Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843534T>ACA16038573APCc.7994T>A (p.Met2665Lys)
c.*7946T>A (n.*7946T>A)
c.7886T>A (p.Met2629Lys)
c.7940T>A (p.Met2647Lys)
c.231-13115T>A
c.7970T>A (p.Met2657Lys)
c.7865T>A (p.Met2622Lys)
c.7856T>A (p.Met2619Lys)
c.7817T>A (p.Met2606Lys)
c.7763T>A (p.Met2588Lys)
c.7667T>A (p.Met2556Lys)
c.7637T>A (p.Met2546Lys)
c.7562T>A (p.Met2521Lys)
c.7460T>A (p.Met2487Lys)
c.7091T>A (p.Met2364Lys)
dbSNP
5g.112843534T>CCA16038574APCc.7994T>C (p.Met2665Thr)
c.*7946T>C (n.*7946T>C)
c.7886T>C (p.Met2629Thr)
c.7940T>C (p.Met2647Thr)
c.231-13115T>C
c.7970T>C (p.Met2657Thr)
c.7865T>C (p.Met2622Thr)
c.7856T>C (p.Met2619Thr)
c.7817T>C (p.Met2606Thr)
c.7763T>C (p.Met2588Thr)
c.7667T>C (p.Met2556Thr)
c.7637T>C (p.Met2546Thr)
c.7562T>C (p.Met2521Thr)
c.7460T>C (p.Met2487Thr)
c.7091T>C (p.Met2364Thr)
ClinVar dbSNP
5g.112843534T>GCA16038575APCc.7994T>G (p.Met2665Arg)
c.*7946T>G (n.*7946T>G)
c.7886T>G (p.Met2629Arg)
c.7940T>G (p.Met2647Arg)
c.231-13115T>G
c.7970T>G (p.Met2657Arg)
c.7865T>G (p.Met2622Arg)
c.7856T>G (p.Met2619Arg)
c.7817T>G (p.Met2606Arg)
c.7763T>G (p.Met2588Arg)
c.7667T>G (p.Met2556Arg)
c.7637T>G (p.Met2546Arg)
c.7562T>G (p.Met2521Arg)
c.7460T>G (p.Met2487Arg)
c.7091T>G (p.Met2364Arg)
ClinVar dbSNP
5g.112843534T=CA1573474897APCc.7994T= (p.Met2665=)
c.*7946T= (n.*7946T=)
c.7886T= (p.Met2629=)
c.7940T= (p.Met2647=)
c.231-13115T=
c.7970T= (p.Met2657=)
c.7865T= (p.Met2622=)
c.7856T= (p.Met2619=)
c.7817T= (p.Met2606=)
c.7763T= (p.Met2588=)
c.7667T= (p.Met2556=)
c.7637T= (p.Met2546=)
c.7562T= (p.Met2521=)
c.7460T= (p.Met2487=)
c.7091T= (p.Met2364=)
5g.112843535G>ACA16038576APCc.7995G>A (p.Met2665Ile)
c.*7947G>A (n.*7947G>A)
c.7887G>A (p.Met2629Ile)
c.7941G>A (p.Met2647Ile)
c.231-13114G>A
c.7971G>A (p.Met2657Ile)
c.7866G>A (p.Met2622Ile)
c.7857G>A (p.Met2619Ile)
c.7818G>A (p.Met2606Ile)
c.7764G>A (p.Met2588Ile)
c.7668G>A (p.Met2556Ile)
c.7638G>A (p.Met2546Ile)
c.7563G>A (p.Met2521Ile)
c.7461G>A (p.Met2487Ile)
c.7092G>A (p.Met2364Ile)
dbSNP
5g.112843535G>CCA16038577APCc.7995G>C (p.Met2665Ile)
c.*7947G>C (n.*7947G>C)
c.7887G>C (p.Met2629Ile)
c.7941G>C (p.Met2647Ile)
c.231-13114G>C
c.7971G>C (p.Met2657Ile)
c.7866G>C (p.Met2622Ile)
c.7857G>C (p.Met2619Ile)
c.7818G>C (p.Met2606Ile)
c.7764G>C (p.Met2588Ile)
c.7668G>C (p.Met2556Ile)
c.7638G>C (p.Met2546Ile)
c.7563G>C (p.Met2521Ile)
c.7461G>C (p.Met2487Ile)
c.7092G>C (p.Met2364Ile)
dbSNP
5g.112843535G>TCA16038578APCc.7995G>T (p.Met2665Ile)
c.*7947G>T (n.*7947G>T)
c.7887G>T (p.Met2629Ile)
c.7941G>T (p.Met2647Ile)
c.231-13114G>T
c.7971G>T (p.Met2657Ile)
c.7866G>T (p.Met2622Ile)
c.7857G>T (p.Met2619Ile)
c.7818G>T (p.Met2606Ile)
c.7764G>T (p.Met2588Ile)
c.7668G>T (p.Met2556Ile)
c.7638G>T (p.Met2546Ile)
c.7563G>T (p.Met2521Ile)
c.7461G>T (p.Met2487Ile)
c.7092G>T (p.Met2364Ile)
dbSNP
5g.112843536G>ACA16038579APCc.7996G>A (p.Ala2666Thr)
c.*7948G>A (n.*7948G>A)
c.7888G>A (p.Ala2630Thr)
c.7942G>A (p.Ala2648Thr)
c.231-13113G>A
c.7972G>A (p.Ala2658Thr)
c.7867G>A (p.Ala2623Thr)
c.7858G>A (p.Ala2620Thr)
c.7819G>A (p.Ala2607Thr)
c.7765G>A (p.Ala2589Thr)
c.7669G>A (p.Ala2557Thr)
c.7639G>A (p.Ala2547Thr)
c.7564G>A (p.Ala2522Thr)
c.7462G>A (p.Ala2488Thr)
c.7093G>A (p.Ala2365Thr)
ClinVar dbSNP
5g.112843536G>CCA16038580APCc.7996G>C (p.Ala2666Pro)
c.*7948G>C (n.*7948G>C)
c.7888G>C (p.Ala2630Pro)
c.7942G>C (p.Ala2648Pro)
c.231-13113G>C
c.7972G>C (p.Ala2658Pro)
c.7867G>C (p.Ala2623Pro)
c.7858G>C (p.Ala2620Pro)
c.7819G>C (p.Ala2607Pro)
c.7765G>C (p.Ala2589Pro)
c.7669G>C (p.Ala2557Pro)
c.7639G>C (p.Ala2547Pro)
c.7564G>C (p.Ala2522Pro)
c.7462G>C (p.Ala2488Pro)
c.7093G>C (p.Ala2365Pro)
dbSNP
5g.112843536G=CA1573474911APCc.7996G= (p.Ala2666=)
c.*7948G= (n.*7948G=)
c.7888G= (p.Ala2630=)
c.7942G= (p.Ala2648=)
c.231-13113G=
c.7972G= (p.Ala2658=)
c.7867G= (p.Ala2623=)
c.7858G= (p.Ala2620=)
c.7819G= (p.Ala2607=)
c.7765G= (p.Ala2589=)
c.7669G= (p.Ala2557=)
c.7639G= (p.Ala2547=)
c.7564G= (p.Ala2522=)
c.7462G= (p.Ala2488=)
c.7093G= (p.Ala2365=)
5g.112843536G>TCA16038581APCc.7996G>T (p.Ala2666Ser)
c.*7948G>T (n.*7948G>T)
c.7888G>T (p.Ala2630Ser)
c.7942G>T (p.Ala2648Ser)
c.231-13113G>T
c.7972G>T (p.Ala2658Ser)
c.7867G>T (p.Ala2623Ser)
c.7858G>T (p.Ala2620Ser)
c.7819G>T (p.Ala2607Ser)
c.7765G>T (p.Ala2589Ser)
c.7669G>T (p.Ala2557Ser)
c.7639G>T (p.Ala2547Ser)
c.7564G>T (p.Ala2522Ser)
c.7462G>T (p.Ala2488Ser)
c.7093G>T (p.Ala2365Ser)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112843537C>ACA16038582APCc.7997C>A (p.Ala2666Glu)
c.*7949C>A (n.*7949C>A)
c.7889C>A (p.Ala2630Glu)
c.7943C>A (p.Ala2648Glu)
c.231-13112C>A
c.7973C>A (p.Ala2658Glu)
c.7868C>A (p.Ala2623Glu)
c.7859C>A (p.Ala2620Glu)
c.7820C>A (p.Ala2607Glu)
c.7766C>A (p.Ala2589Glu)
c.7670C>A (p.Ala2557Glu)
c.7640C>A (p.Ala2547Glu)
c.7565C>A (p.Ala2522Glu)
c.7463C>A (p.Ala2488Glu)
c.7094C>A (p.Ala2365Glu)
dbSNP
5g.112843537C=CA1573474939APCc.7997C= (p.Ala2666=)
c.*7949C= (n.*7949C=)
c.7889C= (p.Ala2630=)
c.7943C= (p.Ala2648=)
c.231-13112C=
c.7973C= (p.Ala2658=)
c.7868C= (p.Ala2623=)
c.7859C= (p.Ala2620=)
c.7820C= (p.Ala2607=)
c.7766C= (p.Ala2589=)
c.7670C= (p.Ala2557=)
c.7640C= (p.Ala2547=)
c.7565C= (p.Ala2522=)
c.7463C= (p.Ala2488=)
c.7094C= (p.Ala2365=)
5g.112843537C>GCA16038583APCc.7997C>G (p.Ala2666Gly)
c.*7949C>G (n.*7949C>G)
c.7889C>G (p.Ala2630Gly)
c.7943C>G (p.Ala2648Gly)
c.231-13112C>G
c.7973C>G (p.Ala2658Gly)
c.7868C>G (p.Ala2623Gly)
c.7859C>G (p.Ala2620Gly)
c.7820C>G (p.Ala2607Gly)
c.7766C>G (p.Ala2589Gly)
c.7670C>G (p.Ala2557Gly)
c.7640C>G (p.Ala2547Gly)
c.7565C>G (p.Ala2522Gly)
c.7463C>G (p.Ala2488Gly)
c.7094C>G (p.Ala2365Gly)
ClinVar dbSNP
5g.112843537C>TCA16038584APCc.7997C>T (p.Ala2666Val)
c.*7949C>T (n.*7949C>T)
c.7889C>T (p.Ala2630Val)
c.7943C>T (p.Ala2648Val)
c.231-13112C>T
c.7973C>T (p.Ala2658Val)
c.7868C>T (p.Ala2623Val)
c.7859C>T (p.Ala2620Val)
c.7820C>T (p.Ala2607Val)
c.7766C>T (p.Ala2589Val)
c.7670C>T (p.Ala2557Val)
c.7640C>T (p.Ala2547Val)
c.7565C>T (p.Ala2522Val)
c.7463C>T (p.Ala2488Val)
c.7094C>T (p.Ala2365Val)
ClinVar dbSNP
5g.112843538A=CA1573474972APCc.7998A= (p.Ala2666=)
c.*7950A= (n.*7950A=)
c.7890A= (p.Ala2630=)
c.7944A= (p.Ala2648=)
c.231-13111A=
c.7974A= (p.Ala2658=)
c.7869A= (p.Ala2623=)
c.7860A= (p.Ala2620=)
c.7821A= (p.Ala2607=)
c.7767A= (p.Ala2589=)
c.7671A= (p.Ala2557=)
c.7641A= (p.Ala2547=)
c.7566A= (p.Ala2522=)
c.7464A= (p.Ala2488=)
c.7095A= (p.Ala2365=)
5g.112843538A>CCA446210968APCc.7998A>C (p.Ala2666=)
c.*7950A>C (n.*7950A>C)
c.7890A>C (p.Ala2630=)
c.7944A>C (p.Ala2648=)
c.231-13111A>C
c.7974A>C (p.Ala2658=)
c.7869A>C (p.Ala2623=)
c.7860A>C (p.Ala2620=)
c.7821A>C (p.Ala2607=)
c.7767A>C (p.Ala2589=)
c.7671A>C (p.Ala2557=)
c.7641A>C (p.Ala2547=)
c.7566A>C (p.Ala2522=)
c.7464A>C (p.Ala2488=)
c.7095A>C (p.Ala2365=)
5g.112843538A>GCA446210969APCc.7998A>G (p.Ala2666=)
c.*7950A>G (n.*7950A>G)
c.7890A>G (p.Ala2630=)
c.7944A>G (p.Ala2648=)
c.231-13111A>G
c.7974A>G (p.Ala2658=)
c.7869A>G (p.Ala2623=)
c.7860A>G (p.Ala2620=)
c.7821A>G (p.Ala2607=)
c.7767A>G (p.Ala2589=)
c.7671A>G (p.Ala2557=)
c.7641A>G (p.Ala2547=)
c.7566A>G (p.Ala2522=)
c.7464A>G (p.Ala2488=)
c.7095A>G (p.Ala2365=)
5g.112843538A>TCA446210970APCc.7998A>T (p.Ala2666=)
c.*7950A>T (n.*7950A>T)
c.7890A>T (p.Ala2630=)
c.7944A>T (p.Ala2648=)
c.231-13111A>T
c.7974A>T (p.Ala2658=)
c.7869A>T (p.Ala2623=)
c.7860A>T (p.Ala2620=)
c.7821A>T (p.Ala2607=)
c.7767A>T (p.Ala2589=)
c.7671A>T (p.Ala2557=)
c.7641A>T (p.Ala2547=)
c.7566A>T (p.Ala2522=)
c.7464A>T (p.Ala2488=)
c.7095A>T (p.Ala2365=)
ClinVar dbSNP
5g.112843538_112843548delinsACCTGCTGTTTCA1573474945APCc.7998_8008delinsACCTGCTGTTT (p.Ala2666=)
c.*7950_*7960delinsACCTGCTGTTT (n.*7950_*7960delinsACCTGCTGTTT)
c.7890_7900delinsACCTGCTGTTT (p.Ala2630=)
c.7944_7954delinsACCTGCTGTTT (p.Ala2648=)
c.231-13111_231-13101delinsACCTGCTGTTT
c.7974_7984delinsACCTGCTGTTT (p.Ala2658=)
c.7869_7879delinsACCTGCTGTTT (p.Ala2623=)
c.7860_7870delinsACCTGCTGTTT (p.Ala2620=)
c.7821_7831delinsACCTGCTGTTT (p.Ala2607=)
c.7767_7777delinsACCTGCTGTTT (p.Ala2589=)
c.7671_7681delinsACCTGCTGTTT (p.Ala2557=)
c.7641_7651delinsACCTGCTGTTT (p.Ala2547=)
c.7566_7576delinsACCTGCTGTTT (p.Ala2522=)
c.7464_7474delinsACCTGCTGTTT (p.Ala2488=)
c.7095_7105delinsACCTGCTGTTT (p.Ala2365=)
5g.112843539C>ACA16038585APCc.7999C>A (p.Pro2667Thr)
c.*7951C>A (n.*7951C>A)
c.7891C>A (p.Pro2631Thr)
c.7945C>A (p.Pro2649Thr)
c.231-13110C>A
c.7975C>A (p.Pro2659Thr)
c.7870C>A (p.Pro2624Thr)
c.7861C>A (p.Pro2621Thr)
c.7822C>A (p.Pro2608Thr)
c.7768C>A (p.Pro2590Thr)
c.7672C>A (p.Pro2558Thr)
c.7642C>A (p.Pro2548Thr)
c.7567C>A (p.Pro2523Thr)
c.7465C>A (p.Pro2489Thr)
c.7096C>A (p.Pro2366Thr)
dbSNP
5g.112843539C=CA1573474985APCc.7999C= (p.Pro2667=)
c.*7951C= (n.*7951C=)
c.7891C= (p.Pro2631=)
c.7945C= (p.Pro2649=)
c.231-13110C=
c.7975C= (p.Pro2659=)
c.7870C= (p.Pro2624=)
c.7861C= (p.Pro2621=)
c.7822C= (p.Pro2608=)
c.7768C= (p.Pro2590=)
c.7672C= (p.Pro2558=)
c.7642C= (p.Pro2548=)
c.7567C= (p.Pro2523=)
c.7465C= (p.Pro2489=)
c.7096C= (p.Pro2366=)
5g.112843539C>GCA16038586APCc.7999C>G (p.Pro2667Ala)
c.*7951C>G (n.*7951C>G)
c.7891C>G (p.Pro2631Ala)
c.7945C>G (p.Pro2649Ala)
c.231-13110C>G
c.7975C>G (p.Pro2659Ala)
c.7870C>G (p.Pro2624Ala)
c.7861C>G (p.Pro2621Ala)
c.7822C>G (p.Pro2608Ala)
c.7768C>G (p.Pro2590Ala)
c.7672C>G (p.Pro2558Ala)
c.7642C>G (p.Pro2548Ala)
c.7567C>G (p.Pro2523Ala)
c.7465C>G (p.Pro2489Ala)
c.7096C>G (p.Pro2366Ala)
dbSNP
5g.112843539C>TCA348468APCc.7999C>T (p.Pro2667Ser)
c.*7951C>T (n.*7951C>T)
c.7891C>T (p.Pro2631Ser)
c.7945C>T (p.Pro2649Ser)
c.231-13110C>T
c.7975C>T (p.Pro2659Ser)
c.7870C>T (p.Pro2624Ser)
c.7861C>T (p.Pro2621Ser)
c.7822C>T (p.Pro2608Ser)
c.7768C>T (p.Pro2590Ser)
c.7672C>T (p.Pro2558Ser)
c.7642C>T (p.Pro2548Ser)
c.7567C>T (p.Pro2523Ser)
c.7465C>T (p.Pro2489Ser)
c.7096C>T (p.Pro2366Ser)
ClinVar dbSNP gnomAD v4
5g.112843540_112843549delCA658822517APCc.8000_8009del (p.Pro2667LeufsTer8)
c.*7952_*7961del (n.*7952_*7961del)
c.7892_7901del (p.Pro2631LeufsTer8)
c.7946_7955del (p.Pro2649LeufsTer8)
c.231-13109_231-13100del
c.7976_7985del (p.Pro2659LeufsTer8)
c.7871_7880del (p.Pro2624LeufsTer8)
c.7862_7871del (p.Pro2621LeufsTer8)
c.7823_7832del (p.Pro2608LeufsTer8)
c.7769_7778del (p.Pro2590LeufsTer8)
c.7673_7682del (p.Pro2558LeufsTer8)
c.7643_7652del (p.Pro2548LeufsTer8)
c.7568_7577del (p.Pro2523LeufsTer8)
c.7466_7475del (p.Pro2489LeufsTer8)
c.7097_7106del (p.Pro2366LeufsTer8)
ClinVar dbSNP
5g.112843540C>ACA16038587APCc.8000C>A (p.Pro2667His)
c.*7952C>A (n.*7952C>A)
c.7892C>A (p.Pro2631His)
c.7946C>A (p.Pro2649His)
c.231-13109C>A
c.7976C>A (p.Pro2659His)
c.7871C>A (p.Pro2624His)
c.7862C>A (p.Pro2621His)
c.7823C>A (p.Pro2608His)
c.7769C>A (p.Pro2590His)
c.7673C>A (p.Pro2558His)
c.7643C>A (p.Pro2548His)
c.7568C>A (p.Pro2523His)
c.7466C>A (p.Pro2489His)
c.7097C>A (p.Pro2366His)
dbSNP
5g.112843540C=CA1573474992APCc.8000C= (p.Pro2667=)
c.*7952C= (n.*7952C=)
c.7892C= (p.Pro2631=)
c.7946C= (p.Pro2649=)
c.231-13109C=
c.7976C= (p.Pro2659=)
c.7871C= (p.Pro2624=)
c.7862C= (p.Pro2621=)
c.7823C= (p.Pro2608=)
c.7769C= (p.Pro2590=)
c.7673C= (p.Pro2558=)
c.7643C= (p.Pro2548=)
c.7568C= (p.Pro2523=)
c.7466C= (p.Pro2489=)
c.7097C= (p.Pro2366=)
5g.112843540C>GCA16038588APCc.8000C>G (p.Pro2667Arg)
c.*7952C>G (n.*7952C>G)
c.7892C>G (p.Pro2631Arg)
c.7946C>G (p.Pro2649Arg)
c.231-13109C>G
c.7976C>G (p.Pro2659Arg)
c.7871C>G (p.Pro2624Arg)
c.7862C>G (p.Pro2621Arg)
c.7823C>G (p.Pro2608Arg)
c.7769C>G (p.Pro2590Arg)
c.7673C>G (p.Pro2558Arg)
c.7643C>G (p.Pro2548Arg)
c.7568C>G (p.Pro2523Arg)
c.7466C>G (p.Pro2489Arg)
c.7097C>G (p.Pro2366Arg)
dbSNP
5g.112843540C>TCA16038589APCc.8000C>T (p.Pro2667Leu)
c.*7952C>T (n.*7952C>T)
c.7892C>T (p.Pro2631Leu)
c.7946C>T (p.Pro2649Leu)
c.231-13109C>T
c.7976C>T (p.Pro2659Leu)
c.7871C>T (p.Pro2624Leu)
c.7862C>T (p.Pro2621Leu)
c.7823C>T (p.Pro2608Leu)
c.7769C>T (p.Pro2590Leu)
c.7673C>T (p.Pro2558Leu)
c.7643C>T (p.Pro2548Leu)
c.7568C>T (p.Pro2523Leu)
c.7466C>T (p.Pro2489Leu)
c.7097C>T (p.Pro2366Leu)
ClinVar dbSNP gnomAD v4
5g.112843541T>ACA446210971APCc.8001T>A (p.Pro2667=)
c.*7953T>A (n.*7953T>A)
c.7893T>A (p.Pro2631=)
c.7947T>A (p.Pro2649=)
c.231-13108T>A
c.7977T>A (p.Pro2659=)
c.7872T>A (p.Pro2624=)
c.7863T>A (p.Pro2621=)
c.7824T>A (p.Pro2608=)
c.7770T>A (p.Pro2590=)
c.7674T>A (p.Pro2558=)
c.7644T>A (p.Pro2548=)
c.7569T>A (p.Pro2523=)
c.7467T>A (p.Pro2489=)
c.7098T>A (p.Pro2366=)
dbSNP
5g.112843541T>CCA446210972APCc.8001T>C (p.Pro2667=)
c.*7953T>C (n.*7953T>C)
c.7893T>C (p.Pro2631=)
c.7947T>C (p.Pro2649=)
c.231-13108T>C
c.7977T>C (p.Pro2659=)
c.7872T>C (p.Pro2624=)
c.7863T>C (p.Pro2621=)
c.7824T>C (p.Pro2608=)
c.7770T>C (p.Pro2590=)
c.7674T>C (p.Pro2558=)
c.7644T>C (p.Pro2548=)
c.7569T>C (p.Pro2523=)
c.7467T>C (p.Pro2489=)
c.7098T>C (p.Pro2366=)
dbSNP
5g.112843541T>GCA446210973APCc.8001T>G (p.Pro2667=)
c.*7953T>G (n.*7953T>G)
c.7893T>G (p.Pro2631=)
c.7947T>G (p.Pro2649=)
c.231-13108T>G
c.7977T>G (p.Pro2659=)
c.7872T>G (p.Pro2624=)
c.7863T>G (p.Pro2621=)
c.7824T>G (p.Pro2608=)
c.7770T>G (p.Pro2590=)
c.7674T>G (p.Pro2558=)
c.7644T>G (p.Pro2548=)
c.7569T>G (p.Pro2523=)
c.7467T>G (p.Pro2489=)
c.7098T>G (p.Pro2366=)
ClinVar dbSNP
5g.112843542delCA446210974APCc.8002del (p.Ala2668LeufsTer10)
c.*7954del (n.*7954del)
c.7894del (p.Ala2632LeufsTer10)
c.7948del (p.Ala2650LeufsTer10)
c.231-13107del
c.7978del (p.Ala2660LeufsTer10)
c.7873del (p.Ala2625LeufsTer10)
c.7864del (p.Ala2622LeufsTer10)
c.7825del (p.Ala2609LeufsTer10)
c.7771del (p.Ala2591LeufsTer10)
c.7675del (p.Ala2559LeufsTer10)
c.7645del (p.Ala2549LeufsTer10)
c.7570del (p.Ala2524LeufsTer10)
c.7468del (p.Ala2490LeufsTer10)
c.7099del (p.Ala2367LeufsTer10)
COSMIC
5g.112843542G>ACA16038590APCc.8002G>A (p.Ala2668Thr)
c.*7954G>A (n.*7954G>A)
c.7894G>A (p.Ala2632Thr)
c.7948G>A (p.Ala2650Thr)
c.231-13107G>A
c.7978G>A (p.Ala2660Thr)
c.7873G>A (p.Ala2625Thr)
c.7864G>A (p.Ala2622Thr)
c.7825G>A (p.Ala2609Thr)
c.7771G>A (p.Ala2591Thr)
c.7675G>A (p.Ala2559Thr)
c.7645G>A (p.Ala2549Thr)
c.7570G>A (p.Ala2524Thr)
c.7468G>A (p.Ala2490Thr)
c.7099G>A (p.Ala2367Thr)
dbSNP
5g.112843542G>CCA16038591APCc.8002G>C (p.Ala2668Pro)
c.*7954G>C (n.*7954G>C)
c.7894G>C (p.Ala2632Pro)
c.7948G>C (p.Ala2650Pro)
c.231-13107G>C
c.7978G>C (p.Ala2660Pro)
c.7873G>C (p.Ala2625Pro)
c.7864G>C (p.Ala2622Pro)
c.7825G>C (p.Ala2609Pro)
c.7771G>C (p.Ala2591Pro)
c.7675G>C (p.Ala2559Pro)
c.7645G>C (p.Ala2549Pro)
c.7570G>C (p.Ala2524Pro)
c.7468G>C (p.Ala2490Pro)
c.7099G>C (p.Ala2367Pro)
dbSNP
5g.112843542G>TCA16038592APCc.8002G>T (p.Ala2668Ser)
c.*7954G>T (n.*7954G>T)
c.7894G>T (p.Ala2632Ser)
c.7948G>T (p.Ala2650Ser)
c.231-13107G>T
c.7978G>T (p.Ala2660Ser)
c.7873G>T (p.Ala2625Ser)
c.7864G>T (p.Ala2622Ser)
c.7825G>T (p.Ala2609Ser)
c.7771G>T (p.Ala2591Ser)
c.7675G>T (p.Ala2559Ser)
c.7645G>T (p.Ala2549Ser)
c.7570G>T (p.Ala2524Ser)
c.7468G>T (p.Ala2490Ser)
c.7099G>T (p.Ala2367Ser)
dbSNP
5g.112843543C>ACA16038593APCc.8003C>A (p.Ala2668Asp)
c.*7955C>A (n.*7955C>A)
c.7895C>A (p.Ala2632Asp)
c.7949C>A (p.Ala2650Asp)
c.231-13106C>A
c.7979C>A (p.Ala2660Asp)
c.7874C>A (p.Ala2625Asp)
c.7865C>A (p.Ala2622Asp)
c.7826C>A (p.Ala2609Asp)
c.7772C>A (p.Ala2591Asp)
c.7676C>A (p.Ala2559Asp)
c.7646C>A (p.Ala2549Asp)
c.7571C>A (p.Ala2524Asp)
c.7469C>A (p.Ala2490Asp)
c.7100C>A (p.Ala2367Asp)
ClinVar dbSNP
5g.112843543C>GCA16038594APCc.8003C>G (p.Ala2668Gly)
c.*7955C>G (n.*7955C>G)
c.7895C>G (p.Ala2632Gly)
c.7949C>G (p.Ala2650Gly)
c.231-13106C>G
c.7979C>G (p.Ala2660Gly)
c.7874C>G (p.Ala2625Gly)
c.7865C>G (p.Ala2622Gly)
c.7826C>G (p.Ala2609Gly)
c.7772C>G (p.Ala2591Gly)
c.7676C>G (p.Ala2559Gly)
c.7646C>G (p.Ala2549Gly)
c.7571C>G (p.Ala2524Gly)
c.7469C>G (p.Ala2490Gly)
c.7100C>G (p.Ala2367Gly)
5g.112843543C>TCA16038595APCc.8003C>T (p.Ala2668Val)
c.*7955C>T (n.*7955C>T)
c.7895C>T (p.Ala2632Val)
c.7949C>T (p.Ala2650Val)
c.231-13106C>T
c.7979C>T (p.Ala2660Val)
c.7874C>T (p.Ala2625Val)
c.7865C>T (p.Ala2622Val)
c.7826C>T (p.Ala2609Val)
c.7772C>T (p.Ala2591Val)
c.7676C>T (p.Ala2559Val)
c.7646C>T (p.Ala2549Val)
c.7571C>T (p.Ala2524Val)
c.7469C>T (p.Ala2490Val)
c.7100C>T (p.Ala2367Val)
ClinVar dbSNP
5g.112843544T>ACA446210975APCc.8004T>A (p.Ala2668=)
c.*7956T>A (n.*7956T>A)
c.7896T>A (p.Ala2632=)
c.7950T>A (p.Ala2650=)
c.231-13105T>A
c.7980T>A (p.Ala2660=)
c.7875T>A (p.Ala2625=)
c.7866T>A (p.Ala2622=)
c.7827T>A (p.Ala2609=)
c.7773T>A (p.Ala2591=)
c.7677T>A (p.Ala2559=)
c.7647T>A (p.Ala2549=)
c.7572T>A (p.Ala2524=)
c.7470T>A (p.Ala2490=)
c.7101T>A (p.Ala2367=)
ClinVar
5g.112843544T>CCA446210976APCc.8004T>C (p.Ala2668=)
c.*7956T>C (n.*7956T>C)
c.7896T>C (p.Ala2632=)
c.7950T>C (p.Ala2650=)
c.231-13105T>C
c.7980T>C (p.Ala2660=)
c.7875T>C (p.Ala2625=)
c.7866T>C (p.Ala2622=)
c.7827T>C (p.Ala2609=)
c.7773T>C (p.Ala2591=)
c.7677T>C (p.Ala2559=)
c.7647T>C (p.Ala2549=)
c.7572T>C (p.Ala2524=)
c.7470T>C (p.Ala2490=)
c.7101T>C (p.Ala2367=)
ClinVar dbSNP
5g.112843544T>GCA446210977APCc.8004T>G (p.Ala2668=)
c.*7956T>G (n.*7956T>G)
c.7896T>G (p.Ala2632=)
c.7950T>G (p.Ala2650=)
c.231-13105T>G
c.7980T>G (p.Ala2660=)
c.7875T>G (p.Ala2625=)
c.7866T>G (p.Ala2622=)
c.7827T>G (p.Ala2609=)
c.7773T>G (p.Ala2591=)
c.7677T>G (p.Ala2559=)
c.7647T>G (p.Ala2549=)
c.7572T>G (p.Ala2524=)
c.7470T>G (p.Ala2490=)
c.7101T>G (p.Ala2367=)
5g.112843544T=CA1573475004APCc.8004T= (p.Ala2668=)
c.*7956T= (n.*7956T=)
c.7896T= (p.Ala2632=)
c.7950T= (p.Ala2650=)
c.231-13105T=
c.7980T= (p.Ala2660=)
c.7875T= (p.Ala2625=)
c.7866T= (p.Ala2622=)
c.7827T= (p.Ala2609=)
c.7773T= (p.Ala2591=)
c.7677T= (p.Ala2559=)
c.7647T= (p.Ala2549=)
c.7572T= (p.Ala2524=)
c.7470T= (p.Ala2490=)
c.7101T= (p.Ala2367=)
5g.112843545G>ACA16038596APCc.8005G>A (p.Val2669Ile)
c.*7957G>A (n.*7957G>A)
c.7897G>A (p.Val2633Ile)
c.7951G>A (p.Val2651Ile)
c.231-13104G>A
c.7981G>A (p.Val2661Ile)
c.7876G>A (p.Val2626Ile)
c.7867G>A (p.Val2623Ile)
c.7828G>A (p.Val2610Ile)
c.7774G>A (p.Val2592Ile)
c.7678G>A (p.Val2560Ile)
c.7648G>A (p.Val2550Ile)
c.7573G>A (p.Val2525Ile)
c.7471G>A (p.Val2491Ile)
c.7102G>A (p.Val2368Ile)
ClinVar
5g.112843545G>CCA16038597APCc.8005G>C (p.Val2669Leu)
c.*7957G>C (n.*7957G>C)
c.7897G>C (p.Val2633Leu)
c.7951G>C (p.Val2651Leu)
c.231-13104G>C
c.7981G>C (p.Val2661Leu)
c.7876G>C (p.Val2626Leu)
c.7867G>C (p.Val2623Leu)
c.7828G>C (p.Val2610Leu)
c.7774G>C (p.Val2592Leu)
c.7678G>C (p.Val2560Leu)
c.7648G>C (p.Val2550Leu)
c.7573G>C (p.Val2525Leu)
c.7471G>C (p.Val2491Leu)
c.7102G>C (p.Val2368Leu)
ClinVar dbSNP gnomAD v4
5g.112843545G=CA1573475013APCc.8005G= (p.Val2669=)
c.*7957G= (n.*7957G=)
c.7897G= (p.Val2633=)
c.7951G= (p.Val2651=)
c.231-13104G=
c.7981G= (p.Val2661=)
c.7876G= (p.Val2626=)
c.7867G= (p.Val2623=)
c.7828G= (p.Val2610=)
c.7774G= (p.Val2592=)
c.7678G= (p.Val2560=)
c.7648G= (p.Val2550=)
c.7573G= (p.Val2525=)
c.7471G= (p.Val2491=)
c.7102G= (p.Val2368=)
5g.112843545G>TCA16038598APCc.8005G>T (p.Val2669Phe)
c.*7957G>T (n.*7957G>T)
c.7897G>T (p.Val2633Phe)
c.7951G>T (p.Val2651Phe)
c.231-13104G>T
c.7981G>T (p.Val2661Phe)
c.7876G>T (p.Val2626Phe)
c.7867G>T (p.Val2623Phe)
c.7828G>T (p.Val2610Phe)
c.7774G>T (p.Val2592Phe)
c.7678G>T (p.Val2560Phe)
c.7648G>T (p.Val2550Phe)
