Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843007A>CCA446210587APCc.7467A>C (p.Pro2489=)
c.*7419A>C (n.*7419A>C)
c.7359A>C (p.Pro2453=)
c.7413A>C (p.Pro2471=)
c.231-13642A>C
c.7443A>C (p.Pro2481=)
c.7338A>C (p.Pro2446=)
c.7329A>C (p.Pro2443=)
c.7290A>C (p.Pro2430=)
c.7236A>C (p.Pro2412=)
c.7140A>C (p.Pro2380=)
c.7110A>C (p.Pro2370=)
c.7035A>C (p.Pro2345=)
c.6933A>C (p.Pro2311=)
c.6564A>C (p.Pro2188=)
dbSNP
5g.112843007A>GCA446210588APCc.7467A>G (p.Pro2489=)
c.*7419A>G (n.*7419A>G)
c.7359A>G (p.Pro2453=)
c.7413A>G (p.Pro2471=)
c.231-13642A>G
c.7443A>G (p.Pro2481=)
c.7338A>G (p.Pro2446=)
c.7329A>G (p.Pro2443=)
c.7290A>G (p.Pro2430=)
c.7236A>G (p.Pro2412=)
c.7140A>G (p.Pro2380=)
c.7110A>G (p.Pro2370=)
c.7035A>G (p.Pro2345=)
c.6933A>G (p.Pro2311=)
c.6564A>G (p.Pro2188=)
5g.112843007A>TCA446210590APCc.7467A>T (p.Pro2489=)
c.*7419A>T (n.*7419A>T)
c.7359A>T (p.Pro2453=)
c.7413A>T (p.Pro2471=)
c.231-13642A>T
c.7443A>T (p.Pro2481=)
c.7338A>T (p.Pro2446=)
c.7329A>T (p.Pro2443=)
c.7290A>T (p.Pro2430=)
c.7236A>T (p.Pro2412=)
c.7140A>T (p.Pro2380=)
c.7110A>T (p.Pro2370=)
c.7035A>T (p.Pro2345=)
c.6933A>T (p.Pro2311=)
c.6564A>T (p.Pro2188=)
dbSNP
5g.112843008G>ACA16037467APCc.7468G>A (p.Ala2490Thr)
c.*7420G>A (n.*7420G>A)
c.7360G>A (p.Ala2454Thr)
c.7414G>A (p.Ala2472Thr)
c.231-13641G>A
c.7444G>A (p.Ala2482Thr)
c.7339G>A (p.Ala2447Thr)
c.7330G>A (p.Ala2444Thr)
c.7291G>A (p.Ala2431Thr)
c.7237G>A (p.Ala2413Thr)
c.7141G>A (p.Ala2381Thr)
c.7111G>A (p.Ala2371Thr)
c.7036G>A (p.Ala2346Thr)
c.6934G>A (p.Ala2312Thr)
c.6565G>A (p.Ala2189Thr)
ClinVar dbSNP gnomAD v4
5g.112843008G>CCA16037468APCc.7468G>C (p.Ala2490Pro)
c.*7420G>C (n.*7420G>C)
c.7360G>C (p.Ala2454Pro)
c.7414G>C (p.Ala2472Pro)
c.231-13641G>C
c.7444G>C (p.Ala2482Pro)
c.7339G>C (p.Ala2447Pro)
c.7330G>C (p.Ala2444Pro)
c.7291G>C (p.Ala2431Pro)
c.7237G>C (p.Ala2413Pro)
c.7141G>C (p.Ala2381Pro)
c.7111G>C (p.Ala2371Pro)
c.7036G>C (p.Ala2346Pro)
c.6934G>C (p.Ala2312Pro)
c.6565G>C (p.Ala2189Pro)
dbSNP gnomAD v4
5g.112843008G=CA1573470449APCc.7468G= (p.Ala2490=)
c.*7420G= (n.*7420G=)
c.7360G= (p.Ala2454=)
c.7414G= (p.Ala2472=)
c.231-13641G=
c.7444G= (p.Ala2482=)
c.7339G= (p.Ala2447=)
c.7330G= (p.Ala2444=)
c.7291G= (p.Ala2431=)
c.7237G= (p.Ala2413=)
c.7141G= (p.Ala2381=)
c.7111G= (p.Ala2371=)
c.7036G= (p.Ala2346=)
c.6934G= (p.Ala2312=)
c.6565G= (p.Ala2189=)
5g.112843008G>TCA16037469APCc.7468G>T (p.Ala2490Ser)
c.*7420G>T (n.*7420G>T)
c.7360G>T (p.Ala2454Ser)
