410Ile)
c.7153C>A (p.Leu2385Ile)
c.7051C>A (p.Leu2351Ile)
c.6682C>A (p.Leu2228Ile)
gnomAD v4
5g.112843125C=CA1573471563APCc.7585C= (p.Leu2529=)
c.*7537C= (n.*7537C=)
c.7477C= (p.Leu2493=)
c.7531C= (p.Leu2511=)
c.231-13524C=
c.7561C= (p.Leu2521=)
c.7456C= (p.Leu2486=)
c.7447C= (p.Leu2483=)
c.7408C= (p.Leu2470=)
c.7354C= (p.Leu2452=)
c.7258C= (p.Leu2420=)
c.7228C= (p.Leu2410=)
c.7153C= (p.Leu2385=)
c.7051C= (p.Leu2351=)
c.6682C= (p.Leu2228=)
5g.112843125C>GCA16037702APCc.7585C>G (p.Leu2529Val)
c.*7537C>G (n.*7537C>G)
c.7477C>G (p.Leu2493Val)
c.7531C>G (p.Leu2511Val)
c.231-13524C>G
c.7561C>G (p.Leu2521Val)
c.7456C>G (p.Leu2486Val)
c.7447C>G (p.Leu2483Val)
c.7408C>G (p.Leu2470Val)
c.7354C>G (p.Leu2452Val)
c.7258C>G (p.Leu2420Val)
c.7228C>G (p.Leu2410Val)
c.7153C>G (p.Leu2385Val)
c.7051C>G (p.Leu2351Val)
c.6682C>G (p.Leu2228Val)
ClinVar dbSNP
5g.112843125C>TCA013771APCc.7585C>T (p.Leu2529Phe)
c.*7537C>T (n.*7537C>T)
c.7477C>T (p.Leu2493Phe)
c.7531C>T (p.Leu2511Phe)
c.231-13524C>T
c.7561C>T (p.Leu2521Phe)
c.7456C>T (p.Leu2486Phe)
c.7447C>T (p.Leu2483Phe)
c.7408C>T (p.Leu2470Phe)
c.7354C>T (p.Leu2452Phe)
c.7258C>T (p.Leu2420Phe)
c.7228C>T (p.Leu2410Phe)
c.7153C>T (p.Leu2385Phe)
c.7051C>T (p.Leu2351Phe)
c.6682C>T (p.Leu2228Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843126T>ACA16037703APCc.7586T>A (p.Leu2529His)
c.*7538T>A (n.*7538T>A)
c.7478T>A (p.Leu2493His)
c.7532T>A (p.Leu2511His)
c.231-13523T>A
c.7562T>A (p.Leu2521His)
c.7457T>A (p.Leu2486His)
c.7448T>A (p.Leu2483His)
c.7409T>A (p.Leu2470His)
c.7355T>A (p.Leu2452His)
c.7259T>A (p.Leu2420His)
c.7229T>A (p.Leu2410His)
c.7154T>A (p.Leu2385His)
c.7052T>A (p.Leu2351His)
c.6683T>A (p.Leu2228His)
dbSNP
5g.112843126T>CCA16037704APCc.7586T>C (p.Leu2529Pro)
c.*7538T>C (n.*7538T>C)
c.7478T>C (p.Leu2493Pro)
c.7532T>C (p.Leu2511Pro)
c.231-13523T>C
c.7562T>C (p.Leu2521Pro)
c.7457T>C (p.Leu2486Pro)
c.7448T>C (p.Leu2483Pro)
c.7409T>C (p.Leu2470Pro)
c.7355T>C (p.Leu2452Pro)
c.7259T>C (p.Leu2420Pro)
c.7229T>C (p.Leu2410Pro)
c.7154T>C (p.Leu2385Pro)
c.7052T>C (p.Leu2351Pro)
c.6683T>C (p.Leu2228Pro)
ClinVar dbSNP
5g.112843126T>GCA16037705APCc.7586T>G (p.Leu2529Arg)
c.*7538T>G (n.*7538T>G)
c.7478T>G (p.Leu2493Arg)
c.7532T>G (p.Leu2511Arg)
c.231-13523T>G
c.7562T>G (p.Leu2521Arg)
c.7457T>G (p.Leu2486Arg)
c.7448T>G (p.Leu2483Arg)
c.7409T>G (p.Leu2470Arg)
c.7355T>G (p.Leu2452Arg)
c.7259T>G (p.Leu2420Arg)
c.7229T>G (p.Leu2410Arg)
c.7154T>G (p.Leu2385Arg)
c.7052T>G (p.Leu2351Arg)
c.6683T>G (p.Leu2228Arg)
5g.112843126T=CA1573471575APCc.7586T= (p.Leu2529=)
c.*7538T= (n.*7538T=)
c.7478T= (p.Leu2493=)
c.7532T= (p.Leu2511=)
c.231-13523T=
c.7562T= (p.Leu2521=)
c.7457T= (p.Leu2486=)
c.7448T= (p.Leu2483=)
c.7409T= (p.Leu2470=)
c.7355T= (p.Leu2452=)
c.7259T= (p.Leu2420=)
c.7229T= (p.Leu2410=)
c.7154T= (p.Leu2385=)
c.7052T= (p.Leu2351=)
c.6683T= (p.Leu2228=)
5g.112843127C>ACA446210880APCc.7587C>A (p.Leu2529=)
c.*7539C>A (n.*7539C>A)
c.7479C>A (p.Leu2493=)
c.7533C>A (p.Leu2511=)
c.231-13522C>A
c.7563C>A (p.Leu2521=)
c.7458C>A (p.Leu2486=)
c.7449C>A (p.Leu2483=)
c.7410C>A (p.Leu2470=)
c.7356C>A (p.Leu2452=)
c.7260C>A (p.Leu2420=)
c.7230C>A (p.Leu2410=)
c.7155C>A (p.Leu2385=)
c.7053C>A (p.Leu2351=)
c.6684C>A (p.Leu2228=)
dbSNP
5g.112843127C=CA1573471600APCc.7587C= (p.Leu2529=)
c.*7539C= (n.*7539C=)
c.7479C= (p.Leu2493=)
c.7533C= (p.Leu2511=)
c.231-13522C=
c.7563C= (p.Leu2521=)
c.7458C= (p.Leu2486=)
c.7449C= (p.Leu2483=)
c.7410C= (p.Leu2470=)
c.7356C= (p.Leu2452=)
c.7260C= (p.Leu2420=)
c.7230C= (p.Leu2410=)
c.7155C= (p.Leu2385=)
c.7053C= (p.Leu2351=)
c.6684C= (p.Leu2228=)
5g.112843127C>GCA446210881APCc.7587C>G (p.Leu2529=)
c.*7539C>G (n.*7539C>G)
c.7479C>G (p.Leu2493=)
c.7533C>G (p.Leu2511=)
c.231-13522C>G
c.7563C>G (p.Leu2521=)
c.7458C>G (p.Leu2486=)
c.7449C>G (p.Leu2483=)
c.7410C>G (p.Leu2470=)
c.7356C>G (p.Leu2452=)
c.7260C>G (p.Leu2420=)
c.7230C>G (p.Leu2410=)
c.7155C>G (p.Leu2385=)
c.7053C>G (p.Leu2351=)
c.6684C>G (p.Leu2228=)
dbSNP
5g.112843127C>TCA16604674APCc.7587C>T (p.Leu2529=)
c.*7539C>T (n.*7539C>T)
c.7479C>T (p.Leu2493=)
c.7533C>T (p.Leu2511=)
c.231-13522C>T
c.7563C>T (p.Leu2521=)
c.7458C>T (p.Leu2486=)
c.7449C>T (p.Leu2483=)
c.7410C>T (p.Leu2470=)
c.7356C>T (p.Leu2452=)
c.7260C>T (p.Leu2420=)
c.7230C>T (p.Leu2410=)
c.7155C>T (p.Leu2385=)
c.7053C>T (p.Leu2351=)
c.6684C>T (p.Leu2228=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843128A>CCA16037706APCc.7588A>C (p.Ser2530Arg)
c.*7540A>C (n.*7540A>C)
c.7480A>C (p.Ser2494Arg)
c.7534A>C (p.Ser2512Arg)
c.231-13521A>C
c.7564A>C (p.Ser2522Arg)
c.7459A>C (p.Ser2487Arg)
c.7450A>C (p.Ser2484Arg)
c.7411A>C (p.Ser2471Arg)
c.7357A>C (p.Ser2453Arg)
c.7261A>C (p.Ser2421Arg)
c.7231A>C (p.Ser2411Arg)
c.7156A>C (p.Ser2386Arg)
c.7054A>C (p.Ser2352Arg)
c.6685A>C (p.Ser2229Arg)
ClinVar
5g.112843128A>GCA16037707APCc.7588A>G (p.Ser2530Gly)
c.*7540A>G (n.*7540A>G)
c.7480A>G (p.Ser2494Gly)
c.7534A>G (p.Ser2512Gly)
c.231-13521A>G
c.7564A>G (p.Ser2522Gly)
c.7459A>G (p.Ser2487Gly)
c.7450A>G (p.Ser2484Gly)
c.7411A>G (p.Ser2471Gly)
c.7357A>G (p.Ser2453Gly)
c.7261A>G (p.Ser2421Gly)
c.7231A>G (p.Ser2411Gly)
c.7156A>G (p.Ser2386Gly)
c.7054A>G (p.Ser2352Gly)
c.6685A>G (p.Ser2229Gly)
ClinVar dbSNP
5g.112843128A>TCA16037708APCc.7588A>T (p.Ser2530Cys)
c.*7540A>T (n.*7540A>T)
c.7480A>T (p.Ser2494Cys)
c.7534A>T (p.Ser2512Cys)
c.231-13521A>T
c.7564A>T (p.Ser2522Cys)
c.7459A>T (p.Ser2487Cys)
c.7450A>T (p.Ser2484Cys)
c.7411A>T (p.Ser2471Cys)
c.7357A>T (p.Ser2453Cys)
c.7261A>T (p.Ser2421Cys)
c.7231A>T (p.Ser2411Cys)
c.7156A>T (p.Ser2386Cys)
c.7054A>T (p.Ser2352Cys)
c.6685A>T (p.Ser2229Cys)
ClinVar dbSNP
5g.112843129G>ACA16037709APCc.7589G>A (p.Ser2530Asn)
c.*7541G>A (n.*7541G>A)
c.7481G>A (p.Ser2494Asn)
c.7535G>A (p.Ser2512Asn)
c.231-13520G>A
c.7565G>A (p.Ser2522Asn)
c.7460G>A (p.Ser2487Asn)
c.7451G>A (p.Ser2484Asn)
c.7412G>A (p.Ser2471Asn)
c.7358G>A (p.Ser2453Asn)
c.7262G>A (p.Ser2421Asn)
c.7232G>A (p.Ser2411Asn)
c.7157G>A (p.Ser2386Asn)
c.7055G>A (p.Ser2352Asn)
c.6686G>A (p.Ser2229Asn)
dbSNP gnomAD v4
5g.112843129G>CCA16037710APCc.7589G>C (p.Ser2530Thr)
c.*7541G>C (n.*7541G>C)
c.7481G>C (p.Ser2494Thr)
c.7535G>C (p.Ser2512Thr)
c.231-13520G>C
c.7565G>C (p.Ser2522Thr)
c.7460G>C (p.Ser2487Thr)
c.7451G>C (p.Ser2484Thr)
c.7412G>C (p.Ser2471Thr)
c.7358G>C (p.Ser2453Thr)
c.7262G>C (p.Ser2421Thr)
c.7232G>C (p.Ser2411Thr)
c.7157G>C (p.Ser2386Thr)
c.7055G>C (p.Ser2352Thr)
c.6686G>C (p.Ser2229Thr)
ClinVar dbSNP gnomAD v4
5g.112843129G=CA1573471616APCc.7589G= (p.Ser2530=)
c.*7541G= (n.*7541G=)
c.7481G= (p.Ser2494=)
c.7535G= (p.Ser2512=)
c.231-13520G=
c.7565G= (p.Ser2522=)
c.7460G= (p.Ser2487=)
c.7451G= (p.Ser2484=)
c.7412G= (p.Ser2471=)
c.7358G= (p.Ser2453=)
c.7262G= (p.Ser2421=)
c.7232G= (p.Ser2411=)
c.7157G= (p.Ser2386=)
c.7055G= (p.Ser2352=)
c.6686G= (p.Ser2229=)
5g.112843129G>TCA16037711APCc.7589G>T (p.Ser2530Ile)
c.*7541G>T (n.*7541G>T)
c.7481G>T (p.Ser2494Ile)
c.7535G>T (p.Ser2512Ile)
c.231-13520G>T
c.7565G>T (p.Ser2522Ile)
c.7460G>T (p.Ser2487Ile)
c.7451G>T (p.Ser2484Ile)
c.7412G>T (p.Ser2471Ile)
c.7358G>T (p.Ser2453Ile)
c.7262G>T (p.Ser2421Ile)
c.7232G>T (p.Ser2411Ile)
c.7157G>T (p.Ser2386Ile)
c.7055G>T (p.Ser2352Ile)
c.6686G>T (p.Ser2229Ile)
ClinVar
5g.112843130T>ACA16037712APCc.7590T>A (p.Ser2530Arg)
c.*7542T>A (n.*7542T>A)
c.7482T>A (p.Ser2494Arg)
c.7536T>A (p.Ser2512Arg)
c.231-13519T>A
c.7566T>A (p.Ser2522Arg)
c.7461T>A (p.Ser2487Arg)
c.7452T>A (p.Ser2484Arg)
c.7413T>A (p.Ser2471Arg)
c.7359T>A (p.Ser2453Arg)
c.7263T>A (p.Ser2421Arg)
c.7233T>A (p.Ser2411Arg)
c.7158T>A (p.Ser2386Arg)
c.7056T>A (p.Ser2352Arg)
c.6687T>A (p.Ser2229Arg)
ClinVar
5g.112843130T>CCA013781APCc.7590T>C (p.Ser2530=)
c.*7542T>C (n.*7542T>C)
c.7482T>C (p.Ser2494=)
c.7536T>C (p.Ser2512=)
c.231-13519T>C
c.7566T>C (p.Ser2522=)
c.7461T>C (p.Ser2487=)
c.7452T>C (p.Ser2484=)
c.7413T>C (p.Ser2471=)
c.7359T>C (p.Ser2453=)
c.7263T>C (p.Ser2421=)
c.7233T>C (p.Ser2411=)
c.7158T>C (p.Ser2386=)
c.7056T>C (p.Ser2352=)
c.6687T>C (p.Ser2229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843130T>GCA16037713APCc.7590T>G (p.Ser2530Arg)
c.*7542T>G (n.*7542T>G)
c.7482T>G (p.Ser2494Arg)
c.7536T>G (p.Ser2512Arg)
c.231-13519T>G
c.7566T>G (p.Ser2522Arg)
c.7461T>G (p.Ser2487Arg)
c.7452T>G (p.Ser2484Arg)
c.7413T>G (p.Ser2471Arg)
c.7359T>G (p.Ser2453Arg)
c.7263T>G (p.Ser2421Arg)
c.7233T>G (p.Ser2411Arg)
c.7158T>G (p.Ser2386Arg)
c.7056T>G (p.Ser2352Arg)
c.6687T>G (p.Ser2229Arg)
ClinVar dbSNP gnomAD v4
5g.112843130T=CA1573471626APCc.7590T= (p.Ser2530=)
c.*7542T= (n.*7542T=)
c.7482T= (p.Ser2494=)
c.7536T= (p.Ser2512=)
c.231-13519T=
c.7566T= (p.Ser2522=)
c.7461T= (p.Ser2487=)
c.7452T= (p.Ser2484=)
c.7413T= (p.Ser2471=)
c.7359T= (p.Ser2453=)
c.7263T= (p.Ser2421=)
c.7233T= (p.Ser2411=)
c.7158T= (p.Ser2386=)
c.7056T= (p.Ser2352=)
c.6687T= (p.Ser2229=)
5g.112843131C>ACA16037714APCc.7591C>A (p.Pro2531Thr)
c.*7543C>A (n.*7543C>A)
c.7483C>A (p.Pro2495Thr)
c.7537C>A (p.Pro2513Thr)
c.231-13518C>A
c.7567C>A (p.Pro2523Thr)
c.7462C>A (p.Pro2488Thr)
c.7453C>A (p.Pro2485Thr)
c.7414C>A (p.Pro2472Thr)
c.7360C>A (p.Pro2454Thr)
c.7264C>A (p.Pro2422Thr)
c.7234C>A (p.Pro2412Thr)
c.7159C>A (p.Pro2387Thr)
c.7057C>A (p.Pro2353Thr)
c.6688C>A (p.Pro2230Thr)
dbSNP
5g.112843131C>GCA16037715APCc.7591C>G (p.Pro2531Ala)
c.*7543C>G (n.*7543C>G)
c.7483C>G (p.Pro2495Ala)
c.7537C>G (p.Pro2513Ala)
c.231-13518C>G
c.7567C>G (p.Pro2523Ala)
c.7462C>G (p.Pro2488Ala)
c.7453C>G (p.Pro2485Ala)
c.7414C>G (p.Pro2472Ala)
c.7360C>G (p.Pro2454Ala)
c.7264C>G (p.Pro2422Ala)
c.7234C>G (p.Pro2412Ala)
c.7159C>G (p.Pro2387Ala)
c.7057C>G (p.Pro2353Ala)
c.6688C>G (p.Pro2230Ala)
ClinVar dbSNP
5g.112843131C>TCA16037716APCc.7591C>T (p.Pro2531Ser)
c.*7543C>T (n.*7543C>T)
c.7483C>T (p.Pro2495Ser)
c.7537C>T (p.Pro2513Ser)
c.231-13518C>T
c.7567C>T (p.Pro2523Ser)
c.7462C>T (p.Pro2488Ser)
c.7453C>T (p.Pro2485Ser)
c.7414C>T (p.Pro2472Ser)
c.7360C>T (p.Pro2454Ser)
c.7264C>T (p.Pro2422Ser)
c.7234C>T (p.Pro2412Ser)
c.7159C>T (p.Pro2387Ser)
c.7057C>T (p.Pro2353Ser)
c.6688C>T (p.Pro2230Ser)
dbSNP gnomAD v4
5g.112843132C>ACA16037717APCc.7592C>A (p.Pro2531His)
c.*7544C>A (n.*7544C>A)
c.7484C>A (p.Pro2495His)
c.7538C>A (p.Pro2513His)
c.231-13517C>A
c.7568C>A (p.Pro2523His)
c.7463C>A (p.Pro2488His)
c.7454C>A (p.Pro2485His)
c.7415C>A (p.Pro2472His)
c.7361C>A (p.Pro2454His)
c.7265C>A (p.Pro2422His)
c.7235C>A (p.Pro2412His)
c.7160C>A (p.Pro2387His)
c.7058C>A (p.Pro2353His)
c.6689C>A (p.Pro2230His)
dbSNP
5g.112843132C=CA1573471637APCc.7592C= (p.Pro2531=)
c.*7544C= (n.*7544C=)
c.7484C= (p.Pro2495=)
c.7538C= (p.Pro2513=)
c.231-13517C=
c.7568C= (p.Pro2523=)
c.7463C= (p.Pro2488=)
c.7454C= (p.Pro2485=)
c.7415C= (p.Pro2472=)
c.7361C= (p.Pro2454=)
c.7265C= (p.Pro2422=)
c.7235C= (p.Pro2412=)
c.7160C= (p.Pro2387=)
c.7058C= (p.Pro2353=)
c.6689C= (p.Pro2230=)
5g.112843132C>GCA16037718APCc.7592C>G (p.Pro2531Arg)
c.*7544C>G (n.*7544C>G)
c.7484C>G (p.Pro2495Arg)
c.7538C>G (p.Pro2513Arg)
c.231-13517C>G
c.7568C>G (p.Pro2523Arg)
c.7463C>G (p.Pro2488Arg)
c.7454C>G (p.Pro2485Arg)
c.7415C>G (p.Pro2472Arg)
c.7361C>G (p.Pro2454Arg)
c.7265C>G (p.Pro2422Arg)
c.7235C>G (p.Pro2412Arg)
c.7160C>G (p.Pro2387Arg)
c.7058C>G (p.Pro2353Arg)
c.6689C>G (p.Pro2230Arg)
ClinVar dbSNP
5g.112843132C>TCA16037719APCc.7592C>T (p.Pro2531Leu)
c.*7544C>T (n.*7544C>T)
c.7484C>T (p.Pro2495Leu)
c.7538C>T (p.Pro2513Leu)
c.231-13517C>T
c.7568C>T (p.Pro2523Leu)
c.7463C>T (p.Pro2488Leu)
c.7454C>T (p.Pro2485Leu)
c.7415C>T (p.Pro2472Leu)
c.7361C>T (p.Pro2454Leu)
c.7265C>T (p.Pro2422Leu)
c.7235C>T (p.Pro2412Leu)
c.7160C>T (p.Pro2387Leu)
c.7058C>T (p.Pro2353Leu)
c.6689C>T (p.Pro2230Leu)
ClinVar dbSNP
5g.112843133C>ACA446210882APCc.7593C>A (p.Pro2531=)
c.*7545C>A (n.*7545C>A)
c.7485C>A (p.Pro2495=)
c.7539C>A (p.Pro2513=)
c.231-13516C>A
c.7569C>A (p.Pro2523=)
c.7464C>A (p.Pro2488=)
c.7455C>A (p.Pro2485=)
c.7416C>A (p.Pro2472=)
c.7362C>A (p.Pro2454=)
c.7266C>A (p.Pro2422=)
c.7236C>A (p.Pro2412=)
c.7161C>A (p.Pro2387=)
c.7059C>A (p.Pro2353=)
c.6690C>A (p.Pro2230=)
dbSNP
5g.112843133C>GCA446210883APCc.7593C>G (p.Pro2531=)
c.*7545C>G (n.*7545C>G)
c.7485C>G (p.Pro2495=)
c.7539C>G (p.Pro2513=)
c.231-13516C>G
c.7569C>G (p.Pro2523=)
c.7464C>G (p.Pro2488=)
c.7455C>G (p.Pro2485=)
c.7416C>G (p.Pro2472=)
c.7362C>G (p.Pro2454=)
c.7266C>G (p.Pro2422=)
c.7236C>G (p.Pro2412=)
c.7161C>G (p.Pro2387=)
c.7059C>G (p.Pro2353=)
c.6690C>G (p.Pro2230=)
dbSNP
5g.112843133C>TCA446210884APCc.7593C>T (p.Pro2531=)
c.*7545C>T (n.*7545C>T)
c.7485C>T (p.Pro2495=)
c.7539C>T (p.Pro2513=)
c.231-13516C>T
c.7569C>T (p.Pro2523=)
c.7464C>T (p.Pro2488=)
c.7455C>T (p.Pro2485=)
c.7416C>T (p.Pro2472=)
c.7362C>T (p.Pro2454=)
c.7266C>T (p.Pro2422=)
c.7236C>T (p.Pro2412=)
c.7161C>T (p.Pro2387=)
c.7059C>T (p.Pro2353=)
c.6690C>T (p.Pro2230=)
dbSNP
5g.112843134A=CA1573471674APCc.7594A= (p.Thr2532=)
c.*7546A= (n.*7546A=)
c.7486A= (p.Thr2496=)
c.7540A= (p.Thr2514=)
c.231-13515A=
c.7570A= (p.Thr2524=)
c.7465A= (p.Thr2489=)
c.7456A= (p.Thr2486=)
c.7417A= (p.Thr2473=)
c.7363A= (p.Thr2455=)
c.7267A= (p.Thr2423=)
c.7237A= (p.Thr2413=)
c.7162A= (p.Thr2388=)
c.7060A= (p.Thr2354=)
c.6691A= (p.Thr2231=)
5g.112843134A>CCA16037720APCc.7594A>C (p.Thr2532Pro)
c.*7546A>C (n.*7546A>C)
c.7486A>C (p.Thr2496Pro)
c.7540A>C (p.Thr2514Pro)
c.231-13515A>C
c.7570A>C (p.Thr2524Pro)
c.7465A>C (p.Thr2489Pro)
c.7456A>C (p.Thr2486Pro)
c.7417A>C (p.Thr2473Pro)
c.7363A>C (p.Thr2455Pro)
c.7267A>C (p.Thr2423Pro)
c.7237A>C (p.Thr2413Pro)
c.7162A>C (p.Thr2388Pro)
c.7060A>C (p.Thr2354Pro)
c.6691A>C (p.Thr2231Pro)
ClinVar dbSNP
5g.112843134A>GCA048361APCc.7594A>G (p.Thr2532Ala)
c.*7546A>G (n.*7546A>G)
c.7486A>G (p.Thr2496Ala)
c.7540A>G (p.Thr2514Ala)
c.231-13515A>G
c.7570A>G (p.Thr2524Ala)
c.7465A>G (p.Thr2489Ala)
c.7456A>G (p.Thr2486Ala)
c.7417A>G (p.Thr2473Ala)
c.7363A>G (p.Thr2455Ala)