c.7573G>T (p.Val2525Phe)
c.7471G>T (p.Val2491Phe)
c.7102G>T (p.Val2368Phe)
5g.112843546T>ACA16038599APCc.8006T>A (p.Val2669Asp)
c.*7958T>A (n.*7958T>A)
c.7898T>A (p.Val2633Asp)
c.7952T>A (p.Val2651Asp)
c.231-13103T>A
c.7982T>A (p.Val2661Asp)
c.7877T>A (p.Val2626Asp)
c.7868T>A (p.Val2623Asp)
c.7829T>A (p.Val2610Asp)
c.7775T>A (p.Val2592Asp)
c.7679T>A (p.Val2560Asp)
c.7649T>A (p.Val2550Asp)
c.7574T>A (p.Val2525Asp)
c.7472T>A (p.Val2491Asp)
c.7103T>A (p.Val2368Asp)
ClinVar dbSNP
5g.112843546T>CCA16038600APCc.8006T>C (p.Val2669Ala)
c.*7958T>C (n.*7958T>C)
c.7898T>C (p.Val2633Ala)
c.7952T>C (p.Val2651Ala)
c.231-13103T>C
c.7982T>C (p.Val2661Ala)
c.7877T>C (p.Val2626Ala)
c.7868T>C (p.Val2623Ala)
c.7829T>C (p.Val2610Ala)
c.7775T>C (p.Val2592Ala)
c.7679T>C (p.Val2560Ala)
c.7649T>C (p.Val2550Ala)
c.7574T>C (p.Val2525Ala)
c.7472T>C (p.Val2491Ala)
c.7103T>C (p.Val2368Ala)
ClinVar dbSNP
5g.112843546T>GCA16038601APCc.8006T>G (p.Val2669Gly)
c.*7958T>G (n.*7958T>G)
c.7898T>G (p.Val2633Gly)
c.7952T>G (p.Val2651Gly)
c.231-13103T>G
c.7982T>G (p.Val2661Gly)
c.7877T>G (p.Val2626Gly)
c.7868T>G (p.Val2623Gly)
c.7829T>G (p.Val2610Gly)
c.7775T>G (p.Val2592Gly)
c.7679T>G (p.Val2560Gly)
c.7649T>G (p.Val2550Gly)
c.7574T>G (p.Val2525Gly)
c.7472T>G (p.Val2491Gly)
c.7103T>G (p.Val2368Gly)
dbSNP
5g.112843547T>ACA446210978APCc.8007T>A (p.Val2669=)
c.*7959T>A (n.*7959T>A)
c.7899T>A (p.Val2633=)
c.7953T>A (p.Val2651=)
c.231-13102T>A
c.7983T>A (p.Val2661=)
c.7878T>A (p.Val2626=)
c.7869T>A (p.Val2623=)
c.7830T>A (p.Val2610=)
c.7776T>A (p.Val2592=)
c.7680T>A (p.Val2560=)
c.7650T>A (p.Val2550=)
c.7575T>A (p.Val2525=)
c.7473T>A (p.Val2491=)
c.7104T>A (p.Val2368=)
dbSNP
5g.112843547T>CCA446210979APCc.8007T>C (p.Val2669=)
c.*7959T>C (n.*7959T>C)
c.7899T>C (p.Val2633=)
c.7953T>C (p.Val2651=)
c.231-13102T>C
c.7983T>C (p.Val2661=)
c.7878T>C (p.Val2626=)
c.7869T>C (p.Val2623=)
c.7830T>C (p.Val2610=)
c.7776T>C (p.Val2592=)
c.7680T>C (p.Val2560=)
c.7650T>C (p.Val2550=)
c.7575T>C (p.Val2525=)
c.7473T>C (p.Val2491=)
c.7104T>C (p.Val2368=)
ClinVar dbSNP
5g.112843547T>GCA446210980APCc.8007T>G (p.Val2669=)
c.*7959T>G (n.*7959T>G)
c.7899T>G (p.Val2633=)
c.7953T>G (p.Val2651=)
c.231-13102T>G
c.7983T>G (p.Val2661=)
c.7878T>G (p.Val2626=)
c.7869T>G (p.Val2623=)
c.7830T>G (p.Val2610=)
c.7776T>G (p.Val2592=)
c.7680T>G (p.Val2560=)
c.7650T>G (p.Val2550=)
c.7575T>G (p.Val2525=)
c.7473T>G (p.Val2491=)
c.7104T>G (p.Val2368=)
dbSNP
5g.112843547T=CA1573475081APCc.8007T= (p.Val2669=)
c.*7959T= (n.*7959T=)
c.7899T= (p.Val2633=)
c.7953T= (p.Val2651=)
c.231-13102T=
c.7983T= (p.Val2661=)
c.7878T= (p.Val2626=)
c.7869T= (p.Val2623=)
c.7830T= (p.Val2610=)
c.7776T= (p.Val2592=)
c.7680T= (p.Val2560=)
c.7650T= (p.Val2550=)
c.7575T= (p.Val2525=)
c.7473T= (p.Val2491=)
c.7104T= (p.Val2368=)
5g.112843548T>ACA16038602APCc.8008T>A (p.Ser2670Thr)
c.*7960T>A (n.*7960T>A)
c.7900T>A (p.Ser2634Thr)
c.7954T>A (p.Ser2652Thr)
c.231-13101T>A
c.7984T>A (p.Ser2662Thr)
c.7879T>A (p.Ser2627Thr)
c.7870T>A (p.Ser2624Thr)
c.7831T>A (p.Ser2611Thr)
c.7777T>A (p.Ser2593Thr)
c.7681T>A (p.Ser2561Thr)
c.7651T>A (p.Ser2551Thr)
c.7576T>A (p.Ser2526Thr)
c.7474T>A (p.Ser2492Thr)
c.7105T>A (p.Ser2369Thr)
dbSNP
5g.112843548T>CCA16038603APCc.8008T>C (p.Ser2670Pro)
c.*7960T>C (n.*7960T>C)
c.7900T>C (p.Ser2634Pro)
c.7954T>C (p.Ser2652Pro)
c.231-13101T>C
c.7984T>C (p.Ser2662Pro)
c.7879T>C (p.Ser2627Pro)
c.7870T>C (p.Ser2624Pro)
c.7831T>C (p.Ser2611Pro)
c.7777T>C (p.Ser2593Pro)
c.7681T>C (p.Ser2561Pro)
c.7651T>C (p.Ser2551Pro)
c.7576T>C (p.Ser2526Pro)
c.7474T>C (p.Ser2492Pro)
c.7105T>C (p.Ser2369Pro)
dbSNP
5g.112843548T>GCA16038604APCc.8008T>G (p.Ser2670Ala)
c.*7960T>G (n.*7960T>G)
c.7900T>G (p.Ser2634Ala)
c.7954T>G (p.Ser2652Ala)
c.231-13101T>G
c.7984T>G (p.Ser2662Ala)
c.7879T>G (p.Ser2627Ala)
c.7870T>G (p.Ser2624Ala)
c.7831T>G (p.Ser2611Ala)
c.7777T>G (p.Ser2593Ala)
c.7681T>G (p.Ser2561Ala)
c.7651T>G (p.Ser2551Ala)
c.7576T>G (p.Ser2526Ala)
c.7474T>G (p.Ser2492Ala)
c.7105T>G (p.Ser2369Ala)
ClinVar dbSNP gnomAD v4
5g.112843548T=CA1573475094APCc.8008T= (p.Ser2670=)
c.*7960T= (n.*7960T=)
c.7900T= (p.Ser2634=)
c.7954T= (p.Ser2652=)
c.231-13101T=
c.7984T= (p.Ser2662=)
c.7879T= (p.Ser2627=)
c.7870T= (p.Ser2624=)
c.7831T= (p.Ser2611=)
c.7777T= (p.Ser2593=)
c.7681T= (p.Ser2561=)
c.7651T= (p.Ser2551=)
c.7576T= (p.Ser2526=)
c.7474T= (p.Ser2492=)
c.7105T= (p.Ser2369=)
5g.112843549delCA2573138680APCc.8009del (p.Ser2670LeufsTer8)
c.*7961del (n.*7961del)
c.7901del (p.Ser2634LeufsTer8)
c.7955del (p.Ser2652LeufsTer8)
c.231-13100del
c.7985del (p.Ser2662LeufsTer8)
c.7880del (p.Ser2627LeufsTer8)
c.7871del (p.Ser2624LeufsTer8)
c.7832del (p.Ser2611LeufsTer8)
c.7778del (p.Ser2593LeufsTer8)
c.7682del (p.Ser2561LeufsTer8)
c.7652del (p.Ser2551LeufsTer8)
c.7577del (p.Ser2526LeufsTer8)
c.7475del (p.Ser2492LeufsTer8)
c.7106del (p.Ser2369LeufsTer8)
ClinVar dbSNP
5g.112843549C>ACA16038605APCc.8009C>A (p.Ser2670Tyr)
c.*7961C>A (n.*7961C>A)
c.7901C>A (p.Ser2634Tyr)
c.7955C>A (p.Ser2652Tyr)
c.231-13100C>A
c.7985C>A (p.Ser2662Tyr)
c.7880C>A (p.Ser2627Tyr)
c.7871C>A (p.Ser2624Tyr)
c.7832C>A (p.Ser2611Tyr)
c.7778C>A (p.Ser2593Tyr)
c.7682C>A (p.Ser2561Tyr)
c.7652C>A (p.Ser2551Tyr)
c.7577C>A (p.Ser2526Tyr)
c.7475C>A (p.Ser2492Tyr)
c.7106C>A (p.Ser2369Tyr)
ClinVar
5g.112843549C>GCA16038606APCc.8009C>G (p.Ser2670Cys)
c.*7961C>G (n.*7961C>G)
c.7901C>G (p.Ser2634Cys)
c.7955C>G (p.Ser2652Cys)
c.231-13100C>G
c.7985C>G (p.Ser2662Cys)
c.7880C>G (p.Ser2627Cys)
c.7871C>G (p.Ser2624Cys)
c.7832C>G (p.Ser2611Cys)
c.7778C>G (p.Ser2593Cys)
c.7682C>G (p.Ser2561Cys)
c.7652C>G (p.Ser2551Cys)
c.7577C>G (p.Ser2526Cys)
c.7475C>G (p.Ser2492Cys)
c.7106C>G (p.Ser2369Cys)
dbSNP
5g.112843549C>TCA16038607APCc.8009C>T (p.Ser2670Phe)
c.*7961C>T (n.*7961C>T)
c.7901C>T (p.Ser2634Phe)
c.7955C>T (p.Ser2652Phe)
c.231-13100C>T
c.7985C>T (p.Ser2662Phe)
c.7880C>T (p.Ser2627Phe)
c.7871C>T (p.Ser2624Phe)
c.7832C>T (p.Ser2611Phe)
c.7778C>T (p.Ser2593Phe)
c.7682C>T (p.Ser2561Phe)
c.7652C>T (p.Ser2551Phe)
c.7577C>T (p.Ser2526Phe)
c.7475C>T (p.Ser2492Phe)
c.7106C>T (p.Ser2369Phe)
dbSNP
5g.112843550T>ACA446210981APCc.8010T>A (p.Ser2670=)
c.*7962T>A (n.*7962T>A)
c.7902T>A (p.Ser2634=)
c.7956T>A (p.Ser2652=)
c.231-13099T>A
c.7986T>A (p.Ser2662=)
c.7881T>A (p.Ser2627=)
c.7872T>A (p.Ser2624=)
c.7833T>A (p.Ser2611=)
c.7779T>A (p.Ser2593=)
c.7683T>A (p.Ser2561=)
c.7653T>A (p.Ser2551=)
c.7578T>A (p.Ser2526=)
c.7476T>A (p.Ser2492=)
c.7107T>A (p.Ser2369=)
5g.112843550T>CCA446210982APCc.8010T>C (p.Ser2670=)
c.*7962T>C (n.*7962T>C)
c.7902T>C (p.Ser2634=)
c.7956T>C (p.Ser2652=)
c.231-13099T>C
c.7986T>C (p.Ser2662=)
c.7881T>C (p.Ser2627=)
c.7872T>C (p.Ser2624=)
c.7833T>C (p.Ser2611=)
c.7779T>C (p.Ser2593=)
c.7683T>C (p.Ser2561=)
c.7653T>C (p.Ser2551=)
c.7578T>C (p.Ser2526=)
c.7476T>C (p.Ser2492=)
c.7107T>C (p.Ser2369=)
5g.112843550T>GCA446210983APCc.8010T>G (p.Ser2670=)
c.*7962T>G (n.*7962T>G)
c.7902T>G (p.Ser2634=)
c.7956T>G (p.Ser2652=)
c.231-13099T>G
c.7986T>G (p.Ser2662=)
c.7881T>G (p.Ser2627=)
c.7872T>G (p.Ser2624=)
c.7833T>G (p.Ser2611=)
c.7779T>G (p.Ser2593=)
c.7683T>G (p.Ser2561=)
c.7653T>G (p.Ser2551=)
c.7578T>G (p.Ser2526=)
c.7476T>G (p.Ser2492=)
c.7107T>G (p.Ser2369=)
5g.112843550_112843551delinsTACA1573475107APCc.8010_8011delinsTA (p.Ser2670=)
c.*7962_*7963delinsTA (n.*7962_*7963delinsTA)
c.7902_7903delinsTA (p.Ser2634=)
c.7956_7957delinsTA (p.Ser2652=)
c.231-13099_231-13098delinsTA
c.7986_7987delinsTA (p.Ser2662=)
c.7881_7882delinsTA (p.Ser2627=)
c.7872_7873delinsTA (p.Ser2624=)
c.7833_7834delinsTA (p.Ser2611=)
c.7779_7780delinsTA (p.Ser2593=)
c.7683_7684delinsTA (p.Ser2561=)
c.7653_7654delinsTA (p.Ser2551=)
c.7578_7579delinsTA (p.Ser2526=)
c.7476_7477delinsTA (p.Ser2492=)
c.7107_7108delinsTA (p.Ser2369=)
5g.112843551A=CA1573475127APCc.8011A= (p.Lys2671=)
c.*7963A= (n.*7963A=)
c.7903A= (p.Lys2635=)
c.7957A= (p.Lys2653=)
c.231-13098A=
c.7987A= (p.Lys2663=)
c.7882A= (p.Lys2628=)
c.7873A= (p.Lys2625=)
c.7834A= (p.Lys2612=)
c.7780A= (p.Lys2594=)
c.7684A= (p.Lys2562=)
c.7654A= (p.Lys2552=)
c.7579A= (p.Lys2527=)
c.7477A= (p.Lys2493=)
c.7108A= (p.Lys2370=)
5g.112843551A>CCA16038608APCc.8011A>C (p.Lys2671Gln)
c.*7963A>C (n.*7963A>C)
c.7903A>C (p.Lys2635Gln)
c.7957A>C (p.Lys2653Gln)
c.231-13098A>C
c.7987A>C (p.Lys2663Gln)
c.7882A>C (p.Lys2628Gln)
c.7873A>C (p.Lys2625Gln)
c.7834A>C (p.Lys2612Gln)
c.7780A>C (p.Lys2594Gln)
c.7684A>C (p.Lys2562Gln)
c.7654A>C (p.Lys2552Gln)
c.7579A>C (p.Lys2527Gln)
c.7477A>C (p.Lys2493Gln)
c.7108A>C (p.Lys2370Gln)
5g.112843551A>GCA16038609APCc.8011A>G (p.Lys2671Glu)
c.*7963A>G (n.*7963A>G)
c.7903A>G (p.Lys2635Glu)
c.7957A>G (p.Lys2653Glu)
c.231-13098A>G
c.7987A>G (p.Lys2663Glu)
c.7882A>G (p.Lys2628Glu)
c.7873A>G (p.Lys2625Glu)
c.7834A>G (p.Lys2612Glu)
c.7780A>G (p.Lys2594Glu)
c.7684A>G (p.Lys2562Glu)
c.7654A>G (p.Lys2552Glu)
c.7579A>G (p.Lys2527Glu)
c.7477A>G (p.Lys2493Glu)
c.7108A>G (p.Lys2370Glu)
ClinVar dbSNP gnomAD v4
5g.112843551A>TCA16038610APCc.8011A>T (p.Lys2671Ter)
c.*7963A>T (n.*7963A>T)
c.7903A>T (p.Lys2635Ter)
c.7957A>T (p.Lys2653Ter)
c.231-13098A>T
c.7987A>T (p.Lys2663Ter)
c.7882A>T (p.Lys2628Ter)
c.7873A>T (p.Lys2625Ter)
c.7834A>T (p.Lys2612Ter)
c.7780A>T (p.Lys2594Ter)
c.7684A>T (p.Lys2562Ter)
c.7654A>T (p.Lys2552Ter)
c.7579A>T (p.Lys2527Ter)
c.7477A>T (p.Lys2493Ter)
c.7108A>T (p.Lys2370Ter)
5g.112843554delCA562217625APCc.8014del (p.Thr2672GlnfsTer6)
c.*7966del (n.*7966del)
c.7906del (p.Thr2636GlnfsTer6)
c.7960del (p.Thr2654GlnfsTer6)
c.231-13095del
c.7990del (p.Thr2664GlnfsTer6)
c.7885del (p.Thr2629GlnfsTer6)
c.7876del (p.Thr2626GlnfsTer6)
c.7837del (p.Thr2613GlnfsTer6)
c.7783del (p.Thr2595GlnfsTer6)
c.7687del (p.Thr2563GlnfsTer6)
c.7657del (p.Thr2553GlnfsTer6)
c.7582del (p.Thr2528GlnfsTer6)
c.7480del (p.Thr2494GlnfsTer6)
c.7111del (p.Thr2371GlnfsTer6)
ClinVar dbSNP gnomAD v2
5g.112843551_112843555delinsAAAACCA1573475125APCc.8011_8015delinsAAAAC (p.Lys2671=)
c.*7963_*7967delinsAAAAC (n.*7963_*7967delinsAAAAC)
c.7903_7907delinsAAAAC (p.Lys2635=)
c.7957_7961delinsAAAAC (p.Lys2653=)
c.231-13098_231-13094delinsAAAAC
c.7987_7991delinsAAAAC (p.Lys2663=)
c.7882_7886delinsAAAAC (p.Lys2628=)
c.7873_7877delinsAAAAC (p.Lys2625=)
c.7834_7838delinsAAAAC (p.Lys2612=)
c.7780_7784delinsAAAAC (p.Lys2594=)
c.7684_7688delinsAAAAC (p.Lys2562=)
c.7654_7658delinsAAAAC (p.Lys2552=)
c.7579_7583delinsAAAAC (p.Lys2527=)
c.7477_7481delinsAAAAC (p.Lys2493=)
c.7108_7112delinsAAAAC (p.Lys2370=)
5g.112843552A>CCA16038611APCc.8012A>C (p.Lys2671Thr)
c.*7964A>C (n.*7964A>C)
c.7904A>C (p.Lys2635Thr)
c.7958A>C (p.Lys2653Thr)
c.231-13097A>C
c.7988A>C (p.Lys2663Thr)
c.7883A>C (p.Lys2628Thr)
c.7874A>C (p.Lys2625Thr)
c.7835A>C (p.Lys2612Thr)
c.7781A>C (p.Lys2594Thr)
c.7685A>C (p.Lys2562Thr)
c.7655A>C (p.Lys2552Thr)
c.7580A>C (p.Lys2527Thr)
c.7478A>C (p.Lys2493Thr)
c.7109A>C (p.Lys2370Thr)
5g.112843552A>GCA16038612APCc.8012A>G (p.Lys2671Arg)
c.*7964A>G (n.*7964A>G)
c.7904A>G (p.Lys2635Arg)
c.7958A>G (p.Lys2653Arg)
c.231-13097A>G
c.7988A>G (p.Lys2663Arg)
c.7883A>G (p.Lys2628Arg)
c.7874A>G (p.Lys2625Arg)
c.7835A>G (p.Lys2612Arg)
c.7781A>G (p.Lys2594Arg)
c.7685A>G (p.Lys2562Arg)
c.7655A>G (p.Lys2552Arg)
c.7580A>G (p.Lys2527Arg)
c.7478A>G (p.Lys2493Arg)
c.7109A>G (p.Lys2370Arg)
5g.112843552A>TCA16038613APCc.8012A>T (p.Lys2671Ile)
c.*7964A>T (n.*7964A>T)
c.7904A>T (p.Lys2635Ile)
c.7958A>T (p.Lys2653Ile)
c.231-13097A>T
c.7988A>T (p.Lys2663Ile)
c.7883A>T (p.Lys2628Ile)
c.7874A>T (p.Lys2625Ile)
c.7835A>T (p.Lys2612Ile)
c.7781A>T (p.Lys2594Ile)
c.7685A>T (p.Lys2562Ile)
c.7655A>T (p.Lys2552Ile)
c.7580A>T (p.Lys2527Ile)
c.7478A>T (p.Lys2493Ile)
c.7109A>T (p.Lys2370Ile)
dbSNP
5g.112843553_112843556delCA658822518APCc.8013_8016del (p.Thr2672ArgfsTer5)
c.*7965_*7968del (n.*7965_*7968del)
c.7905_7908del (p.Thr2636ArgfsTer5)
c.7959_7962del (p.Thr2654ArgfsTer5)
c.231-13096_231-13093del
c.7989_7992del (p.Thr2664ArgfsTer5)
c.7884_7887del (p.Thr2629ArgfsTer5)
c.7875_7878del (p.Thr2626ArgfsTer5)
c.7836_7839del (p.Thr2613ArgfsTer5)
c.7782_7785del (p.Thr2595ArgfsTer5)
c.7686_7689del (p.Thr2563ArgfsTer5)
c.7656_7659del (p.Thr2553ArgfsTer5)
c.7581_7584del (p.Thr2528ArgfsTer5)
c.7479_7482del (p.Thr2494ArgfsTer5)
c.7110_7113del (p.Thr2371ArgfsTer5)
ClinVar dbSNP
5g.112843553A>CCA16038614APCc.8013A>C (p.Lys2671Asn)
c.*7965A>C (n.*7965A>C)
c.7905A>C (p.Lys2635Asn)
c.7959A>C (p.Lys2653Asn)
c.231-13096A>C
c.7989A>C (p.Lys2663Asn)
c.7884A>C (p.Lys2628Asn)
c.7875A>C (p.Lys2625Asn)
c.7836A>C (p.Lys2612Asn)
c.7782A>C (p.Lys2594Asn)
c.7686A>C (p.Lys2562Asn)
c.7656A>C (p.Lys2552Asn)
c.7581A>C (p.Lys2527Asn)
c.7479A>C (p.Lys2493Asn)
c.7110A>C (p.Lys2370Asn)
ClinVar
5g.112843553A>GCA446210984APCc.8013A>G (p.Lys2671=)
c.*7965A>G (n.*7965A>G)
c.7905A>G (p.Lys2635=)
c.7959A>G (p.Lys2653=)
c.231-13096A>G
c.7989A>G (p.Lys2663=)
c.7884A>G (p.Lys2628=)
c.7875A>G (p.Lys2625=)
c.7836A>G (p.Lys2612=)
c.7782A>G (p.Lys2594=)
c.7686A>G (p.Lys2562=)
c.7656A>G (p.Lys2552=)
c.7581A>G (p.Lys2527=)
c.7479A>G (p.Lys2493=)
c.7110A>G (p.Lys2370=)
5g.112843553A>TCA16038615APCc.8013A>T (p.Lys2671Asn)
c.*7965A>T (n.*7965A>T)
c.7905A>T (p.Lys2635Asn)
c.7959A>T (p.Lys2653Asn)
c.231-13096A>T
c.7989A>T (p.Lys2663Asn)
c.7884A>T (p.Lys2628Asn)
c.7875A>T (p.Lys2625Asn)
c.7836A>T (p.Lys2612Asn)
c.7782A>T (p.Lys2594Asn)
c.7686A>T (p.Lys2562Asn)
c.7656A>T (p.Lys2552Asn)
c.7581A>T (p.Lys2527Asn)
c.7479A>T (p.Lys2493Asn)
c.7110A>T (p.Lys2370Asn)
dbSNP
5g.112843554A>CCA16038616APCc.8014A>C (p.Thr2672Pro)
c.*7966A>C (n.*7966A>C)
c.7906A>C (p.Thr2636Pro)
c.7960A>C (p.Thr2654Pro)
c.231-13095A>C
c.7990A>C (p.Thr2664Pro)
c.7885A>C (p.Thr2629Pro)
c.7876A>C (p.Thr2626Pro)
c.7837A>C (p.Thr2613Pro)
c.7783A>C (p.Thr2595Pro)
c.7687A>C (p.Thr2563Pro)
c.7657A>C (p.Thr2553Pro)
c.7582A>C (p.Thr2528Pro)
c.7480A>C (p.Thr2494Pro)
c.7111A>C (p.Thr2371Pro)
dbSNP
5g.112843554A>GCA16038617APCc.8014A>G (p.Thr2672Ala)
c.*7966A>G (n.*7966A>G)
c.7906A>G (p.Thr2636Ala)
c.7960A>G (p.Thr2654Ala)
c.231-13095A>G
c.7990A>G (p.Thr2664Ala)
c.7885A>G (p.Thr2629Ala)
c.7876A>G (p.Thr2626Ala)
c.7837A>G (p.Thr2613Ala)
c.7783A>G (p.Thr2595Ala)
c.7687A>G (p.Thr2563Ala)
c.7657A>G (p.Thr2553Ala)
c.7582A>G (p.Thr2528Ala)
c.7480A>G (p.Thr2494Ala)
c.7111A>G (p.Thr2371Ala)
dbSNP
5g.112843554A>TCA16038618APCc.8014A>T (p.Thr2672Ser)
c.*7966A>T (n.*7966A>T)
c.7906A>T (p.Thr2636Ser)
c.7960A>T (p.Thr2654Ser)
c.231-13095A>T
c.7990A>T (p.Thr2664Ser)
c.7885A>T (p.Thr2629Ser)
c.7876A>T (p.Thr2626Ser)
c.7837A>T (p.Thr2613Ser)
c.7783A>T (p.Thr2595Ser)
c.7687A>T (p.Thr2563Ser)
c.7657A>T (p.Thr2553Ser)
c.7582A>T (p.Thr2528Ser)
c.7480A>T (p.Thr2494Ser)
c.7111A>T (p.Thr2371Ser)
dbSNP
5g.112843555C>ACA16038619APCc.8015C>A (p.Thr2672Lys)
c.*7967C>A (n.*7967C>A)
c.7907C>A (p.Thr2636Lys)
c.7961C>A (p.Thr2654Lys)
c.231-13094C>A
c.7991C>A (p.Thr2664Lys)
c.7886C>A (p.Thr2629Lys)
c.7877C>A (p.Thr2626Lys)
c.7838C>A (p.Thr2613Lys)
c.7784C>A (p.Thr2595Lys)
c.7688C>A (p.Thr2563Lys)
c.7658C>A (p.Thr2553Lys)
c.7583C>A (p.Thr2528Lys)
c.7481C>A (p.Thr2494Lys)
c.7112C>A (p.Thr2371Lys)
dbSNP
5g.112843555C>GCA16038620APCc.8015C>G (p.Thr2672Arg)
c.*7967C>G (n.*7967C>G)
c.7907C>G (p.Thr2636Arg)
c.7961C>G (p.Thr2654Arg)
c.231-13094C>G
c.7991C>G (p.Thr2664Arg)
c.7886C>G (p.Thr2629Arg)
c.7877C>G (p.Thr2626Arg)
c.7838C>G (p.Thr2613Arg)
c.7784C>G (p.Thr2595Arg)
c.7688C>G (p.Thr2563Arg)
c.7658C>G (p.Thr2553Arg)
c.7583C>G (p.Thr2528Arg)
c.7481C>G (p.Thr2494Arg)
c.7112C>G (p.Thr2371Arg)
dbSNP
5g.112843555C>TCA16038621APCc.8015C>T (p.Thr2672Ile)
c.*7967C>T (n.*7967C>T)
c.7907C>T (p.Thr2636Ile)
c.7961C>T (p.Thr2654Ile)
c.231-13094C>T
c.7991C>T (p.Thr2664Ile)
c.7886C>T (p.Thr2629Ile)
c.7877C>T (p.Thr2626Ile)
c.7838C>T (p.Thr2613Ile)
c.7784C>T (p.Thr2595Ile)
c.7688C>T (p.Thr2563Ile)
c.7658C>T (p.Thr2553Ile)
c.7583C>T (p.Thr2528Ile)
c.7481C>T (p.Thr2494Ile)
c.7112C>T (p.Thr2371Ile)
dbSNP
5g.112843556A>CCA446210985APCc.8016A>C (p.Thr2672=)
c.*7968A>C (n.*7968A>C)
c.7908A>C (p.Thr2636=)
c.7962A>C (p.Thr2654=)
c.231-13093A>C
c.7992A>C (p.Thr2664=)
c.7887A>C (p.Thr2629=)
c.7878A>C (p.Thr2626=)
c.7839A>C (p.Thr2613=)
c.7785A>C (p.Thr2595=)
c.7689A>C (p.Thr2563=)
c.7659A>C (p.Thr2553=)
c.7584A>C (p.Thr2528=)
c.7482A>C (p.Thr2494=)
c.7113A>C (p.Thr2371=)
5g.112843556A>GCA446210986APCc.8016A>G (p.Thr2672=)
c.*7968A>G (n.*7968A>G)
c.7908A>G (p.Thr2636=)
c.7962A>G (p.Thr2654=)
c.231-13093A>G
c.7992A>G (p.Thr2664=)
c.7887A>G (p.Thr2629=)
c.7878A>G (p.Thr2626=)
c.7839A>G (p.Thr2613=)
c.7785A>G (p.Thr2595=)
c.7689A>G (p.Thr2563=)
c.7659A>G (p.Thr2553=)
c.7584A>G (p.Thr2528=)
c.7482A>G (p.Thr2494=)
c.7113A>G (p.Thr2371=)
5g.112843556A>TCA446210987APCc.8016A>T (p.Thr2672=)
c.*7968A>T (n.*7968A>T)
c.7908A>T (p.Thr2636=)
c.7962A>T (p.Thr2654=)
c.231-13093A>T
c.7992A>T (p.Thr2664=)
c.7887A>T (p.Thr2629=)
c.7878A>T (p.Thr2626=)
c.7839A>T (p.Thr2613=)
c.7785A>T (p.Thr2595=)
c.7689A>T (p.Thr2563=)
c.7659A>T (p.Thr2553=)
c.7584A>T (p.Thr2528=)
c.7482A>T (p.Thr2494=)
c.7113A>T (p.Thr2371=)
dbSNP
5g.112843556_112843558delCA2674869738APCc.8016_8018del (p.Glu2673del)
c.*7968_*7970del (n.*7968_*7970del)
c.7908_7910del (p.Glu2637del)
c.7962_7964del (p.Glu2655del)
c.231-13093_231-13091del
c.7992_7994del (p.Glu2665del)
c.7887_7889del (p.Glu2630del)
c.7878_7880del (p.Glu2627del)
c.7839_7841del (p.Glu2614del)
c.7785_7787del (p.Glu2596del)
c.7689_7691del (p.Glu2564del)
c.7659_7661del (p.Glu2554del)
c.7584_7586del (p.Glu2529del)
c.7482_7484del (p.Glu2495del)
c.7113_7115del (p.Glu2372del)
gnomAD v4
5g.112843558_112843559delCA2543984220APCc.8018_8019del (p.Glu2673GlyfsTer7)
c.*7970_*7971del (n.*7970_*7971del)
c.7910_7911del (p.Glu2637GlyfsTer7)
c.7964_7965del (p.Glu2655GlyfsTer7)
c.231-13091_231-13090del
c.7994_7995del (p.Glu2665GlyfsTer7)
c.7889_7890del (p.Glu2630GlyfsTer7)
c.7880_7881del (p.Glu2627GlyfsTer7)
c.7841_7842del (p.Glu2614GlyfsTer7)
c.7787_7788del (p.Glu2596GlyfsTer7)
c.7691_7692del (p.Glu2564GlyfsTer7)
c.7661_7662del (p.Glu2554GlyfsTer7)
c.7586_7587del (p.Glu2529GlyfsTer7)
c.7484_7485del (p.Glu2495GlyfsTer7)
c.7115_7116del (p.Glu2372GlyfsTer7)
ClinVar dbSNP gnomAD v4
5g.112843557G>ACA16038622APCc.8017G>A (p.Glu2673Lys)
c.*7969G>A (n.*7969G>A)
c.7909G>A (p.Glu2637Lys)
c.7963G>A (p.Glu2655Lys)
c.231-13092G>A
c.7993G>A (p.Glu2665Lys)
c.7888G>A (p.Glu2630Lys)
c.7879G>A (p.Glu2627Lys)
c.7840G>A (p.Glu2614Lys)
c.7786G>A (p.Glu2596Lys)
c.7690G>A (p.Glu2564Lys)
c.7660G>A (p.Glu2554Lys)
c.7585G>A (p.Glu2529Lys)
c.7483G>A (p.Glu2495Lys)
c.7114G>A (p.Glu2372Lys)
dbSNP
5g.112843557G>CCA16038623APCc.8017G>C (p.Glu2673Gln)
c.*7969G>C (n.*7969G>C)
c.7909G>C (p.Glu2637Gln)
c.7963G>C (p.Glu2655Gln)
c.231-13092G>C
c.7993G>C (p.Glu2665Gln)
c.7888G>C (p.Glu2630Gln)
c.7879G>C (p.Glu2627Gln)
c.7840G>C (p.Glu2614Gln)
c.7786G>C (p.Glu2596Gln)
c.7690G>C (p.Glu2564Gln)
c.7660G>C (p.Glu2554Gln)
c.7585G>C (p.Glu2529Gln)
c.7483G>C (p.Glu2495Gln)
c.7114G>C (p.Glu2372Gln)
dbSNP
5g.112843557G>TCA16038624APCc.8017G>T (p.Glu2673Ter)
c.*7969G>T (n.*7969G>T)
c.7909G>T (p.Glu2637Ter)
c.7963G>T (p.Glu2655Ter)
c.231-13092G>T
c.7993G>T (p.Glu2665Ter)
c.7888G>T (p.Glu2630Ter)