c.7414G>T (p.Ala2472Ser)
c.231-13641G>T
c.7444G>T (p.Ala2482Ser)
c.7339G>T (p.Ala2447Ser)
c.7330G>T (p.Ala2444Ser)
c.7291G>T (p.Ala2431Ser)
c.7237G>T (p.Ala2413Ser)
c.7141G>T (p.Ala2381Ser)
c.7111G>T (p.Ala2371Ser)
c.7036G>T (p.Ala2346Ser)
c.6934G>T (p.Ala2312Ser)
c.6565G>T (p.Ala2189Ser)
dbSNP
5g.112843009C>ACA16037470APCc.7469C>A (p.Ala2490Asp)
c.*7421C>A (n.*7421C>A)
c.7361C>A (p.Ala2454Asp)
c.7415C>A (p.Ala2472Asp)
c.231-13640C>A
c.7445C>A (p.Ala2482Asp)
c.7340C>A (p.Ala2447Asp)
c.7331C>A (p.Ala2444Asp)
c.7292C>A (p.Ala2431Asp)
c.7238C>A (p.Ala2413Asp)
c.7142C>A (p.Ala2381Asp)
c.7112C>A (p.Ala2371Asp)
c.7037C>A (p.Ala2346Asp)
c.6935C>A (p.Ala2312Asp)
c.6566C>A (p.Ala2189Asp)
dbSNP
5g.112843009C=CA1573470459APCc.7469C= (p.Ala2490=)
c.*7421C= (n.*7421C=)
c.7361C= (p.Ala2454=)
c.7415C= (p.Ala2472=)
c.231-13640C=
c.7445C= (p.Ala2482=)
c.7340C= (p.Ala2447=)
c.7331C= (p.Ala2444=)
c.7292C= (p.Ala2431=)
c.7238C= (p.Ala2413=)
c.7142C= (p.Ala2381=)
c.7112C= (p.Ala2371=)
c.7037C= (p.Ala2346=)
c.6935C= (p.Ala2312=)
c.6566C= (p.Ala2189=)
5g.112843009C>GCA16037471APCc.7469C>G (p.Ala2490Gly)
c.*7421C>G (n.*7421C>G)
c.7361C>G (p.Ala2454Gly)
c.7415C>G (p.Ala2472Gly)
c.231-13640C>G
c.7445C>G (p.Ala2482Gly)
c.7340C>G (p.Ala2447Gly)
c.7331C>G (p.Ala2444Gly)
c.7292C>G (p.Ala2431Gly)
c.7238C>G (p.Ala2413Gly)
c.7142C>G (p.Ala2381Gly)
c.7112C>G (p.Ala2371Gly)
c.7037C>G (p.Ala2346Gly)
c.6935C>G (p.Ala2312Gly)
c.6566C>G (p.Ala2189Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843009C>TCA013674APCc.7469C>T (p.Ala2490Val)
c.*7421C>T (n.*7421C>T)
c.7361C>T (p.Ala2454Val)
c.7415C>T (p.Ala2472Val)
c.231-13640C>T
c.7445C>T (p.Ala2482Val)
c.7340C>T (p.Ala2447Val)
c.7331C>T (p.Ala2444Val)
c.7292C>T (p.Ala2431Val)
c.7238C>T (p.Ala2413Val)
c.7142C>T (p.Ala2381Val)
c.7112C>T (p.Ala2371Val)
c.7037C>T (p.Ala2346Val)
c.6935C>T (p.Ala2312Val)
c.6566C>T (p.Ala2189Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843010T>ACA446210599APCc.7470T>A (p.Ala2490=)
c.*7422T>A (n.*7422T>A)
c.7362T>A (p.Ala2454=)
c.7416T>A (p.Ala2472=)
c.231-13639T>A
c.7446T>A (p.Ala2482=)
c.7341T>A (p.Ala2447=)
c.7332T>A (p.Ala2444=)
c.7293T>A (p.Ala2431=)
c.7239T>A (p.Ala2413=)
c.7143T>A (p.Ala2381=)
c.7113T>A (p.Ala2371=)
c.7038T>A (p.Ala2346=)
c.6936T>A (p.Ala2312=)
c.6567T>A (p.Ala2189=)
dbSNP
5g.112843010T>CCA446210601APCc.7470T>C (p.Ala2490=)
c.*7422T>C (n.*7422T>C)
c.7362T>C (p.Ala2454=)
c.7416T>C (p.Ala2472=)
c.231-13639T>C