c.7267A>G (p.Thr2423Ala)
c.7237A>G (p.Thr2413Ala)
c.7162A>G (p.Thr2388Ala)
c.7060A>G (p.Thr2354Ala)
c.6691A>G (p.Thr2231Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843134A>TCA16037721APCc.7594A>T (p.Thr2532Ser)
c.*7546A>T (n.*7546A>T)
c.7486A>T (p.Thr2496Ser)
c.7540A>T (p.Thr2514Ser)
c.231-13515A>T
c.7570A>T (p.Thr2524Ser)
c.7465A>T (p.Thr2489Ser)
c.7456A>T (p.Thr2486Ser)
c.7417A>T (p.Thr2473Ser)
c.7363A>T (p.Thr2455Ser)
c.7267A>T (p.Thr2423Ser)
c.7237A>T (p.Thr2413Ser)
c.7162A>T (p.Thr2388Ser)
c.7060A>T (p.Thr2354Ser)
c.6691A>T (p.Thr2231Ser)
ClinVar dbSNP
5g.112843135C>ACA16037722APCc.7595C>A (p.Thr2532Asn)
c.*7547C>A (n.*7547C>A)
c.7487C>A (p.Thr2496Asn)
c.7541C>A (p.Thr2514Asn)
c.231-13514C>A
c.7571C>A (p.Thr2524Asn)
c.7466C>A (p.Thr2489Asn)
c.7457C>A (p.Thr2486Asn)
c.7418C>A (p.Thr2473Asn)
c.7364C>A (p.Thr2455Asn)
c.7268C>A (p.Thr2423Asn)
c.7238C>A (p.Thr2413Asn)
c.7163C>A (p.Thr2388Asn)
c.7061C>A (p.Thr2354Asn)
c.6692C>A (p.Thr2231Asn)
ClinVar dbSNP
5g.112843135C=CA1573471691APCc.7595C= (p.Thr2532=)
c.*7547C= (n.*7547C=)
c.7487C= (p.Thr2496=)
c.7541C= (p.Thr2514=)
c.231-13514C=
c.7571C= (p.Thr2524=)
c.7466C= (p.Thr2489=)
c.7457C= (p.Thr2486=)
c.7418C= (p.Thr2473=)
c.7364C= (p.Thr2455=)
c.7268C= (p.Thr2423=)
c.7238C= (p.Thr2413=)
c.7163C= (p.Thr2388=)
c.7061C= (p.Thr2354=)
c.6692C= (p.Thr2231=)
5g.112843135C>GCA048379APCc.7595C>G (p.Thr2532Ser)
c.*7547C>G (n.*7547C>G)
c.7487C>G (p.Thr2496Ser)
c.7541C>G (p.Thr2514Ser)
c.231-13514C>G
c.7571C>G (p.Thr2524Ser)
c.7466C>G (p.Thr2489Ser)
c.7457C>G (p.Thr2486Ser)
c.7418C>G (p.Thr2473Ser)
c.7364C>G (p.Thr2455Ser)
c.7268C>G (p.Thr2423Ser)
c.7238C>G (p.Thr2413Ser)
c.7163C>G (p.Thr2388Ser)
c.7061C>G (p.Thr2354Ser)
c.6692C>G (p.Thr2231Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843135C>TCA16037723APCc.7595C>T (p.Thr2532Ile)
c.*7547C>T (n.*7547C>T)
c.7487C>T (p.Thr2496Ile)
c.7541C>T (p.Thr2514Ile)
c.231-13514C>T
c.7571C>T (p.Thr2524Ile)
c.7466C>T (p.Thr2489Ile)
c.7457C>T (p.Thr2486Ile)
c.7418C>T (p.Thr2473Ile)
c.7364C>T (p.Thr2455Ile)
c.7268C>T (p.Thr2423Ile)
c.7238C>T (p.Thr2413Ile)
c.7163C>T (p.Thr2388Ile)
c.7061C>T (p.Thr2354Ile)
c.6692C>T (p.Thr2231Ile)
dbSNP gnomAD v4
5g.112843136T>ACA446210885APCc.7596T>A (p.Thr2532=)
c.*7548T>A (n.*7548T>A)
c.7488T>A (p.Thr2496=)
c.7542T>A (p.Thr2514=)
c.231-13513T>A
c.7572T>A (p.Thr2524=)
c.7467T>A (p.Thr2489=)
c.7458T>A (p.Thr2486=)
c.7419T>A (p.Thr2473=)
c.7365T>A (p.Thr2455=)
c.7269T>A (p.Thr2423=)
c.7239T>A (p.Thr2413=)
c.7164T>A (p.Thr2388=)
c.7062T>A (p.Thr2354=)
c.6693T>A (p.Thr2231=)
ClinVar dbSNP
5g.112843136T>CCA446210886APCc.7596T>C (p.Thr2532=)
c.*7548T>C (n.*7548T>C)
c.7488T>C (p.Thr2496=)
c.7542T>C (p.Thr2514=)
c.231-13513T>C
c.7572T>C (p.Thr2524=)
c.7467T>C (p.Thr2489=)
c.7458T>C (p.Thr2486=)
c.7419T>C (p.Thr2473=)
c.7365T>C (p.Thr2455=)
c.7269T>C (p.Thr2423=)
c.7239T>C (p.Thr2413=)
c.7164T>C (p.Thr2388=)
c.7062T>C (p.Thr2354=)
c.6693T>C (p.Thr2231=)
dbSNP gnomAD v4
5g.112843136T>GCA446210887APCc.7596T>G (p.Thr2532=)
c.*7548T>G (n.*7548T>G)
c.7488T>G (p.Thr2496=)
c.7542T>G (p.Thr2514=)
c.231-13513T>G
c.7572T>G (p.Thr2524=)
c.7467T>G (p.Thr2489=)
c.7458T>G (p.Thr2486=)
c.7419T>G (p.Thr2473=)
c.7365T>G (p.Thr2455=)
c.7269T>G (p.Thr2423=)
c.7239T>G (p.Thr2413=)
c.7164T>G (p.Thr2388=)
c.7062T>G (p.Thr2354=)
c.6693T>G (p.Thr2231=)
5g.112843137A=CA1573471709APCc.7597A= (p.Ile2533=)
c.*7549A= (n.*7549A=)
c.7489A= (p.Ile2497=)
c.7543A= (p.Ile2515=)
c.231-13512A=
c.7573A= (p.Ile2525=)
c.7468A= (p.Ile2490=)
c.7459A= (p.Ile2487=)
c.7420A= (p.Ile2474=)
c.7366A= (p.Ile2456=)
c.7270A= (p.Ile2424=)
c.7240A= (p.Ile2414=)
c.7165A= (p.Ile2389=)
c.7063A= (p.Ile2355=)
c.6694A= (p.Ile2232=)
5g.112843137A>CCA16037724APCc.7597A>C (p.Ile2533Leu)
c.*7549A>C (n.*7549A>C)
c.7489A>C (p.Ile2497Leu)
c.7543A>C (p.Ile2515Leu)
c.231-13512A>C
c.7573A>C (p.Ile2525Leu)
c.7468A>C (p.Ile2490Leu)
c.7459A>C (p.Ile2487Leu)
c.7420A>C (p.Ile2474Leu)
c.7366A>C (p.Ile2456Leu)
c.7270A>C (p.Ile2424Leu)
c.7240A>C (p.Ile2414Leu)
c.7165A>C (p.Ile2389Leu)
c.7063A>C (p.Ile2355Leu)
c.6694A>C (p.Ile2232Leu)
ClinVar dbSNP
5g.112843137A>GCA013792APCc.7597A>G (p.Ile2533Val)
c.*7549A>G (n.*7549A>G)
c.7489A>G (p.Ile2497Val)
c.7543A>G (p.Ile2515Val)
c.231-13512A>G
c.7573A>G (p.Ile2525Val)
c.7468A>G (p.Ile2490Val)
c.7459A>G (p.Ile2487Val)
c.7420A>G (p.Ile2474Val)
c.7366A>G (p.Ile2456Val)
c.7270A>G (p.Ile2424Val)
c.7240A>G (p.Ile2414Val)
c.7165A>G (p.Ile2389Val)
c.7063A>G (p.Ile2355Val)
c.6694A>G (p.Ile2232Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843137A>TCA16037725APCc.7597A>T (p.Ile2533Leu)
c.*7549A>T (n.*7549A>T)
c.7489A>T (p.Ile2497Leu)
c.7543A>T (p.Ile2515Leu)
c.231-13512A>T
c.7573A>T (p.Ile2525Leu)
c.7468A>T (p.Ile2490Leu)
c.7459A>T (p.Ile2487Leu)
c.7420A>T (p.Ile2474Leu)
c.7366A>T (p.Ile2456Leu)
c.7270A>T (p.Ile2424Leu)
c.7240A>T (p.Ile2414Leu)
c.7165A>T (p.Ile2389Leu)
c.7063A>T (p.Ile2355Leu)
c.6694A>T (p.Ile2232Leu)
dbSNP
5g.112843138T>ACA16037726APCc.7598T>A (p.Ile2533Lys)
c.*7550T>A (n.*7550T>A)
c.7490T>A (p.Ile2497Lys)
c.7544T>A (p.Ile2515Lys)
c.231-13511T>A
c.7574T>A (p.Ile2525Lys)
c.7469T>A (p.Ile2490Lys)
c.7460T>A (p.Ile2487Lys)
c.7421T>A (p.Ile2474Lys)
c.7367T>A (p.Ile2456Lys)
c.7271T>A (p.Ile2424Lys)
c.7241T>A (p.Ile2414Lys)
c.7166T>A (p.Ile2389Lys)
c.7064T>A (p.Ile2355Lys)
c.6695T>A (p.Ile2232Lys)
dbSNP
5g.112843138T>CCA16037727APCc.7598T>C (p.Ile2533Thr)
c.*7550T>C (n.*7550T>C)
c.7490T>C (p.Ile2497Thr)
c.7544T>C (p.Ile2515Thr)
c.231-13511T>C
c.7574T>C (p.Ile2525Thr)
c.7469T>C (p.Ile2490Thr)
c.7460T>C (p.Ile2487Thr)
c.7421T>C (p.Ile2474Thr)
c.7367T>C (p.Ile2456Thr)
c.7271T>C (p.Ile2424Thr)
c.7241T>C (p.Ile2414Thr)
c.7166T>C (p.Ile2389Thr)
c.7064T>C (p.Ile2355Thr)
c.6695T>C (p.Ile2232Thr)
dbSNP
5g.112843138T>GCA16037728APCc.7598T>G (p.Ile2533Arg)
c.*7550T>G (n.*7550T>G)
c.7490T>G (p.Ile2497Arg)
c.7544T>G (p.Ile2515Arg)
c.231-13511T>G
c.7574T>G (p.Ile2525Arg)
c.7469T>G (p.Ile2490Arg)
c.7460T>G (p.Ile2487Arg)
c.7421T>G (p.Ile2474Arg)
c.7367T>G (p.Ile2456Arg)
c.7271T>G (p.Ile2424Arg)
c.7241T>G (p.Ile2414Arg)
c.7166T>G (p.Ile2389Arg)
c.7064T>G (p.Ile2355Arg)
c.6695T>G (p.Ile2232Arg)
ClinVar dbSNP
5g.112843138T=CA1573471720APCc.7598T= (p.Ile2533=)
c.*7550T= (n.*7550T=)
c.7490T= (p.Ile2497=)
c.7544T= (p.Ile2515=)
c.231-13511T=
c.7574T= (p.Ile2525=)
c.7469T= (p.Ile2490=)
c.7460T= (p.Ile2487=)
c.7421T= (p.Ile2474=)
c.7367T= (p.Ile2456=)
c.7271T= (p.Ile2424=)
c.7241T= (p.Ile2414=)
c.7166T= (p.Ile2389=)
c.7064T= (p.Ile2355=)
c.6695T= (p.Ile2232=)
5g.112843139A=CA1573471732APCc.7599A= (p.Ile2533=)
c.*7551A= (n.*7551A=)
c.7491A= (p.Ile2497=)
c.7545A= (p.Ile2515=)
c.231-13510A=
c.7575A= (p.Ile2525=)
c.7470A= (p.Ile2490=)
c.7461A= (p.Ile2487=)
c.7422A= (p.Ile2474=)
c.7368A= (p.Ile2456=)
c.7272A= (p.Ile2424=)
c.7242A= (p.Ile2414=)
c.7167A= (p.Ile2389=)
c.7065A= (p.Ile2355=)
c.6696A= (p.Ile2232=)
5g.112843139A>CCA446210888APCc.7599A>C (p.Ile2533=)
c.*7551A>C (n.*7551A>C)
c.7491A>C (p.Ile2497=)
c.7545A>C (p.Ile2515=)
c.231-13510A>C
c.7575A>C (p.Ile2525=)
c.7470A>C (p.Ile2490=)
c.7461A>C (p.Ile2487=)
c.7422A>C (p.Ile2474=)
c.7368A>C (p.Ile2456=)
c.7272A>C (p.Ile2424=)
c.7242A>C (p.Ile2414=)
c.7167A>C (p.Ile2389=)
c.7065A>C (p.Ile2355=)
c.6696A>C (p.Ile2232=)
5g.112843139A>GCA16037729APCc.7599A>G (p.Ile2533Met)
c.*7551A>G (n.*7551A>G)
c.7491A>G (p.Ile2497Met)
c.7545A>G (p.Ile2515Met)
c.231-13510A>G
c.7575A>G (p.Ile2525Met)
c.7470A>G (p.Ile2490Met)
c.7461A>G (p.Ile2487Met)
c.7422A>G (p.Ile2474Met)
c.7368A>G (p.Ile2456Met)
c.7272A>G (p.Ile2424Met)
c.7242A>G (p.Ile2414Met)
c.7167A>G (p.Ile2389Met)
c.7065A>G (p.Ile2355Met)
c.6696A>G (p.Ile2232Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843139A>TCA446210889APCc.7599A>T (p.Ile2533=)
c.*7551A>T (n.*7551A>T)
c.7491A>T (p.Ile2497=)
c.7545A>T (p.Ile2515=)
c.231-13510A>T
c.7575A>T (p.Ile2525=)
c.7470A>T (p.Ile2490=)
c.7461A>T (p.Ile2487=)
c.7422A>T (p.Ile2474=)
c.7368A>T (p.Ile2456=)
c.7272A>T (p.Ile2424=)
c.7242A>T (p.Ile2414=)
c.7167A>T (p.Ile2389=)
c.7065A>T (p.Ile2355=)
c.6696A>T (p.Ile2232=)
dbSNP
5g.112843140G>ACA16037730APCc.7600G>A (p.Glu2534Lys)
c.*7552G>A (n.*7552G>A)
c.7492G>A (p.Glu2498Lys)
c.7546G>A (p.Glu2516Lys)
c.231-13509G>A
c.7576G>A (p.Glu2526Lys)
c.7471G>A (p.Glu2491Lys)
c.7462G>A (p.Glu2488Lys)
c.7423G>A (p.Glu2475Lys)
c.7369G>A (p.Glu2457Lys)
c.7273G>A (p.Glu2425Lys)
c.7243G>A (p.Glu2415Lys)
c.7168G>A (p.Glu2390Lys)
c.7066G>A (p.Glu2356Lys)
c.6697G>A (p.Glu2233Lys)
dbSNP
5g.112843140G>CCA16037731APCc.7600G>C (p.Glu2534Gln)
c.*7552G>C (n.*7552G>C)
c.7492G>C (p.Glu2498Gln)
c.7546G>C (p.Glu2516Gln)
c.231-13509G>C
c.7576G>C (p.Glu2526Gln)
c.7471G>C (p.Glu2491Gln)
c.7462G>C (p.Glu2488Gln)
c.7423G>C (p.Glu2475Gln)
c.7369G>C (p.Glu2457Gln)
c.7273G>C (p.Glu2425Gln)
c.7243G>C (p.Glu2415Gln)
c.7168G>C (p.Glu2390Gln)
c.7066G>C (p.Glu2356Gln)
c.6697G>C (p.Glu2233Gln)
dbSNP
5g.112843140G>TCA16037732APCc.7600G>T (p.Glu2534Ter)
c.*7552G>T (n.*7552G>T)
c.7492G>T (p.Glu2498Ter)
c.7546G>T (p.Glu2516Ter)
c.231-13509G>T
c.7576G>T (p.Glu2526Ter)
c.7471G>T (p.Glu2491Ter)
c.7462G>T (p.Glu2488Ter)
c.7423G>T (p.Glu2475Ter)
c.7369G>T (p.Glu2457Ter)
c.7273G>T (p.Glu2425Ter)
c.7243G>T (p.Glu2415Ter)
c.7168G>T (p.Glu2390Ter)
c.7066G>T (p.Glu2356Ter)
c.6697G>T (p.Glu2233Ter)
dbSNP
5g.112843141A=CA1573471738APCc.7601A= (p.Glu2534=)
c.*7553A= (n.*7553A=)
c.7493A= (p.Glu2498=)
c.7547A= (p.Glu2516=)
c.231-13508A=
c.7577A= (p.Glu2526=)
c.7472A= (p.Glu2491=)
c.7463A= (p.Glu2488=)
c.7424A= (p.Glu2475=)
c.7370A= (p.Glu2457=)
c.7274A= (p.Glu2425=)
c.7244A= (p.Glu2415=)
c.7169A= (p.Glu2390=)
c.7067A= (p.Glu2356=)
c.6698A= (p.Glu2233=)
5g.112843141A>CCA16037733APCc.7601A>C (p.Glu2534Ala)
c.*7553A>C (n.*7553A>C)
c.7493A>C (p.Glu2498Ala)
c.7547A>C (p.Glu2516Ala)
c.231-13508A>C
c.7577A>C (p.Glu2526Ala)
c.7472A>C (p.Glu2491Ala)
c.7463A>C (p.Glu2488Ala)
c.7424A>C (p.Glu2475Ala)
c.7370A>C (p.Glu2457Ala)
c.7274A>C (p.Glu2425Ala)
c.7244A>C (p.Glu2415Ala)
c.7169A>C (p.Glu2390Ala)
c.7067A>C (p.Glu2356Ala)
c.6698A>C (p.Glu2233Ala)
5g.112843141A>GCA16037734APCc.7601A>G (p.Glu2534Gly)
c.*7553A>G (n.*7553A>G)
c.7493A>G (p.Glu2498Gly)
c.7547A>G (p.Glu2516Gly)
c.231-13508A>G
c.7577A>G (p.Glu2526Gly)
c.7472A>G (p.Glu2491Gly)
c.7463A>G (p.Glu2488Gly)
c.7424A>G (p.Glu2475Gly)
c.7370A>G (p.Glu2457Gly)
c.7274A>G (p.Glu2425Gly)
c.7244A>G (p.Glu2415Gly)
c.7169A>G (p.Glu2390Gly)
c.7067A>G (p.Glu2356Gly)
c.6698A>G (p.Glu2233Gly)
ClinVar dbSNP COSMIC
5g.112843141A>TCA16037735APCc.7601A>T (p.Glu2534Val)
c.*7553A>T (n.*7553A>T)
c.7493A>T (p.Glu2498Val)
c.7547A>T (p.Glu2516Val)
c.231-13508A>T
c.7577A>T (p.Glu2526Val)
c.7472A>T (p.Glu2491Val)
c.7463A>T (p.Glu2488Val)
c.7424A>T (p.Glu2475Val)
c.7370A>T (p.Glu2457Val)
c.7274A>T (p.Glu2425Val)
c.7244A>T (p.Glu2415Val)
c.7169A>T (p.Glu2390Val)
c.7067A>T (p.Glu2356Val)
c.6698A>T (p.Glu2233Val)
dbSNP
5g.112843142G>ACA446210890APCc.7602G>A (p.Glu2534=)
c.*7554G>A (n.*7554G>A)
c.7494G>A (p.Glu2498=)
c.7548G>A (p.Glu2516=)
c.231-13507G>A
c.7578G>A (p.Glu2526=)
c.7473G>A (p.Glu2491=)
c.7464G>A (p.Glu2488=)
c.7425G>A (p.Glu2475=)
c.7371G>A (p.Glu2457=)
c.7275G>A (p.Glu2425=)
c.7245G>A (p.Glu2415=)
c.7170G>A (p.Glu2390=)
c.7068G>A (p.Glu2356=)
c.6699G>A (p.Glu2233=)
ClinVar dbSNP
5g.112843142G>CCA16037736APCc.7602G>C (p.Glu2534Asp)
c.*7554G>C (n.*7554G>C)
c.7494G>C (p.Glu2498Asp)
c.7548G>C (p.Glu2516Asp)
c.231-13507G>C
c.7578G>C (p.Glu2526Asp)
c.7473G>C (p.Glu2491Asp)
c.7464G>C (p.Glu2488Asp)
c.7425G>C (p.Glu2475Asp)
c.7371G>C (p.Glu2457Asp)
c.7275G>C (p.Glu2425Asp)
c.7245G>C (p.Glu2415Asp)
c.7170G>C (p.Glu2390Asp)
c.7068G>C (p.Glu2356Asp)
c.6699G>C (p.Glu2233Asp)
dbSNP
5g.112843142G=CA1573471752APCc.7602G= (p.Glu2534=)
c.*7554G= (n.*7554G=)
c.7494G= (p.Glu2498=)
c.7548G= (p.Glu2516=)
c.231-13507G=
c.7578G= (p.Glu2526=)
c.7473G= (p.Glu2491=)
c.7464G= (p.Glu2488=)
c.7425G= (p.Glu2475=)
c.7371G= (p.Glu2457=)
c.7275G= (p.Glu2425=)
c.7245G= (p.Glu2415=)
c.7170G= (p.Glu2390=)
c.7068G= (p.Glu2356=)
c.6699G= (p.Glu2233=)
5g.112843142G>TCA16037737APCc.7602G>T (p.Glu2534Asp)
c.*7554G>T (n.*7554G>T)
c.7494G>T (p.Glu2498Asp)
c.7548G>T (p.Glu2516Asp)
c.231-13507G>T
c.7578G>T (p.Glu2526Asp)
c.7473G>T (p.Glu2491Asp)
c.7464G>T (p.Glu2488Asp)
c.7425G>T (p.Glu2475Asp)
c.7371G>T (p.Glu2457Asp)
c.7275G>T (p.Glu2425Asp)
c.7245G>T (p.Glu2415Asp)
c.7170G>T (p.Glu2390Asp)
c.7068G>T (p.Glu2356Asp)
c.6699G>T (p.Glu2233Asp)
dbSNP
5g.112843143T>ACA16037738APCc.7603T>A (p.Tyr2535Asn)
c.*7555T>A (n.*7555T>A)
c.7495T>A (p.Tyr2499Asn)
c.7549T>A (p.Tyr2517Asn)
c.231-13506T>A
c.7579T>A (p.Tyr2527Asn)
c.7474T>A (p.Tyr2492Asn)
c.7465T>A (p.Tyr2489Asn)
c.7426T>A (p.Tyr2476Asn)
c.7372T>A (p.Tyr2458Asn)
c.7276T>A (p.Tyr2426Asn)
c.7246T>A (p.Tyr2416Asn)
c.7171T>A (p.Tyr2391Asn)
c.7069T>A (p.Tyr2357Asn)
c.6700T>A (p.Tyr2234Asn)
dbSNP
5g.112843143T>CCA16037739APCc.7603T>C (p.Tyr2535His)
c.*7555T>C (n.*7555T>C)
c.7495T>C (p.Tyr2499His)
c.7549T>C (p.Tyr2517His)
c.231-13506T>C
c.7579T>C (p.Tyr2527His)
c.7474T>C (p.Tyr2492His)
c.7465T>C (p.Tyr2489His)
c.7426T>C (p.Tyr2476His)
c.7372T>C (p.Tyr2458His)
c.7276T>C (p.Tyr2426His)
c.7246T>C (p.Tyr2416His)
c.7171T>C (p.Tyr2391His)
c.7069T>C (p.Tyr2357His)
c.6700T>C (p.Tyr2234His)
dbSNP
5g.112843143T>GCA16037740APCc.7603T>G (p.Tyr2535Asp)
c.*7555T>G (n.*7555T>G)
c.7495T>G (p.Tyr2499Asp)
c.7549T>G (p.Tyr2517Asp)
c.231-13506T>G
c.7579T>G (p.Tyr2527Asp)
c.7474T>G (p.Tyr2492Asp)
c.7465T>G (p.Tyr2489Asp)
c.7426T>G (p.Tyr2476Asp)
c.7372T>G (p.Tyr2458Asp)
c.7276T>G (p.Tyr2426Asp)
c.7246T>G (p.Tyr2416Asp)
c.7171T>G (p.Tyr2391Asp)
c.7069T>G (p.Tyr2357Asp)
c.6700T>G (p.Tyr2234Asp)
dbSNP
5g.112843144A=CA1573471762APCc.7604A= (p.Tyr2535=)
c.*7556A= (n.*7556A=)
c.7496A= (p.Tyr2499=)
c.7550A= (p.Tyr2517=)
c.231-13505A=
c.7580A= (p.Tyr2527=)
c.7475A= (p.Tyr2492=)