c.7879G>T (p.Glu2627Ter)
c.7840G>T (p.Glu2614Ter)
c.7786G>T (p.Glu2596Ter)
c.7690G>T (p.Glu2564Ter)
c.7660G>T (p.Glu2554Ter)
c.7585G>T (p.Glu2529Ter)
c.7483G>T (p.Glu2495Ter)
c.7114G>T (p.Glu2372Ter)
5g.112843558A>CCA16038625APCc.8018A>C (p.Glu2673Ala)
c.*7970A>C (n.*7970A>C)
c.7910A>C (p.Glu2637Ala)
c.7964A>C (p.Glu2655Ala)
c.231-13091A>C
c.7994A>C (p.Glu2665Ala)
c.7889A>C (p.Glu2630Ala)
c.7880A>C (p.Glu2627Ala)
c.7841A>C (p.Glu2614Ala)
c.7787A>C (p.Glu2596Ala)
c.7691A>C (p.Glu2564Ala)
c.7661A>C (p.Glu2554Ala)
c.7586A>C (p.Glu2529Ala)
c.7484A>C (p.Glu2495Ala)
c.7115A>C (p.Glu2372Ala)
5g.112843558A>GCA16038626APCc.8018A>G (p.Glu2673Gly)
c.*7970A>G (n.*7970A>G)
c.7910A>G (p.Glu2637Gly)
c.7964A>G (p.Glu2655Gly)
c.231-13091A>G
c.7994A>G (p.Glu2665Gly)
c.7889A>G (p.Glu2630Gly)
c.7880A>G (p.Glu2627Gly)
c.7841A>G (p.Glu2614Gly)
c.7787A>G (p.Glu2596Gly)
c.7691A>G (p.Glu2564Gly)
c.7661A>G (p.Glu2554Gly)
c.7586A>G (p.Glu2529Gly)
c.7484A>G (p.Glu2495Gly)
c.7115A>G (p.Glu2372Gly)
ClinVar dbSNP
5g.112843558A>TCA16038627APCc.8018A>T (p.Glu2673Val)
c.*7970A>T (n.*7970A>T)
c.7910A>T (p.Glu2637Val)
c.7964A>T (p.Glu2655Val)
c.231-13091A>T
c.7994A>T (p.Glu2665Val)
c.7889A>T (p.Glu2630Val)
c.7880A>T (p.Glu2627Val)
c.7841A>T (p.Glu2614Val)
c.7787A>T (p.Glu2596Val)
c.7691A>T (p.Glu2564Val)
c.7661A>T (p.Glu2554Val)
c.7586A>T (p.Glu2529Val)
c.7484A>T (p.Glu2495Val)
c.7115A>T (p.Glu2372Val)
ClinVar dbSNP
5g.112843559G>ACA446210988APCc.8019G>A (p.Glu2673=)
c.*7971G>A (n.*7971G>A)
c.7911G>A (p.Glu2637=)
c.7965G>A (p.Glu2655=)
c.231-13090G>A
c.7995G>A (p.Glu2665=)
c.7890G>A (p.Glu2630=)
c.7881G>A (p.Glu2627=)
c.7842G>A (p.Glu2614=)
c.7788G>A (p.Glu2596=)
c.7692G>A (p.Glu2564=)
c.7662G>A (p.Glu2554=)
c.7587G>A (p.Glu2529=)
c.7485G>A (p.Glu2495=)
c.7116G>A (p.Glu2372=)
ClinVar dbSNP gnomAD v4
5g.112843559G>CCA16038628APCc.8019G>C (p.Glu2673Asp)
c.*7971G>C (n.*7971G>C)
c.7911G>C (p.Glu2637Asp)
c.7965G>C (p.Glu2655Asp)
c.231-13090G>C
c.7995G>C (p.Glu2665Asp)
c.7890G>C (p.Glu2630Asp)
c.7881G>C (p.Glu2627Asp)
c.7842G>C (p.Glu2614Asp)
c.7788G>C (p.Glu2596Asp)
c.7692G>C (p.Glu2564Asp)
c.7662G>C (p.Glu2554Asp)
c.7587G>C (p.Glu2529Asp)
c.7485G>C (p.Glu2495Asp)
c.7116G>C (p.Glu2372Asp)
dbSNP
5g.112843559G=CA1573475138APCc.8019G= (p.Glu2673=)
c.*7971G= (n.*7971G=)
c.7911G= (p.Glu2637=)
c.7965G= (p.Glu2655=)
c.231-13090G=
c.7995G= (p.Glu2665=)
c.7890G= (p.Glu2630=)
c.7881G= (p.Glu2627=)
c.7842G= (p.Glu2614=)
c.7788G= (p.Glu2596=)
c.7692G= (p.Glu2564=)
c.7662G= (p.Glu2554=)
c.7587G= (p.Glu2529=)
c.7485G= (p.Glu2495=)
c.7116G= (p.Glu2372=)
5g.112843559G>TCA16038629APCc.8019G>T (p.Glu2673Asp)
c.*7971G>T (n.*7971G>T)
c.7911G>T (p.Glu2637Asp)
c.7965G>T (p.Glu2655Asp)
c.231-13090G>T
c.7995G>T (p.Glu2665Asp)
c.7890G>T (p.Glu2630Asp)
c.7881G>T (p.Glu2627Asp)
c.7842G>T (p.Glu2614Asp)
c.7788G>T (p.Glu2596Asp)
c.7692G>T (p.Glu2564Asp)
c.7662G>T (p.Glu2554Asp)
c.7587G>T (p.Glu2529Asp)
c.7485G>T (p.Glu2495Asp)
c.7116G>T (p.Glu2372Asp)
dbSNP
5g.112843560G>ACA16038630APCc.8020G>A (p.Asp2674Asn)
c.*7972G>A (n.*7972G>A)
c.7912G>A (p.Asp2638Asn)
c.7966G>A (p.Asp2656Asn)
c.231-13089G>A
c.7996G>A (p.Asp2666Asn)
c.7891G>A (p.Asp2631Asn)
c.7882G>A (p.Asp2628Asn)
c.7843G>A (p.Asp2615Asn)
c.7789G>A (p.Asp2597Asn)
c.7693G>A (p.Asp2565Asn)
c.7663G>A (p.Asp2555Asn)
c.7588G>A (p.Asp2530Asn)
c.7486G>A (p.Asp2496Asn)
c.7117G>A (p.Asp2373Asn)
ClinVar dbSNP gnomAD v4
5g.112843560G>CCA16038631APCc.8020G>C (p.Asp2674His)
c.*7972G>C (n.*7972G>C)
c.7912G>C (p.Asp2638His)
c.7966G>C (p.Asp2656His)
c.231-13089G>C
c.7996G>C (p.Asp2666His)
c.7891G>C (p.Asp2631His)
c.7882G>C (p.Asp2628His)
c.7843G>C (p.Asp2615His)
c.7789G>C (p.Asp2597His)
c.7693G>C (p.Asp2565His)
c.7663G>C (p.Asp2555His)
c.7588G>C (p.Asp2530His)
c.7486G>C (p.Asp2496His)
c.7117G>C (p.Asp2373His)
dbSNP
5g.112843560G=CA1573475147APCc.8020G= (p.Asp2674=)
c.*7972G= (n.*7972G=)
c.7912G= (p.Asp2638=)
c.7966G= (p.Asp2656=)
c.231-13089G=
c.7996G= (p.Asp2666=)
c.7891G= (p.Asp2631=)
c.7882G= (p.Asp2628=)
c.7843G= (p.Asp2615=)
c.7789G= (p.Asp2597=)
c.7693G= (p.Asp2565=)
c.7663G= (p.Asp2555=)
c.7588G= (p.Asp2530=)
c.7486G= (p.Asp2496=)
c.7117G= (p.Asp2373=)
5g.112843560G>TCA16038632APCc.8020G>T (p.Asp2674Tyr)
c.*7972G>T (n.*7972G>T)
c.7912G>T (p.Asp2638Tyr)
c.7966G>T (p.Asp2656Tyr)
c.231-13089G>T
c.7996G>T (p.Asp2666Tyr)
c.7891G>T (p.Asp2631Tyr)
c.7882G>T (p.Asp2628Tyr)
c.7843G>T (p.Asp2615Tyr)
c.7789G>T (p.Asp2597Tyr)
c.7693G>T (p.Asp2565Tyr)
c.7663G>T (p.Asp2555Tyr)
c.7588G>T (p.Asp2530Tyr)
c.7486G>T (p.Asp2496Tyr)
c.7117G>T (p.Asp2373Tyr)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112843560_112843562delinsTACA2582341638APCc.8020_8022delinsTA (p.Asp2674Ter)
c.*7972_*7974delinsTA (n.*7972_*7974delinsTA)
c.7912_7914delinsTA (p.Asp2638Ter)
c.7966_7968delinsTA (p.Asp2656Ter)
c.231-13089_231-13087delinsTA
c.7996_7998delinsTA (p.Asp2666Ter)
c.7891_7893delinsTA (p.Asp2631Ter)
c.7882_7884delinsTA (p.Asp2628Ter)
c.7843_7845delinsTA (p.Asp2615Ter)
c.7789_7791delinsTA (p.Asp2597Ter)
c.7693_7695delinsTA (p.Asp2565Ter)
c.7663_7665delinsTA (p.Asp2555Ter)
c.7588_7590delinsTA (p.Asp2530Ter)
c.7486_7488delinsTA (p.Asp2496Ter)
c.7117_7119delinsTA (p.Asp2373Ter)
ClinVar
5g.112843561A=CA1573475157APCc.8021A= (p.Asp2674=)
c.*7973A= (n.*7973A=)
c.7913A= (p.Asp2638=)
c.7967A= (p.Asp2656=)
c.231-13088A=
c.7997A= (p.Asp2666=)
c.7892A= (p.Asp2631=)
c.7883A= (p.Asp2628=)
c.7844A= (p.Asp2615=)
c.7790A= (p.Asp2597=)
c.7694A= (p.Asp2565=)
c.7664A= (p.Asp2555=)
c.7589A= (p.Asp2530=)
c.7487A= (p.Asp2496=)
c.7118A= (p.Asp2373=)
5g.112843561A>CCA16038633APCc.8021A>C (p.Asp2674Ala)
c.*7973A>C (n.*7973A>C)
c.7913A>C (p.Asp2638Ala)
c.7967A>C (p.Asp2656Ala)
c.231-13088A>C
c.7997A>C (p.Asp2666Ala)
c.7892A>C (p.Asp2631Ala)
c.7883A>C (p.Asp2628Ala)
c.7844A>C (p.Asp2615Ala)
c.7790A>C (p.Asp2597Ala)
c.7694A>C (p.Asp2565Ala)
c.7664A>C (p.Asp2555Ala)
c.7589A>C (p.Asp2530Ala)
c.7487A>C (p.Asp2496Ala)
c.7118A>C (p.Asp2373Ala)
dbSNP gnomAD v3 gnomAD v4
5g.112843561A>GCA16038634APCc.8021A>G (p.Asp2674Gly)
c.*7973A>G (n.*7973A>G)
c.7913A>G (p.Asp2638Gly)
c.7967A>G (p.Asp2656Gly)
c.231-13088A>G
c.7997A>G (p.Asp2666Gly)
c.7892A>G (p.Asp2631Gly)
c.7883A>G (p.Asp2628Gly)
c.7844A>G (p.Asp2615Gly)
c.7790A>G (p.Asp2597Gly)
c.7694A>G (p.Asp2565Gly)
c.7664A>G (p.Asp2555Gly)
c.7589A>G (p.Asp2530Gly)
c.7487A>G (p.Asp2496Gly)
c.7118A>G (p.Asp2373Gly)
ClinVar dbSNP gnomAD v4
5g.112843561A>TCA16038635APCc.8021A>T (p.Asp2674Val)
c.*7973A>T (n.*7973A>T)
c.7913A>T (p.Asp2638Val)
c.7967A>T (p.Asp2656Val)
c.231-13088A>T
c.7997A>T (p.Asp2666Val)
c.7892A>T (p.Asp2631Val)
c.7883A>T (p.Asp2628Val)
c.7844A>T (p.Asp2615Val)
c.7790A>T (p.Asp2597Val)
c.7694A>T (p.Asp2565Val)
c.7664A>T (p.Asp2555Val)
c.7589A>T (p.Asp2530Val)
c.7487A>T (p.Asp2496Val)
c.7118A>T (p.Asp2373Val)
dbSNP
5g.112843562T>ACA16038636APCc.8022T>A (p.Asp2674Glu)
c.*7974T>A (n.*7974T>A)
c.7914T>A (p.Asp2638Glu)
c.7968T>A (p.Asp2656Glu)
c.231-13087T>A
c.7998T>A (p.Asp2666Glu)
c.7893T>A (p.Asp2631Glu)
c.7884T>A (p.Asp2628Glu)
c.7845T>A (p.Asp2615Glu)
c.7791T>A (p.Asp2597Glu)
c.7695T>A (p.Asp2565Glu)
c.7665T>A (p.Asp2555Glu)
c.7590T>A (p.Asp2530Glu)
c.7488T>A (p.Asp2496Glu)
c.7119T>A (p.Asp2373Glu)
ClinVar dbSNP
5g.112843562T>CCA446210989APCc.8022T>C (p.Asp2674=)
c.*7974T>C (n.*7974T>C)
c.7914T>C (p.Asp2638=)
c.7968T>C (p.Asp2656=)
c.231-13087T>C
c.7998T>C (p.Asp2666=)
c.7893T>C (p.Asp2631=)
c.7884T>C (p.Asp2628=)
c.7845T>C (p.Asp2615=)
c.7791T>C (p.Asp2597=)
c.7695T>C (p.Asp2565=)
c.7665T>C (p.Asp2555=)
c.7590T>C (p.Asp2530=)
c.7488T>C (p.Asp2496=)
c.7119T>C (p.Asp2373=)
ClinVar
5g.112843562T>GCA16038637APCc.8022T>G (p.Asp2674Glu)
c.*7974T>G (n.*7974T>G)
c.7914T>G (p.Asp2638Glu)
c.7968T>G (p.Asp2656Glu)
c.231-13087T>G
c.7998T>G (p.Asp2666Glu)
c.7893T>G (p.Asp2631Glu)
c.7884T>G (p.Asp2628Glu)
c.7845T>G (p.Asp2615Glu)
c.7791T>G (p.Asp2597Glu)
c.7695T>G (p.Asp2565Glu)
c.7665T>G (p.Asp2555Glu)
c.7590T>G (p.Asp2530Glu)
c.7488T>G (p.Asp2496Glu)
c.7119T>G (p.Asp2373Glu)
dbSNP
5g.112843562T=CA1573475162APCc.8022T= (p.Asp2674=)
c.*7974T= (n.*7974T=)
c.7914T= (p.Asp2638=)
c.7968T= (p.Asp2656=)
c.231-13087T=
c.7998T= (p.Asp2666=)
c.7893T= (p.Asp2631=)
c.7884T= (p.Asp2628=)
c.7845T= (p.Asp2615=)
c.7791T= (p.Asp2597=)
c.7695T= (p.Asp2565=)
c.7665T= (p.Asp2555=)
c.7590T= (p.Asp2530=)
c.7488T= (p.Asp2496=)
c.7119T= (p.Asp2373=)
5g.112843563G>ACA049543APCc.8023G>A (p.Val2675Ile)
c.*7975G>A (n.*7975G>A)
c.7915G>A (p.Val2639Ile)
c.7969G>A (p.Val2657Ile)
c.231-13086G>A
c.7999G>A (p.Val2667Ile)
c.7894G>A (p.Val2632Ile)
c.7885G>A (p.Val2629Ile)
c.7846G>A (p.Val2616Ile)
c.7792G>A (p.Val2598Ile)
c.7696G>A (p.Val2566Ile)
c.7666G>A (p.Val2556Ile)
c.7591G>A (p.Val2531Ile)
c.7489G>A (p.Val2497Ile)
c.7120G>A (p.Val2374Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843563G>CCA16038638APCc.8023G>C (p.Val2675Leu)
c.*7975G>C (n.*7975G>C)
c.7915G>C (p.Val2639Leu)
c.7969G>C (p.Val2657Leu)
c.231-13086G>C
c.7999G>C (p.Val2667Leu)
c.7894G>C (p.Val2632Leu)
c.7885G>C (p.Val2629Leu)
c.7846G>C (p.Val2616Leu)
c.7792G>C (p.Val2598Leu)
c.7696G>C (p.Val2566Leu)
c.7666G>C (p.Val2556Leu)
c.7591G>C (p.Val2531Leu)
c.7489G>C (p.Val2497Leu)
c.7120G>C (p.Val2374Leu)
5g.112843563G=CA1573475176APCc.8023G= (p.Val2675=)
c.*7975G= (n.*7975G=)
c.7915G= (p.Val2639=)
c.7969G= (p.Val2657=)
c.231-13086G=
c.7999G= (p.Val2667=)
c.7894G= (p.Val2632=)
c.7885G= (p.Val2629=)
c.7846G= (p.Val2616=)
c.7792G= (p.Val2598=)
c.7696G= (p.Val2566=)
c.7666G= (p.Val2556=)
c.7591G= (p.Val2531=)
c.7489G= (p.Val2497=)
c.7120G= (p.Val2374=)
5g.112843563G>TCA16038639APCc.8023G>T (p.Val2675Phe)
c.*7975G>T (n.*7975G>T)
c.7915G>T (p.Val2639Phe)
c.7969G>T (p.Val2657Phe)
c.231-13086G>T
c.7999G>T (p.Val2667Phe)
c.7894G>T (p.Val2632Phe)
c.7885G>T (p.Val2629Phe)
c.7846G>T (p.Val2616Phe)
c.7792G>T (p.Val2598Phe)
c.7696G>T (p.Val2566Phe)
c.7666G>T (p.Val2556Phe)
c.7591G>T (p.Val2531Phe)
c.7489G>T (p.Val2497Phe)
c.7120G>T (p.Val2374Phe)
5g.112843564T>ACA16038640APCc.8024T>A (p.Val2675Asp)
c.*7976T>A (n.*7976T>A)
c.7916T>A (p.Val2639Asp)
c.7970T>A (p.Val2657Asp)
c.231-13085T>A
c.8000T>A (p.Val2667Asp)
c.7895T>A (p.Val2632Asp)
c.7886T>A (p.Val2629Asp)
c.7847T>A (p.Val2616Asp)
c.7793T>A (p.Val2598Asp)
c.7697T>A (p.Val2566Asp)
c.7667T>A (p.Val2556Asp)
c.7592T>A (p.Val2531Asp)
c.7490T>A (p.Val2497Asp)
c.7121T>A (p.Val2374Asp)
dbSNP
5g.112843564T>CCA16038641APCc.8024T>C (p.Val2675Ala)
c.*7976T>C (n.*7976T>C)
c.7916T>C (p.Val2639Ala)
c.7970T>C (p.Val2657Ala)
c.231-13085T>C
c.8000T>C (p.Val2667Ala)
c.7895T>C (p.Val2632Ala)
c.7886T>C (p.Val2629Ala)
c.7847T>C (p.Val2616Ala)
c.7793T>C (p.Val2598Ala)
c.7697T>C (p.Val2566Ala)
c.7667T>C (p.Val2556Ala)
c.7592T>C (p.Val2531Ala)
c.7490T>C (p.Val2497Ala)
c.7121T>C (p.Val2374Ala)
dbSNP
5g.112843564T>GCA16038642APCc.8024T>G (p.Val2675Gly)
c.*7976T>G (n.*7976T>G)
c.7916T>G (p.Val2639Gly)
c.7970T>G (p.Val2657Gly)
c.231-13085T>G
c.8000T>G (p.Val2667Gly)
c.7895T>G (p.Val2632Gly)
c.7886T>G (p.Val2629Gly)
c.7847T>G (p.Val2616Gly)
c.7793T>G (p.Val2598Gly)
c.7697T>G (p.Val2566Gly)
c.7667T>G (p.Val2556Gly)
c.7592T>G (p.Val2531Gly)
c.7490T>G (p.Val2497Gly)
c.7121T>G (p.Val2374Gly)
dbSNP gnomAD v4
5g.112843565T>ACA446210991APCc.8025T>A (p.Val2675=)
c.*7977T>A (n.*7977T>A)
c.7917T>A (p.Val2639=)
c.7971T>A (p.Val2657=)
c.231-13084T>A
c.8001T>A (p.Val2667=)
c.7896T>A (p.Val2632=)
c.7887T>A (p.Val2629=)
c.7848T>A (p.Val2616=)
c.7794T>A (p.Val2598=)
c.7698T>A (p.Val2566=)
c.7668T>A (p.Val2556=)
c.7593T>A (p.Val2531=)
c.7491T>A (p.Val2497=)
c.7122T>A (p.Val2374=)
dbSNP
5g.112843565T>CCA446210992APCc.8025T>C (p.Val2675=)
c.*7977T>C (n.*7977T>C)
c.7917T>C (p.Val2639=)
c.7971T>C (p.Val2657=)
c.231-13084T>C
c.8001T>C (p.Val2667=)
c.7896T>C (p.Val2632=)
c.7887T>C (p.Val2629=)
c.7848T>C (p.Val2616=)
c.7794T>C (p.Val2598=)
c.7698T>C (p.Val2566=)
c.7668T>C (p.Val2556=)
c.7593T>C (p.Val2531=)
c.7491T>C (p.Val2497=)
c.7122T>C (p.Val2374=)
ClinVar dbSNP
5g.112843565T>GCA446210990APCc.8025T>G (p.Val2675=)
c.*7977T>G (n.*7977T>G)
c.7917T>G (p.Val2639=)
c.7971T>G (p.Val2657=)
c.231-13084T>G
c.8001T>G (p.Val2667=)
c.7896T>G (p.Val2632=)
c.7887T>G (p.Val2629=)
c.7848T>G (p.Val2616=)
c.7794T>G (p.Val2598=)
c.7698T>G (p.Val2566=)
c.7668T>G (p.Val2556=)
c.7593T>G (p.Val2531=)
c.7491T>G (p.Val2497=)
c.7122T>G (p.Val2374=)
dbSNP gnomAD v4
5g.112843566T>ACA16038643APCc.8026T>A (p.Trp2676Arg)
c.*7978T>A (n.*7978T>A)
c.7918T>A (p.Trp2640Arg)
c.7972T>A (p.Trp2658Arg)
c.231-13083T>A
c.8002T>A (p.Trp2668Arg)
c.7897T>A (p.Trp2633Arg)
c.7888T>A (p.Trp2630Arg)
c.7849T>A (p.Trp2617Arg)
c.7795T>A (p.Trp2599Arg)
c.7699T>A (p.Trp2567Arg)
c.7669T>A (p.Trp2557Arg)
c.7594T>A (p.Trp2532Arg)
c.7492T>A (p.Trp2498Arg)
c.7123T>A (p.Trp2375Arg)
5g.112843566T>CCA16038644APCc.8026T>C (p.Trp2676Arg)
c.*7978T>C (n.*7978T>C)
c.7918T>C (p.Trp2640Arg)
c.7972T>C (p.Trp2658Arg)
c.231-13083T>C
c.8002T>C (p.Trp2668Arg)
c.7897T>C (p.Trp2633Arg)
c.7888T>C (p.Trp2630Arg)
c.7849T>C (p.Trp2617Arg)
c.7795T>C (p.Trp2599Arg)
c.7699T>C (p.Trp2567Arg)
c.7669T>C (p.Trp2557Arg)
c.7594T>C (p.Trp2532Arg)
c.7492T>C (p.Trp2498Arg)
c.7123T>C (p.Trp2375Arg)
5g.112843566T>GCA16038645APCc.8026T>G (p.Trp2676Gly)
c.*7978T>G (n.*7978T>G)
c.7918T>G (p.Trp2640Gly)
c.7972T>G (p.Trp2658Gly)
c.231-13083T>G
c.8002T>G (p.Trp2668Gly)
c.7897T>G (p.Trp2633Gly)
c.7888T>G (p.Trp2630Gly)
c.7849T>G (p.Trp2617Gly)
c.7795T>G (p.Trp2599Gly)
c.7699T>G (p.Trp2567Gly)
c.7669T>G (p.Trp2557Gly)
c.7594T>G (p.Trp2532Gly)
c.7492T>G (p.Trp2498Gly)
c.7123T>G (p.Trp2375Gly)
5g.112843567G>ACA16038646APCc.8027G>A (p.Trp2676Ter)
c.*7979G>A (n.*7979G>A)
c.7919G>A (p.Trp2640Ter)
c.7973G>A (p.Trp2658Ter)
c.231-13082G>A
c.8003G>A (p.Trp2668Ter)
c.7898G>A (p.Trp2633Ter)
c.7889G>A (p.Trp2630Ter)
c.7850G>A (p.Trp2617Ter)
c.7796G>A (p.Trp2599Ter)
c.7700G>A (p.Trp2567Ter)
c.7670G>A (p.Trp2557Ter)
c.7595G>A (p.Trp2532Ter)
c.7493G>A (p.Trp2498Ter)
c.7124G>A (p.Trp2375Ter)
dbSNP
5g.112843567G>CCA16038647APCc.8027G>C (p.Trp2676Ser)
c.*7979G>C (n.*7979G>C)
c.7919G>C (p.Trp2640Ser)
c.7973G>C (p.Trp2658Ser)
c.231-13082G>C
c.8003G>C (p.Trp2668Ser)
c.7898G>C (p.Trp2633Ser)
c.7889G>C (p.Trp2630Ser)
c.7850G>C (p.Trp2617Ser)
c.7796G>C (p.Trp2599Ser)
c.7700G>C (p.Trp2567Ser)
c.7670G>C (p.Trp2557Ser)
c.7595G>C (p.Trp2532Ser)
c.7493G>C (p.Trp2498Ser)
c.7124G>C (p.Trp2375Ser)
dbSNP gnomAD v4
5g.112843567G=CA1573475187APCc.8027G= (p.Trp2676=)
c.*7979G= (n.*7979G=)
c.7919G= (p.Trp2640=)
c.7973G= (p.Trp2658=)
c.231-13082G=
c.8003G= (p.Trp2668=)
c.7898G= (p.Trp2633=)
c.7889G= (p.Trp2630=)
c.7850G= (p.Trp2617=)
c.7796G= (p.Trp2599=)
c.7700G= (p.Trp2567=)
c.7670G= (p.Trp2557=)
c.7595G= (p.Trp2532=)
c.7493G= (p.Trp2498=)
c.7124G= (p.Trp2375=)
5g.112843567G>TCA014213APCc.8027G>T (p.Trp2676Leu)
c.*7979G>T (n.*7979G>T)
c.7919G>T (p.Trp2640Leu)
c.7973G>T (p.Trp2658Leu)
c.231-13082G>T
c.8003G>T (p.Trp2668Leu)
c.7898G>T (p.Trp2633Leu)
c.7889G>T (p.Trp2630Leu)
c.7850G>T (p.Trp2617Leu)
c.7796G>T (p.Trp2599Leu)
c.7700G>T (p.Trp2567Leu)
c.7670G>T (p.Trp2557Leu)
c.7595G>T (p.Trp2532Leu)
c.7493G>T (p.Trp2498Leu)
c.7124G>T (p.Trp2375Leu)
ClinVar dbSNP
5g.112843568G>ACA16038648APCc.8028G>A (p.Trp2676Ter)
c.*7980G>A (n.*7980G>A)
c.7920G>A (p.Trp2640Ter)
c.7974G>A (p.Trp2658Ter)
c.231-13081G>A
c.8004G>A (p.Trp2668Ter)
c.7899G>A (p.Trp2633Ter)
c.7890G>A (p.Trp2630Ter)
c.7851G>A (p.Trp2617Ter)
c.7797G>A (p.Trp2599Ter)
c.7701G>A (p.Trp2567Ter)
c.7671G>A (p.Trp2557Ter)
c.7596G>A (p.Trp2532Ter)
c.7494G>A (p.Trp2498Ter)
c.7125G>A (p.Trp2375Ter)
dbSNP
5g.112843568G>CCA16038649APCc.8028G>C (p.Trp2676Cys)
c.*7980G>C (n.*7980G>C)
c.7920G>C (p.Trp2640Cys)
c.7974G>C (p.Trp2658Cys)
c.231-13081G>C
c.8004G>C (p.Trp2668Cys)
c.7899G>C (p.Trp2633Cys)
c.7890G>C (p.Trp2630Cys)
c.7851G>C (p.Trp2617Cys)
c.7797G>C (p.Trp2599Cys)
c.7701G>C (p.Trp2567Cys)
c.7671G>C (p.Trp2557Cys)
c.7596G>C (p.Trp2532Cys)
c.7494G>C (p.Trp2498Cys)
c.7125G>C (p.Trp2375Cys)
dbSNP
5g.112843568G>TCA16038650APCc.8028G>T (p.Trp2676Cys)
c.*7980G>T (n.*7980G>T)
c.7920G>T (p.Trp2640Cys)
c.7974G>T (p.Trp2658Cys)
c.231-13081G>T
c.8004G>T (p.Trp2668Cys)
c.7899G>T (p.Trp2633Cys)
c.7890G>T (p.Trp2630Cys)
c.7851G>T (p.Trp2617Cys)
c.7797G>T (p.Trp2599Cys)
c.7701G>T (p.Trp2567Cys)
c.7671G>T (p.Trp2557Cys)
c.7596G>T (p.Trp2532Cys)
c.7494G>T (p.Trp2498Cys)
c.7125G>T (p.Trp2375Cys)
dbSNP
5g.112843569G>ACA16038651APCc.8029G>A (p.Val2677Met)
c.*7981G>A (n.*7981G>A)
c.7921G>A (p.Val2641Met)
c.7975G>A (p.Val2659Met)
c.231-13080G>A
c.8005G>A (p.Val2669Met)
c.7900G>A (p.Val2634Met)
c.7891G>A (p.Val2631Met)
c.7852G>A (p.Val2618Met)
c.7798G>A (p.Val2600Met)
c.7702G>A (p.Val2568Met)
c.7672G>A (p.Val2558Met)
c.7597G>A (p.Val2533Met)
c.7495G>A (p.Val2499Met)
c.7126G>A (p.Val2376Met)
dbSNP
5g.112843569G>CCA16038652APCc.8029G>C (p.Val2677Leu)
c.*7981G>C (n.*7981G>C)
c.7921G>C (p.Val2641Leu)
c.7975G>C (p.Val2659Leu)
c.231-13080G>C
c.8005G>C (p.Val2669Leu)
c.7900G>C (p.Val2634Leu)
c.7891G>C (p.Val2631Leu)
c.7852G>C (p.Val2618Leu)
c.7798G>C (p.Val2600Leu)
c.7702G>C (p.Val2568Leu)
c.7672G>C (p.Val2558Leu)
c.7597G>C (p.Val2533Leu)
c.7495G>C (p.Val2499Leu)
c.7126G>C (p.Val2376Leu)
dbSNP
5g.112843569G>TCA16038653APCc.8029G>T (p.Val2677Leu)
c.*7981G>T (n.*7981G>T)
c.7921G>T (p.Val2641Leu)
c.7975G>T (p.Val2659Leu)
c.231-13080G>T
c.8005G>T (p.Val2669Leu)
c.7900G>T (p.Val2634Leu)
c.7891G>T (p.Val2631Leu)
c.7852G>T (p.Val2618Leu)
c.7798G>T (p.Val2600Leu)
c.7702G>T (p.Val2568Leu)
c.7672G>T (p.Val2558Leu)
c.7597G>T (p.Val2533Leu)
c.7495G>T (p.Val2499Leu)
c.7126G>T (p.Val2376Leu)
ClinVar dbSNP
5g.112843570T>ACA16038654APCc.8030T>A (p.Val2677Glu)
c.*7982T>A (n.*7982T>A)
c.7922T>A (p.Val2641Glu)
c.7976T>A (p.Val2659Glu)
c.231-13079T>A
c.8006T>A (p.Val2669Glu)
c.7901T>A (p.Val2634Glu)
c.7892T>A (p.Val2631Glu)
c.7853T>A (p.Val2618Glu)
c.7799T>A (p.Val2600Glu)
c.7703T>A (p.Val2568Glu)
c.7673T>A (p.Val2558Glu)
c.7598T>A (p.Val2533Glu)
c.7496T>A (p.Val2499Glu)
c.7127T>A (p.Val2376Glu)
dbSNP
5g.112843570T>CCA16038655APCc.8030T>C (p.Val2677Ala)
c.*7982T>C (n.*7982T>C)
c.7922T>C (p.Val2641Ala)
c.7976T>C (p.Val2659Ala)
c.231-13079T>C
c.8006T>C (p.Val2669Ala)
c.7901T>C (p.Val2634Ala)
c.7892T>C (p.Val2631Ala)
c.7853T>C (p.Val2618Ala)
c.7799T>C (p.Val2600Ala)
c.7703T>C (p.Val2568Ala)
c.7673T>C (p.Val2558Ala)
c.7598T>C (p.Val2533Ala)
c.7496T>C (p.Val2499Ala)
c.7127T>C (p.Val2376Ala)
5g.112843570T>GCA16038656APCc.8030T>G (p.Val2677Gly)
c.*7982T>G (n.*7982T>G)
c.7922T>G (p.Val2641Gly)
c.7976T>G (p.Val2659Gly)
c.231-13079T>G
c.8006T>G (p.Val2669Gly)
c.7901T>G (p.Val2634Gly)
c.7892T>G (p.Val2631Gly)
c.7853T>G (p.Val2618Gly)
c.7799T>G (p.Val2600Gly)
c.7703T>G (p.Val2568Gly)
c.7673T>G (p.Val2558Gly)
c.7598T>G (p.Val2533Gly)
c.7496T>G (p.Val2499Gly)
c.7127T>G (p.Val2376Gly)
dbSNP
5g.112843571G>ACA446210995APCc.8031G>A (p.Val2677=)
c.*7983G>A (n.*7983G>A)
c.7923G>A (p.Val2641=)
c.7977G>A (p.Val2659=)
c.231-13078G>A
c.8007G>A (p.Val2669=)
c.7902G>A (p.Val2634=)
c.7893G>A (p.Val2631=)
c.7854G>A (p.Val2618=)
c.7800G>A (p.Val2600=)
c.7704G>A (p.Val2568=)
c.7674G>A (p.Val2558=)
c.7599G>A (p.Val2533=)