c.7446T>C (p.Ala2482=)
c.7341T>C (p.Ala2447=)
c.7332T>C (p.Ala2444=)
c.7293T>C (p.Ala2431=)
c.7239T>C (p.Ala2413=)
c.7143T>C (p.Ala2381=)
c.7113T>C (p.Ala2371=)
c.7038T>C (p.Ala2346=)
c.6936T>C (p.Ala2312=)
c.6567T>C (p.Ala2189=)
dbSNP
5g.112843010T>GCA446210603APCc.7470T>G (p.Ala2490=)
c.*7422T>G (n.*7422T>G)
c.7362T>G (p.Ala2454=)
c.7416T>G (p.Ala2472=)
c.231-13639T>G
c.7446T>G (p.Ala2482=)
c.7341T>G (p.Ala2447=)
c.7332T>G (p.Ala2444=)
c.7293T>G (p.Ala2431=)
c.7239T>G (p.Ala2413=)
c.7143T>G (p.Ala2381=)
c.7113T>G (p.Ala2371=)
c.7038T>G (p.Ala2346=)
c.6936T>G (p.Ala2312=)
c.6567T>G (p.Ala2189=)
ClinVar dbSNP
5g.112843011T>ACA16037472APCc.7471T>A (p.Ser2491Thr)
c.*7423T>A (n.*7423T>A)
c.7363T>A (p.Ser2455Thr)
c.7417T>A (p.Ser2473Thr)
c.231-13638T>A
c.7447T>A (p.Ser2483Thr)
c.7342T>A (p.Ser2448Thr)
c.7333T>A (p.Ser2445Thr)
c.7294T>A (p.Ser2432Thr)
c.7240T>A (p.Ser2414Thr)
c.7144T>A (p.Ser2382Thr)
c.7114T>A (p.Ser2372Thr)
c.7039T>A (p.Ser2347Thr)
c.6937T>A (p.Ser2313Thr)
c.6568T>A (p.Ser2190Thr)
dbSNP
5g.112843011T>CCA16037473APCc.7471T>C (p.Ser2491Pro)
c.*7423T>C (n.*7423T>C)
c.7363T>C (p.Ser2455Pro)
c.7417T>C (p.Ser2473Pro)
c.231-13638T>C
c.7447T>C (p.Ser2483Pro)
c.7342T>C (p.Ser2448Pro)
c.7333T>C (p.Ser2445Pro)
c.7294T>C (p.Ser2432Pro)
c.7240T>C (p.Ser2414Pro)
c.7144T>C (p.Ser2382Pro)
c.7114T>C (p.Ser2372Pro)
c.7039T>C (p.Ser2347Pro)
c.6937T>C (p.Ser2313Pro)
c.6568T>C (p.Ser2190Pro)
dbSNP
5g.112843011T>GCA16037474APCc.7471T>G (p.Ser2491Ala)
c.*7423T>G (n.*7423T>G)
c.7363T>G (p.Ser2455Ala)
c.7417T>G (p.Ser2473Ala)
c.231-13638T>G
c.7447T>G (p.Ser2483Ala)
c.7342T>G (p.Ser2448Ala)
c.7333T>G (p.Ser2445Ala)
c.7294T>G (p.Ser2432Ala)
c.7240T>G (p.Ser2414Ala)
c.7144T>G (p.Ser2382Ala)
c.7114T>G (p.Ser2372Ala)
c.7039T>G (p.Ser2347Ala)
c.6937T>G (p.Ser2313Ala)
c.6568T>G (p.Ser2190Ala)
5g.112843012C>ACA16037475APCc.7472C>A (p.Ser2491Tyr)
c.*7424C>A (n.*7424C>A)
c.7364C>A (p.Ser2455Tyr)
c.7418C>A (p.Ser2473Tyr)
c.231-13637C>A
c.7448C>A (p.Ser2483Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7334C>A (p.Ser2445Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7241C>A (p.Ser2414Tyr)
c.7145C>A (p.Ser2382Tyr)
c.7115C>A (p.Ser2372Tyr)
c.7040C>A (p.Ser2347Tyr)
c.6938C>A (p.Ser2313Tyr)
c.6569C>A (p.Ser2190Tyr)
5g.112843012C=CA1573470538APCc.7472C= (p.Ser2491=)
c.*7424C= (n.*7424C=)
c.7364C= (p.Ser2455=)
c.7418C= (p.Ser2473=)
c.231-13637C=
c.7448C= (p.Ser2483=)
c.7343C= (p.Ser2448=)
c.7334C= (p.Ser2445=)