c.7466A= (p.Tyr2489=)
c.7427A= (p.Tyr2476=)
c.7373A= (p.Tyr2458=)
c.7277A= (p.Tyr2426=)
c.7247A= (p.Tyr2416=)
c.7172A= (p.Tyr2391=)
c.7070A= (p.Tyr2357=)
c.6701A= (p.Tyr2234=)
5g.112843144A>CCA16037741APCc.7604A>C (p.Tyr2535Ser)
c.*7556A>C (n.*7556A>C)
c.7496A>C (p.Tyr2499Ser)
c.7550A>C (p.Tyr2517Ser)
c.231-13505A>C
c.7580A>C (p.Tyr2527Ser)
c.7475A>C (p.Tyr2492Ser)
c.7466A>C (p.Tyr2489Ser)
c.7427A>C (p.Tyr2476Ser)
c.7373A>C (p.Tyr2458Ser)
c.7277A>C (p.Tyr2426Ser)
c.7247A>C (p.Tyr2416Ser)
c.7172A>C (p.Tyr2391Ser)
c.7070A>C (p.Tyr2357Ser)
c.6701A>C (p.Tyr2234Ser)
5g.112843144A>GCA013809APCc.7604A>G (p.Tyr2535Cys)
c.*7556A>G (n.*7556A>G)
c.7496A>G (p.Tyr2499Cys)
c.7550A>G (p.Tyr2517Cys)
c.231-13505A>G
c.7580A>G (p.Tyr2527Cys)
c.7475A>G (p.Tyr2492Cys)
c.7466A>G (p.Tyr2489Cys)
c.7427A>G (p.Tyr2476Cys)
c.7373A>G (p.Tyr2458Cys)
c.7277A>G (p.Tyr2426Cys)
c.7247A>G (p.Tyr2416Cys)
c.7172A>G (p.Tyr2391Cys)
c.7070A>G (p.Tyr2357Cys)
c.6701A>G (p.Tyr2234Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843144A>TCA16037742APCc.7604A>T (p.Tyr2535Phe)
c.*7556A>T (n.*7556A>T)
c.7496A>T (p.Tyr2499Phe)
c.7550A>T (p.Tyr2517Phe)
c.231-13505A>T
c.7580A>T (p.Tyr2527Phe)
c.7475A>T (p.Tyr2492Phe)
c.7466A>T (p.Tyr2489Phe)
c.7427A>T (p.Tyr2476Phe)
c.7373A>T (p.Tyr2458Phe)
c.7277A>T (p.Tyr2426Phe)
c.7247A>T (p.Tyr2416Phe)
c.7172A>T (p.Tyr2391Phe)
c.7070A>T (p.Tyr2357Phe)
c.6701A>T (p.Tyr2234Phe)
5g.112843146_112843148delCA2573138673APCc.7606_7608del (p.Asn2536del)
c.*7558_*7560del (n.*7558_*7560del)
c.7498_7500del (p.Asn2500del)
c.7552_7554del (p.Asn2518del)
c.231-13503_231-13501del
c.7582_7584del (p.Asn2528del)
c.7477_7479del (p.Asn2493del)
c.7468_7470del (p.Asn2490del)
c.7429_7431del (p.Asn2477del)
c.7375_7377del (p.Asn2459del)
c.7279_7281del (p.Asn2427del)
c.7249_7251del (p.Asn2417del)
c.7174_7176del (p.Asn2392del)
c.7072_7074del (p.Asn2358del)
c.6703_6705del (p.Asn2235del)
ClinVar dbSNP
5g.112843145T>ACA16037743APCc.7605T>A (p.Tyr2535Ter)
c.*7557T>A (n.*7557T>A)
c.7497T>A (p.Tyr2499Ter)
c.7551T>A (p.Tyr2517Ter)
c.231-13504T>A
c.7581T>A (p.Tyr2527Ter)
c.7476T>A (p.Tyr2492Ter)
c.7467T>A (p.Tyr2489Ter)
c.7428T>A (p.Tyr2476Ter)
c.7374T>A (p.Tyr2458Ter)
c.7278T>A (p.Tyr2426Ter)
c.7248T>A (p.Tyr2416Ter)
c.7173T>A (p.Tyr2391Ter)
c.7071T>A (p.Tyr2357Ter)
c.6702T>A (p.Tyr2234Ter)
5g.112843145T>CCA446210891APCc.7605T>C (p.Tyr2535=)
c.*7557T>C (n.*7557T>C)
c.7497T>C (p.Tyr2499=)
c.7551T>C (p.Tyr2517=)
c.231-13504T>C
c.7581T>C (p.Tyr2527=)
c.7476T>C (p.Tyr2492=)
c.7467T>C (p.Tyr2489=)
c.7428T>C (p.Tyr2476=)
c.7374T>C (p.Tyr2458=)
c.7278T>C (p.Tyr2426=)
c.7248T>C (p.Tyr2416=)
c.7173T>C (p.Tyr2391=)
c.7071T>C (p.Tyr2357=)
c.6702T>C (p.Tyr2234=)
ClinVar dbSNP gnomAD v4
5g.112843145T>GCA16037744APCc.7605T>G (p.Tyr2535Ter)
c.*7557T>G (n.*7557T>G)
c.7497T>G (p.Tyr2499Ter)
c.7551T>G (p.Tyr2517Ter)
c.231-13504T>G
c.7581T>G (p.Tyr2527Ter)
c.7476T>G (p.Tyr2492Ter)
c.7467T>G (p.Tyr2489Ter)
c.7428T>G (p.Tyr2476Ter)
c.7374T>G (p.Tyr2458Ter)
c.7278T>G (p.Tyr2426Ter)
c.7248T>G (p.Tyr2416Ter)
c.7173T>G (p.Tyr2391Ter)
c.7071T>G (p.Tyr2357Ter)
c.6702T>G (p.Tyr2234Ter)
5g.112843146A=CA1573471778APCc.7606A= (p.Asn2536=)
c.*7558A= (n.*7558A=)
c.7498A= (p.Asn2500=)
c.7552A= (p.Asn2518=)
c.231-13503A=
c.7582A= (p.Asn2528=)
c.7477A= (p.Asn2493=)
c.7468A= (p.Asn2490=)
c.7429A= (p.Asn2477=)
c.7375A= (p.Asn2459=)
c.7279A= (p.Asn2427=)
c.7249A= (p.Asn2417=)
c.7174A= (p.Asn2392=)
c.7072A= (p.Asn2358=)
c.6703A= (p.Asn2235=)
5g.112843146A>CCA16037745APCc.7606A>C (p.Asn2536His)
c.*7558A>C (n.*7558A>C)
c.7498A>C (p.Asn2500His)
c.7552A>C (p.Asn2518His)
c.231-13503A>C
c.7582A>C (p.Asn2528His)
c.7477A>C (p.Asn2493His)
c.7468A>C (p.Asn2490His)
c.7429A>C (p.Asn2477His)
c.7375A>C (p.Asn2459His)
c.7279A>C (p.Asn2427His)
c.7249A>C (p.Asn2417His)
c.7174A>C (p.Asn2392His)
c.7072A>C (p.Asn2358His)
c.6703A>C (p.Asn2235His)
5g.112843146A>GCA16037746APCc.7606A>G (p.Asn2536Asp)
c.*7558A>G (n.*7558A>G)
c.7498A>G (p.Asn2500Asp)
c.7552A>G (p.Asn2518Asp)
c.231-13503A>G
c.7582A>G (p.Asn2528Asp)
c.7477A>G (p.Asn2493Asp)
c.7468A>G (p.Asn2490Asp)
c.7429A>G (p.Asn2477Asp)
c.7375A>G (p.Asn2459Asp)
c.7279A>G (p.Asn2427Asp)
c.7249A>G (p.Asn2417Asp)
c.7174A>G (p.Asn2392Asp)
c.7072A>G (p.Asn2358Asp)
c.6703A>G (p.Asn2235Asp)
ClinVar dbSNP
5g.112843146A>TCA16037747APCc.7606A>T (p.Asn2536Tyr)
c.*7558A>T (n.*7558A>T)
c.7498A>T (p.Asn2500Tyr)
c.7552A>T (p.Asn2518Tyr)
c.231-13503A>T
c.7582A>T (p.Asn2528Tyr)
c.7477A>T (p.Asn2493Tyr)
c.7468A>T (p.Asn2490Tyr)
c.7429A>T (p.Asn2477Tyr)
c.7375A>T (p.Asn2459Tyr)
c.7279A>T (p.Asn2427Tyr)
c.7249A>T (p.Asn2417Tyr)
c.7174A>T (p.Asn2392Tyr)
c.7072A>T (p.Asn2358Tyr)
c.6703A>T (p.Asn2235Tyr)
dbSNP
5g.112843147A=CA1573471790APCc.7607A= (p.Asn2536=)
c.*7559A= (n.*7559A=)
c.7499A= (p.Asn2500=)
c.7553A= (p.Asn2518=)
c.231-13502A=
c.7583A= (p.Asn2528=)
c.7478A= (p.Asn2493=)
c.7469A= (p.Asn2490=)
c.7430A= (p.Asn2477=)
c.7376A= (p.Asn2459=)
c.7280A= (p.Asn2427=)
c.7250A= (p.Asn2417=)
c.7175A= (p.Asn2392=)
c.7073A= (p.Asn2358=)
c.6704A= (p.Asn2235=)
5g.112843147A>CCA16037748APCc.7607A>C (p.Asn2536Thr)
c.*7559A>C (n.*7559A>C)
c.7499A>C (p.Asn2500Thr)
c.7553A>C (p.Asn2518Thr)
c.231-13502A>C
c.7583A>C (p.Asn2528Thr)
c.7478A>C (p.Asn2493Thr)
c.7469A>C (p.Asn2490Thr)
c.7430A>C (p.Asn2477Thr)
c.7376A>C (p.Asn2459Thr)
c.7280A>C (p.Asn2427Thr)
c.7250A>C (p.Asn2417Thr)
c.7175A>C (p.Asn2392Thr)
c.7073A>C (p.Asn2358Thr)
c.6704A>C (p.Asn2235Thr)
dbSNP
5g.112843147A>GCA048409APCc.7607A>G (p.Asn2536Ser)
c.*7559A>G (n.*7559A>G)
c.7499A>G (p.Asn2500Ser)
c.7553A>G (p.Asn2518Ser)
c.231-13502A>G
c.7583A>G (p.Asn2528Ser)
c.7478A>G (p.Asn2493Ser)
c.7469A>G (p.Asn2490Ser)
c.7430A>G (p.Asn2477Ser)
c.7376A>G (p.Asn2459Ser)
c.7280A>G (p.Asn2427Ser)
c.7250A>G (p.Asn2417Ser)
c.7175A>G (p.Asn2392Ser)
c.7073A>G (p.Asn2358Ser)
c.6704A>G (p.Asn2235Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843147A>TCA16037749APCc.7607A>T (p.Asn2536Ile)
c.*7559A>T (n.*7559A>T)
c.7499A>T (p.Asn2500Ile)
c.7553A>T (p.Asn2518Ile)
c.231-13502A>T
c.7583A>T (p.Asn2528Ile)
c.7478A>T (p.Asn2493Ile)
c.7469A>T (p.Asn2490Ile)
c.7430A>T (p.Asn2477Ile)
c.7376A>T (p.Asn2459Ile)
c.7280A>T (p.Asn2427Ile)
c.7250A>T (p.Asn2417Ile)
c.7175A>T (p.Asn2392Ile)
c.7073A>T (p.Asn2358Ile)
c.6704A>T (p.Asn2235Ile)
dbSNP
5g.112843148T>ACA16037750APCc.7608T>A (p.Asn2536Lys)
c.*7560T>A (n.*7560T>A)
c.7500T>A (p.Asn2500Lys)
c.7554T>A (p.Asn2518Lys)
c.231-13501T>A
c.7584T>A (p.Asn2528Lys)
c.7479T>A (p.Asn2493Lys)
c.7470T>A (p.Asn2490Lys)
c.7431T>A (p.Asn2477Lys)
c.7377T>A (p.Asn2459Lys)
c.7281T>A (p.Asn2427Lys)
c.7251T>A (p.Asn2417Lys)
c.7176T>A (p.Asn2392Lys)
c.7074T>A (p.Asn2358Lys)
c.6705T>A (p.Asn2235Lys)
dbSNP
5g.112843148T>CCA446210892APCc.7608T>C (p.Asn2536=)
c.*7560T>C (n.*7560T>C)
c.7500T>C (p.Asn2500=)
c.7554T>C (p.Asn2518=)
c.231-13501T>C
c.7584T>C (p.Asn2528=)
c.7479T>C (p.Asn2493=)
c.7470T>C (p.Asn2490=)
c.7431T>C (p.Asn2477=)
c.7377T>C (p.Asn2459=)
c.7281T>C (p.Asn2427=)
c.7251T>C (p.Asn2417=)
c.7176T>C (p.Asn2392=)
c.7074T>C (p.Asn2358=)
c.6705T>C (p.Asn2235=)
dbSNP gnomAD v2 gnomAD v4
5g.112843148T>GCA16037751APCc.7608T>G (p.Asn2536Lys)
c.*7560T>G (n.*7560T>G)
c.7500T>G (p.Asn2500Lys)
c.7554T>G (p.Asn2518Lys)
c.231-13501T>G
c.7584T>G (p.Asn2528Lys)
c.7479T>G (p.Asn2493Lys)
c.7470T>G (p.Asn2490Lys)
c.7431T>G (p.Asn2477Lys)
c.7377T>G (p.Asn2459Lys)
c.7281T>G (p.Asn2427Lys)
c.7251T>G (p.Asn2417Lys)
c.7176T>G (p.Asn2392Lys)
c.7074T>G (p.Asn2358Lys)
c.6705T>G (p.Asn2235Lys)
ClinVar
5g.112843148T=CA1573471800APCc.7608T= (p.Asn2536=)
c.*7560T= (n.*7560T=)
c.7500T= (p.Asn2500=)
c.7554T= (p.Asn2518=)
c.231-13501T=
c.7584T= (p.Asn2528=)
c.7479T= (p.Asn2493=)
c.7470T= (p.Asn2490=)
c.7431T= (p.Asn2477=)
c.7377T= (p.Asn2459=)
c.7281T= (p.Asn2427=)
c.7251T= (p.Asn2417=)
c.7176T= (p.Asn2392=)
c.7074T= (p.Asn2358=)
c.6705T= (p.Asn2235=)
5g.112843149G>ACA16037752APCc.7609G>A (p.Asp2537Asn)
c.*7561G>A (n.*7561G>A)
c.7501G>A (p.Asp2501Asn)
c.7555G>A (p.Asp2519Asn)
c.231-13500G>A
c.7585G>A (p.Asp2529Asn)
c.7480G>A (p.Asp2494Asn)
c.7471G>A (p.Asp2491Asn)
c.7432G>A (p.Asp2478Asn)
c.7378G>A (p.Asp2460Asn)
c.7282G>A (p.Asp2428Asn)
c.7252G>A (p.Asp2418Asn)
c.7177G>A (p.Asp2393Asn)
c.7075G>A (p.Asp2359Asn)
c.6706G>A (p.Asp2236Asn)
dbSNP
5g.112843149G>CCA16037753APCc.7609G>C (p.Asp2537His)
c.*7561G>C (n.*7561G>C)
c.7501G>C (p.Asp2501His)
c.7555G>C (p.Asp2519His)
c.231-13500G>C
c.7585G>C (p.Asp2529His)
c.7480G>C (p.Asp2494His)
c.7471G>C (p.Asp2491His)
c.7432G>C (p.Asp2478His)
c.7378G>C (p.Asp2460His)
c.7282G>C (p.Asp2428His)
c.7252G>C (p.Asp2418His)
c.7177G>C (p.Asp2393His)
c.7075G>C (p.Asp2359His)
c.6706G>C (p.Asp2236His)
dbSNP
5g.112843149G>TCA16037754APCc.7609G>T (p.Asp2537Tyr)
c.*7561G>T (n.*7561G>T)
c.7501G>T (p.Asp2501Tyr)
c.7555G>T (p.Asp2519Tyr)
c.231-13500G>T
c.7585G>T (p.Asp2529Tyr)
c.7480G>T (p.Asp2494Tyr)
c.7471G>T (p.Asp2491Tyr)
c.7432G>T (p.Asp2478Tyr)
c.7378G>T (p.Asp2460Tyr)
c.7282G>T (p.Asp2428Tyr)
c.7252G>T (p.Asp2418Tyr)
c.7177G>T (p.Asp2393Tyr)
c.7075G>T (p.Asp2359Tyr)
c.6706G>T (p.Asp2236Tyr)
dbSNP COSMIC
5g.112843150A=CA1573471834APCc.7610A= (p.Asp2537=)
c.*7562A= (n.*7562A=)
c.7502A= (p.Asp2501=)
c.7556A= (p.Asp2519=)
c.231-13499A=
c.7586A= (p.Asp2529=)
c.7481A= (p.Asp2494=)
c.7472A= (p.Asp2491=)
c.7433A= (p.Asp2478=)
c.7379A= (p.Asp2460=)
c.7283A= (p.Asp2428=)
c.7253A= (p.Asp2418=)
c.7178A= (p.Asp2393=)
c.7076A= (p.Asp2359=)
c.6707A= (p.Asp2236=)
5g.112843150A>CCA16037755APCc.7610A>C (p.Asp2537Ala)
c.*7562A>C (n.*7562A>C)
c.7502A>C (p.Asp2501Ala)
c.7556A>C (p.Asp2519Ala)
c.231-13499A>C
c.7586A>C (p.Asp2529Ala)
c.7481A>C (p.Asp2494Ala)
c.7472A>C (p.Asp2491Ala)
c.7433A>C (p.Asp2478Ala)
c.7379A>C (p.Asp2460Ala)
c.7283A>C (p.Asp2428Ala)
c.7253A>C (p.Asp2418Ala)
c.7178A>C (p.Asp2393Ala)
c.7076A>C (p.Asp2359Ala)
c.6707A>C (p.Asp2236Ala)
5g.112843150A>GCA16037756APCc.7610A>G (p.Asp2537Gly)
c.*7562A>G (n.*7562A>G)
c.7502A>G (p.Asp2501Gly)
c.7556A>G (p.Asp2519Gly)
c.231-13499A>G
c.7586A>G (p.Asp2529Gly)
c.7481A>G (p.Asp2494Gly)
c.7472A>G (p.Asp2491Gly)
c.7433A>G (p.Asp2478Gly)
c.7379A>G (p.Asp2460Gly)
c.7283A>G (p.Asp2428Gly)
c.7253A>G (p.Asp2418Gly)
c.7178A>G (p.Asp2393Gly)
c.7076A>G (p.Asp2359Gly)
c.6707A>G (p.Asp2236Gly)
ClinVar dbSNP
5g.112843150A>TCA16037757APCc.7610A>T (p.Asp2537Val)
c.*7562A>T (n.*7562A>T)
c.7502A>T (p.Asp2501Val)
c.7556A>T (p.Asp2519Val)
c.231-13499A>T
c.7586A>T (p.Asp2529Val)
c.7481A>T (p.Asp2494Val)
c.7472A>T (p.Asp2491Val)
c.7433A>T (p.Asp2478Val)
c.7379A>T (p.Asp2460Val)
c.7283A>T (p.Asp2428Val)
c.7253A>T (p.Asp2418Val)
c.7178A>T (p.Asp2393Val)
c.7076A>T (p.Asp2359Val)
c.6707A>T (p.Asp2236Val)
dbSNP COSMIC
5g.112843151T>ACA16037758APCc.7611T>A (p.Asp2537Glu)
c.*7563T>A (n.*7563T>A)
c.7503T>A (p.Asp2501Glu)
c.7557T>A (p.Asp2519Glu)
c.231-13498T>A
c.7587T>A (p.Asp2529Glu)
c.7482T>A (p.Asp2494Glu)
c.7473T>A (p.Asp2491Glu)
c.7434T>A (p.Asp2478Glu)
c.7380T>A (p.Asp2460Glu)
c.7284T>A (p.Asp2428Glu)
c.7254T>A (p.Asp2418Glu)
c.7179T>A (p.Asp2393Glu)
c.7077T>A (p.Asp2359Glu)
c.6708T>A (p.Asp2236Glu)
5g.112843151T>CCA348079APCc.7611T>C (p.Asp2537=)
c.*7563T>C (n.*7563T>C)
c.7503T>C (p.Asp2501=)
c.7557T>C (p.Asp2519=)
c.231-13498T>C
c.7587T>C (p.Asp2529=)
c.7482T>C (p.Asp2494=)
c.7473T>C (p.Asp2491=)
c.7434T>C (p.Asp2478=)
c.7380T>C (p.Asp2460=)
c.7284T>C (p.Asp2428=)
c.7254T>C (p.Asp2418=)
c.7179T>C (p.Asp2393=)
c.7077T>C (p.Asp2359=)
c.6708T>C (p.Asp2236=)
ClinVar dbSNP gnomAD v4
5g.112843151T>GCA16037759APCc.7611T>G (p.Asp2537Glu)
c.*7563T>G (n.*7563T>G)
c.7503T>G (p.Asp2501Glu)
c.7557T>G (p.Asp2519Glu)
c.231-13498T>G
c.7587T>G (p.Asp2529Glu)
c.7482T>G (p.Asp2494Glu)
c.7473T>G (p.Asp2491Glu)
c.7434T>G (p.Asp2478Glu)
c.7380T>G (p.Asp2460Glu)
c.7284T>G (p.Asp2428Glu)
c.7254T>G (p.Asp2418Glu)
c.7179T>G (p.Asp2393Glu)
c.7077T>G (p.Asp2359Glu)
c.6708T>G (p.Asp2236Glu)
5g.112843151T=CA1573471841APCc.7611T= (p.Asp2537=)
c.*7563T= (n.*7563T=)
c.7503T= (p.Asp2501=)
c.7557T= (p.Asp2519=)
c.231-13498T=
c.7587T= (p.Asp2529=)
c.7482T= (p.Asp2494=)
c.7473T= (p.Asp2491=)
c.7434T= (p.Asp2478=)
c.7380T= (p.Asp2460=)
c.7284T= (p.Asp2428=)
c.7254T= (p.Asp2418=)
c.7179T= (p.Asp2393=)
c.7077T= (p.Asp2359=)
c.6708T= (p.Asp2236=)
5g.112843152G>ACA013827APCc.7612G>A (p.Gly2538Arg)
c.*7564G>A (n.*7564G>A)
c.7504G>A (p.Gly2502Arg)
c.7558G>A (p.Gly2520Arg)
c.231-13497G>A
c.7588G>A (p.Gly2530Arg)
c.7483G>A (p.Gly2495Arg)
c.7474G>A (p.Gly2492Arg)
c.7435G>A (p.Gly2479Arg)
c.7381G>A (p.Gly2461Arg)
c.7285G>A (p.Gly2429Arg)
c.7255G>A (p.Gly2419Arg)
c.7180G>A (p.Gly2394Arg)
c.7078G>A (p.Gly2360Arg)
c.6709G>A (p.Gly2237Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843152G>CCA16037760APCc.7612G>C (p.Gly2538Arg)
c.*7564G>C (n.*7564G>C)
c.7504G>C (p.Gly2502Arg)
c.7558G>C (p.Gly2520Arg)
c.231-13497G>C
c.7588G>C (p.Gly2530Arg)
c.7483G>C (p.Gly2495Arg)
c.7474G>C (p.Gly2492Arg)
c.7435G>C (p.Gly2479Arg)
c.7381G>C (p.Gly2461Arg)
c.7285G>C (p.Gly2429Arg)
c.7255G>C (p.Gly2419Arg)
c.7180G>C (p.Gly2394Arg)
c.7078G>C (p.Gly2360Arg)
c.6709G>C (p.Gly2237Arg)
5g.112843152G=CA1573471856APCc.7612G= (p.Gly2538=)
c.*7564G= (n.*7564G=)
c.7504G= (p.Gly2502=)
c.7558G= (p.Gly2520=)
c.231-13497G=
c.7588G= (p.Gly2530=)
c.7483G= (p.Gly2495=)
c.7474G= (p.Gly2492=)
c.7435G= (p.Gly2479=)
c.7381G= (p.Gly2461=)
c.7285G= (p.Gly2429=)
c.7255G= (p.Gly2419=)
c.7180G= (p.Gly2394=)
c.7078G= (p.Gly2360=)
c.6709G= (p.Gly2237=)
5g.112843152G>TCA16037761APCc.7612G>T (p.Gly2538Ter)
c.*7564G>T (n.*7564G>T)
c.7504G>T (p.Gly2502Ter)
c.7558G>T (p.Gly2520Ter)
c.231-13497G>T
c.7588G>T (p.Gly2530Ter)
c.7483G>T (p.Gly2495Ter)
c.7474G>T (p.Gly2492Ter)
c.7435G>T (p.Gly2479Ter)
c.7381G>T (p.Gly2461Ter)
c.7285G>T (p.Gly2429Ter)
c.7255G>T (p.Gly2419Ter)
c.7180G>T (p.Gly2394Ter)
c.7078G>T (p.Gly2360Ter)
c.6709G>T (p.Gly2237Ter)
dbSNP