c.7497G>A (p.Val2499=)
c.7128G>A (p.Val2376=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843571G>CCA446210994APCc.8031G>C (p.Val2677=)
c.*7983G>C (n.*7983G>C)
c.7923G>C (p.Val2641=)
c.7977G>C (p.Val2659=)
c.231-13078G>C
c.8007G>C (p.Val2669=)
c.7902G>C (p.Val2634=)
c.7893G>C (p.Val2631=)
c.7854G>C (p.Val2618=)
c.7800G>C (p.Val2600=)
c.7704G>C (p.Val2568=)
c.7674G>C (p.Val2558=)
c.7599G>C (p.Val2533=)
c.7497G>C (p.Val2499=)
c.7128G>C (p.Val2376=)
ClinVar dbSNP
5g.112843571G=CA1573475199APCc.8031G= (p.Val2677=)
c.*7983G= (n.*7983G=)
c.7923G= (p.Val2641=)
c.7977G= (p.Val2659=)
c.231-13078G=
c.8007G= (p.Val2669=)
c.7902G= (p.Val2634=)
c.7893G= (p.Val2631=)
c.7854G= (p.Val2618=)
c.7800G= (p.Val2600=)
c.7704G= (p.Val2568=)
c.7674G= (p.Val2558=)
c.7599G= (p.Val2533=)
c.7497G= (p.Val2499=)
c.7128G= (p.Val2376=)
5g.112843571G>TCA446210993APCc.8031G>T (p.Val2677=)
c.*7983G>T (n.*7983G>T)
c.7923G>T (p.Val2641=)
c.7977G>T (p.Val2659=)
c.231-13078G>T
c.8007G>T (p.Val2669=)
c.7902G>T (p.Val2634=)
c.7893G>T (p.Val2631=)
c.7854G>T (p.Val2618=)
c.7800G>T (p.Val2600=)
c.7704G>T (p.Val2568=)
c.7674G>T (p.Val2558=)
c.7599G>T (p.Val2533=)
c.7497G>T (p.Val2499=)
c.7128G>T (p.Val2376=)
5g.112843572A>CCA446210996APCc.8032A>C (p.Arg2678=)
c.*7984A>C (n.*7984A>C)
c.7924A>C (p.Arg2642=)
c.7978A>C (p.Arg2660=)
c.231-13077A>C
c.8008A>C (p.Arg2670=)
c.7903A>C (p.Arg2635=)
c.7894A>C (p.Arg2632=)
c.7855A>C (p.Arg2619=)
c.7801A>C (p.Arg2601=)
c.7705A>C (p.Arg2569=)
c.7675A>C (p.Arg2559=)
c.7600A>C (p.Arg2534=)
c.7498A>C (p.Arg2500=)
c.7129A>C (p.Arg2377=)
5g.112843572A>GCA16038657APCc.8032A>G (p.Arg2678Gly)
c.*7984A>G (n.*7984A>G)
c.7924A>G (p.Arg2642Gly)
c.7978A>G (p.Arg2660Gly)
c.231-13077A>G
c.8008A>G (p.Arg2670Gly)
c.7903A>G (p.Arg2635Gly)
c.7894A>G (p.Arg2632Gly)
c.7855A>G (p.Arg2619Gly)
c.7801A>G (p.Arg2601Gly)
c.7705A>G (p.Arg2569Gly)
c.7675A>G (p.Arg2559Gly)
c.7600A>G (p.Arg2534Gly)
c.7498A>G (p.Arg2500Gly)
c.7129A>G (p.Arg2377Gly)
dbSNP
5g.112843572A>TCA16038658APCc.8032A>T (p.Arg2678Ter)
c.*7984A>T (n.*7984A>T)
c.7924A>T (p.Arg2642Ter)
c.7978A>T (p.Arg2660Ter)
c.231-13077A>T
c.8008A>T (p.Arg2670Ter)
c.7903A>T (p.Arg2635Ter)
c.7894A>T (p.Arg2632Ter)
c.7855A>T (p.Arg2619Ter)
c.7801A>T (p.Arg2601Ter)
c.7705A>T (p.Arg2569Ter)
c.7675A>T (p.Arg2559Ter)
c.7600A>T (p.Arg2534Ter)
c.7498A>T (p.Arg2500Ter)
c.7129A>T (p.Arg2377Ter)
dbSNP
5g.112843573G>ACA337404APCc.8033G>A (p.Arg2678Lys)
c.*7985G>A (n.*7985G>A)
c.7925G>A (p.Arg2642Lys)
c.7979G>A (p.Arg2660Lys)
c.231-13076G>A
c.8009G>A (p.Arg2670Lys)
c.7904G>A (p.Arg2635Lys)
c.7895G>A (p.Arg2632Lys)
c.7856G>A (p.Arg2619Lys)
c.7802G>A (p.Arg2601Lys)
c.7706G>A (p.Arg2569Lys)
c.7676G>A (p.Arg2559Lys)
c.7601G>A (p.Arg2534Lys)
c.7499G>A (p.Arg2500Lys)
c.7130G>A (p.Arg2377Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843573G>CCA16038659APCc.8033G>C (p.Arg2678Thr)
c.*7985G>C (n.*7985G>C)
c.7925G>C (p.Arg2642Thr)
c.7979G>C (p.Arg2660Thr)
c.231-13076G>C
c.8009G>C (p.Arg2670Thr)
c.7904G>C (p.Arg2635Thr)
c.7895G>C (p.Arg2632Thr)
c.7856G>C (p.Arg2619Thr)
c.7802G>C (p.Arg2601Thr)
c.7706G>C (p.Arg2569Thr)
c.7676G>C (p.Arg2559Thr)
c.7601G>C (p.Arg2534Thr)
c.7499G>C (p.Arg2500Thr)
c.7130G>C (p.Arg2377Thr)
dbSNP
5g.112843573G=CA1573475221APCc.8033G= (p.Arg2678=)
c.*7985G= (n.*7985G=)
c.7925G= (p.Arg2642=)
c.7979G= (p.Arg2660=)
c.231-13076G=
c.8009G= (p.Arg2670=)
c.7904G= (p.Arg2635=)
c.7895G= (p.Arg2632=)
c.7856G= (p.Arg2619=)
c.7802G= (p.Arg2601=)
c.7706G= (p.Arg2569=)
c.7676G= (p.Arg2559=)
c.7601G= (p.Arg2534=)
c.7499G= (p.Arg2500=)
c.7130G= (p.Arg2377=)
5g.112843573G>TCA049562APCc.8033G>T (p.Arg2678Ile)
c.*7985G>T (n.*7985G>T)
c.7925G>T (p.Arg2642Ile)
c.7979G>T (p.Arg2660Ile)
c.231-13076G>T
c.8009G>T (p.Arg2670Ile)
c.7904G>T (p.Arg2635Ile)
c.7895G>T (p.Arg2632Ile)
c.7856G>T (p.Arg2619Ile)
c.7802G>T (p.Arg2601Ile)
c.7706G>T (p.Arg2569Ile)
c.7676G>T (p.Arg2559Ile)
c.7601G>T (p.Arg2534Ile)
c.7499G>T (p.Arg2500Ile)
c.7130G>T (p.Arg2377Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843574A>CCA16038660APCc.8034A>C (p.Arg2678Ser)
c.*7986A>C (n.*7986A>C)
c.7926A>C (p.Arg2642Ser)
c.7980A>C (p.Arg2660Ser)
c.231-13075A>C
c.8010A>C (p.Arg2670Ser)
c.7905A>C (p.Arg2635Ser)
c.7896A>C (p.Arg2632Ser)
c.7857A>C (p.Arg2619Ser)
c.7803A>C (p.Arg2601Ser)
c.7707A>C (p.Arg2569Ser)
c.7677A>C (p.Arg2559Ser)
c.7602A>C (p.Arg2534Ser)
c.7500A>C (p.Arg2500Ser)
c.7131A>C (p.Arg2377Ser)
5g.112843574A>GCA446210997APCc.8034A>G (p.Arg2678=)
c.*7986A>G (n.*7986A>G)
c.7926A>G (p.Arg2642=)
c.7980A>G (p.Arg2660=)
c.231-13075A>G
c.8010A>G (p.Arg2670=)
c.7905A>G (p.Arg2635=)
c.7896A>G (p.Arg2632=)
c.7857A>G (p.Arg2619=)
c.7803A>G (p.Arg2601=)
c.7707A>G (p.Arg2569=)
c.7677A>G (p.Arg2559=)
c.7602A>G (p.Arg2534=)
c.7500A>G (p.Arg2500=)
c.7131A>G (p.Arg2377=)
ClinVar dbSNP
5g.112843574A>TCA16038661APCc.8034A>T (p.Arg2678Ser)
c.*7986A>T (n.*7986A>T)
c.7926A>T (p.Arg2642Ser)
c.7980A>T (p.Arg2660Ser)
c.231-13075A>T
c.8010A>T (p.Arg2670Ser)
c.7905A>T (p.Arg2635Ser)
c.7896A>T (p.Arg2632Ser)
c.7857A>T (p.Arg2619Ser)
c.7803A>T (p.Arg2601Ser)
c.7707A>T (p.Arg2569Ser)
c.7677A>T (p.Arg2559Ser)
c.7602A>T (p.Arg2534Ser)
c.7500A>T (p.Arg2500Ser)
c.7131A>T (p.Arg2377Ser)
dbSNP
5g.112843575A>CCA16038662APCc.8035A>C (p.Ile2679Leu)
c.*7987A>C (n.*7987A>C)
c.7927A>C (p.Ile2643Leu)
c.7981A>C (p.Ile2661Leu)
c.231-13074A>C
c.8011A>C (p.Ile2671Leu)
c.7906A>C (p.Ile2636Leu)
c.7897A>C (p.Ile2633Leu)
c.7858A>C (p.Ile2620Leu)
c.7804A>C (p.Ile2602Leu)
c.7708A>C (p.Ile2570Leu)
c.7678A>C (p.Ile2560Leu)
c.7603A>C (p.Ile2535Leu)
c.7501A>C (p.Ile2501Leu)
c.7132A>C (p.Ile2378Leu)
5g.112843575A>GCA16038663APCc.8035A>G (p.Ile2679Val)
c.*7987A>G (n.*7987A>G)
c.7927A>G (p.Ile2643Val)
c.7981A>G (p.Ile2661Val)
c.231-13074A>G
c.8011A>G (p.Ile2671Val)
c.7906A>G (p.Ile2636Val)
c.7897A>G (p.Ile2633Val)
c.7858A>G (p.Ile2620Val)
c.7804A>G (p.Ile2602Val)
c.7708A>G (p.Ile2570Val)
c.7678A>G (p.Ile2560Val)
c.7603A>G (p.Ile2535Val)
c.7501A>G (p.Ile2501Val)
c.7132A>G (p.Ile2378Val)
ClinVar
5g.112843575A>TCA16038664APCc.8035A>T (p.Ile2679Phe)
c.*7987A>T (n.*7987A>T)
c.7927A>T (p.Ile2643Phe)
c.7981A>T (p.Ile2661Phe)
c.231-13074A>T
c.8011A>T (p.Ile2671Phe)
c.7906A>T (p.Ile2636Phe)
c.7897A>T (p.Ile2633Phe)
c.7858A>T (p.Ile2620Phe)
c.7804A>T (p.Ile2602Phe)
c.7708A>T (p.Ile2570Phe)
c.7678A>T (p.Ile2560Phe)
c.7603A>T (p.Ile2535Phe)
c.7501A>T (p.Ile2501Phe)
c.7132A>T (p.Ile2378Phe)
dbSNP
5g.112843576T>ACA16038665APCc.8036T>A (p.Ile2679Asn)
c.*7988T>A (n.*7988T>A)
c.7928T>A (p.Ile2643Asn)
c.7982T>A (p.Ile2661Asn)
c.231-13073T>A
c.8012T>A (p.Ile2671Asn)
c.7907T>A (p.Ile2636Asn)
c.7898T>A (p.Ile2633Asn)
c.7859T>A (p.Ile2620Asn)
c.7805T>A (p.Ile2602Asn)
c.7709T>A (p.Ile2570Asn)
c.7679T>A (p.Ile2560Asn)
c.7604T>A (p.Ile2535Asn)
c.7502T>A (p.Ile2501Asn)
c.7133T>A (p.Ile2378Asn)
dbSNP
5g.112843576T>CCA16038666APCc.8036T>C (p.Ile2679Thr)
c.*7988T>C (n.*7988T>C)
c.7928T>C (p.Ile2643Thr)
c.7982T>C (p.Ile2661Thr)
c.231-13073T>C
c.8012T>C (p.Ile2671Thr)
c.7907T>C (p.Ile2636Thr)
c.7898T>C (p.Ile2633Thr)
c.7859T>C (p.Ile2620Thr)
c.7805T>C (p.Ile2602Thr)
c.7709T>C (p.Ile2570Thr)
c.7679T>C (p.Ile2560Thr)
c.7604T>C (p.Ile2535Thr)
c.7502T>C (p.Ile2501Thr)
c.7133T>C (p.Ile2378Thr)
ClinVar dbSNP
5g.112843576T>GCA16038667APCc.8036T>G (p.Ile2679Ser)
c.*7988T>G (n.*7988T>G)
c.7928T>G (p.Ile2643Ser)
c.7982T>G (p.Ile2661Ser)
c.231-13073T>G
c.8012T>G (p.Ile2671Ser)
c.7907T>G (p.Ile2636Ser)
c.7898T>G (p.Ile2633Ser)
c.7859T>G (p.Ile2620Ser)
c.7805T>G (p.Ile2602Ser)
c.7709T>G (p.Ile2570Ser)
c.7679T>G (p.Ile2560Ser)
c.7604T>G (p.Ile2535Ser)
c.7502T>G (p.Ile2501Ser)
c.7133T>G (p.Ile2378Ser)
dbSNP
5g.112843577T>ACA446210998APCc.8037T>A (p.Ile2679=)
c.*7989T>A (n.*7989T>A)
c.7929T>A (p.Ile2643=)
c.7983T>A (p.Ile2661=)
c.231-13072T>A
c.8013T>A (p.Ile2671=)
c.7908T>A (p.Ile2636=)
c.7899T>A (p.Ile2633=)
c.7860T>A (p.Ile2620=)
c.7806T>A (p.Ile2602=)
c.7710T>A (p.Ile2570=)
c.7680T>A (p.Ile2560=)
c.7605T>A (p.Ile2535=)
c.7503T>A (p.Ile2501=)
c.7134T>A (p.Ile2378=)
dbSNP
5g.112843577T>CCA446210999APCc.8037T>C (p.Ile2679=)
c.*7989T>C (n.*7989T>C)
c.7929T>C (p.Ile2643=)
c.7983T>C (p.Ile2661=)
c.231-13072T>C
c.8013T>C (p.Ile2671=)
c.7908T>C (p.Ile2636=)
c.7899T>C (p.Ile2633=)
c.7860T>C (p.Ile2620=)
c.7806T>C (p.Ile2602=)
c.7710T>C (p.Ile2570=)
c.7680T>C (p.Ile2560=)
c.7605T>C (p.Ile2535=)
c.7503T>C (p.Ile2501=)
c.7134T>C (p.Ile2378=)
ClinVar dbSNP COSMIC
5g.112843577T>GCA16038668APCc.8037T>G (p.Ile2679Met)
c.*7989T>G (n.*7989T>G)
c.7929T>G (p.Ile2643Met)
c.7983T>G (p.Ile2661Met)
c.231-13072T>G
c.8013T>G (p.Ile2671Met)
c.7908T>G (p.Ile2636Met)
c.7899T>G (p.Ile2633Met)
c.7860T>G (p.Ile2620Met)
c.7806T>G (p.Ile2602Met)
c.7710T>G (p.Ile2570Met)
c.7680T>G (p.Ile2560Met)
c.7605T>G (p.Ile2535Met)
c.7503T>G (p.Ile2501Met)
c.7134T>G (p.Ile2378Met)
ClinVar
5g.112843578G>ACA16038669APCc.8038G>A (p.Glu2680Lys)
c.*7990G>A (n.*7990G>A)
c.7930G>A (p.Glu2644Lys)
c.7984G>A (p.Glu2662Lys)
c.231-13071G>A
c.8014G>A (p.Glu2672Lys)
c.7909G>A (p.Glu2637Lys)
c.7900G>A (p.Glu2634Lys)
c.7861G>A (p.Glu2621Lys)
c.7807G>A (p.Glu2603Lys)
c.7711G>A (p.Glu2571Lys)
c.7681G>A (p.Glu2561Lys)
c.7606G>A (p.Glu2536Lys)
c.7504G>A (p.Glu2502Lys)
c.7135G>A (p.Glu2379Lys)
dbSNP
5g.112843578G>CCA16038670APCc.8038G>C (p.Glu2680Gln)
c.*7990G>C (n.*7990G>C)
c.7930G>C (p.Glu2644Gln)
c.7984G>C (p.Glu2662Gln)
c.231-13071G>C
c.8014G>C (p.Glu2672Gln)
c.7909G>C (p.Glu2637Gln)
c.7900G>C (p.Glu2634Gln)
c.7861G>C (p.Glu2621Gln)
c.7807G>C (p.Glu2603Gln)
c.7711G>C (p.Glu2571Gln)
c.7681G>C (p.Glu2561Gln)
c.7606G>C (p.Glu2536Gln)
c.7504G>C (p.Glu2502Gln)
c.7135G>C (p.Glu2379Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843578G=CA1573475228APCc.8038G= (p.Glu2680=)
c.*7990G= (n.*7990G=)
c.7930G= (p.Glu2644=)
c.7984G= (p.Glu2662=)
c.231-13071G=
c.8014G= (p.Glu2672=)
c.7909G= (p.Glu2637=)
c.7900G= (p.Glu2634=)
c.7861G= (p.Glu2621=)
c.7807G= (p.Glu2603=)
c.7711G= (p.Glu2571=)
c.7681G= (p.Glu2561=)
c.7606G= (p.Glu2536=)
c.7504G= (p.Glu2502=)
c.7135G= (p.Glu2379=)
5g.112843578G>TCA16038671APCc.8038G>T (p.Glu2680Ter)
c.*7990G>T (n.*7990G>T)
c.7930G>T (p.Glu2644Ter)
c.7984G>T (p.Glu2662Ter)
c.231-13071G>T
c.8014G>T (p.Glu2672Ter)
c.7909G>T (p.Glu2637Ter)
c.7900G>T (p.Glu2634Ter)
c.7861G>T (p.Glu2621Ter)
c.7807G>T (p.Glu2603Ter)
c.7711G>T (p.Glu2571Ter)
c.7681G>T (p.Glu2561Ter)
c.7606G>T (p.Glu2536Ter)
c.7504G>T (p.Glu2502Ter)
c.7135G>T (p.Glu2379Ter)
dbSNP
5g.112843579A>CCA16038672APCc.8039A>C (p.Glu2680Ala)
c.*7991A>C (n.*7991A>C)
c.7931A>C (p.Glu2644Ala)
c.7985A>C (p.Glu2662Ala)
c.231-13070A>C
c.8015A>C (p.Glu2672Ala)
c.7910A>C (p.Glu2637Ala)
c.7901A>C (p.Glu2634Ala)
c.7862A>C (p.Glu2621Ala)
c.7808A>C (p.Glu2603Ala)
c.7712A>C (p.Glu2571Ala)
c.7682A>C (p.Glu2561Ala)
c.7607A>C (p.Glu2536Ala)
c.7505A>C (p.Glu2502Ala)
c.7136A>C (p.Glu2379Ala)
5g.112843579A>GCA16038673APCc.8039A>G (p.Glu2680Gly)
c.*7991A>G (n.*7991A>G)
c.7931A>G (p.Glu2644Gly)
c.7985A>G (p.Glu2662Gly)
c.231-13070A>G
c.8015A>G (p.Glu2672Gly)
c.7910A>G (p.Glu2637Gly)
c.7901A>G (p.Glu2634Gly)
c.7862A>G (p.Glu2621Gly)
c.7808A>G (p.Glu2603Gly)
c.7712A>G (p.Glu2571Gly)
c.7682A>G (p.Glu2561Gly)
c.7607A>G (p.Glu2536Gly)
c.7505A>G (p.Glu2502Gly)
c.7136A>G (p.Glu2379Gly)
dbSNP
5g.112843579A>TCA16038674APCc.8039A>T (p.Glu2680Val)
c.*7991A>T (n.*7991A>T)
c.7931A>T (p.Glu2644Val)
c.7985A>T (p.Glu2662Val)
c.231-13070A>T
c.8015A>T (p.Glu2672Val)
c.7910A>T (p.Glu2637Val)
c.7901A>T (p.Glu2634Val)
c.7862A>T (p.Glu2621Val)
c.7808A>T (p.Glu2603Val)
c.7712A>T (p.Glu2571Val)
c.7682A>T (p.Glu2561Val)
c.7607A>T (p.Glu2536Val)
c.7505A>T (p.Glu2502Val)
c.7136A>T (p.Glu2379Val)
ClinVar dbSNP gnomAD v4
5g.112843580G>ACA014222APCc.8040G>A (p.Glu2680=)
c.*7992G>A (n.*7992G>A)
c.7932G>A (p.Glu2644=)
c.7986G>A (p.Glu2662=)
c.231-13069G>A
c.8016G>A (p.Glu2672=)
c.7911G>A (p.Glu2637=)
c.7902G>A (p.Glu2634=)
c.7863G>A (p.Glu2621=)
c.7809G>A (p.Glu2603=)
c.7713G>A (p.Glu2571=)
c.7683G>A (p.Glu2561=)
c.7608G>A (p.Glu2536=)
c.7506G>A (p.Glu2502=)
c.7137G>A (p.Glu2379=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843580G>CCA16038675APCc.8040G>C (p.Glu2680Asp)
c.*7992G>C (n.*7992G>C)
c.7932G>C (p.Glu2644Asp)
c.7986G>C (p.Glu2662Asp)
c.231-13069G>C
c.8016G>C (p.Glu2672Asp)
c.7911G>C (p.Glu2637Asp)
c.7902G>C (p.Glu2634Asp)
c.7863G>C (p.Glu2621Asp)
c.7809G>C (p.Glu2603Asp)
c.7713G>C (p.Glu2571Asp)
c.7683G>C (p.Glu2561Asp)
c.7608G>C (p.Glu2536Asp)
c.7506G>C (p.Glu2502Asp)
c.7137G>C (p.Glu2379Asp)
dbSNP
5g.112843580G=CA1573475238APCc.8040G= (p.Glu2680=)
c.*7992G= (n.*7992G=)
c.7932G= (p.Glu2644=)
c.7986G= (p.Glu2662=)
c.231-13069G=
c.8016G= (p.Glu2672=)
c.7911G= (p.Glu2637=)
c.7902G= (p.Glu2634=)
c.7863G= (p.Glu2621=)
c.7809G= (p.Glu2603=)
c.7713G= (p.Glu2571=)
c.7683G= (p.Glu2561=)
c.7608G= (p.Glu2536=)
c.7506G= (p.Glu2502=)
c.7137G= (p.Glu2379=)
5g.112843580G>TCA16038676APCc.8040G>T (p.Glu2680Asp)
c.*7992G>T (n.*7992G>T)
c.7932G>T (p.Glu2644Asp)
c.7986G>T (p.Glu2662Asp)
c.231-13069G>T
c.8016G>T (p.Glu2672Asp)
c.7911G>T (p.Glu2637Asp)
c.7902G>T (p.Glu2634Asp)
c.7863G>T (p.Glu2621Asp)
c.7809G>T (p.Glu2603Asp)
c.7713G>T (p.Glu2571Asp)
c.7683G>T (p.Glu2561Asp)
c.7608G>T (p.Glu2536Asp)
c.7506G>T (p.Glu2502Asp)
c.7137G>T (p.Glu2379Asp)
dbSNP
5g.112843581G>ACA16038677APCc.8041G>A (p.Asp2681Asn)
c.*7993G>A (n.*7993G>A)
c.7933G>A (p.Asp2645Asn)
c.7987G>A (p.Asp2663Asn)
c.231-13068G>A
c.8017G>A (p.Asp2673Asn)
c.7912G>A (p.Asp2638Asn)
c.7903G>A (p.Asp2635Asn)
c.7864G>A (p.Asp2622Asn)
c.7810G>A (p.Asp2604Asn)
c.7714G>A (p.Asp2572Asn)
c.7684G>A (p.Asp2562Asn)
c.7609G>A (p.Asp2537Asn)
c.7507G>A (p.Asp2503Asn)
c.7138G>A (p.Asp2380Asn)
ClinVar dbSNP
5g.112843581G>CCA16038678APCc.8041G>C (p.Asp2681His)
c.*7993G>C (n.*7993G>C)
c.7933G>C (p.Asp2645His)
c.7987G>C (p.Asp2663His)
c.231-13068G>C
c.8017G>C (p.Asp2673His)
c.7912G>C (p.Asp2638His)
c.7903G>C (p.Asp2635His)
c.7864G>C (p.Asp2622His)
c.7810G>C (p.Asp2604His)
c.7714G>C (p.Asp2572His)
c.7684G>C (p.Asp2562His)
c.7609G>C (p.Asp2537His)
c.7507G>C (p.Asp2503His)
c.7138G>C (p.Asp2380His)
dbSNP
5g.112843581G=CA1573475249APCc.8041G= (p.Asp2681=)
c.*7993G= (n.*7993G=)
c.7933G= (p.Asp2645=)
c.7987G= (p.Asp2663=)
c.231-13068G=
c.8017G= (p.Asp2673=)
c.7912G= (p.Asp2638=)
c.7903G= (p.Asp2635=)
c.7864G= (p.Asp2622=)
c.7810G= (p.Asp2604=)
c.7714G= (p.Asp2572=)
c.7684G= (p.Asp2562=)
c.7609G= (p.Asp2537=)
c.7507G= (p.Asp2503=)
c.7138G= (p.Asp2380=)
5g.112843581G>TCA16038679APCc.8041G>T (p.Asp2681Tyr)
c.*7993G>T (n.*7993G>T)
c.7933G>T (p.Asp2645Tyr)
c.7987G>T (p.Asp2663Tyr)
c.231-13068G>T
c.8017G>T (p.Asp2673Tyr)
c.7912G>T (p.Asp2638Tyr)
c.7903G>T (p.Asp2635Tyr)
c.7864G>T (p.Asp2622Tyr)
c.7810G>T (p.Asp2604Tyr)
c.7714G>T (p.Asp2572Tyr)
c.7684G>T (p.Asp2562Tyr)
c.7609G>T (p.Asp2537Tyr)
c.7507G>T (p.Asp2503Tyr)
c.7138G>T (p.Asp2380Tyr)
ClinVar dbSNP
5g.112843582A=CA1573475252APCc.8042A= (p.Asp2681=)
c.*7994A= (n.*7994A=)
c.7934A= (p.Asp2645=)
c.7988A= (p.Asp2663=)
c.231-13067A=
c.8018A= (p.Asp2673=)
c.7913A= (p.Asp2638=)
c.7904A= (p.Asp2635=)
c.7865A= (p.Asp2622=)
c.7811A= (p.Asp2604=)
c.7715A= (p.Asp2572=)
c.7685A= (p.Asp2562=)
c.7610A= (p.Asp2537=)
c.7508A= (p.Asp2503=)
c.7139A= (p.Asp2380=)
5g.112843582A>CCA16038680APCc.8042A>C (p.Asp2681Ala)
c.*7994A>C (n.*7994A>C)
c.7934A>C (p.Asp2645Ala)
c.7988A>C (p.Asp2663Ala)
c.231-13067A>C
c.8018A>C (p.Asp2673Ala)
c.7913A>C (p.Asp2638Ala)
c.7904A>C (p.Asp2635Ala)
c.7865A>C (p.Asp2622Ala)
c.7811A>C (p.Asp2604Ala)
c.7715A>C (p.Asp2572Ala)
c.7685A>C (p.Asp2562Ala)
c.7610A>C (p.Asp2537Ala)
c.7508A>C (p.Asp2503Ala)
c.7139A>C (p.Asp2380Ala)
5g.112843582A>GCA16038681APCc.8042A>G (p.Asp2681Gly)
c.*7994A>G (n.*7994A>G)
c.7934A>G (p.Asp2645Gly)
c.7988A>G (p.Asp2663Gly)
c.231-13067A>G
c.8018A>G (p.Asp2673Gly)
c.7913A>G (p.Asp2638Gly)
c.7904A>G (p.Asp2635Gly)
c.7865A>G (p.Asp2622Gly)
c.7811A>G (p.Asp2604Gly)
c.7715A>G (p.Asp2572Gly)
c.7685A>G (p.Asp2562Gly)
c.7610A>G (p.Asp2537Gly)
c.7508A>G (p.Asp2503Gly)
c.7139A>G (p.Asp2380Gly)
ClinVar dbSNP gnomAD v4
5g.112843582A>TCA16038682APCc.8042A>T (p.Asp2681Val)
c.*7994A>T (n.*7994A>T)
c.7934A>T (p.Asp2645Val)
c.7988A>T (p.Asp2663Val)
c.231-13067A>T
c.8018A>T (p.Asp2673Val)
c.7913A>T (p.Asp2638Val)
c.7904A>T (p.Asp2635Val)
c.7865A>T (p.Asp2622Val)
c.7811A>T (p.Asp2604Val)
c.7715A>T (p.Asp2572Val)
c.7685A>T (p.Asp2562Val)
c.7610A>T (p.Asp2537Val)
c.7508A>T (p.Asp2503Val)
c.7139A>T (p.Asp2380Val)
dbSNP
5g.112843583C>ACA16038683APCc.8043C>A (p.Asp2681Glu)
c.*7995C>A (n.*7995C>A)
c.7935C>A (p.Asp2645Glu)
c.7989C>A (p.Asp2663Glu)
c.231-13066C>A
c.8019C>A (p.Asp2673Glu)
c.7914C>A (p.Asp2638Glu)
c.7905C>A (p.Asp2635Glu)
c.7866C>A (p.Asp2622Glu)
c.7812C>A (p.Asp2604Glu)
c.7716C>A (p.Asp2572Glu)
c.7686C>A (p.Asp2562Glu)
c.7611C>A (p.Asp2537Glu)
c.7509C>A (p.Asp2503Glu)
c.7140C>A (p.Asp2380Glu)
dbSNP
5g.112843583C=CA1573475261APCc.8043C= (p.Asp2681=)
c.*7995C= (n.*7995C=)
c.7935C= (p.Asp2645=)
c.7989C= (p.Asp2663=)
c.231-13066C=
c.8019C= (p.Asp2673=)
c.7914C= (p.Asp2638=)
c.7905C= (p.Asp2635=)
c.7866C= (p.Asp2622=)
c.7812C= (p.Asp2604=)
c.7716C= (p.Asp2572=)
c.7686C= (p.Asp2562=)
c.7611C= (p.Asp2537=)
c.7509C= (p.Asp2503=)
c.7140C= (p.Asp2380=)
5g.112843583C>GCA16038684APCc.8043C>G (p.Asp2681Glu)
c.*7995C>G (n.*7995C>G)
c.7935C>G (p.Asp2645Glu)
c.7989C>G (p.Asp2663Glu)
c.231-13066C>G
c.8019C>G (p.Asp2673Glu)
c.7914C>G (p.Asp2638Glu)
c.7905C>G (p.Asp2635Glu)
c.7866C>G (p.Asp2622Glu)
c.7812C>G (p.Asp2604Glu)
c.7716C>G (p.Asp2572Glu)
c.7686C>G (p.Asp2562Glu)
c.7611C>G (p.Asp2537Glu)
c.7509C>G (p.Asp2503Glu)
c.7140C>G (p.Asp2380Glu)
ClinVar dbSNP
5g.112843583C>TCA446211000APCc.8043C>T (p.Asp2681=)
c.*7995C>T (n.*7995C>T)
c.7935C>T (p.Asp2645=)
c.7989C>T (p.Asp2663=)
c.231-13066C>T
c.8019C>T (p.Asp2673=)
c.7914C>T (p.Asp2638=)
c.7905C>T (p.Asp2635=)
c.7866C>T (p.Asp2622=)
c.7812C>T (p.Asp2604=)
c.7716C>T (p.Asp2572=)
c.7686C>T (p.Asp2562=)
c.7611C>T (p.Asp2537=)
c.7509C>T (p.Asp2503=)
c.7140C>T (p.Asp2380=)
ClinVar dbSNP
5g.112843584T>ACA16038685APCc.8044T>A (p.Cys2682Ser)
c.*7996T>A (n.*7996T>A)
c.7936T>A (p.Cys2646Ser)
c.7990T>A (p.Cys2664Ser)
c.231-13065T>A
c.8020T>A (p.Cys2674Ser)
c.7915T>A (p.Cys2639Ser)
c.7906T>A (p.Cys2636Ser)
c.7867T>A (p.Cys2623Ser)
c.7813T>A (p.Cys2605Ser)
c.7717T>A (p.Cys2573Ser)
c.7687T>A (p.Cys2563Ser)
c.7612T>A (p.Cys2538Ser)
c.7510T>A (p.Cys2504Ser)
c.7141T>A (p.Cys2381Ser)
dbSNP
5g.112843584T>CCA16038686APCc.8044T>C (p.Cys2682Arg)
c.*7996T>C (n.*7996T>C)
c.7936T>C (p.Cys2646Arg)
c.7990T>C (p.Cys2664Arg)
c.231-13065T>C
c.8020T>C (p.Cys2674Arg)
c.7915T>C (p.Cys2639Arg)
c.7906T>C (p.Cys2636Arg)
c.7867T>C (p.Cys2623Arg)
c.7813T>C (p.Cys2605Arg)
c.7717T>C (p.Cys2573Arg)
c.7687T>C (p.Cys2563Arg)
c.7612T>C (p.Cys2538Arg)
c.7510T>C (p.Cys2504Arg)
c.7141T>C (p.Cys2381Arg)
ClinVar dbSNP
5g.112843584T>GCA16038687APCc.8044T>G (p.Cys2682Gly)
c.*7996T>G (n.*7996T>G)
c.7936T>G (p.Cys2646Gly)
c.7990T>G (p.Cys2664Gly)
c.231-13065T>G
c.8020T>G (p.Cys2674Gly)
c.7915T>G (p.Cys2639Gly)
c.7906T>G (p.Cys2636Gly)
c.7867T>G (p.Cys2623Gly)
c.7813T>G (p.Cys2605Gly)
c.7717T>G (p.Cys2573Gly)
c.7687T>G (p.Cys2563Gly)