c.7295C= (p.Ser2432=)
c.7241C= (p.Ser2414=)
c.7145C= (p.Ser2382=)
c.7115C= (p.Ser2372=)
c.7040C= (p.Ser2347=)
c.6938C= (p.Ser2313=)
c.6569C= (p.Ser2190=)
5g.112843012C>GCA16037476APCc.7472C>G (p.Ser2491Cys)
c.*7424C>G (n.*7424C>G)
c.7364C>G (p.Ser2455Cys)
c.7418C>G (p.Ser2473Cys)
c.231-13637C>G
c.7448C>G (p.Ser2483Cys)
c.7343C>G (p.Ser2448Cys)
c.7334C>G (p.Ser2445Cys)
c.7295C>G (p.Ser2432Cys)
c.7241C>G (p.Ser2414Cys)
c.7145C>G (p.Ser2382Cys)
c.7115C>G (p.Ser2372Cys)
c.7040C>G (p.Ser2347Cys)
c.6938C>G (p.Ser2313Cys)
c.6569C>G (p.Ser2190Cys)
ClinVar dbSNP gnomAD v4
5g.112843012C>TCA16037477APCc.7472C>T (p.Ser2491Phe)
c.*7424C>T (n.*7424C>T)
c.7364C>T (p.Ser2455Phe)
c.7418C>T (p.Ser2473Phe)
c.231-13637C>T
c.7448C>T (p.Ser2483Phe)
c.7343C>T (p.Ser2448Phe)
c.7334C>T (p.Ser2445Phe)
c.7295C>T (p.Ser2432Phe)
c.7241C>T (p.Ser2414Phe)
c.7145C>T (p.Ser2382Phe)
c.7115C>T (p.Ser2372Phe)
c.7040C>T (p.Ser2347Phe)
c.6938C>T (p.Ser2313Phe)
c.6569C>T (p.Ser2190Phe)
ClinVar dbSNP
5g.112843013T>ACA125167819APCc.7473T>A (p.Ser2491=)
c.*7425T>A (n.*7425T>A)
c.7365T>A (p.Ser2455=)
c.7419T>A (p.Ser2473=)
c.231-13636T>A
c.7449T>A (p.Ser2483=)
c.7344T>A (p.Ser2448=)
c.7335T>A (p.Ser2445=)
c.7296T>A (p.Ser2432=)
c.7242T>A (p.Ser2414=)
c.7146T>A (p.Ser2382=)
c.7116T>A (p.Ser2372=)
c.7041T>A (p.Ser2347=)
c.6939T>A (p.Ser2313=)
c.6570T>A (p.Ser2190=)
ClinVar dbSNP gnomAD v4
5g.112843013T>CCA446210608APCc.7473T>C (p.Ser2491=)
c.*7425T>C (n.*7425T>C)
c.7365T>C (p.Ser2455=)
c.7419T>C (p.Ser2473=)
c.231-13636T>C
c.7449T>C (p.Ser2483=)
c.7344T>C (p.Ser2448=)
c.7335T>C (p.Ser2445=)
c.7296T>C (p.Ser2432=)
c.7242T>C (p.Ser2414=)
c.7146T>C (p.Ser2382=)
c.7116T>C (p.Ser2372=)
c.7041T>C (p.Ser2347=)
c.6939T>C (p.Ser2313=)
c.6570T>C (p.Ser2190=)
gnomAD v4
5g.112843013T>GCA446210607APCc.7473T>G (p.Ser2491=)
c.*7425T>G (n.*7425T>G)
c.7365T>G (p.Ser2455=)
c.7419T>G (p.Ser2473=)
c.231-13636T>G
c.7449T>G (p.Ser2483=)
c.7344T>G (p.Ser2448=)
c.7335T>G (p.Ser2445=)
c.7296T>G (p.Ser2432=)
c.7242T>G (p.Ser2414=)
c.7146T>G (p.Ser2382=)
c.7116T>G (p.Ser2372=)
c.7041T>G (p.Ser2347=)
c.6939T>G (p.Ser2313=)
c.6570T>G (p.Ser2190=)
5g.112843013T=CA1573470549APCc.7473T= (p.Ser2491=)
c.*7425T= (n.*7425T=)
c.7365T= (p.Ser2455=)
c.7419T= (p.Ser2473=)
c.231-13636T=
c.7449T= (p.Ser2483=)
c.7344T= (p.Ser2448=)
c.7335T= (p.Ser2445=)
c.7296T= (p.Ser2432=)
c.7242T= (p.Ser2414=)
c.7146T= (p.Ser2382=)
c.7116T= (p.Ser2372=)
c.7041T= (p.Ser2347=)
c.6939T= (p.Ser2313=)