5g.112843153G>ACA16037762APCc.7613G>A (p.Gly2538Glu)
c.*7565G>A (n.*7565G>A)
c.7505G>A (p.Gly2502Glu)
c.7559G>A (p.Gly2520Glu)
c.231-13496G>A
c.7589G>A (p.Gly2530Glu)
c.7484G>A (p.Gly2495Glu)
c.7475G>A (p.Gly2492Glu)
c.7436G>A (p.Gly2479Glu)
c.7382G>A (p.Gly2461Glu)
c.7286G>A (p.Gly2429Glu)
c.7256G>A (p.Gly2419Glu)
c.7181G>A (p.Gly2394Glu)
c.7079G>A (p.Gly2360Glu)
c.6710G>A (p.Gly2237Glu)
dbSNP
5g.112843153G>CCA16037763APCc.7613G>C (p.Gly2538Ala)
c.*7565G>C (n.*7565G>C)
c.7505G>C (p.Gly2502Ala)
c.7559G>C (p.Gly2520Ala)
c.231-13496G>C
c.7589G>C (p.Gly2530Ala)
c.7484G>C (p.Gly2495Ala)
c.7475G>C (p.Gly2492Ala)
c.7436G>C (p.Gly2479Ala)
c.7382G>C (p.Gly2461Ala)
c.7286G>C (p.Gly2429Ala)
c.7256G>C (p.Gly2419Ala)
c.7181G>C (p.Gly2394Ala)
c.7079G>C (p.Gly2360Ala)
c.6710G>C (p.Gly2237Ala)
dbSNP
5g.112843153G>TCA16037764APCc.7613G>T (p.Gly2538Val)
c.*7565G>T (n.*7565G>T)
c.7505G>T (p.Gly2502Val)
c.7559G>T (p.Gly2520Val)
c.231-13496G>T
c.7589G>T (p.Gly2530Val)
c.7484G>T (p.Gly2495Val)
c.7475G>T (p.Gly2492Val)
c.7436G>T (p.Gly2479Val)
c.7382G>T (p.Gly2461Val)
c.7286G>T (p.Gly2429Val)
c.7256G>T (p.Gly2419Val)
c.7181G>T (p.Gly2394Val)
c.7079G>T (p.Gly2360Val)
c.6710G>T (p.Gly2237Val)
dbSNP
5g.112843154A=CA1573471871APCc.7614A= (p.Gly2538=)
c.*7566A= (n.*7566A=)
c.7506A= (p.Gly2502=)
c.7560A= (p.Gly2520=)
c.231-13495A=
c.7590A= (p.Gly2530=)
c.7485A= (p.Gly2495=)
c.7476A= (p.Gly2492=)
c.7437A= (p.Gly2479=)
c.7383A= (p.Gly2461=)
c.7287A= (p.Gly2429=)
c.7257A= (p.Gly2419=)
c.7182A= (p.Gly2394=)
c.7080A= (p.Gly2360=)
c.6711A= (p.Gly2237=)
5g.112843154A>CCA446210893APCc.7614A>C (p.Gly2538=)
c.*7566A>C (n.*7566A>C)
c.7506A>C (p.Gly2502=)
c.7560A>C (p.Gly2520=)
c.231-13495A>C
c.7590A>C (p.Gly2530=)
c.7485A>C (p.Gly2495=)
c.7476A>C (p.Gly2492=)
c.7437A>C (p.Gly2479=)
c.7383A>C (p.Gly2461=)
c.7287A>C (p.Gly2429=)
c.7257A>C (p.Gly2419=)
c.7182A>C (p.Gly2394=)
c.7080A>C (p.Gly2360=)
c.6711A>C (p.Gly2237=)
5g.112843154A>GCA446210894APCc.7614A>G (p.Gly2538=)
c.*7566A>G (n.*7566A>G)
c.7506A>G (p.Gly2502=)
c.7560A>G (p.Gly2520=)
c.231-13495A>G
c.7590A>G (p.Gly2530=)
c.7485A>G (p.Gly2495=)
c.7476A>G (p.Gly2492=)
c.7437A>G (p.Gly2479=)
c.7383A>G (p.Gly2461=)
c.7287A>G (p.Gly2429=)
c.7257A>G (p.Gly2419=)
c.7182A>G (p.Gly2394=)
c.7080A>G (p.Gly2360=)
c.6711A>G (p.Gly2237=)
ClinVar dbSNP
5g.112843154A>TCA446210895APCc.7614A>T (p.Gly2538=)
c.*7566A>T (n.*7566A>T)
c.7506A>T (p.Gly2502=)
c.7560A>T (p.Gly2520=)
c.231-13495A>T
c.7590A>T (p.Gly2530=)
c.7485A>T (p.Gly2495=)
c.7476A>T (p.Gly2492=)
c.7437A>T (p.Gly2479=)
c.7383A>T (p.Gly2461=)
c.7287A>T (p.Gly2429=)
c.7257A>T (p.Gly2419=)
c.7182A>T (p.Gly2394=)
c.7080A>T (p.Gly2360=)
c.6711A>T (p.Gly2237=)
dbSNP
5g.112843155A=CA1573471880APCc.7615A= (p.Arg2539=)
c.*7567A= (n.*7567A=)
c.7507A= (p.Arg2503=)
c.7561A= (p.Arg2521=)
c.231-13494A=
c.7591A= (p.Arg2531=)
c.7486A= (p.Arg2496=)
c.7477A= (p.Arg2493=)
c.7438A= (p.Arg2480=)
c.7384A= (p.Arg2462=)
c.7288A= (p.Arg2430=)
c.7258A= (p.Arg2420=)
c.7183A= (p.Arg2395=)
c.7081A= (p.Arg2361=)
c.6712A= (p.Arg2238=)
5g.112843155A>CCA048437APCc.7615A>C (p.Arg2539=)
c.*7567A>C (n.*7567A>C)
c.7507A>C (p.Arg2503=)
c.7561A>C (p.Arg2521=)
c.231-13494A>C
c.7591A>C (p.Arg2531=)
c.7486A>C (p.Arg2496=)
c.7477A>C (p.Arg2493=)
c.7438A>C (p.Arg2480=)
c.7384A>C (p.Arg2462=)
c.7288A>C (p.Arg2430=)
c.7258A>C (p.Arg2420=)
c.7183A>C (p.Arg2395=)
c.7081A>C (p.Arg2361=)
c.6712A>C (p.Arg2238=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843155A>GCA16037765APCc.7615A>G (p.Arg2539Gly)
c.*7567A>G (n.*7567A>G)
c.7507A>G (p.Arg2503Gly)
c.7561A>G (p.Arg2521Gly)
c.231-13494A>G
c.7591A>G (p.Arg2531Gly)
c.7486A>G (p.Arg2496Gly)
c.7477A>G (p.Arg2493Gly)
c.7438A>G (p.Arg2480Gly)
c.7384A>G (p.Arg2462Gly)
c.7288A>G (p.Arg2430Gly)
c.7258A>G (p.Arg2420Gly)
c.7183A>G (p.Arg2395Gly)
c.7081A>G (p.Arg2361Gly)
c.6712A>G (p.Arg2238Gly)
ClinVar dbSNP
5g.112843155A>TCA16037766APCc.7615A>T (p.Arg2539Ter)
c.*7567A>T (n.*7567A>T)
c.7507A>T (p.Arg2503Ter)
c.7561A>T (p.Arg2521Ter)
c.231-13494A>T
c.7591A>T (p.Arg2531Ter)
c.7486A>T (p.Arg2496Ter)
c.7477A>T (p.Arg2493Ter)
c.7438A>T (p.Arg2480Ter)
c.7384A>T (p.Arg2462Ter)
c.7288A>T (p.Arg2430Ter)
c.7258A>T (p.Arg2420Ter)
c.7183A>T (p.Arg2395Ter)
c.7081A>T (p.Arg2361Ter)
c.6712A>T (p.Arg2238Ter)
dbSNP
5g.112843156G>ACA16037767APCc.7616G>A (p.Arg2539Lys)
c.*7568G>A (n.*7568G>A)
c.7508G>A (p.Arg2503Lys)
c.7562G>A (p.Arg2521Lys)
c.231-13493G>A
c.7592G>A (p.Arg2531Lys)
c.7487G>A (p.Arg2496Lys)
c.7478G>A (p.Arg2493Lys)
c.7439G>A (p.Arg2480Lys)
c.7385G>A (p.Arg2462Lys)
c.7289G>A (p.Arg2430Lys)
c.7259G>A (p.Arg2420Lys)
c.7184G>A (p.Arg2395Lys)
c.7082G>A (p.Arg2361Lys)
c.6713G>A (p.Arg2238Lys)
dbSNP
5g.112843156G>CCA16037768APCc.7616G>C (p.Arg2539Thr)
c.*7568G>C (n.*7568G>C)
c.7508G>C (p.Arg2503Thr)
c.7562G>C (p.Arg2521Thr)
c.231-13493G>C
c.7592G>C (p.Arg2531Thr)
c.7487G>C (p.Arg2496Thr)
c.7478G>C (p.Arg2493Thr)
c.7439G>C (p.Arg2480Thr)
c.7385G>C (p.Arg2462Thr)
c.7289G>C (p.Arg2430Thr)
c.7259G>C (p.Arg2420Thr)
c.7184G>C (p.Arg2395Thr)
c.7082G>C (p.Arg2361Thr)
c.6713G>C (p.Arg2238Thr)
dbSNP
5g.112843156G>TCA16037769APCc.7616G>T (p.Arg2539Ile)
c.*7568G>T (n.*7568G>T)
c.7508G>T (p.Arg2503Ile)
c.7562G>T (p.Arg2521Ile)
c.231-13493G>T
c.7592G>T (p.Arg2531Ile)
c.7487G>T (p.Arg2496Ile)
c.7478G>T (p.Arg2493Ile)
c.7439G>T (p.Arg2480Ile)
c.7385G>T (p.Arg2462Ile)
c.7289G>T (p.Arg2430Ile)
c.7259G>T (p.Arg2420Ile)
c.7184G>T (p.Arg2395Ile)
c.7082G>T (p.Arg2361Ile)
c.6713G>T (p.Arg2238Ile)
ClinVar gnomAD v4
5g.112843157A>CCA16037770APCc.7617A>C (p.Arg2539Ser)
c.*7569A>C (n.*7569A>C)
c.7509A>C (p.Arg2503Ser)
c.7563A>C (p.Arg2521Ser)
c.231-13492A>C
c.7593A>C (p.Arg2531Ser)
c.7488A>C (p.Arg2496Ser)
c.7479A>C (p.Arg2493Ser)
c.7440A>C (p.Arg2480Ser)
c.7386A>C (p.Arg2462Ser)
c.7290A>C (p.Arg2430Ser)
c.7260A>C (p.Arg2420Ser)
c.7185A>C (p.Arg2395Ser)
c.7083A>C (p.Arg2361Ser)
c.6714A>C (p.Arg2238Ser)
ClinVar
5g.112843157A>GCA446210896APCc.7617A>G (p.Arg2539=)
c.*7569A>G (n.*7569A>G)
c.7509A>G (p.Arg2503=)
c.7563A>G (p.Arg2521=)
c.231-13492A>G
c.7593A>G (p.Arg2531=)
c.7488A>G (p.Arg2496=)
c.7479A>G (p.Arg2493=)
c.7440A>G (p.Arg2480=)
c.7386A>G (p.Arg2462=)
c.7290A>G (p.Arg2430=)
c.7260A>G (p.Arg2420=)
c.7185A>G (p.Arg2395=)
c.7083A>G (p.Arg2361=)
c.6714A>G (p.Arg2238=)
ClinVar
5g.112843157A>TCA16037771APCc.7617A>T (p.Arg2539Ser)
c.*7569A>T (n.*7569A>T)
c.7509A>T (p.Arg2503Ser)
c.7563A>T (p.Arg2521Ser)
c.231-13492A>T
c.7593A>T (p.Arg2531Ser)
c.7488A>T (p.Arg2496Ser)
c.7479A>T (p.Arg2493Ser)
c.7440A>T (p.Arg2480Ser)
c.7386A>T (p.Arg2462Ser)
c.7290A>T (p.Arg2430Ser)
c.7260A>T (p.Arg2420Ser)
c.7185A>T (p.Arg2395Ser)
c.7083A>T (p.Arg2361Ser)
c.6714A>T (p.Arg2238Ser)
5g.112843158C>ACA048449APCc.7618C>A (p.Pro2540Thr)
c.*7570C>A (n.*7570C>A)
c.7510C>A (p.Pro2504Thr)
c.7564C>A (p.Pro2522Thr)
c.231-13491C>A
c.7594C>A (p.Pro2532Thr)
c.7489C>A (p.Pro2497Thr)
c.7480C>A (p.Pro2494Thr)
c.7441C>A (p.Pro2481Thr)
c.7387C>A (p.Pro2463Thr)
c.7291C>A (p.Pro2431Thr)
c.7261C>A (p.Pro2421Thr)
c.7186C>A (p.Pro2396Thr)
c.7084C>A (p.Pro2362Thr)
c.6715C>A (p.Pro2239Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843158C=CA1573471892APCc.7618C= (p.Pro2540=)
c.*7570C= (n.*7570C=)
c.7510C= (p.Pro2504=)
c.7564C= (p.Pro2522=)
c.231-13491C=
c.7594C= (p.Pro2532=)
c.7489C= (p.Pro2497=)
c.7480C= (p.Pro2494=)
c.7441C= (p.Pro2481=)
c.7387C= (p.Pro2463=)
c.7291C= (p.Pro2431=)
c.7261C= (p.Pro2421=)
c.7186C= (p.Pro2396=)
c.7084C= (p.Pro2362=)
c.6715C= (p.Pro2239=)
5g.112843158C>GCA16037772APCc.7618C>G (p.Pro2540Ala)
c.*7570C>G (n.*7570C>G)
c.7510C>G (p.Pro2504Ala)
c.7564C>G (p.Pro2522Ala)
c.231-13491C>G
c.7594C>G (p.Pro2532Ala)
c.7489C>G (p.Pro2497Ala)
c.7480C>G (p.Pro2494Ala)
c.7441C>G (p.Pro2481Ala)
c.7387C>G (p.Pro2463Ala)
c.7291C>G (p.Pro2431Ala)
c.7261C>G (p.Pro2421Ala)
c.7186C>G (p.Pro2396Ala)
c.7084C>G (p.Pro2362Ala)
c.6715C>G (p.Pro2239Ala)
ClinVar dbSNP
5g.112843158C>TCA16037773APCc.7618C>T (p.Pro2540Ser)
c.*7570C>T (n.*7570C>T)
c.7510C>T (p.Pro2504Ser)
c.7564C>T (p.Pro2522Ser)
c.231-13491C>T
c.7594C>T (p.Pro2532Ser)
c.7489C>T (p.Pro2497Ser)
c.7480C>T (p.Pro2494Ser)
c.7441C>T (p.Pro2481Ser)
c.7387C>T (p.Pro2463Ser)
c.7291C>T (p.Pro2431Ser)
c.7261C>T (p.Pro2421Ser)
c.7186C>T (p.Pro2396Ser)
c.7084C>T (p.Pro2362Ser)
c.6715C>T (p.Pro2239Ser)
dbSNP
5g.112843159C>ACA048460APCc.7619C>A (p.Pro2540Gln)
c.*7571C>A (n.*7571C>A)
c.7511C>A (p.Pro2504Gln)
c.7565C>A (p.Pro2522Gln)
c.231-13490C>A
c.7595C>A (p.Pro2532Gln)
c.7490C>A (p.Pro2497Gln)
c.7481C>A (p.Pro2494Gln)
c.7442C>A (p.Pro2481Gln)
c.7388C>A (p.Pro2463Gln)
c.7292C>A (p.Pro2431Gln)
c.7262C>A (p.Pro2421Gln)
c.7187C>A (p.Pro2396Gln)
c.7085C>A (p.Pro2362Gln)
c.6716C>A (p.Pro2239Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843159C=CA1573471907APCc.7619C= (p.Pro2540=)
c.*7571C= (n.*7571C=)
c.7511C= (p.Pro2504=)
c.7565C= (p.Pro2522=)
c.231-13490C=
c.7595C= (p.Pro2532=)
c.7490C= (p.Pro2497=)
c.7481C= (p.Pro2494=)
c.7442C= (p.Pro2481=)
c.7388C= (p.Pro2463=)
c.7292C= (p.Pro2431=)
c.7262C= (p.Pro2421=)
c.7187C= (p.Pro2396=)
c.7085C= (p.Pro2362=)
c.6716C= (p.Pro2239=)
5g.112843159C>GCA16037774APCc.7619C>G (p.Pro2540Arg)
c.*7571C>G (n.*7571C>G)
c.7511C>G (p.Pro2504Arg)
c.7565C>G (p.Pro2522Arg)
c.231-13490C>G
c.7595C>G (p.Pro2532Arg)
c.7490C>G (p.Pro2497Arg)
c.7481C>G (p.Pro2494Arg)
c.7442C>G (p.Pro2481Arg)
c.7388C>G (p.Pro2463Arg)
c.7292C>G (p.Pro2431Arg)
c.7262C>G (p.Pro2421Arg)
c.7187C>G (p.Pro2396Arg)
c.7085C>G (p.Pro2362Arg)
c.6716C>G (p.Pro2239Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843159C>TCA16037775APCc.7619C>T (p.Pro2540Leu)
c.*7571C>T (n.*7571C>T)
c.7511C>T (p.Pro2504Leu)
c.7565C>T (p.Pro2522Leu)
c.231-13490C>T
c.7595C>T (p.Pro2532Leu)
c.7490C>T (p.Pro2497Leu)
c.7481C>T (p.Pro2494Leu)
c.7442C>T (p.Pro2481Leu)
c.7388C>T (p.Pro2463Leu)
c.7292C>T (p.Pro2431Leu)
c.7262C>T (p.Pro2421Leu)
c.7187C>T (p.Pro2396Leu)
c.7085C>T (p.Pro2362Leu)
c.6716C>T (p.Pro2239Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843160A>CCA446210898APCc.7620A>C (p.Pro2540=)
c.*7572A>C (n.*7572A>C)
c.7512A>C (p.Pro2504=)
c.7566A>C (p.Pro2522=)
c.231-13489A>C
c.7596A>C (p.Pro2532=)
c.7491A>C (p.Pro2497=)
c.7482A>C (p.Pro2494=)
c.7443A>C (p.Pro2481=)
c.7389A>C (p.Pro2463=)
c.7293A>C (p.Pro2431=)
c.7263A>C (p.Pro2421=)
c.7188A>C (p.Pro2396=)
c.7086A>C (p.Pro2362=)
c.6717A>C (p.Pro2239=)
5g.112843160A>GCA446210899APCc.7620A>G (p.Pro2540=)
c.*7572A>G (n.*7572A>G)
c.7512A>G (p.Pro2504=)
c.7566A>G (p.Pro2522=)
c.231-13489A>G
c.7596A>G (p.Pro2532=)
c.7491A>G (p.Pro2497=)
c.7482A>G (p.Pro2494=)
c.7443A>G (p.Pro2481=)
c.7389A>G (p.Pro2463=)
c.7293A>G (p.Pro2431=)
c.7263A>G (p.Pro2421=)
c.7188A>G (p.Pro2396=)
c.7086A>G (p.Pro2362=)
c.6717A>G (p.Pro2239=)
5g.112843160A>TCA446210897APCc.7620A>T (p.Pro2540=)
c.*7572A>T (n.*7572A>T)
c.7512A>T (p.Pro2504=)
c.7566A>T (p.Pro2522=)
c.231-13489A>T
c.7596A>T (p.Pro2532=)
c.7491A>T (p.Pro2497=)
c.7482A>T (p.Pro2494=)
c.7443A>T (p.Pro2481=)
c.7389A>T (p.Pro2463=)
c.7293A>T (p.Pro2431=)
c.7263A>T (p.Pro2421=)
c.7188A>T (p.Pro2396=)
c.7086A>T (p.Pro2362=)
c.6717A>T (p.Pro2239=)
5g.112843161G>ACA16037776APCc.7621G>A (p.Ala2541Thr)
c.*7573G>A (n.*7573G>A)
c.7513G>A (p.Ala2505Thr)
c.7567G>A (p.Ala2523Thr)
c.231-13488G>A
c.7597G>A (p.Ala2533Thr)
c.7492G>A (p.Ala2498Thr)
c.7483G>A (p.Ala2495Thr)
c.7444G>A (p.Ala2482Thr)
c.7390G>A (p.Ala2464Thr)
c.7294G>A (p.Ala2432Thr)
c.7264G>A (p.Ala2422Thr)
c.7189G>A (p.Ala2397Thr)
c.7087G>A (p.Ala2363Thr)
c.6718G>A (p.Ala2240Thr)
5g.112843161G>CCA16037777APCc.7621G>C (p.Ala2541Pro)
c.*7573G>C (n.*7573G>C)
c.7513G>C (p.Ala2505Pro)
c.7567G>C (p.Ala2523Pro)
c.231-13488G>C
c.7597G>C (p.Ala2533Pro)
c.7492G>C (p.Ala2498Pro)
c.7483G>C (p.Ala2495Pro)
c.7444G>C (p.Ala2482Pro)
c.7390G>C (p.Ala2464Pro)
c.7294G>C (p.Ala2432Pro)
c.7264G>C (p.Ala2422Pro)
c.7189G>C (p.Ala2397Pro)
c.7087G>C (p.Ala2363Pro)
c.6718G>C (p.Ala2240Pro)
5g.112843161G=CA1573471920APCc.7621G= (p.Ala2541=)
c.*7573G= (n.*7573G=)
c.7513G= (p.Ala2505=)
c.7567G= (p.Ala2523=)
c.231-13488G=
c.7597G= (p.Ala2533=)
c.7492G= (p.Ala2498=)
c.7483G= (p.Ala2495=)
c.7444G= (p.Ala2482=)
c.7390G= (p.Ala2464=)
c.7294G= (p.Ala2432=)
c.7264G= (p.Ala2422=)
c.7189G= (p.Ala2397=)
c.7087G= (p.Ala2363=)
c.6718G= (p.Ala2240=)
5g.112843161G>TCA16037778APCc.7621G>T (p.Ala2541Ser)
c.*7573G>T (n.*7573G>T)
c.7513G>T (p.Ala2505Ser)
c.7567G>T (p.Ala2523Ser)
c.231-13488G>T
c.7597G>T (p.Ala2533Ser)
c.7492G>T (p.Ala2498Ser)
c.7483G>T (p.Ala2495Ser)
c.7444G>T (p.Ala2482Ser)
c.7390G>T (p.Ala2464Ser)
c.7294G>T (p.Ala2432Ser)
c.7264G>T (p.Ala2422Ser)
c.7189G>T (p.Ala2397Ser)
c.7087G>T (p.Ala2363Ser)
c.6718G>T (p.Ala2240Ser)
dbSNP
5g.112843162C>ACA16037779APCc.7622C>A (p.Ala2541Glu)
c.*7574C>A (n.*7574C>A)
c.7514C>A (p.Ala2505Glu)
c.7568C>A (p.Ala2523Glu)
c.231-13487C>A
c.7598C>A (p.Ala2533Glu)
c.7493C>A (p.Ala2498Glu)
c.7484C>A (p.Ala2495Glu)
c.7445C>A (p.Ala2482Glu)
c.7391C>A (p.Ala2464Glu)
c.7295C>A (p.Ala2432Glu)
c.7265C>A (p.Ala2422Glu)
c.7190C>A (p.Ala2397Glu)
c.7088C>A (p.Ala2363Glu)
c.6719C>A (p.Ala2240Glu)
dbSNP
5g.112843162C>GCA16037780APCc.7622C>G (p.Ala2541Gly)
c.*7574C>G (n.*7574C>G)
c.7514C>G (p.Ala2505Gly)
c.7568C>G (p.Ala2523Gly)
c.231-13487C>G
c.7598C>G (p.Ala2533Gly)
c.7493C>G (p.Ala2498Gly)
c.7484C>G (p.Ala2495Gly)
c.7445C>G (p.Ala2482Gly)
c.7391C>G (p.Ala2464Gly)
c.7295C>G (p.Ala2432Gly)
c.7265C>G (p.Ala2422Gly)
c.7190C>G (p.Ala2397Gly)
c.7088C>G (p.Ala2363Gly)
c.6719C>G (p.Ala2240Gly)
ClinVar dbSNP
5g.112843162C>TCA16037781APCc.7622C>T (p.Ala2541Val)
c.*7574C>T (n.*7574C>T)
c.7514C>T (p.Ala2505Val)
c.7568C>T (p.Ala2523Val)
c.231-13487C>T
c.7598C>T (p.Ala2533Val)
c.7493C>T (p.Ala2498Val)
c.7484C>T (p.Ala2495Val)
c.7445C>T (p.Ala2482Val)
c.7391C>T (p.Ala2464Val)
c.7295C>T (p.Ala2432Val)
c.7265C>T (p.Ala2422Val)
c.7190C>T (p.Ala2397Val)