c.7612T>G (p.Cys2538Gly)
c.7510T>G (p.Cys2504Gly)
c.7141T>G (p.Cys2381Gly)
5g.112843584T=CA1573475267APCc.8044T= (p.Cys2682=)
c.*7996T= (n.*7996T=)
c.7936T= (p.Cys2646=)
c.7990T= (p.Cys2664=)
c.231-13065T=
c.8020T= (p.Cys2674=)
c.7915T= (p.Cys2639=)
c.7906T= (p.Cys2636=)
c.7867T= (p.Cys2623=)
c.7813T= (p.Cys2605=)
c.7717T= (p.Cys2573=)
c.7687T= (p.Cys2563=)
c.7612T= (p.Cys2538=)
c.7510T= (p.Cys2504=)
c.7141T= (p.Cys2381=)
5g.112843585_112843586delCA2674869777APCc.8045_8046del (p.Cys2682SerfsTer3)
c.*7997_*7998del (n.*7997_*7998del)
c.7937_7938del (p.Cys2646SerfsTer3)
c.7991_7992del (p.Cys2664SerfsTer3)
c.231-13064_231-13063del
c.8021_8022del (p.Cys2674SerfsTer3)
c.7916_7917del (p.Cys2639SerfsTer3)
c.7907_7908del (p.Cys2636SerfsTer3)
c.7868_7869del (p.Cys2623SerfsTer3)
c.7814_7815del (p.Cys2605SerfsTer3)
c.7718_7719del (p.Cys2573SerfsTer3)
c.7688_7689del (p.Cys2563SerfsTer3)
c.7613_7614del (p.Cys2538SerfsTer3)
c.7511_7512del (p.Cys2504SerfsTer3)
c.7142_7143del (p.Cys2381SerfsTer3)
gnomAD v4
5g.112843585G>ACA16038688APCc.8045G>A (p.Cys2682Tyr)
c.*7997G>A (n.*7997G>A)
c.7937G>A (p.Cys2646Tyr)
c.7991G>A (p.Cys2664Tyr)
c.231-13064G>A
c.8021G>A (p.Cys2674Tyr)
c.7916G>A (p.Cys2639Tyr)
c.7907G>A (p.Cys2636Tyr)
c.7868G>A (p.Cys2623Tyr)
c.7814G>A (p.Cys2605Tyr)
c.7718G>A (p.Cys2573Tyr)
c.7688G>A (p.Cys2563Tyr)
c.7613G>A (p.Cys2538Tyr)
c.7511G>A (p.Cys2504Tyr)
c.7142G>A (p.Cys2381Tyr)
ClinVar dbSNP
5g.112843585G>CCA16038689APCc.8045G>C (p.Cys2682Ser)
c.*7997G>C (n.*7997G>C)
c.7937G>C (p.Cys2646Ser)
c.7991G>C (p.Cys2664Ser)
c.231-13064G>C
c.8021G>C (p.Cys2674Ser)
c.7916G>C (p.Cys2639Ser)
c.7907G>C (p.Cys2636Ser)
c.7868G>C (p.Cys2623Ser)
c.7814G>C (p.Cys2605Ser)
c.7718G>C (p.Cys2573Ser)
c.7688G>C (p.Cys2563Ser)
c.7613G>C (p.Cys2538Ser)
c.7511G>C (p.Cys2504Ser)
c.7142G>C (p.Cys2381Ser)
dbSNP
5g.112843585G>TCA16038690APCc.8045G>T (p.Cys2682Phe)
c.*7997G>T (n.*7997G>T)
c.7937G>T (p.Cys2646Phe)
c.7991G>T (p.Cys2664Phe)
c.231-13064G>T
c.8021G>T (p.Cys2674Phe)
c.7916G>T (p.Cys2639Phe)
c.7907G>T (p.Cys2636Phe)
c.7868G>T (p.Cys2623Phe)
c.7814G>T (p.Cys2605Phe)
c.7718G>T (p.Cys2573Phe)
c.7688G>T (p.Cys2563Phe)
c.7613G>T (p.Cys2538Phe)
c.7511G>T (p.Cys2504Phe)
c.7142G>T (p.Cys2381Phe)
5g.112843586T>ACA16038691APCc.8046T>A (p.Cys2682Ter)
c.*7998T>A (n.*7998T>A)
c.7938T>A (p.Cys2646Ter)
c.7992T>A (p.Cys2664Ter)
c.231-13063T>A
c.8022T>A (p.Cys2674Ter)
c.7917T>A (p.Cys2639Ter)
c.7908T>A (p.Cys2636Ter)
c.7869T>A (p.Cys2623Ter)
c.7815T>A (p.Cys2605Ter)
c.7719T>A (p.Cys2573Ter)
c.7689T>A (p.Cys2563Ter)
c.7614T>A (p.Cys2538Ter)
c.7512T>A (p.Cys2504Ter)
c.7143T>A (p.Cys2381Ter)
5g.112843586T>CCA446211001APCc.8046T>C (p.Cys2682=)
c.*7998T>C (n.*7998T>C)
c.7938T>C (p.Cys2646=)
c.7992T>C (p.Cys2664=)
c.231-13063T>C
c.8022T>C (p.Cys2674=)
c.7917T>C (p.Cys2639=)
c.7908T>C (p.Cys2636=)
c.7869T>C (p.Cys2623=)
c.7815T>C (p.Cys2605=)
c.7719T>C (p.Cys2573=)
c.7689T>C (p.Cys2563=)
c.7614T>C (p.Cys2538=)
c.7512T>C (p.Cys2504=)
c.7143T>C (p.Cys2381=)
COSMIC
5g.112843586T>GCA16038692APCc.8046T>G (p.Cys2682Trp)
c.*7998T>G (n.*7998T>G)
c.7938T>G (p.Cys2646Trp)
c.7992T>G (p.Cys2664Trp)
c.231-13063T>G
c.8022T>G (p.Cys2674Trp)
c.7917T>G (p.Cys2639Trp)
c.7908T>G (p.Cys2636Trp)
c.7869T>G (p.Cys2623Trp)
c.7815T>G (p.Cys2605Trp)
c.7719T>G (p.Cys2573Trp)
c.7689T>G (p.Cys2563Trp)
c.7614T>G (p.Cys2538Trp)
c.7512T>G (p.Cys2504Trp)
c.7143T>G (p.Cys2381Trp)
5g.112843587C>ACA16038693APCc.8047C>A (p.Pro2683Thr)
c.*7999C>A (n.*7999C>A)
c.7939C>A (p.Pro2647Thr)
c.7993C>A (p.Pro2665Thr)
c.231-13062C>A
c.8023C>A (p.Pro2675Thr)
c.7918C>A (p.Pro2640Thr)
c.7909C>A (p.Pro2637Thr)
c.7870C>A (p.Pro2624Thr)
c.7816C>A (p.Pro2606Thr)
c.7720C>A (p.Pro2574Thr)
c.7690C>A (p.Pro2564Thr)
c.7615C>A (p.Pro2539Thr)
c.7513C>A (p.Pro2505Thr)
c.7144C>A (p.Pro2382Thr)
dbSNP
5g.112843587C=CA1573475278APCc.8047C= (p.Pro2683=)
c.*7999C= (n.*7999C=)
c.7939C= (p.Pro2647=)
c.7993C= (p.Pro2665=)
c.231-13062C=
c.8023C= (p.Pro2675=)
c.7918C= (p.Pro2640=)
c.7909C= (p.Pro2637=)
c.7870C= (p.Pro2624=)
c.7816C= (p.Pro2606=)
c.7720C= (p.Pro2574=)
c.7690C= (p.Pro2564=)
c.7615C= (p.Pro2539=)
c.7513C= (p.Pro2505=)
c.7144C= (p.Pro2382=)
5g.112843587C>GCA16038694APCc.8047C>G (p.Pro2683Ala)
c.*7999C>G (n.*7999C>G)
c.7939C>G (p.Pro2647Ala)
c.7993C>G (p.Pro2665Ala)
c.231-13062C>G
c.8023C>G (p.Pro2675Ala)
c.7918C>G (p.Pro2640Ala)
c.7909C>G (p.Pro2637Ala)
c.7870C>G (p.Pro2624Ala)
c.7816C>G (p.Pro2606Ala)
c.7720C>G (p.Pro2574Ala)
c.7690C>G (p.Pro2564Ala)
c.7615C>G (p.Pro2539Ala)
c.7513C>G (p.Pro2505Ala)
c.7144C>G (p.Pro2382Ala)
dbSNP
5g.112843587C>TCA16038695APCc.8047C>T (p.Pro2683Ser)
c.*7999C>T (n.*7999C>T)
c.7939C>T (p.Pro2647Ser)
c.7993C>T (p.Pro2665Ser)
c.231-13062C>T
c.8023C>T (p.Pro2675Ser)
c.7918C>T (p.Pro2640Ser)
c.7909C>T (p.Pro2637Ser)
c.7870C>T (p.Pro2624Ser)
c.7816C>T (p.Pro2606Ser)
c.7720C>T (p.Pro2574Ser)
c.7690C>T (p.Pro2564Ser)
c.7615C>T (p.Pro2539Ser)
c.7513C>T (p.Pro2505Ser)
c.7144C>T (p.Pro2382Ser)
ClinVar dbSNP
5g.112843588_112843589delCA2709995022APCc.8048_8049del (p.Pro2683HisfsTer2)
c.*8000_*8001del (n.*8000_*8001del)
c.7940_7941del (p.Pro2647HisfsTer2)
c.7994_7995del (p.Pro2665HisfsTer2)
c.231-13061_231-13060del
c.8024_8025del (p.Pro2675HisfsTer2)
c.7919_7920del (p.Pro2640HisfsTer2)
c.7910_7911del (p.Pro2637HisfsTer2)
c.7871_7872del (p.Pro2624HisfsTer2)
c.7817_7818del (p.Pro2606HisfsTer2)
c.7721_7722del (p.Pro2574HisfsTer2)
c.7691_7692del (p.Pro2564HisfsTer2)
c.7616_7617del (p.Pro2539HisfsTer2)
c.7514_7515del (p.Pro2505HisfsTer2)
c.7145_7146del (p.Pro2382HisfsTer2)
dbSNP
5g.112843588C>ACA16038696APCc.8048C>A (p.Pro2683His)
c.*8000C>A (n.*8000C>A)
c.7940C>A (p.Pro2647His)
c.7994C>A (p.Pro2665His)
c.231-13061C>A
c.8024C>A (p.Pro2675His)
c.7919C>A (p.Pro2640His)
c.7910C>A (p.Pro2637His)
c.7871C>A (p.Pro2624His)
c.7817C>A (p.Pro2606His)
c.7721C>A (p.Pro2574His)
c.7691C>A (p.Pro2564His)
c.7616C>A (p.Pro2539His)
c.7514C>A (p.Pro2505His)
c.7145C>A (p.Pro2382His)
dbSNP
5g.112843588C>GCA16038697APCc.8048C>G (p.Pro2683Arg)
c.*8000C>G (n.*8000C>G)
c.7940C>G (p.Pro2647Arg)
c.7994C>G (p.Pro2665Arg)
c.231-13061C>G
c.8024C>G (p.Pro2675Arg)
c.7919C>G (p.Pro2640Arg)
c.7910C>G (p.Pro2637Arg)
c.7871C>G (p.Pro2624Arg)
c.7817C>G (p.Pro2606Arg)
c.7721C>G (p.Pro2574Arg)
c.7691C>G (p.Pro2564Arg)
c.7616C>G (p.Pro2539Arg)
c.7514C>G (p.Pro2505Arg)
c.7145C>G (p.Pro2382Arg)
ClinVar dbSNP
5g.112843588C>TCA16038698APCc.8048C>T (p.Pro2683Leu)
c.*8000C>T (n.*8000C>T)
c.7940C>T (p.Pro2647Leu)
c.7994C>T (p.Pro2665Leu)
c.231-13061C>T
c.8024C>T (p.Pro2675Leu)
c.7919C>T (p.Pro2640Leu)
c.7910C>T (p.Pro2637Leu)
c.7871C>T (p.Pro2624Leu)
c.7817C>T (p.Pro2606Leu)
c.7721C>T (p.Pro2574Leu)
c.7691C>T (p.Pro2564Leu)
c.7616C>T (p.Pro2539Leu)
c.7514C>T (p.Pro2505Leu)
c.7145C>T (p.Pro2382Leu)
dbSNP
5g.112843589C>ACA446211004APCc.8049C>A (p.Pro2683=)
c.*8001C>A (n.*8001C>A)
c.7941C>A (p.Pro2647=)
c.7995C>A (p.Pro2665=)
c.231-13060C>A
c.8025C>A (p.Pro2675=)
c.7920C>A (p.Pro2640=)
c.7911C>A (p.Pro2637=)
c.7872C>A (p.Pro2624=)
c.7818C>A (p.Pro2606=)
c.7722C>A (p.Pro2574=)
c.7692C>A (p.Pro2564=)
c.7617C>A (p.Pro2539=)
c.7515C>A (p.Pro2505=)
c.7146C>A (p.Pro2382=)
dbSNP
5g.112843589C=CA1573475298APCc.8049C= (p.Pro2683=)
c.*8001C= (n.*8001C=)
c.7941C= (p.Pro2647=)
c.7995C= (p.Pro2665=)
c.231-13060C=
c.8025C= (p.Pro2675=)
c.7920C= (p.Pro2640=)
c.7911C= (p.Pro2637=)
c.7872C= (p.Pro2624=)
c.7818C= (p.Pro2606=)
c.7722C= (p.Pro2574=)
c.7692C= (p.Pro2564=)
c.7617C= (p.Pro2539=)
c.7515C= (p.Pro2505=)
c.7146C= (p.Pro2382=)
5g.112843589C>GCA446211003APCc.8049C>G (p.Pro2683=)
c.*8001C>G (n.*8001C>G)
c.7941C>G (p.Pro2647=)
c.7995C>G (p.Pro2665=)
c.231-13060C>G
c.8025C>G (p.Pro2675=)
c.7920C>G (p.Pro2640=)
c.7911C>G (p.Pro2637=)
c.7872C>G (p.Pro2624=)
c.7818C>G (p.Pro2606=)
c.7722C>G (p.Pro2574=)
c.7692C>G (p.Pro2564=)
c.7617C>G (p.Pro2539=)
c.7515C>G (p.Pro2505=)
c.7146C>G (p.Pro2382=)
dbSNP COSMIC
5g.112843589C>TCA446211002APCc.8049C>T (p.Pro2683=)
c.*8001C>T (n.*8001C>T)
c.7941C>T (p.Pro2647=)
c.7995C>T (p.Pro2665=)
c.231-13060C>T
c.8025C>T (p.Pro2675=)
c.7920C>T (p.Pro2640=)
c.7911C>T (p.Pro2637=)
c.7872C>T (p.Pro2624=)
c.7818C>T (p.Pro2606=)
c.7722C>T (p.Pro2574=)
c.7692C>T (p.Pro2564=)
c.7617C>T (p.Pro2539=)
c.7515C>T (p.Pro2505=)
c.7146C>T (p.Pro2382=)
ClinVar dbSNP gnomAD v4
5g.112843590A=CA1573475305APCc.8050A= (p.Ile2684=)
c.*8002A= (n.*8002A=)
c.7942A= (p.Ile2648=)
c.7996A= (p.Ile2666=)
c.231-13059A=
c.8026A= (p.Ile2676=)
c.7921A= (p.Ile2641=)
c.7912A= (p.Ile2638=)
c.7873A= (p.Ile2625=)
c.7819A= (p.Ile2607=)
c.7723A= (p.Ile2575=)
c.7693A= (p.Ile2565=)
c.7618A= (p.Ile2540=)
c.7516A= (p.Ile2506=)
c.7147A= (p.Ile2383=)
5g.112843590A>CCA16038699APCc.8050A>C (p.Ile2684Leu)
c.*8002A>C (n.*8002A>C)
c.7942A>C (p.Ile2648Leu)
c.7996A>C (p.Ile2666Leu)
c.231-13059A>C
c.8026A>C (p.Ile2676Leu)
c.7921A>C (p.Ile2641Leu)
c.7912A>C (p.Ile2638Leu)
c.7873A>C (p.Ile2625Leu)
c.7819A>C (p.Ile2607Leu)
c.7723A>C (p.Ile2575Leu)
c.7693A>C (p.Ile2565Leu)
c.7618A>C (p.Ile2540Leu)
c.7516A>C (p.Ile2506Leu)
c.7147A>C (p.Ile2383Leu)
5g.112843590A>GCA16038700APCc.8050A>G (p.Ile2684Val)
c.*8002A>G (n.*8002A>G)
c.7942A>G (p.Ile2648Val)
c.7996A>G (p.Ile2666Val)
c.231-13059A>G
c.8026A>G (p.Ile2676Val)
c.7921A>G (p.Ile2641Val)
c.7912A>G (p.Ile2638Val)
c.7873A>G (p.Ile2625Val)
c.7819A>G (p.Ile2607Val)
c.7723A>G (p.Ile2575Val)
c.7693A>G (p.Ile2565Val)
c.7618A>G (p.Ile2540Val)
c.7516A>G (p.Ile2506Val)
c.7147A>G (p.Ile2383Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843590A>TCA16038701APCc.8050A>T (p.Ile2684Phe)
c.*8002A>T (n.*8002A>T)
c.7942A>T (p.Ile2648Phe)
c.7996A>T (p.Ile2666Phe)
c.231-13059A>T
c.8026A>T (p.Ile2676Phe)
c.7921A>T (p.Ile2641Phe)
c.7912A>T (p.Ile2638Phe)
c.7873A>T (p.Ile2625Phe)
c.7819A>T (p.Ile2607Phe)
c.7723A>T (p.Ile2575Phe)
c.7693A>T (p.Ile2565Phe)
c.7618A>T (p.Ile2540Phe)
c.7516A>T (p.Ile2506Phe)
c.7147A>T (p.Ile2383Phe)
5g.112843591T>ACA16038702APCc.8051T>A (p.Ile2684Asn)
c.*8003T>A (n.*8003T>A)
c.7943T>A (p.Ile2648Asn)
c.7997T>A (p.Ile2666Asn)
c.231-13058T>A
c.8027T>A (p.Ile2676Asn)
c.7922T>A (p.Ile2641Asn)
c.7913T>A (p.Ile2638Asn)
c.7874T>A (p.Ile2625Asn)
c.7820T>A (p.Ile2607Asn)
c.7724T>A (p.Ile2575Asn)
c.7694T>A (p.Ile2565Asn)
c.7619T>A (p.Ile2540Asn)
c.7517T>A (p.Ile2506Asn)
c.7148T>A (p.Ile2383Asn)
ClinVar dbSNP gnomAD v4
5g.112843591T>CCA16038703APCc.8051T>C (p.Ile2684Thr)
c.*8003T>C (n.*8003T>C)
c.7943T>C (p.Ile2648Thr)
c.7997T>C (p.Ile2666Thr)
c.231-13058T>C
c.8027T>C (p.Ile2676Thr)
c.7922T>C (p.Ile2641Thr)
c.7913T>C (p.Ile2638Thr)
c.7874T>C (p.Ile2625Thr)
c.7820T>C (p.Ile2607Thr)
c.7724T>C (p.Ile2575Thr)
c.7694T>C (p.Ile2565Thr)
c.7619T>C (p.Ile2540Thr)
c.7517T>C (p.Ile2506Thr)
c.7148T>C (p.Ile2383Thr)
dbSNP
5g.112843591T>GCA16038704APCc.8051T>G (p.Ile2684Ser)
c.*8003T>G (n.*8003T>G)
c.7943T>G (p.Ile2648Ser)
c.7997T>G (p.Ile2666Ser)
c.231-13058T>G
c.8027T>G (p.Ile2676Ser)
c.7922T>G (p.Ile2641Ser)
c.7913T>G (p.Ile2638Ser)
c.7874T>G (p.Ile2625Ser)
c.7820T>G (p.Ile2607Ser)
c.7724T>G (p.Ile2575Ser)
c.7694T>G (p.Ile2565Ser)
c.7619T>G (p.Ile2540Ser)
c.7517T>G (p.Ile2506Ser)
c.7148T>G (p.Ile2383Ser)
ClinVar
5g.112843592T>ACA446211005APCc.8052T>A (p.Ile2684=)
c.*8004T>A (n.*8004T>A)
c.7944T>A (p.Ile2648=)
c.7998T>A (p.Ile2666=)
c.231-13057T>A
c.8028T>A (p.Ile2676=)
c.7923T>A (p.Ile2641=)
c.7914T>A (p.Ile2638=)
c.7875T>A (p.Ile2625=)
c.7821T>A (p.Ile2607=)
c.7725T>A (p.Ile2575=)
c.7695T>A (p.Ile2565=)
c.7620T>A (p.Ile2540=)
c.7518T>A (p.Ile2506=)
c.7149T>A (p.Ile2383=)
dbSNP
5g.112843592T>CCA446211006APCc.8052T>C (p.Ile2684=)
c.*8004T>C (n.*8004T>C)
c.7944T>C (p.Ile2648=)
c.7998T>C (p.Ile2666=)
c.231-13057T>C
c.8028T>C (p.Ile2676=)
c.7923T>C (p.Ile2641=)
c.7914T>C (p.Ile2638=)
c.7875T>C (p.Ile2625=)
c.7821T>C (p.Ile2607=)
c.7725T>C (p.Ile2575=)
c.7695T>C (p.Ile2565=)
c.7620T>C (p.Ile2540=)
c.7518T>C (p.Ile2506=)
c.7149T>C (p.Ile2383=)
ClinVar
5g.112843592T>GCA16038705APCc.8052T>G (p.Ile2684Met)
c.*8004T>G (n.*8004T>G)
c.7944T>G (p.Ile2648Met)
c.7998T>G (p.Ile2666Met)
c.231-13057T>G
c.8028T>G (p.Ile2676Met)
c.7923T>G (p.Ile2641Met)
c.7914T>G (p.Ile2638Met)
c.7875T>G (p.Ile2625Met)
c.7821T>G (p.Ile2607Met)
c.7725T>G (p.Ile2575Met)
c.7695T>G (p.Ile2565Met)
c.7620T>G (p.Ile2540Met)
c.7518T>G (p.Ile2506Met)
c.7149T>G (p.Ile2383Met)
ClinVar dbSNP
5g.112843592T=CA1573475312APCc.8052T= (p.Ile2684=)
c.*8004T= (n.*8004T=)
c.7944T= (p.Ile2648=)
c.7998T= (p.Ile2666=)
c.231-13057T=
c.8028T= (p.Ile2676=)
c.7923T= (p.Ile2641=)
c.7914T= (p.Ile2638=)
c.7875T= (p.Ile2625=)
c.7821T= (p.Ile2607=)
c.7725T= (p.Ile2575=)
c.7695T= (p.Ile2565=)
c.7620T= (p.Ile2540=)
c.7518T= (p.Ile2506=)
c.7149T= (p.Ile2383=)
5g.112843593A>CCA16038706APCc.8053A>C (p.Asn2685His)
c.*8005A>C (n.*8005A>C)
c.7945A>C (p.Asn2649His)
c.7999A>C (p.Asn2667His)
c.231-13056A>C
c.8029A>C (p.Asn2677His)
c.7924A>C (p.Asn2642His)
c.7915A>C (p.Asn2639His)
c.7876A>C (p.Asn2626His)
c.7822A>C (p.Asn2608His)
c.7726A>C (p.Asn2576His)
c.7696A>C (p.Asn2566His)
c.7621A>C (p.Asn2541His)
c.7519A>C (p.Asn2507His)
c.7150A>C (p.Asn2384His)
5g.112843593A>GCA16038707APCc.8053A>G (p.Asn2685Asp)
c.*8005A>G (n.*8005A>G)
c.7945A>G (p.Asn2649Asp)
c.7999A>G (p.Asn2667Asp)
c.231-13056A>G
c.8029A>G (p.Asn2677Asp)
c.7924A>G (p.Asn2642Asp)
c.7915A>G (p.Asn2639Asp)
c.7876A>G (p.Asn2626Asp)
c.7822A>G (p.Asn2608Asp)
c.7726A>G (p.Asn2576Asp)
c.7696A>G (p.Asn2566Asp)
c.7621A>G (p.Asn2541Asp)
c.7519A>G (p.Asn2507Asp)
c.7150A>G (p.Asn2384Asp)
dbSNP
5g.112843593A>TCA16038708APCc.8053A>T (p.Asn2685Tyr)
c.*8005A>T (n.*8005A>T)
c.7945A>T (p.Asn2649Tyr)
c.7999A>T (p.Asn2667Tyr)
c.231-13056A>T
c.8029A>T (p.Asn2677Tyr)
c.7924A>T (p.Asn2642Tyr)
c.7915A>T (p.Asn2639Tyr)
c.7876A>T (p.Asn2626Tyr)
c.7822A>T (p.Asn2608Tyr)
c.7726A>T (p.Asn2576Tyr)
c.7696A>T (p.Asn2566Tyr)
c.7621A>T (p.Asn2541Tyr)
c.7519A>T (p.Asn2507Tyr)
c.7150A>T (p.Asn2384Tyr)
ClinVar dbSNP
5g.112843595_112843597delCA2580072453APCc.8055_8057del (p.Asn2686del)
c.*8007_*8009del (n.*8007_*8009del)
c.7947_7949del (p.Asn2650del)
c.8001_8003del (p.Asn2668del)
c.231-13054_231-13052del
c.8031_8033del (p.Asn2678del)
c.7926_7928del (p.Asn2643del)
c.7917_7919del (p.Asn2640del)
c.7878_7880del (p.Asn2627del)
c.7824_7826del (p.Asn2609del)
c.7728_7730del (p.Asn2577del)
c.7698_7700del (p.Asn2567del)
c.7623_7625del (p.Asn2542del)
c.7521_7523del (p.Asn2508del)
c.7152_7154del (p.Asn2385del)
ClinVar
5g.112843594A=CA1573475319APCc.8054A= (p.Asn2685=)
c.*8006A= (n.*8006A=)
c.7946A= (p.Asn2649=)
c.8000A= (p.Asn2667=)
c.231-13055A=
c.8030A= (p.Asn2677=)
c.7925A= (p.Asn2642=)
c.7916A= (p.Asn2639=)
c.7877A= (p.Asn2626=)
c.7823A= (p.Asn2608=)
c.7727A= (p.Asn2576=)
c.7697A= (p.Asn2566=)
c.7622A= (p.Asn2541=)
c.7520A= (p.Asn2507=)
c.7151A= (p.Asn2384=)
5g.112843594A>CCA16038709APCc.8054A>C (p.Asn2685Thr)
c.*8006A>C (n.*8006A>C)
c.7946A>C (p.Asn2649Thr)
c.8000A>C (p.Asn2667Thr)
c.231-13055A>C
c.8030A>C (p.Asn2677Thr)
c.7925A>C (p.Asn2642Thr)
c.7916A>C (p.Asn2639Thr)
c.7877A>C (p.Asn2626Thr)
c.7823A>C (p.Asn2608Thr)
c.7727A>C (p.Asn2576Thr)
c.7697A>C (p.Asn2566Thr)
c.7622A>C (p.Asn2541Thr)
c.7520A>C (p.Asn2507Thr)
c.7151A>C (p.Asn2384Thr)
dbSNP
5g.112843594A>GCA16038710APCc.8054A>G (p.Asn2685Ser)
c.*8006A>G (n.*8006A>G)
c.7946A>G (p.Asn2649Ser)
c.8000A>G (p.Asn2667Ser)
c.231-13055A>G
c.8030A>G (p.Asn2677Ser)
c.7925A>G (p.Asn2642Ser)
c.7916A>G (p.Asn2639Ser)
c.7877A>G (p.Asn2626Ser)
c.7823A>G (p.Asn2608Ser)
c.7727A>G (p.Asn2576Ser)
c.7697A>G (p.Asn2566Ser)
c.7622A>G (p.Asn2541Ser)
c.7520A>G (p.Asn2507Ser)
c.7151A>G (p.Asn2384Ser)
ClinVar dbSNP gnomAD v4
5g.112843594A>TCA16038711APCc.8054A>T (p.Asn2685Ile)
c.*8006A>T (n.*8006A>T)
c.7946A>T (p.Asn2649Ile)
c.8000A>T (p.Asn2667Ile)
c.231-13055A>T
c.8030A>T (p.Asn2677Ile)
c.7925A>T (p.Asn2642Ile)
c.7916A>T (p.Asn2639Ile)
c.7877A>T (p.Asn2626Ile)
c.7823A>T (p.Asn2608Ile)
c.7727A>T (p.Asn2576Ile)
c.7697A>T (p.Asn2566Ile)
c.7622A>T (p.Asn2541Ile)
c.7520A>T (p.Asn2507Ile)
c.7151A>T (p.Asn2384Ile)
dbSNP
5g.112843595C>ACA16038712APCc.8055C>A (p.Asn2685Lys)
c.*8007C>A (n.*8007C>A)
c.7947C>A (p.Asn2649Lys)
c.8001C>A (p.Asn2667Lys)
c.231-13054C>A
c.8031C>A (p.Asn2677Lys)
c.7926C>A (p.Asn2642Lys)
c.7917C>A (p.Asn2639Lys)
c.7878C>A (p.Asn2626Lys)
c.7824C>A (p.Asn2608Lys)
c.7728C>A (p.Asn2576Lys)
c.7698C>A (p.Asn2566Lys)
c.7623C>A (p.Asn2541Lys)
c.7521C>A (p.Asn2507Lys)
c.7152C>A (p.Asn2384Lys)
dbSNP
5g.112843595C=CA1573475326APCc.8055C= (p.Asn2685=)
c.*8007C= (n.*8007C=)
c.7947C= (p.Asn2649=)
c.8001C= (p.Asn2667=)
c.231-13054C=
c.8031C= (p.Asn2677=)
c.7926C= (p.Asn2642=)
c.7917C= (p.Asn2639=)
c.7878C= (p.Asn2626=)
c.7824C= (p.Asn2608=)
c.7728C= (p.Asn2576=)
c.7698C= (p.Asn2566=)
c.7623C= (p.Asn2541=)
c.7521C= (p.Asn2507=)
c.7152C= (p.Asn2384=)
5g.112843595C>GCA16038713APCc.8055C>G (p.Asn2685Lys)
c.*8007C>G (n.*8007C>G)
c.7947C>G (p.Asn2649Lys)
c.8001C>G (p.Asn2667Lys)
c.231-13054C>G
c.8031C>G (p.Asn2677Lys)
c.7926C>G (p.Asn2642Lys)
c.7917C>G (p.Asn2639Lys)
c.7878C>G (p.Asn2626Lys)
c.7824C>G (p.Asn2608Lys)
c.7728C>G (p.Asn2576Lys)
c.7698C>G (p.Asn2566Lys)
c.7623C>G (p.Asn2541Lys)
c.7521C>G (p.Asn2507Lys)
c.7152C>G (p.Asn2384Lys)
dbSNP
5g.112843595C>TCA446211007APCc.8055C>T (p.Asn2685=)
c.*8007C>T (n.*8007C>T)
c.7947C>T (p.Asn2649=)
c.8001C>T (p.Asn2667=)
c.231-13054C>T
c.8031C>T (p.Asn2677=)
c.7926C>T (p.Asn2642=)
c.7917C>T (p.Asn2639=)
c.7878C>T (p.Asn2626=)
c.7824C>T (p.Asn2608=)
c.7728C>T (p.Asn2576=)
c.7698C>T (p.Asn2566=)
c.7623C>T (p.Asn2541=)
c.7521C>T (p.Asn2507=)
c.7152C>T (p.Asn2384=)
dbSNP gnomAD v3 gnomAD v4
5g.112843596A>CCA16038714APCc.8056A>C (p.Asn2686His)
c.*8008A>C (n.*8008A>C)
c.7948A>C (p.Asn2650His)
c.8002A>C (p.Asn2668His)
c.231-13053A>C
c.8032A>C (p.Asn2678His)
c.7927A>C (p.Asn2643His)
c.7918A>C (p.Asn2640His)
c.7879A>C (p.Asn2627His)
c.7825A>C (p.Asn2609His)
c.7729A>C (p.Asn2577His)
c.7699A>C (p.Asn2567His)
c.7624A>C (p.Asn2542His)
c.7522A>C (p.Asn2508His)
c.7153A>C (p.Asn2385His)
5g.112843596A>GCA16038715APCc.8056A>G (p.Asn2686Asp)
c.*8008A>G (n.*8008A>G)
c.7948A>G (p.Asn2650Asp)
c.8002A>G (p.Asn2668Asp)
c.231-13053A>G
c.8032A>G (p.Asn2678Asp)
c.7927A>G (p.Asn2643Asp)
c.7918A>G (p.Asn2640Asp)
c.7879A>G (p.Asn2627Asp)
c.7825A>G (p.Asn2609Asp)
c.7729A>G (p.Asn2577Asp)
c.7699A>G (p.Asn2567Asp)
c.7624A>G (p.Asn2542Asp)
c.7522A>G (p.Asn2508Asp)
c.7153A>G (p.Asn2385Asp)
dbSNP gnomAD v4
5g.112843596A>TCA16038716APCc.8056A>T (p.Asn2686Tyr)
c.*8008A>T (n.*8008A>T)
c.7948A>T (p.Asn2650Tyr)
c.8002A>T (p.Asn2668Tyr)
c.231-13053A>T
c.8032A>T (p.Asn2678Tyr)
c.7927A>T (p.Asn2643Tyr)
c.7918A>T (p.Asn2640Tyr)
c.7879A>T (p.Asn2627Tyr)
c.7825A>T (p.Asn2609Tyr)
c.7729A>T (p.Asn2577Tyr)
c.7699A>T (p.Asn2567Tyr)
c.7624A>T (p.Asn2542Tyr)
c.7522A>T (p.Asn2508Tyr)
c.7153A>T (p.Asn2385Tyr)
dbSNP
5g.112843597A=CA1573475348APCc.8057A= (p.Asn2686=)
c.*8009A= (n.*8009A=)
c.7949A= (p.Asn2650=)
c.8003A= (p.Asn2668=)
c.231-13052A=
c.8033A= (p.Asn2678=)
c.7928A= (p.Asn2643=)
c.7919A= (p.Asn2640=)
c.7880A= (p.Asn2627=)
c.7826A= (p.Asn2609=)
c.7730A= (p.Asn2577=)
c.7700A= (p.Asn2567=)
c.7625A= (p.Asn2542=)
c.7523A= (p.Asn2508=)