c.6570T= (p.Ser2190=)
5g.112843014C>ACA16037478APCc.7474C>A (p.Pro2492Thr)
c.*7426C>A (n.*7426C>A)
c.7366C>A (p.Pro2456Thr)
c.7420C>A (p.Pro2474Thr)
c.231-13635C>A
c.7450C>A (p.Pro2484Thr)
c.7345C>A (p.Pro2449Thr)
c.7336C>A (p.Pro2446Thr)
c.7297C>A (p.Pro2433Thr)
c.7243C>A (p.Pro2415Thr)
c.7147C>A (p.Pro2383Thr)
c.7117C>A (p.Pro2373Thr)
c.7042C>A (p.Pro2348Thr)
c.6940C>A (p.Pro2314Thr)
c.6571C>A (p.Pro2191Thr)
dbSNP
5g.112843014C>GCA16037479APCc.7474C>G (p.Pro2492Ala)
c.*7426C>G (n.*7426C>G)
c.7366C>G (p.Pro2456Ala)
c.7420C>G (p.Pro2474Ala)
c.231-13635C>G
c.7450C>G (p.Pro2484Ala)
c.7345C>G (p.Pro2449Ala)
c.7336C>G (p.Pro2446Ala)
c.7297C>G (p.Pro2433Ala)
c.7243C>G (p.Pro2415Ala)
c.7147C>G (p.Pro2383Ala)
c.7117C>G (p.Pro2373Ala)
c.7042C>G (p.Pro2348Ala)
c.6940C>G (p.Pro2314Ala)
c.6571C>G (p.Pro2191Ala)
dbSNP
5g.112843014C>TCA16037480APCc.7474C>T (p.Pro2492Ser)
c.*7426C>T (n.*7426C>T)
c.7366C>T (p.Pro2456Ser)
c.7420C>T (p.Pro2474Ser)
c.231-13635C>T
c.7450C>T (p.Pro2484Ser)
c.7345C>T (p.Pro2449Ser)
c.7336C>T (p.Pro2446Ser)
c.7297C>T (p.Pro2433Ser)
c.7243C>T (p.Pro2415Ser)
c.7147C>T (p.Pro2383Ser)
c.7117C>T (p.Pro2373Ser)
c.7042C>T (p.Pro2348Ser)
c.6940C>T (p.Pro2314Ser)
c.6571C>T (p.Pro2191Ser)
dbSNP
5g.112843015C>ACA16037481APCc.7475C>A (p.Pro2492His)
c.*7427C>A (n.*7427C>A)
c.7367C>A (p.Pro2456His)
c.7421C>A (p.Pro2474His)
c.231-13634C>A
c.7451C>A (p.Pro2484His)
c.7346C>A (p.Pro2449His)
c.7337C>A (p.Pro2446His)
c.7298C>A (p.Pro2433His)
c.7244C>A (p.Pro2415His)
c.7148C>A (p.Pro2383His)
c.7118C>A (p.Pro2373His)
c.7043C>A (p.Pro2348His)
c.6941C>A (p.Pro2314His)
c.6572C>A (p.Pro2191His)
dbSNP
5g.112843015C>GCA16037482APCc.7475C>G (p.Pro2492Arg)
c.*7427C>G (n.*7427C>G)
c.7367C>G (p.Pro2456Arg)
c.7421C>G (p.Pro2474Arg)
c.231-13634C>G
c.7451C>G (p.Pro2484Arg)
c.7346C>G (p.Pro2449Arg)
c.7337C>G (p.Pro2446Arg)
c.7298C>G (p.Pro2433Arg)
c.7244C>G (p.Pro2415Arg)
c.7148C>G (p.Pro2383Arg)
c.7118C>G (p.Pro2373Arg)
c.7043C>G (p.Pro2348Arg)
c.6941C>G (p.Pro2314Arg)
c.6572C>G (p.Pro2191Arg)
dbSNP
5g.112843015C>TCA16037483APCc.7475C>T (p.Pro2492Leu)
c.*7427C>T (n.*7427C>T)
c.7367C>T (p.Pro2456Leu)
c.7421C>T (p.Pro2474Leu)
c.231-13634C>T
c.7451C>T (p.Pro2484Leu)
c.7346C>T (p.Pro2449Leu)
c.7337C>T (p.Pro2446Leu)
c.7298C>T (p.Pro2433Leu)
c.7244C>T (p.Pro2415Leu)
c.7148C>T (p.Pro2383Leu)
c.7118C>T (p.Pro2373Leu)
c.7043C>T (p.Pro2348Leu)
c.6941C>T (p.Pro2314Leu)
c.6572C>T (p.Pro2191Leu)
dbSNP