c.7088C>T (p.Ala2363Val)
c.6719C>T (p.Ala2240Val)
dbSNP
5g.112843163A>CCA446210902APCc.7623A>C (p.Ala2541=)
c.*7575A>C (n.*7575A>C)
c.7515A>C (p.Ala2505=)
c.7569A>C (p.Ala2523=)
c.231-13486A>C
c.7599A>C (p.Ala2533=)
c.7494A>C (p.Ala2498=)
c.7485A>C (p.Ala2495=)
c.7446A>C (p.Ala2482=)
c.7392A>C (p.Ala2464=)
c.7296A>C (p.Ala2432=)
c.7266A>C (p.Ala2422=)
c.7191A>C (p.Ala2397=)
c.7089A>C (p.Ala2363=)
c.6720A>C (p.Ala2240=)
5g.112843163A>GCA446210900APCc.7623A>G (p.Ala2541=)
c.*7575A>G (n.*7575A>G)
c.7515A>G (p.Ala2505=)
c.7569A>G (p.Ala2523=)
c.231-13486A>G
c.7599A>G (p.Ala2533=)
c.7494A>G (p.Ala2498=)
c.7485A>G (p.Ala2495=)
c.7446A>G (p.Ala2482=)
c.7392A>G (p.Ala2464=)
c.7296A>G (p.Ala2432=)
c.7266A>G (p.Ala2422=)
c.7191A>G (p.Ala2397=)
c.7089A>G (p.Ala2363=)
c.6720A>G (p.Ala2240=)
5g.112843163A>TCA446210901APCc.7623A>T (p.Ala2541=)
c.*7575A>T (n.*7575A>T)
c.7515A>T (p.Ala2505=)
c.7569A>T (p.Ala2523=)
c.231-13486A>T
c.7599A>T (p.Ala2533=)
c.7494A>T (p.Ala2498=)
c.7485A>T (p.Ala2495=)
c.7446A>T (p.Ala2482=)
c.7392A>T (p.Ala2464=)
c.7296A>T (p.Ala2432=)
c.7266A>T (p.Ala2422=)
c.7191A>T (p.Ala2397=)
c.7089A>T (p.Ala2363=)
c.6720A>T (p.Ala2240=)
5g.112843164A=CA1573471943APCc.7624A= (p.Lys2542=)
c.*7576A= (n.*7576A=)
c.7516A= (p.Lys2506=)
c.7570A= (p.Lys2524=)
c.231-13485A=
c.7600A= (p.Lys2534=)
c.7495A= (p.Lys2499=)
c.7486A= (p.Lys2496=)
c.7447A= (p.Lys2483=)
c.7393A= (p.Lys2465=)
c.7297A= (p.Lys2433=)
c.7267A= (p.Lys2423=)
c.7192A= (p.Lys2398=)
c.7090A= (p.Lys2364=)
c.6721A= (p.Lys2241=)
5g.112843164A>CCA16037782APCc.7624A>C (p.Lys2542Gln)
c.*7576A>C (n.*7576A>C)
c.7516A>C (p.Lys2506Gln)
c.7570A>C (p.Lys2524Gln)
c.231-13485A>C
c.7600A>C (p.Lys2534Gln)
c.7495A>C (p.Lys2499Gln)
c.7486A>C (p.Lys2496Gln)
c.7447A>C (p.Lys2483Gln)
c.7393A>C (p.Lys2465Gln)
c.7297A>C (p.Lys2433Gln)
c.7267A>C (p.Lys2423Gln)
c.7192A>C (p.Lys2398Gln)
c.7090A>C (p.Lys2364Gln)
c.6721A>C (p.Lys2241Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843164A>GCA013850APCc.7624A>G (p.Lys2542Glu)
c.*7576A>G (n.*7576A>G)
c.7516A>G (p.Lys2506Glu)
c.7570A>G (p.Lys2524Glu)
c.231-13485A>G
c.7600A>G (p.Lys2534Glu)
c.7495A>G (p.Lys2499Glu)
c.7486A>G (p.Lys2496Glu)
c.7447A>G (p.Lys2483Glu)
c.7393A>G (p.Lys2465Glu)
c.7297A>G (p.Lys2433Glu)
c.7267A>G (p.Lys2423Glu)
c.7192A>G (p.Lys2398Glu)
c.7090A>G (p.Lys2364Glu)
c.6721A>G (p.Lys2241Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843164A>TCA16037783APCc.7624A>T (p.Lys2542Ter)
c.*7576A>T (n.*7576A>T)
c.7516A>T (p.Lys2506Ter)
c.7570A>T (p.Lys2524Ter)
c.231-13485A>T
c.7600A>T (p.Lys2534Ter)
c.7495A>T (p.Lys2499Ter)
c.7486A>T (p.Lys2496Ter)
c.7447A>T (p.Lys2483Ter)
c.7393A>T (p.Lys2465Ter)
c.7297A>T (p.Lys2433Ter)
c.7267A>T (p.Lys2423Ter)
c.7192A>T (p.Lys2398Ter)
c.7090A>T (p.Lys2364Ter)
c.6721A>T (p.Lys2241Ter)
ClinVar dbSNP
5g.112843165A>CCA16037784APCc.7625A>C (p.Lys2542Thr)
c.*7577A>C (n.*7577A>C)
c.7517A>C (p.Lys2506Thr)
c.7571A>C (p.Lys2524Thr)
c.231-13484A>C
c.7601A>C (p.Lys2534Thr)
c.7496A>C (p.Lys2499Thr)
c.7487A>C (p.Lys2496Thr)
c.7448A>C (p.Lys2483Thr)
c.7394A>C (p.Lys2465Thr)
c.7298A>C (p.Lys2433Thr)
c.7268A>C (p.Lys2423Thr)
c.7193A>C (p.Lys2398Thr)
c.7091A>C (p.Lys2364Thr)
c.6722A>C (p.Lys2241Thr)
dbSNP
5g.112843165A>GCA16037785APCc.7625A>G (p.Lys2542Arg)
c.*7577A>G (n.*7577A>G)
c.7517A>G (p.Lys2506Arg)
c.7571A>G (p.Lys2524Arg)
c.231-13484A>G
c.7601A>G (p.Lys2534Arg)
c.7496A>G (p.Lys2499Arg)
c.7487A>G (p.Lys2496Arg)
c.7448A>G (p.Lys2483Arg)
c.7394A>G (p.Lys2465Arg)
c.7298A>G (p.Lys2433Arg)
c.7268A>G (p.Lys2423Arg)
c.7193A>G (p.Lys2398Arg)
c.7091A>G (p.Lys2364Arg)
c.6722A>G (p.Lys2241Arg)
dbSNP
5g.112843165A>TCA16037786APCc.7625A>T (p.Lys2542Met)
c.*7577A>T (n.*7577A>T)
c.7517A>T (p.Lys2506Met)
c.7571A>T (p.Lys2524Met)
c.231-13484A>T
c.7601A>T (p.Lys2534Met)
c.7496A>T (p.Lys2499Met)
c.7487A>T (p.Lys2496Met)
c.7448A>T (p.Lys2483Met)
c.7394A>T (p.Lys2465Met)
c.7298A>T (p.Lys2433Met)
c.7268A>T (p.Lys2423Met)
c.7193A>T (p.Lys2398Met)
c.7091A>T (p.Lys2364Met)
c.6722A>T (p.Lys2241Met)
dbSNP
5g.112843166G>ACA446210903APCc.7626G>A (p.Lys2542=)
c.*7578G>A (n.*7578G>A)
c.7518G>A (p.Lys2506=)
c.7572G>A (p.Lys2524=)
c.231-13483G>A
c.7602G>A (p.Lys2534=)
c.7497G>A (p.Lys2499=)
c.7488G>A (p.Lys2496=)
c.7449G>A (p.Lys2483=)
c.7395G>A (p.Lys2465=)
c.7299G>A (p.Lys2433=)
c.7269G>A (p.Lys2423=)
c.7194G>A (p.Lys2398=)
c.7092G>A (p.Lys2364=)
c.6723G>A (p.Lys2241=)
ClinVar dbSNP
5g.112843166G>CCA16037787APCc.7626G>C (p.Lys2542Asn)
c.*7578G>C (n.*7578G>C)
c.7518G>C (p.Lys2506Asn)
c.7572G>C (p.Lys2524Asn)
c.231-13483G>C
c.7602G>C (p.Lys2534Asn)
c.7497G>C (p.Lys2499Asn)
c.7488G>C (p.Lys2496Asn)
c.7449G>C (p.Lys2483Asn)
c.7395G>C (p.Lys2465Asn)
c.7299G>C (p.Lys2433Asn)
c.7269G>C (p.Lys2423Asn)
c.7194G>C (p.Lys2398Asn)
c.7092G>C (p.Lys2364Asn)
c.6723G>C (p.Lys2241Asn)
dbSNP
5g.112843166G>TCA16037788APCc.7626G>T (p.Lys2542Asn)
c.*7578G>T (n.*7578G>T)
c.7518G>T (p.Lys2506Asn)
c.7572G>T (p.Lys2524Asn)
c.231-13483G>T
c.7602G>T (p.Lys2534Asn)
c.7497G>T (p.Lys2499Asn)
c.7488G>T (p.Lys2496Asn)
c.7449G>T (p.Lys2483Asn)
c.7395G>T (p.Lys2465Asn)
c.7299G>T (p.Lys2433Asn)
c.7269G>T (p.Lys2423Asn)
c.7194G>T (p.Lys2398Asn)
c.7092G>T (p.Lys2364Asn)
c.6723G>T (p.Lys2241Asn)
dbSNP
5g.112843167C>ACA16037789APCc.7627C>A (p.Arg2543Ser)
c.*7579C>A (n.*7579C>A)
c.7519C>A (p.Arg2507Ser)
c.7573C>A (p.Arg2525Ser)
c.231-13482C>A
c.7603C>A (p.Arg2535Ser)
c.7498C>A (p.Arg2500Ser)
c.7489C>A (p.Arg2497Ser)
c.7450C>A (p.Arg2484Ser)
c.7396C>A (p.Arg2466Ser)
c.7300C>A (p.Arg2434Ser)
c.7270C>A (p.Arg2424Ser)
c.7195C>A (p.Arg2399Ser)
c.7093C>A (p.Arg2365Ser)
c.6724C>A (p.Arg2242Ser)
ClinVar dbSNP gnomAD v4
5g.112843167C=CA1573471969APCc.7627C= (p.Arg2543=)
c.*7579C= (n.*7579C=)
c.7519C= (p.Arg2507=)
c.7573C= (p.Arg2525=)
c.231-13482C=
c.7603C= (p.Arg2535=)
c.7498C= (p.Arg2500=)
c.7489C= (p.Arg2497=)
c.7450C= (p.Arg2484=)
c.7396C= (p.Arg2466=)
c.7300C= (p.Arg2434=)
c.7270C= (p.Arg2424=)
c.7195C= (p.Arg2399=)
c.7093C= (p.Arg2365=)
c.6724C= (p.Arg2242=)
5g.112843167C>GCA16037790APCc.7627C>G (p.Arg2543Gly)
c.*7579C>G (n.*7579C>G)
c.7519C>G (p.Arg2507Gly)
c.7573C>G (p.Arg2525Gly)
c.231-13482C>G
c.7603C>G (p.Arg2535Gly)
c.7498C>G (p.Arg2500Gly)
c.7489C>G (p.Arg2497Gly)
c.7450C>G (p.Arg2484Gly)
c.7396C>G (p.Arg2466Gly)
c.7300C>G (p.Arg2434Gly)
c.7270C>G (p.Arg2424Gly)
c.7195C>G (p.Arg2399Gly)
c.7093C>G (p.Arg2365Gly)
c.6724C>G (p.Arg2242Gly)
dbSNP
5g.112843167C>TCA048504APCc.7627C>T (p.Arg2543Cys)
c.*7579C>T (n.*7579C>T)
c.7519C>T (p.Arg2507Cys)
c.7573C>T (p.Arg2525Cys)
c.231-13482C>T
c.7603C>T (p.Arg2535Cys)
c.7498C>T (p.Arg2500Cys)
c.7489C>T (p.Arg2497Cys)
c.7450C>T (p.Arg2484Cys)
c.7396C>T (p.Arg2466Cys)
c.7300C>T (p.Arg2434Cys)
c.7270C>T (p.Arg2424Cys)
c.7195C>T (p.Arg2399Cys)
c.7093C>T (p.Arg2365Cys)
c.6724C>T (p.Arg2242Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843168G>ACA013862APCc.7628G>A (p.Arg2543His)
c.*7580G>A (n.*7580G>A)
c.7520G>A (p.Arg2507His)
c.7574G>A (p.Arg2525His)
c.231-13481G>A
c.7604G>A (p.Arg2535His)
c.7499G>A (p.Arg2500His)
c.7490G>A (p.Arg2497His)
c.7451G>A (p.Arg2484His)
c.7397G>A (p.Arg2466His)
c.7301G>A (p.Arg2434His)
c.7271G>A (p.Arg2424His)
c.7196G>A (p.Arg2399His)
c.7094G>A (p.Arg2365His)
c.6725G>A (p.Arg2242His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843168G>CCA16037791APCc.7628G>C (p.Arg2543Pro)
c.*7580G>C (n.*7580G>C)
c.7520G>C (p.Arg2507Pro)
c.7574G>C (p.Arg2525Pro)
c.231-13481G>C
c.7604G>C (p.Arg2535Pro)
c.7499G>C (p.Arg2500Pro)
c.7490G>C (p.Arg2497Pro)
c.7451G>C (p.Arg2484Pro)
c.7397G>C (p.Arg2466Pro)
c.7301G>C (p.Arg2434Pro)
c.7271G>C (p.Arg2424Pro)
c.7196G>C (p.Arg2399Pro)
c.7094G>C (p.Arg2365Pro)
c.6725G>C (p.Arg2242Pro)
dbSNP
5g.112843168G=CA1573471977APCc.7628G= (p.Arg2543=)
c.*7580G= (n.*7580G=)
c.7520G= (p.Arg2507=)
c.7574G= (p.Arg2525=)
c.231-13481G=
c.7604G= (p.Arg2535=)
c.7499G= (p.Arg2500=)
c.7490G= (p.Arg2497=)
c.7451G= (p.Arg2484=)
c.7397G= (p.Arg2466=)
c.7301G= (p.Arg2434=)
c.7271G= (p.Arg2424=)
c.7196G= (p.Arg2399=)
c.7094G= (p.Arg2365=)
c.6725G= (p.Arg2242=)
5g.112843168G>TCA16037792APCc.7628G>T (p.Arg2543Leu)
c.*7580G>T (n.*7580G>T)
c.7520G>T (p.Arg2507Leu)
c.7574G>T (p.Arg2525Leu)
c.231-13481G>T
c.7604G>T (p.Arg2535Leu)
c.7499G>T (p.Arg2500Leu)
c.7490G>T (p.Arg2497Leu)
c.7451G>T (p.Arg2484Leu)
c.7397G>T (p.Arg2466Leu)
c.7301G>T (p.Arg2434Leu)
c.7271G>T (p.Arg2424Leu)
c.7196G>T (p.Arg2399Leu)
c.7094G>T (p.Arg2365Leu)
c.6725G>T (p.Arg2242Leu)
gnomAD v4
5g.112843169C>ACA048534APCc.7629C>A (p.Arg2543=)
c.*7581C>A (n.*7581C>A)
c.7521C>A (p.Arg2507=)
c.7575C>A (p.Arg2525=)
c.231-13480C>A
c.7605C>A (p.Arg2535=)
c.7500C>A (p.Arg2500=)
c.7491C>A (p.Arg2497=)
c.7452C>A (p.Arg2484=)
c.7398C>A (p.Arg2466=)
c.7302C>A (p.Arg2434=)
c.7272C>A (p.Arg2424=)
c.7197C>A (p.Arg2399=)
c.7095C>A (p.Arg2365=)
c.6726C>A (p.Arg2242=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843169C=CA1573472001APCc.7629C= (p.Arg2543=)
c.*7581C= (n.*7581C=)
c.7521C= (p.Arg2507=)
c.7575C= (p.Arg2525=)
c.231-13480C=
c.7605C= (p.Arg2535=)
c.7500C= (p.Arg2500=)
c.7491C= (p.Arg2497=)
c.7452C= (p.Arg2484=)
c.7398C= (p.Arg2466=)
c.7302C= (p.Arg2434=)
c.7272C= (p.Arg2424=)
c.7197C= (p.Arg2399=)
c.7095C= (p.Arg2365=)
c.6726C= (p.Arg2242=)
5g.112843169C>GCA446210904APCc.7629C>G (p.Arg2543=)
c.*7581C>G (n.*7581C>G)
c.7521C>G (p.Arg2507=)
c.7575C>G (p.Arg2525=)
c.231-13480C>G
c.7605C>G (p.Arg2535=)
c.7500C>G (p.Arg2500=)
c.7491C>G (p.Arg2497=)
c.7452C>G (p.Arg2484=)
c.7398C>G (p.Arg2466=)
c.7302C>G (p.Arg2434=)
c.7272C>G (p.Arg2424=)
c.7197C>G (p.Arg2399=)
c.7095C>G (p.Arg2365=)
c.6726C>G (p.Arg2242=)
dbSNP
5g.112843169C>TCA446210905APCc.7629C>T (p.Arg2543=)
c.*7581C>T (n.*7581C>T)
c.7521C>T (p.Arg2507=)
c.7575C>T (p.Arg2525=)
c.231-13480C>T
c.7605C>T (p.Arg2535=)
c.7500C>T (p.Arg2500=)
c.7491C>T (p.Arg2497=)
c.7452C>T (p.Arg2484=)
c.7398C>T (p.Arg2466=)
c.7302C>T (p.Arg2434=)
c.7272C>T (p.Arg2424=)
c.7197C>T (p.Arg2399=)
c.7095C>T (p.Arg2365=)
c.6726C>T (p.Arg2242=)
ClinVar dbSNP
5g.112843170C>ACA16037793APCc.7630C>A (p.His2544Asn)
c.*7582C>A (n.*7582C>A)
c.7522C>A (p.His2508Asn)
c.7576C>A (p.His2526Asn)
c.231-13479C>A
c.7606C>A (p.His2536Asn)
c.7501C>A (p.His2501Asn)
c.7492C>A (p.His2498Asn)
c.7453C>A (p.His2485Asn)
c.7399C>A (p.His2467Asn)
c.7303C>A (p.His2435Asn)
c.7273C>A (p.His2425Asn)
c.7198C>A (p.His2400Asn)
c.7096C>A (p.His2366Asn)
c.6727C>A (p.His2243Asn)
dbSNP
5g.112843170C=CA1573472036APCc.7630C= (p.His2544=)
c.*7582C= (n.*7582C=)
c.7522C= (p.His2508=)
c.7576C= (p.His2526=)
c.231-13479C=
c.7606C= (p.His2536=)
c.7501C= (p.His2501=)
c.7492C= (p.His2498=)
c.7453C= (p.His2485=)
c.7399C= (p.His2467=)
c.7303C= (p.His2435=)
c.7273C= (p.His2425=)
c.7198C= (p.His2400=)
c.7096C= (p.His2366=)
c.6727C= (p.His2243=)
5g.112843170C>GCA16037794APCc.7630C>G (p.His2544Asp)
c.*7582C>G (n.*7582C>G)
c.7522C>G (p.His2508Asp)
c.7576C>G (p.His2526Asp)
c.231-13479C>G
c.7606C>G (p.His2536Asp)
c.7501C>G (p.His2501Asp)
c.7492C>G (p.His2498Asp)
c.7453C>G (p.His2485Asp)
c.7399C>G (p.His2467Asp)
c.7303C>G (p.His2435Asp)
c.7273C>G (p.His2425Asp)
c.7198C>G (p.His2400Asp)
c.7096C>G (p.His2366Asp)
c.6727C>G (p.His2243Asp)
dbSNP
5g.112843170C>TCA16037795APCc.7630C>T (p.His2544Tyr)
c.*7582C>T (n.*7582C>T)
c.7522C>T (p.His2508Tyr)
c.7576C>T (p.His2526Tyr)
c.231-13479C>T
c.7606C>T (p.His2536Tyr)
c.7501C>T (p.His2501Tyr)
c.7492C>T (p.His2498Tyr)
c.7453C>T (p.His2485Tyr)
c.7399C>T (p.His2467Tyr)
c.7303C>T (p.His2435Tyr)
c.7273C>T (p.His2425Tyr)
c.7198C>T (p.His2400Tyr)
c.7096C>T (p.His2366Tyr)
c.6727C>T (p.His2243Tyr)
ClinVar dbSNP gnomAD v4
5g.112843171A=CA1573472096APCc.7631A= (p.His2544=)
c.*7583A= (n.*7583A=)
c.7523A= (p.His2508=)
c.7577A= (p.His2526=)
c.231-13478A=
c.7607A= (p.His2536=)
c.7502A= (p.His2501=)
c.7493A= (p.His2498=)
c.7454A= (p.His2485=)
c.7400A= (p.His2467=)
c.7304A= (p.His2435=)
c.7274A= (p.His2425=)
c.7199A= (p.His2400=)
c.7097A= (p.His2366=)
c.6728A= (p.His2243=)
5g.112843171A>CCA16037796APCc.7631A>C (p.His2544Pro)
c.*7583A>C (n.*7583A>C)
c.7523A>C (p.His2508Pro)
c.7577A>C (p.His2526Pro)
c.231-13478A>C
c.7607A>C (p.His2536Pro)
c.7502A>C (p.His2501Pro)
c.7493A>C (p.His2498Pro)
c.7454A>C (p.His2485Pro)
c.7400A>C (p.His2467Pro)
c.7304A>C (p.His2435Pro)
c.7274A>C (p.His2425Pro)
c.7199A>C (p.His2400Pro)
c.7097A>C (p.His2366Pro)
c.6728A>C (p.His2243Pro)
dbSNP
5g.112843171A>GCA048553APCc.7631A>G (p.His2544Arg)
c.*7583A>G (n.*7583A>G)
c.7523A>G (p.His2508Arg)
c.7577A>G (p.His2526Arg)
c.231-13478A>G
c.7607A>G (p.His2536Arg)
c.7502A>G (p.His2501Arg)
c.7493A>G (p.His2498Arg)
c.7454A>G (p.His2485Arg)
c.7400A>G (p.His2467Arg)
c.7304A>G (p.His2435Arg)
c.7274A>G (p.His2425Arg)
c.7199A>G (p.His2400Arg)
c.7097A>G (p.His2366Arg)
c.6728A>G (p.His2243Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843171A>TCA16037797APCc.7631A>T (p.His2544Leu)
c.*7583A>T (n.*7583A>T)
c.7523A>T (p.His2508Leu)
c.7577A>T (p.His2526Leu)
c.231-13478A>T
c.7607A>T (p.His2536Leu)
c.7502A>T (p.His2501Leu)
c.7493A>T (p.His2498Leu)
c.7454A>T (p.His2485Leu)
c.7400A>T (p.His2467Leu)
c.7304A>T (p.His2435Leu)
c.7274A>T (p.His2425Leu)
c.7199A>T (p.His2400Leu)
c.7097A>T (p.His2366Leu)
c.6728A>T (p.His2243Leu)
dbSNP
5g.112843172T>ACA16037798APCc.7632T>A (p.His2544Gln)
c.*7584T>A (n.*7584T>A)
c.7524T>A (p.His2508Gln)
c.7578T>A (p.His2526Gln)
c.231-13477T>A
c.7608T>A (p.His2536Gln)
c.7503T>A (p.His2501Gln)
c.7494T>A (p.His2498Gln)
c.7455T>A (p.His2485Gln)
c.7401T>A (p.His2467Gln)
c.7305T>A (p.His2435Gln)
c.7275T>A (p.His2425Gln)
c.7200T>A (p.His2400Gln)
c.7098T>A (p.His2366Gln)
c.6729T>A (p.His2243Gln)
dbSNP
5g.112843172T>CCA013872APCc.7632T>C (p.His2544=)
c.*7584T>C (n.*7584T>C)
c.7524T>C (p.His2508=)
c.7578T>C (p.His2526=)
c.231-13477T>C
c.7608T>C (p.His2536=)
c.7503T>C (p.His2501=)
c.7494T>C (p.His2498=)
c.7455T>C (p.His2485=)