c.7154A= (p.Asn2385=)
5g.112843597A>CCA16038717APCc.8057A>C (p.Asn2686Thr)
c.*8009A>C (n.*8009A>C)
c.7949A>C (p.Asn2650Thr)
c.8003A>C (p.Asn2668Thr)
c.231-13052A>C
c.8033A>C (p.Asn2678Thr)
c.7928A>C (p.Asn2643Thr)
c.7919A>C (p.Asn2640Thr)
c.7880A>C (p.Asn2627Thr)
c.7826A>C (p.Asn2609Thr)
c.7730A>C (p.Asn2577Thr)
c.7700A>C (p.Asn2567Thr)
c.7625A>C (p.Asn2542Thr)
c.7523A>C (p.Asn2508Thr)
c.7154A>C (p.Asn2385Thr)
dbSNP
5g.112843597A>GCA049593APCc.8057A>G (p.Asn2686Ser)
c.*8009A>G (n.*8009A>G)
c.7949A>G (p.Asn2650Ser)
c.8003A>G (p.Asn2668Ser)
c.231-13052A>G
c.8033A>G (p.Asn2678Ser)
c.7928A>G (p.Asn2643Ser)
c.7919A>G (p.Asn2640Ser)
c.7880A>G (p.Asn2627Ser)
c.7826A>G (p.Asn2609Ser)
c.7730A>G (p.Asn2577Ser)
c.7700A>G (p.Asn2567Ser)
c.7625A>G (p.Asn2542Ser)
c.7523A>G (p.Asn2508Ser)
c.7154A>G (p.Asn2385Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843597A>TCA16038718APCc.8057A>T (p.Asn2686Ile)
c.*8009A>T (n.*8009A>T)
c.7949A>T (p.Asn2650Ile)
c.8003A>T (p.Asn2668Ile)
c.231-13052A>T
c.8033A>T (p.Asn2678Ile)
c.7928A>T (p.Asn2643Ile)
c.7919A>T (p.Asn2640Ile)
c.7880A>T (p.Asn2627Ile)
c.7826A>T (p.Asn2609Ile)
c.7730A>T (p.Asn2577Ile)
c.7700A>T (p.Asn2567Ile)
c.7625A>T (p.Asn2542Ile)
c.7523A>T (p.Asn2508Ile)
c.7154A>T (p.Asn2385Ile)
dbSNP
5g.112843598T>ACA16038719APCc.8058T>A (p.Asn2686Lys)
c.*8010T>A (n.*8010T>A)
c.7950T>A (p.Asn2650Lys)
c.8004T>A (p.Asn2668Lys)
c.231-13051T>A
c.8034T>A (p.Asn2678Lys)
c.7929T>A (p.Asn2643Lys)
c.7920T>A (p.Asn2640Lys)
c.7881T>A (p.Asn2627Lys)
c.7827T>A (p.Asn2609Lys)
c.7731T>A (p.Asn2577Lys)
c.7701T>A (p.Asn2567Lys)
c.7626T>A (p.Asn2542Lys)
c.7524T>A (p.Asn2508Lys)
c.7155T>A (p.Asn2385Lys)
dbSNP
5g.112843598T>CCA446211008APCc.8058T>C (p.Asn2686=)
c.*8010T>C (n.*8010T>C)
c.7950T>C (p.Asn2650=)
c.8004T>C (p.Asn2668=)
c.231-13051T>C
c.8034T>C (p.Asn2678=)
c.7929T>C (p.Asn2643=)
c.7920T>C (p.Asn2640=)
c.7881T>C (p.Asn2627=)
c.7827T>C (p.Asn2609=)
c.7731T>C (p.Asn2577=)
c.7701T>C (p.Asn2567=)
c.7626T>C (p.Asn2542=)
c.7524T>C (p.Asn2508=)
c.7155T>C (p.Asn2385=)
ClinVar
5g.112843598T>GCA16038720APCc.8058T>G (p.Asn2686Lys)
c.*8010T>G (n.*8010T>G)
c.7950T>G (p.Asn2650Lys)
c.8004T>G (p.Asn2668Lys)
c.231-13051T>G
c.8034T>G (p.Asn2678Lys)
c.7929T>G (p.Asn2643Lys)
c.7920T>G (p.Asn2640Lys)
c.7881T>G (p.Asn2627Lys)
c.7827T>G (p.Asn2609Lys)
c.7731T>G (p.Asn2577Lys)
c.7701T>G (p.Asn2567Lys)
c.7626T>G (p.Asn2542Lys)
c.7524T>G (p.Asn2508Lys)
c.7155T>G (p.Asn2385Lys)
5g.112843599C>ACA16038721APCc.8059C>A (p.Pro2687Thr)
c.*8011C>A (n.*8011C>A)
c.7951C>A (p.Pro2651Thr)
c.8005C>A (p.Pro2669Thr)
c.231-13050C>A
c.8035C>A (p.Pro2679Thr)
c.7930C>A (p.Pro2644Thr)
c.7921C>A (p.Pro2641Thr)
c.7882C>A (p.Pro2628Thr)
c.7828C>A (p.Pro2610Thr)
c.7732C>A (p.Pro2578Thr)
c.7702C>A (p.Pro2568Thr)
c.7627C>A (p.Pro2543Thr)
c.7525C>A (p.Pro2509Thr)
c.7156C>A (p.Pro2386Thr)
ClinVar dbSNP
5g.112843599C=CA1573475360APCc.8059C= (p.Pro2687=)
c.*8011C= (n.*8011C=)
c.7951C= (p.Pro2651=)
c.8005C= (p.Pro2669=)
c.231-13050C=
c.8035C= (p.Pro2679=)
c.7930C= (p.Pro2644=)
c.7921C= (p.Pro2641=)
c.7882C= (p.Pro2628=)
c.7828C= (p.Pro2610=)
c.7732C= (p.Pro2578=)
c.7702C= (p.Pro2568=)
c.7627C= (p.Pro2543=)
c.7525C= (p.Pro2509=)
c.7156C= (p.Pro2386=)
5g.112843599C>GCA16038722APCc.8059C>G (p.Pro2687Ala)
c.*8011C>G (n.*8011C>G)
c.7951C>G (p.Pro2651Ala)
c.8005C>G (p.Pro2669Ala)
c.231-13050C>G
c.8035C>G (p.Pro2679Ala)
c.7930C>G (p.Pro2644Ala)
c.7921C>G (p.Pro2641Ala)
c.7882C>G (p.Pro2628Ala)
c.7828C>G (p.Pro2610Ala)
c.7732C>G (p.Pro2578Ala)
c.7702C>G (p.Pro2568Ala)
c.7627C>G (p.Pro2543Ala)
c.7525C>G (p.Pro2509Ala)
c.7156C>G (p.Pro2386Ala)
ClinVar dbSNP
5g.112843599C>TCA16038723APCc.8059C>T (p.Pro2687Ser)
c.*8011C>T (n.*8011C>T)
c.7951C>T (p.Pro2651Ser)
c.8005C>T (p.Pro2669Ser)
c.231-13050C>T
c.8035C>T (p.Pro2679Ser)
c.7930C>T (p.Pro2644Ser)
c.7921C>T (p.Pro2641Ser)
c.7882C>T (p.Pro2628Ser)
c.7828C>T (p.Pro2610Ser)
c.7732C>T (p.Pro2578Ser)
c.7702C>T (p.Pro2568Ser)
c.7627C>T (p.Pro2543Ser)
c.7525C>T (p.Pro2509Ser)
c.7156C>T (p.Pro2386Ser)
ClinVar dbSNP
5g.112843600C>ACA16038724APCc.8060C>A (p.Pro2687His)
c.*8012C>A (n.*8012C>A)
c.7952C>A (p.Pro2651His)
c.8006C>A (p.Pro2669His)
c.231-13049C>A
c.8036C>A (p.Pro2679His)
c.7931C>A (p.Pro2644His)
c.7922C>A (p.Pro2641His)
c.7883C>A (p.Pro2628His)
c.7829C>A (p.Pro2610His)
c.7733C>A (p.Pro2578His)
c.7703C>A (p.Pro2568His)
c.7628C>A (p.Pro2543His)
c.7526C>A (p.Pro2509His)
c.7157C>A (p.Pro2386His)
dbSNP
5g.112843600C=CA1573475378APCc.8060C= (p.Pro2687=)
c.*8012C= (n.*8012C=)
c.7952C= (p.Pro2651=)
c.8006C= (p.Pro2669=)
c.231-13049C=
c.8036C= (p.Pro2679=)
c.7931C= (p.Pro2644=)
c.7922C= (p.Pro2641=)
c.7883C= (p.Pro2628=)
c.7829C= (p.Pro2610=)
c.7733C= (p.Pro2578=)
c.7703C= (p.Pro2568=)
c.7628C= (p.Pro2543=)
c.7526C= (p.Pro2509=)
c.7157C= (p.Pro2386=)
5g.112843600C>GCA16038725APCc.8060C>G (p.Pro2687Arg)
c.*8012C>G (n.*8012C>G)
c.7952C>G (p.Pro2651Arg)
c.8006C>G (p.Pro2669Arg)
c.231-13049C>G
c.8036C>G (p.Pro2679Arg)
c.7931C>G (p.Pro2644Arg)
c.7922C>G (p.Pro2641Arg)
c.7883C>G (p.Pro2628Arg)
c.7829C>G (p.Pro2610Arg)
c.7733C>G (p.Pro2578Arg)
c.7703C>G (p.Pro2568Arg)
c.7628C>G (p.Pro2543Arg)
c.7526C>G (p.Pro2509Arg)
c.7157C>G (p.Pro2386Arg)
ClinVar dbSNP gnomAD v4
5g.112843600C>TCA16038726APCc.8060C>T (p.Pro2687Leu)
c.*8012C>T (n.*8012C>T)
c.7952C>T (p.Pro2651Leu)
c.8006C>T (p.Pro2669Leu)
c.231-13049C>T
c.8036C>T (p.Pro2679Leu)
c.7931C>T (p.Pro2644Leu)
c.7922C>T (p.Pro2641Leu)
c.7883C>T (p.Pro2628Leu)
c.7829C>T (p.Pro2610Leu)
c.7733C>T (p.Pro2578Leu)
c.7703C>T (p.Pro2568Leu)
c.7628C>T (p.Pro2543Leu)
c.7526C>T (p.Pro2509Leu)
c.7157C>T (p.Pro2386Leu)
ClinVar dbSNP
5g.112843601T>ACA446211009APCc.8061T>A (p.Pro2687=)
c.*8013T>A (n.*8013T>A)
c.7953T>A (p.Pro2651=)
c.8007T>A (p.Pro2669=)
c.231-13048T>A
c.8037T>A (p.Pro2679=)
c.7932T>A (p.Pro2644=)
c.7923T>A (p.Pro2641=)
c.7884T>A (p.Pro2628=)
c.7830T>A (p.Pro2610=)
c.7734T>A (p.Pro2578=)
c.7704T>A (p.Pro2568=)
c.7629T>A (p.Pro2543=)
c.7527T>A (p.Pro2509=)
c.7158T>A (p.Pro2386=)
dbSNP
5g.112843601T>CCA446211010APCc.8061T>C (p.Pro2687=)
c.*8013T>C (n.*8013T>C)
c.7953T>C (p.Pro2651=)
c.8007T>C (p.Pro2669=)
c.231-13048T>C
c.8037T>C (p.Pro2679=)
c.7932T>C (p.Pro2644=)
c.7923T>C (p.Pro2641=)
c.7884T>C (p.Pro2628=)
c.7830T>C (p.Pro2610=)
c.7734T>C (p.Pro2578=)
c.7704T>C (p.Pro2568=)
c.7629T>C (p.Pro2543=)
c.7527T>C (p.Pro2509=)
c.7158T>C (p.Pro2386=)
ClinVar dbSNP gnomAD v4
5g.112843601T>GCA446211011APCc.8061T>G (p.Pro2687=)
c.*8013T>G (n.*8013T>G)
c.7953T>G (p.Pro2651=)
c.8007T>G (p.Pro2669=)
c.231-13048T>G
c.8037T>G (p.Pro2679=)
c.7932T>G (p.Pro2644=)
c.7923T>G (p.Pro2641=)
c.7884T>G (p.Pro2628=)
c.7830T>G (p.Pro2610=)
c.7734T>G (p.Pro2578=)
c.7704T>G (p.Pro2568=)
c.7629T>G (p.Pro2543=)
c.7527T>G (p.Pro2509=)
c.7158T>G (p.Pro2386=)
ClinVar gnomAD v4
5g.112843601T=CA1573475408APCc.8061T= (p.Pro2687=)
c.*8013T= (n.*8013T=)
c.7953T= (p.Pro2651=)
c.8007T= (p.Pro2669=)
c.231-13048T=
c.8037T= (p.Pro2679=)
c.7932T= (p.Pro2644=)
c.7923T= (p.Pro2641=)
c.7884T= (p.Pro2628=)
c.7830T= (p.Pro2610=)
c.7734T= (p.Pro2578=)
c.7704T= (p.Pro2568=)
c.7629T= (p.Pro2543=)
c.7527T= (p.Pro2509=)
c.7158T= (p.Pro2386=)
5g.112843602A=CA1573475418APCc.8062A= (p.Arg2688=)
c.*8014A= (n.*8014A=)
c.7954A= (p.Arg2652=)
c.8008A= (p.Arg2670=)
c.231-13047A=
c.8038A= (p.Arg2680=)
c.7933A= (p.Arg2645=)
c.7924A= (p.Arg2642=)
c.7885A= (p.Arg2629=)
c.7831A= (p.Arg2611=)
c.7735A= (p.Arg2579=)
c.7705A= (p.Arg2569=)
c.7630A= (p.Arg2544=)
c.7528A= (p.Arg2510=)
c.7159A= (p.Arg2387=)
5g.112843602A>CCA125167823APCc.8062A>C (p.Arg2688=)
c.*8014A>C (n.*8014A>C)
c.7954A>C (p.Arg2652=)
c.8008A>C (p.Arg2670=)
c.231-13047A>C
c.8038A>C (p.Arg2680=)
c.7933A>C (p.Arg2645=)
c.7924A>C (p.Arg2642=)
c.7885A>C (p.Arg2629=)
c.7831A>C (p.Arg2611=)
c.7735A>C (p.Arg2579=)
c.7705A>C (p.Arg2569=)
c.7630A>C (p.Arg2544=)
c.7528A>C (p.Arg2510=)
c.7159A>C (p.Arg2387=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843602A>GCA16038727APCc.8062A>G (p.Arg2688Gly)
c.*8014A>G (n.*8014A>G)
c.7954A>G (p.Arg2652Gly)
c.8008A>G (p.Arg2670Gly)
c.231-13047A>G
c.8038A>G (p.Arg2680Gly)
c.7933A>G (p.Arg2645Gly)
c.7924A>G (p.Arg2642Gly)
c.7885A>G (p.Arg2629Gly)
c.7831A>G (p.Arg2611Gly)
c.7735A>G (p.Arg2579Gly)
c.7705A>G (p.Arg2569Gly)
c.7630A>G (p.Arg2544Gly)
c.7528A>G (p.Arg2510Gly)
c.7159A>G (p.Arg2387Gly)
ClinVar dbSNP gnomAD v4
5g.112843602A>TCA16038728APCc.8062A>T (p.Arg2688Ter)
c.*8014A>T (n.*8014A>T)
c.7954A>T (p.Arg2652Ter)
c.8008A>T (p.Arg2670Ter)
c.231-13047A>T
c.8038A>T (p.Arg2680Ter)
c.7933A>T (p.Arg2645Ter)
c.7924A>T (p.Arg2642Ter)
c.7885A>T (p.Arg2629Ter)
c.7831A>T (p.Arg2611Ter)
c.7735A>T (p.Arg2579Ter)
c.7705A>T (p.Arg2569Ter)
c.7630A>T (p.Arg2544Ter)
c.7528A>T (p.Arg2510Ter)
c.7159A>T (p.Arg2387Ter)
dbSNP
5g.112843603G>ACA16038729APCc.8063G>A (p.Arg2688Lys)
c.*8015G>A (n.*8015G>A)
c.7955G>A (p.Arg2652Lys)
c.8009G>A (p.Arg2670Lys)
c.231-13046G>A
c.8039G>A (p.Arg2680Lys)
c.7934G>A (p.Arg2645Lys)
c.7925G>A (p.Arg2642Lys)
c.7886G>A (p.Arg2629Lys)
c.7832G>A (p.Arg2611Lys)
c.7736G>A (p.Arg2579Lys)
c.7706G>A (p.Arg2569Lys)
c.7631G>A (p.Arg2544Lys)
c.7529G>A (p.Arg2510Lys)
c.7160G>A (p.Arg2387Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843603G>CCA16038730APCc.8063G>C (p.Arg2688Thr)
c.*8015G>C (n.*8015G>C)
c.7955G>C (p.Arg2652Thr)
c.8009G>C (p.Arg2670Thr)
c.231-13046G>C
c.8039G>C (p.Arg2680Thr)
c.7934G>C (p.Arg2645Thr)
c.7925G>C (p.Arg2642Thr)
c.7886G>C (p.Arg2629Thr)
c.7832G>C (p.Arg2611Thr)
c.7736G>C (p.Arg2579Thr)
c.7706G>C (p.Arg2569Thr)
c.7631G>C (p.Arg2544Thr)
c.7529G>C (p.Arg2510Thr)
c.7160G>C (p.Arg2387Thr)
ClinVar dbSNP
5g.112843603G=CA1573475433APCc.8063G= (p.Arg2688=)
c.*8015G= (n.*8015G=)
c.7955G= (p.Arg2652=)
c.8009G= (p.Arg2670=)
c.231-13046G=
c.8039G= (p.Arg2680=)
c.7934G= (p.Arg2645=)
c.7925G= (p.Arg2642=)
c.7886G= (p.Arg2629=)
c.7832G= (p.Arg2611=)
c.7736G= (p.Arg2579=)
c.7706G= (p.Arg2569=)
c.7631G= (p.Arg2544=)
c.7529G= (p.Arg2510=)
c.7160G= (p.Arg2387=)
5g.112843603G>TCA16038731APCc.8063G>T (p.Arg2688Ile)
c.*8015G>T (n.*8015G>T)
c.7955G>T (p.Arg2652Ile)
c.8009G>T (p.Arg2670Ile)
c.231-13046G>T
c.8039G>T (p.Arg2680Ile)
c.7934G>T (p.Arg2645Ile)
c.7925G>T (p.Arg2642Ile)
c.7886G>T (p.Arg2629Ile)
c.7832G>T (p.Arg2611Ile)
c.7736G>T (p.Arg2579Ile)
c.7706G>T (p.Arg2569Ile)
c.7631G>T (p.Arg2544Ile)
c.7529G>T (p.Arg2510Ile)
c.7160G>T (p.Arg2387Ile)
ClinVar COSMIC
5g.112843604A=CA1573475439APCc.8064A= (p.Arg2688=)
c.*8016A= (n.*8016A=)
c.7956A= (p.Arg2652=)
c.8010A= (p.Arg2670=)
c.231-13045A=
c.8040A= (p.Arg2680=)
c.7935A= (p.Arg2645=)
c.7926A= (p.Arg2642=)
c.7887A= (p.Arg2629=)
c.7833A= (p.Arg2611=)
c.7737A= (p.Arg2579=)
c.7707A= (p.Arg2569=)
c.7632A= (p.Arg2544=)
c.7530A= (p.Arg2510=)
c.7161A= (p.Arg2387=)
5g.112843604A>CCA16038732APCc.8064A>C (p.Arg2688Ser)
c.*8016A>C (n.*8016A>C)
c.7956A>C (p.Arg2652Ser)
c.8010A>C (p.Arg2670Ser)
c.231-13045A>C
c.8040A>C (p.Arg2680Ser)
c.7935A>C (p.Arg2645Ser)
c.7926A>C (p.Arg2642Ser)
c.7887A>C (p.Arg2629Ser)
c.7833A>C (p.Arg2611Ser)
c.7737A>C (p.Arg2579Ser)
c.7707A>C (p.Arg2569Ser)
c.7632A>C (p.Arg2544Ser)
c.7530A>C (p.Arg2510Ser)
c.7161A>C (p.Arg2387Ser)
dbSNP
5g.112843604A>GCA014245APCc.8064A>G (p.Arg2688=)
c.*8016A>G (n.*8016A>G)
c.7956A>G (p.Arg2652=)
c.8010A>G (p.Arg2670=)
c.231-13045A>G
c.8040A>G (p.Arg2680=)
c.7935A>G (p.Arg2645=)
c.7926A>G (p.Arg2642=)
c.7887A>G (p.Arg2629=)
c.7833A>G (p.Arg2611=)
c.7737A>G (p.Arg2579=)
c.7707A>G (p.Arg2569=)
c.7632A>G (p.Arg2544=)
c.7530A>G (p.Arg2510=)
c.7161A>G (p.Arg2387=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843604A>TCA16038733APCc.8064A>T (p.Arg2688Ser)
c.*8016A>T (n.*8016A>T)
c.7956A>T (p.Arg2652Ser)
c.8010A>T (p.Arg2670Ser)
c.231-13045A>T
c.8040A>T (p.Arg2680Ser)
c.7935A>T (p.Arg2645Ser)
c.7926A>T (p.Arg2642Ser)
c.7887A>T (p.Arg2629Ser)
c.7833A>T (p.Arg2611Ser)
c.7737A>T (p.Arg2579Ser)
c.7707A>T (p.Arg2569Ser)
c.7632A>T (p.Arg2544Ser)
c.7530A>T (p.Arg2510Ser)
c.7161A>T (p.Arg2387Ser)
dbSNP
5g.112843605T>ACA16038734APCc.8065T>A (p.Ser2689Thr)
c.*8017T>A (n.*8017T>A)
c.7957T>A (p.Ser2653Thr)
c.8011T>A (p.Ser2671Thr)
c.231-13044T>A
c.8041T>A (p.Ser2681Thr)
c.7936T>A (p.Ser2646Thr)
c.7927T>A (p.Ser2643Thr)
c.7888T>A (p.Ser2630Thr)
c.7834T>A (p.Ser2612Thr)
c.7738T>A (p.Ser2580Thr)
c.7708T>A (p.Ser2570Thr)
c.7633T>A (p.Ser2545Thr)
c.7531T>A (p.Ser2511Thr)
c.7162T>A (p.Ser2388Thr)
dbSNP
5g.112843605T>CCA049627APCc.8065T>C (p.Ser2689Pro)
c.*8017T>C (n.*8017T>C)
c.7957T>C (p.Ser2653Pro)
c.8011T>C (p.Ser2671Pro)
c.231-13044T>C
c.8041T>C (p.Ser2681Pro)
c.7936T>C (p.Ser2646Pro)
c.7927T>C (p.Ser2643Pro)
c.7888T>C (p.Ser2630Pro)
c.7834T>C (p.Ser2612Pro)
c.7738T>C (p.Ser2580Pro)
c.7708T>C (p.Ser2570Pro)
c.7633T>C (p.Ser2545Pro)
c.7531T>C (p.Ser2511Pro)
c.7162T>C (p.Ser2388Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843605T>GCA16038735APCc.8065T>G (p.Ser2689Ala)
c.*8017T>G (n.*8017T>G)
c.7957T>G (p.Ser2653Ala)
c.8011T>G (p.Ser2671Ala)
c.231-13044T>G
c.8041T>G (p.Ser2681Ala)
c.7936T>G (p.Ser2646Ala)
c.7927T>G (p.Ser2643Ala)
c.7888T>G (p.Ser2630Ala)
c.7834T>G (p.Ser2612Ala)
c.7738T>G (p.Ser2580Ala)
c.7708T>G (p.Ser2570Ala)
c.7633T>G (p.Ser2545Ala)
c.7531T>G (p.Ser2511Ala)
c.7162T>G (p.Ser2388Ala)
gnomAD v4
5g.112843605T=CA1573475460APCc.8065T= (p.Ser2689=)
c.*8017T= (n.*8017T=)
c.7957T= (p.Ser2653=)
c.8011T= (p.Ser2671=)
c.231-13044T=
c.8041T= (p.Ser2681=)
c.7936T= (p.Ser2646=)
c.7927T= (p.Ser2643=)
c.7888T= (p.Ser2630=)
c.7834T= (p.Ser2612=)
c.7738T= (p.Ser2580=)
c.7708T= (p.Ser2570=)
c.7633T= (p.Ser2545=)
c.7531T= (p.Ser2511=)
c.7162T= (p.Ser2388=)
5g.112843606C>ACA16038736APCc.8066C>A (p.Ser2689Tyr)
c.*8018C>A (n.*8018C>A)
c.7958C>A (p.Ser2653Tyr)
c.8012C>A (p.Ser2671Tyr)
c.231-13043C>A
c.8042C>A (p.Ser2681Tyr)
c.7937C>A (p.Ser2646Tyr)
c.7928C>A (p.Ser2643Tyr)
c.7889C>A (p.Ser2630Tyr)
c.7835C>A (p.Ser2612Tyr)
c.7739C>A (p.Ser2580Tyr)
c.7709C>A (p.Ser2570Tyr)
c.7634C>A (p.Ser2545Tyr)
c.7532C>A (p.Ser2511Tyr)
c.7163C>A (p.Ser2388Tyr)
dbSNP
5g.112843606C>GCA16038737APCc.8066C>G (p.Ser2689Cys)
c.*8018C>G (n.*8018C>G)
c.7958C>G (p.Ser2653Cys)
c.8012C>G (p.Ser2671Cys)
c.231-13043C>G
c.8042C>G (p.Ser2681Cys)
c.7937C>G (p.Ser2646Cys)
c.7928C>G (p.Ser2643Cys)
c.7889C>G (p.Ser2630Cys)
c.7835C>G (p.Ser2612Cys)
c.7739C>G (p.Ser2580Cys)
c.7709C>G (p.Ser2570Cys)
c.7634C>G (p.Ser2545Cys)
c.7532C>G (p.Ser2511Cys)
c.7163C>G (p.Ser2388Cys)
dbSNP
5g.112843606C>TCA16038738APCc.8066C>T (p.Ser2689Phe)
c.*8018C>T (n.*8018C>T)
c.7958C>T (p.Ser2653Phe)
c.8012C>T (p.Ser2671Phe)
c.231-13043C>T
c.8042C>T (p.Ser2681Phe)
c.7937C>T (p.Ser2646Phe)
c.7928C>T (p.Ser2643Phe)
c.7889C>T (p.Ser2630Phe)
c.7835C>T (p.Ser2612Phe)
c.7739C>T (p.Ser2580Phe)
c.7709C>T (p.Ser2570Phe)
c.7634C>T (p.Ser2545Phe)
c.7532C>T (p.Ser2511Phe)
c.7163C>T (p.Ser2388Phe)
dbSNP
5g.112843607T>ACA446211013APCc.8067T>A (p.Ser2689=)
c.*8019T>A (n.*8019T>A)
c.7959T>A (p.Ser2653=)
c.8013T>A (p.Ser2671=)
c.231-13042T>A
c.8043T>A (p.Ser2681=)
c.7938T>A (p.Ser2646=)
c.7929T>A (p.Ser2643=)
c.7890T>A (p.Ser2630=)
c.7836T>A (p.Ser2612=)
c.7740T>A (p.Ser2580=)
c.7710T>A (p.Ser2570=)
c.7635T>A (p.Ser2545=)
c.7533T>A (p.Ser2511=)
c.7164T>A (p.Ser2388=)
dbSNP
5g.112843607T>CCA446211014APCc.8067T>C (p.Ser2689=)
c.*8019T>C (n.*8019T>C)
c.7959T>C (p.Ser2653=)
c.8013T>C (p.Ser2671=)
c.231-13042T>C
c.8043T>C (p.Ser2681=)
c.7938T>C (p.Ser2646=)
c.7929T>C (p.Ser2643=)
c.7890T>C (p.Ser2630=)
c.7836T>C (p.Ser2612=)
c.7740T>C (p.Ser2580=)
c.7710T>C (p.Ser2570=)
c.7635T>C (p.Ser2545=)
c.7533T>C (p.Ser2511=)
c.7164T>C (p.Ser2388=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112843607T>GCA446211012APCc.8067T>G (p.Ser2689=)
c.*8019T>G (n.*8019T>G)
c.7959T>G (p.Ser2653=)
c.8013T>G (p.Ser2671=)
c.231-13042T>G
c.8043T>G (p.Ser2681=)
c.7938T>G (p.Ser2646=)
c.7929T>G (p.Ser2643=)
c.7890T>G (p.Ser2630=)
c.7836T>G (p.Ser2612=)
c.7740T>G (p.Ser2580=)
c.7710T>G (p.Ser2570=)
c.7635T>G (p.Ser2545=)
c.7533T>G (p.Ser2511=)
c.7164T>G (p.Ser2388=)
5g.112843607T=CA1573475469APCc.8067T= (p.Ser2689=)
c.*8019T= (n.*8019T=)
c.7959T= (p.Ser2653=)
c.8013T= (p.Ser2671=)
c.231-13042T=
c.8043T= (p.Ser2681=)
c.7938T= (p.Ser2646=)
c.7929T= (p.Ser2643=)
c.7890T= (p.Ser2630=)
c.7836T= (p.Ser2612=)
c.7740T= (p.Ser2580=)
c.7710T= (p.Ser2570=)
c.7635T= (p.Ser2545=)
c.7533T= (p.Ser2511=)
c.7164T= (p.Ser2388=)
5g.112843608G>ACA16038739APCc.8068G>A (p.Gly2690Arg)
c.*8020G>A (n.*8020G>A)
c.7960G>A (p.Gly2654Arg)
c.8014G>A (p.Gly2672Arg)
c.231-13041G>A
c.8044G>A (p.Gly2682Arg)
c.7939G>A (p.Gly2647Arg)
c.7930G>A (p.Gly2644Arg)
c.7891G>A (p.Gly2631Arg)
c.7837G>A (p.Gly2613Arg)
c.7741G>A (p.Gly2581Arg)
c.7711G>A (p.Gly2571Arg)
c.7636G>A (p.Gly2546Arg)
c.7534G>A (p.Gly2512Arg)
c.7165G>A (p.Gly2389Arg)
5g.112843608G>CCA16038740APCc.8068G>C (p.Gly2690Arg)
c.*8020G>C (n.*8020G>C)
c.7960G>C (p.Gly2654Arg)
c.8014G>C (p.Gly2672Arg)
c.231-13041G>C
c.8044G>C (p.Gly2682Arg)
c.7939G>C (p.Gly2647Arg)
c.7930G>C (p.Gly2644Arg)
c.7891G>C (p.Gly2631Arg)
c.7837G>C (p.Gly2613Arg)
c.7741G>C (p.Gly2581Arg)
c.7711G>C (p.Gly2571Arg)
c.7636G>C (p.Gly2546Arg)
c.7534G>C (p.Gly2512Arg)
c.7165G>C (p.Gly2389Arg)
5g.112843608G>TCA16038741APCc.8068G>T (p.Gly2690Ter)
c.*8020G>T (n.*8020G>T)
c.7960G>T (p.Gly2654Ter)
c.8014G>T (p.Gly2672Ter)
c.231-13041G>T
c.8044G>T (p.Gly2682Ter)
c.7939G>T (p.Gly2647Ter)
c.7930G>T (p.Gly2644Ter)
c.7891G>T (p.Gly2631Ter)
c.7837G>T (p.Gly2613Ter)
c.7741G>T (p.Gly2581Ter)
c.7711G>T (p.Gly2571Ter)
c.7636G>T (p.Gly2546Ter)
c.7534G>T (p.Gly2512Ter)
c.7165G>T (p.Gly2389Ter)
5g.112843609G>ACA049647APCc.8069G>A (p.Gly2690Glu)
c.*8021G>A (n.*8021G>A)
c.7961G>A (p.Gly2654Glu)
c.8015G>A (p.Gly2672Glu)
c.231-13040G>A
c.8045G>A (p.Gly2682Glu)
c.7940G>A (p.Gly2647Glu)
c.7931G>A (p.Gly2644Glu)
c.7892G>A (p.Gly2631Glu)
c.7838G>A (p.Gly2613Glu)
c.7742G>A (p.Gly2581Glu)
c.7712G>A (p.Gly2571Glu)
c.7637G>A (p.Gly2546Glu)
c.7535G>A (p.Gly2512Glu)
c.7166G>A (p.Gly2389Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843609G>CCA16038742APCc.8069G>C (p.Gly2690Ala)
c.*8021G>C (n.*8021G>C)
c.7961G>C (p.Gly2654Ala)
c.8015G>C (p.Gly2672Ala)
c.231-13040G>C
c.8045G>C (p.Gly2682Ala)
c.7940G>C (p.Gly2647Ala)
c.7931G>C (p.Gly2644Ala)
c.7892G>C (p.Gly2631Ala)
c.7838G>C (p.Gly2613Ala)
c.7742G>C (p.Gly2581Ala)
c.7712G>C (p.Gly2571Ala)
c.7637G>C (p.Gly2546Ala)
c.7535G>C (p.Gly2512Ala)
c.7166G>C (p.Gly2389Ala)
ClinVar dbSNP
5g.112843609G=CA1573475477APCc.8069G= (p.Gly2690=)
c.*8021G= (n.*8021G=)
c.7961G= (p.Gly2654=)
c.8015G= (p.Gly2672=)
c.231-13040G=
c.8045G= (p.Gly2682=)
c.7940G= (p.Gly2647=)
c.7931G= (p.Gly2644=)
c.7892G= (p.Gly2631=)
c.7838G= (p.Gly2613=)
c.7742G= (p.Gly2581=)
c.7712G= (p.Gly2571=)
c.7637G= (p.Gly2546=)
c.7535G= (p.Gly2512=)
c.7166G= (p.Gly2389=)
5g.112843609G>TCA16038743APCc.8069G>T (p.Gly2690Val)
c.*8021G>T (n.*8021G>T)
c.7961G>T (p.Gly2654Val)
c.8015G>T (p.Gly2672Val)
c.231-13040G>T
c.8045G>T (p.Gly2682Val)
c.7940G>T (p.Gly2647Val)
c.7931G>T (p.Gly2644Val)
c.7892G>T (p.Gly2631Val)
c.7838G>T (p.Gly2613Val)
c.7742G>T (p.Gly2581Val)
c.7712G>T (p.Gly2571Val)
c.7637G>T (p.Gly2546Val)
c.7535G>T (p.Gly2512Val)