5g.112843016C>ACA446210617APCc.7476C>A (p.Pro2492=)
c.*7428C>A (n.*7428C>A)
c.7368C>A (p.Pro2456=)
c.7422C>A (p.Pro2474=)
c.231-13633C>A
c.7452C>A (p.Pro2484=)
c.7347C>A (p.Pro2449=)
c.7338C>A (p.Pro2446=)
c.7299C>A (p.Pro2433=)
c.7245C>A (p.Pro2415=)
c.7149C>A (p.Pro2383=)
c.7119C>A (p.Pro2373=)
c.7044C>A (p.Pro2348=)
c.6942C>A (p.Pro2314=)
c.6573C>A (p.Pro2191=)
dbSNP
5g.112843016C>GCA446210616APCc.7476C>G (p.Pro2492=)
c.*7428C>G (n.*7428C>G)
c.7368C>G (p.Pro2456=)
c.7422C>G (p.Pro2474=)
c.231-13633C>G
c.7452C>G (p.Pro2484=)
c.7347C>G (p.Pro2449=)
c.7338C>G (p.Pro2446=)
c.7299C>G (p.Pro2433=)
c.7245C>G (p.Pro2415=)
c.7149C>G (p.Pro2383=)
c.7119C>G (p.Pro2373=)
c.7044C>G (p.Pro2348=)
c.6942C>G (p.Pro2314=)
c.6573C>G (p.Pro2191=)
dbSNP
5g.112843016C>TCA446210615APCc.7476C>T (p.Pro2492=)
c.*7428C>T (n.*7428C>T)
c.7368C>T (p.Pro2456=)
c.7422C>T (p.Pro2474=)
c.231-13633C>T
c.7452C>T (p.Pro2484=)
c.7347C>T (p.Pro2449=)
c.7338C>T (p.Pro2446=)
c.7299C>T (p.Pro2433=)
c.7245C>T (p.Pro2415=)
c.7149C>T (p.Pro2383=)
c.7119C>T (p.Pro2373=)
c.7044C>T (p.Pro2348=)
c.6942C>T (p.Pro2314=)
c.6573C>T (p.Pro2191=)
gnomAD v4
5g.112843017A=CA1573470564APCc.7477A= (p.Thr2493=)
c.*7429A= (n.*7429A=)
c.7369A= (p.Thr2457=)
c.7423A= (p.Thr2475=)
c.231-13632A=
c.7453A= (p.Thr2485=)
c.7348A= (p.Thr2450=)
c.7339A= (p.Thr2447=)
c.7300A= (p.Thr2434=)
c.7246A= (p.Thr2416=)
c.7150A= (p.Thr2384=)
c.7120A= (p.Thr2374=)
c.7045A= (p.Thr2349=)
c.6943A= (p.Thr2315=)
c.6574A= (p.Thr2192=)
5g.112843017A>CCA16037484APCc.7477A>C (p.Thr2493Pro)
c.*7429A>C (n.*7429A>C)
c.7369A>C (p.Thr2457Pro)
c.7423A>C (p.Thr2475Pro)
c.231-13632A>C
c.7453A>C (p.Thr2485Pro)
c.7348A>C (p.Thr2450Pro)
c.7339A>C (p.Thr2447Pro)
c.7300A>C (p.Thr2434Pro)
c.7246A>C (p.Thr2416Pro)
c.7150A>C (p.Thr2384Pro)
c.7120A>C (p.Thr2374Pro)
c.7045A>C (p.Thr2349Pro)
c.6943A>C (p.Thr2315Pro)
c.6574A>C (p.Thr2192Pro)
dbSNP
5g.112843017A>GCA16037485APCc.7477A>G (p.Thr2493Ala)
c.*7429A>G (n.*7429A>G)
c.7369A>G (p.Thr2457Ala)
c.7423A>G (p.Thr2475Ala)
c.231-13632A>G
c.7453A>G (p.Thr2485Ala)
c.7348A>G (p.Thr2450Ala)
c.7339A>G (p.Thr2447Ala)
c.7300A>G (p.Thr2434Ala)
c.7246A>G (p.Thr2416Ala)
c.7150A>G (p.Thr2384Ala)
c.7120A>G (p.Thr2374Ala)
c.7045A>G (p.Thr2349Ala)
c.6943A>G (p.Thr2315Ala)
c.6574A>G (p.Thr2192Ala)
dbSNP gnomAD v2 gnomAD v4
5g.112843017A>TCA16037486APCc.7477A>T (p.Thr2493Ser)
c.*7429A>T (n.*7429A>T)
c.7369A>T (p.Thr2457Ser)
c.7423A>T (p.Thr2475Ser)
c.231-13632A>T
c.7453A>T (p.Thr2485Ser)
c.7348A>T (p.Thr2450Ser)
c.7339A>T (p.Thr2447Ser)
c.7300A>T (p.Thr2434Ser)
c.7246A>T (p.Thr2416Ser)
c.7150A>T (p.Thr2384Ser)
c.7120A>T (p.Thr2374Ser)
c.7045A>T (p.Thr2349Ser)
c.6943A>T (p.Thr2315Ser)
c.6574A>T (p.Thr2192Ser)
dbSNP gnomAD v4
5g.112843018C>ACA16037487APCc.7478C>A (p.Thr2493Asn)
c.*7430C>A (n.*7430C>A)
c.7370C>A (p.Thr2457Asn)
c.7424C>A (p.Thr2475Asn)
c.231-13631C>A
c.7454C>A (p.Thr2485Asn)
c.7349C>A (p.Thr2450Asn)
c.7340C>A (p.Thr2447Asn)
c.7301C>A (p.Thr2434Asn)
c.7247C>A (p.Thr2416Asn)
c.7151C>A (p.Thr2384Asn)
c.7121C>A (p.Thr2374Asn)
c.7046C>A (p.Thr2349Asn)
c.6944C>A (p.Thr2315Asn)
c.6575C>A (p.Thr2192Asn)
dbSNP
5g.112843018C=CA1573470588APCc.7478C= (p.Thr2493=)
c.*7430C= (n.*7430C=)
c.7370C= (p.Thr2457=)
c.7424C= (p.Thr2475=)
c.231-13631C=
c.7454C= (p.Thr2485=)
c.7349C= (p.Thr2450=)
c.7340C= (p.Thr2447=)
c.7301C= (p.Thr2434=)
c.7247C= (p.Thr2416=)
c.7151C= (p.Thr2384=)
c.7121C= (p.Thr2374=)
c.7046C= (p.Thr2349=)
c.6944C= (p.Thr2315=)
c.6575C= (p.Thr2192=)
5g.112843018C>GCA16037488APCc.7478C>G (p.Thr2493Ser)
c.*7430C>G (n.*7430C>G)
c.7370C>G (p.Thr2457Ser)
c.7424C>G (p.Thr2475Ser)
c.231-13631C>G
c.7454C>G (p.Thr2485Ser)
c.7349C>G (p.Thr2450Ser)
c.7340C>G (p.Thr2447Ser)
c.7301C>G (p.Thr2434Ser)
c.7247C>G (p.Thr2416Ser)
c.7151C>G (p.Thr2384Ser)
c.7121C>G (p.Thr2374Ser)
c.7046C>G (p.Thr2349Ser)
c.6944C>G (p.Thr2315Ser)
c.6575C>G (p.Thr2192Ser)
ClinVar dbSNP
5g.112843018C>TCA16037489APCc.7478C>T (p.Thr2493Ile)
c.*7430C>T (n.*7430C>T)
c.7370C>T (p.Thr2457Ile)
c.7424C>T (p.Thr2475Ile)
c.231-13631C>T
c.7454C>T (p.Thr2485Ile)
c.7349C>T (p.Thr2450Ile)
c.7340C>T (p.Thr2447Ile)
c.7301C>T (p.Thr2434Ile)
c.7247C>T (p.Thr2416Ile)
c.7151C>T (p.Thr2384Ile)
c.7121C>T (p.Thr2374Ile)
c.7046C>T (p.Thr2349Ile)
c.6944C>T (p.Thr2315Ile)
c.6575C>T (p.Thr2192Ile)
ClinVar dbSNP
5g.112843019T>ACA446210625APCc.7479T>A (p.Thr2493=)
c.*7431T>A (n.*7431T>A)
c.7371T>A (p.Thr2457=)
c.7425T>A (p.Thr2475=)
c.231-13630T>A
c.7455T>A (p.Thr2485=)
c.7350T>A (p.Thr2450=)
c.7341T>A (p.Thr2447=)
c.7302T>A (p.Thr2434=)
c.7248T>A (p.Thr2416=)
c.7152T>A (p.Thr2384=)
c.7122T>A (p.Thr2374=)
c.7047T>A (p.Thr2349=)
c.6945T>A (p.Thr2315=)
c.6576T>A (p.Thr2192=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843019T>CCA446210633APCc.7479T>C (p.Thr2493=)
c.*7431T>C (n.*7431T>C)
c.7371T>C (p.Thr2457=)
c.7425T>C (p.Thr2475=)
c.231-13630T>C
c.7455T>C (p.Thr2485=)
c.7350T>C (p.Thr2450=)
c.7341T>C (p.Thr2447=)
c.7302T>C (p.Thr2434=)
c.7248T>C (p.Thr2416=)
c.7152T>C (p.Thr2384=)
c.7122T>C (p.Thr2374=)
c.7047T>C (p.Thr2349=)
c.6945T>C (p.Thr2315=)
c.6576T>C (p.Thr2192=)
ClinVar dbSNP gnomAD v4
5g.112843019T>GCA446210627APCc.7479T>G (p.Thr2493=)
c.*7431T>G (n.*7431T>G)
c.7371T>G (p.Thr2457=)
c.7425T>G (p.Thr2475=)
c.231-13630T>G
c.7455T>G (p.Thr2485=)
c.7350T>G (p.Thr2450=)
c.7341T>G (p.Thr2447=)
c.7302T>G (p.Thr2434=)
c.7248T>G (p.Thr2416=)
c.7152T>G (p.Thr2384=)
c.7122T>G (p.Thr2374=)
c.7047T>G (p.Thr2349=)
c.6945T>G (p.Thr2315=)
c.6576T>G (p.Thr2192=)
5g.112843019T=CA1573470605APCc.7479T= (p.Thr2493=)
c.*7431T= (n.*7431T=)
c.7371T= (p.Thr2457=)
c.7425T= (p.Thr2475=)
c.231-13630T=
c.7455T= (p.Thr2485=)
c.7350T= (p.Thr2450=)
c.7341T= (p.Thr2447=)
c.7302T= (p.Thr2434=)
c.7248T= (p.Thr2416=)
c.7152T= (p.Thr2384=)
c.7122T= (p.Thr2374=)
c.7047T= (p.Thr2349=)
c.6945T= (p.Thr2315=)
c.6576T= (p.Thr2192=)
5g.112843020A=CA1573470625APCc.7480A= (p.Arg2494=)
c.*7432A= (n.*7432A=)
c.7372A= (p.Arg2458=)
c.7426A= (p.Arg2476=)
c.231-13629A=
c.7456A= (p.Arg2486=)
c.7351A= (p.Arg2451=)
c.7342A= (p.Arg2448=)
c.7303A= (p.Arg2435=)
c.7249A= (p.Arg2417=)
c.7153A= (p.Arg2385=)
c.7123A= (p.Arg2375=)
c.7048A= (p.Arg2350=)
c.6946A= (p.Arg2316=)
c.6577A= (p.Arg2193=)
5g.112843020A>CCA446210636APCc.7480A>C (p.Arg2494=)
c.*7432A>C (n.*7432A>C)
c.7372A>C (p.Arg2458=)
c.7426A>C (p.Arg2476=)
c.231-13629A>C
c.7456A>C (p.Arg2486=)
c.7351A>C (p.Arg2451=)
c.7342A>C (p.Arg2448=)
c.7303A>C (p.Arg2435=)
c.7249A>C (p.Arg2417=)
c.7153A>C (p.Arg2385=)
c.7123A>C (p.Arg2375=)
c.7048A>C (p.Arg2350=)
c.6946A>C (p.Arg2316=)
c.6577A>C (p.Arg2193=)
5g.112843020A>GCA16037490APCc.7480A>G (p.Arg2494Gly)
c.*7432A>G (n.*7432A>G)
c.7372A>G (p.Arg2458Gly)
c.7426A>G (p.Arg2476Gly)
c.231-13629A>G
c.7456A>G (p.Arg2486Gly)
c.7351A>G (p.Arg2451Gly)
c.7342A>G (p.Arg2448Gly)
c.7303A>G (p.Arg2435Gly)
c.7249A>G (p.Arg2417Gly)
c.7153A>G (p.Arg2385Gly)
c.7123A>G (p.Arg2375Gly)
c.7048A>G (p.Arg2350Gly)
c.6946A>G (p.Arg2316Gly)
c.6577A>G (p.Arg2193Gly)
ClinVar dbSNP
5g.112843020A>TCA16037491APCc.7480A>T (p.Arg2494Trp)
c.*7432A>T (n.*7432A>T)
c.7372A>T (p.Arg2458Trp)
c.7426A>T (p.Arg2476Trp)
c.231-13629A>T
c.7456A>T (p.Arg2486Trp)
c.7351A>T (p.Arg2451Trp)
c.7342A>T (p.Arg2448Trp)
c.7303A>T (p.Arg2435Trp)
c.7249A>T (p.Arg2417Trp)
c.7153A>T (p.Arg2385Trp)
c.7123A>T (p.Arg2375Trp)
c.7048A>T (p.Arg2350Trp)
c.6946A>T (p.Arg2316Trp)
c.6577A>T (p.Arg2193Trp)
dbSNP

Number of alleles fetched