c.7401T>C (p.His2467=)
c.7305T>C (p.His2435=)
c.7275T>C (p.His2425=)
c.7200T>C (p.His2400=)
c.7098T>C (p.His2366=)
c.6729T>C (p.His2243=)
ClinVar dbSNP gnomAD v4
5g.112843172T>GCA16037799APCc.7632T>G (p.His2544Gln)
c.*7584T>G (n.*7584T>G)
c.7524T>G (p.His2508Gln)
c.7578T>G (p.His2526Gln)
c.231-13477T>G
c.7608T>G (p.His2536Gln)
c.7503T>G (p.His2501Gln)
c.7494T>G (p.His2498Gln)
c.7455T>G (p.His2485Gln)
c.7401T>G (p.His2467Gln)
c.7305T>G (p.His2435Gln)
c.7275T>G (p.His2425Gln)
c.7200T>G (p.His2400Gln)
c.7098T>G (p.His2366Gln)
c.6729T>G (p.His2243Gln)
ClinVar gnomAD v4
5g.112843172T=CA1573472119APCc.7632T= (p.His2544=)
c.*7584T= (n.*7584T=)
c.7524T= (p.His2508=)
c.7578T= (p.His2526=)
c.231-13477T=
c.7608T= (p.His2536=)
c.7503T= (p.His2501=)
c.7494T= (p.His2498=)
c.7455T= (p.His2485=)
c.7401T= (p.His2467=)
c.7305T= (p.His2435=)
c.7275T= (p.His2425=)
c.7200T= (p.His2400=)
c.7098T= (p.His2366=)
c.6729T= (p.His2243=)
5g.112843173G>ACA16037800APCc.7633G>A (p.Asp2545Asn)
c.*7585G>A (n.*7585G>A)
c.7525G>A (p.Asp2509Asn)
c.7579G>A (p.Asp2527Asn)
c.231-13476G>A
c.7609G>A (p.Asp2537Asn)
c.7504G>A (p.Asp2502Asn)
c.7495G>A (p.Asp2499Asn)
c.7456G>A (p.Asp2486Asn)
c.7402G>A (p.Asp2468Asn)
c.7306G>A (p.Asp2436Asn)
c.7276G>A (p.Asp2426Asn)
c.7201G>A (p.Asp2401Asn)
c.7099G>A (p.Asp2367Asn)
c.6730G>A (p.Asp2244Asn)
dbSNP gnomAD v4 COSMIC
5g.112843173G>CCA16037801APCc.7633G>C (p.Asp2545His)
c.*7585G>C (n.*7585G>C)
c.7525G>C (p.Asp2509His)
c.7579G>C (p.Asp2527His)
c.231-13476G>C
c.7609G>C (p.Asp2537His)
c.7504G>C (p.Asp2502His)
c.7495G>C (p.Asp2499His)
c.7456G>C (p.Asp2486His)
c.7402G>C (p.Asp2468His)
c.7306G>C (p.Asp2436His)
c.7276G>C (p.Asp2426His)
c.7201G>C (p.Asp2401His)
c.7099G>C (p.Asp2367His)
c.6730G>C (p.Asp2244His)
dbSNP
5g.112843173G>TCA16037802APCc.7633G>T (p.Asp2545Tyr)
c.*7585G>T (n.*7585G>T)
c.7525G>T (p.Asp2509Tyr)
c.7579G>T (p.Asp2527Tyr)
c.231-13476G>T
c.7609G>T (p.Asp2537Tyr)
c.7504G>T (p.Asp2502Tyr)
c.7495G>T (p.Asp2499Tyr)
c.7456G>T (p.Asp2486Tyr)
c.7402G>T (p.Asp2468Tyr)
c.7306G>T (p.Asp2436Tyr)
c.7276G>T (p.Asp2426Tyr)
c.7201G>T (p.Asp2401Tyr)
c.7099G>T (p.Asp2367Tyr)
c.6730G>T (p.Asp2244Tyr)
dbSNP
5g.112843173_112843175delinsGATCA1573472132APCc.7633_7635delinsGAT (p.Asp2545=)
c.*7585_*7587delinsGAT (n.*7585_*7587delinsGAT)
c.7525_7527delinsGAT (p.Asp2509=)
c.7579_7581delinsGAT (p.Asp2527=)
c.231-13476_231-13474delinsGAT
c.7609_7611delinsGAT (p.Asp2537=)
c.7504_7506delinsGAT (p.Asp2502=)
c.7495_7497delinsGAT (p.Asp2499=)
c.7456_7458delinsGAT (p.Asp2486=)
c.7402_7404delinsGAT (p.Asp2468=)
c.7306_7308delinsGAT (p.Asp2436=)
c.7276_7278delinsGAT (p.Asp2426=)
c.7201_7203delinsGAT (p.Asp2401=)
c.7099_7101delinsGAT (p.Asp2367=)
c.6730_6732delinsGAT (p.Asp2244=)
5g.112843174A>CCA16037803APCc.7634A>C (p.Asp2545Ala)
c.*7586A>C (n.*7586A>C)
c.7526A>C (p.Asp2509Ala)
c.7580A>C (p.Asp2527Ala)
c.231-13475A>C
c.7610A>C (p.Asp2537Ala)
c.7505A>C (p.Asp2502Ala)
c.7496A>C (p.Asp2499Ala)
c.7457A>C (p.Asp2486Ala)
c.7403A>C (p.Asp2468Ala)
c.7307A>C (p.Asp2436Ala)
c.7277A>C (p.Asp2426Ala)
c.7202A>C (p.Asp2401Ala)
c.7100A>C (p.Asp2367Ala)
c.6731A>C (p.Asp2244Ala)
5g.112843174A>GCA16037804APCc.7634A>G (p.Asp2545Gly)
c.*7586A>G (n.*7586A>G)
c.7526A>G (p.Asp2509Gly)
c.7580A>G (p.Asp2527Gly)
c.231-13475A>G
c.7610A>G (p.Asp2537Gly)
c.7505A>G (p.Asp2502Gly)
c.7496A>G (p.Asp2499Gly)
c.7457A>G (p.Asp2486Gly)
c.7403A>G (p.Asp2468Gly)
c.7307A>G (p.Asp2436Gly)
c.7277A>G (p.Asp2426Gly)
c.7202A>G (p.Asp2401Gly)
c.7100A>G (p.Asp2367Gly)
c.6731A>G (p.Asp2244Gly)
dbSNP
5g.112843174A>TCA16037805APCc.7634A>T (p.Asp2545Val)
c.*7586A>T (n.*7586A>T)
c.7526A>T (p.Asp2509Val)
c.7580A>T (p.Asp2527Val)
c.231-13475A>T
c.7610A>T (p.Asp2537Val)
c.7505A>T (p.Asp2502Val)
c.7496A>T (p.Asp2499Val)
c.7457A>T (p.Asp2486Val)
c.7403A>T (p.Asp2468Val)
c.7307A>T (p.Asp2436Val)
c.7277A>T (p.Asp2426Val)
c.7202A>T (p.Asp2401Val)
c.7100A>T (p.Asp2367Val)
c.6731A>T (p.Asp2244Val)
dbSNP
5g.112843176_112843177delCA915943523APCc.7636_7637del (p.Ile2546CysfsTer6)
c.*7588_*7589del (n.*7588_*7589del)
c.7528_7529del (p.Ile2510CysfsTer6)
c.7582_7583del (p.Ile2528CysfsTer6)
c.231-13473_231-13472del
c.7612_7613del (p.Ile2538CysfsTer6)
c.7507_7508del (p.Ile2503CysfsTer6)
c.7498_7499del (p.Ile2500CysfsTer6)
c.7459_7460del (p.Ile2487CysfsTer6)
c.7405_7406del (p.Ile2469CysfsTer6)
c.7309_7310del (p.Ile2437CysfsTer6)
c.7279_7280del (p.Ile2427CysfsTer6)
c.7204_7205del (p.Ile2402CysfsTer6)
c.7102_7103del (p.Ile2368CysfsTer6)
c.6733_6734del (p.Ile2245CysfsTer6)
ClinVar dbSNP
5g.112843175T>ACA16037806APCc.7635T>A (p.Asp2545Glu)
c.*7587T>A (n.*7587T>A)
c.7527T>A (p.Asp2509Glu)
c.7581T>A (p.Asp2527Glu)
c.231-13474T>A
c.7611T>A (p.Asp2537Glu)
c.7506T>A (p.Asp2502Glu)
c.7497T>A (p.Asp2499Glu)
c.7458T>A (p.Asp2486Glu)
c.7404T>A (p.Asp2468Glu)
c.7308T>A (p.Asp2436Glu)
c.7278T>A (p.Asp2426Glu)
c.7203T>A (p.Asp2401Glu)
c.7101T>A (p.Asp2367Glu)
c.6732T>A (p.Asp2244Glu)
dbSNP
5g.112843175T>CCA446210906APCc.7635T>C (p.Asp2545=)
c.*7587T>C (n.*7587T>C)
c.7527T>C (p.Asp2509=)
c.7581T>C (p.Asp2527=)
c.231-13474T>C
c.7611T>C (p.Asp2537=)
c.7506T>C (p.Asp2502=)
c.7497T>C (p.Asp2499=)
c.7458T>C (p.Asp2486=)
c.7404T>C (p.Asp2468=)
c.7308T>C (p.Asp2436=)
c.7278T>C (p.Asp2426=)
c.7203T>C (p.Asp2401=)
c.7101T>C (p.Asp2367=)
c.6732T>C (p.Asp2244=)
5g.112843175T>GCA16037807APCc.7635T>G (p.Asp2545Glu)
c.*7587T>G (n.*7587T>G)
c.7527T>G (p.Asp2509Glu)
c.7581T>G (p.Asp2527Glu)
c.231-13474T>G
c.7611T>G (p.Asp2537Glu)
c.7506T>G (p.Asp2502Glu)
c.7497T>G (p.Asp2499Glu)
c.7458T>G (p.Asp2486Glu)
c.7404T>G (p.Asp2468Glu)
c.7308T>G (p.Asp2436Glu)
c.7278T>G (p.Asp2426Glu)
c.7203T>G (p.Asp2401Glu)
c.7101T>G (p.Asp2367Glu)
c.6732T>G (p.Asp2244Glu)
dbSNP
5g.112843176delCA2582341628APCc.7636del (p.Ile2546LeufsTer?)
c.*7588del (n.*7588del)
c.7528del (p.Ile2510LeufsTer?)
c.7582del (p.Ile2528LeufsTer?)
c.231-13473del
c.7612del (p.Ile2538LeufsTer?)
c.7507del (p.Ile2503LeufsTer?)
c.7498del (p.Ile2500LeufsTer?)
c.7459del (p.Ile2487LeufsTer?)
c.7405del (p.Ile2469LeufsTer?)
c.7309del (p.Ile2437LeufsTer?)
c.7279del (p.Ile2427LeufsTer?)
c.7204del (p.Ile2402LeufsTer?)
c.7102del (p.Ile2368LeufsTer?)
c.6733del (p.Ile2245LeufsTer?)
ClinVar
5g.112843176A=CA1573472147APCc.7636A= (p.Ile2546=)
c.*7588A= (n.*7588A=)
c.7528A= (p.Ile2510=)
c.7582A= (p.Ile2528=)
c.231-13473A=
c.7612A= (p.Ile2538=)
c.7507A= (p.Ile2503=)
c.7498A= (p.Ile2500=)
c.7459A= (p.Ile2487=)
c.7405A= (p.Ile2469=)
c.7309A= (p.Ile2437=)
c.7279A= (p.Ile2427=)
c.7204A= (p.Ile2402=)
c.7102A= (p.Ile2368=)
c.6733A= (p.Ile2245=)
5g.112843176A>CCA16037808APCc.7636A>C (p.Ile2546Leu)
c.*7588A>C (n.*7588A>C)
c.7528A>C (p.Ile2510Leu)
c.7582A>C (p.Ile2528Leu)
c.231-13473A>C
c.7612A>C (p.Ile2538Leu)
c.7507A>C (p.Ile2503Leu)
c.7498A>C (p.Ile2500Leu)
c.7459A>C (p.Ile2487Leu)
c.7405A>C (p.Ile2469Leu)
c.7309A>C (p.Ile2437Leu)
c.7279A>C (p.Ile2427Leu)
c.7204A>C (p.Ile2402Leu)
c.7102A>C (p.Ile2368Leu)
c.6733A>C (p.Ile2245Leu)
dbSNP
5g.112843176A>GCA16037809APCc.7636A>G (p.Ile2546Val)
c.*7588A>G (n.*7588A>G)
c.7528A>G (p.Ile2510Val)
c.7582A>G (p.Ile2528Val)
c.231-13473A>G
c.7612A>G (p.Ile2538Val)
c.7507A>G (p.Ile2503Val)
c.7498A>G (p.Ile2500Val)
c.7459A>G (p.Ile2487Val)
c.7405A>G (p.Ile2469Val)
c.7309A>G (p.Ile2437Val)
c.7279A>G (p.Ile2427Val)
c.7204A>G (p.Ile2402Val)
c.7102A>G (p.Ile2368Val)
c.6733A>G (p.Ile2245Val)
ClinVar dbSNP
5g.112843176A>TCA16037810APCc.7636A>T (p.Ile2546Phe)
c.*7588A>T (n.*7588A>T)
c.7528A>T (p.Ile2510Phe)
c.7582A>T (p.Ile2528Phe)
c.231-13473A>T
c.7612A>T (p.Ile2538Phe)
c.7507A>T (p.Ile2503Phe)
c.7498A>T (p.Ile2500Phe)
c.7459A>T (p.Ile2487Phe)
c.7405A>T (p.Ile2469Phe)
c.7309A>T (p.Ile2437Phe)
c.7279A>T (p.Ile2427Phe)
c.7204A>T (p.Ile2402Phe)
c.7102A>T (p.Ile2368Phe)
c.6733A>T (p.Ile2245Phe)
dbSNP
5g.112843176dupCA2674869393APCc.7636dup (p.Ile2546AsnfsTer7)
c.*7588dup (n.*7588dup)
c.7528dup (p.Ile2510AsnfsTer7)
c.7582dup (p.Ile2528AsnfsTer7)
c.231-13473dup
c.7612dup (p.Ile2538AsnfsTer7)
c.7507dup (p.Ile2503AsnfsTer7)
c.7498dup (p.Ile2500AsnfsTer7)
c.7459dup (p.Ile2487AsnfsTer7)
c.7405dup (p.Ile2469AsnfsTer7)
c.7309dup (p.Ile2437AsnfsTer7)
c.7279dup (p.Ile2427AsnfsTer7)
c.7204dup (p.Ile2402AsnfsTer7)
c.7102dup (p.Ile2368AsnfsTer7)
c.6733dup (p.Ile2245AsnfsTer7)
gnomAD v4
5g.112843177T>ACA16037811APCc.7637T>A (p.Ile2546Asn)
c.*7589T>A (n.*7589T>A)
c.7529T>A (p.Ile2510Asn)
c.7583T>A (p.Ile2528Asn)
c.231-13472T>A
c.7613T>A (p.Ile2538Asn)
c.7508T>A (p.Ile2503Asn)
c.7499T>A (p.Ile2500Asn)
c.7460T>A (p.Ile2487Asn)
c.7406T>A (p.Ile2469Asn)
c.7310T>A (p.Ile2437Asn)
c.7280T>A (p.Ile2427Asn)
c.7205T>A (p.Ile2402Asn)
c.7103T>A (p.Ile2368Asn)
c.6734T>A (p.Ile2245Asn)
dbSNP
5g.112843177T>CCA013882APCc.7637T>C (p.Ile2546Thr)
c.*7589T>C (n.*7589T>C)
c.7529T>C (p.Ile2510Thr)
c.7583T>C (p.Ile2528Thr)
c.231-13472T>C
c.7613T>C (p.Ile2538Thr)
c.7508T>C (p.Ile2503Thr)
c.7499T>C (p.Ile2500Thr)
c.7460T>C (p.Ile2487Thr)
c.7406T>C (p.Ile2469Thr)
c.7310T>C (p.Ile2437Thr)
c.7280T>C (p.Ile2427Thr)
c.7205T>C (p.Ile2402Thr)
c.7103T>C (p.Ile2368Thr)
c.6734T>C (p.Ile2245Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843177T>GCA048588APCc.7637T>G (p.Ile2546Ser)
c.*7589T>G (n.*7589T>G)
c.7529T>G (p.Ile2510Ser)
c.7583T>G (p.Ile2528Ser)
c.231-13472T>G
c.7613T>G (p.Ile2538Ser)
c.7508T>G (p.Ile2503Ser)
c.7499T>G (p.Ile2500Ser)
c.7460T>G (p.Ile2487Ser)
c.7406T>G (p.Ile2469Ser)
c.7310T>G (p.Ile2437Ser)
c.7280T>G (p.Ile2427Ser)
c.7205T>G (p.Ile2402Ser)
c.7103T>G (p.Ile2368Ser)
c.6734T>G (p.Ile2245Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843177T=CA1573472159APCc.7637T= (p.Ile2546=)
c.*7589T= (n.*7589T=)
c.7529T= (p.Ile2510=)
c.7583T= (p.Ile2528=)
c.231-13472T=
c.7613T= (p.Ile2538=)
c.7508T= (p.Ile2503=)
c.7499T= (p.Ile2500=)
c.7460T= (p.Ile2487=)
c.7406T= (p.Ile2469=)
c.7310T= (p.Ile2437=)
c.7280T= (p.Ile2427=)
c.7205T= (p.Ile2402=)
c.7103T= (p.Ile2368=)
c.6734T= (p.Ile2245=)
5g.112843178T>ACA446210907APCc.7638T>A (p.Ile2546=)
c.*7590T>A (n.*7590T>A)
c.7530T>A (p.Ile2510=)
c.7584T>A (p.Ile2528=)
c.231-13471T>A
c.7614T>A (p.Ile2538=)
c.7509T>A (p.Ile2503=)
c.7500T>A (p.Ile2500=)
c.7461T>A (p.Ile2487=)
c.7407T>A (p.Ile2469=)
c.7311T>A (p.Ile2437=)
c.7281T>A (p.Ile2427=)
c.7206T>A (p.Ile2402=)
c.7104T>A (p.Ile2368=)
c.6735T>A (p.Ile2245=)
dbSNP COSMIC
5g.112843178T>CCA446210908APCc.7638T>C (p.Ile2546=)
c.*7590T>C (n.*7590T>C)
c.7530T>C (p.Ile2510=)
c.7584T>C (p.Ile2528=)
c.231-13471T>C
c.7614T>C (p.Ile2538=)
c.7509T>C (p.Ile2503=)
c.7500T>C (p.Ile2500=)
c.7461T>C (p.Ile2487=)
c.7407T>C (p.Ile2469=)
c.7311T>C (p.Ile2437=)
c.7281T>C (p.Ile2427=)
c.7206T>C (p.Ile2402=)
c.7104T>C (p.Ile2368=)
c.6735T>C (p.Ile2245=)
dbSNP gnomAD v4
5g.112843178T>GCA16037812APCc.7638T>G (p.Ile2546Met)
c.*7590T>G (n.*7590T>G)
c.7530T>G (p.Ile2510Met)
c.7584T>G (p.Ile2528Met)
c.231-13471T>G
c.7614T>G (p.Ile2538Met)
c.7509T>G (p.Ile2503Met)
c.7500T>G (p.Ile2500Met)
c.7461T>G (p.Ile2487Met)
c.7407T>G (p.Ile2469Met)
c.7311T>G (p.Ile2437Met)
c.7281T>G (p.Ile2427Met)
c.7206T>G (p.Ile2402Met)
c.7104T>G (p.Ile2368Met)
c.6735T>G (p.Ile2245Met)
dbSNP
5g.112843179G>ACA16037813APCc.7639G>A (p.Ala2547Thr)
c.*7591G>A (n.*7591G>A)
c.7531G>A (p.Ala2511Thr)
c.7585G>A (p.Ala2529Thr)
c.231-13470G>A
c.7615G>A (p.Ala2539Thr)
c.7510G>A (p.Ala2504Thr)
c.7501G>A (p.Ala2501Thr)
c.7462G>A (p.Ala2488Thr)
c.7408G>A (p.Ala2470Thr)
c.7312G>A (p.Ala2438Thr)
c.7282G>A (p.Ala2428Thr)
c.7207G>A (p.Ala2403Thr)
c.7105G>A (p.Ala2369Thr)
c.6736G>A (p.Ala2246Thr)
dbSNP
5g.112843179G>CCA16037814APCc.7639G>C (p.Ala2547Pro)
c.*7591G>C (n.*7591G>C)
c.7531G>C (p.Ala2511Pro)
c.7585G>C (p.Ala2529Pro)
c.231-13470G>C
c.7615G>C (p.Ala2539Pro)
c.7510G>C (p.Ala2504Pro)
c.7501G>C (p.Ala2501Pro)
c.7462G>C (p.Ala2488Pro)
c.7408G>C (p.Ala2470Pro)
c.7312G>C (p.Ala2438Pro)
c.7282G>C (p.Ala2428Pro)
c.7207G>C (p.Ala2403Pro)
c.7105G>C (p.Ala2369Pro)
c.6736G>C (p.Ala2246Pro)
dbSNP
5g.112843179G=CA1573472176APCc.7639G= (p.Ala2547=)
c.*7591G= (n.*7591G=)
c.7531G= (p.Ala2511=)
c.7585G= (p.Ala2529=)
c.231-13470G=
c.7615G= (p.Ala2539=)
c.7510G= (p.Ala2504=)
c.7501G= (p.Ala2501=)
c.7462G= (p.Ala2488=)
c.7408G= (p.Ala2470=)
c.7312G= (p.Ala2438=)
c.7282G= (p.Ala2428=)
c.7207G= (p.Ala2403=)
c.7105G= (p.Ala2369=)
c.6736G= (p.Ala2246=)
5g.112843179G>TCA16037815APCc.7639G>T (p.Ala2547Ser)
c.*7591G>T (n.*7591G>T)
c.7531G>T (p.Ala2511Ser)
c.7585G>T (p.Ala2529Ser)
c.231-13470G>T
c.7615G>T (p.Ala2539Ser)
c.7510G>T (p.Ala2504Ser)
c.7501G>T (p.Ala2501Ser)
c.7462G>T (p.Ala2488Ser)
c.7408G>T (p.Ala2470Ser)
c.7312G>T (p.Ala2438Ser)
c.7282G>T (p.Ala2428Ser)
c.7207G>T (p.Ala2403Ser)
c.7105G>T (p.Ala2369Ser)
c.6736G>T (p.Ala2246Ser)
dbSNP gnomAD v2 gnomAD v4
5g.112843180C>ACA16037816APCc.7640C>A (p.Ala2547Glu)
c.*7592C>A (n.*7592C>A)
c.7532C>A (p.Ala2511Glu)
c.7586C>A (p.Ala2529Glu)
c.231-13469C>A
c.7616C>A (p.Ala2539Glu)
c.7511C>A (p.Ala2504Glu)
c.7502C>A (p.Ala2501Glu)
c.7463C>A (p.Ala2488Glu)
c.7409C>A (p.Ala2470Glu)
c.7313C>A (p.Ala2438Glu)
c.7283C>A (p.Ala2428Glu)
c.7208C>A (p.Ala2403Glu)
c.7106C>A (p.Ala2369Glu)
c.6737C>A (p.Ala2246Glu)
dbSNP
5g.112843180C=CA1573472185APCc.7640C= (p.Ala2547=)
c.*7592C= (n.*7592C=)
c.7532C= (p.Ala2511=)
c.7586C= (p.Ala2529=)
c.231-13469C=
c.7616C= (p.Ala2539=)
c.7511C= (p.Ala2504=)
c.7502C= (p.Ala2501=)
c.7463C= (p.Ala2488=)
c.7409C= (p.Ala2470=)
c.7313C= (p.Ala2438=)
c.7283C= (p.Ala2428=)
c.7208C= (p.Ala2403=)
c.7106C= (p.Ala2369=)
c.6737C= (p.Ala2246=)
5g.112843180C>GCA16037817APCc.7640C>G (p.Ala2547Gly)
c.*7592C>G (n.*7592C>G)
c.7532C>G (p.Ala2511Gly)
c.7586C>G (p.Ala2529Gly)
c.231-13469C>G
c.7616C>G (p.Ala2539Gly)
c.7511C>G (p.Ala2504Gly)
c.7502C>G (p.Ala2501Gly)
c.7463C>G (p.Ala2488Gly)
c.7409C>G (p.Ala2470Gly)
c.7313C>G (p.Ala2438Gly)
c.7283C>G (p.Ala2428Gly)
c.7208C>G (p.Ala2403Gly)
c.7106C>G (p.Ala2369Gly)