c.7166G>T (p.Gly2389Val)
ClinVar dbSNP
5g.112843610A>CCA446211017APCc.8070A>C (p.Gly2690=)
c.*8022A>C (n.*8022A>C)
c.7962A>C (p.Gly2654=)
c.8016A>C (p.Gly2672=)
c.231-13039A>C
c.8046A>C (p.Gly2682=)
c.7941A>C (p.Gly2647=)
c.7932A>C (p.Gly2644=)
c.7893A>C (p.Gly2631=)
c.7839A>C (p.Gly2613=)
c.7743A>C (p.Gly2581=)
c.7713A>C (p.Gly2571=)
c.7638A>C (p.Gly2546=)
c.7536A>C (p.Gly2512=)
c.7167A>C (p.Gly2389=)
ClinVar
5g.112843610A>GCA446211015APCc.8070A>G (p.Gly2690=)
c.*8022A>G (n.*8022A>G)
c.7962A>G (p.Gly2654=)
c.8016A>G (p.Gly2672=)
c.231-13039A>G
c.8046A>G (p.Gly2682=)
c.7941A>G (p.Gly2647=)
c.7932A>G (p.Gly2644=)
c.7893A>G (p.Gly2631=)
c.7839A>G (p.Gly2613=)
c.7743A>G (p.Gly2581=)
c.7713A>G (p.Gly2571=)
c.7638A>G (p.Gly2546=)
c.7536A>G (p.Gly2512=)
c.7167A>G (p.Gly2389=)
ClinVar dbSNP
5g.112843610A>TCA446211016APCc.8070A>T (p.Gly2690=)
c.*8022A>T (n.*8022A>T)
c.7962A>T (p.Gly2654=)
c.8016A>T (p.Gly2672=)
c.231-13039A>T
c.8046A>T (p.Gly2682=)
c.7941A>T (p.Gly2647=)
c.7932A>T (p.Gly2644=)
c.7893A>T (p.Gly2631=)
c.7839A>T (p.Gly2613=)
c.7743A>T (p.Gly2581=)
c.7713A>T (p.Gly2571=)
c.7638A>T (p.Gly2546=)
c.7536A>T (p.Gly2512=)
c.7167A>T (p.Gly2389=)
dbSNP
5g.112843611A=CA1573475484APCc.8071A= (p.Arg2691=)
c.*8023A= (n.*8023A=)
c.7963A= (p.Arg2655=)
c.8017A= (p.Arg2673=)
c.231-13038A=
c.8047A= (p.Arg2683=)
c.7942A= (p.Arg2648=)
c.7933A= (p.Arg2645=)
c.7894A= (p.Arg2632=)
c.7840A= (p.Arg2614=)
c.7744A= (p.Arg2582=)
c.7714A= (p.Arg2572=)
c.7639A= (p.Arg2547=)
c.7537A= (p.Arg2513=)
c.7168A= (p.Arg2390=)
5g.112843611A>CCA16611753APCc.8071A>C (p.Arg2691=)
c.*8023A>C (n.*8023A>C)
c.7963A>C (p.Arg2655=)
c.8017A>C (p.Arg2673=)
c.231-13038A>C
c.8047A>C (p.Arg2683=)
c.7942A>C (p.Arg2648=)
c.7933A>C (p.Arg2645=)
c.7894A>C (p.Arg2632=)
c.7840A>C (p.Arg2614=)
c.7744A>C (p.Arg2582=)
c.7714A>C (p.Arg2572=)
c.7639A>C (p.Arg2547=)
c.7537A>C (p.Arg2513=)
c.7168A>C (p.Arg2390=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843611A>GCA049665APCc.8071A>G (p.Arg2691Gly)
c.*8023A>G (n.*8023A>G)
c.7963A>G (p.Arg2655Gly)
c.8017A>G (p.Arg2673Gly)
c.231-13038A>G
c.8047A>G (p.Arg2683Gly)
c.7942A>G (p.Arg2648Gly)
c.7933A>G (p.Arg2645Gly)
c.7894A>G (p.Arg2632Gly)
c.7840A>G (p.Arg2614Gly)
c.7744A>G (p.Arg2582Gly)
c.7714A>G (p.Arg2572Gly)
c.7639A>G (p.Arg2547Gly)
c.7537A>G (p.Arg2513Gly)
c.7168A>G (p.Arg2390Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843611A>TCA16038744APCc.8071A>T (p.Arg2691Ter)
c.*8023A>T (n.*8023A>T)
c.7963A>T (p.Arg2655Ter)
c.8017A>T (p.Arg2673Ter)
c.231-13038A>T
c.8047A>T (p.Arg2683Ter)
c.7942A>T (p.Arg2648Ter)
c.7933A>T (p.Arg2645Ter)
c.7894A>T (p.Arg2632Ter)
c.7840A>T (p.Arg2614Ter)
c.7744A>T (p.Arg2582Ter)
c.7714A>T (p.Arg2572Ter)
c.7639A>T (p.Arg2547Ter)
c.7537A>T (p.Arg2513Ter)
c.7168A>T (p.Arg2390Ter)
dbSNP
5g.112843612G>ACA16038745APCc.8072G>A (p.Arg2691Lys)
c.*8024G>A (n.*8024G>A)
c.7964G>A (p.Arg2655Lys)
c.8018G>A (p.Arg2673Lys)
c.231-13037G>A
c.8048G>A (p.Arg2683Lys)
c.7943G>A (p.Arg2648Lys)
c.7934G>A (p.Arg2645Lys)
c.7895G>A (p.Arg2632Lys)
c.7841G>A (p.Arg2614Lys)
c.7745G>A (p.Arg2582Lys)
c.7715G>A (p.Arg2572Lys)
c.7640G>A (p.Arg2547Lys)
c.7538G>A (p.Arg2513Lys)
c.7169G>A (p.Arg2390Lys)
ClinVar dbSNP
5g.112843612G>CCA16038746APCc.8072G>C (p.Arg2691Thr)
c.*8024G>C (n.*8024G>C)
c.7964G>C (p.Arg2655Thr)
c.8018G>C (p.Arg2673Thr)
c.231-13037G>C
c.8048G>C (p.Arg2683Thr)
c.7943G>C (p.Arg2648Thr)
c.7934G>C (p.Arg2645Thr)
c.7895G>C (p.Arg2632Thr)
c.7841G>C (p.Arg2614Thr)
c.7745G>C (p.Arg2582Thr)
c.7715G>C (p.Arg2572Thr)
c.7640G>C (p.Arg2547Thr)
c.7538G>C (p.Arg2513Thr)
c.7169G>C (p.Arg2390Thr)
dbSNP
5g.112843612G=CA1573475489APCc.8072G= (p.Arg2691=)
c.*8024G= (n.*8024G=)
c.7964G= (p.Arg2655=)
c.8018G= (p.Arg2673=)
c.231-13037G=
c.8048G= (p.Arg2683=)
c.7943G= (p.Arg2648=)
c.7934G= (p.Arg2645=)
c.7895G= (p.Arg2632=)
c.7841G= (p.Arg2614=)
c.7745G= (p.Arg2582=)
c.7715G= (p.Arg2572=)
c.7640G= (p.Arg2547=)
c.7538G= (p.Arg2513=)
c.7169G= (p.Arg2390=)
5g.112843612G>TCA16038747APCc.8072G>T (p.Arg2691Ile)
c.*8024G>T (n.*8024G>T)
c.7964G>T (p.Arg2655Ile)
c.8018G>T (p.Arg2673Ile)
c.231-13037G>T
c.8048G>T (p.Arg2683Ile)
c.7943G>T (p.Arg2648Ile)
c.7934G>T (p.Arg2645Ile)
c.7895G>T (p.Arg2632Ile)
c.7841G>T (p.Arg2614Ile)
c.7745G>T (p.Arg2582Ile)
c.7715G>T (p.Arg2572Ile)
c.7640G>T (p.Arg2547Ile)
c.7538G>T (p.Arg2513Ile)
c.7169G>T (p.Arg2390Ile)
ClinVar
5g.112843613A>CCA16038748APCc.8073A>C (p.Arg2691Ser)
c.*8025A>C (n.*8025A>C)
c.7965A>C (p.Arg2655Ser)
c.8019A>C (p.Arg2673Ser)
c.231-13036A>C
c.8049A>C (p.Arg2683Ser)
c.7944A>C (p.Arg2648Ser)
c.7935A>C (p.Arg2645Ser)
c.7896A>C (p.Arg2632Ser)
c.7842A>C (p.Arg2614Ser)
c.7746A>C (p.Arg2582Ser)
c.7716A>C (p.Arg2572Ser)
c.7641A>C (p.Arg2547Ser)
c.7539A>C (p.Arg2513Ser)
c.7170A>C (p.Arg2390Ser)
ClinVar dbSNP
5g.112843613A>GCA446211018APCc.8073A>G (p.Arg2691=)
c.*8025A>G (n.*8025A>G)
c.7965A>G (p.Arg2655=)
c.8019A>G (p.Arg2673=)
c.231-13036A>G
c.8049A>G (p.Arg2683=)
c.7944A>G (p.Arg2648=)
c.7935A>G (p.Arg2645=)
c.7896A>G (p.Arg2632=)
c.7842A>G (p.Arg2614=)
c.7746A>G (p.Arg2582=)
c.7716A>G (p.Arg2572=)
c.7641A>G (p.Arg2547=)
c.7539A>G (p.Arg2513=)
c.7170A>G (p.Arg2390=)
gnomAD v4
5g.112843613A>TCA16038749APCc.8073A>T (p.Arg2691Ser)
c.*8025A>T (n.*8025A>T)
c.7965A>T (p.Arg2655Ser)
c.8019A>T (p.Arg2673Ser)
c.231-13036A>T
c.8049A>T (p.Arg2683Ser)
c.7944A>T (p.Arg2648Ser)
c.7935A>T (p.Arg2645Ser)
c.7896A>T (p.Arg2632Ser)
c.7842A>T (p.Arg2614Ser)
c.7746A>T (p.Arg2582Ser)
c.7716A>T (p.Arg2572Ser)
c.7641A>T (p.Arg2547Ser)
c.7539A>T (p.Arg2513Ser)
c.7170A>T (p.Arg2390Ser)
dbSNP
5g.112843614T>ACA16038750APCc.8074T>A (p.Ser2692Thr)
c.*8026T>A (n.*8026T>A)
c.7966T>A (p.Ser2656Thr)
c.8020T>A (p.Ser2674Thr)
c.231-13035T>A
c.8050T>A (p.Ser2684Thr)
c.7945T>A (p.Ser2649Thr)
c.7936T>A (p.Ser2646Thr)
c.7897T>A (p.Ser2633Thr)
c.7843T>A (p.Ser2615Thr)
c.7747T>A (p.Ser2583Thr)
c.7717T>A (p.Ser2573Thr)
c.7642T>A (p.Ser2548Thr)
c.7540T>A (p.Ser2514Thr)
c.7171T>A (p.Ser2391Thr)
dbSNP
5g.112843614T>CCA16038751APCc.8074T>C (p.Ser2692Pro)
c.*8026T>C (n.*8026T>C)
c.7966T>C (p.Ser2656Pro)
c.8020T>C (p.Ser2674Pro)
c.231-13035T>C
c.8050T>C (p.Ser2684Pro)
c.7945T>C (p.Ser2649Pro)
c.7936T>C (p.Ser2646Pro)
c.7897T>C (p.Ser2633Pro)
c.7843T>C (p.Ser2615Pro)
c.7747T>C (p.Ser2583Pro)
c.7717T>C (p.Ser2573Pro)
c.7642T>C (p.Ser2548Pro)
c.7540T>C (p.Ser2514Pro)
c.7171T>C (p.Ser2391Pro)
ClinVar dbSNP gnomAD v4
5g.112843614T>GCA16038752APCc.8074T>G (p.Ser2692Ala)
c.*8026T>G (n.*8026T>G)
c.7966T>G (p.Ser2656Ala)
c.8020T>G (p.Ser2674Ala)
c.231-13035T>G
c.8050T>G (p.Ser2684Ala)
c.7945T>G (p.Ser2649Ala)
c.7936T>G (p.Ser2646Ala)
c.7897T>G (p.Ser2633Ala)
c.7843T>G (p.Ser2615Ala)
c.7747T>G (p.Ser2583Ala)
c.7717T>G (p.Ser2573Ala)
c.7642T>G (p.Ser2548Ala)
c.7540T>G (p.Ser2514Ala)
c.7171T>G (p.Ser2391Ala)
5g.112843614T=CA1573475494APCc.8074T= (p.Ser2692=)
c.*8026T= (n.*8026T=)
c.7966T= (p.Ser2656=)
c.8020T= (p.Ser2674=)
c.231-13035T=
c.8050T= (p.Ser2684=)
c.7945T= (p.Ser2649=)
c.7936T= (p.Ser2646=)
c.7897T= (p.Ser2633=)
c.7843T= (p.Ser2615=)
c.7747T= (p.Ser2583=)
c.7717T= (p.Ser2573=)
c.7642T= (p.Ser2548=)
c.7540T= (p.Ser2514=)
c.7171T= (p.Ser2391=)
5g.112843615C>ACA16038753APCc.8075C>A (p.Ser2692Tyr)
c.*8027C>A (n.*8027C>A)
c.7967C>A (p.Ser2656Tyr)
c.8021C>A (p.Ser2674Tyr)
c.231-13034C>A
c.8051C>A (p.Ser2684Tyr)
c.7946C>A (p.Ser2649Tyr)
c.7937C>A (p.Ser2646Tyr)
c.7898C>A (p.Ser2633Tyr)
c.7844C>A (p.Ser2615Tyr)
c.7748C>A (p.Ser2583Tyr)
c.7718C>A (p.Ser2573Tyr)
c.7643C>A (p.Ser2548Tyr)
c.7541C>A (p.Ser2514Tyr)
c.7172C>A (p.Ser2391Tyr)
COSMIC
5g.112843615C>GCA16038754APCc.8075C>G (p.Ser2692Cys)
c.*8027C>G (n.*8027C>G)
c.7967C>G (p.Ser2656Cys)
c.8021C>G (p.Ser2674Cys)
c.231-13034C>G
c.8051C>G (p.Ser2684Cys)
c.7946C>G (p.Ser2649Cys)
c.7937C>G (p.Ser2646Cys)
c.7898C>G (p.Ser2633Cys)
c.7844C>G (p.Ser2615Cys)
c.7748C>G (p.Ser2583Cys)
c.7718C>G (p.Ser2573Cys)
c.7643C>G (p.Ser2548Cys)
c.7541C>G (p.Ser2514Cys)
c.7172C>G (p.Ser2391Cys)
dbSNP
5g.112843615C>TCA16038755APCc.8075C>T (p.Ser2692Phe)
c.*8027C>T (n.*8027C>T)
c.7967C>T (p.Ser2656Phe)
c.8021C>T (p.Ser2674Phe)
c.231-13034C>T
c.8051C>T (p.Ser2684Phe)
c.7946C>T (p.Ser2649Phe)
c.7937C>T (p.Ser2646Phe)
c.7898C>T (p.Ser2633Phe)
c.7844C>T (p.Ser2615Phe)
c.7748C>T (p.Ser2583Phe)
c.7718C>T (p.Ser2573Phe)
c.7643C>T (p.Ser2548Phe)
c.7541C>T (p.Ser2514Phe)
c.7172C>T (p.Ser2391Phe)
ClinVar dbSNP gnomAD v4
5g.112843620_112843634delCA2695204980APCc.8080_8094del (p.Thr2694_Pro2698del)
c.*8032_*8046del (n.*8032_*8046del)
c.7972_7986del (p.Thr2658_Pro2662del)
c.8026_8040del (p.Thr2676_Pro2680del)
c.231-13029_231-13015del
c.8056_8070del (p.Thr2686_Pro2690del)
c.7951_7965del (p.Thr2651_Pro2655del)
c.7942_7956del (p.Thr2648_Pro2652del)
c.7903_7917del (p.Thr2635_Pro2639del)
c.7849_7863del (p.Thr2617_Pro2621del)
c.7753_7767del (p.Thr2585_Pro2589del)
c.7723_7737del (p.Thr2575_Pro2579del)
c.7648_7662del (p.Thr2550_Pro2554del)
c.7546_7560del (p.Thr2516_Pro2520del)
c.7177_7191del (p.Thr2393_Pro2397del)
5g.112843616T>ACA446211019APCc.8076T>A (p.Ser2692=)
c.*8028T>A (n.*8028T>A)
c.7968T>A (p.Ser2656=)
c.8022T>A (p.Ser2674=)
c.231-13033T>A
c.8052T>A (p.Ser2684=)
c.7947T>A (p.Ser2649=)
c.7938T>A (p.Ser2646=)
c.7899T>A (p.Ser2633=)
c.7845T>A (p.Ser2615=)
c.7749T>A (p.Ser2583=)
c.7719T>A (p.Ser2573=)
c.7644T>A (p.Ser2548=)
c.7542T>A (p.Ser2514=)
c.7173T>A (p.Ser2391=)
5g.112843616T>CCA446211020APCc.8076T>C (p.Ser2692=)
c.*8028T>C (n.*8028T>C)
c.7968T>C (p.Ser2656=)
c.8022T>C (p.Ser2674=)
c.231-13033T>C
c.8052T>C (p.Ser2684=)
c.7947T>C (p.Ser2649=)
c.7938T>C (p.Ser2646=)
c.7899T>C (p.Ser2633=)
c.7845T>C (p.Ser2615=)
c.7749T>C (p.Ser2583=)
c.7719T>C (p.Ser2573=)
c.7644T>C (p.Ser2548=)
c.7542T>C (p.Ser2514=)
c.7173T>C (p.Ser2391=)
5g.112843616T>GCA446211021APCc.8076T>G (p.Ser2692=)
c.*8028T>G (n.*8028T>G)
c.7968T>G (p.Ser2656=)
c.8022T>G (p.Ser2674=)
c.231-13033T>G
c.8052T>G (p.Ser2684=)
c.7947T>G (p.Ser2649=)
c.7938T>G (p.Ser2646=)
c.7899T>G (p.Ser2633=)
c.7845T>G (p.Ser2615=)
c.7749T>G (p.Ser2583=)
c.7719T>G (p.Ser2573=)
c.7644T>G (p.Ser2548=)
c.7542T>G (p.Ser2514=)
c.7173T>G (p.Ser2391=)
5g.112843617C>ACA16038756APCc.8077C>A (p.Pro2693Thr)
c.*8029C>A (n.*8029C>A)
c.7969C>A (p.Pro2657Thr)
c.8023C>A (p.Pro2675Thr)
c.231-13032C>A
c.8053C>A (p.Pro2685Thr)
c.7948C>A (p.Pro2650Thr)
c.7939C>A (p.Pro2647Thr)
c.7900C>A (p.Pro2634Thr)
c.7846C>A (p.Pro2616Thr)
c.7750C>A (p.Pro2584Thr)
c.7720C>A (p.Pro2574Thr)
c.7645C>A (p.Pro2549Thr)
c.7543C>A (p.Pro2515Thr)
c.7174C>A (p.Pro2392Thr)
5g.112843617C=CA1573475531APCc.8077C= (p.Pro2693=)
c.*8029C= (n.*8029C=)
c.7969C= (p.Pro2657=)
c.8023C= (p.Pro2675=)
c.231-13032C=
c.8053C= (p.Pro2685=)
c.7948C= (p.Pro2650=)
c.7939C= (p.Pro2647=)
c.7900C= (p.Pro2634=)
c.7846C= (p.Pro2616=)
c.7750C= (p.Pro2584=)
c.7720C= (p.Pro2574=)
c.7645C= (p.Pro2549=)
c.7543C= (p.Pro2515=)
c.7174C= (p.Pro2392=)
5g.112843617C>GCA16038757APCc.8077C>G (p.Pro2693Ala)
c.*8029C>G (n.*8029C>G)
c.7969C>G (p.Pro2657Ala)
c.8023C>G (p.Pro2675Ala)
c.231-13032C>G
c.8053C>G (p.Pro2685Ala)
c.7948C>G (p.Pro2650Ala)
c.7939C>G (p.Pro2647Ala)
c.7900C>G (p.Pro2634Ala)
c.7846C>G (p.Pro2616Ala)
c.7750C>G (p.Pro2584Ala)
c.7720C>G (p.Pro2574Ala)
c.7645C>G (p.Pro2549Ala)
c.7543C>G (p.Pro2515Ala)
c.7174C>G (p.Pro2392Ala)
5g.112843617C>TCA16038758APCc.8077C>T (p.Pro2693Ser)
c.*8029C>T (n.*8029C>T)
c.7969C>T (p.Pro2657Ser)
c.8023C>T (p.Pro2675Ser)
c.231-13032C>T
c.8053C>T (p.Pro2685Ser)
c.7948C>T (p.Pro2650Ser)
c.7939C>T (p.Pro2647Ser)
c.7900C>T (p.Pro2634Ser)
c.7846C>T (p.Pro2616Ser)
c.7750C>T (p.Pro2584Ser)
c.7720C>T (p.Pro2574Ser)
c.7645C>T (p.Pro2549Ser)
c.7543C>T (p.Pro2515Ser)
c.7174C>T (p.Pro2392Ser)
ClinVar dbSNP
5g.112843619delCA2582341639APCc.8079del (p.Thr2694GlnfsTer7)
c.*8031del (n.*8031del)
c.7971del (p.Thr2658GlnfsTer7)
c.8025del (p.Thr2676GlnfsTer7)
c.231-13030del
c.8055del (p.Thr2686GlnfsTer7)
c.7950del (p.Thr2651GlnfsTer7)
c.7941del (p.Thr2648GlnfsTer7)
c.7902del (p.Thr2635GlnfsTer7)
c.7848del (p.Thr2617GlnfsTer7)
c.7752del (p.Thr2585GlnfsTer7)
c.7722del (p.Thr2575GlnfsTer7)
c.7647del (p.Thr2550GlnfsTer7)
c.7545del (p.Thr2516GlnfsTer7)
c.7176del (p.Thr2393GlnfsTer7)
ClinVar
5g.112843618C>ACA16038759APCc.8078C>A (p.Pro2693His)
c.*8030C>A (n.*8030C>A)
c.7970C>A (p.Pro2657His)
c.8024C>A (p.Pro2675His)
c.231-13031C>A
c.8054C>A (p.Pro2685His)
c.7949C>A (p.Pro2650His)
c.7940C>A (p.Pro2647His)
c.7901C>A (p.Pro2634His)
c.7847C>A (p.Pro2616His)
c.7751C>A (p.Pro2584His)
c.7721C>A (p.Pro2574His)
c.7646C>A (p.Pro2549His)
c.7544C>A (p.Pro2515His)
c.7175C>A (p.Pro2392His)
dbSNP
5g.112843618C>GCA16038760APCc.8078C>G (p.Pro2693Arg)
c.*8030C>G (n.*8030C>G)
c.7970C>G (p.Pro2657Arg)
c.8024C>G (p.Pro2675Arg)
c.231-13031C>G
c.8054C>G (p.Pro2685Arg)
c.7949C>G (p.Pro2650Arg)
c.7940C>G (p.Pro2647Arg)
c.7901C>G (p.Pro2634Arg)
c.7847C>G (p.Pro2616Arg)
c.7751C>G (p.Pro2584Arg)
c.7721C>G (p.Pro2574Arg)
c.7646C>G (p.Pro2549Arg)
c.7544C>G (p.Pro2515Arg)
c.7175C>G (p.Pro2392Arg)
dbSNP
5g.112843618C>TCA16038761APCc.8078C>T (p.Pro2693Leu)
c.*8030C>T (n.*8030C>T)
c.7970C>T (p.Pro2657Leu)
c.8024C>T (p.Pro2675Leu)
c.231-13031C>T
c.8054C>T (p.Pro2685Leu)
c.7949C>T (p.Pro2650Leu)
c.7940C>T (p.Pro2647Leu)
c.7901C>T (p.Pro2634Leu)
c.7847C>T (p.Pro2616Leu)
c.7751C>T (p.Pro2584Leu)
c.7721C>T (p.Pro2574Leu)
c.7646C>T (p.Pro2549Leu)
c.7544C>T (p.Pro2515Leu)
c.7175C>T (p.Pro2392Leu)
dbSNP
5g.112843619C>ACA446211022APCc.8079C>A (p.Pro2693=)
c.*8031C>A (n.*8031C>A)
c.7971C>A (p.Pro2657=)
c.8025C>A (p.Pro2675=)
c.231-13030C>A
c.8055C>A (p.Pro2685=)
c.7950C>A (p.Pro2650=)
c.7941C>A (p.Pro2647=)
c.7902C>A (p.Pro2634=)
c.7848C>A (p.Pro2616=)
c.7752C>A (p.Pro2584=)
c.7722C>A (p.Pro2574=)
c.7647C>A (p.Pro2549=)
c.7545C>A (p.Pro2515=)
c.7176C>A (p.Pro2392=)
5g.112843619C=CA1573475542APCc.8079C= (p.Pro2693=)
c.*8031C= (n.*8031C=)
c.7971C= (p.Pro2657=)
c.8025C= (p.Pro2675=)
c.231-13030C=
c.8055C= (p.Pro2685=)
c.7950C= (p.Pro2650=)
c.7941C= (p.Pro2647=)
c.7902C= (p.Pro2634=)
c.7848C= (p.Pro2616=)
c.7752C= (p.Pro2584=)
c.7722C= (p.Pro2574=)
c.7647C= (p.Pro2549=)
c.7545C= (p.Pro2515=)
c.7176C= (p.Pro2392=)
5g.112843619C>GCA446211023APCc.8079C>G (p.Pro2693=)
c.*8031C>G (n.*8031C>G)
c.7971C>G (p.Pro2657=)
c.8025C>G (p.Pro2675=)
c.231-13030C>G
c.8055C>G (p.Pro2685=)
c.7950C>G (p.Pro2650=)
c.7941C>G (p.Pro2647=)
c.7902C>G (p.Pro2634=)
c.7848C>G (p.Pro2616=)
c.7752C>G (p.Pro2584=)
c.7722C>G (p.Pro2574=)
c.7647C>G (p.Pro2549=)
c.7545C>G (p.Pro2515=)
c.7176C>G (p.Pro2392=)
ClinVar dbSNP
5g.112843619C>TCA446211024APCc.8079C>T (p.Pro2693=)
c.*8031C>T (n.*8031C>T)
c.7971C>T (p.Pro2657=)
c.8025C>T (p.Pro2675=)
c.231-13030C>T
c.8055C>T (p.Pro2685=)
c.7950C>T (p.Pro2650=)
c.7941C>T (p.Pro2647=)
c.7902C>T (p.Pro2634=)
c.7848C>T (p.Pro2616=)
c.7752C>T (p.Pro2584=)
c.7722C>T (p.Pro2574=)
c.7647C>T (p.Pro2549=)
c.7545C>T (p.Pro2515=)
c.7176C>T (p.Pro2392=)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112843620A=CA1573475553APCc.8080A= (p.Thr2694=)
c.*8032A= (n.*8032A=)
c.7972A= (p.Thr2658=)
c.8026A= (p.Thr2676=)
c.231-13029A=
c.8056A= (p.Thr2686=)
c.7951A= (p.Thr2651=)
c.7942A= (p.Thr2648=)
c.7903A= (p.Thr2635=)
c.7849A= (p.Thr2617=)
c.7753A= (p.Thr2585=)
c.7723A= (p.Thr2575=)
c.7648A= (p.Thr2550=)
c.7546A= (p.Thr2516=)
c.7177A= (p.Thr2393=)
5g.112843620A>CCA16038762APCc.8080A>C (p.Thr2694Pro)
c.*8032A>C (n.*8032A>C)
c.7972A>C (p.Thr2658Pro)
c.8026A>C (p.Thr2676Pro)
c.231-13029A>C
c.8056A>C (p.Thr2686Pro)
c.7951A>C (p.Thr2651Pro)
c.7942A>C (p.Thr2648Pro)
c.7903A>C (p.Thr2635Pro)
c.7849A>C (p.Thr2617Pro)
c.7753A>C (p.Thr2585Pro)
c.7723A>C (p.Thr2575Pro)
c.7648A>C (p.Thr2550Pro)
c.7546A>C (p.Thr2516Pro)
c.7177A>C (p.Thr2393Pro)
ClinVar dbSNP gnomAD v4
5g.112843620A>GCA16038763APCc.8080A>G (p.Thr2694Ala)
c.*8032A>G (n.*8032A>G)
c.7972A>G (p.Thr2658Ala)
c.8026A>G (p.Thr2676Ala)
c.231-13029A>G
c.8056A>G (p.Thr2686Ala)
c.7951A>G (p.Thr2651Ala)
c.7942A>G (p.Thr2648Ala)
c.7903A>G (p.Thr2635Ala)
c.7849A>G (p.Thr2617Ala)
c.7753A>G (p.Thr2585Ala)
c.7723A>G (p.Thr2575Ala)
c.7648A>G (p.Thr2550Ala)
c.7546A>G (p.Thr2516Ala)
c.7177A>G (p.Thr2393Ala)
ClinVar dbSNP
5g.112843620A>TCA16038764APCc.8080A>T (p.Thr2694Ser)
c.*8032A>T (n.*8032A>T)
c.7972A>T (p.Thr2658Ser)
c.8026A>T (p.Thr2676Ser)
c.231-13029A>T
c.8056A>T (p.Thr2686Ser)
c.7951A>T (p.Thr2651Ser)
c.7942A>T (p.Thr2648Ser)
c.7903A>T (p.Thr2635Ser)
c.7849A>T (p.Thr2617Ser)
c.7753A>T (p.Thr2585Ser)
c.7723A>T (p.Thr2575Ser)
c.7648A>T (p.Thr2550Ser)
c.7546A>T (p.Thr2516Ser)
c.7177A>T (p.Thr2393Ser)
dbSNP
5g.112843621delCA2825001387APCc.8081del (p.Thr2694LysfsTer7)
c.*8033del (n.*8033del)
c.7973del (p.Thr2658LysfsTer7)
c.8027del (p.Thr2676LysfsTer7)
c.231-13028del
c.8057del (p.Thr2686LysfsTer7)
c.7952del (p.Thr2651LysfsTer7)
c.7943del (p.Thr2648LysfsTer7)
c.7904del (p.Thr2635LysfsTer7)
c.7850del (p.Thr2617LysfsTer7)
c.7754del (p.Thr2585LysfsTer7)
c.7724del (p.Thr2575LysfsTer7)
c.7649del (p.Thr2550LysfsTer7)
c.7547del (p.Thr2516LysfsTer7)
c.7178del (p.Thr2393LysfsTer7)
ClinVar
5g.112843621C>ACA16038765APCc.8081C>A (p.Thr2694Lys)
c.*8033C>A (n.*8033C>A)
c.7973C>A (p.Thr2658Lys)
c.8027C>A (p.Thr2676Lys)
c.231-13028C>A
c.8057C>A (p.Thr2686Lys)
c.7952C>A (p.Thr2651Lys)
c.7943C>A (p.Thr2648Lys)
c.7904C>A (p.Thr2635Lys)
c.7850C>A (p.Thr2617Lys)
c.7754C>A (p.Thr2585Lys)
c.7724C>A (p.Thr2575Lys)
c.7649C>A (p.Thr2550Lys)
c.7547C>A (p.Thr2516Lys)
c.7178C>A (p.Thr2393Lys)
ClinVar
5g.112843621C=CA1573475556APCc.8081C= (p.Thr2694=)
c.*8033C= (n.*8033C=)
c.7973C= (p.Thr2658=)
c.8027C= (p.Thr2676=)
c.231-13028C=
c.8057C= (p.Thr2686=)
c.7952C= (p.Thr2651=)
c.7943C= (p.Thr2648=)
c.7904C= (p.Thr2635=)
c.7850C= (p.Thr2617=)
c.7754C= (p.Thr2585=)
c.7724C= (p.Thr2575=)
c.7649C= (p.Thr2550=)
c.7547C= (p.Thr2516=)
c.7178C= (p.Thr2393=)
5g.112843621C>GCA16038766APCc.8081C>G (p.Thr2694Arg)
c.*8033C>G (n.*8033C>G)
c.7973C>G (p.Thr2658Arg)
c.8027C>G (p.Thr2676Arg)
c.231-13028C>G
c.8057C>G (p.Thr2686Arg)
c.7952C>G (p.Thr2651Arg)
c.7943C>G (p.Thr2648Arg)
c.7904C>G (p.Thr2635Arg)
c.7850C>G (p.Thr2617Arg)
c.7754C>G (p.Thr2585Arg)
c.7724C>G (p.Thr2575Arg)
c.7649C>G (p.Thr2550Arg)
c.7547C>G (p.Thr2516Arg)
c.7178C>G (p.Thr2393Arg)
dbSNP
5g.112843621C>TCA16038767APCc.8081C>T (p.Thr2694Ile)
c.*8033C>T (n.*8033C>T)
c.7973C>T (p.Thr2658Ile)
c.8027C>T (p.Thr2676Ile)
c.231-13028C>T
c.8057C>T (p.Thr2686Ile)
c.7952C>T (p.Thr2651Ile)
c.7943C>T (p.Thr2648Ile)
c.7904C>T (p.Thr2635Ile)
c.7850C>T (p.Thr2617Ile)
c.7754C>T (p.Thr2585Ile)
c.7724C>T (p.Thr2575Ile)
c.7649C>T (p.Thr2550Ile)
c.7547C>T (p.Thr2516Ile)
c.7178C>T (p.Thr2393Ile)
ClinVar dbSNP
5g.112843622A>CCA446211025APCc.8082A>C (p.Thr2694=)
c.*8034A>C (n.*8034A>C)
c.7974A>C (p.Thr2658=)
c.8028A>C (p.Thr2676=)
c.231-13027A>C
c.8058A>C (p.Thr2686=)
c.7953A>C (p.Thr2651=)
c.7944A>C (p.Thr2648=)
c.7905A>C (p.Thr2635=)
c.7851A>C (p.Thr2617=)
c.7755A>C (p.Thr2585=)
c.7725A>C (p.Thr2575=)
c.7650A>C (p.Thr2550=)
c.7548A>C (p.Thr2516=)
c.7179A>C (p.Thr2393=)
5g.112843622A>GCA446211026APCc.8082A>G (p.Thr2694=)
c.*8034A>G (n.*8034A>G)
c.7974A>G (p.Thr2658=)
c.8028A>G (p.Thr2676=)
c.231-13027A>G
c.8058A>G (p.Thr2686=)