c.6737C>G (p.Ala2246Gly)
dbSNP
5g.112843180C>TCA16037818APCc.7640C>T (p.Ala2547Val)
c.*7592C>T (n.*7592C>T)
c.7532C>T (p.Ala2511Val)
c.7586C>T (p.Ala2529Val)
c.231-13469C>T
c.7616C>T (p.Ala2539Val)
c.7511C>T (p.Ala2504Val)
c.7502C>T (p.Ala2501Val)
c.7463C>T (p.Ala2488Val)
c.7409C>T (p.Ala2470Val)
c.7313C>T (p.Ala2438Val)
c.7283C>T (p.Ala2428Val)
c.7208C>T (p.Ala2403Val)
c.7106C>T (p.Ala2369Val)
c.6737C>T (p.Ala2246Val)
ClinVar dbSNP
5g.112843181A>CCA446210911APCc.7641A>C (p.Ala2547=)
c.*7593A>C (n.*7593A>C)
c.7533A>C (p.Ala2511=)
c.7587A>C (p.Ala2529=)
c.231-13468A>C
c.7617A>C (p.Ala2539=)
c.7512A>C (p.Ala2504=)
c.7503A>C (p.Ala2501=)
c.7464A>C (p.Ala2488=)
c.7410A>C (p.Ala2470=)
c.7314A>C (p.Ala2438=)
c.7284A>C (p.Ala2428=)
c.7209A>C (p.Ala2403=)
c.7107A>C (p.Ala2369=)
c.6738A>C (p.Ala2246=)
dbSNP
5g.112843181A>GCA446210910APCc.7641A>G (p.Ala2547=)
c.*7593A>G (n.*7593A>G)
c.7533A>G (p.Ala2511=)
c.7587A>G (p.Ala2529=)
c.231-13468A>G
c.7617A>G (p.Ala2539=)
c.7512A>G (p.Ala2504=)
c.7503A>G (p.Ala2501=)
c.7464A>G (p.Ala2488=)
c.7410A>G (p.Ala2470=)
c.7314A>G (p.Ala2438=)
c.7284A>G (p.Ala2428=)
c.7209A>G (p.Ala2403=)
c.7107A>G (p.Ala2369=)
c.6738A>G (p.Ala2246=)
ClinVar dbSNP
5g.112843181A>TCA446210909APCc.7641A>T (p.Ala2547=)
c.*7593A>T (n.*7593A>T)
c.7533A>T (p.Ala2511=)
c.7587A>T (p.Ala2529=)
c.231-13468A>T
c.7617A>T (p.Ala2539=)
c.7512A>T (p.Ala2504=)
c.7503A>T (p.Ala2501=)
c.7464A>T (p.Ala2488=)
c.7410A>T (p.Ala2470=)
c.7314A>T (p.Ala2438=)
c.7284A>T (p.Ala2428=)
c.7209A>T (p.Ala2403=)
c.7107A>T (p.Ala2369=)
c.6738A>T (p.Ala2246=)
ClinVar dbSNP
5g.112843182C>ACA446210912APCc.7642C>A (p.Arg2548=)
c.*7594C>A (n.*7594C>A)
c.7534C>A (p.Arg2512=)
c.7588C>A (p.Arg2530=)
c.231-13467C>A
c.7618C>A (p.Arg2540=)
c.7513C>A (p.Arg2505=)
c.7504C>A (p.Arg2502=)
c.7465C>A (p.Arg2489=)
c.7411C>A (p.Arg2471=)
c.7315C>A (p.Arg2439=)
c.7285C>A (p.Arg2429=)
c.7210C>A (p.Arg2404=)
c.7108C>A (p.Arg2370=)
c.6739C>A (p.Arg2247=)
ClinVar dbSNP
5g.112843182C=CA1573472197APCc.7642C= (p.Arg2548=)
c.*7594C= (n.*7594C=)
c.7534C= (p.Arg2512=)
c.7588C= (p.Arg2530=)
c.231-13467C=
c.7618C= (p.Arg2540=)
c.7513C= (p.Arg2505=)
c.7504C= (p.Arg2502=)
c.7465C= (p.Arg2489=)
c.7411C= (p.Arg2471=)
c.7315C= (p.Arg2439=)
c.7285C= (p.Arg2429=)
c.7210C= (p.Arg2404=)
c.7108C= (p.Arg2370=)
c.6739C= (p.Arg2247=)
5g.112843182C>GCA16037819APCc.7642C>G (p.Arg2548Gly)
c.*7594C>G (n.*7594C>G)
c.7534C>G (p.Arg2512Gly)
c.7588C>G (p.Arg2530Gly)
c.231-13467C>G
c.7618C>G (p.Arg2540Gly)
c.7513C>G (p.Arg2505Gly)
c.7504C>G (p.Arg2502Gly)
c.7465C>G (p.Arg2489Gly)
c.7411C>G (p.Arg2471Gly)
c.7315C>G (p.Arg2439Gly)
c.7285C>G (p.Arg2429Gly)
c.7210C>G (p.Arg2404Gly)
c.7108C>G (p.Arg2370Gly)
c.6739C>G (p.Arg2247Gly)
dbSNP
5g.112843182C>TCA013892APCc.7642C>T (p.Arg2548Trp)
c.*7594C>T (n.*7594C>T)
c.7534C>T (p.Arg2512Trp)
c.7588C>T (p.Arg2530Trp)
c.231-13467C>T
c.7618C>T (p.Arg2540Trp)
c.7513C>T (p.Arg2505Trp)
c.7504C>T (p.Arg2502Trp)
c.7465C>T (p.Arg2489Trp)
c.7411C>T (p.Arg2471Trp)
c.7315C>T (p.Arg2439Trp)
c.7285C>T (p.Arg2429Trp)
c.7210C>T (p.Arg2404Trp)
c.7108C>T (p.Arg2370Trp)
c.6739C>T (p.Arg2247Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843183G>ACA013904APCc.7643G>A (p.Arg2548Gln)
c.*7595G>A (n.*7595G>A)
c.7535G>A (p.Arg2512Gln)
c.7589G>A (p.Arg2530Gln)
c.231-13466G>A
c.7619G>A (p.Arg2540Gln)
c.7514G>A (p.Arg2505Gln)
c.7505G>A (p.Arg2502Gln)
c.7466G>A (p.Arg2489Gln)
c.7412G>A (p.Arg2471Gln)
c.7316G>A (p.Arg2439Gln)
c.7286G>A (p.Arg2429Gln)
c.7211G>A (p.Arg2404Gln)
c.7109G>A (p.Arg2370Gln)
c.6740G>A (p.Arg2247Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843183G>CCA16037820APCc.7643G>C (p.Arg2548Pro)
c.*7595G>C (n.*7595G>C)
c.7535G>C (p.Arg2512Pro)
c.7589G>C (p.Arg2530Pro)
c.231-13466G>C
c.7619G>C (p.Arg2540Pro)
c.7514G>C (p.Arg2505Pro)
c.7505G>C (p.Arg2502Pro)
c.7466G>C (p.Arg2489Pro)
c.7412G>C (p.Arg2471Pro)
c.7316G>C (p.Arg2439Pro)
c.7286G>C (p.Arg2429Pro)
c.7211G>C (p.Arg2404Pro)
c.7109G>C (p.Arg2370Pro)
c.6740G>C (p.Arg2247Pro)
ClinVar dbSNP
5g.112843183G=CA1573472214APCc.7643G= (p.Arg2548=)
c.*7595G= (n.*7595G=)
c.7535G= (p.Arg2512=)
c.7589G= (p.Arg2530=)
c.231-13466G=
c.7619G= (p.Arg2540=)
c.7514G= (p.Arg2505=)
c.7505G= (p.Arg2502=)
c.7466G= (p.Arg2489=)
c.7412G= (p.Arg2471=)
c.7316G= (p.Arg2439=)
c.7286G= (p.Arg2429=)
c.7211G= (p.Arg2404=)
c.7109G= (p.Arg2370=)
c.6740G= (p.Arg2247=)
5g.112843183G>TCA16037821APCc.7643G>T (p.Arg2548Leu)
c.*7595G>T (n.*7595G>T)
c.7535G>T (p.Arg2512Leu)
c.7589G>T (p.Arg2530Leu)
c.231-13466G>T
c.7619G>T (p.Arg2540Leu)
c.7514G>T (p.Arg2505Leu)
c.7505G>T (p.Arg2502Leu)
c.7466G>T (p.Arg2489Leu)
c.7412G>T (p.Arg2471Leu)
c.7316G>T (p.Arg2439Leu)
c.7286G>T (p.Arg2429Leu)
c.7211G>T (p.Arg2404Leu)
c.7109G>T (p.Arg2370Leu)
c.6740G>T (p.Arg2247Leu)
dbSNP
5g.112843184G>ACA446211069APCc.7644G>A (p.Arg2548=)
c.*7596G>A (n.*7596G>A)
c.7536G>A (p.Arg2512=)
c.7590G>A (p.Arg2530=)
c.231-13465G>A
c.7620G>A (p.Arg2540=)
c.7515G>A (p.Arg2505=)
c.7506G>A (p.Arg2502=)
c.7467G>A (p.Arg2489=)
c.7413G>A (p.Arg2471=)
c.7317G>A (p.Arg2439=)
c.7287G>A (p.Arg2429=)
c.7212G>A (p.Arg2404=)
c.7110G>A (p.Arg2370=)
c.6741G>A (p.Arg2247=)
ClinVar dbSNP
5g.112843184G>CCA446211070APCc.7644G>C (p.Arg2548=)
c.*7596G>C (n.*7596G>C)
c.7536G>C (p.Arg2512=)
c.7590G>C (p.Arg2530=)
c.231-13465G>C
c.7620G>C (p.Arg2540=)
c.7515G>C (p.Arg2505=)
c.7506G>C (p.Arg2502=)
c.7467G>C (p.Arg2489=)
c.7413G>C (p.Arg2471=)
c.7317G>C (p.Arg2439=)
c.7287G>C (p.Arg2429=)
c.7212G>C (p.Arg2404=)
c.7110G>C (p.Arg2370=)
c.6741G>C (p.Arg2247=)
5g.112843184G>TCA446211071APCc.7644G>T (p.Arg2548=)
c.*7596G>T (n.*7596G>T)
c.7536G>T (p.Arg2512=)
c.7590G>T (p.Arg2530=)
c.231-13465G>T
c.7620G>T (p.Arg2540=)
c.7515G>T (p.Arg2505=)
c.7506G>T (p.Arg2502=)
c.7467G>T (p.Arg2489=)
c.7413G>T (p.Arg2471=)
c.7317G>T (p.Arg2439=)
c.7287G>T (p.Arg2429=)
c.7212G>T (p.Arg2404=)
c.7110G>T (p.Arg2370=)
c.6741G>T (p.Arg2247=)
dbSNP
5g.112843185T>ACA16037822APCc.7645T>A (p.Ser2549Thr)
c.*7597T>A (n.*7597T>A)
c.7537T>A (p.Ser2513Thr)
c.7591T>A (p.Ser2531Thr)
c.231-13464T>A
c.7621T>A (p.Ser2541Thr)
c.7516T>A (p.Ser2506Thr)
c.7507T>A (p.Ser2503Thr)
c.7468T>A (p.Ser2490Thr)
c.7414T>A (p.Ser2472Thr)
c.7318T>A (p.Ser2440Thr)
c.7288T>A (p.Ser2430Thr)
c.7213T>A (p.Ser2405Thr)
c.7111T>A (p.Ser2371Thr)
c.6742T>A (p.Ser2248Thr)
dbSNP
5g.112843185T>CCA16037823APCc.7645T>C (p.Ser2549Pro)
c.*7597T>C (n.*7597T>C)
c.7537T>C (p.Ser2513Pro)
c.7591T>C (p.Ser2531Pro)
c.231-13464T>C
c.7621T>C (p.Ser2541Pro)
c.7516T>C (p.Ser2506Pro)
c.7507T>C (p.Ser2503Pro)
c.7468T>C (p.Ser2490Pro)
c.7414T>C (p.Ser2472Pro)
c.7318T>C (p.Ser2440Pro)
c.7288T>C (p.Ser2430Pro)
c.7213T>C (p.Ser2405Pro)
c.7111T>C (p.Ser2371Pro)
c.6742T>C (p.Ser2248Pro)
dbSNP
5g.112843185T>GCA16037824APCc.7645T>G (p.Ser2549Ala)
c.*7597T>G (n.*7597T>G)
c.7537T>G (p.Ser2513Ala)
c.7591T>G (p.Ser2531Ala)
c.231-13464T>G
c.7621T>G (p.Ser2541Ala)
c.7516T>G (p.Ser2506Ala)
c.7507T>G (p.Ser2503Ala)
c.7468T>G (p.Ser2490Ala)
c.7414T>G (p.Ser2472Ala)
c.7318T>G (p.Ser2440Ala)
c.7288T>G (p.Ser2430Ala)
c.7213T>G (p.Ser2405Ala)
c.7111T>G (p.Ser2371Ala)
c.6742T>G (p.Ser2248Ala)
ClinVar dbSNP gnomAD v4
5g.112843185T=CA1573472228APCc.7645T= (p.Ser2549=)
c.*7597T= (n.*7597T=)
c.7537T= (p.Ser2513=)
c.7591T= (p.Ser2531=)
c.231-13464T=
c.7621T= (p.Ser2541=)
c.7516T= (p.Ser2506=)
c.7507T= (p.Ser2503=)
c.7468T= (p.Ser2490=)
c.7414T= (p.Ser2472=)
c.7318T= (p.Ser2440=)
c.7288T= (p.Ser2430=)
c.7213T= (p.Ser2405=)
c.7111T= (p.Ser2371=)
c.6742T= (p.Ser2248=)
5g.112843186C>ACA16037825APCc.7646C>A (p.Ser2549Tyr)
c.*7598C>A (n.*7598C>A)
c.7538C>A (p.Ser2513Tyr)
c.7592C>A (p.Ser2531Tyr)
c.231-13463C>A
c.7622C>A (p.Ser2541Tyr)
c.7517C>A (p.Ser2506Tyr)
c.7508C>A (p.Ser2503Tyr)
c.7469C>A (p.Ser2490Tyr)
c.7415C>A (p.Ser2472Tyr)
c.7319C>A (p.Ser2440Tyr)
c.7289C>A (p.Ser2430Tyr)
c.7214C>A (p.Ser2405Tyr)
c.7112C>A (p.Ser2371Tyr)
c.6743C>A (p.Ser2248Tyr)
dbSNP
5g.112843186C=CA1573472250APCc.7646C= (p.Ser2549=)
c.*7598C= (n.*7598C=)
c.7538C= (p.Ser2513=)
c.7592C= (p.Ser2531=)
c.231-13463C=
c.7622C= (p.Ser2541=)
c.7517C= (p.Ser2506=)
c.7508C= (p.Ser2503=)
c.7469C= (p.Ser2490=)
c.7415C= (p.Ser2472=)
c.7319C= (p.Ser2440=)
c.7289C= (p.Ser2430=)
c.7214C= (p.Ser2405=)
c.7112C= (p.Ser2371=)
c.6743C= (p.Ser2248=)
5g.112843186C>GCA16037826APCc.7646C>G (p.Ser2549Cys)
c.*7598C>G (n.*7598C>G)
c.7538C>G (p.Ser2513Cys)
c.7592C>G (p.Ser2531Cys)
c.231-13463C>G
c.7622C>G (p.Ser2541Cys)
c.7517C>G (p.Ser2506Cys)
c.7508C>G (p.Ser2503Cys)
c.7469C>G (p.Ser2490Cys)
c.7415C>G (p.Ser2472Cys)
c.7319C>G (p.Ser2440Cys)
c.7289C>G (p.Ser2430Cys)
c.7214C>G (p.Ser2405Cys)
c.7112C>G (p.Ser2371Cys)
c.6743C>G (p.Ser2248Cys)
ClinVar dbSNP
5g.112843186C>TCA16037827APCc.7646C>T (p.Ser2549Phe)
c.*7598C>T (n.*7598C>T)
c.7538C>T (p.Ser2513Phe)
c.7592C>T (p.Ser2531Phe)
c.231-13463C>T
c.7622C>T (p.Ser2541Phe)
c.7517C>T (p.Ser2506Phe)
c.7508C>T (p.Ser2503Phe)
c.7469C>T (p.Ser2490Phe)
c.7415C>T (p.Ser2472Phe)
c.7319C>T (p.Ser2440Phe)
c.7289C>T (p.Ser2430Phe)
c.7214C>T (p.Ser2405Phe)
c.7112C>T (p.Ser2371Phe)
c.6743C>T (p.Ser2248Phe)
dbSNP
5g.112843187T>ACA446211072APCc.7647T>A (p.Ser2549=)
c.*7599T>A (n.*7599T>A)
c.7539T>A (p.Ser2513=)
c.7593T>A (p.Ser2531=)
c.231-13462T>A
c.7623T>A (p.Ser2541=)
c.7518T>A (p.Ser2506=)
c.7509T>A (p.Ser2503=)
c.7470T>A (p.Ser2490=)
c.7416T>A (p.Ser2472=)
c.7320T>A (p.Ser2440=)
c.7290T>A (p.Ser2430=)
c.7215T>A (p.Ser2405=)
c.7113T>A (p.Ser2371=)
c.6744T>A (p.Ser2248=)
5g.112843187T>CCA446211073APCc.7647T>C (p.Ser2549=)
c.*7599T>C (n.*7599T>C)
c.7539T>C (p.Ser2513=)
c.7593T>C (p.Ser2531=)
c.231-13462T>C
c.7623T>C (p.Ser2541=)
c.7518T>C (p.Ser2506=)
c.7509T>C (p.Ser2503=)
c.7470T>C (p.Ser2490=)
c.7416T>C (p.Ser2472=)
c.7320T>C (p.Ser2440=)
c.7290T>C (p.Ser2430=)
c.7215T>C (p.Ser2405=)
c.7113T>C (p.Ser2371=)
c.6744T>C (p.Ser2248=)
5g.112843187T>GCA446211074APCc.7647T>G (p.Ser2549=)
c.*7599T>G (n.*7599T>G)
c.7539T>G (p.Ser2513=)
c.7593T>G (p.Ser2531=)
c.231-13462T>G
c.7623T>G (p.Ser2541=)
c.7518T>G (p.Ser2506=)
c.7509T>G (p.Ser2503=)
c.7470T>G (p.Ser2490=)
c.7416T>G (p.Ser2472=)
c.7320T>G (p.Ser2440=)
c.7290T>G (p.Ser2430=)
c.7215T>G (p.Ser2405=)
c.7113T>G (p.Ser2371=)
c.6744T>G (p.Ser2248=)
ClinVar dbSNP gnomAD v4
5g.112843187T=CA1573472259APCc.7647T= (p.Ser2549=)
c.*7599T= (n.*7599T=)
c.7539T= (p.Ser2513=)
c.7593T= (p.Ser2531=)
c.231-13462T=
c.7623T= (p.Ser2541=)
c.7518T= (p.Ser2506=)
c.7509T= (p.Ser2503=)
c.7470T= (p.Ser2490=)
c.7416T= (p.Ser2472=)
c.7320T= (p.Ser2440=)
c.7290T= (p.Ser2430=)
c.7215T= (p.Ser2405=)
c.7113T= (p.Ser2371=)
c.6744T= (p.Ser2248=)
5g.112843188C>ACA16037828APCc.7648C>A (p.His2550Asn)
c.*7600C>A (n.*7600C>A)
c.7540C>A (p.His2514Asn)
c.7594C>A (p.His2532Asn)
c.231-13461C>A
c.7624C>A (p.His2542Asn)
c.7519C>A (p.His2507Asn)
c.7510C>A (p.His2504Asn)
c.7471C>A (p.His2491Asn)
c.7417C>A (p.His2473Asn)
c.7321C>A (p.His2441Asn)
c.7291C>A (p.His2431Asn)
c.7216C>A (p.His2406Asn)
c.7114C>A (p.His2372Asn)
c.6745C>A (p.His2249Asn)
5g.112843188C=CA1573472281APCc.7648C= (p.His2550=)
c.*7600C= (n.*7600C=)
c.7540C= (p.His2514=)
c.7594C= (p.His2532=)
c.231-13461C=
c.7624C= (p.His2542=)
c.7519C= (p.His2507=)
c.7510C= (p.His2504=)
c.7471C= (p.His2491=)
c.7417C= (p.His2473=)
c.7321C= (p.His2441=)
c.7291C= (p.His2431=)
c.7216C= (p.His2406=)
c.7114C= (p.His2372=)
c.6745C= (p.His2249=)
5g.112843188C>GCA16037829APCc.7648C>G (p.His2550Asp)
c.*7600C>G (n.*7600C>G)
c.7540C>G (p.His2514Asp)
c.7594C>G (p.His2532Asp)
c.231-13461C>G
c.7624C>G (p.His2542Asp)
c.7519C>G (p.His2507Asp)
c.7510C>G (p.His2504Asp)
c.7471C>G (p.His2491Asp)
c.7417C>G (p.His2473Asp)
c.7321C>G (p.His2441Asp)
c.7291C>G (p.His2431Asp)
c.7216C>G (p.His2406Asp)
c.7114C>G (p.His2372Asp)
c.6745C>G (p.His2249Asp)
ClinVar dbSNP
5g.112843188C>TCA048637APCc.7648C>T (p.His2550Tyr)
c.*7600C>T (n.*7600C>T)
c.7540C>T (p.His2514Tyr)
c.7594C>T (p.His2532Tyr)
c.231-13461C>T
c.7624C>T (p.His2542Tyr)
c.7519C>T (p.His2507Tyr)
c.7510C>T (p.His2504Tyr)
c.7471C>T (p.His2491Tyr)
c.7417C>T (p.His2473Tyr)
c.7321C>T (p.His2441Tyr)
c.7291C>T (p.His2431Tyr)
c.7216C>T (p.His2406Tyr)
c.7114C>T (p.His2372Tyr)
c.6745C>T (p.His2249Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843189A=CA1573472298APCc.7649A= (p.His2550=)
c.*7601A= (n.*7601A=)
c.7541A= (p.His2514=)
c.7595A= (p.His2532=)
c.231-13460A=
c.7625A= (p.His2542=)
c.7520A= (p.His2507=)
c.7511A= (p.His2504=)
c.7472A= (p.His2491=)
c.7418A= (p.His2473=)
c.7322A= (p.His2441=)
c.7292A= (p.His2431=)
c.7217A= (p.His2406=)
c.7115A= (p.His2372=)
c.6746A= (p.His2249=)
5g.112843189A>CCA16037830APCc.7649A>C (p.His2550Pro)
c.*7601A>C (n.*7601A>C)
c.7541A>C (p.His2514Pro)
c.7595A>C (p.His2532Pro)
c.231-13460A>C
c.7625A>C (p.His2542Pro)
c.7520A>C (p.His2507Pro)
c.7511A>C (p.His2504Pro)
c.7472A>C (p.His2491Pro)
c.7418A>C (p.His2473Pro)
c.7322A>C (p.His2441Pro)
c.7292A>C (p.His2431Pro)
c.7217A>C (p.His2406Pro)
c.7115A>C (p.His2372Pro)
c.6746A>C (p.His2249Pro)
5g.112843189A>GCA048653APCc.7649A>G (p.His2550Arg)
c.*7601A>G (n.*7601A>G)
c.7541A>G (p.His2514Arg)
c.7595A>G (p.His2532Arg)
c.231-13460A>G
c.7625A>G (p.His2542Arg)
c.7520A>G (p.His2507Arg)
c.7511A>G (p.His2504Arg)
c.7472A>G (p.His2491Arg)
c.7418A>G (p.His2473Arg)
c.7322A>G (p.His2441Arg)
c.7292A>G (p.His2431Arg)
c.7217A>G (p.His2406Arg)
c.7115A>G (p.His2372Arg)
c.6746A>G (p.His2249Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843189A>TCA16037831APCc.7649A>T (p.His2550Leu)
c.*7601A>T (n.*7601A>T)
c.7541A>T (p.His2514Leu)
c.7595A>T (p.His2532Leu)
c.231-13460A>T
c.7625A>T (p.His2542Leu)
c.7520A>T (p.His2507Leu)
c.7511A>T (p.His2504Leu)
c.7472A>T (p.His2491Leu)
c.7418A>T (p.His2473Leu)
c.7322A>T (p.His2441Leu)
c.7292A>T (p.His2431Leu)
c.7217A>T (p.His2406Leu)
c.7115A>T (p.His2372Leu)
c.6746A>T (p.His2249Leu)
ClinVar
5g.112843190T>ACA16037832APCc.7650T>A (p.His2550Gln)
c.*7602T>A (n.*7602T>A)
c.7542T>A (p.His2514Gln)
c.7596T>A (p.His2532Gln)
c.231-13459T>A
c.7626T>A (p.His2542Gln)
c.7521T>A (p.His2507Gln)
c.7512T>A (p.His2504Gln)
c.7473T>A (p.His2491Gln)
c.7419T>A (p.His2473Gln)
c.7323T>A (p.His2441Gln)
c.7293T>A (p.His2431Gln)
c.7218T>A (p.His2406Gln)
c.7116T>A (p.His2372Gln)
c.6747T>A (p.His2249Gln)
dbSNP
5g.112843190T>CCA446211075APCc.7650T>C (p.His2550=)
c.*7602T>C (n.*7602T>C)
c.7542T>C (p.His2514=)
c.7596T>C (p.His2532=)
c.231-13459T>C
c.7626T>C (p.His2542=)
c.7521T>C (p.His2507=)
c.7512T>C (p.His2504=)
c.7473T>C (p.His2491=)
c.7419T>C (p.His2473=)
c.7323T>C (p.His2441=)
c.7293T>C (p.His2431=)
c.7218T>C (p.His2406=)
c.7116T>C (p.His2372=)
c.6747T>C (p.His2249=)
5g.112843190T>GCA013915APCc.7650T>G (p.His2550Gln)
c.*7602T>G (n.*7602T>G)
c.7542T>G (p.His2514Gln)
c.7596T>G (p.His2532Gln)
c.231-13459T>G
c.7626T>G (p.His2542Gln)
c.7521T>G (p.His2507Gln)
c.7512T>G (p.His2504Gln)
c.7473T>G (p.His2491Gln)
c.7419T>G (p.His2473Gln)
c.7323T>G (p.His2441Gln)
c.7293T>G (p.His2431Gln)
c.7218T>G (p.His2406Gln)
c.7116T>G (p.His2372Gln)
c.6747T>G (p.His2249Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843190T=CA1573472315APCc.7650T= (p.His2550=)
c.*7602T= (n.*7602T=)
c.7542T= (p.His2514=)
c.7596T= (p.His2532=)
c.231-13459T=
c.7626T= (p.His2542=)
c.7521T= (p.His2507=)
c.7512T= (p.His2504=)
c.7473T= (p.His2491=)
c.7419T= (p.His2473=)
c.7323T= (p.His2441=)
c.7293T= (p.His2431=)
c.7218T= (p.His2406=)
c.7116T= (p.His2372=)
c.6747T= (p.His2249=)
5g.112843191T>ACA16037833APCc.7651T>A (p.Ser2551Thr)
c.*7603T>A (n.*7603T>A)
c.7543T>A (p.Ser2515Thr)
c.7597T>A (p.Ser2533Thr)
c.231-13458T>A
c.7627T>A (p.Ser2543Thr)
c.7522T>A (p.Ser2508Thr)
c.7513T>A (p.Ser2505Thr)
c.7474T>A (p.Ser2492Thr)
c.7420T>A (p.Ser2474Thr)
c.7324T>A (p.Ser2442Thr)
c.7294T>A (p.Ser2432Thr)
c.7219T>A (p.Ser2407Thr)
c.7117T>A (p.Ser2373Thr)
c.6748T>A (p.Ser2250Thr)
5g.112843191T>CCA16037834APCc.7651T>C (p.Ser2551Pro)
c.*7603T>C (n.*7603T>C)
c.7543T>C (p.Ser2515Pro)
c.7597T>C (p.Ser2533Pro)
c.231-13458T>C
c.7627T>C (p.Ser2543Pro)
c.7522T>C (p.Ser2508Pro)
c.7513T>C (p.Ser2505Pro)
c.7474T>C (p.Ser2492Pro)
c.7420T>C (p.Ser2474Pro)
c.7324T>C (p.Ser2442Pro)
c.7294T>C (p.Ser2432Pro)
c.7219T>C (p.Ser2407Pro)
c.7117T>C (p.Ser2373Pro)
c.6748T>C (p.Ser2250Pro)
ClinVar dbSNP
5g.112843191T>GCA16037835APCc.7651T>G (p.Ser2551Ala)
c.*7603T>G (n.*7603T>G)
c.7543T>G (p.Ser2515Ala)
c.7597T>G (p.Ser2533Ala)
c.231-13458T>G
c.7627T>G (p.Ser2543Ala)
c.7522T>G (p.Ser2508Ala)
c.7513T>G (p.Ser2505Ala)
c.7474T>G (p.Ser2492Ala)
c.7420T>G (p.Ser2474Ala)
c.7324T>G (p.Ser2442Ala)
c.7294T>G (p.Ser2432Ala)
c.7219T>G (p.Ser2407Ala)
c.7117T>G (p.Ser2373Ala)
c.6748T>G (p.Ser2250Ala)
5g.112843191T=CA1573472325APCc.7651T= (p.Ser2551=)
c.*7603T= (n.*7603T=)
c.7543T= (p.Ser2515=)
c.7597T= (p.Ser2533=)
c.231-13458T=
c.7627T= (p.Ser2543=)
c.7522T= (p.Ser2508=)
c.7513T= (p.Ser2505=)
c.7474T= (p.Ser2492=)
c.7420T= (p.Ser2474=)
c.7324T= (p.Ser2442=)
c.7294T= (p.Ser2432=)
c.7219T= (p.Ser2407=)
c.7117T= (p.Ser2373=)
c.6748T= (p.Ser2250=)
5g.112843192C>ACA16037836APCc.7652C>A (p.Ser2551Tyr)
c.*7604C>A (n.*7604C>A)
c.7544C>A (p.Ser2515Tyr)
c.7598C>A (p.Ser2533Tyr)
c.231-13457C>A
c.7628C>A (p.Ser2543Tyr)
c.7523C>A (p.Ser2508Tyr)
c.7514C>A (p.Ser2505Tyr)
c.7475C>A (p.Ser2492Tyr)
c.7421C>A (p.Ser2474Tyr)
c.7325C>A (p.Ser2442Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7220C>A (p.Ser2407Tyr)
c.7118C>A (p.Ser2373Tyr)
c.6749C>A (p.Ser2250Tyr)
dbSNP
5g.112843192C=CA1573472329APCc.7652C= (p.Ser2551=)
c.*7604C= (n.*7604C=)
c.7544C= (p.Ser2515=)
c.7598C= (p.Ser2533=)
c.231-13457C=
c.7628C= (p.Ser2543=)
c.7523C= (p.Ser2508=)
c.7514C= (p.Ser2505=)
c.7475C= (p.Ser2492=)
c.7421C= (p.Ser2474=)
c.7325C= (p.Ser2442=)
c.7295C= (p.Ser2432=)
c.7220C= (p.Ser2407=)
c.7118C= (p.Ser2373=)
c.6749C= (p.Ser2250=)
5g.112843192C>GCA16037837APCc.7652C>G (p.Ser2551Cys)
c.*7604C>G (n.*7604C>G)
c.7544C>G (p.Ser2515Cys)
c.7598C>G (p.Ser2533Cys)
c.231-13457C>G
c.7628C>G (p.Ser2543Cys)
c.7523C>G (p.Ser2508Cys)
c.7514C>G (p.Ser2505Cys)
c.7475C>G (p.Ser2492Cys)
c.7421C>G (p.Ser2474Cys)
c.7325C>G (p.Ser2442Cys)
c.7295C>G (p.Ser2432Cys)
c.7220C>G (p.Ser2407Cys)
c.7118C>G (p.Ser2373Cys)
c.6749C>G (p.Ser2250Cys)
ClinVar dbSNP
5g.112843192C>TCA16037838APCc.7652C>T (p.Ser2551Phe)
c.*7604C>T (n.*7604C>T)
c.7544C>T (p.Ser2515Phe)
c.7598C>T (p.Ser2533Phe)
c.231-13457C>T
c.7628C>T (p.Ser2543Phe)
c.7523C>T (p.Ser2508Phe)
c.7514C>T (p.Ser2505Phe)
c.7475C>T (p.Ser2492Phe)
c.7421C>T (p.Ser2474Phe)
c.7325C>T (p.Ser2442Phe)
c.7295C>T (p.Ser2432Phe)
c.7220C>T (p.Ser2407Phe)
c.7118C>T (p.Ser2373Phe)
c.6749C>T (p.Ser2250Phe)
ClinVar dbSNP COSMIC
5g.112843193T>ACA446211076APCc.7653T>A (p.Ser2551=)
c.*7605T>A (n.*7605T>A)
c.7545T>A (p.Ser2515=)
c.7599T>A (p.Ser2533=)
c.231-13456T>A
c.7629T>A (p.Ser2543=)
c.7524T>A (p.Ser2508=)
c.7515T>A (p.Ser2505=)
c.7476T>A (p.Ser2492=)
c.7422T>A (p.Ser2474=)
c.7326T>A (p.Ser2442=)
c.7296T>A (p.Ser2432=)
c.7221T>A (p.Ser2407=)
c.7119T>A (p.Ser2373=)
c.6750T>A (p.Ser2250=)
dbSNP
5g.112843193T>CCA446211077APCc.7653T>C (p.Ser2551=)
c.*7605T>C (n.*7605T>C)
c.7545T>C (p.Ser2515=)
c.7599T>C (p.Ser2533=)
c.231-13456T>C
c.7629T>C (p.Ser2543=)
c.7524T>C (p.Ser2508=)
c.7515T>C (p.Ser2505=)
c.7476T>C (p.Ser2492=)
c.7422T>C (p.Ser2474=)
c.7326T>C (p.Ser2442=)
c.7296T>C (p.Ser2432=)
c.7221T>C (p.Ser2407=)
c.7119T>C (p.Ser2373=)
c.6750T>C (p.Ser2250=)
ClinVar dbSNP COSMIC
5g.112843193T>GCA446211078APCc.7653T>G (p.Ser2551=)
c.*7605T>G (n.*7605T>G)
c.7545T>G (p.Ser2515=)
c.7599T>G (p.Ser2533=)
c.231-13456T>G
c.7629T>G (p.Ser2543=)
c.7524T>G (p.Ser2508=)
c.7515T>G (p.Ser2505=)
c.7476T>G (p.Ser2492=)
c.7422T>G (p.Ser2474=)
c.7326T>G (p.Ser2442=)
c.7296T>G (p.Ser2432=)
c.7221T>G (p.Ser2407=)
c.7119T>G (p.Ser2373=)
c.6750T>G (p.Ser2250=)
dbSNP
5g.112843193T=CA1573472338APCc.7653T= (p.Ser2551=)
c.*7605T= (n.*7605T=)
c.7545T= (p.Ser2515=)
c.7599T= (p.Ser2533=)
c.231-13456T=
c.7629T= (p.Ser2543=)
c.7524T= (p.Ser2508=)
c.7515T= (p.Ser2505=)
c.7476T= (p.Ser2492=)
c.7422T= (p.Ser2474=)
c.7326T= (p.Ser2442=)
c.7296T= (p.Ser2432=)
c.7221T= (p.Ser2407=)
c.7119T= (p.Ser2373=)
c.6750T= (p.Ser2250=)
5g.112843194G>ACA16037839APCc.7654G>A (p.Glu2552Lys)
c.*7606G>A (n.*7606G>A)
c.7546G>A (p.Glu2516Lys)
c.7600G>A (p.Glu2534Lys)
c.231-13455G>A
c.7630G>A (p.Glu2544Lys)
c.7525G>A (p.Glu2509Lys)
c.7516G>A (p.Glu2506Lys)
c.7477G>A (p.Glu2493Lys)
c.7423G>A (p.Glu2475Lys)
c.7327G>A (p.Glu2443Lys)
c.7297G>A (p.Glu2433Lys)
c.7222G>A (p.Glu2408Lys)
c.7120G>A (p.Glu2374Lys)
c.6751G>A (p.Glu2251Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843194G>CCA16037840APCc.7654G>C (p.Glu2552Gln)
c.*7606G>C (n.*7606G>C)
c.7546G>C (p.Glu2516Gln)
c.7600G>C (p.Glu2534Gln)
c.231-13455G>C
c.7630G>C (p.Glu2544Gln)
c.7525G>C (p.Glu2509Gln)
c.7516G>C (p.Glu2506Gln)
c.7477G>C (p.Glu2493Gln)
c.7423G>C (p.Glu2475Gln)
c.7327G>C (p.Glu2443Gln)
c.7297G>C (p.Glu2433Gln)
c.7222G>C (p.Glu2408Gln)
c.7120G>C (p.Glu2374Gln)
c.6751G>C (p.Glu2251Gln)
ClinVar dbSNP
5g.112843194G=CA1573472347APCc.7654G= (p.Glu2552=)
c.*7606G= (n.*7606G=)
c.7546G= (p.Glu2516=)
c.7600G= (p.Glu2534=)
c.231-13455G=
c.7630G= (p.Glu2544=)
c.7525G= (p.Glu2509=)
c.7516G= (p.Glu2506=)
c.7477G= (p.Glu2493=)
c.7423G= (p.Glu2475=)
c.7327G= (p.Glu2443=)
c.7297G= (p.Glu2433=)
c.7222G= (p.Glu2408=)
c.7120G= (p.Glu2374=)
c.6751G= (p.Glu2251=)
5g.112843194G>TCA16037841APCc.7654G>T (p.Glu2552Ter)
c.*7606G>T (n.*7606G>T)
c.7546G>T (p.Glu2516Ter)
c.7600G>T (p.Glu2534Ter)
c.231-13455G>T
c.7630G>T (p.Glu2544Ter)
c.7525G>T (p.Glu2509Ter)
c.7516G>T (p.Glu2506Ter)
c.7477G>T (p.Glu2493Ter)
c.7423G>T (p.Glu2475Ter)
c.7327G>T (p.Glu2443Ter)
c.7297G>T (p.Glu2433Ter)
c.7222G>T (p.Glu2408Ter)
c.7120G>T (p.Glu2374Ter)
c.6751G>T (p.Glu2251Ter)
dbSNP
5g.112843195A>CCA16037842APCc.7655A>C (p.Glu2552Ala)
c.*7607A>C (n.*7607A>C)
c.7547A>C (p.Glu2516Ala)
c.7601A>C (p.Glu2534Ala)
c.231-13454A>C
c.7631A>C (p.Glu2544Ala)
c.7526A>C (p.Glu2509Ala)
c.7517A>C (p.Glu2506Ala)
c.7478A>C (p.Glu2493Ala)
c.7424A>C (p.Glu2475Ala)
c.7328A>C (p.Glu2443Ala)
c.7298A>C (p.Glu2433Ala)
c.7223A>C (p.Glu2408Ala)
c.7121A>C (p.Glu2374Ala)
c.6752A>C (p.Glu2251Ala)
5g.112843195A>GCA16037843APCc.7655A>G (p.Glu2552Gly)
c.*7607A>G (n.*7607A>G)
c.7547A>G (p.Glu2516Gly)
c.7601A>G (p.Glu2534Gly)
c.231-13454A>G
c.7631A>G (p.Glu2544Gly)
c.7526A>G (p.Glu2509Gly)
c.7517A>G (p.Glu2506Gly)
c.7478A>G (p.Glu2493Gly)
c.7424A>G (p.Glu2475Gly)
c.7328A>G (p.Glu2443Gly)
c.7298A>G (p.Glu2433Gly)
c.7223A>G (p.Glu2408Gly)
c.7121A>G (p.Glu2374Gly)
c.6752A>G (p.Glu2251Gly)
dbSNP
5g.112843195A>TCA16037844APCc.7655A>T (p.Glu2552Val)
c.*7607A>T (n.*7607A>T)
c.7547A>T (p.Glu2516Val)
c.7601A>T (p.Glu2534Val)
c.231-13454A>T
c.7631A>T (p.Glu2544Val)
c.7526A>T (p.Glu2509Val)
c.7517A>T (p.Glu2506Val)
c.7478A>T (p.Glu2493Val)
c.7424A>T (p.Glu2475Val)
c.7328A>T (p.Glu2443Val)
c.7298A>T (p.Glu2433Val)
c.7223A>T (p.Glu2408Val)
c.7121A>T (p.Glu2374Val)
c.6752A>T (p.Glu2251Val)
dbSNP gnomAD v4
5g.112843196A=CA1573472356APCc.7656A= (p.Glu2552=)
c.*7608A= (n.*7608A=)
c.7548A= (p.Glu2516=)
c.7602A= (p.Glu2534=)
c.231-13453A=
c.7632A= (p.Glu2544=)
c.7527A= (p.Glu2509=)
c.7518A= (p.Glu2506=)
c.7479A= (p.Glu2493=)
c.7425A= (p.Glu2475=)
c.7329A= (p.Glu2443=)
c.7299A= (p.Glu2433=)
c.7224A= (p.Glu2408=)
c.7122A= (p.Glu2374=)
c.6753A= (p.Glu2251=)
5g.112843196A>CCA16037845APCc.7656A>C (p.Glu2552Asp)
c.*7608A>C (n.*7608A>C)
c.7548A>C (p.Glu2516Asp)
c.7602A>C (p.Glu2534Asp)
c.231-13453A>C
c.7632A>C (p.Glu2544Asp)
c.7527A>C (p.Glu2509Asp)
c.7518A>C (p.Glu2506Asp)
c.7479A>C (p.Glu2493Asp)
c.7425A>C (p.Glu2475Asp)
c.7329A>C (p.Glu2443Asp)
c.7299A>C (p.Glu2433Asp)
c.7224A>C (p.Glu2408Asp)
c.7122A>C (p.Glu2374Asp)
c.6753A>C (p.Glu2251Asp)
dbSNP
5g.112843196A>GCA446211079APCc.7656A>G (p.Glu2552=)
c.*7608A>G (n.*7608A>G)
c.7548A>G (p.Glu2516=)
c.7602A>G (p.Glu2534=)
c.231-13453A>G
c.7632A>G (p.Glu2544=)
c.7527A>G (p.Glu2509=)
c.7518A>G (p.Glu2506=)
c.7479A>G (p.Glu2493=)
c.7425A>G (p.Glu2475=)
c.7329A>G (p.Glu2443=)
c.7299A>G (p.Glu2433=)
c.7224A>G (p.Glu2408=)
c.7122A>G (p.Glu2374=)
c.6753A>G (p.Glu2251=)
ClinVar dbSNP
5g.112843196A>TCA16037846APCc.7656A>T (p.Glu2552Asp)
c.*7608A>T (n.*7608A>T)
c.7548A>T (p.Glu2516Asp)
c.7602A>T (p.Glu2534Asp)
c.231-13453A>T
c.7632A>T (p.Glu2544Asp)
c.7527A>T (p.Glu2509Asp)
c.7518A>T (p.Glu2506Asp)
c.7479A>T (p.Glu2493Asp)
c.7425A>T (p.Glu2475Asp)
c.7329A>T (p.Glu2443Asp)
c.7299A>T (p.Glu2433Asp)
c.7224A>T (p.Glu2408Asp)
c.7122A>T (p.Glu2374Asp)
c.6753A>T (p.Glu2251Asp)
dbSNP
5g.112843197A=CA1573472362APCc.7657A= (p.Ser2553=)
c.*7609A= (n.*7609A=)
c.7549A= (p.Ser2517=)
c.7603A= (p.Ser2535=)
c.231-13452A=
c.7633A= (p.Ser2545=)
c.7528A= (p.Ser2510=)
c.7519A= (p.Ser2507=)
c.7480A= (p.Ser2494=)
c.7426A= (p.Ser2476=)
c.7330A= (p.Ser2444=)
c.7300A= (p.Ser2434=)
c.7225A= (p.Ser2409=)
c.7123A= (p.Ser2375=)
c.6754A= (p.Ser2252=)
5g.112843197A>CCA16037847APCc.7657A>C (p.Ser2553Arg)
c.*7609A>C (n.*7609A>C)
c.7549A>C (p.Ser2517Arg)
c.7603A>C (p.Ser2535Arg)
c.231-13452A>C
c.7633A>C (p.Ser2545Arg)
c.7528A>C (p.Ser2510Arg)
c.7519A>C (p.Ser2507Arg)
c.7480A>C (p.Ser2494Arg)
c.7426A>C (p.Ser2476Arg)
c.7330A>C (p.Ser2444Arg)
c.7300A>C (p.Ser2434Arg)
c.7225A>C (p.Ser2409Arg)
c.7123A>C (p.Ser2375Arg)
c.6754A>C (p.Ser2252Arg)
5g.112843197A>GCA16037848APCc.7657A>G (p.Ser2553Gly)
c.*7609A>G (n.*7609A>G)
c.7549A>G (p.Ser2517Gly)
c.7603A>G (p.Ser2535Gly)
c.231-13452A>G
c.7633A>G (p.Ser2545Gly)
c.7528A>G (p.Ser2510Gly)
c.7519A>G (p.Ser2507Gly)
c.7480A>G (p.Ser2494Gly)
c.7426A>G (p.Ser2476Gly)
c.7330A>G (p.Ser2444Gly)
c.7300A>G (p.Ser2434Gly)
c.7225A>G (p.Ser2409Gly)
c.7123A>G (p.Ser2375Gly)
c.6754A>G (p.Ser2252Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843197A>TCA16037849APCc.7657A>T (p.Ser2553Cys)
c.*7609A>T (n.*7609A>T)
c.7549A>T (p.Ser2517Cys)
c.7603A>T (p.Ser2535Cys)
c.231-13452A>T
c.7633A>T (p.Ser2545Cys)
c.7528A>T (p.Ser2510Cys)
c.7519A>T (p.Ser2507Cys)
c.7480A>T (p.Ser2494Cys)
c.7426A>T (p.Ser2476Cys)
c.7330A>T (p.Ser2444Cys)
c.7300A>T (p.Ser2434Cys)
c.7225A>T (p.Ser2409Cys)
c.7123A>T (p.Ser2375Cys)
c.6754A>T (p.Ser2252Cys)
dbSNP
5g.112843198G>ACA16037850APCc.7658G>A (p.Ser2553Asn)
c.*7610G>A (n.*7610G>A)
c.7550G>A (p.Ser2517Asn)
c.7604G>A (p.Ser2535Asn)
c.231-13451G>A
c.7634G>A (p.Ser2545Asn)
c.7529G>A (p.Ser2510Asn)
c.7520G>A (p.Ser2507Asn)
c.7481G>A (p.Ser2494Asn)
c.7427G>A (p.Ser2476Asn)
c.7331G>A (p.Ser2444Asn)
c.7301G>A (p.Ser2434Asn)
c.7226G>A (p.Ser2409Asn)
c.7124G>A (p.Ser2375Asn)
c.6755G>A (p.Ser2252Asn)
ClinVar dbSNP
5g.112843198G>CCA16037851APCc.7658G>C (p.Ser2553Thr)
c.*7610G>C (n.*7610G>C)
c.7550G>C (p.Ser2517Thr)
c.7604G>C (p.Ser2535Thr)
c.231-13451G>C
c.7634G>C (p.Ser2545Thr)
c.7529G>C (p.Ser2510Thr)
c.7520G>C (p.Ser2507Thr)
c.7481G>C (p.Ser2494Thr)
c.7427G>C (p.Ser2476Thr)
c.7331G>C (p.Ser2444Thr)
c.7301G>C (p.Ser2434Thr)
c.7226G>C (p.Ser2409Thr)
c.7124G>C (p.Ser2375Thr)
c.6755G>C (p.Ser2252Thr)
dbSNP
5g.112843198G=CA1573472374APCc.7658G= (p.Ser2553=)
c.*7610G= (n.*7610G=)
c.7550G= (p.Ser2517=)
c.7604G= (p.Ser2535=)
c.231-13451G=
c.7634G= (p.Ser2545=)
c.7529G= (p.Ser2510=)
c.7520G= (p.Ser2507=)
c.7481G= (p.Ser2494=)
c.7427G= (p.Ser2476=)
c.7331G= (p.Ser2444=)
c.7301G= (p.Ser2434=)
c.7226G= (p.Ser2409=)
c.7124G= (p.Ser2375=)
c.6755G= (p.Ser2252=)
5g.112843198G>TCA16037852APCc.7658G>T (p.Ser2553Ile)
c.*7610G>T (n.*7610G>T)
c.7550G>T (p.Ser2517Ile)
c.7604G>T (p.Ser2535Ile)
c.231-13451G>T
c.7634G>T (p.Ser2545Ile)
c.7529G>T (p.Ser2510Ile)
c.7520G>T (p.Ser2507Ile)
c.7481G>T (p.Ser2494Ile)
c.7427G>T (p.Ser2476Ile)
c.7331G>T (p.Ser2444Ile)
c.7301G>T (p.Ser2434Ile)
c.7226G>T (p.Ser2409Ile)
c.7124G>T (p.Ser2375Ile)
c.6755G>T (p.Ser2252Ile)
ClinVar dbSNP

Number of alleles fetched