c.7953A>G (p.Thr2651=)
c.7944A>G (p.Thr2648=)
c.7905A>G (p.Thr2635=)
c.7851A>G (p.Thr2617=)
c.7755A>G (p.Thr2585=)
c.7725A>G (p.Thr2575=)
c.7650A>G (p.Thr2550=)
c.7548A>G (p.Thr2516=)
c.7179A>G (p.Thr2393=)
dbSNP
5g.112843622A>TCA446211027APCc.8082A>T (p.Thr2694=)
c.*8034A>T (n.*8034A>T)
c.7974A>T (p.Thr2658=)
c.8028A>T (p.Thr2676=)
c.231-13027A>T
c.8058A>T (p.Thr2686=)
c.7953A>T (p.Thr2651=)
c.7944A>T (p.Thr2648=)
c.7905A>T (p.Thr2635=)
c.7851A>T (p.Thr2617=)
c.7755A>T (p.Thr2585=)
c.7725A>T (p.Thr2575=)
c.7650A>T (p.Thr2550=)
c.7548A>T (p.Thr2516=)
c.7179A>T (p.Thr2393=)
dbSNP
5g.112843623G>ACA049681APCc.8083G>A (p.Gly2695Ser)
c.*8035G>A (n.*8035G>A)
c.7975G>A (p.Gly2659Ser)
c.8029G>A (p.Gly2677Ser)
c.231-13026G>A
c.8059G>A (p.Gly2687Ser)
c.7954G>A (p.Gly2652Ser)
c.7945G>A (p.Gly2649Ser)
c.7906G>A (p.Gly2636Ser)
c.7852G>A (p.Gly2618Ser)
c.7756G>A (p.Gly2586Ser)
c.7726G>A (p.Gly2576Ser)
c.7651G>A (p.Gly2551Ser)
c.7549G>A (p.Gly2517Ser)
c.7180G>A (p.Gly2394Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843623G>CCA16038768APCc.8083G>C (p.Gly2695Arg)
c.*8035G>C (n.*8035G>C)
c.7975G>C (p.Gly2659Arg)
c.8029G>C (p.Gly2677Arg)
c.231-13026G>C
c.8059G>C (p.Gly2687Arg)
c.7954G>C (p.Gly2652Arg)
c.7945G>C (p.Gly2649Arg)
c.7906G>C (p.Gly2636Arg)
c.7852G>C (p.Gly2618Arg)
c.7756G>C (p.Gly2586Arg)
c.7726G>C (p.Gly2576Arg)
c.7651G>C (p.Gly2551Arg)
c.7549G>C (p.Gly2517Arg)
c.7180G>C (p.Gly2394Arg)
ClinVar
5g.112843623G=CA1573475566APCc.8083G= (p.Gly2695=)
c.*8035G= (n.*8035G=)
c.7975G= (p.Gly2659=)
c.8029G= (p.Gly2677=)
c.231-13026G=
c.8059G= (p.Gly2687=)
c.7954G= (p.Gly2652=)
c.7945G= (p.Gly2649=)
c.7906G= (p.Gly2636=)
c.7852G= (p.Gly2618=)
c.7756G= (p.Gly2586=)
c.7726G= (p.Gly2576=)
c.7651G= (p.Gly2551=)
c.7549G= (p.Gly2517=)
c.7180G= (p.Gly2394=)
5g.112843623G>TCA16038769APCc.8083G>T (p.Gly2695Cys)
c.*8035G>T (n.*8035G>T)
c.7975G>T (p.Gly2659Cys)
c.8029G>T (p.Gly2677Cys)
c.231-13026G>T
c.8059G>T (p.Gly2687Cys)
c.7954G>T (p.Gly2652Cys)
c.7945G>T (p.Gly2649Cys)
c.7906G>T (p.Gly2636Cys)
c.7852G>T (p.Gly2618Cys)
c.7756G>T (p.Gly2586Cys)
c.7726G>T (p.Gly2576Cys)
c.7651G>T (p.Gly2551Cys)
c.7549G>T (p.Gly2517Cys)
c.7180G>T (p.Gly2394Cys)
ClinVar dbSNP
5g.112843624G>ACA049704APCc.8084G>A (p.Gly2695Asp)
c.*8036G>A (n.*8036G>A)
c.7976G>A (p.Gly2659Asp)
c.8030G>A (p.Gly2677Asp)
c.231-13025G>A
c.8060G>A (p.Gly2687Asp)
c.7955G>A (p.Gly2652Asp)
c.7946G>A (p.Gly2649Asp)
c.7907G>A (p.Gly2636Asp)
c.7853G>A (p.Gly2618Asp)
c.7757G>A (p.Gly2586Asp)
c.7727G>A (p.Gly2576Asp)
c.7652G>A (p.Gly2551Asp)
c.7550G>A (p.Gly2517Asp)
c.7181G>A (p.Gly2394Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843624G>CCA16038770APCc.8084G>C (p.Gly2695Ala)
c.*8036G>C (n.*8036G>C)
c.7976G>C (p.Gly2659Ala)
c.8030G>C (p.Gly2677Ala)
c.231-13025G>C
c.8060G>C (p.Gly2687Ala)
c.7955G>C (p.Gly2652Ala)
c.7946G>C (p.Gly2649Ala)
c.7907G>C (p.Gly2636Ala)
c.7853G>C (p.Gly2618Ala)
c.7757G>C (p.Gly2586Ala)
c.7727G>C (p.Gly2576Ala)
c.7652G>C (p.Gly2551Ala)
c.7550G>C (p.Gly2517Ala)
c.7181G>C (p.Gly2394Ala)
ClinVar gnomAD v4
5g.112843624G=CA1573475576APCc.8084G= (p.Gly2695=)
c.*8036G= (n.*8036G=)
c.7976G= (p.Gly2659=)
c.8030G= (p.Gly2677=)
c.231-13025G=
c.8060G= (p.Gly2687=)
c.7955G= (p.Gly2652=)
c.7946G= (p.Gly2649=)
c.7907G= (p.Gly2636=)
c.7853G= (p.Gly2618=)
c.7757G= (p.Gly2586=)
c.7727G= (p.Gly2576=)
c.7652G= (p.Gly2551=)
c.7550G= (p.Gly2517=)
c.7181G= (p.Gly2394=)
5g.112843624G>TCA16038771APCc.8084G>T (p.Gly2695Val)
c.*8036G>T (n.*8036G>T)
c.7976G>T (p.Gly2659Val)
c.8030G>T (p.Gly2677Val)
c.231-13025G>T
c.8060G>T (p.Gly2687Val)
c.7955G>T (p.Gly2652Val)
c.7946G>T (p.Gly2649Val)
c.7907G>T (p.Gly2636Val)
c.7853G>T (p.Gly2618Val)
c.7757G>T (p.Gly2586Val)
c.7727G>T (p.Gly2576Val)
c.7652G>T (p.Gly2551Val)
c.7550G>T (p.Gly2517Val)
c.7181G>T (p.Gly2394Val)
5g.112843625T>ACA446211028APCc.8085T>A (p.Gly2695=)
c.*8037T>A (n.*8037T>A)
c.7977T>A (p.Gly2659=)
c.8031T>A (p.Gly2677=)
c.231-13024T>A
c.8061T>A (p.Gly2687=)
c.7956T>A (p.Gly2652=)
c.7947T>A (p.Gly2649=)
c.7908T>A (p.Gly2636=)
c.7854T>A (p.Gly2618=)
c.7758T>A (p.Gly2586=)
c.7728T>A (p.Gly2576=)
c.7653T>A (p.Gly2551=)
c.7551T>A (p.Gly2517=)
c.7182T>A (p.Gly2394=)
ClinVar
5g.112843625T>CCA446211029APCc.8085T>C (p.Gly2695=)
c.*8037T>C (n.*8037T>C)
c.7977T>C (p.Gly2659=)
c.8031T>C (p.Gly2677=)
c.231-13024T>C
c.8061T>C (p.Gly2687=)
c.7956T>C (p.Gly2652=)
c.7947T>C (p.Gly2649=)
c.7908T>C (p.Gly2636=)
c.7854T>C (p.Gly2618=)
c.7758T>C (p.Gly2586=)
c.7728T>C (p.Gly2576=)
c.7653T>C (p.Gly2551=)
c.7551T>C (p.Gly2517=)
c.7182T>C (p.Gly2394=)
ClinVar
5g.112843625T>GCA446211030APCc.8085T>G (p.Gly2695=)
c.*8037T>G (n.*8037T>G)
c.7977T>G (p.Gly2659=)
c.8031T>G (p.Gly2677=)
c.231-13024T>G
c.8061T>G (p.Gly2687=)
c.7956T>G (p.Gly2652=)
c.7947T>G (p.Gly2649=)
c.7908T>G (p.Gly2636=)
c.7854T>G (p.Gly2618=)
c.7758T>G (p.Gly2586=)
c.7728T>G (p.Gly2576=)
c.7653T>G (p.Gly2551=)
c.7551T>G (p.Gly2517=)
c.7182T>G (p.Gly2394=)
5g.112843626A=CA1573475589APCc.8086A= (p.Asn2696=)
c.*8038A= (n.*8038A=)
c.7978A= (p.Asn2660=)
c.8032A= (p.Asn2678=)
c.231-13023A=
c.8062A= (p.Asn2688=)
c.7957A= (p.Asn2653=)
c.7948A= (p.Asn2650=)
c.7909A= (p.Asn2637=)
c.7855A= (p.Asn2619=)
c.7759A= (p.Asn2587=)
c.7729A= (p.Asn2577=)
c.7654A= (p.Asn2552=)
c.7552A= (p.Asn2518=)
c.7183A= (p.Asn2395=)
5g.112843626A>CCA16038772APCc.8086A>C (p.Asn2696His)
c.*8038A>C (n.*8038A>C)
c.7978A>C (p.Asn2660His)
c.8032A>C (p.Asn2678His)
c.231-13023A>C
c.8062A>C (p.Asn2688His)
c.7957A>C (p.Asn2653His)
c.7948A>C (p.Asn2650His)
c.7909A>C (p.Asn2637His)
c.7855A>C (p.Asn2619His)
c.7759A>C (p.Asn2587His)
c.7729A>C (p.Asn2577His)
c.7654A>C (p.Asn2552His)
c.7552A>C (p.Asn2518His)
c.7183A>C (p.Asn2395His)
dbSNP
5g.112843626A>GCA16038773APCc.8086A>G (p.Asn2696Asp)
c.*8038A>G (n.*8038A>G)
c.7978A>G (p.Asn2660Asp)
c.8032A>G (p.Asn2678Asp)
c.231-13023A>G
c.8062A>G (p.Asn2688Asp)
c.7957A>G (p.Asn2653Asp)
c.7948A>G (p.Asn2650Asp)
c.7909A>G (p.Asn2637Asp)
c.7855A>G (p.Asn2619Asp)
c.7759A>G (p.Asn2587Asp)
c.7729A>G (p.Asn2577Asp)
c.7654A>G (p.Asn2552Asp)
c.7552A>G (p.Asn2518Asp)
c.7183A>G (p.Asn2395Asp)
ClinVar dbSNP
5g.112843626A>TCA16038774APCc.8086A>T (p.Asn2696Tyr)
c.*8038A>T (n.*8038A>T)
c.7978A>T (p.Asn2660Tyr)
c.8032A>T (p.Asn2678Tyr)
c.231-13023A>T
c.8062A>T (p.Asn2688Tyr)
c.7957A>T (p.Asn2653Tyr)
c.7948A>T (p.Asn2650Tyr)
c.7909A>T (p.Asn2637Tyr)
c.7855A>T (p.Asn2619Tyr)
c.7759A>T (p.Asn2587Tyr)
c.7729A>T (p.Asn2577Tyr)
c.7654A>T (p.Asn2552Tyr)
c.7552A>T (p.Asn2518Tyr)
c.7183A>T (p.Asn2395Tyr)
ClinVar dbSNP
5g.112843627A=CA1573475595APCc.8087A= (p.Asn2696=)
c.*8039A= (n.*8039A=)
c.7979A= (p.Asn2660=)
c.8033A= (p.Asn2678=)
c.231-13022A=
c.8063A= (p.Asn2688=)
c.7958A= (p.Asn2653=)
c.7949A= (p.Asn2650=)
c.7910A= (p.Asn2637=)
c.7856A= (p.Asn2619=)
c.7760A= (p.Asn2587=)
c.7730A= (p.Asn2577=)
c.7655A= (p.Asn2552=)
c.7553A= (p.Asn2518=)
c.7184A= (p.Asn2395=)
5g.112843627A>CCA16038775APCc.8087A>C (p.Asn2696Thr)
c.*8039A>C (n.*8039A>C)
c.7979A>C (p.Asn2660Thr)
c.8033A>C (p.Asn2678Thr)
c.231-13022A>C
c.8063A>C (p.Asn2688Thr)
c.7958A>C (p.Asn2653Thr)
c.7949A>C (p.Asn2650Thr)
c.7910A>C (p.Asn2637Thr)
c.7856A>C (p.Asn2619Thr)
c.7760A>C (p.Asn2587Thr)
c.7730A>C (p.Asn2577Thr)
c.7655A>C (p.Asn2552Thr)
c.7553A>C (p.Asn2518Thr)
c.7184A>C (p.Asn2395Thr)
5g.112843627A>GCA10622270APCc.8087A>G (p.Asn2696Ser)
c.*8039A>G (n.*8039A>G)
c.7979A>G (p.Asn2660Ser)
c.8033A>G (p.Asn2678Ser)
c.231-13022A>G
c.8063A>G (p.Asn2688Ser)
c.7958A>G (p.Asn2653Ser)
c.7949A>G (p.Asn2650Ser)
c.7910A>G (p.Asn2637Ser)
c.7856A>G (p.Asn2619Ser)
c.7760A>G (p.Asn2587Ser)
c.7730A>G (p.Asn2577Ser)
c.7655A>G (p.Asn2552Ser)
c.7553A>G (p.Asn2518Ser)
c.7184A>G (p.Asn2395Ser)
ClinVar dbSNP gnomAD v4
5g.112843627A>TCA16038776APCc.8087A>T (p.Asn2696Ile)
c.*8039A>T (n.*8039A>T)
c.7979A>T (p.Asn2660Ile)
c.8033A>T (p.Asn2678Ile)
c.231-13022A>T
c.8063A>T (p.Asn2688Ile)
c.7958A>T (p.Asn2653Ile)
c.7949A>T (p.Asn2650Ile)
c.7910A>T (p.Asn2637Ile)
c.7856A>T (p.Asn2619Ile)
c.7760A>T (p.Asn2587Ile)
c.7730A>T (p.Asn2577Ile)
c.7655A>T (p.Asn2552Ile)
c.7553A>T (p.Asn2518Ile)
c.7184A>T (p.Asn2395Ile)
dbSNP
5g.112843628T>ACA16038777APCc.8088T>A (p.Asn2696Lys)
c.*8040T>A (n.*8040T>A)
c.7980T>A (p.Asn2660Lys)
c.8034T>A (p.Asn2678Lys)
c.231-13021T>A
c.8064T>A (p.Asn2688Lys)
c.7959T>A (p.Asn2653Lys)
c.7950T>A (p.Asn2650Lys)
c.7911T>A (p.Asn2637Lys)
c.7857T>A (p.Asn2619Lys)
c.7761T>A (p.Asn2587Lys)
c.7731T>A (p.Asn2577Lys)
c.7656T>A (p.Asn2552Lys)
c.7554T>A (p.Asn2518Lys)
c.7185T>A (p.Asn2395Lys)
dbSNP
5g.112843628T>CCA049722APCc.8088T>C (p.Asn2696=)
c.*8040T>C (n.*8040T>C)
c.7980T>C (p.Asn2660=)
c.8034T>C (p.Asn2678=)
c.231-13021T>C
c.8064T>C (p.Asn2688=)
c.7959T>C (p.Asn2653=)
c.7950T>C (p.Asn2650=)
c.7911T>C (p.Asn2637=)
c.7857T>C (p.Asn2619=)
c.7761T>C (p.Asn2587=)
c.7731T>C (p.Asn2577=)
c.7656T>C (p.Asn2552=)
c.7554T>C (p.Asn2518=)
c.7185T>C (p.Asn2395=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112843628T>GCA16038778APCc.8088T>G (p.Asn2696Lys)
c.*8040T>G (n.*8040T>G)
c.7980T>G (p.Asn2660Lys)
c.8034T>G (p.Asn2678Lys)
c.231-13021T>G
c.8064T>G (p.Asn2688Lys)
c.7959T>G (p.Asn2653Lys)
c.7950T>G (p.Asn2650Lys)
c.7911T>G (p.Asn2637Lys)
c.7857T>G (p.Asn2619Lys)
c.7761T>G (p.Asn2587Lys)
c.7731T>G (p.Asn2577Lys)
c.7656T>G (p.Asn2552Lys)
c.7554T>G (p.Asn2518Lys)
c.7185T>G (p.Asn2395Lys)
5g.112843628T=CA1573475601APCc.8088T= (p.Asn2696=)
c.*8040T= (n.*8040T=)
c.7980T= (p.Asn2660=)
c.8034T= (p.Asn2678=)
c.231-13021T=
c.8064T= (p.Asn2688=)
c.7959T= (p.Asn2653=)
c.7950T= (p.Asn2650=)
c.7911T= (p.Asn2637=)
c.7857T= (p.Asn2619=)
c.7761T= (p.Asn2587=)
c.7731T= (p.Asn2577=)
c.7656T= (p.Asn2552=)
c.7554T= (p.Asn2518=)
c.7185T= (p.Asn2395=)
5g.112843629A=CA1573475609APCc.8089A= (p.Thr2697=)
c.*8041A= (n.*8041A=)
c.7981A= (p.Thr2661=)
c.8035A= (p.Thr2679=)
c.231-13020A=
c.8065A= (p.Thr2689=)
c.7960A= (p.Thr2654=)
c.7951A= (p.Thr2651=)
c.7912A= (p.Thr2638=)
c.7858A= (p.Thr2620=)
c.7762A= (p.Thr2588=)
c.7732A= (p.Thr2578=)
c.7657A= (p.Thr2553=)
c.7555A= (p.Thr2519=)
c.7186A= (p.Thr2396=)
5g.112843629A>CCA16038779APCc.8089A>C (p.Thr2697Pro)
c.*8041A>C (n.*8041A>C)
c.7981A>C (p.Thr2661Pro)
c.8035A>C (p.Thr2679Pro)
c.231-13020A>C
c.8065A>C (p.Thr2689Pro)
c.7960A>C (p.Thr2654Pro)
c.7951A>C (p.Thr2651Pro)
c.7912A>C (p.Thr2638Pro)
c.7858A>C (p.Thr2620Pro)
c.7762A>C (p.Thr2588Pro)
c.7732A>C (p.Thr2578Pro)
c.7657A>C (p.Thr2553Pro)
c.7555A>C (p.Thr2519Pro)
c.7186A>C (p.Thr2396Pro)
dbSNP
5g.112843629A>GCA16038780APCc.8089A>G (p.Thr2697Ala)
c.*8041A>G (n.*8041A>G)
c.7981A>G (p.Thr2661Ala)
c.8035A>G (p.Thr2679Ala)
c.231-13020A>G
c.8065A>G (p.Thr2689Ala)
c.7960A>G (p.Thr2654Ala)
c.7951A>G (p.Thr2651Ala)
c.7912A>G (p.Thr2638Ala)
c.7858A>G (p.Thr2620Ala)
c.7762A>G (p.Thr2588Ala)
c.7732A>G (p.Thr2578Ala)
c.7657A>G (p.Thr2553Ala)
c.7555A>G (p.Thr2519Ala)
c.7186A>G (p.Thr2396Ala)
dbSNP
5g.112843629A>TCA16038781APCc.8089A>T (p.Thr2697Ser)
c.*8041A>T (n.*8041A>T)
c.7981A>T (p.Thr2661Ser)
c.8035A>T (p.Thr2679Ser)
c.231-13020A>T
c.8065A>T (p.Thr2689Ser)
c.7960A>T (p.Thr2654Ser)
c.7951A>T (p.Thr2651Ser)
c.7912A>T (p.Thr2638Ser)
c.7858A>T (p.Thr2620Ser)
c.7762A>T (p.Thr2588Ser)
c.7732A>T (p.Thr2578Ser)
c.7657A>T (p.Thr2553Ser)
c.7555A>T (p.Thr2519Ser)
c.7186A>T (p.Thr2396Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843629_112843630delinsGACA2580072456APCc.8089_8090delinsGA (p.Thr2697Asp)
c.*8041_*8042delinsGA (n.*8041_*8042delinsGA)
c.7981_7982delinsGA (p.Thr2661Asp)
c.8035_8036delinsGA (p.Thr2679Asp)
c.231-13020_231-13019delinsGA
c.8065_8066delinsGA (p.Thr2689Asp)
c.7960_7961delinsGA (p.Thr2654Asp)
c.7951_7952delinsGA (p.Thr2651Asp)
c.7912_7913delinsGA (p.Thr2638Asp)
c.7858_7859delinsGA (p.Thr2620Asp)
c.7762_7763delinsGA (p.Thr2588Asp)
c.7732_7733delinsGA (p.Thr2578Asp)
c.7657_7658delinsGA (p.Thr2553Asp)
c.7555_7556delinsGA (p.Thr2519Asp)
c.7186_7187delinsGA (p.Thr2396Asp)
ClinVar
5g.112843630C>ACA16038782APCc.8090C>A (p.Thr2697Asn)
c.*8042C>A (n.*8042C>A)
c.7982C>A (p.Thr2661Asn)
c.8036C>A (p.Thr2679Asn)
c.231-13019C>A
c.8066C>A (p.Thr2689Asn)
c.7961C>A (p.Thr2654Asn)
c.7952C>A (p.Thr2651Asn)
c.7913C>A (p.Thr2638Asn)
c.7859C>A (p.Thr2620Asn)
c.7763C>A (p.Thr2588Asn)
c.7733C>A (p.Thr2578Asn)
c.7658C>A (p.Thr2553Asn)
c.7556C>A (p.Thr2519Asn)
c.7187C>A (p.Thr2396Asn)
ClinVar dbSNP
5g.112843630C=CA1573475616APCc.8090C= (p.Thr2697=)
c.*8042C= (n.*8042C=)
c.7982C= (p.Thr2661=)
c.8036C= (p.Thr2679=)
c.231-13019C=
c.8066C= (p.Thr2689=)
c.7961C= (p.Thr2654=)
c.7952C= (p.Thr2651=)
c.7913C= (p.Thr2638=)
c.7859C= (p.Thr2620=)
c.7763C= (p.Thr2588=)
c.7733C= (p.Thr2578=)
c.7658C= (p.Thr2553=)
c.7556C= (p.Thr2519=)
c.7187C= (p.Thr2396=)
5g.112843630C>GCA049736APCc.8090C>G (p.Thr2697Ser)
c.*8042C>G (n.*8042C>G)
c.7982C>G (p.Thr2661Ser)
c.8036C>G (p.Thr2679Ser)
c.231-13019C>G
c.8066C>G (p.Thr2689Ser)
c.7961C>G (p.Thr2654Ser)
c.7952C>G (p.Thr2651Ser)
c.7913C>G (p.Thr2638Ser)
c.7859C>G (p.Thr2620Ser)
c.7763C>G (p.Thr2588Ser)
c.7733C>G (p.Thr2578Ser)
c.7658C>G (p.Thr2553Ser)
c.7556C>G (p.Thr2519Ser)
c.7187C>G (p.Thr2396Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843630C>TCA16038783APCc.8090C>T (p.Thr2697Ile)
c.*8042C>T (n.*8042C>T)
c.7982C>T (p.Thr2661Ile)
c.8036C>T (p.Thr2679Ile)
c.231-13019C>T
c.8066C>T (p.Thr2689Ile)
c.7961C>T (p.Thr2654Ile)
c.7952C>T (p.Thr2651Ile)
c.7913C>T (p.Thr2638Ile)
c.7859C>T (p.Thr2620Ile)
c.7763C>T (p.Thr2588Ile)
c.7733C>T (p.Thr2578Ile)
c.7658C>T (p.Thr2553Ile)
c.7556C>T (p.Thr2519Ile)
c.7187C>T (p.Thr2396Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112843631T>ACA446211031APCc.8091T>A (p.Thr2697=)
c.*8043T>A (n.*8043T>A)
c.7983T>A (p.Thr2661=)
c.8037T>A (p.Thr2679=)
c.231-13018T>A
c.8067T>A (p.Thr2689=)
c.7962T>A (p.Thr2654=)
c.7953T>A (p.Thr2651=)
c.7914T>A (p.Thr2638=)
c.7860T>A (p.Thr2620=)
c.7764T>A (p.Thr2588=)
c.7734T>A (p.Thr2578=)
c.7659T>A (p.Thr2553=)
c.7557T>A (p.Thr2519=)
c.7188T>A (p.Thr2396=)
dbSNP
5g.112843631T>CCA446211032APCc.8091T>C (p.Thr2697=)
c.*8043T>C (n.*8043T>C)
c.7983T>C (p.Thr2661=)
c.8037T>C (p.Thr2679=)
c.231-13018T>C
c.8067T>C (p.Thr2689=)
c.7962T>C (p.Thr2654=)
c.7953T>C (p.Thr2651=)
c.7914T>C (p.Thr2638=)
c.7860T>C (p.Thr2620=)
c.7764T>C (p.Thr2588=)
c.7734T>C (p.Thr2578=)
c.7659T>C (p.Thr2553=)
c.7557T>C (p.Thr2519=)
c.7188T>C (p.Thr2396=)
dbSNP
5g.112843631T>GCA446211033APCc.8091T>G (p.Thr2697=)
c.*8043T>G (n.*8043T>G)
c.7983T>G (p.Thr2661=)
c.8037T>G (p.Thr2679=)
c.231-13018T>G
c.8067T>G (p.Thr2689=)
c.7962T>G (p.Thr2654=)
c.7953T>G (p.Thr2651=)
c.7914T>G (p.Thr2638=)
c.7860T>G (p.Thr2620=)
c.7764T>G (p.Thr2588=)
c.7734T>G (p.Thr2578=)
c.7659T>G (p.Thr2553=)
c.7557T>G (p.Thr2519=)
c.7188T>G (p.Thr2396=)
5g.112843632C>ACA16038784APCc.8092C>A (p.Pro2698Thr)
c.*8044C>A (n.*8044C>A)
c.7984C>A (p.Pro2662Thr)
c.8038C>A (p.Pro2680Thr)
c.231-13017C>A
c.8068C>A (p.Pro2690Thr)
c.7963C>A (p.Pro2655Thr)
c.7954C>A (p.Pro2652Thr)
c.7915C>A (p.Pro2639Thr)
c.7861C>A (p.Pro2621Thr)
c.7765C>A (p.Pro2589Thr)
c.7735C>A (p.Pro2579Thr)
c.7660C>A (p.Pro2554Thr)
c.7558C>A (p.Pro2520Thr)
c.7189C>A (p.Pro2397Thr)
ClinVar dbSNP
5g.112843632C=CA1573475627APCc.8092C= (p.Pro2698=)
c.*8044C= (n.*8044C=)
c.7984C= (p.Pro2662=)
c.8038C= (p.Pro2680=)
c.231-13017C=
c.8068C= (p.Pro2690=)
c.7963C= (p.Pro2655=)
c.7954C= (p.Pro2652=)
c.7915C= (p.Pro2639=)
c.7861C= (p.Pro2621=)
c.7765C= (p.Pro2589=)
c.7735C= (p.Pro2579=)
c.7660C= (p.Pro2554=)
c.7558C= (p.Pro2520=)
c.7189C= (p.Pro2397=)
5g.112843632C>GCA014255APCc.8092C>G (p.Pro2698Ala)
c.*8044C>G (n.*8044C>G)
c.7984C>G (p.Pro2662Ala)
c.8038C>G (p.Pro2680Ala)
c.231-13017C>G
c.8068C>G (p.Pro2690Ala)
c.7963C>G (p.Pro2655Ala)
c.7954C>G (p.Pro2652Ala)
c.7915C>G (p.Pro2639Ala)
c.7861C>G (p.Pro2621Ala)
c.7765C>G (p.Pro2589Ala)
c.7735C>G (p.Pro2579Ala)
c.7660C>G (p.Pro2554Ala)
c.7558C>G (p.Pro2520Ala)
c.7189C>G (p.Pro2397Ala)
ClinVar dbSNP gnomAD v4
5g.112843632C>TCA16038785APCc.8092C>T (p.Pro2698Ser)
c.*8044C>T (n.*8044C>T)
c.7984C>T (p.Pro2662Ser)
c.8038C>T (p.Pro2680Ser)
c.231-13017C>T
c.8068C>T (p.Pro2690Ser)
c.7963C>T (p.Pro2655Ser)
c.7954C>T (p.Pro2652Ser)
c.7915C>T (p.Pro2639Ser)
c.7861C>T (p.Pro2621Ser)
c.7765C>T (p.Pro2589Ser)
c.7735C>T (p.Pro2579Ser)
c.7660C>T (p.Pro2554Ser)
c.7558C>T (p.Pro2520Ser)
c.7189C>T (p.Pro2397Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112843633C>ACA16038786APCc.8093C>A (p.Pro2698His)
c.*8045C>A (n.*8045C>A)
c.7985C>A (p.Pro2662His)
c.8039C>A (p.Pro2680His)
c.231-13016C>A
c.8069C>A (p.Pro2690His)
c.7964C>A (p.Pro2655His)
c.7955C>A (p.Pro2652His)
c.7916C>A (p.Pro2639His)
c.7862C>A (p.Pro2621His)
c.7766C>A (p.Pro2589His)
c.7736C>A (p.Pro2579His)
c.7661C>A (p.Pro2554His)
c.7559C>A (p.Pro2520His)
c.7190C>A (p.Pro2397His)
ClinVar dbSNP
5g.112843633C>GCA16038787APCc.8093C>G (p.Pro2698Arg)
c.*8045C>G (n.*8045C>G)
c.7985C>G (p.Pro2662Arg)
c.8039C>G (p.Pro2680Arg)
c.231-13016C>G
c.8069C>G (p.Pro2690Arg)
c.7964C>G (p.Pro2655Arg)
c.7955C>G (p.Pro2652Arg)
c.7916C>G (p.Pro2639Arg)
c.7862C>G (p.Pro2621Arg)
c.7766C>G (p.Pro2589Arg)
c.7736C>G (p.Pro2579Arg)
c.7661C>G (p.Pro2554Arg)
c.7559C>G (p.Pro2520Arg)
c.7190C>G (p.Pro2397Arg)
dbSNP
5g.112843633C>TCA16038788APCc.8093C>T (p.Pro2698Leu)
c.*8045C>T (n.*8045C>T)
c.7985C>T (p.Pro2662Leu)
c.8039C>T (p.Pro2680Leu)
c.231-13016C>T
c.8069C>T (p.Pro2690Leu)
c.7964C>T (p.Pro2655Leu)
c.7955C>T (p.Pro2652Leu)
c.7916C>T (p.Pro2639Leu)
c.7862C>T (p.Pro2621Leu)
c.7766C>T (p.Pro2589Leu)
c.7736C>T (p.Pro2579Leu)
c.7661C>T (p.Pro2554Leu)
c.7559C>T (p.Pro2520Leu)
c.7190C>T (p.Pro2397Leu)
ClinVar dbSNP
5g.112843634C>ACA446211034APCc.8094C>A (p.Pro2698=)
c.*8046C>A (n.*8046C>A)
c.7986C>A (p.Pro2662=)
c.8040C>A (p.Pro2680=)
c.231-13015C>A
c.8070C>A (p.Pro2690=)
c.7965C>A (p.Pro2655=)
c.7956C>A (p.Pro2652=)
c.7917C>A (p.Pro2639=)
c.7863C>A (p.Pro2621=)
c.7767C>A (p.Pro2589=)
c.7737C>A (p.Pro2579=)
c.7662C>A (p.Pro2554=)
c.7560C>A (p.Pro2520=)
c.7191C>A (p.Pro2397=)
dbSNP
5g.112843634C=CA1573475633APCc.8094C= (p.Pro2698=)
c.*8046C= (n.*8046C=)
c.7986C= (p.Pro2662=)
c.8040C= (p.Pro2680=)
c.231-13015C=
c.8070C= (p.Pro2690=)
c.7965C= (p.Pro2655=)
c.7956C= (p.Pro2652=)
c.7917C= (p.Pro2639=)
c.7863C= (p.Pro2621=)
c.7767C= (p.Pro2589=)
c.7737C= (p.Pro2579=)
c.7662C= (p.Pro2554=)
c.7560C= (p.Pro2520=)
c.7191C= (p.Pro2397=)
5g.112843634C>GCA446211035APCc.8094C>G (p.Pro2698=)
c.*8046C>G (n.*8046C>G)
c.7986C>G (p.Pro2662=)
c.8040C>G (p.Pro2680=)
c.231-13015C>G
c.8070C>G (p.Pro2690=)
c.7965C>G (p.Pro2655=)
c.7956C>G (p.Pro2652=)
c.7917C>G (p.Pro2639=)
c.7863C>G (p.Pro2621=)
c.7767C>G (p.Pro2589=)
c.7737C>G (p.Pro2579=)
c.7662C>G (p.Pro2554=)
c.7560C>G (p.Pro2520=)
c.7191C>G (p.Pro2397=)
ClinVar dbSNP
5g.112843634C>TCA446211036APCc.8094C>T (p.Pro2698=)
c.*8046C>T (n.*8046C>T)
c.7986C>T (p.Pro2662=)
c.8040C>T (p.Pro2680=)
c.231-13015C>T
c.8070C>T (p.Pro2690=)
c.7965C>T (p.Pro2655=)
c.7956C>T (p.Pro2652=)
c.7917C>T (p.Pro2639=)
c.7863C>T (p.Pro2621=)
c.7767C>T (p.Pro2589=)
c.7737C>T (p.Pro2579=)
c.7662C>T (p.Pro2554=)
c.7560C>T (p.Pro2520=)
c.7191C>T (p.Pro2397=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched