Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112838548_112838617delCA658760856APCc.2619_2688del (n.2619_2688del)
c.3008_3077del (p.Ser1003TyrfsTer14)
c.*2960_*3029del (n.*2960_*3029del)
c.2900_2969del (p.Ser967TyrfsTer14)
c.2954_3023del (p.Ser985TyrfsTer14)
c.1307_1376del
c.*2276_*2345del (n.*2276_*2345del)
c.230+9576_230+9645del
c.2984_3053del (p.Ser995TyrfsTer14)
c.2879_2948del (p.Ser960TyrfsTer14)
c.2870_2939del (p.Ser957TyrfsTer14)
c.2831_2900del (p.Ser944TyrfsTer14)
c.2777_2846del (p.Ser926TyrfsTer14)
c.2681_2750del (p.Ser894TyrfsTer14)
c.2651_2720del (p.Ser884TyrfsTer14)
c.2576_2645del (p.Ser859TyrfsTer14)
c.2474_2543del (p.Ser825TyrfsTer14)
c.2105_2174del (p.Ser702TyrfsTer14)
5g.112838616delCA445963134APCc.2687del (n.2687del)
c.3076del (p.Ile1026TyrfsTer14)
c.*3028del (n.*3028del)
c.2968del (p.Ile990TyrfsTer14)
c.3022del (p.Ile1008TyrfsTer14)
c.1375del
c.*2344del (n.*2344del)
c.230+9644del
c.3052del (p.Ile1018TyrfsTer14)
c.2947del (p.Ile983TyrfsTer14)
c.2938del (p.Ile980TyrfsTer14)
c.2899del (p.Ile967TyrfsTer14)
c.2845del (p.Ile949TyrfsTer14)
c.2749del (p.Ile917TyrfsTer14)
c.2719del (p.Ile907TyrfsTer14)
c.2644del (p.Ile882TyrfsTer14)
c.2542del (p.Ile848TyrfsTer14)
c.2173del (p.Ile725TyrfsTer14)
 dbSNP COSMIC COSMIC
5g.112838615A=CA1573485460APCc.2686A= (n.2686A=)
c.3075A= (p.Lys1025=)
c.*3027A= (n.*3027A=)
c.2967A= (p.Lys989=)
c.3021A= (p.Lys1007=)
c.1374A=
c.*2343A= (n.*2343A=)
c.230+9643A=
c.3051A= (p.Lys1017=)
c.2946A= (p.Lys982=)
c.2937A= (p.Lys979=)
c.2898A= (p.Lys966=)
c.2844A= (p.Lys948=)
c.2748A= (p.Lys916=)
c.2718A= (p.Lys906=)
c.2643A= (p.Lys881=)
c.2541A= (p.Lys847=)
c.2172A= (p.Lys724=)
5g.112838615A>CCA16027939APCc.2686A>C (n.2686A>C)
c.3075A>C (p.Lys1025Asn)
c.*3027A>C (n.*3027A>C)
c.2967A>C (p.Lys989Asn)
c.3021A>C (p.Lys1007Asn)
c.1374A>C
c.*2343A>C (n.*2343A>C)
c.230+9643A>C
c.3051A>C (p.Lys1017Asn)
c.2946A>C (p.Lys982Asn)
c.2937A>C (p.Lys979Asn)
c.2898A>C (p.Lys966Asn)
c.2844A>C (p.Lys948Asn)
c.2748A>C (p.Lys916Asn)
c.2718A>C (p.Lys906Asn)
c.2643A>C (p.Lys881Asn)
c.2541A>C (p.Lys847Asn)
c.2172A>C (p.Lys724Asn)
 dbSNP gnomAD v2
5g.112838615A>GCA10578348APCc.2686A>G (n.2686A>G)
c.3075A>G (p.Lys1025=)
c.*3027A>G (n.*3027A>G)
c.2967A>G (p.Lys989=)
c.3021A>G (p.Lys1007=)
c.1374A>G
c.*2343A>G (n.*2343A>G)
c.230+9643A>G
c.3051A>G (p.Lys1017=)
c.2946A>G (p.Lys982=)
c.2937A>G (p.Lys979=)
c.2898A>G (p.Lys966=)
c.2844A>G (p.Lys948=)
c.2748A>G (p.Lys916=)
c.2718A>G (p.Lys906=)
c.2643A>G (p.Lys881=)
c.2541A>G (p.Lys847=)
c.2172A>G (p.Lys724=)
 ClinVar dbSNP
5g.112838615A>TCA16027940APCc.2686A>T (n.2686A>T)
c.3075A>T (p.Lys1025Asn)
c.*3027A>T (n.*3027A>T)
c.2967A>T (p.Lys989Asn)
c.3021A>T (p.Lys1007Asn)
c.1374A>T
c.*2343A>T (n.*2343A>T)
c.230+9643A>T
c.3051A>T (p.Lys1017Asn)
c.2946A>T (p.Lys982Asn)
c.2937A>T (p.Lys979Asn)
c.2898A>T (p.Lys966Asn)
c.2844A>T (p.Lys948Asn)
c.2748A>T (p.Lys916Asn)
c.2718A>T (p.Lys906Asn)
c.2643A>T (p.Lys881Asn)
c.2541A>T (p.Lys847Asn)
c.2172A>T (p.Lys724Asn)
 dbSNP
5g.112838616A=CA1573485467APCc.2687A= (n.2687A=)
c.3076A= (p.Ile1026=)
c.*3028A= (n.*3028A=)
c.2968A= (p.Ile990=)
c.3022A= (p.Ile1008=)
c.1375A=
c.*2344A= (n.*2344A=)
c.230+9644A=
c.3052A= (p.Ile1018=)
c.2947A= (p.Ile983=)
c.2938A= (p.Ile980=)
c.2899A= (p.Ile967=)
c.2845A= (p.Ile949=)
c.2749A= (p.Ile917=)
c.2719A= (p.Ile907=)
c.2644A= (p.Ile882=)
c.2542A= (p.Ile848=)
c.2173A= (p.Ile725=)
5g.112838616A>CCA16027941APCc.2687A>C (n.2687A>C)
c.3076A>C (p.Ile1026Leu)
c.*3028A>C (n.*3028A>C)
c.2968A>C (p.Ile990Leu)
c.3022A>C (p.Ile1008Leu)
c.1375A>C
c.*2344A>C (n.*2344A>C)
c.230+9644A>C
c.3052A>C (p.Ile1018Leu)
c.2947A>C (p.Ile983Leu)
c.2938A>C (p.Ile980Leu)
c.2899A>C (p.Ile967Leu)
c.2845A>C (p.Ile949Leu)
c.2749A>C (p.Ile917Leu)
c.2719A>C (p.Ile907Leu)
c.2644A>C (p.Ile882Leu)
c.2542A>C (p.Ile848Leu)
c.2173A>C (p.Ile725Leu)
5g.112838616A>GCA16027942APCc.2687A>G (n.2687A>G)
c.3076A>G (p.Ile1026Val)
c.*3028A>G (n.*3028A>G)
c.2968A>G (p.Ile990Val)
c.3022A>G (p.Ile1008Val)
c.1375A>G
c.*2344A>G (n.*2344A>G)
c.230+9644A>G
c.3052A>G (p.Ile1018Val)
c.2947A>G (p.Ile983Val)
c.2938A>G (p.Ile980Val)
c.2899A>G (p.Ile967Val)
c.2845A>G (p.Ile949Val)
c.2749A>G (p.Ile917Val)
c.2719A>G (p.Ile907Val)
c.2644A>G (p.Ile882Val)
c.2542A>G (p.Ile848Val)
c.2173A>G (p.Ile725Val)
 ClinVar dbSNP gnomAD v4
5g.112838616A>TCA16027943APCc.2687A>T (n.2687A>T)
c.3076A>T (p.Ile1026Leu)
c.*3028A>T (n.*3028A>T)
c.2968A>T (p.Ile990Leu)
c.3022A>T (p.Ile1008Leu)
c.1375A>T
c.*2344A>T (n.*2344A>T)
c.230+9644A>T
c.3052A>T (p.Ile1018Leu)
c.2947A>T (p.Ile983Leu)
c.2938A>T (p.Ile980Leu)
c.2899A>T (p.Ile967Leu)
c.2845A>T (p.Ile949Leu)
c.2749A>T (p.Ile917Leu)
c.2719A>T (p.Ile907Leu)
c.2644A>T (p.Ile882Leu)
c.2542A>T (p.Ile848Leu)
c.2173A>T (p.Ile725Leu)
 dbSNP
5g.112838617T>ACA16027944APCc.2688T>A (n.2688T>A)
c.3077T>A (p.Ile1026Lys)
c.*3029T>A (n.*3029T>A)
c.2969T>A (p.Ile990Lys)
c.3023T>A (p.Ile1008Lys)
c.1376T>A
c.*2345T>A (n.*2345T>A)
c.230+9645T>A
c.3053T>A (p.Ile1018Lys)
c.2948T>A (p.Ile983Lys)
c.2939T>A (p.Ile980Lys)
c.2900T>A (p.Ile967Lys)
c.2846T>A (p.Ile949Lys)
c.2750T>A (p.Ile917Lys)
c.2720T>A (p.Ile907Lys)
c.2645T>A (p.Ile882Lys)
c.2543T>A (p.Ile848Lys)
c.2174T>A (p.Ile725Lys)
 dbSNP
5g.112838617T>CCA16027945APCc.2688T>C (n.2688T>C)
c.3077T>C (p.Ile1026Thr)
c.*3029T>C (n.*3029T>C)
c.2969T>C (p.Ile990Thr)
c.3023T>C (p.Ile1008Thr)
c.1376T>C
c.*2345T>C (n.*2345T>C)
c.230+9645T>C
c.3053T>C (p.Ile1018Thr)
c.2948T>C (p.Ile983Thr)
c.2939T>C (p.Ile980Thr)
c.2900T>C (p.Ile967Thr)
c.2846T>C (p.Ile949Thr)
c.2750T>C (p.Ile917Thr)
c.2720T>C (p.Ile907Thr)
c.2645T>C (p.Ile882Thr)
c.2543T>C (p.Ile848Thr)
c.2174T>C (p.Ile725Thr)
 dbSNP
5g.112838617T>GCA16027946APCc.2688T>G (n.2688T>G)
c.3077T>G (p.Ile1026Arg)
c.*3029T>G (n.*3029T>G)
c.2969T>G (p.Ile990Arg)
c.3023T>G (p.Ile1008Arg)
c.1376T>G
c.*2345T>G (n.*2345T>G)
c.230+9645T>G
c.3053T>G (p.Ile1018Arg)
c.2948T>G (p.Ile983Arg)
c.2939T>G (p.Ile980Arg)
c.2900T>G (p.Ile967Arg)
c.2846T>G (p.Ile949Arg)
c.2750T>G (p.Ile917Arg)
c.2720T>G (p.Ile907Arg)
c.2645T>G (p.Ile882Arg)
c.2543T>G (p.Ile848Arg)
c.2174T>G (p.Ile725Arg)
 dbSNP
5g.112838618A>CCA445963135APCc.2689A>C (n.2689A>C)
c.3078A>C (p.Ile1026=)
c.*3030A>C (n.*3030A>C)
c.2970A>C (p.Ile990=)
c.3024A>C (p.Ile1008=)
c.1377A>C
c.*2346A>C (n.*2346A>C)
c.230+9646A>C
c.3054A>C (p.Ile1018=)
c.2949A>C (p.Ile983=)
c.2940A>C (p.Ile980=)
c.2901A>C (p.Ile967=)
c.2847A>C (p.Ile949=)
c.2751A>C (p.Ile917=)
c.2721A>C (p.Ile907=)
c.2646A>C (p.Ile882=)
c.2544A>C (p.Ile848=)
c.2175A>C (p.Ile725=)
 dbSNP
5g.112838618A>GCA16027947APCc.2689A>G (n.2689A>G)
c.3078A>G (p.Ile1026Met)
c.*3030A>G (n.*3030A>G)
c.2970A>G (p.Ile990Met)
c.3024A>G (p.Ile1008Met)
c.1377A>G
c.*2346A>G (n.*2346A>G)
c.230+9646A>G
c.3054A>G (p.Ile1018Met)
c.2949A>G (p.Ile983Met)
c.2940A>G (p.Ile980Met)
c.2901A>G (p.Ile967Met)
c.2847A>G (p.Ile949Met)
c.2751A>G (p.Ile917Met)
c.2721A>G (p.Ile907Met)
c.2646A>G (p.Ile882Met)
c.2544A>G (p.Ile848Met)
c.2175A>G (p.Ile725Met)
 dbSNP
5g.112838618A>TCA445963136APCc.2689A>T (n.2689A>T)
c.3078A>T (p.Ile1026=)
c.*3030A>T (n.*3030A>T)
c.2970A>T (p.Ile990=)
c.3024A>T (p.Ile1008=)
c.1377A>T
c.*2346A>T (n.*2346A>T)
c.230+9646A>T
c.3054A>T (p.Ile1018=)
c.2949A>T (p.Ile983=)
c.2940A>T (p.Ile980=)
c.2901A>T (p.Ile967=)
c.2847A>T (p.Ile949=)
c.2751A>T (p.Ile917=)
c.2721A>T (p.Ile907=)
c.2646A>T (p.Ile882=)
c.2544A>T (p.Ile848=)
c.2175A>T (p.Ile725=)
 dbSNP
5g.112838618dupCA2580072818APCc.2689dup (n.2689dup)
c.3078dup (p.His1027ThrfsTer2)
c.*3030dup (n.*3030dup)
c.2970dup (p.His991ThrfsTer2)
c.3024dup (p.His1009ThrfsTer2)
c.1377dup
c.*2346dup (n.*2346dup)
c.230+9646dup
c.3054dup (p.His1019ThrfsTer2)
c.2949dup (p.His984ThrfsTer2)
c.2940dup (p.His981ThrfsTer2)
c.2901dup (p.His968ThrfsTer2)
c.2847dup (p.His950ThrfsTer2)
c.2751dup (p.His918ThrfsTer2)
c.2721dup (p.His908ThrfsTer2)
c.2646dup (p.His883ThrfsTer2)
c.2544dup (p.His849ThrfsTer2)
c.2175dup (p.His726ThrfsTer2)
 ClinVar
5g.112838619_112838620delCA2573138929APCc.2690_2691del (n.2690_2691del)
c.3079_3080del (p.His1027Ter)
c.*3031_*3032del (n.*3031_*3032del)
c.2971_2972del (p.His991Ter)
c.3025_3026del (p.His1009Ter)
c.1378_1379del
c.*2347_*2348del (n.*2347_*2348del)
c.230+9647_230+9648del
c.3055_3056del (p.His1019Ter)
c.2950_2951del (p.His984Ter)
c.2941_2942del (p.His981Ter)
c.2902_2903del (p.His968Ter)
c.2848_2849del (p.His950Ter)
c.2752_2753del (p.His918Ter)
c.2722_2723del (p.His908Ter)
c.2647_2648del (p.His883Ter)
c.2545_2546del (p.His849Ter)
c.2176_2177del (p.His726Ter)
 ClinVar dbSNP
5g.112838619C>ACA16027948APCc.2690C>A (n.2690C>A)
c.3079C>A (p.His1027Asn)
c.*3031C>A (n.*3031C>A)
c.2971C>A (p.His991Asn)
c.3025C>A (p.His1009Asn)
c.1378C>A
c.*2347C>A (n.*2347C>A)
c.230+9647C>A
c.3055C>A (p.His1019Asn)
c.2950C>A (p.His984Asn)
c.2941C>A (p.His981Asn)
c.2902C>A (p.His968Asn)
c.2848C>A (p.His950Asn)
c.2752C>A (p.His918Asn)
c.2722C>A (p.His908Asn)
c.2647C>A (p.His883Asn)
c.2545C>A (p.His849Asn)
c.2176C>A (p.His726Asn)
 dbSNP gnomAD v4
5g.112838619C=CA1573485474APCc.2690C= (n.2690C=)
c.3079C= (p.His1027=)
c.*3031C= (n.*3031C=)
c.2971C= (p.His991=)
c.3025C= (p.His1009=)
c.1378C=
c.*2347C= (n.*2347C=)
c.230+9647C=
c.3055C= (p.His1019=)
c.2950C= (p.His984=)
c.2941C= (p.His981=)
c.2902C= (p.His968=)
c.2848C= (p.His950=)
c.2752C= (p.His918=)
c.2722C= (p.His908=)
c.2647C= (p.His883=)
c.2545C= (p.His849=)
c.2176C= (p.His726=)
5g.112838619C>GCA16027949APCc.2690C>G (n.2690C>G)
c.3079C>G (p.His1027Asp)
c.*3031C>G (n.*3031C>G)
c.2971C>G (p.His991Asp)
c.3025C>G (p.His1009Asp)
c.1378C>G
c.*2347C>G (n.*2347C>G)
c.230+9647C>G
c.3055C>G (p.His1019Asp)
c.2950C>G (p.His984Asp)
c.2941C>G (p.His981Asp)
c.2902C>G (p.His968Asp)
c.2848C>G (p.His950Asp)
c.2752C>G (p.His918Asp)
c.2722C>G (p.His908Asp)
c.2647C>G (p.His883Asp)
c.2545C>G (p.His849Asp)
c.2176C>G (p.His726Asp)
 dbSNP
5g.112838619C>TCA034297APCc.2690C>T (n.2690C>T)
c.3079C>T (p.His1027Tyr)
c.*3031C>T (n.*3031C>T)
c.2971C>T (p.His991Tyr)
c.3025C>T (p.His1009Tyr)
c.1378C>T
c.*2347C>T (n.*2347C>T)
c.230+9647C>T
c.3055C>T (p.His1019Tyr)
c.2950C>T (p.His984Tyr)
c.2941C>T (p.His981Tyr)
c.2902C>T (p.His968Tyr)
c.2848C>T (p.His950Tyr)
c.2752C>T (p.His918Tyr)
c.2722C>T (p.His908Tyr)
c.2647C>T (p.His883Tyr)
c.2545C>T (p.His849Tyr)
c.2176C>T (p.His726Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112838620delCA2499217468APCc.2691del (n.2691del)
c.3080del (p.His1027LeufsTer13)
c.*3032del (n.*3032del)
c.2972del (p.His991LeufsTer13)
c.3026del (p.His1009LeufsTer13)
c.1379del
c.*2348del (n.*2348del)
c.230+9648del
c.3056del (p.His1019LeufsTer13)
c.2951del (p.His984LeufsTer13)
c.2942del (p.His981LeufsTer13)
c.2903del (p.His968LeufsTer13)
c.2849del (p.His950LeufsTer13)
c.2753del (p.His918LeufsTer13)
c.2723del (p.His908LeufsTer13)
c.2648del (p.His883LeufsTer13)
c.2546del (p.His849LeufsTer13)
c.2177del (p.His726LeufsTer13)
 ClinVar dbSNP
5g.112838620A=CA1573485487APCc.2691A= (n.2691A=)
c.3080A= (p.His1027=)
c.*3032A= (n.*3032A=)
c.2972A= (p.His991=)
c.3026A= (p.His1009=)
c.1379A=
c.*2348A= (n.*2348A=)
c.230+9648A=
c.3056A= (p.His1019=)
c.2951A= (p.His984=)
c.2942A= (p.His981=)
c.2903A= (p.His968=)
c.2849A= (p.His950=)
c.2753A= (p.His918=)
c.2723A= (p.His908=)
c.2648A= (p.His883=)
c.2546A= (p.His849=)
c.2177A= (p.His726=)
5g.112838620A>CCA16027950APCc.2691A>C (n.2691A>C)
c.3080A>C (p.His1027Pro)
c.*3032A>C (n.*3032A>C)
c.2972A>C (p.His991Pro)
c.3026A>C (p.His1009Pro)
c.1379A>C
c.*2348A>C (n.*2348A>C)
c.230+9648A>C
c.3056A>C (p.His1019Pro)
c.2951A>C (p.His984Pro)
c.2942A>C (p.His981Pro)
c.2903A>C (p.His968Pro)
c.2849A>C (p.His950Pro)
c.2753A>C (p.His918Pro)
c.2723A>C (p.His908Pro)
c.2648A>C (p.His883Pro)
c.2546A>C (p.His849Pro)
c.2177A>C (p.His726Pro)
5g.112838620A>GCA034318APCc.2691A>G (n.2691A>G)
c.3080A>G (p.His1027Arg)
c.*3032A>G (n.*3032A>G)
c.2972A>G (p.His991Arg)
c.3026A>G (p.His1009Arg)
c.1379A>G
c.*2348A>G (n.*2348A>G)
c.230+9648A>G
c.3056A>G (p.His1019Arg)
c.2951A>G (p.His984Arg)
c.2942A>G (p.His981Arg)
c.2903A>G (p.His968Arg)
c.2849A>G (p.His950Arg)
c.2753A>G (p.His918Arg)
c.2723A>G (p.His908Arg)
c.2648A>G (p.His883Arg)
c.2546A>G (p.His849Arg)
c.2177A>G (p.His726Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112838620A>TCA16027951APCc.2691A>T (n.2691A>T)
c.3080A>T (p.His1027Leu)
c.*3032A>T (n.*3032A>T)
c.2972A>T (p.His991Leu)
c.3026A>T (p.His1009Leu)
c.1379A>T
c.*2348A>T (n.*2348A>T)
c.230+9648A>T
c.3056A>T (p.His1019Leu)
c.2951A>T (p.His984Leu)
c.2942A>T (p.His981Leu)
c.2903A>T (p.His968Leu)
c.2849A>T (p.His950Leu)
c.2753A>T (p.His918Leu)
c.2723A>T (p.His908Leu)
c.2648A>T (p.His883Leu)
c.2546A>T (p.His849Leu)
c.2177A>T (p.His726Leu)
5g.112838621_112838622dupCA658760863APCc.2692_2693dup (n.2692_2693dup)
c.3081_3082dup (p.Ser1028IlefsTer13)
c.*3033_*3034dup (n.*3033_*3034dup)
c.2973_2974dup (p.Ser992IlefsTer13)
c.3027_3028dup (p.Ser1010IlefsTer13)
c.1380_1381dup
c.*2349_*2350dup (n.*2349_*2350dup)
c.230+9649_230+9650dup
c.3057_3058dup (p.Ser1020IlefsTer13)
c.2952_2953dup (p.Ser985IlefsTer13)
c.2943_2944dup (p.Ser982IlefsTer13)
c.2904_2905dup (p.Ser969IlefsTer13)
c.2850_2851dup (p.Ser951IlefsTer13)
c.2754_2755dup (p.Ser919IlefsTer13)
c.2724_2725dup (p.Ser909IlefsTer13)
c.2649_2650dup (p.Ser884IlefsTer13)
c.2547_2548dup (p.Ser850IlefsTer13)
c.2178_2179dup (p.Ser727IlefsTer13)
5g.112838621delCA645543548APCc.2692del (n.2692del)
c.3081del (p.His1027GlnfsTer13)
c.*3033del (n.*3033del)
c.2973del (p.His991GlnfsTer13)
c.3027del (p.His1009GlnfsTer13)
c.1380del
c.*2349del (n.*2349del)
c.230+9649del
c.3057del (p.His1019GlnfsTer13)
c.2952del (p.His984GlnfsTer13)
c.2943del (p.His981GlnfsTer13)
c.2904del (p.His968GlnfsTer13)
c.2850del (p.His950GlnfsTer13)
c.2754del (p.His918GlnfsTer13)
c.2724del (p.His908GlnfsTer13)
c.2649del (p.His883GlnfsTer13)
c.2547del (p.His849GlnfsTer13)
c.2178del (p.His726GlnfsTer13)
 COSMIC
5g.112838621T>ACA16027952APCc.2692T>A (n.2692T>A)
c.3081T>A (p.His1027Gln)
c.*3033T>A (n.*3033T>A)
c.2973T>A (p.His991Gln)
c.3027T>A (p.His1009Gln)
c.1380T>A
c.*2349T>A (n.*2349T>A)
c.230+9649T>A
c.3057T>A (p.His1019Gln)
c.2952T>A (p.His984Gln)
c.2943T>A (p.His981Gln)
c.2904T>A (p.His968Gln)
c.2850T>A (p.His950Gln)
c.2754T>A (p.His918Gln)
c.2724T>A (p.His908Gln)
c.2649T>A (p.His883Gln)
c.2547T>A (p.His849Gln)
c.2178T>A (p.His726Gln)
 dbSNP
5g.112838621T>CCA16605154APCc.2692T>C (n.2692T>C)
c.3081T>C (p.His1027=)
c.*3033T>C (n.*3033T>C)
c.2973T>C (p.His991=)
c.3027T>C (p.His1009=)
c.1380T>C
c.*2349T>C (n.*2349T>C)
c.230+9649T>C
c.3057T>C (p.His1019=)
c.2952T>C (p.His984=)
c.2943T>C (p.His981=)
c.2904T>C (p.His968=)
c.2850T>C (p.His950=)
c.2754T>C (p.His918=)
c.2724T>C (p.His908=)
c.2649T>C (p.His883=)
c.2547T>C (p.His849=)
c.2178T>C (p.His726=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838621T>GCA16027953APCc.2692T>G (n.2692T>G)
c.3081T>G (p.His1027Gln)
c.*3033T>G (n.*3033T>G)
c.2973T>G (p.His991Gln)
c.3027T>G (p.His1009Gln)
c.1380T>G
c.*2349T>G (n.*2349T>G)
c.230+9649T>G
c.3057T>G (p.His1019Gln)
c.2952T>G (p.His984Gln)
c.2943T>G (p.His981Gln)
c.2904T>G (p.His968Gln)
c.2850T>G (p.His950Gln)
c.2754T>G (p.His918Gln)
c.2724T>G (p.His908Gln)
c.2649T>G (p.His883Gln)
c.2547T>G (p.His849Gln)
c.2178T>G (p.His726Gln)
5g.112838621T=CA1573485494APCc.2692T= (n.2692T=)
c.3081T= (p.His1027=)
c.*3033T= (n.*3033T=)
c.2973T= (p.His991=)
c.3027T= (p.His1009=)
c.1380T=
c.*2349T= (n.*2349T=)
c.230+9649T=
c.3057T= (p.His1019=)
c.2952T= (p.His984=)
c.2943T= (p.His981=)
c.2904T= (p.His968=)
c.2850T= (p.His950=)
c.2754T= (p.His918=)
c.2724T= (p.His908=)
c.2649T= (p.His883=)
c.2547T= (p.His849=)
c.2178T= (p.His726=)
5g.112838621_112838622delinsTACA1573485504APCc.2692_2693delinsTA (n.2692_2693delinsTA)
c.3081_3082delinsTA (p.His1027=)
c.*3033_*3034delinsTA (n.*3033_*3034delinsTA)
c.2973_2974delinsTA (p.His991=)
c.3027_3028delinsTA (p.His1009=)
c.1380_1381delinsTA
c.*2349_*2350delinsTA (n.*2349_*2350delinsTA)
c.230+9649_230+9650delinsTA
c.3057_3058delinsTA (p.His1019=)
c.2952_2953delinsTA (p.His984=)
c.2943_2944delinsTA (p.His981=)
c.2904_2905delinsTA (p.His968=)
c.2850_2851delinsTA (p.His950=)
c.2754_2755delinsTA (p.His918=)
c.2724_2725delinsTA (p.His908=)
c.2649_2650delinsTA (p.His883=)
c.2547_2548delinsTA (p.His849=)
c.2178_2179delinsTA (p.His726=)
5g.112838622delCA645372783APCc.2693del (n.2693del)
c.3082del (p.Ser1028ValfsTer12)
c.*3034del (n.*3034del)
c.2974del (p.Ser992ValfsTer12)
c.3028del (p.Ser1010ValfsTer12)
c.1381del
c.*2350del (n.*2350del)
c.230+9650del
c.3058del (p.Ser1020ValfsTer12)
c.2953del (p.Ser985ValfsTer12)
c.2944del (p.Ser982ValfsTer12)
c.2905del (p.Ser969ValfsTer12)
c.2851del (p.Ser951ValfsTer12)
c.2755del (p.Ser919ValfsTer12)
c.2725del (p.Ser909ValfsTer12)
c.2650del (p.Ser884ValfsTer12)
c.2548del (p.Ser850ValfsTer12)
c.2179del (p.Ser727ValfsTer12)
 ClinVar dbSNP COSMIC
5g.112838622A=CA1573485521APCc.2693A= (n.2693A=)
c.3082A= (p.Ser1028=)
c.*3034A= (n.*3034A=)
c.2974A= (p.Ser992=)
c.3028A= (p.Ser1010=)
c.1381A=
c.*2350A= (n.*2350A=)
c.230+9650A=
c.3058A= (p.Ser1020=)
c.2953A= (p.Ser985=)
c.2944A= (p.Ser982=)
c.2905A= (p.Ser969=)
c.2851A= (p.Ser951=)
c.2755A= (p.Ser919=)
c.2725A= (p.Ser909=)
c.2650A= (p.Ser884=)
c.2548A= (p.Ser850=)
c.2179A= (p.Ser727=)
5g.112838622A>CCA16027954APCc.2693A>C (n.2693A>C)
c.3082A>C (p.Ser1028Arg)
c.*3034A>C (n.*3034A>C)
c.2974A>C (p.Ser992Arg)
c.3028A>C (p.Ser1010Arg)
c.1381A>C
c.*2350A>C (n.*2350A>C)
c.230+9650A>C
c.3058A>C (p.Ser1020Arg)
c.2953A>C (p.Ser985Arg)
c.2944A>C (p.Ser982Arg)
c.2905A>C (p.Ser969Arg)
c.2851A>C (p.Ser951Arg)
c.2755A>C (p.Ser919Arg)
c.2725A>C (p.Ser909Arg)
c.2650A>C (p.Ser884Arg)
c.2548A>C (p.Ser850Arg)
c.2179A>C (p.Ser727Arg)
5g.112838622A>GCA16027955APCc.2693A>G (n.2693A>G)
c.3082A>G (p.Ser1028Gly)
c.*3034A>G (n.*3034A>G)
c.2974A>G (p.Ser992Gly)
c.3028A>G (p.Ser1010Gly)
c.1381A>G
c.*2350A>G (n.*2350A>G)
c.230+9650A>G
c.3058A>G (p.Ser1020Gly)
c.2953A>G (p.Ser985Gly)
c.2944A>G (p.Ser982Gly)
c.2905A>G (p.Ser969Gly)
c.2851A>G (p.Ser951Gly)
c.2755A>G (p.Ser919Gly)
c.2725A>G (p.Ser909Gly)
c.2650A>G (p.Ser884Gly)
c.2548A>G (p.Ser850Gly)
c.2179A>G (p.Ser727Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838622A>TCA16027956APCc.2693A>T (n.2693A>T)
c.3082A>T (p.Ser1028Cys)
c.*3034A>T (n.*3034A>T)
c.2974A>T (p.Ser992Cys)
c.3028A>T (p.Ser1010Cys)
c.1381A>T
c.*2350A>T (n.*2350A>T)
c.230+9650A>T
c.3058A>T (p.Ser1020Cys)
c.2953A>T (p.Ser985Cys)
c.2944A>T (p.Ser982Cys)
c.2905A>T (p.Ser969Cys)
c.2851A>T (p.Ser951Cys)
c.2755A>T (p.Ser919Cys)
c.2725A>T (p.Ser909Cys)
c.2650A>T (p.Ser884Cys)
c.2548A>T (p.Ser850Cys)
c.2179A>T (p.Ser727Cys)
 ClinVar dbSNP
5g.112838622_112838624delinsTAGCA645543549APCc.2693_2695delinsTAG (n.2693_2695delinsTAG)
c.3082_3084delinsTAG (p.Ser1028Ter)
c.*3034_*3036delinsTAG (n.*3034_*3036delinsTAG)
c.2974_2976delinsTAG (p.Ser992Ter)
c.3028_3030delinsTAG (p.Ser1010Ter)
c.1381_1383delinsTAG
c.*2350_*2352delinsTAG (n.*2350_*2352delinsTAG)
c.230+9650_230+9652delinsTAG
c.3058_3060delinsTAG (p.Ser1020Ter)
c.2953_2955delinsTAG (p.Ser985Ter)
c.2944_2946delinsTAG (p.Ser982Ter)
c.2905_2907delinsTAG (p.Ser969Ter)
c.2851_2853delinsTAG (p.Ser951Ter)
c.2755_2757delinsTAG (p.Ser919Ter)
c.2725_2727delinsTAG (p.Ser909Ter)
c.2650_2652delinsTAG (p.Ser884Ter)
c.2548_2550delinsTAG (p.Ser850Ter)
c.2179_2181delinsTAG (p.Ser727Ter)
 COSMIC
5g.112838623G>ACA348296APCc.2694G>A (n.2694G>A)
c.3083G>A (p.Ser1028Asn)
c.*3035G>A (n.*3035G>A)
c.2975G>A (p.Ser992Asn)
c.3029G>A (p.Ser1010Asn)
c.1382G>A
c.*2351G>A (n.*2351G>A)
c.230+9651G>A
c.3059G>A (p.Ser1020Asn)
c.2954G>A (p.Ser985Asn)
c.2945G>A (p.Ser982Asn)
c.2906G>A (p.Ser969Asn)
c.2852G>A (p.Ser951Asn)
c.2756G>A (p.Ser919Asn)
c.2726G>A (p.Ser909Asn)
c.2651G>A (p.Ser884Asn)
c.2549G>A (p.Ser850Asn)
c.2180G>A (p.Ser727Asn)
 ClinVar dbSNP gnomAD v4
5g.112838623G>CCA16027957APCc.2694G>C (n.2694G>C)
c.3083G>C (p.Ser1028Thr)
c.*3035G>C (n.*3035G>C)
c.2975G>C (p.Ser992Thr)
c.3029G>C (p.Ser1010Thr)
c.1382G>C
c.*2351G>C (n.*2351G>C)
c.230+9651G>C
c.3059G>C (p.Ser1020Thr)
c.2954G>C (p.Ser985Thr)
c.2945G>C (p.Ser982Thr)
c.2906G>C (p.Ser969Thr)
c.2852G>C (p.Ser951Thr)
c.2756G>C (p.Ser919Thr)
c.2726G>C (p.Ser909Thr)
c.2651G>C (p.Ser884Thr)
c.2549G>C (p.Ser850Thr)
c.2180G>C (p.Ser727Thr)
 dbSNP
5g.112838623G=CA1573485537APCc.2694G= (n.2694G=)
c.3083G= (p.Ser1028=)
c.*3035G= (n.*3035G=)
c.2975G= (p.Ser992=)
c.3029G= (p.Ser1010=)
c.1382G=
c.*2351G= (n.*2351G=)
c.230+9651G=
c.3059G= (p.Ser1020=)
c.2954G= (p.Ser985=)
c.2945G= (p.Ser982=)
c.2906G= (p.Ser969=)
c.2852G= (p.Ser951=)
c.2756G= (p.Ser919=)
c.2726G= (p.Ser909=)
c.2651G= (p.Ser884=)
c.2549G= (p.Ser850=)
c.2180G= (p.Ser727=)
5g.112838623G>TCA16027958APCc.2694G>T (n.2694G>T)
c.3083G>T (p.Ser1028Ile)
c.*3035G>T (n.*3035G>T)
c.2975G>T (p.Ser992Ile)
c.3029G>T (p.Ser1010Ile)
c.1382G>T
c.*2351G>T (n.*2351G>T)
c.230+9651G>T
c.3059G>T (p.Ser1020Ile)
c.2954G>T (p.Ser985Ile)
c.2945G>T (p.Ser982Ile)
c.2906G>T (p.Ser969Ile)
c.2852G>T (p.Ser951Ile)
c.2756G>T (p.Ser919Ile)
c.2726G>T (p.Ser909Ile)
c.2651G>T (p.Ser884Ile)
c.2549G>T (p.Ser850Ile)
c.2180G>T (p.Ser727Ile)
 dbSNP
5g.112838624T>ACA16027959APCc.2695T>A (n.2695T>A)
c.3084T>A (p.Ser1028Arg)
c.*3036T>A (n.*3036T>A)
c.2976T>A (p.Ser992Arg)
c.3030T>A (p.Ser1010Arg)
c.1383T>A
c.*2352T>A (n.*2352T>A)
c.230+9652T>A
c.3060T>A (p.Ser1020Arg)
c.2955T>A (p.Ser985Arg)
c.2946T>A (p.Ser982Arg)
c.2907T>A (p.Ser969Arg)
c.2853T>A (p.Ser951Arg)
c.2757T>A (p.Ser919Arg)
c.2727T>A (p.Ser909Arg)
c.2652T>A (p.Ser884Arg)
c.2550T>A (p.Ser850Arg)
c.2181T>A (p.Ser727Arg)
 dbSNP
5g.112838624T>CCA445963137APCc.2695T>C (n.2695T>C)
c.3084T>C (p.Ser1028=)
c.*3036T>C (n.*3036T>C)
c.2976T>C (p.Ser992=)
c.3030T>C (p.Ser1010=)
c.1383T>C
c.*2352T>C (n.*2352T>C)
c.230+9652T>C
c.3060T>C (p.Ser1020=)
c.2955T>C (p.Ser985=)
c.2946T>C (p.Ser982=)
c.2907T>C (p.Ser969=)
c.2853T>C (p.Ser951=)
c.2757T>C (p.Ser919=)
c.2727T>C (p.Ser909=)
c.2652T>C (p.Ser884=)
c.2550T>C (p.Ser850=)
c.2181T>C (p.Ser727=)
 ClinVar dbSNP
5g.112838624T>GCA16027960APCc.2695T>G (n.2695T>G)
c.3084T>G (p.Ser1028Arg)
c.*3036T>G (n.*3036T>G)
c.2976T>G (p.Ser992Arg)
c.3030T>G (p.Ser1010Arg)
c.1383T>G
c.*2352T>G (n.*2352T>G)
c.230+9652T>G
c.3060T>G (p.Ser1020Arg)
c.2955T>G (p.Ser985Arg)
c.2946T>G (p.Ser982Arg)
c.2907T>G (p.Ser969Arg)
c.2853T>G (p.Ser951Arg)
c.2757T>G (p.Ser919Arg)
c.2727T>G (p.Ser909Arg)
c.2652T>G (p.Ser884Arg)
c.2550T>G (p.Ser850Arg)
c.2181T>G (p.Ser727Arg)
 dbSNP
5g.112838624T=CA1573485542APCc.2695T= (n.2695T=)
c.3084T= (p.Ser1028=)
c.*3036T= (n.*3036T=)
c.2976T= (p.Ser992=)
c.3030T= (p.Ser1010=)
c.1383T=
c.*2352T= (n.*2352T=)
c.230+9652T=
c.3060T= (p.Ser1020=)
c.2955T= (p.Ser985=)
c.2946T= (p.Ser982=)
c.2907T= (p.Ser969=)
c.2853T= (p.Ser951=)
c.2757T= (p.Ser919=)
c.2727T= (p.Ser909=)
c.2652T= (p.Ser884=)
c.2550T= (p.Ser850=)
c.2181T= (p.Ser727=)
5g.112838625G>ACA16027961APCc.2696G>A (n.2696G>A)
c.3085G>A (p.Ala1029Thr)
c.*3037G>A (n.*3037G>A)
c.2977G>A (p.Ala993Thr)
c.3031G>A (p.Ala1011Thr)
c.1384G>A
c.*2353G>A (n.*2353G>A)
c.230+9653G>A
c.3061G>A (p.Ala1021Thr)
c.2956G>A (p.Ala986Thr)
c.2947G>A (p.Ala983Thr)
c.2908G>A (p.Ala970Thr)
c.2854G>A (p.Ala952Thr)
c.2758G>A (p.Ala920Thr)
c.2728G>A (p.Ala910Thr)
c.2653G>A (p.Ala885Thr)
c.2551G>A (p.Ala851Thr)
c.2182G>A (p.Ala728Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112838625G>CCA16027962APCc.2696G>C (n.2696G>C)
c.3085G>C (p.Ala1029Pro)
c.*3037G>C (n.*3037G>C)
c.2977G>C (p.Ala993Pro)
c.3031G>C (p.Ala1011Pro)
c.1384G>C
c.*2353G>C (n.*2353G>C)
c.230+9653G>C
c.3061G>C (p.Ala1021Pro)
c.2956G>C (p.Ala986Pro)
c.2947G>C (p.Ala983Pro)
c.2908G>C (p.Ala970Pro)
c.2854G>C (p.Ala952Pro)
c.2758G>C (p.Ala920Pro)
c.2728G>C (p.Ala910Pro)
c.2653G>C (p.Ala885Pro)
c.2551G>C (p.Ala851Pro)
c.2182G>C (p.Ala728Pro)
5g.112838625G=CA1573485545APCc.2696G= (n.2696G=)
c.3085G= (p.Ala1029=)
c.*3037G= (n.*3037G=)
c.2977G= (p.Ala993=)
c.3031G= (p.Ala1011=)
c.1384G=
c.*2353G= (n.*2353G=)
c.230+9653G=
c.3061G= (p.Ala1021=)
c.2956G= (p.Ala986=)
c.2947G= (p.Ala983=)
c.2908G= (p.Ala970=)
c.2854G= (p.Ala952=)
c.2758G= (p.Ala920=)
c.2728G= (p.Ala910=)
c.2653G= (p.Ala885=)
c.2551G= (p.Ala851=)
c.2182G= (p.Ala728=)
5g.112838625G>TCA16027963APCc.2696G>T (n.2696G>T)
c.3085G>T (p.Ala1029Ser)
c.*3037G>T (n.*3037G>T)
c.2977G>T (p.Ala993Ser)
c.3031G>T (p.Ala1011Ser)
c.1384G>T
c.*2353G>T (n.*2353G>T)
c.230+9653G>T
c.3061G>T (p.Ala1021Ser)
c.2956G>T (p.Ala986Ser)
c.2947G>T (p.Ala983Ser)
c.2908G>T (p.Ala970Ser)
c.2854G>T (p.Ala952Ser)
c.2758G>T (p.Ala920Ser)
c.2728G>T (p.Ala910Ser)
c.2653G>T (p.Ala885Ser)
c.2551G>T (p.Ala851Ser)
c.2182G>T (p.Ala728Ser)
5g.112838626C>ACA16027964APCc.2697C>A (n.2697C>A)
c.3086C>A (p.Ala1029Glu)
c.*3038C>A (n.*3038C>A)
c.2978C>A (p.Ala993Glu)
c.3032C>A (p.Ala1011Glu)
c.1385C>A
c.*2354C>A (n.*2354C>A)
c.230+9654C>A
c.3062C>A (p.Ala1021Glu)
c.2957C>A (p.Ala986Glu)
c.2948C>A (p.Ala983Glu)
c.2909C>A (p.Ala970Glu)
c.2855C>A (p.Ala952Glu)
c.2759C>A (p.Ala920Glu)
c.2729C>A (p.Ala910Glu)
c.2654C>A (p.Ala885Glu)
c.2552C>A (p.Ala851Glu)
c.2183C>A (p.Ala728Glu)
 ClinVar dbSNP
5g.112838626C=CA1573485553APCc.2697C= (n.2697C=)
c.3086C= (p.Ala1029=)
c.*3038C= (n.*3038C=)
c.2978C= (p.Ala993=)
c.3032C= (p.Ala1011=)
c.1385C=
c.*2354C= (n.*2354C=)
c.230+9654C=
c.3062C= (p.Ala1021=)
c.2957C= (p.Ala986=)
c.2948C= (p.Ala983=)
c.2909C= (p.Ala970=)
c.2855C= (p.Ala952=)
c.2759C= (p.Ala920=)
c.2729C= (p.Ala910=)
c.2654C= (p.Ala885=)
c.2552C= (p.Ala851=)
c.2183C= (p.Ala728=)
5g.112838626C>GCA16027965APCc.2697C>G (n.2697C>G)
c.3086C>G (p.Ala1029Gly)
c.*3038C>G (n.*3038C>G)
c.2978C>G (p.Ala993Gly)
c.3032C>G (p.Ala1011Gly)
c.1385C>G
c.*2354C>G (n.*2354C>G)
c.230+9654C>G
c.3062C>G (p.Ala1021Gly)
c.2957C>G (p.Ala986Gly)
c.2948C>G (p.Ala983Gly)
c.2909C>G (p.Ala970Gly)
c.2855C>G (p.Ala952Gly)
c.2759C>G (p.Ala920Gly)
c.2729C>G (p.Ala910Gly)
c.2654C>G (p.Ala885Gly)
c.2552C>G (p.Ala851Gly)
c.2183C>G (p.Ala728Gly)
 ClinVar dbSNP
5g.112838626C>TCA16027966APCc.2697C>T (n.2697C>T)
c.3086C>T (p.Ala1029Val)
c.*3038C>T (n.*3038C>T)
c.2978C>T (p.Ala993Val)
c.3032C>T (p.Ala1011Val)
c.1385C>T
c.*2354C>T (n.*2354C>T)
c.230+9654C>T
c.3062C>T (p.Ala1021Val)
c.2957C>T (p.Ala986Val)
c.2948C>T (p.Ala983Val)
c.2909C>T (p.Ala970Val)
c.2855C>T (p.Ala952Val)
c.2759C>T (p.Ala920Val)
c.2729C>T (p.Ala910Val)
c.2654C>T (p.Ala885Val)
c.2552C>T (p.Ala851Val)
c.2183C>T (p.Ala728Val)
 ClinVar dbSNP
5g.112838627A>CCA445963138APCc.2698A>C (n.2698A>C)
c.3087A>C (p.Ala1029=)
c.*3039A>C (n.*3039A>C)
c.2979A>C (p.Ala993=)
c.3033A>C (p.Ala1011=)
c.1386A>C
c.*2355A>C (n.*2355A>C)
c.230+9655A>C
c.3063A>C (p.Ala1021=)
c.2958A>C (p.Ala986=)
c.2949A>C (p.Ala983=)
c.2910A>C (p.Ala970=)
c.2856A>C (p.Ala952=)
c.2760A>C (p.Ala920=)
c.2730A>C (p.Ala910=)
c.2655A>C (p.Ala885=)
c.2553A>C (p.Ala851=)
c.2184A>C (p.Ala728=)
5g.112838627A>GCA445963139APCc.2698A>G (n.2698A>G)
c.3087A>G (p.Ala1029=)
c.*3039A>G (n.*3039A>G)
c.2979A>G (p.Ala993=)
c.3033A>G (p.Ala1011=)
c.1386A>G
c.*2355A>G (n.*2355A>G)
c.230+9655A>G
c.3063A>G (p.Ala1021=)
c.2958A>G (p.Ala986=)
c.2949A>G (p.Ala983=)
c.2910A>G (p.Ala970=)
c.2856A>G (p.Ala952=)
c.2760A>G (p.Ala920=)
c.2730A>G (p.Ala910=)
c.2655A>G (p.Ala885=)
c.2553A>G (p.Ala851=)
c.2184A>G (p.Ala728=)
 dbSNP
5g.112838627A>TCA445963140APCc.2698A>T (n.2698A>T)
c.3087A>T (p.Ala1029=)
c.*3039A>T (n.*3039A>T)
c.2979A>T (p.Ala993=)
c.3033A>T (p.Ala1011=)
c.1386A>T
c.*2355A>T (n.*2355A>T)
c.230+9655A>T
c.3063A>T (p.Ala1021=)
c.2958A>T (p.Ala986=)
c.2949A>T (p.Ala983=)
c.2910A>T (p.Ala970=)
c.2856A>T (p.Ala952=)
c.2760A>T (p.Ala920=)
c.2730A>T (p.Ala910=)
c.2655A>T (p.Ala885=)
c.2553A>T (p.Ala851=)
c.2184A>T (p.Ala728=)
 dbSNP
5g.112838628A>CCA16027967APCc.2699A>C (n.2699A>C)
c.3088A>C (p.Asn1030His)
c.*3040A>C (n.*3040A>C)
c.2980A>C (p.Asn994His)
c.3034A>C (p.Asn1012His)
c.1387A>C
c.*2356A>C (n.*2356A>C)
c.230+9656A>C
c.3064A>C (p.Asn1022His)
c.2959A>C (p.Asn987His)
c.2950A>C (p.Asn984His)
c.2911A>C (p.Asn971His)
c.2857A>C (p.Asn953His)
c.2761A>C (p.Asn921His)
c.2731A>C (p.Asn911His)
c.2656A>C (p.Asn886His)
c.2554A>C (p.Asn852His)
c.2185A>C (p.Asn729His)
5g.112838628A>GCA16027968APCc.2699A>G (n.2699A>G)
c.3088A>G (p.Asn1030Asp)
c.*3040A>G (n.*3040A>G)
c.2980A>G (p.Asn994Asp)
c.3034A>G (p.Asn1012Asp)
c.1387A>G
c.*2356A>G (n.*2356A>G)
c.230+9656A>G
c.3064A>G (p.Asn1022Asp)
c.2959A>G (p.Asn987Asp)
c.2950A>G (p.Asn984Asp)
c.2911A>G (p.Asn971Asp)
c.2857A>G (p.Asn953Asp)
c.2761A>G (p.Asn921Asp)
c.2731A>G (p.Asn911Asp)
c.2656A>G (p.Asn886Asp)
c.2554A>G (p.Asn852Asp)
c.2185A>G (p.Asn729Asp)
 ClinVar dbSNP
5g.112838628A>TCA16027969APCc.2699A>T (n.2699A>T)
c.3088A>T (p.Asn1030Tyr)
c.*3040A>T (n.*3040A>T)
c.2980A>T (p.Asn994Tyr)
c.3034A>T (p.Asn1012Tyr)
c.1387A>T
c.*2356A>T (n.*2356A>T)
c.230+9656A>T
c.3064A>T (p.Asn1022Tyr)
c.2959A>T (p.Asn987Tyr)
c.2950A>T (p.Asn984Tyr)
c.2911A>T (p.Asn971Tyr)
c.2857A>T (p.Asn953Tyr)
c.2761A>T (p.Asn921Tyr)
c.2731A>T (p.Asn911Tyr)
c.2656A>T (p.Asn886Tyr)
c.2554A>T (p.Asn852Tyr)
c.2185A>T (p.Asn729Tyr)
 dbSNP
5g.112838628_112838631delinsAATCCA1573485575APCc.2699_2702delinsAATC (n.2699_2702delinsAATC)
c.3088_3091delinsAATC (p.Asn1030=)
c.*3040_*3043delinsAATC (n.*3040_*3043delinsAATC)
c.2980_2983delinsAATC (p.Asn994=)
c.3034_3037delinsAATC (p.Asn1012=)
c.1387_1390delinsAATC
c.*2356_*2359delinsAATC (n.*2356_*2359delinsAATC)
c.230+9656_230+9659delinsAATC
c.3064_3067delinsAATC (p.Asn1022=)
c.2959_2962delinsAATC (p.Asn987=)
c.2950_2953delinsAATC (p.Asn984=)
c.2911_2914delinsAATC (p.Asn971=)
c.2857_2860delinsAATC (p.Asn953=)
c.2761_2764delinsAATC (p.Asn921=)
c.2731_2734delinsAATC (p.Asn911=)
c.2656_2659delinsAATC (p.Asn886=)
c.2554_2557delinsAATC (p.Asn852=)
c.2185_2188delinsAATC (p.Asn729=)
5g.112838629A=CA1573485588APCc.2700A= (n.2700A=)
c.3089A= (p.Asn1030=)
c.*3041A= (n.*3041A=)
c.2981A= (p.Asn994=)
c.3035A= (p.Asn1012=)
c.1388A=
c.*2357A= (n.*2357A=)
c.230+9657A=
c.3065A= (p.Asn1022=)
c.2960A= (p.Asn987=)
c.2951A= (p.Asn984=)
c.2912A= (p.Asn971=)
c.2858A= (p.Asn953=)
c.2762A= (p.Asn921=)
c.2732A= (p.Asn911=)
c.2657A= (p.Asn886=)
c.2555A= (p.Asn852=)
c.2186A= (p.Asn729=)
5g.112838629A>CCA16027970APCc.2700A>C (n.2700A>C)
c.3089A>C (p.Asn1030Thr)
c.*3041A>C (n.*3041A>C)
c.2981A>C (p.Asn994Thr)
c.3035A>C (p.Asn1012Thr)
c.1388A>C
c.*2357A>C (n.*2357A>C)
c.230+9657A>C
c.3065A>C (p.Asn1022Thr)
c.2960A>C (p.Asn987Thr)
c.2951A>C (p.Asn984Thr)
c.2912A>C (p.Asn971Thr)
c.2858A>C (p.Asn953Thr)
c.2762A>C (p.Asn921Thr)
c.2732A>C (p.Asn911Thr)
c.2657A>C (p.Asn886Thr)
c.2555A>C (p.Asn852Thr)
c.2186A>C (p.Asn729Thr)
5g.112838629A>GCA16027971APCc.2700A>G (n.2700A>G)
c.3089A>G (p.Asn1030Ser)
c.*3041A>G (n.*3041A>G)
c.2981A>G (p.Asn994Ser)
c.3035A>G (p.Asn1012Ser)
c.1388A>G
c.*2357A>G (n.*2357A>G)
c.230+9657A>G
c.3065A>G (p.Asn1022Ser)
c.2960A>G (p.Asn987Ser)
c.2951A>G (p.Asn984Ser)
c.2912A>G (p.Asn971Ser)
c.2858A>G (p.Asn953Ser)
c.2762A>G (p.Asn921Ser)
c.2732A>G (p.Asn911Ser)
c.2657A>G (p.Asn886Ser)
c.2555A>G (p.Asn852Ser)
c.2186A>G (p.Asn729Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838629A>TCA16027972APCc.2700A>T (n.2700A>T)
c.3089A>T (p.Asn1030Ile)
c.*3041A>T (n.*3041A>T)
c.2981A>T (p.Asn994Ile)
c.3035A>T (p.Asn1012Ile)
c.1388A>T
c.*2357A>T (n.*2357A>T)
c.230+9657A>T
c.3065A>T (p.Asn1022Ile)
c.2960A>T (p.Asn987Ile)
c.2951A>T (p.Asn984Ile)
c.2912A>T (p.Asn971Ile)
c.2858A>T (p.Asn953Ile)
c.2762A>T (p.Asn921Ile)
c.2732A>T (p.Asn911Ile)
c.2657A>T (p.Asn886Ile)
c.2555A>T (p.Asn852Ile)
c.2186A>T (p.Asn729Ile)
 dbSNP
5g.112838629_112838631delinsTCA658683400APCc.2700_2702delinsT (n.2700_2702delinsT)
c.3089_3091delinsT (p.Asn1030IlefsTer4)
c.*3041_*3043delinsT (n.*3041_*3043delinsT)
c.2981_2983delinsT (p.Asn994IlefsTer4)
c.3035_3037delinsT (p.Asn1012IlefsTer4)
c.1388_1390delinsT
c.*2357_*2359delinsT (n.*2357_*2359delinsT)
c.230+9657_230+9659delinsT
c.3065_3067delinsT (p.Asn1022IlefsTer4)
c.2960_2962delinsT (p.Asn987IlefsTer4)
c.2951_2953delinsT (p.Asn984IlefsTer4)
c.2912_2914delinsT (p.Asn971IlefsTer4)
c.2858_2860delinsT (p.Asn953IlefsTer4)
c.2762_2764delinsT (p.Asn921IlefsTer4)
c.2732_2734delinsT (p.Asn911IlefsTer4)
c.2657_2659delinsT (p.Asn886IlefsTer4)
c.2555_2557delinsT (p.Asn852IlefsTer4)
c.2186_2188delinsT (p.Asn729IlefsTer4)
 ClinVar dbSNP
5g.112838630T>ACA16027973APCc.2701T>A (n.2701T>A)
c.3090T>A (p.Asn1030Lys)
c.*3042T>A (n.*3042T>A)
c.2982T>A (p.Asn994Lys)
c.3036T>A (p.Asn1012Lys)
c.1389T>A
c.*2358T>A (n.*2358T>A)
c.230+9658T>A
c.3066T>A (p.Asn1022Lys)
c.2961T>A (p.Asn987Lys)
c.2952T>A (p.Asn984Lys)
c.2913T>A (p.Asn971Lys)
c.2859T>A (p.Asn953Lys)
c.2763T>A (p.Asn921Lys)
c.2733T>A (p.Asn911Lys)
c.2658T>A (p.Asn886Lys)
c.2556T>A (p.Asn852Lys)
c.2187T>A (p.Asn729Lys)
 ClinVar dbSNP
5g.112838630T>CCA445963141APCc.2701T>C (n.2701T>C)
c.3090T>C (p.Asn1030=)
c.*3042T>C (n.*3042T>C)
c.2982T>C (p.Asn994=)
c.3036T>C (p.Asn1012=)
c.1389T>C
c.*2358T>C (n.*2358T>C)
c.230+9658T>C
c.3066T>C (p.Asn1022=)
c.2961T>C (p.Asn987=)
c.2952T>C (p.Asn984=)
c.2913T>C (p.Asn971=)
c.2859T>C (p.Asn953=)
c.2763T>C (p.Asn921=)
c.2733T>C (p.Asn911=)
c.2658T>C (p.Asn886=)
c.2556T>C (p.Asn852=)
c.2187T>C (p.Asn729=)
 ClinVar
5g.112838630T>GCA16027974APCc.2701T>G (n.2701T>G)
c.3090T>G (p.Asn1030Lys)
c.*3042T>G (n.*3042T>G)
c.2982T>G (p.Asn994Lys)
c.3036T>G (p.Asn1012Lys)
c.1389T>G
c.*2358T>G (n.*2358T>G)
c.230+9658T>G
c.3066T>G (p.Asn1022Lys)
c.2961T>G (p.Asn987Lys)
c.2952T>G (p.Asn984Lys)
c.2913T>G (p.Asn971Lys)
c.2859T>G (p.Asn953Lys)
c.2763T>G (p.Asn921Lys)
c.2733T>G (p.Asn911Lys)
c.2658T>G (p.Asn886Lys)
c.2556T>G (p.Asn852Lys)
c.2187T>G (p.Asn729Lys)
 ClinVar dbSNP
5g.112838631C>ACA16027975APCc.2702C>A (n.2702C>A)
c.3091C>A (p.His1031Asn)
c.*3043C>A (n.*3043C>A)
c.2983C>A (p.His995Asn)
c.3037C>A (p.His1013Asn)
c.1390C>A
c.*2359C>A (n.*2359C>A)
c.230+9659C>A
c.3067C>A (p.His1023Asn)
c.2962C>A (p.His988Asn)
c.2953C>A (p.His985Asn)
c.2914C>A (p.His972Asn)
c.2860C>A (p.His954Asn)
c.2764C>A (p.His922Asn)
c.2734C>A (p.His912Asn)
c.2659C>A (p.His887Asn)
c.2557C>A (p.His853Asn)
c.2188C>A (p.His730Asn)
 dbSNP gnomAD v4
5g.112838631C>GCA16027976APCc.2702C>G (n.2702C>G)
c.3091C>G (p.His1031Asp)
c.*3043C>G (n.*3043C>G)
c.2983C>G (p.His995Asp)
c.3037C>G (p.His1013Asp)
c.1390C>G
c.*2359C>G (n.*2359C>G)
c.230+9659C>G
c.3067C>G (p.His1023Asp)
c.2962C>G (p.His988Asp)
c.2953C>G (p.His985Asp)
c.2914C>G (p.His972Asp)
c.2860C>G (p.His954Asp)
c.2764C>G (p.His922Asp)
c.2734C>G (p.His912Asp)
c.2659C>G (p.His887Asp)
c.2557C>G (p.His853Asp)
c.2188C>G (p.His730Asp)
 dbSNP
5g.112838631C>TCA16027977APCc.2702C>T (n.2702C>T)
c.3091C>T (p.His1031Tyr)
c.*3043C>T (n.*3043C>T)
c.2983C>T (p.His995Tyr)
c.3037C>T (p.His1013Tyr)
c.1390C>T
c.*2359C>T (n.*2359C>T)
c.230+9659C>T
c.3067C>T (p.His1023Tyr)
c.2962C>T (p.His988Tyr)
c.2953C>T (p.His985Tyr)
c.2914C>T (p.His972Tyr)
c.2860C>T (p.His954Tyr)
c.2764C>T (p.His922Tyr)
c.2734C>T (p.His912Tyr)
c.2659C>T (p.His887Tyr)
c.2557C>T (p.His853Tyr)
c.2188C>T (p.His730Tyr)
 ClinVar dbSNP gnomAD v4
5g.112838632A=CA1573485594APCc.2703A= (n.2703A=)
c.3092A= (p.His1031=)
c.*3044A= (n.*3044A=)
c.2984A= (p.His995=)
c.3038A= (p.His1013=)
c.1391A=
c.*2360A= (n.*2360A=)
c.230+9660A=
c.3068A= (p.His1023=)
c.2963A= (p.His988=)
c.2954A= (p.His985=)
c.2915A= (p.His972=)
c.2861A= (p.His954=)
c.2765A= (p.His922=)
c.2735A= (p.His912=)
c.2660A= (p.His887=)
c.2558A= (p.His853=)
c.2189A= (p.His730=)
5g.112838632A>CCA16027978APCc.2703A>C (n.2703A>C)
c.3092A>C (p.His1031Pro)
c.*3044A>C (n.*3044A>C)
c.2984A>C (p.His995Pro)
c.3038A>C (p.His1013Pro)
c.1391A>C
c.*2360A>C (n.*2360A>C)
c.230+9660A>C
c.3068A>C (p.His1023Pro)
c.2963A>C (p.His988Pro)
c.2954A>C (p.His985Pro)
c.2915A>C (p.His972Pro)
c.2861A>C (p.His954Pro)
c.2765A>C (p.His922Pro)
c.2735A>C (p.His912Pro)
c.2660A>C (p.His887Pro)
c.2558A>C (p.His853Pro)
c.2189A>C (p.His730Pro)
 ClinVar
5g.112838632A>GCA16027979APCc.2703A>G (n.2703A>G)
c.3092A>G (p.His1031Arg)
c.*3044A>G (n.*3044A>G)
c.2984A>G (p.His995Arg)
c.3038A>G (p.His1013Arg)
c.1391A>G
c.*2360A>G (n.*2360A>G)
c.230+9660A>G
c.3068A>G (p.His1023Arg)
c.2963A>G (p.His988Arg)
c.2954A>G (p.His985Arg)
c.2915A>G (p.His972Arg)
c.2861A>G (p.His954Arg)
c.2765A>G (p.His922Arg)
c.2735A>G (p.His912Arg)
c.2660A>G (p.His887Arg)
c.2558A>G (p.His853Arg)
c.2189A>G (p.His730Arg)
 ClinVar dbSNP gnomAD v4
5g.112838632A>TCA16027980APCc.2703A>T (n.2703A>T)
c.3092A>T (p.His1031Leu)
c.*3044A>T (n.*3044A>T)
c.2984A>T (p.His995Leu)
c.3038A>T (p.His1013Leu)
c.1391A>T
c.*2360A>T (n.*2360A>T)
c.230+9660A>T
c.3068A>T (p.His1023Leu)
c.2963A>T (p.His988Leu)
c.2954A>T (p.His985Leu)
c.2915A>T (p.His972Leu)
c.2861A>T (p.His954Leu)
c.2765A>T (p.His922Leu)
c.2735A>T (p.His912Leu)
c.2660A>T (p.His887Leu)
c.2558A>T (p.His853Leu)
c.2189A>T (p.His730Leu)
 dbSNP gnomAD v4
5g.112838633T>ACA16027981APCc.2704T>A (n.2704T>A)
c.3093T>A (p.His1031Gln)
c.*3045T>A (n.*3045T>A)
c.2985T>A (p.His995Gln)
c.3039T>A (p.His1013Gln)
c.1392T>A
c.*2361T>A (n.*2361T>A)
c.230+9661T>A
c.3069T>A (p.His1023Gln)
c.2964T>A (p.His988Gln)
c.2955T>A (p.His985Gln)
c.2916T>A (p.His972Gln)
c.2862T>A (p.His954Gln)
c.2766T>A (p.His922Gln)
c.2736T>A (p.His912Gln)
c.2661T>A (p.His887Gln)
c.2559T>A (p.His853Gln)
c.2190T>A (p.His730Gln)
5g.112838633T>CCA445963142APCc.2704T>C (n.2704T>C)
c.3093T>C (p.His1031=)
c.*3045T>C (n.*3045T>C)
c.2985T>C (p.His995=)
c.3039T>C (p.His1013=)
c.1392T>C
c.*2361T>C (n.*2361T>C)
c.230+9661T>C
c.3069T>C (p.His1023=)
c.2964T>C (p.His988=)
c.2955T>C (p.His985=)
c.2916T>C (p.His972=)
c.2862T>C (p.His954=)
c.2766T>C (p.His922=)
c.2736T>C (p.His912=)
c.2661T>C (p.His887=)
c.2559T>C (p.His853=)
c.2190T>C (p.His730=)
 gnomAD v3 gnomAD v4
5g.112838633T>GCA16027982APCc.2704T>G (n.2704T>G)
c.3093T>G (p.His1031Gln)
c.*3045T>G (n.*3045T>G)
c.2985T>G (p.His995Gln)
c.3039T>G (p.His1013Gln)
c.1392T>G
c.*2361T>G (n.*2361T>G)
c.230+9661T>G
c.3069T>G (p.His1023Gln)
c.2964T>G (p.His988Gln)
c.2955T>G (p.His985Gln)
c.2916T>G (p.His972Gln)
c.2862T>G (p.His954Gln)
c.2766T>G (p.His922Gln)
c.2736T>G (p.His912Gln)
c.2661T>G (p.His887Gln)
c.2559T>G (p.His853Gln)
c.2190T>G (p.His730Gln)
5g.112838634A=CA1573485607APCc.2705A= (n.2705A=)
c.3094A= (p.Met1032=)
c.*3046A= (n.*3046A=)
c.2986A= (p.Met996=)
c.3040A= (p.Met1014=)
c.1393A=
c.*2362A= (n.*2362A=)
c.230+9662A=
c.3070A= (p.Met1024=)
c.2965A= (p.Met989=)
c.2956A= (p.Met986=)
c.2917A= (p.Met973=)
c.2863A= (p.Met955=)
c.2767A= (p.Met923=)
c.2737A= (p.Met913=)
c.2662A= (p.Met888=)
c.2560A= (p.Met854=)
c.2191A= (p.Met731=)
5g.112838634A>CCA16027983APCc.2705A>C (n.2705A>C)
c.3094A>C (p.Met1032Leu)
c.*3046A>C (n.*3046A>C)
c.2986A>C (p.Met996Leu)
c.3040A>C (p.Met1014Leu)
c.1393A>C
c.*2362A>C (n.*2362A>C)
c.230+9662A>C
c.3070A>C (p.Met1024Leu)
c.2965A>C (p.Met989Leu)
c.2956A>C (p.Met986Leu)
c.2917A>C (p.Met973Leu)
c.2863A>C (p.Met955Leu)
c.2767A>C (p.Met923Leu)
c.2737A>C (p.Met913Leu)
c.2662A>C (p.Met888Leu)
c.2560A>C (p.Met854Leu)
c.2191A>C (p.Met731Leu)
5g.112838634A>GCA16027984APCc.2705A>G (n.2705A>G)
c.3094A>G (p.Met1032Val)
c.*3046A>G (n.*3046A>G)
c.2986A>G (p.Met996Val)
c.3040A>G (p.Met1014Val)
c.1393A>G
c.*2362A>G (n.*2362A>G)
c.230+9662A>G
c.3070A>G (p.Met1024Val)
c.2965A>G (p.Met989Val)
c.2956A>G (p.Met986Val)
c.2917A>G (p.Met973Val)
c.2863A>G (p.Met955Val)
c.2767A>G (p.Met923Val)
c.2737A>G (p.Met913Val)
c.2662A>G (p.Met888Val)
c.2560A>G (p.Met854Val)
c.2191A>G (p.Met731Val)
 ClinVar dbSNP
5g.112838634A>TCA16027985APCc.2705A>T (n.2705A>T)
c.3094A>T (p.Met1032Leu)
c.*3046A>T (n.*3046A>T)
c.2986A>T (p.Met996Leu)
c.3040A>T (p.Met1014Leu)
c.1393A>T
c.*2362A>T (n.*2362A>T)
c.230+9662A>T
c.3070A>T (p.Met1024Leu)
c.2965A>T (p.Met989Leu)
c.2956A>T (p.Met986Leu)
c.2917A>T (p.Met973Leu)
c.2863A>T (p.Met955Leu)
c.2767A>T (p.Met923Leu)
c.2737A>T (p.Met913Leu)
c.2662A>T (p.Met888Leu)
c.2560A>T (p.Met854Leu)
c.2191A>T (p.Met731Leu)
 dbSNP
5g.112838634dupCA2582341478APCc.2705dup (n.2705dup)
c.3094dup (p.Met1032AsnfsTer3)
c.*3046dup (n.*3046dup)
c.2986dup (p.Met996AsnfsTer3)
c.3040dup (p.Met1014AsnfsTer3)
c.1393dup
c.*2362dup (n.*2362dup)
c.230+9662dup
c.3070dup (p.Met1024AsnfsTer3)
c.2965dup (p.Met989AsnfsTer3)
c.2956dup (p.Met986AsnfsTer3)
c.2917dup (p.Met973AsnfsTer3)
c.2863dup (p.Met955AsnfsTer3)
c.2767dup (p.Met923AsnfsTer3)
c.2737dup (p.Met913AsnfsTer3)
c.2662dup (p.Met888AsnfsTer3)
c.2560dup (p.Met854AsnfsTer3)
c.2191dup (p.Met731AsnfsTer3)
 ClinVar
5g.112838635T>ACA16027986APCc.2706T>A (n.2706T>A)
c.3095T>A (p.Met1032Lys)
c.*3047T>A (n.*3047T>A)
c.2987T>A (p.Met996Lys)
c.3041T>A (p.Met1014Lys)
c.1394T>A
c.*2363T>A (n.*2363T>A)
c.230+9663T>A
c.3071T>A (p.Met1024Lys)
c.2966T>A (p.Met989Lys)
c.2957T>A (p.Met986Lys)
c.2918T>A (p.Met973Lys)
c.2864T>A (p.Met955Lys)
c.2768T>A (p.Met923Lys)
c.2738T>A (p.Met913Lys)
c.2663T>A (p.Met888Lys)
c.2561T>A (p.Met854Lys)
c.2192T>A (p.Met731Lys)
5g.112838635T>CCA16027987APCc.2706T>C (n.2706T>C)
c.3095T>C (p.Met1032Thr)
c.*3047T>C (n.*3047T>C)
c.2987T>C (p.Met996Thr)
c.3041T>C (p.Met1014Thr)
c.1394T>C
c.*2363T>C (n.*2363T>C)
c.230+9663T>C
c.3071T>C (p.Met1024Thr)
c.2966T>C (p.Met989Thr)
c.2957T>C (p.Met986Thr)
c.2918T>C (p.Met973Thr)
c.2864T>C (p.Met955Thr)
c.2768T>C (p.Met923Thr)
c.2738T>C (p.Met913Thr)
c.2663T>C (p.Met888Thr)
c.2561T>C (p.Met854Thr)
c.2192T>C (p.Met731Thr)
5g.112838635T>GCA16027988APCc.2706T>G (n.2706T>G)
c.3095T>G (p.Met1032Arg)
c.*3047T>G (n.*3047T>G)
c.2987T>G (p.Met996Arg)
c.3041T>G (p.Met1014Arg)
c.1394T>G
c.*2363T>G (n.*2363T>G)
c.230+9663T>G
c.3071T>G (p.Met1024Arg)
c.2966T>G (p.Met989Arg)
c.2957T>G (p.Met986Arg)
c.2918T>G (p.Met973Arg)
c.2864T>G (p.Met955Arg)
c.2768T>G (p.Met923Arg)
c.2738T>G (p.Met913Arg)
c.2663T>G (p.Met888Arg)
c.2561T>G (p.Met854Arg)
c.2192T>G (p.Met731Arg)
 ClinVar
5g.112838636G>ACA16027989APCc.2707G>A (n.2707G>A)
c.3096G>A (p.Met1032Ile)
c.*3048G>A (n.*3048G>A)
c.2988G>A (p.Met996Ile)
c.3042G>A (p.Met1014Ile)
c.1395G>A
c.*2364G>A (n.*2364G>A)
c.230+9664G>A
c.3072G>A (p.Met1024Ile)
c.2967G>A (p.Met989Ile)
c.2958G>A (p.Met986Ile)
c.2919G>A (p.Met973Ile)
c.2865G>A (p.Met955Ile)
c.2769G>A (p.Met923Ile)
c.2739G>A (p.Met913Ile)
c.2664G>A (p.Met888Ile)
c.2562G>A (p.Met854Ile)
c.2193G>A (p.Met731Ile)
 dbSNP
5g.112838636G>CCA16027990APCc.2707G>C (n.2707G>C)
c.3096G>C (p.Met1032Ile)
c.*3048G>C (n.*3048G>C)
c.2988G>C (p.Met996Ile)
c.3042G>C (p.Met1014Ile)
c.1395G>C
c.*2364G>C (n.*2364G>C)
c.230+9664G>C
c.3072G>C (p.Met1024Ile)
c.2967G>C (p.Met989Ile)
c.2958G>C (p.Met986Ile)
c.2919G>C (p.Met973Ile)
c.2865G>C (p.Met955Ile)
c.2769G>C (p.Met923Ile)
c.2739G>C (p.Met913Ile)
c.2664G>C (p.Met888Ile)
c.2562G>C (p.Met854Ile)
c.2193G>C (p.Met731Ile)
5g.112838636G>TCA16027991APCc.2707G>T (n.2707G>T)
c.3096G>T (p.Met1032Ile)
c.*3048G>T (n.*3048G>T)
c.2988G>T (p.Met996Ile)
c.3042G>T (p.Met1014Ile)
c.1395G>T
c.*2364G>T (n.*2364G>T)
c.230+9664G>T
c.3072G>T (p.Met1024Ile)
c.2967G>T (p.Met989Ile)
c.2958G>T (p.Met986Ile)
c.2919G>T (p.Met973Ile)
c.2865G>T (p.Met955Ile)
c.2769G>T (p.Met923Ile)
c.2739G>T (p.Met913Ile)
c.2664G>T (p.Met888Ile)
c.2562G>T (p.Met854Ile)
c.2193G>T (p.Met731Ile)
5g.112838637G>ACA16027992APCc.2708G>A (n.2708G>A)
c.3097G>A (p.Asp1033Asn)
c.*3049G>A (n.*3049G>A)
c.2989G>A (p.Asp997Asn)
c.3043G>A (p.Asp1015Asn)
c.1396G>A
c.*2365G>A (n.*2365G>A)
c.230+9665G>A
c.3073G>A (p.Asp1025Asn)
c.2968G>A (p.Asp990Asn)
c.2959G>A (p.Asp987Asn)
c.2920G>A (p.Asp974Asn)
c.2866G>A (p.Asp956Asn)
c.2770G>A (p.Asp924Asn)
c.2740G>A (p.Asp914Asn)
c.2665G>A (p.Asp889Asn)
c.2563G>A (p.Asp855Asn)
c.2194G>A (p.Asp732Asn)
 dbSNP
5g.112838637G>CCA16027993APCc.2708G>C (n.2708G>C)
c.3097G>C (p.Asp1033His)
c.*3049G>C (n.*3049G>C)
c.2989G>C (p.Asp997His)
c.3043G>C (p.Asp1015His)
c.1396G>C
c.*2365G>C (n.*2365G>C)
c.230+9665G>C
c.3073G>C (p.Asp1025His)
c.2968G>C (p.Asp990His)
c.2959G>C (p.Asp987His)
c.2920G>C (p.Asp974His)
c.2866G>C (p.Asp956His)
c.2770G>C (p.Asp924His)
c.2740G>C (p.Asp914His)
c.2665G>C (p.Asp889His)
c.2563G>C (p.Asp855His)
c.2194G>C (p.Asp732His)
 ClinVar dbSNP gnomAD v4
5g.112838637G=CA1573485617APCc.2708G= (n.2708G=)
c.3097G= (p.Asp1033=)
c.*3049G= (n.*3049G=)
c.2989G= (p.Asp997=)
c.3043G= (p.Asp1015=)
c.1396G=
c.*2365G= (n.*2365G=)
c.230+9665G=
c.3073G= (p.Asp1025=)
c.2968G= (p.Asp990=)
c.2959G= (p.Asp987=)
c.2920G= (p.Asp974=)
c.2866G= (p.Asp956=)
c.2770G= (p.Asp924=)
c.2740G= (p.Asp914=)
c.2665G= (p.Asp889=)
c.2563G= (p.Asp855=)
c.2194G= (p.Asp732=)
5g.112838637G>TCA16027994APCc.2708G>T (n.2708G>T)
c.3097G>T (p.Asp1033Tyr)
c.*3049G>T (n.*3049G>T)
c.2989G>T (p.Asp997Tyr)
c.3043G>T (p.Asp1015Tyr)
c.1396G>T
c.*2365G>T (n.*2365G>T)
c.230+9665G>T
c.3073G>T (p.Asp1025Tyr)
c.2968G>T (p.Asp990Tyr)
c.2959G>T (p.Asp987Tyr)
c.2920G>T (p.Asp974Tyr)
c.2866G>T (p.Asp956Tyr)
c.2770G>T (p.Asp924Tyr)
c.2740G>T (p.Asp914Tyr)
c.2665G>T (p.Asp889Tyr)
c.2563G>T (p.Asp855Tyr)
c.2194G>T (p.Asp732Tyr)
 dbSNP COSMIC
5g.112838638A=CA1573485627APCc.2709A= (n.2709A=)
c.3098A= (p.Asp1033=)
c.*3050A= (n.*3050A=)
c.2990A= (p.Asp997=)
c.3044A= (p.Asp1015=)
c.1397A=
c.*2366A= (n.*2366A=)
c.230+9666A=
c.3074A= (p.Asp1025=)
c.2969A= (p.Asp990=)
c.2960A= (p.Asp987=)
c.2921A= (p.Asp974=)
c.2867A= (p.Asp956=)
c.2771A= (p.Asp924=)
c.2741A= (p.Asp914=)
c.2666A= (p.Asp889=)
c.2564A= (p.Asp855=)
c.2195A= (p.Asp732=)
5g.112838638A>CCA16027995APCc.2709A>C (n.2709A>C)
c.3098A>C (p.Asp1033Ala)
c.*3050A>C (n.*3050A>C)
c.2990A>C (p.Asp997Ala)
c.3044A>C (p.Asp1015Ala)
c.1397A>C
c.*2366A>C (n.*2366A>C)
c.230+9666A>C
c.3074A>C (p.Asp1025Ala)
c.2969A>C (p.Asp990Ala)
c.2960A>C (p.Asp987Ala)
c.2921A>C (p.Asp974Ala)
c.2867A>C (p.Asp956Ala)
c.2771A>C (p.Asp924Ala)
c.2741A>C (p.Asp914Ala)
c.2666A>C (p.Asp889Ala)
c.2564A>C (p.Asp855Ala)
c.2195A>C (p.Asp732Ala)
 dbSNP
5g.112838638A>GCA16027996APCc.2709A>G (n.2709A>G)
c.3098A>G (p.Asp1033Gly)
c.*3050A>G (n.*3050A>G)
c.2990A>G (p.Asp997Gly)
c.3044A>G (p.Asp1015Gly)
c.1397A>G
c.*2366A>G (n.*2366A>G)
c.230+9666A>G
c.3074A>G (p.Asp1025Gly)
c.2969A>G (p.Asp990Gly)
c.2960A>G (p.Asp987Gly)
c.2921A>G (p.Asp974Gly)
c.2867A>G (p.Asp956Gly)
c.2771A>G (p.Asp924Gly)
c.2741A>G (p.Asp914Gly)
c.2666A>G (p.Asp889Gly)
c.2564A>G (p.Asp855Gly)
c.2195A>G (p.Asp732Gly)
 ClinVar dbSNP
5g.112838638A>TCA16027997APCc.2709A>T (n.2709A>T)
c.3098A>T (p.Asp1033Val)
c.*3050A>T (n.*3050A>T)
c.2990A>T (p.Asp997Val)
c.3044A>T (p.Asp1015Val)
c.1397A>T
c.*2366A>T (n.*2366A>T)
c.230+9666A>T
c.3074A>T (p.Asp1025Val)
c.2969A>T (p.Asp990Val)
c.2960A>T (p.Asp987Val)
c.2921A>T (p.Asp974Val)
c.2867A>T (p.Asp956Val)
c.2771A>T (p.Asp924Val)
c.2741A>T (p.Asp914Val)
c.2666A>T (p.Asp889Val)
c.2564A>T (p.Asp855Val)
c.2195A>T (p.Asp732Val)
 dbSNP
5g.112838638_112838639delinsGCA2695204883APCc.2709_2710delinsG (n.2709_2710delinsG)
c.3098_3099delinsG (p.Asp1033GlyfsTer7)
c.*3050_*3051delinsG (n.*3050_*3051delinsG)
c.2990_2991delinsG (p.Asp997GlyfsTer7)
c.3044_3045delinsG (p.Asp1015GlyfsTer7)
c.1397_1398delinsG
c.*2366_*2367delinsG (n.*2366_*2367delinsG)
c.230+9666_230+9667delinsG
c.3074_3075delinsG (p.Asp1025GlyfsTer7)
c.2969_2970delinsG (p.Asp990GlyfsTer7)
c.2960_2961delinsG (p.Asp987GlyfsTer7)
c.2921_2922delinsG (p.Asp974GlyfsTer7)
c.2867_2868delinsG (p.Asp956GlyfsTer7)
c.2771_2772delinsG (p.Asp924GlyfsTer7)
c.2741_2742delinsG (p.Asp914GlyfsTer7)
c.2666_2667delinsG (p.Asp889GlyfsTer7)
c.2564_2565delinsG (p.Asp855GlyfsTer7)
c.2195_2196delinsG (p.Asp732GlyfsTer7)
5g.112838639T>ACA16027998APCc.2710T>A (n.2710T>A)
c.3099T>A (p.Asp1033Glu)
c.*3051T>A (n.*3051T>A)
c.2991T>A (p.Asp997Glu)
c.3045T>A (p.Asp1015Glu)
c.1398T>A
c.*2367T>A (n.*2367T>A)
c.230+9667T>A
c.3075T>A (p.Asp1025Glu)
c.2970T>A (p.Asp990Glu)
c.2961T>A (p.Asp987Glu)
c.2922T>A (p.Asp974Glu)
c.2868T>A (p.Asp956Glu)
c.2772T>A (p.Asp924Glu)
c.2742T>A (p.Asp914Glu)
c.2667T>A (p.Asp889Glu)
c.2565T>A (p.Asp855Glu)
c.2196T>A (p.Asp732Glu)
 dbSNP
5g.112838639T>CCA445963143APCc.2710T>C (n.2710T>C)
c.3099T>C (p.Asp1033=)
c.*3051T>C (n.*3051T>C)
c.2991T>C (p.Asp997=)
c.3045T>C (p.Asp1015=)
c.1398T>C
c.*2367T>C (n.*2367T>C)
c.230+9667T>C
c.3075T>C (p.Asp1025=)
c.2970T>C (p.Asp990=)
c.2961T>C (p.Asp987=)
c.2922T>C (p.Asp974=)
c.2868T>C (p.Asp956=)
c.2772T>C (p.Asp924=)
c.2742T>C (p.Asp914=)
c.2667T>C (p.Asp889=)
c.2565T>C (p.Asp855=)
c.2196T>C (p.Asp732=)
 ClinVar dbSNP gnomAD v4
5g.112838639T>GCA16027999APCc.2710T>G (n.2710T>G)
c.3099T>G (p.Asp1033Glu)
c.*3051T>G (n.*3051T>G)
c.2991T>G (p.Asp997Glu)
c.3045T>G (p.Asp1015Glu)
c.1398T>G
c.*2367T>G (n.*2367T>G)
c.230+9667T>G
c.3075T>G (p.Asp1025Glu)
c.2970T>G (p.Asp990Glu)
c.2961T>G (p.Asp987Glu)
c.2922T>G (p.Asp974Glu)
c.2868T>G (p.Asp956Glu)
c.2772T>G (p.Asp924Glu)
c.2742T>G (p.Asp914Glu)
c.2667T>G (p.Asp889Glu)
c.2565T>G (p.Asp855Glu)
c.2196T>G (p.Asp732Glu)
 dbSNP
5g.112838639T=CA1573485630APCc.2710T= (n.2710T=)
c.3099T= (p.Asp1033=)
c.*3051T= (n.*3051T=)
c.2991T= (p.Asp997=)
c.3045T= (p.Asp1015=)
c.1398T=
c.*2367T= (n.*2367T=)
c.230+9667T=
c.3075T= (p.Asp1025=)
c.2970T= (p.Asp990=)
c.2961T= (p.Asp987=)
c.2922T= (p.Asp974=)
c.2868T= (p.Asp956=)
c.2772T= (p.Asp924=)
c.2742T= (p.Asp914=)
c.2667T= (p.Asp889=)
c.2565T= (p.Asp855=)
c.2196T= (p.Asp732=)
5g.112838640G>ACA16028000APCc.2711G>A (n.2711G>A)
c.3100G>A (p.Asp1034Asn)
c.*3052G>A (n.*3052G>A)
c.2992G>A (p.Asp998Asn)
c.3046G>A (p.Asp1016Asn)
c.1399G>A
c.*2368G>A (n.*2368G>A)
c.230+9668G>A
c.3076G>A (p.Asp1026Asn)
c.2971G>A (p.Asp991Asn)
c.2962G>A (p.Asp988Asn)
c.2923G>A (p.Asp975Asn)
c.2869G>A (p.Asp957Asn)
c.2773G>A (p.Asp925Asn)
c.2743G>A (p.Asp915Asn)
c.2668G>A (p.Asp890Asn)
c.2566G>A (p.Asp856Asn)
c.2197G>A (p.Asp733Asn)
 ClinVar dbSNP
5g.112838640G>CCA16028001APCc.2711G>C (n.2711G>C)
c.3100G>C (p.Asp1034His)
c.*3052G>C (n.*3052G>C)
c.2992G>C (p.Asp998His)
c.3046G>C (p.Asp1016His)
c.1399G>C
c.*2368G>C (n.*2368G>C)
c.230+9668G>C
c.3076G>C (p.Asp1026His)
c.2971G>C (p.Asp991His)
c.2962G>C (p.Asp988His)
c.2923G>C (p.Asp975His)
c.2869G>C (p.Asp957His)
c.2773G>C (p.Asp925His)
c.2743G>C (p.Asp915His)
c.2668G>C (p.Asp890His)
c.2566G>C (p.Asp856His)
c.2197G>C (p.Asp733His)
 dbSNP
5g.112838640G=CA1573485641APCc.2711G= (n.2711G=)
c.3100G= (p.Asp1034=)
c.*3052G= (n.*3052G=)
c.2992G= (p.Asp998=)
c.3046G= (p.Asp1016=)
c.1399G=
c.*2368G= (n.*2368G=)
c.230+9668G=
c.3076G= (p.Asp1026=)
c.2971G= (p.Asp991=)
c.2962G= (p.Asp988=)
c.2923G= (p.Asp975=)
c.2869G= (p.Asp957=)
c.2773G= (p.Asp925=)
c.2743G= (p.Asp915=)
c.2668G= (p.Asp890=)
c.2566G= (p.Asp856=)
c.2197G= (p.Asp733=)
5g.112838640G>TCA16028002APCc.2711G>T (n.2711G>T)
c.3100G>T (p.Asp1034Tyr)
c.*3052G>T (n.*3052G>T)
c.2992G>T (p.Asp998Tyr)
c.3046G>T (p.Asp1016Tyr)
c.1399G>T
c.*2368G>T (n.*2368G>T)
c.230+9668G>T
c.3076G>T (p.Asp1026Tyr)
c.2971G>T (p.Asp991Tyr)
c.2962G>T (p.Asp988Tyr)
c.2923G>T (p.Asp975Tyr)
c.2869G>T (p.Asp957Tyr)
c.2773G>T (p.Asp925Tyr)
c.2743G>T (p.Asp915Tyr)
c.2668G>T (p.Asp890Tyr)
c.2566G>T (p.Asp856Tyr)
c.2197G>T (p.Asp733Tyr)
 ClinVar dbSNP
5g.112838640_112838643delinsGATACA1573485639APCc.2711_2714delinsGATA (n.2711_2714delinsGATA)
c.3100_3103delinsGATA (p.Asp1034=)
c.*3052_*3055delinsGATA (n.*3052_*3055delinsGATA)
c.2992_2995delinsGATA (p.Asp998=)
c.3046_3049delinsGATA (p.Asp1016=)
c.1399_1402delinsGATA
c.*2368_*2371delinsGATA (n.*2368_*2371delinsGATA)
c.230+9668_230+9671delinsGATA
c.3076_3079delinsGATA (p.Asp1026=)
c.2971_2974delinsGATA (p.Asp991=)
c.2962_2965delinsGATA (p.Asp988=)
c.2923_2926delinsGATA (p.Asp975=)
c.2869_2872delinsGATA (p.Asp957=)
c.2773_2776delinsGATA (p.Asp925=)
c.2743_2746delinsGATA (p.Asp915=)
c.2668_2671delinsGATA (p.Asp890=)
c.2566_2569delinsGATA (p.Asp856=)
c.2197_2200delinsGATA (p.Asp733=)
5g.112838641A=CA1573485653APCc.2712A= (n.2712A=)
c.3101A= (p.Asp1034=)
c.*3053A= (n.*3053A=)
c.2993A= (p.Asp998=)
c.3047A= (p.Asp1016=)
c.1400A=
c.*2369A= (n.*2369A=)
c.230+9669A=
c.3077A= (p.Asp1026=)
c.2972A= (p.Asp991=)
c.2963A= (p.Asp988=)
c.2924A= (p.Asp975=)
c.2870A= (p.Asp957=)
c.2774A= (p.Asp925=)
c.2744A= (p.Asp915=)
c.2669A= (p.Asp890=)
c.2567A= (p.Asp856=)
c.2198A= (p.Asp733=)
5g.112838641A>CCA16028003APCc.2712A>C (n.2712A>C)
c.3101A>C (p.Asp1034Ala)
c.*3053A>C (n.*3053A>C)
c.2993A>C (p.Asp998Ala)
c.3047A>C (p.Asp1016Ala)
c.1400A>C
c.*2369A>C (n.*2369A>C)
c.230+9669A>C
c.3077A>C (p.Asp1026Ala)
c.2972A>C (p.Asp991Ala)
c.2963A>C (p.Asp988Ala)
c.2924A>C (p.Asp975Ala)
c.2870A>C (p.Asp957Ala)
c.2774A>C (p.Asp925Ala)
c.2744A>C (p.Asp915Ala)
c.2669A>C (p.Asp890Ala)
c.2567A>C (p.Asp856Ala)
c.2198A>C (p.Asp733Ala)
 dbSNP
5g.112838641A>GCA16028004APCc.2712A>G (n.2712A>G)
c.3101A>G (p.Asp1034Gly)
c.*3053A>G (n.*3053A>G)
c.2993A>G (p.Asp998Gly)
c.3047A>G (p.Asp1016Gly)
c.1400A>G
c.*2369A>G (n.*2369A>G)
c.230+9669A>G
c.3077A>G (p.Asp1026Gly)
c.2972A>G (p.Asp991Gly)
c.2963A>G (p.Asp988Gly)
c.2924A>G (p.Asp975Gly)
c.2870A>G (p.Asp957Gly)
c.2774A>G (p.Asp925Gly)
c.2744A>G (p.Asp915Gly)
c.2669A>G (p.Asp890Gly)
c.2567A>G (p.Asp856Gly)
c.2198A>G (p.Asp733Gly)
 dbSNP
5g.112838641A>TCA16028005APCc.2712A>T (n.2712A>T)
c.3101A>T (p.Asp1034Val)
c.*3053A>T (n.*3053A>T)
c.2993A>T (p.Asp998Val)
c.3047A>T (p.Asp1016Val)
c.1400A>T
c.*2369A>T (n.*2369A>T)
c.230+9669A>T
c.3077A>T (p.Asp1026Val)
c.2972A>T (p.Asp991Val)
c.2963A>T (p.Asp988Val)
c.2924A>T (p.Asp975Val)
c.2870A>T (p.Asp957Val)
c.2774A>T (p.Asp925Val)
c.2744A>T (p.Asp915Val)
c.2669A>T (p.Asp890Val)
c.2567A>T (p.Asp856Val)
c.2198A>T (p.Asp733Val)
 ClinVar dbSNP
5g.112838643_112838645delCA008002APCc.2714_2716del (n.2714_2716del)
c.3103_3105del (p.Asn1035del)
c.*3055_*3057del (n.*3055_*3057del)
c.2995_2997del (p.Asn999del)
c.3049_3051del (p.Asn1017del)
c.1402_1404del
c.*2371_*2373del (n.*2371_*2373del)
c.230+9671_230+9673del
c.3079_3081del (p.Asn1027del)
c.2974_2976del (p.Asn992del)
c.2965_2967del (p.Asn989del)
c.2926_2928del (p.Asn976del)
c.2872_2874del (p.Asn958del)
c.2776_2778del (p.Asn926del)
c.2746_2748del (p.Asn916del)
c.2671_2673del (p.Asn891del)
c.2569_2571del (p.Asn857del)
c.2200_2202del (p.Asn734del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838642T>ACA16028006APCc.2713T>A (n.2713T>A)
c.3102T>A (p.Asp1034Glu)
c.*3054T>A (n.*3054T>A)
c.2994T>A (p.Asp998Glu)
c.3048T>A (p.Asp1016Glu)
c.1401T>A
c.*2370T>A (n.*2370T>A)
c.230+9670T>A
c.3078T>A (p.Asp1026Glu)
c.2973T>A (p.Asp991Glu)
c.2964T>A (p.Asp988Glu)
c.2925T>A (p.Asp975Glu)
c.2871T>A (p.Asp957Glu)
c.2775T>A (p.Asp925Glu)
c.2745T>A (p.Asp915Glu)
c.2670T>A (p.Asp890Glu)
c.2568T>A (p.Asp856Glu)
c.2199T>A (p.Asp733Glu)
5g.112838642T>CCA445963144APCc.2713T>C (n.2713T>C)
c.3102T>C (p.Asp1034=)
c.*3054T>C (n.*3054T>C)
c.2994T>C (p.Asp998=)
c.3048T>C (p.Asp1016=)
c.1401T>C
c.*2370T>C (n.*2370T>C)
c.230+9670T>C
c.3078T>C (p.Asp1026=)
c.2973T>C (p.Asp991=)
c.2964T>C (p.Asp988=)
c.2925T>C (p.Asp975=)
c.2871T>C (p.Asp957=)
c.2775T>C (p.Asp925=)
c.2745T>C (p.Asp915=)
c.2670T>C (p.Asp890=)
c.2568T>C (p.Asp856=)
c.2199T>C (p.Asp733=)
 ClinVar dbSNP gnomAD v4
5g.112838642T>GCA16028007APCc.2713T>G (n.2713T>G)
c.3102T>G (p.Asp1034Glu)
c.*3054T>G (n.*3054T>G)
c.2994T>G (p.Asp998Glu)
c.3048T>G (p.Asp1016Glu)
c.1401T>G
c.*2370T>G (n.*2370T>G)
c.230+9670T>G
c.3078T>G (p.Asp1026Glu)
c.2973T>G (p.Asp991Glu)
c.2964T>G (p.Asp988Glu)
c.2925T>G (p.Asp975Glu)
c.2871T>G (p.Asp957Glu)
c.2775T>G (p.Asp925Glu)
c.2745T>G (p.Asp915Glu)
c.2670T>G (p.Asp890Glu)
c.2568T>G (p.Asp856Glu)
c.2199T>G (p.Asp733Glu)
 dbSNP
5g.112838643A=CA1573485665APCc.2714A= (n.2714A=)
c.3103A= (p.Asn1035=)
c.*3055A= (n.*3055A=)
c.2995A= (p.Asn999=)
c.3049A= (p.Asn1017=)
c.1402A=
c.*2371A= (n.*2371A=)
c.230+9671A=
c.3079A= (p.Asn1027=)
c.2974A= (p.Asn992=)
c.2965A= (p.Asn989=)
c.2926A= (p.Asn976=)
c.2872A= (p.Asn958=)
c.2776A= (p.Asn926=)
c.2746A= (p.Asn916=)
c.2671A= (p.Asn891=)
c.2569A= (p.Asn857=)
c.2200A= (p.Asn734=)
5g.112838643A>CCA16028008APCc.2714A>C (n.2714A>C)
c.3103A>C (p.Asn1035His)
c.*3055A>C (n.*3055A>C)
c.2995A>C (p.Asn999His)
c.3049A>C (p.Asn1017His)
c.1402A>C
c.*2371A>C (n.*2371A>C)
c.230+9671A>C
c.3079A>C (p.Asn1027His)
c.2974A>C (p.Asn992His)
c.2965A>C (p.Asn989His)
c.2926A>C (p.Asn976His)
c.2872A>C (p.Asn958His)
c.2776A>C (p.Asn926His)
c.2746A>C (p.Asn916His)
c.2671A>C (p.Asn891His)
c.2569A>C (p.Asn857His)
c.2200A>C (p.Asn734His)
5g.112838643A>GCA16028009APCc.2714A>G (n.2714A>G)
c.3103A>G (p.Asn1035Asp)
c.*3055A>G (n.*3055A>G)
c.2995A>G (p.Asn999Asp)
c.3049A>G (p.Asn1017Asp)
c.1402A>G
c.*2371A>G (n.*2371A>G)
c.230+9671A>G
c.3079A>G (p.Asn1027Asp)
c.2974A>G (p.Asn992Asp)
c.2965A>G (p.Asn989Asp)
c.2926A>G (p.Asn976Asp)
c.2872A>G (p.Asn958Asp)
c.2776A>G (p.Asn926Asp)
c.2746A>G (p.Asn916Asp)
c.2671A>G (p.Asn891Asp)
c.2569A>G (p.Asn857Asp)
c.2200A>G (p.Asn734Asp)
 ClinVar dbSNP
5g.112838643A>TCA16028010APCc.2714A>T (n.2714A>T)
c.3103A>T (p.Asn1035Tyr)
c.*3055A>T (n.*3055A>T)
c.2995A>T (p.Asn999Tyr)
c.3049A>T (p.Asn1017Tyr)
c.1402A>T
c.*2371A>T (n.*2371A>T)
c.230+9671A>T
c.3079A>T (p.Asn1027Tyr)
c.2974A>T (p.Asn992Tyr)
c.2965A>T (p.Asn989Tyr)
c.2926A>T (p.Asn976Tyr)
c.2872A>T (p.Asn958Tyr)
c.2776A>T (p.Asn926Tyr)
c.2746A>T (p.Asn916Tyr)
c.2671A>T (p.Asn891Tyr)
c.2569A>T (p.Asn857Tyr)
c.2200A>T (p.Asn734Tyr)
 dbSNP
5g.112838644_112838647delCA658760864APCc.2715_2718del (n.2715_2718del)
c.3104_3107del (p.Asn1035MetfsTer4)
c.*3056_*3059del (n.*3056_*3059del)
c.2996_2999del (p.Asn999MetfsTer4)
c.3050_3053del (p.Asn1017MetfsTer4)
c.1403_1406del
c.*2372_*2375del (n.*2372_*2375del)
c.230+9672_230+9675del
c.3080_3083del (p.Asn1027MetfsTer4)
c.2975_2978del (p.Asn992MetfsTer4)
c.2966_2969del (p.Asn989MetfsTer4)
c.2927_2930del (p.Asn976MetfsTer4)
c.2873_2876del (p.Asn958MetfsTer4)
c.2777_2780del (p.Asn926MetfsTer4)
c.2747_2750del (p.Asn916MetfsTer4)
c.2672_2675del (p.Asn891MetfsTer4)
c.2570_2573del (p.Asn857MetfsTer4)
c.2201_2204del (p.Asn734MetfsTer4)
5g.112838644A=CA1573485668APCc.2715A= (n.2715A=)
c.3104A= (p.Asn1035=)
c.*3056A= (n.*3056A=)
c.2996A= (p.Asn999=)
c.3050A= (p.Asn1017=)
c.1403A=
c.*2372A= (n.*2372A=)
c.230+9672A=
c.3080A= (p.Asn1027=)
c.2975A= (p.Asn992=)
c.2966A= (p.Asn989=)
c.2927A= (p.Asn976=)
c.2873A= (p.Asn958=)
c.2777A= (p.Asn926=)
c.2747A= (p.Asn916=)
c.2672A= (p.Asn891=)
c.2570A= (p.Asn857=)
c.2201A= (p.Asn734=)
5g.112838644A>CCA16028011APCc.2715A>C (n.2715A>C)
c.3104A>C (p.Asn1035Thr)
c.*3056A>C (n.*3056A>C)
c.2996A>C (p.Asn999Thr)
c.3050A>C (p.Asn1017Thr)
c.1403A>C
c.*2372A>C (n.*2372A>C)
c.230+9672A>C
c.3080A>C (p.Asn1027Thr)
c.2975A>C (p.Asn992Thr)
c.2966A>C (p.Asn989Thr)
c.2927A>C (p.Asn976Thr)
c.2873A>C (p.Asn958Thr)
c.2777A>C (p.Asn926Thr)
c.2747A>C (p.Asn916Thr)
c.2672A>C (p.Asn891Thr)
c.2570A>C (p.Asn857Thr)
c.2201A>C (p.Asn734Thr)
5g.112838644A>GCA16028012APCc.2715A>G (n.2715A>G)
c.3104A>G (p.Asn1035Ser)
c.*3056A>G (n.*3056A>G)
c.2996A>G (p.Asn999Ser)
c.3050A>G (p.Asn1017Ser)
c.1403A>G
c.*2372A>G (n.*2372A>G)
c.230+9672A>G
c.3080A>G (p.Asn1027Ser)
c.2975A>G (p.Asn992Ser)
c.2966A>G (p.Asn989Ser)
c.2927A>G (p.Asn976Ser)
c.2873A>G (p.Asn958Ser)
c.2777A>G (p.Asn926Ser)
c.2747A>G (p.Asn916Ser)
c.2672A>G (p.Asn891Ser)
c.2570A>G (p.Asn857Ser)
c.2201A>G (p.Asn734Ser)
 ClinVar dbSNP
5g.112838644A>TCA16028013APCc.2715A>T (n.2715A>T)
c.3104A>T (p.Asn1035Ile)
c.*3056A>T (n.*3056A>T)
c.2996A>T (p.Asn999Ile)
c.3050A>T (p.Asn1017Ile)
c.1403A>T
c.*2372A>T (n.*2372A>T)
c.230+9672A>T
c.3080A>T (p.Asn1027Ile)
c.2975A>T (p.Asn992Ile)
c.2966A>T (p.Asn989Ile)
c.2927A>T (p.Asn976Ile)
c.2873A>T (p.Asn958Ile)
c.2777A>T (p.Asn926Ile)
c.2747A>T (p.Asn916Ile)
c.2672A>T (p.Asn891Ile)
c.2570A>T (p.Asn857Ile)
c.2201A>T (p.Asn734Ile)
 ClinVar dbSNP
5g.112838645T>ACA16028014APCc.2716T>A (n.2716T>A)
c.3105T>A (p.Asn1035Lys)
c.*3057T>A (n.*3057T>A)
c.2997T>A (p.Asn999Lys)
c.3051T>A (p.Asn1017Lys)
c.1404T>A
c.*2373T>A (n.*2373T>A)
c.230+9673T>A
c.3081T>A (p.Asn1027Lys)
c.2976T>A (p.Asn992Lys)
c.2967T>A (p.Asn989Lys)
c.2928T>A (p.Asn976Lys)
c.2874T>A (p.Asn958Lys)
c.2778T>A (p.Asn926Lys)
c.2748T>A (p.Asn916Lys)
c.2673T>A (p.Asn891Lys)
c.2571T>A (p.Asn857Lys)
c.2202T>A (p.Asn734Lys)
 dbSNP
5g.112838645T>CCA445963145APCc.2716T>C (n.2716T>C)
c.3105T>C (p.Asn1035=)
c.*3057T>C (n.*3057T>C)
c.2997T>C (p.Asn999=)
c.3051T>C (p.Asn1017=)
c.1404T>C
c.*2373T>C (n.*2373T>C)
c.230+9673T>C
c.3081T>C (p.Asn1027=)
c.2976T>C (p.Asn992=)
c.2967T>C (p.Asn989=)
c.2928T>C (p.Asn976=)
c.2874T>C (p.Asn958=)
c.2778T>C (p.Asn926=)
c.2748T>C (p.Asn916=)
c.2673T>C (p.Asn891=)
c.2571T>C (p.Asn857=)
c.2202T>C (p.Asn734=)
 ClinVar dbSNP gnomAD v4
5g.112838645T>GCA16028015APCc.2716T>G (n.2716T>G)
c.3105T>G (p.Asn1035Lys)
c.*3057T>G (n.*3057T>G)
c.2997T>G (p.Asn999Lys)
c.3051T>G (p.Asn1017Lys)
c.1404T>G
c.*2373T>G (n.*2373T>G)
c.230+9673T>G
c.3081T>G (p.Asn1027Lys)
c.2976T>G (p.Asn992Lys)
c.2967T>G (p.Asn989Lys)
c.2928T>G (p.Asn976Lys)
c.2874T>G (p.Asn958Lys)
c.2778T>G (p.Asn926Lys)
c.2748T>G (p.Asn916Lys)
c.2673T>G (p.Asn891Lys)
c.2571T>G (p.Asn857Lys)
c.2202T>G (p.Asn734Lys)
5g.112838645T=CA1573485679APCc.2716T= (n.2716T=)
c.3105T= (p.Asn1035=)
c.*3057T= (n.*3057T=)
c.2997T= (p.Asn999=)
c.3051T= (p.Asn1017=)
c.1404T=
c.*2373T= (n.*2373T=)
c.230+9673T=
c.3081T= (p.Asn1027=)
c.2976T= (p.Asn992=)
c.2967T= (p.Asn989=)
c.2928T= (p.Asn976=)
c.2874T= (p.Asn958=)
c.2778T= (p.Asn926=)
c.2748T= (p.Asn916=)
c.2673T= (p.Asn891=)
c.2571T= (p.Asn857=)
c.2202T= (p.Asn734=)
5g.112838645_112838646insTTGGCATAACA2556810982APCc.2716_2717insTTGGCATAA (n.2716_2717insTTGGCATAA)
c.3105_3106insTTGGCATAA
c.*3057_*3058insTTGGCATAA (n.*3057_*3058insTTGGCATAA)
c.2997_2998insTTGGCATAA
c.3051_3052insTTGGCATAA
c.1404_1405insTTGGCATAA
c.*2373_*2374insTTGGCATAA (n.*2373_*2374insTTGGCATAA)
c.230+9673_230+9674insTTGGCATAA
c.3081_3082insTTGGCATAA
c.2976_2977insTTGGCATAA
c.2967_2968insTTGGCATAA
c.2928_2929insTTGGCATAA
c.2874_2875insTTGGCATAA
c.2778_2779insTTGGCATAA
c.2748_2749insTTGGCATAA
c.2673_2674insTTGGCATAA
c.2571_2572insTTGGCATAA
c.2202_2203insTTGGCATAA
5g.112838646delCA645543550APCc.2717del (n.2717del)
c.3106del (p.Asp1036MetfsTer4)
c.*3058del (n.*3058del)
c.2998del (p.Asp1000MetfsTer4)
c.3052del (p.Asp1018MetfsTer4)
c.1405del
c.*2374del (n.*2374del)
c.230+9674del
c.3082del (p.Asp1028MetfsTer4)
c.2977del (p.Asp993MetfsTer4)
c.2968del (p.Asp990MetfsTer4)
c.2929del (p.Asp977MetfsTer4)
c.2875del (p.Asp959MetfsTer4)
c.2779del (p.Asp927MetfsTer4)
c.2749del (p.Asp917MetfsTer4)
c.2674del (p.Asp892MetfsTer4)
c.2572del (p.Asp858MetfsTer4)
c.2203del (p.Asp735MetfsTer4)
 COSMIC
5g.112838646G>ACA008010APCc.2717G>A (n.2717G>A)
c.3106G>A (p.Asp1036Asn)
c.*3058G>A (n.*3058G>A)
c.2998G>A (p.Asp1000Asn)
c.3052G>A (p.Asp1018Asn)
c.1405G>A
c.*2374G>A (n.*2374G>A)
c.230+9674G>A
c.3082G>A (p.Asp1028Asn)
c.2977G>A (p.Asp993Asn)
c.2968G>A (p.Asp990Asn)
c.2929G>A (p.Asp977Asn)
c.2875G>A (p.Asp959Asn)
c.2779G>A (p.Asp927Asn)
c.2749G>A (p.Asp917Asn)
c.2674G>A (p.Asp892Asn)
c.2572G>A (p.Asp858Asn)
c.2203G>A (p.Asp735Asn)
 ClinVar dbSNP gnomAD v4
5g.112838646G>CCA16028016APCc.2717G>C (n.2717G>C)
c.3106G>C (p.Asp1036His)
c.*3058G>C (n.*3058G>C)
c.2998G>C (p.Asp1000His)
c.3052G>C (p.Asp1018His)
c.1405G>C
c.*2374G>C (n.*2374G>C)
c.230+9674G>C
c.3082G>C (p.Asp1028His)
c.2977G>C (p.Asp993His)
c.2968G>C (p.Asp990His)
c.2929G>C (p.Asp977His)
c.2875G>C (p.Asp959His)
c.2779G>C (p.Asp927His)
c.2749G>C (p.Asp917His)
c.2674G>C (p.Asp892His)
c.2572G>C (p.Asp858His)
c.2203G>C (p.Asp735His)
 ClinVar dbSNP
5g.112838646G=CA1573485693APCc.2717G= (n.2717G=)
c.3106G= (p.Asp1036=)
c.*3058G= (n.*3058G=)
c.2998G= (p.Asp1000=)
c.3052G= (p.Asp1018=)
c.1405G=
c.*2374G= (n.*2374G=)
c.230+9674G=
c.3082G= (p.Asp1028=)
c.2977G= (p.Asp993=)
c.2968G= (p.Asp990=)
c.2929G= (p.Asp977=)
c.2875G= (p.Asp959=)
c.2779G= (p.Asp927=)
c.2749G= (p.Asp917=)
c.2674G= (p.Asp892=)
c.2572G= (p.Asp858=)
c.2203G= (p.Asp735=)
5g.112838646G>TCA16028017APCc.2717G>T (n.2717G>T)
c.3106G>T (p.Asp1036Tyr)
c.*3058G>T (n.*3058G>T)
c.2998G>T (p.Asp1000Tyr)
c.3052G>T (p.Asp1018Tyr)
c.1405G>T
c.*2374G>T (n.*2374G>T)
c.230+9674G>T
c.3082G>T (p.Asp1028Tyr)
c.2977G>T (p.Asp993Tyr)
c.2968G>T (p.Asp990Tyr)
c.2929G>T (p.Asp977Tyr)
c.2875G>T (p.Asp959Tyr)
c.2779G>T (p.Asp927Tyr)
c.2749G>T (p.Asp917Tyr)
c.2674G>T (p.Asp892Tyr)
c.2572G>T (p.Asp858Tyr)
c.2203G>T (p.Asp735Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838648_112838651delCA658760865APCc.2719_2722del (n.2719_2722del)
c.3108_3111del (p.Asp1036GlufsTer3)
c.*3060_*3063del (n.*3060_*3063del)
c.3000_3003del (p.Asp1000GlufsTer3)
c.3054_3057del (p.Asp1018GlufsTer3)
c.1407_1410del
c.*2376_*2379del (n.*2376_*2379del)
c.230+9676_230+9679del
c.3084_3087del (p.Asp1028GlufsTer3)
c.2979_2982del (p.Asp993GlufsTer3)
c.2970_2973del (p.Asp990GlufsTer3)
c.2931_2934del (p.Asp977GlufsTer3)
c.2877_2880del (p.Asp959GlufsTer3)
c.2781_2784del (p.Asp927GlufsTer3)
c.2751_2754del (p.Asp917GlufsTer3)
c.2676_2679del (p.Asp892GlufsTer3)
c.2574_2577del (p.Asp858GlufsTer3)
c.2205_2208del (p.Asp735GlufsTer3)
5g.112838646_112838656delinsGATGGAGAACTCA1573485701APCc.2717_2727delinsGATGGAGAACT (n.2717_2727delinsGATGGAGAACT)
c.3106_3116delinsGATGGAGAACT (p.Asp1036=)
c.*3058_*3068delinsGATGGAGAACT (n.*3058_*3068delinsGATGGAGAACT)
c.2998_3008delinsGATGGAGAACT (p.Asp1000=)
c.3052_3062delinsGATGGAGAACT (p.Asp1018=)
c.1405_1415delinsGATGGAGAACT
c.*2374_*2384delinsGATGGAGAACT (n.*2374_*2384delinsGATGGAGAACT)
c.230+9674_230+9684delinsGATGGAGAACT
c.3082_3092delinsGATGGAGAACT (p.Asp1028=)
c.2977_2987delinsGATGGAGAACT (p.Asp993=)
c.2968_2978delinsGATGGAGAACT (p.Asp990=)
c.2929_2939delinsGATGGAGAACT (p.Asp977=)
c.2875_2885delinsGATGGAGAACT (p.Asp959=)
c.2779_2789delinsGATGGAGAACT (p.Asp927=)
c.2749_2759delinsGATGGAGAACT (p.Asp917=)
c.2674_2684delinsGATGGAGAACT (p.Asp892=)
c.2572_2582delinsGATGGAGAACT (p.Asp858=)
c.2203_2213delinsGATGGAGAACT (p.Asp735=)
5g.112838647A=CA1573485710APCc.2718A= (n.2718A=)
c.3107A= (p.Asp1036=)
c.*3059A= (n.*3059A=)
c.2999A= (p.Asp1000=)
c.3053A= (p.Asp1018=)
c.1406A=
c.*2375A= (n.*2375A=)
c.230+9675A=
c.3083A= (p.Asp1028=)
c.2978A= (p.Asp993=)
c.2969A= (p.Asp990=)
c.2930A= (p.Asp977=)
c.2876A= (p.Asp959=)
c.2780A= (p.Asp927=)
c.2750A= (p.Asp917=)
c.2675A= (p.Asp892=)
c.2573A= (p.Asp858=)
c.2204A= (p.Asp735=)
5g.112838647A>CCA16028018APCc.2718A>C (n.2718A>C)
c.3107A>C (p.Asp1036Ala)
c.*3059A>C (n.*3059A>C)
c.2999A>C (p.Asp1000Ala)
c.3053A>C (p.Asp1018Ala)
c.1406A>C
c.*2375A>C (n.*2375A>C)
c.230+9675A>C
c.3083A>C (p.Asp1028Ala)
c.2978A>C (p.Asp993Ala)
c.2969A>C (p.Asp990Ala)
c.2930A>C (p.Asp977Ala)
c.2876A>C (p.Asp959Ala)
c.2780A>C (p.Asp927Ala)
c.2750A>C (p.Asp917Ala)
c.2675A>C (p.Asp892Ala)
c.2573A>C (p.Asp858Ala)
c.2204A>C (p.Asp735Ala)
 ClinVar dbSNP
5g.112838647A>GCA16028019APCc.2718A>G (n.2718A>G)
c.3107A>G (p.Asp1036Gly)
c.*3059A>G (n.*3059A>G)
c.2999A>G (p.Asp1000Gly)
c.3053A>G (p.Asp1018Gly)
c.1406A>G
c.*2375A>G (n.*2375A>G)
c.230+9675A>G
c.3083A>G (p.Asp1028Gly)
c.2978A>G (p.Asp993Gly)
c.2969A>G (p.Asp990Gly)
c.2930A>G (p.Asp977Gly)
c.2876A>G (p.Asp959Gly)
c.2780A>G (p.Asp927Gly)
c.2750A>G (p.Asp917Gly)
c.2675A>G (p.Asp892Gly)
c.2573A>G (p.Asp858Gly)
c.2204A>G (p.Asp735Gly)
 ClinVar dbSNP
5g.112838647A>TCA16028020APCc.2718A>T (n.2718A>T)
c.3107A>T (p.Asp1036Val)
c.*3059A>T (n.*3059A>T)
c.2999A>T (p.Asp1000Val)
c.3053A>T (p.Asp1018Val)
c.1406A>T
c.*2375A>T (n.*2375A>T)
c.230+9675A>T
c.3083A>T (p.Asp1028Val)
c.2978A>T (p.Asp993Val)
c.2969A>T (p.Asp990Val)
c.2930A>T (p.Asp977Val)
c.2876A>T (p.Asp959Val)
c.2780A>T (p.Asp927Val)
c.2750A>T (p.Asp917Val)
c.2675A>T (p.Asp892Val)
c.2573A>T (p.Asp858Val)
c.2204A>T (p.Asp735Val)
 dbSNP
5g.112838648_112838657delCA279772APCc.2719_2728del (n.2719_2728del)
c.3108_3117del (p.Asp1036GlufsTer5)
c.*3060_*3069del (n.*3060_*3069del)
c.3000_3009del (p.Asp1000GlufsTer5)
c.3054_3063del (p.Asp1018GlufsTer5)
c.1407_1416del
c.*2376_*2385del (n.*2376_*2385del)
c.230+9676_230+9685del
c.3084_3093del (p.Asp1028GlufsTer5)
c.2979_2988del (p.Asp993GlufsTer5)
c.2970_2979del (p.Asp990GlufsTer5)
c.2931_2940del (p.Asp977GlufsTer5)
c.2877_2886del (p.Asp959GlufsTer5)
c.2781_2790del (p.Asp927GlufsTer5)
c.2751_2760del (p.Asp917GlufsTer5)
c.2676_2685del (p.Asp892GlufsTer5)
c.2574_2583del (p.Asp858GlufsTer5)
c.2205_2214del (p.Asp735GlufsTer5)
 ClinVar dbSNP
5g.112838648T>ACA16028021APCc.2719T>A (n.2719T>A)
c.3108T>A (p.Asp1036Glu)
c.*3060T>A (n.*3060T>A)
c.3000T>A (p.Asp1000Glu)
c.3054T>A (p.Asp1018Glu)
c.1407T>A
c.*2376T>A (n.*2376T>A)
c.230+9676T>A
c.3084T>A (p.Asp1028Glu)
c.2979T>A (p.Asp993Glu)
c.2970T>A (p.Asp990Glu)
c.2931T>A (p.Asp977Glu)
c.2877T>A (p.Asp959Glu)
c.2781T>A (p.Asp927Glu)
c.2751T>A (p.Asp917Glu)
c.2676T>A (p.Asp892Glu)
c.2574T>A (p.Asp858Glu)
c.2205T>A (p.Asp735Glu)
5g.112838648T>CCA445963146APCc.2719T>C (n.2719T>C)
c.3108T>C (p.Asp1036=)
c.*3060T>C (n.*3060T>C)
c.3000T>C (p.Asp1000=)
c.3054T>C (p.Asp1018=)
c.1407T>C
c.*2376T>C (n.*2376T>C)
c.230+9676T>C
c.3084T>C (p.Asp1028=)
c.2979T>C (p.Asp993=)
c.2970T>C (p.Asp990=)
c.2931T>C (p.Asp977=)
c.2877T>C (p.Asp959=)
c.2781T>C (p.Asp927=)
c.2751T>C (p.Asp917=)
c.2676T>C (p.Asp892=)
c.2574T>C (p.Asp858=)
c.2205T>C (p.Asp735=)
5g.112838648T>GCA16028022APCc.2719T>G (n.2719T>G)
c.3108T>G (p.Asp1036Glu)
c.*3060T>G (n.*3060T>G)
c.3000T>G (p.Asp1000Glu)
c.3054T>G (p.Asp1018Glu)
c.1407T>G
c.*2376T>G (n.*2376T>G)
c.230+9676T>G
c.3084T>G (p.Asp1028Glu)
c.2979T>G (p.Asp993Glu)
c.2970T>G (p.Asp990Glu)
c.2931T>G (p.Asp977Glu)
c.2877T>G (p.Asp959Glu)
c.2781T>G (p.Asp927Glu)
c.2751T>G (p.Asp917Glu)
c.2676T>G (p.Asp892Glu)
c.2574T>G (p.Asp858Glu)
c.2205T>G (p.Asp735Glu)
5g.112838649G>ACA16028023APCc.2720G>A (n.2720G>A)
c.3109G>A (p.Gly1037Arg)
c.*3061G>A (n.*3061G>A)
c.3001G>A (p.Gly1001Arg)
c.3055G>A (p.Gly1019Arg)
c.1408G>A
c.*2377G>A (n.*2377G>A)
c.230+9677G>A
c.3085G>A (p.Gly1029Arg)
c.2980G>A (p.Gly994Arg)
c.2971G>A (p.Gly991Arg)
c.2932G>A (p.Gly978Arg)
c.2878G>A (p.Gly960Arg)
c.2782G>A (p.Gly928Arg)
c.2752G>A (p.Gly918Arg)
c.2677G>A (p.Gly893Arg)
c.2575G>A (p.Gly859Arg)
c.2206G>A (p.Gly736Arg)
 ClinVar dbSNP gnomAD v4
5g.112838649G>CCA16028024APCc.2720G>C (n.2720G>C)
c.3109G>C (p.Gly1037Arg)
c.*3061G>C (n.*3061G>C)
c.3001G>C (p.Gly1001Arg)
c.3055G>C (p.Gly1019Arg)
c.1408G>C
c.*2377G>C (n.*2377G>C)
c.230+9677G>C
c.3085G>C (p.Gly1029Arg)
c.2980G>C (p.Gly994Arg)
c.2971G>C (p.Gly991Arg)
c.2932G>C (p.Gly978Arg)
c.2878G>C (p.Gly960Arg)
c.2782G>C (p.Gly928Arg)
c.2752G>C (p.Gly918Arg)
c.2677G>C (p.Gly893Arg)
c.2575G>C (p.Gly859Arg)
c.2206G>C (p.Gly736Arg)
 dbSNP
5g.112838649G=CA1573485717APCc.2720G= (n.2720G=)
c.3109G= (p.Gly1037=)
c.*3061G= (n.*3061G=)
c.3001G= (p.Gly1001=)
c.3055G= (p.Gly1019=)
c.1408G=
c.*2377G= (n.*2377G=)
c.230+9677G=
c.3085G= (p.Gly1029=)
c.2980G= (p.Gly994=)
c.2971G= (p.Gly991=)
c.2932G= (p.Gly978=)
c.2878G= (p.Gly960=)
c.2782G= (p.Gly928=)
c.2752G= (p.Gly918=)
c.2677G= (p.Gly893=)
c.2575G= (p.Gly859=)
c.2206G= (p.Gly736=)
5g.112838649G>TCA16028025APCc.2720G>T (n.2720G>T)
c.3109G>T (p.Gly1037Ter)
c.*3061G>T (n.*3061G>T)
c.3001G>T (p.Gly1001Ter)
c.3055G>T (p.Gly1019Ter)
c.1408G>T
c.*2377G>T (n.*2377G>T)
c.230+9677G>T
c.3085G>T (p.Gly1029Ter)
c.2980G>T (p.Gly994Ter)
c.2971G>T (p.Gly991Ter)
c.2932G>T (p.Gly978Ter)
c.2878G>T (p.Gly960Ter)
c.2782G>T (p.Gly928Ter)
c.2752G>T (p.Gly918Ter)
c.2677G>T (p.Gly893Ter)
c.2575G>T (p.Gly859Ter)
c.2206G>T (p.Gly736Ter)
 ClinVar dbSNP
5g.112838650dupCA658760866APCc.2721dup (n.2721dup)
c.3110dup (p.Glu1038ArgfsTer9)
c.*3062dup (n.*3062dup)
c.3002dup (p.Glu1002ArgfsTer9)
c.3056dup (p.Glu1020ArgfsTer9)
c.1409dup
c.*2378dup (n.*2378dup)
c.230+9678dup
c.3086dup (p.Glu1030ArgfsTer9)
c.2981dup (p.Glu995ArgfsTer9)
c.2972dup (p.Glu992ArgfsTer9)
c.2933dup (p.Glu979ArgfsTer9)
c.2879dup (p.Glu961ArgfsTer9)
c.2783dup (p.Glu929ArgfsTer9)
c.2753dup (p.Glu919ArgfsTer9)
c.2678dup (p.Glu894ArgfsTer9)
c.2576dup (p.Glu860ArgfsTer9)
c.2207dup (p.Glu737ArgfsTer9)
5g.112838650delCA2709989626APCc.2721del (n.2721del)
c.3110del (p.Gly1037GlufsTer3)
c.*3062del (n.*3062del)
c.3002del (p.Gly1001GlufsTer3)
c.3056del (p.Gly1019GlufsTer3)
c.1409del
c.*2378del (n.*2378del)
c.230+9678del
c.3086del (p.Gly1029GlufsTer3)
c.2981del (p.Gly994GlufsTer3)
c.2972del (p.Gly991GlufsTer3)
c.2933del (p.Gly978GlufsTer3)
c.2879del (p.Gly960GlufsTer3)
c.2783del (p.Gly928GlufsTer3)
c.2753del (p.Gly918GlufsTer3)
c.2678del (p.Gly893GlufsTer3)
c.2576del (p.Gly859GlufsTer3)
c.2207del (p.Gly736GlufsTer3)
 dbSNP
5g.112838650G>ACA16028026APCc.2721G>A (n.2721G>A)
c.3110G>A (p.Gly1037Glu)
c.*3062G>A (n.*3062G>A)
c.3002G>A (p.Gly1001Glu)
c.3056G>A (p.Gly1019Glu)
c.1409G>A
c.*2378G>A (n.*2378G>A)
c.230+9678G>A
c.3086G>A (p.Gly1029Glu)
c.2981G>A (p.Gly994Glu)
c.2972G>A (p.Gly991Glu)
c.2933G>A (p.Gly978Glu)
c.2879G>A (p.Gly960Glu)
c.2783G>A (p.Gly928Glu)
c.2753G>A (p.Gly918Glu)
c.2678G>A (p.Gly893Glu)
c.2576G>A (p.Gly859Glu)
c.2207G>A (p.Gly736Glu)
 dbSNP
5g.112838650G>CCA16028027APCc.2721G>C (n.2721G>C)
c.3110G>C (p.Gly1037Ala)
c.*3062G>C (n.*3062G>C)
c.3002G>C (p.Gly1001Ala)
c.3056G>C (p.Gly1019Ala)
c.1409G>C
c.*2378G>C (n.*2378G>C)
c.230+9678G>C
c.3086G>C (p.Gly1029Ala)
c.2981G>C (p.Gly994Ala)
c.2972G>C (p.Gly991Ala)
c.2933G>C (p.Gly978Ala)
c.2879G>C (p.Gly960Ala)
c.2783G>C (p.Gly928Ala)
c.2753G>C (p.Gly918Ala)
c.2678G>C (p.Gly893Ala)
c.2576G>C (p.Gly859Ala)
c.2207G>C (p.Gly736Ala)
 dbSNP COSMIC
5g.112838650G=CA1573485728APCc.2721G= (n.2721G=)
c.3110G= (p.Gly1037=)
c.*3062G= (n.*3062G=)
c.3002G= (p.Gly1001=)
c.3056G= (p.Gly1019=)
c.1409G=
c.*2378G= (n.*2378G=)
c.230+9678G=
c.3086G= (p.Gly1029=)
c.2981G= (p.Gly994=)
c.2972G= (p.Gly991=)
c.2933G= (p.Gly978=)
c.2879G= (p.Gly960=)
c.2783G= (p.Gly928=)
c.2753G= (p.Gly918=)
c.2678G= (p.Gly893=)
c.2576G= (p.Gly859=)
c.2207G= (p.Gly736=)
5g.112838650G>TCA16028028APCc.2721G>T (n.2721G>T)
c.3110G>T (p.Gly1037Val)
c.*3062G>T (n.*3062G>T)
c.3002G>T (p.Gly1001Val)
c.3056G>T (p.Gly1019Val)
c.1409G>T
c.*2378G>T (n.*2378G>T)
c.230+9678G>T
c.3086G>T (p.Gly1029Val)
c.2981G>T (p.Gly994Val)
c.2972G>T (p.Gly991Val)
c.2933G>T (p.Gly978Val)
c.2879G>T (p.Gly960Val)
c.2783G>T (p.Gly928Val)
c.2753G>T (p.Gly918Val)
c.2678G>T (p.Gly893Val)
c.2576G>T (p.Gly859Val)
c.2207G>T (p.Gly736Val)
 ClinVar dbSNP
5g.112838651A>CCA445963147APCc.2722A>C (n.2722A>C)
c.3111A>C (p.Gly1037=)
c.*3063A>C (n.*3063A>C)
c.3003A>C (p.Gly1001=)
c.3057A>C (p.Gly1019=)
c.1410A>C
c.*2379A>C (n.*2379A>C)
c.230+9679A>C
c.3087A>C (p.Gly1029=)
c.2982A>C (p.Gly994=)
c.2973A>C (p.Gly991=)
c.2934A>C (p.Gly978=)
c.2880A>C (p.Gly960=)
c.2784A>C (p.Gly928=)
c.2754A>C (p.Gly918=)
c.2679A>C (p.Gly893=)
c.2577A>C (p.Gly859=)
c.2208A>C (p.Gly736=)
5g.112838651A>GCA445963148APCc.2722A>G (n.2722A>G)
c.3111A>G (p.Gly1037=)
c.*3063A>G (n.*3063A>G)
c.3003A>G (p.Gly1001=)
c.3057A>G (p.Gly1019=)
c.1410A>G
c.*2379A>G (n.*2379A>G)
c.230+9679A>G
c.3087A>G (p.Gly1029=)
c.2982A>G (p.Gly994=)
c.2973A>G (p.Gly991=)
c.2934A>G (p.Gly978=)
c.2880A>G (p.Gly960=)
c.2784A>G (p.Gly928=)
c.2754A>G (p.Gly918=)
c.2679A>G (p.Gly893=)
c.2577A>G (p.Gly859=)
c.2208A>G (p.Gly736=)
 dbSNP
5g.112838651A>TCA445963149APCc.2722A>T (n.2722A>T)
c.3111A>T (p.Gly1037=)
c.*3063A>T (n.*3063A>T)
c.3003A>T (p.Gly1001=)
c.3057A>T (p.Gly1019=)
c.1410A>T
c.*2379A>T (n.*2379A>T)
c.230+9679A>T
c.3087A>T (p.Gly1029=)
c.2982A>T (p.Gly994=)
c.2973A>T (p.Gly991=)
c.2934A>T (p.Gly978=)
c.2880A>T (p.Gly960=)
c.2784A>T (p.Gly928=)
c.2754A>T (p.Gly918=)
c.2679A>T (p.Gly893=)
c.2577A>T (p.Gly859=)
c.2208A>T (p.Gly736=)
 dbSNP
5g.112838652G>ACA16028029APCc.2723G>A (n.2723G>A)
c.3112G>A (p.Glu1038Lys)
c.*3064G>A (n.*3064G>A)
c.3004G>A (p.Glu1002Lys)
c.3058G>A (p.Glu1020Lys)
c.1411G>A
c.*2380G>A (n.*2380G>A)
c.230+9680G>A
c.3088G>A (p.Glu1030Lys)
c.2983G>A (p.Glu995Lys)
c.2974G>A (p.Glu992Lys)
c.2935G>A (p.Glu979Lys)
c.2881G>A (p.Glu961Lys)
c.2785G>A (p.Glu929Lys)
c.2755G>A (p.Glu919Lys)
c.2680G>A (p.Glu894Lys)
c.2578G>A (p.Glu860Lys)
c.2209G>A (p.Glu737Lys)
 ClinVar dbSNP
5g.112838652G>CCA16028030APCc.2723G>C (n.2723G>C)
c.3112G>C (p.Glu1038Gln)
c.*3064G>C (n.*3064G>C)
c.3004G>C (p.Glu1002Gln)
c.3058G>C (p.Glu1020Gln)
c.1411G>C
c.*2380G>C (n.*2380G>C)
c.230+9680G>C
c.3088G>C (p.Glu1030Gln)
c.2983G>C (p.Glu995Gln)
c.2974G>C (p.Glu992Gln)
c.2935G>C (p.Glu979Gln)
c.2881G>C (p.Glu961Gln)
c.2785G>C (p.Glu929Gln)
c.2755G>C (p.Glu919Gln)
c.2680G>C (p.Glu894Gln)
c.2578G>C (p.Glu860Gln)
c.2209G>C (p.Glu737Gln)
 dbSNP
5g.112838652G=CA1573485742APCc.2723G= (n.2723G=)
c.3112G= (p.Glu1038=)
c.*3064G= (n.*3064G=)
c.3004G= (p.Glu1002=)
c.3058G= (p.Glu1020=)
c.1411G=
c.*2380G= (n.*2380G=)
c.230+9680G=
c.3088G= (p.Glu1030=)
c.2983G= (p.Glu995=)
c.2974G= (p.Glu992=)
c.2935G= (p.Glu979=)
c.2881G= (p.Glu961=)
c.2785G= (p.Glu929=)
c.2755G= (p.Glu919=)
c.2680G= (p.Glu894=)
c.2578G= (p.Glu860=)
c.2209G= (p.Glu737=)
5g.112838652G>TCA16028031APCc.2723G>T (n.2723G>T)
c.3112G>T (p.Glu1038Ter)
c.*3064G>T (n.*3064G>T)
c.3004G>T (p.Glu1002Ter)
c.3058G>T (p.Glu1020Ter)
c.1411G>T
c.*2380G>T (n.*2380G>T)
c.230+9680G>T
c.3088G>T (p.Glu1030Ter)
c.2983G>T (p.Glu995Ter)
c.2974G>T (p.Glu992Ter)
c.2935G>T (p.Glu979Ter)
c.2881G>T (p.Glu961Ter)
c.2785G>T (p.Glu929Ter)
c.2755G>T (p.Glu919Ter)
c.2680G>T (p.Glu894Ter)
c.2578G>T (p.Glu860Ter)
c.2209G>T (p.Glu737Ter)
 ClinVar dbSNP COSMIC
5g.112838652_112838653delinsGACA1573485753APCc.2723_2724delinsGA (n.2723_2724delinsGA)
c.3112_3113delinsGA (p.Glu1038=)
c.*3064_*3065delinsGA (n.*3064_*3065delinsGA)
c.3004_3005delinsGA (p.Glu1002=)
c.3058_3059delinsGA (p.Glu1020=)
c.1411_1412delinsGA
c.*2380_*2381delinsGA (n.*2380_*2381delinsGA)
c.230+9680_230+9681delinsGA
c.3088_3089delinsGA (p.Glu1030=)
c.2983_2984delinsGA (p.Glu995=)
c.2974_2975delinsGA (p.Glu992=)
c.2935_2936delinsGA (p.Glu979=)
c.2881_2882delinsGA (p.Glu961=)
c.2785_2786delinsGA (p.Glu929=)
c.2755_2756delinsGA (p.Glu919=)
c.2680_2681delinsGA (p.Glu894=)
c.2578_2579delinsGA (p.Glu860=)
c.2209_2210delinsGA (p.Glu737=)
5g.112838653A=CA1573485759APCc.2724A= (n.2724A=)
c.3113A= (p.Glu1038=)
c.*3065A= (n.*3065A=)
c.3005A= (p.Glu1002=)
c.3059A= (p.Glu1020=)
c.1412A=
c.*2381A= (n.*2381A=)
c.230+9681A=
c.3089A= (p.Glu1030=)
c.2984A= (p.Glu995=)
c.2975A= (p.Glu992=)
c.2936A= (p.Glu979=)
c.2882A= (p.Glu961=)
c.2786A= (p.Glu929=)
c.2756A= (p.Glu919=)
c.2681A= (p.Glu894=)
c.2579A= (p.Glu860=)
c.2210A= (p.Glu737=)
5g.112838653A>CCA16028032APCc.2724A>C (n.2724A>C)
c.3113A>C (p.Glu1038Ala)
c.*3065A>C (n.*3065A>C)
c.3005A>C (p.Glu1002Ala)
c.3059A>C (p.Glu1020Ala)
c.1412A>C
c.*2381A>C (n.*2381A>C)
c.230+9681A>C
c.3089A>C (p.Glu1030Ala)
c.2984A>C (p.Glu995Ala)
c.2975A>C (p.Glu992Ala)
c.2936A>C (p.Glu979Ala)
c.2882A>C (p.Glu961Ala)
c.2786A>C (p.Glu929Ala)
c.2756A>C (p.Glu919Ala)
c.2681A>C (p.Glu894Ala)
c.2579A>C (p.Glu860Ala)
c.2210A>C (p.Glu737Ala)
 ClinVar dbSNP gnomAD v4
5g.112838653A>GCA16028033APCc.2724A>G (n.2724A>G)
c.3113A>G (p.Glu1038Gly)
c.*3065A>G (n.*3065A>G)
c.3005A>G (p.Glu1002Gly)
c.3059A>G (p.Glu1020Gly)
c.1412A>G
c.*2381A>G (n.*2381A>G)
c.230+9681A>G
c.3089A>G (p.Glu1030Gly)
c.2984A>G (p.Glu995Gly)
c.2975A>G (p.Glu992Gly)
c.2936A>G (p.Glu979Gly)
c.2882A>G (p.Glu961Gly)
c.2786A>G (p.Glu929Gly)
c.2756A>G (p.Glu919Gly)
c.2681A>G (p.Glu894Gly)
c.2579A>G (p.Glu860Gly)
c.2210A>G (p.Glu737Gly)
5g.112838653A>TCA16028034APCc.2724A>T (n.2724A>T)
c.3113A>T (p.Glu1038Val)
c.*3065A>T (n.*3065A>T)
c.3005A>T (p.Glu1002Val)
c.3059A>T (p.Glu1020Val)
c.1412A>T
c.*2381A>T (n.*2381A>T)
c.230+9681A>T
c.3089A>T (p.Glu1030Val)
c.2984A>T (p.Glu995Val)
c.2975A>T (p.Glu992Val)
c.2936A>T (p.Glu979Val)
c.2882A>T (p.Glu961Val)
c.2786A>T (p.Glu929Val)
c.2756A>T (p.Glu919Val)
c.2681A>T (p.Glu894Val)
c.2579A>T (p.Glu860Val)
c.2210A>T (p.Glu737Val)
 ClinVar dbSNP
5g.112838654delCA915943477APCc.2725del (n.2725del)
c.3114del (p.Glu1038AspfsTer2)
c.*3066del (n.*3066del)
c.3006del (p.Glu1002AspfsTer2)
c.3060del (p.Glu1020AspfsTer2)
c.1413del
c.*2382del (n.*2382del)
c.230+9682del
c.3090del (p.Glu1030AspfsTer2)
c.2985del (p.Glu995AspfsTer2)
c.2976del (p.Glu992AspfsTer2)
c.2937del (p.Glu979AspfsTer2)
c.2883del (p.Glu961AspfsTer2)
c.2787del (p.Glu929AspfsTer2)
c.2757del (p.Glu919AspfsTer2)
c.2682del (p.Glu894AspfsTer2)
c.2580del (p.Glu860AspfsTer2)
c.2211del (p.Glu737AspfsTer2)
 ClinVar dbSNP
5g.112838653_112838656delinsAACTCA1573485762APCc.2724_2727delinsAACT (n.2724_2727delinsAACT)
c.3113_3116delinsAACT (p.Glu1038=)
c.*3065_*3068delinsAACT (n.*3065_*3068delinsAACT)
c.3005_3008delinsAACT (p.Glu1002=)
c.3059_3062delinsAACT (p.Glu1020=)
c.1412_1415delinsAACT
c.*2381_*2384delinsAACT (n.*2381_*2384delinsAACT)
c.230+9681_230+9684delinsAACT
c.3089_3092delinsAACT (p.Glu1030=)
c.2984_2987delinsAACT (p.Glu995=)
c.2975_2978delinsAACT (p.Glu992=)
c.2936_2939delinsAACT (p.Glu979=)
c.2882_2885delinsAACT (p.Glu961=)
c.2786_2789delinsAACT (p.Glu929=)
c.2756_2759delinsAACT (p.Glu919=)
c.2681_2684delinsAACT (p.Glu894=)
c.2579_2582delinsAACT (p.Glu860=)
c.2210_2213delinsAACT (p.Glu737=)
5g.112838654A=CA1573485772APCc.2725A= (n.2725A=)
c.3114A= (p.Glu1038=)
c.*3066A= (n.*3066A=)
c.3006A= (p.Glu1002=)
c.3060A= (p.Glu1020=)
c.1413A=
c.*2382A= (n.*2382A=)
c.230+9682A=
c.3090A= (p.Glu1030=)
c.2985A= (p.Glu995=)
c.2976A= (p.Glu992=)
c.2937A= (p.Glu979=)
c.2883A= (p.Glu961=)
c.2787A= (p.Glu929=)
c.2757A= (p.Glu919=)
c.2682A= (p.Glu894=)
c.2580A= (p.Glu860=)
c.2211A= (p.Glu737=)
5g.112838654A>CCA16028035APCc.2725A>C (n.2725A>C)
c.3114A>C (p.Glu1038Asp)
c.*3066A>C (n.*3066A>C)
c.3006A>C (p.Glu1002Asp)
c.3060A>C (p.Glu1020Asp)
c.1413A>C
c.*2382A>C (n.*2382A>C)
c.230+9682A>C
c.3090A>C (p.Glu1030Asp)
c.2985A>C (p.Glu995Asp)
c.2976A>C (p.Glu992Asp)
c.2937A>C (p.Glu979Asp)
c.2883A>C (p.Glu961Asp)
c.2787A>C (p.Glu929Asp)
c.2757A>C (p.Glu919Asp)
c.2682A>C (p.Glu894Asp)
c.2580A>C (p.Glu860Asp)
c.2211A>C (p.Glu737Asp)
 dbSNP
5g.112838654A>GCA16605157APCc.2725A>G (n.2725A>G)
c.3114A>G (p.Glu1038=)
c.*3066A>G (n.*3066A>G)
c.3006A>G (p.Glu1002=)
c.3060A>G (p.Glu1020=)
c.1413A>G
c.*2382A>G (n.*2382A>G)
c.230+9682A>G
c.3090A>G (p.Glu1030=)
c.2985A>G (p.Glu995=)
c.2976A>G (p.Glu992=)
c.2937A>G (p.Glu979=)
c.2883A>G (p.Glu961=)
c.2787A>G (p.Glu929=)
c.2757A>G (p.Glu919=)
c.2682A>G (p.Glu894=)
c.2580A>G (p.Glu860=)
c.2211A>G (p.Glu737=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838654A>TCA16028036APCc.2725A>T (n.2725A>T)
c.3114A>T (p.Glu1038Asp)
c.*3066A>T (n.*3066A>T)
c.3006A>T (p.Glu1002Asp)
c.3060A>T (p.Glu1020Asp)
c.1413A>T
c.*2382A>T (n.*2382A>T)
c.230+9682A>T
c.3090A>T (p.Glu1030Asp)
c.2985A>T (p.Glu995Asp)
c.2976A>T (p.Glu992Asp)
c.2937A>T (p.Glu979Asp)
c.2883A>T (p.Glu961Asp)
c.2787A>T (p.Glu929Asp)
c.2757A>T (p.Glu919Asp)
c.2682A>T (p.Glu894Asp)
c.2580A>T (p.Glu860Asp)
c.2211A>T (p.Glu737Asp)
 ClinVar dbSNP
5g.112838654_112838656delinsTAATTGGCA915943478APCc.2725_2727delinsTAATTGG (n.2725_2727delinsTAATTGG)
c.3114_3116delinsTAATTGG (p.Glu1038AspfsTer10)
c.*3066_*3068delinsTAATTGG (n.*3066_*3068delinsTAATTGG)
c.3006_3008delinsTAATTGG (p.Glu1002AspfsTer10)
c.3060_3062delinsTAATTGG (p.Glu1020AspfsTer10)
c.1413_1415delinsTAATTGG
c.*2382_*2384delinsTAATTGG (n.*2382_*2384delinsTAATTGG)
c.230+9682_230+9684delinsTAATTGG
c.3090_3092delinsTAATTGG (p.Glu1030AspfsTer10)
c.2985_2987delinsTAATTGG (p.Glu995AspfsTer10)
c.2976_2978delinsTAATTGG (p.Glu992AspfsTer10)
c.2937_2939delinsTAATTGG (p.Glu979AspfsTer10)
c.2883_2885delinsTAATTGG (p.Glu961AspfsTer10)
c.2787_2789delinsTAATTGG (p.Glu929AspfsTer10)
c.2757_2759delinsTAATTGG (p.Glu919AspfsTer10)
c.2682_2684delinsTAATTGG (p.Glu894AspfsTer10)
c.2580_2582delinsTAATTGG (p.Glu860AspfsTer10)
c.2211_2213delinsTAATTGG (p.Glu737AspfsTer10)
 ClinVar dbSNP
5g.112838656_112838662delCA2582341481APCc.2727_2733del (n.2727_2733del)
c.3116_3122del (p.Leu1039HisfsTer3)
c.*3068_*3074del (n.*3068_*3074del)
c.3008_3014del (p.Leu1003HisfsTer3)
c.3062_3068del (p.Leu1021HisfsTer3)
c.1415_1421del
c.*2384_*2390del (n.*2384_*2390del)
c.230+9684_230+9690del
c.3092_3098del (p.Leu1031HisfsTer3)
c.2987_2993del (p.Leu996HisfsTer3)
c.2978_2984del (p.Leu993HisfsTer3)
c.2939_2945del (p.Leu980HisfsTer3)
c.2885_2891del (p.Leu962HisfsTer3)
c.2789_2795del (p.Leu930HisfsTer3)
c.2759_2765del (p.Leu920HisfsTer3)
c.2684_2690del (p.Leu895HisfsTer3)
c.2582_2588del (p.Leu861HisfsTer3)
c.2213_2219del (p.Leu738HisfsTer3)
 ClinVar
5g.112838655C>ACA16028037APCc.2726C>A (n.2726C>A)
c.3115C>A (p.Leu1039Ile)
c.*3067C>A (n.*3067C>A)
c.3007C>A (p.Leu1003Ile)
c.3061C>A (p.Leu1021Ile)
c.1414C>A
c.*2383C>A (n.*2383C>A)
c.230+9683C>A
c.3091C>A (p.Leu1031Ile)
c.2986C>A (p.Leu996Ile)
c.2977C>A (p.Leu993Ile)
c.2938C>A (p.Leu980Ile)
c.2884C>A (p.Leu962Ile)
c.2788C>A (p.Leu930Ile)
c.2758C>A (p.Leu920Ile)
c.2683C>A (p.Leu895Ile)
c.2581C>A (p.Leu861Ile)
c.2212C>A (p.Leu738Ile)
 ClinVar dbSNP
5g.112838655C=CA1573485781APCc.2726C= (n.2726C=)
c.3115C= (p.Leu1039=)
c.*3067C= (n.*3067C=)
c.3007C= (p.Leu1003=)
c.3061C= (p.Leu1021=)
c.1414C=
c.*2383C= (n.*2383C=)
c.230+9683C=
c.3091C= (p.Leu1031=)
c.2986C= (p.Leu996=)
c.2977C= (p.Leu993=)
c.2938C= (p.Leu980=)
c.2884C= (p.Leu962=)
c.2788C= (p.Leu930=)
c.2758C= (p.Leu920=)
c.2683C= (p.Leu895=)
c.2581C= (p.Leu861=)
c.2212C= (p.Leu738=)
5g.112838655C>GCA16028038APCc.2726C>G (n.2726C>G)
c.3115C>G (p.Leu1039Val)
c.*3067C>G (n.*3067C>G)
c.3007C>G (p.Leu1003Val)
c.3061C>G (p.Leu1021Val)
c.1414C>G
c.*2383C>G (n.*2383C>G)
c.230+9683C>G
c.3091C>G (p.Leu1031Val)
c.2986C>G (p.Leu996Val)
c.2977C>G (p.Leu993Val)
c.2938C>G (p.Leu980Val)
c.2884C>G (p.Leu962Val)
c.2788C>G (p.Leu930Val)
c.2758C>G (p.Leu920Val)
c.2683C>G (p.Leu895Val)
c.2581C>G (p.Leu861Val)
c.2212C>G (p.Leu738Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838655C>TCA445963150APCc.2726C>T (n.2726C>T)
c.3115C>T (p.Leu1039=)
c.*3067C>T (n.*3067C>T)
c.3007C>T (p.Leu1003=)
c.3061C>T (p.Leu1021=)
c.1414C>T
c.*2383C>T (n.*2383C>T)
c.230+9683C>T
c.3091C>T (p.Leu1031=)
c.2986C>T (p.Leu996=)
c.2977C>T (p.Leu993=)
c.2938C>T (p.Leu980=)
c.2884C>T (p.Leu962=)
c.2788C>T (p.Leu930=)
c.2758C>T (p.Leu920=)
c.2683C>T (p.Leu895=)
c.2581C>T (p.Leu861=)
c.2212C>T (p.Leu738=)
 ClinVar dbSNP
5g.112838656T>ACA16028039APCc.2727T>A (n.2727T>A)
c.3116T>A (p.Leu1039Gln)
c.*3068T>A (n.*3068T>A)
c.3008T>A (p.Leu1003Gln)
c.3062T>A (p.Leu1021Gln)
c.1415T>A
c.*2384T>A (n.*2384T>A)
c.230+9684T>A
c.3092T>A (p.Leu1031Gln)
c.2987T>A (p.Leu996Gln)
c.2978T>A (p.Leu993Gln)
c.2939T>A (p.Leu980Gln)
c.2885T>A (p.Leu962Gln)
c.2789T>A (p.Leu930Gln)
c.2759T>A (p.Leu920Gln)
c.2684T>A (p.Leu895Gln)
c.2582T>A (p.Leu861Gln)
c.2213T>A (p.Leu738Gln)
 dbSNP
5g.112838656T>CCA16028040APCc.2727T>C (n.2727T>C)
c.3116T>C (p.Leu1039Pro)
c.*3068T>C (n.*3068T>C)
c.3008T>C (p.Leu1003Pro)
c.3062T>C (p.Leu1021Pro)
c.1415T>C
c.*2384T>C (n.*2384T>C)
c.230+9684T>C
c.3092T>C (p.Leu1031Pro)
c.2987T>C (p.Leu996Pro)
c.2978T>C (p.Leu993Pro)
c.2939T>C (p.Leu980Pro)
c.2885T>C (p.Leu962Pro)
c.2789T>C (p.Leu930Pro)
c.2759T>C (p.Leu920Pro)
c.2684T>C (p.Leu895Pro)
c.2582T>C (p.Leu861Pro)
c.2213T>C (p.Leu738Pro)
 dbSNP gnomAD v4
5g.112838656T>GCA16028041APCc.2727T>G (n.2727T>G)
c.3116T>G (p.Leu1039Arg)
c.*3068T>G (n.*3068T>G)
c.3008T>G (p.Leu1003Arg)
c.3062T>G (p.Leu1021Arg)
c.1415T>G
c.*2384T>G (n.*2384T>G)
c.230+9684T>G
c.3092T>G (p.Leu1031Arg)
c.2987T>G (p.Leu996Arg)
c.2978T>G (p.Leu993Arg)
c.2939T>G (p.Leu980Arg)
c.2885T>G (p.Leu962Arg)
c.2789T>G (p.Leu930Arg)
c.2759T>G (p.Leu920Arg)
c.2684T>G (p.Leu895Arg)
c.2582T>G (p.Leu861Arg)
c.2213T>G (p.Leu738Arg)
 ClinVar dbSNP
5g.112838656T=CA1573485796APCc.2727T= (n.2727T=)
c.3116T= (p.Leu1039=)
c.*3068T= (n.*3068T=)
c.3008T= (p.Leu1003=)
c.3062T= (p.Leu1021=)
c.1415T=
c.*2384T= (n.*2384T=)
c.230+9684T=
c.3092T= (p.Leu1031=)
c.2987T= (p.Leu996=)
c.2978T= (p.Leu993=)
c.2939T= (p.Leu980=)
c.2885T= (p.Leu962=)
c.2789T= (p.Leu930=)
c.2759T= (p.Leu920=)
c.2684T= (p.Leu895=)
c.2582T= (p.Leu861=)
c.2213T= (p.Leu738=)
5g.112838657A=CA1573485799APCc.2728A= (n.2728A=)
c.3117A= (p.Leu1039=)
c.*3069A= (n.*3069A=)
c.3009A= (p.Leu1003=)
c.3063A= (p.Leu1021=)
c.1416A=
c.*2385A= (n.*2385A=)
c.230+9685A=
c.3093A= (p.Leu1031=)
c.2988A= (p.Leu996=)
c.2979A= (p.Leu993=)
c.2940A= (p.Leu980=)
c.2886A= (p.Leu962=)
c.2790A= (p.Leu930=)
c.2760A= (p.Leu920=)
c.2685A= (p.Leu895=)
c.2583A= (p.Leu861=)
c.2214A= (p.Leu738=)
5g.112838657A>CCA445963151APCc.2728A>C (n.2728A>C)
c.3117A>C (p.Leu1039=)
c.*3069A>C (n.*3069A>C)
c.3009A>C (p.Leu1003=)
c.3063A>C (p.Leu1021=)
c.1416A>C
c.*2385A>C (n.*2385A>C)
c.230+9685A>C
c.3093A>C (p.Leu1031=)
c.2988A>C (p.Leu996=)
c.2979A>C (p.Leu993=)
c.2940A>C (p.Leu980=)
c.2886A>C (p.Leu962=)
c.2790A>C (p.Leu930=)
c.2760A>C (p.Leu920=)
c.2685A>C (p.Leu895=)
c.2583A>C (p.Leu861=)
c.2214A>C (p.Leu738=)
5g.112838657A>GCA445963152APCc.2728A>G (n.2728A>G)
c.3117A>G (p.Leu1039=)
c.*3069A>G (n.*3069A>G)
c.3009A>G (p.Leu1003=)
c.3063A>G (p.Leu1021=)
c.1416A>G
c.*2385A>G (n.*2385A>G)
c.230+9685A>G
c.3093A>G (p.Leu1031=)
c.2988A>G (p.Leu996=)
c.2979A>G (p.Leu993=)
c.2940A>G (p.Leu980=)
c.2886A>G (p.Leu962=)
c.2790A>G (p.Leu930=)
c.2760A>G (p.Leu920=)
c.2685A>G (p.Leu895=)
c.2583A>G (p.Leu861=)
c.2214A>G (p.Leu738=)
 ClinVar dbSNP gnomAD v4
5g.112838657A>TCA445963153APCc.2728A>T (n.2728A>T)
c.3117A>T (p.Leu1039=)
c.*3069A>T (n.*3069A>T)
c.3009A>T (p.Leu1003=)
c.3063A>T (p.Leu1021=)
c.1416A>T
c.*2385A>T (n.*2385A>T)
c.230+9685A>T
c.3093A>T (p.Leu1031=)
c.2988A>T (p.Leu996=)
c.2979A>T (p.Leu993=)
c.2940A>T (p.Leu980=)
c.2886A>T (p.Leu962=)
c.2790A>T (p.Leu930=)
c.2760A>T (p.Leu920=)
c.2685A>T (p.Leu895=)
c.2583A>T (p.Leu861=)
c.2214A>T (p.Leu738=)
 dbSNP
5g.112838657dupCA2695204884APCc.2728dup (n.2728dup)
c.3117dup (p.Asp1040ArgfsTer7)
c.*3069dup (n.*3069dup)
c.3009dup (p.Asp1004ArgfsTer7)
c.3063dup (p.Asp1022ArgfsTer7)
c.1416dup
c.*2385dup (n.*2385dup)
c.230+9685dup
c.3093dup (p.Asp1032ArgfsTer7)
c.2988dup (p.Asp997ArgfsTer7)
c.2979dup (p.Asp994ArgfsTer7)
c.2940dup (p.Asp981ArgfsTer7)
c.2886dup (p.Asp963ArgfsTer7)
c.2790dup (p.Asp931ArgfsTer7)
c.2760dup (p.Asp921ArgfsTer7)
c.2685dup (p.Asp896ArgfsTer7)
c.2583dup (p.Asp862ArgfsTer7)
c.2214dup (p.Asp739ArgfsTer7)
5g.112838657_112838658insTCATTTCA1573485802APCc.2728_2729insTCATTT (n.2728_2729insTCATTT)
c.3117_3118insTCATTT (p.Leu1039_Asp1040insSerPhe)
c.*3069_*3070insTCATTT (n.*3069_*3070insTCATTT)
c.3009_3010insTCATTT (p.Leu1003_Asp1004insSerPhe)
c.3063_3064insTCATTT (p.Leu1021_Asp1022insSerPhe)
c.1416_1417insTCATTT
c.*2385_*2386insTCATTT (n.*2385_*2386insTCATTT)
c.230+9685_230+9686insTCATTT
c.3093_3094insTCATTT (p.Leu1031_Asp1032insSerPhe)
c.2988_2989insTCATTT (p.Leu996_Asp997insSerPhe)
c.2979_2980insTCATTT (p.Leu993_Asp994insSerPhe)
c.2940_2941insTCATTT (p.Leu980_Asp981insSerPhe)
c.2886_2887insTCATTT (p.Leu962_Asp963insSerPhe)
c.2790_2791insTCATTT (p.Leu930_Asp931insSerPhe)
c.2760_2761insTCATTT (p.Leu920_Asp921insSerPhe)
c.2685_2686insTCATTT (p.Leu895_Asp896insSerPhe)
c.2583_2584insTCATTT (p.Leu861_Asp862insSerPhe)
c.2214_2215insTCATTT (p.Leu738_Asp739insSerPhe)
 dbSNP
5g.112838658G>ACA16028042APCc.2729G>A (n.2729G>A)
c.3118G>A (p.Asp1040Asn)
c.*3070G>A (n.*3070G>A)
c.3010G>A (p.Asp1004Asn)
c.3064G>A (p.Asp1022Asn)
c.1417G>A
c.*2386G>A (n.*2386G>A)
c.230+9686G>A
c.3094G>A (p.Asp1032Asn)
c.2989G>A (p.Asp997Asn)
c.2980G>A (p.Asp994Asn)
c.2941G>A (p.Asp981Asn)
c.2887G>A (p.Asp963Asn)
c.2791G>A (p.Asp931Asn)
c.2761G>A (p.Asp921Asn)
c.2686G>A (p.Asp896Asn)
c.2584G>A (p.Asp862Asn)
c.2215G>A (p.Asp739Asn)
 dbSNP
5g.112838658G>CCA16028043APCc.2729G>C (n.2729G>C)
c.3118G>C (p.Asp1040His)
c.*3070G>C (n.*3070G>C)
c.3010G>C (p.Asp1004His)
c.3064G>C (p.Asp1022His)
c.1417G>C
c.*2386G>C (n.*2386G>C)
c.230+9686G>C
c.3094G>C (p.Asp1032His)
c.2989G>C (p.Asp997His)
c.2980G>C (p.Asp994His)
c.2941G>C (p.Asp981His)
c.2887G>C (p.Asp963His)
c.2791G>C (p.Asp931His)
c.2761G>C (p.Asp921His)
c.2686G>C (p.Asp896His)
c.2584G>C (p.Asp862His)
c.2215G>C (p.Asp739His)
 dbSNP COSMIC
5g.112838658G=CA1573485805APCc.2729G= (n.2729G=)
c.3118G= (p.Asp1040=)
c.*3070G= (n.*3070G=)
c.3010G= (p.Asp1004=)
c.3064G= (p.Asp1022=)
c.1417G=
c.*2386G= (n.*2386G=)
c.230+9686G=
c.3094G= (p.Asp1032=)
c.2989G= (p.Asp997=)
c.2980G= (p.Asp994=)
c.2941G= (p.Asp981=)
c.2887G= (p.Asp963=)
c.2791G= (p.Asp931=)
c.2761G= (p.Asp921=)
c.2686G= (p.Asp896=)
c.2584G= (p.Asp862=)
c.2215G= (p.Asp739=)
5g.112838658G>TCA16028044APCc.2729G>T (n.2729G>T)
c.3118G>T (p.Asp1040Tyr)
c.*3070G>T (n.*3070G>T)
c.3010G>T (p.Asp1004Tyr)
c.3064G>T (p.Asp1022Tyr)
c.1417G>T
c.*2386G>T (n.*2386G>T)
c.230+9686G>T
c.3094G>T (p.Asp1032Tyr)
c.2989G>T (p.Asp997Tyr)
c.2980G>T (p.Asp994Tyr)
c.2941G>T (p.Asp981Tyr)
c.2887G>T (p.Asp963Tyr)
c.2791G>T (p.Asp931Tyr)
c.2761G>T (p.Asp921Tyr)
c.2686G>T (p.Asp896Tyr)
c.2584G>T (p.Asp862Tyr)
c.2215G>T (p.Asp739Tyr)
 dbSNP
5g.112838659A=CA1573485812APCc.2730A= (n.2730A=)
c.3119A= (p.Asp1040=)
c.*3071A= (n.*3071A=)
c.3011A= (p.Asp1004=)
c.3065A= (p.Asp1022=)
c.1418A=
c.*2387A= (n.*2387A=)
c.230+9687A=
c.3095A= (p.Asp1032=)
c.2990A= (p.Asp997=)
c.2981A= (p.Asp994=)
c.2942A= (p.Asp981=)
c.2888A= (p.Asp963=)
c.2792A= (p.Asp931=)
c.2762A= (p.Asp921=)
c.2687A= (p.Asp896=)
c.2585A= (p.Asp862=)
c.2216A= (p.Asp739=)
5g.112838659A>CCA16028045APCc.2730A>C (n.2730A>C)
c.3119A>C (p.Asp1040Ala)
c.*3071A>C (n.*3071A>C)
c.3011A>C (p.Asp1004Ala)
c.3065A>C (p.Asp1022Ala)
c.1418A>C
c.*2387A>C (n.*2387A>C)
c.230+9687A>C
c.3095A>C (p.Asp1032Ala)
c.2990A>C (p.Asp997Ala)
c.2981A>C (p.Asp994Ala)
c.2942A>C (p.Asp981Ala)
c.2888A>C (p.Asp963Ala)
c.2792A>C (p.Asp931Ala)
c.2762A>C (p.Asp921Ala)
c.2687A>C (p.Asp896Ala)
c.2585A>C (p.Asp862Ala)
c.2216A>C (p.Asp739Ala)
 dbSNP
5g.112838659A>GCA16028046APCc.2730A>G (n.2730A>G)
c.3119A>G (p.Asp1040Gly)
c.*3071A>G (n.*3071A>G)
c.3011A>G (p.Asp1004Gly)
c.3065A>G (p.Asp1022Gly)
c.1418A>G
c.*2387A>G (n.*2387A>G)
c.230+9687A>G
c.3095A>G (p.Asp1032Gly)
c.2990A>G (p.Asp997Gly)
c.2981A>G (p.Asp994Gly)
c.2942A>G (p.Asp981Gly)
c.2888A>G (p.Asp963Gly)
c.2792A>G (p.Asp931Gly)
c.2762A>G (p.Asp921Gly)
c.2687A>G (p.Asp896Gly)
c.2585A>G (p.Asp862Gly)
c.2216A>G (p.Asp739Gly)
 ClinVar dbSNP gnomAD v4
5g.112838659A>TCA16028047APCc.2730A>T (n.2730A>T)
c.3119A>T (p.Asp1040Val)
c.*3071A>T (n.*3071A>T)
c.3011A>T (p.Asp1004Val)
c.3065A>T (p.Asp1022Val)
c.1418A>T
c.*2387A>T (n.*2387A>T)
c.230+9687A>T
c.3095A>T (p.Asp1032Val)
c.2990A>T (p.Asp997Val)
c.2981A>T (p.Asp994Val)
c.2942A>T (p.Asp981Val)
c.2888A>T (p.Asp963Val)
c.2792A>T (p.Asp931Val)
c.2762A>T (p.Asp921Val)
c.2687A>T (p.Asp896Val)
c.2585A>T (p.Asp862Val)
c.2216A>T (p.Asp739Val)
 dbSNP
5g.112838659_112838660insAGATCTCTTGTATTCTAACA1573485811APCc.2730_2731insAGATCTCTTGTATTCTAA (n.2730_2731insAGATCTCTTGTATTCTAA)
c.3119_3120insAGATCTCTTGTATTCTAA (p.Asp1040delinsGluAspLeuLeuTyrSerAsn)
c.*3071_*3072insAGATCTCTTGTATTCTAA (n.*3071_*3072insAGATCTCTTGTATTCTAA)
c.3011_3012insAGATCTCTTGTATTCTAA (p.Asp1004delinsGluAspLeuLeuTyrSerAsn)
c.3065_3066insAGATCTCTTGTATTCTAA (p.Asp1022delinsGluAspLeuLeuTyrSerAsn)
c.1418_1419insAGATCTCTTGTATTCTAA
c.*2387_*2388insAGATCTCTTGTATTCTAA (n.*2387_*2388insAGATCTCTTGTATTCTAA)
c.230+9687_230+9688insAGATCTCTTGTATTCTAA
c.3095_3096insAGATCTCTTGTATTCTAA (p.Asp1032delinsGluAspLeuLeuTyrSerAsn)
c.2990_2991insAGATCTCTTGTATTCTAA (p.Asp997delinsGluAspLeuLeuTyrSerAsn)
c.2981_2982insAGATCTCTTGTATTCTAA (p.Asp994delinsGluAspLeuLeuTyrSerAsn)
c.2942_2943insAGATCTCTTGTATTCTAA (p.Asp981delinsGluAspLeuLeuTyrSerAsn)
c.2888_2889insAGATCTCTTGTATTCTAA (p.Asp963delinsGluAspLeuLeuTyrSerAsn)
c.2792_2793insAGATCTCTTGTATTCTAA (p.Asp931delinsGluAspLeuLeuTyrSerAsn)
c.2762_2763insAGATCTCTTGTATTCTAA (p.Asp921delinsGluAspLeuLeuTyrSerAsn)
c.2687_2688insAGATCTCTTGTATTCTAA (p.Asp896delinsGluAspLeuLeuTyrSerAsn)
c.2585_2586insAGATCTCTTGTATTCTAA (p.Asp862delinsGluAspLeuLeuTyrSerAsn)
c.2216_2217insAGATCTCTTGTATTCTAA (p.Asp739delinsGluAspLeuLeuTyrSerAsn)
 dbSNP
5g.112838660T>ACA16028048APCc.2731T>A (n.2731T>A)
c.3120T>A (p.Asp1040Glu)
c.*3072T>A (n.*3072T>A)
c.3012T>A (p.Asp1004Glu)
c.3066T>A (p.Asp1022Glu)
c.1419T>A
c.*2388T>A (n.*2388T>A)
c.230+9688T>A
c.3096T>A (p.Asp1032Glu)
c.2991T>A (p.Asp997Glu)
c.2982T>A (p.Asp994Glu)
c.2943T>A (p.Asp981Glu)
c.2889T>A (p.Asp963Glu)
c.2793T>A (p.Asp931Glu)
c.2763T>A (p.Asp921Glu)
c.2688T>A (p.Asp896Glu)
c.2586T>A (p.Asp862Glu)
c.2217T>A (p.Asp739Glu)
 dbSNP
5g.112838660T>CCA445963154APCc.2731T>C (n.2731T>C)
c.3120T>C (p.Asp1040=)
c.*3072T>C (n.*3072T>C)
c.3012T>C (p.Asp1004=)
c.3066T>C (p.Asp1022=)
c.1419T>C
c.*2388T>C (n.*2388T>C)
c.230+9688T>C
c.3096T>C (p.Asp1032=)
c.2991T>C (p.Asp997=)
c.2982T>C (p.Asp994=)
c.2943T>C (p.Asp981=)
c.2889T>C (p.Asp963=)
c.2793T>C (p.Asp931=)
c.2763T>C (p.Asp921=)
c.2688T>C (p.Asp896=)
c.2586T>C (p.Asp862=)
c.2217T>C (p.Asp739=)
5g.112838660T>GCA16028049APCc.2731T>G (n.2731T>G)
c.3120T>G (p.Asp1040Glu)
c.*3072T>G (n.*3072T>G)
c.3012T>G (p.Asp1004Glu)
c.3066T>G (p.Asp1022Glu)
c.1419T>G
c.*2388T>G (n.*2388T>G)
c.230+9688T>G
c.3096T>G (p.Asp1032Glu)
c.2991T>G (p.Asp997Glu)
c.2982T>G (p.Asp994Glu)
c.2943T>G (p.Asp981Glu)
c.2889T>G (p.Asp963Glu)
c.2793T>G (p.Asp931Glu)
c.2763T>G (p.Asp921Glu)
c.2688T>G (p.Asp896Glu)
c.2586T>G (p.Asp862Glu)
c.2217T>G (p.Asp739Glu)
 dbSNP
5g.112838660T=CA1573485817APCc.2731T= (n.2731T=)
c.3120T= (p.Asp1040=)
c.*3072T= (n.*3072T=)
c.3012T= (p.Asp1004=)
c.3066T= (p.Asp1022=)
c.1419T=
c.*2388T= (n.*2388T=)
c.230+9688T=
c.3096T= (p.Asp1032=)
c.2991T= (p.Asp997=)
c.2982T= (p.Asp994=)
c.2943T= (p.Asp981=)
c.2889T= (p.Asp963=)
c.2793T= (p.Asp931=)
c.2763T= (p.Asp921=)
c.2688T= (p.Asp896=)
c.2586T= (p.Asp862=)
c.2217T= (p.Asp739=)
5g.112838660_112838661insGACA2695204885APCc.2731_2732insGA (n.2731_2732insGA)
c.3120_3121insGA (p.Thr1041GlufsTer4)
c.*3072_*3073insGA (n.*3072_*3073insGA)
c.3012_3013insGA (p.Thr1005GlufsTer4)
c.3066_3067insGA (p.Thr1023GlufsTer4)
c.1419_1420insGA
c.*2388_*2389insGA (n.*2388_*2389insGA)
c.230+9688_230+9689insGA
c.3096_3097insGA (p.Thr1033GlufsTer4)
c.2991_2992insGA (p.Thr998GlufsTer4)
c.2982_2983insGA (p.Thr995GlufsTer4)
c.2943_2944insGA (p.Thr982GlufsTer4)
c.2889_2890insGA (p.Thr964GlufsTer4)
c.2793_2794insGA (p.Thr932GlufsTer4)
c.2763_2764insGA (p.Thr922GlufsTer4)
c.2688_2689insGA (p.Thr897GlufsTer4)
c.2586_2587insGA (p.Thr863GlufsTer4)
c.2217_2218insGA (p.Thr740GlufsTer4)
5g.112838661A>CCA16028050APCc.2732A>C (n.2732A>C)
c.3121A>C (p.Thr1041Pro)
c.*3073A>C (n.*3073A>C)
c.3013A>C (p.Thr1005Pro)
c.3067A>C (p.Thr1023Pro)
c.1420A>C
c.*2389A>C (n.*2389A>C)
c.230+9689A>C
c.3097A>C (p.Thr1033Pro)
c.2992A>C (p.Thr998Pro)
c.2983A>C (p.Thr995Pro)
c.2944A>C (p.Thr982Pro)
c.2890A>C (p.Thr964Pro)
c.2794A>C (p.Thr932Pro)
c.2764A>C (p.Thr922Pro)
c.2689A>C (p.Thr897Pro)
c.2587A>C (p.Thr863Pro)
c.2218A>C (p.Thr740Pro)
 dbSNP
5g.112838661A>GCA16028051APCc.2732A>G (n.2732A>G)
c.3121A>G (p.Thr1041Ala)
c.*3073A>G (n.*3073A>G)
c.3013A>G (p.Thr1005Ala)
c.3067A>G (p.Thr1023Ala)
c.1420A>G
c.*2389A>G (n.*2389A>G)
c.230+9689A>G
c.3097A>G (p.Thr1033Ala)
c.2992A>G (p.Thr998Ala)
c.2983A>G (p.Thr995Ala)
c.2944A>G (p.Thr982Ala)
c.2890A>G (p.Thr964Ala)
c.2794A>G (p.Thr932Ala)
c.2764A>G (p.Thr922Ala)
c.2689A>G (p.Thr897Ala)
c.2587A>G (p.Thr863Ala)
c.2218A>G (p.Thr740Ala)
 dbSNP
5g.112838661A>TCA16028052APCc.2732A>T (n.2732A>T)
c.3121A>T (p.Thr1041Ser)
c.*3073A>T (n.*3073A>T)
c.3013A>T (p.Thr1005Ser)
c.3067A>T (p.Thr1023Ser)
c.1420A>T
c.*2389A>T (n.*2389A>T)
c.230+9689A>T
c.3097A>T (p.Thr1033Ser)
c.2992A>T (p.Thr998Ser)
c.2983A>T (p.Thr995Ser)
c.2944A>T (p.Thr982Ser)
c.2890A>T (p.Thr964Ser)
c.2794A>T (p.Thr932Ser)
c.2764A>T (p.Thr922Ser)
c.2689A>T (p.Thr897Ser)
c.2587A>T (p.Thr863Ser)
c.2218A>T (p.Thr740Ser)
 dbSNP
5g.112838661dupCA10578349APCc.2732dup (n.2732dup)
c.3121dup (p.Thr1041AsnfsTer6)
c.*3073dup (n.*3073dup)
c.3013dup (p.Thr1005AsnfsTer6)
c.3067dup (p.Thr1023AsnfsTer6)
c.1420dup
c.*2389dup (n.*2389dup)
c.230+9689dup
c.3097dup (p.Thr1033AsnfsTer6)
c.2992dup (p.Thr998AsnfsTer6)
c.2983dup (p.Thr995AsnfsTer6)
c.2944dup (p.Thr982AsnfsTer6)
c.2890dup (p.Thr964AsnfsTer6)
c.2794dup (p.Thr932AsnfsTer6)
c.2764dup (p.Thr922AsnfsTer6)
c.2689dup (p.Thr897AsnfsTer6)
c.2587dup (p.Thr863AsnfsTer6)
c.2218dup (p.Thr740AsnfsTer6)
 ClinVar dbSNP COSMIC
5g.112838663_112838664delCA658760867APCc.2734_2735del (n.2734_2735del)
c.3123_3124del (p.Pro1042AsnfsTer4)
c.*3075_*3076del (n.*3075_*3076del)
c.3015_3016del (p.Pro1006AsnfsTer4)
c.3069_3070del (p.Pro1024AsnfsTer4)
c.1422_1423del
c.*2391_*2392del (n.*2391_*2392del)
c.230+9691_230+9692del
c.3099_3100del (p.Pro1034AsnfsTer4)
c.2994_2995del (p.Pro999AsnfsTer4)
c.2985_2986del (p.Pro996AsnfsTer4)
c.2946_2947del (p.Pro983AsnfsTer4)
c.2892_2893del (p.Pro965AsnfsTer4)
c.2796_2797del (p.Pro933AsnfsTer4)
c.2766_2767del (p.Pro923AsnfsTer4)
c.2691_2692del (p.Pro898AsnfsTer4)
c.2589_2590del (p.Pro864AsnfsTer4)
c.2220_2221del (p.Pro741AsnfsTer4)
5g.112838662delCA658760868APCc.2733del (n.2733del)
c.3122del (p.Thr1041AsnfsTer3)
c.*3074del (n.*3074del)
c.3014del (p.Thr1005AsnfsTer3)
c.3068del (p.Thr1023AsnfsTer3)
c.1421del
c.*2390del (n.*2390del)
c.230+9690del
c.3098del (p.Thr1033AsnfsTer3)
c.2993del (p.Thr998AsnfsTer3)
c.2984del (p.Thr995AsnfsTer3)
c.2945del (p.Thr982AsnfsTer3)
c.2891del (p.Thr964AsnfsTer3)
c.2795del (p.Thr932AsnfsTer3)
c.2765del (p.Thr922AsnfsTer3)
c.2690del (p.Thr897AsnfsTer3)
c.2588del (p.Thr863AsnfsTer3)
c.2219del (p.Thr740AsnfsTer3)
 ClinVar
5g.112838662C>ACA16028053APCc.2733C>A (n.2733C>A)
c.3122C>A (p.Thr1041Lys)
c.*3074C>A (n.*3074C>A)
c.3014C>A (p.Thr1005Lys)
c.3068C>A (p.Thr1023Lys)
c.1421C>A
c.*2390C>A (n.*2390C>A)
c.230+9690C>A
c.3098C>A (p.Thr1033Lys)
c.2993C>A (p.Thr998Lys)
c.2984C>A (p.Thr995Lys)
c.2945C>A (p.Thr982Lys)
c.2891C>A (p.Thr964Lys)
c.2795C>A (p.Thr932Lys)
c.2765C>A (p.Thr922Lys)
c.2690C>A (p.Thr897Lys)
c.2588C>A (p.Thr863Lys)
c.2219C>A (p.Thr740Lys)
 dbSNP
5g.112838662C=CA1573485827APCc.2733C= (n.2733C=)
c.3122C= (p.Thr1041=)
c.*3074C= (n.*3074C=)
c.3014C= (p.Thr1005=)
c.3068C= (p.Thr1023=)
c.1421C=
c.*2390C= (n.*2390C=)
c.230+9690C=
c.3098C= (p.Thr1033=)
c.2993C= (p.Thr998=)
c.2984C= (p.Thr995=)
c.2945C= (p.Thr982=)
c.2891C= (p.Thr964=)
c.2795C= (p.Thr932=)
c.2765C= (p.Thr922=)
c.2690C= (p.Thr897=)
c.2588C= (p.Thr863=)
c.2219C= (p.Thr740=)
5g.112838662C>GCA16028054APCc.2733C>G (n.2733C>G)
c.3122C>G (p.Thr1041Arg)
c.*3074C>G (n.*3074C>G)
c.3014C>G (p.Thr1005Arg)
c.3068C>G (p.Thr1023Arg)
c.1421C>G
c.*2390C>G (n.*2390C>G)
c.230+9690C>G
c.3098C>G (p.Thr1033Arg)
c.2993C>G (p.Thr998Arg)
c.2984C>G (p.Thr995Arg)
c.2945C>G (p.Thr982Arg)
c.2891C>G (p.Thr964Arg)
c.2795C>G (p.Thr932Arg)
c.2765C>G (p.Thr922Arg)
c.2690C>G (p.Thr897Arg)
c.2588C>G (p.Thr863Arg)
c.2219C>G (p.Thr740Arg)
 dbSNP
5g.112838662C>TCA16028055APCc.2733C>T (n.2733C>T)
c.3122C>T (p.Thr1041Ile)
c.*3074C>T (n.*3074C>T)
c.3014C>T (p.Thr1005Ile)
c.3068C>T (p.Thr1023Ile)
c.1421C>T
c.*2390C>T (n.*2390C>T)
c.230+9690C>T
c.3098C>T (p.Thr1033Ile)
c.2993C>T (p.Thr998Ile)
c.2984C>T (p.Thr995Ile)
c.2945C>T (p.Thr982Ile)
c.2891C>T (p.Thr964Ile)
c.2795C>T (p.Thr932Ile)
c.2765C>T (p.Thr922Ile)
c.2690C>T (p.Thr897Ile)
c.2588C>T (p.Thr863Ile)
c.2219C>T (p.Thr740Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838663delCA2582341483APCc.2734del (n.2734del)
c.3123del (p.Pro1042GlnfsTer2)
c.*3075del (n.*3075del)
c.3015del (p.Pro1006GlnfsTer2)
c.3069del (p.Pro1024GlnfsTer2)
c.1422del
c.*2391del (n.*2391del)
c.230+9691del
c.3099del (p.Pro1034GlnfsTer2)
c.2994del (p.Pro999GlnfsTer2)
c.2985del (p.Pro996GlnfsTer2)
c.2946del (p.Pro983GlnfsTer2)
c.2892del (p.Pro965GlnfsTer2)
c.2796del (p.Pro933GlnfsTer2)
c.2766del (p.Pro923GlnfsTer2)
c.2691del (p.Pro898GlnfsTer2)
c.2589del (p.Pro864GlnfsTer2)
c.2220del (p.Pro741GlnfsTer2)
 ClinVar
5g.112838663A>CCA445963155APCc.2734A>C (n.2734A>C)
c.3123A>C (p.Thr1041=)
c.*3075A>C (n.*3075A>C)
c.3015A>C (p.Thr1005=)
c.3069A>C (p.Thr1023=)
c.1422A>C
c.*2391A>C (n.*2391A>C)
c.230+9691A>C
c.3099A>C (p.Thr1033=)
c.2994A>C (p.Thr998=)
c.2985A>C (p.Thr995=)
c.2946A>C (p.Thr982=)
c.2892A>C (p.Thr964=)
c.2796A>C (p.Thr932=)
c.2766A>C (p.Thr922=)
c.2691A>C (p.Thr897=)
c.2589A>C (p.Thr863=)
c.2220A>C (p.Thr740=)
5g.112838663A>GCA445963156APCc.2734A>G (n.2734A>G)
c.3123A>G (p.Thr1041=)
c.*3075A>G (n.*3075A>G)
c.3015A>G (p.Thr1005=)
c.3069A>G (p.Thr1023=)
c.1422A>G
c.*2391A>G (n.*2391A>G)
c.230+9691A>G
c.3099A>G (p.Thr1033=)
c.2994A>G (p.Thr998=)
c.2985A>G (p.Thr995=)
c.2946A>G (p.Thr982=)
c.2892A>G (p.Thr964=)
c.2796A>G (p.Thr932=)
c.2766A>G (p.Thr922=)
c.2691A>G (p.Thr897=)
c.2589A>G (p.Thr863=)
c.2220A>G (p.Thr740=)
 ClinVar
5g.112838663A>TCA445963157APCc.2734A>T (n.2734A>T)
c.3123A>T (p.Thr1041=)
c.*3075A>T (n.*3075A>T)
c.3015A>T (p.Thr1005=)
c.3069A>T (p.Thr1023=)
c.1422A>T
c.*2391A>T (n.*2391A>T)
c.230+9691A>T
c.3099A>T (p.Thr1033=)
c.2994A>T (p.Thr998=)
c.2985A>T (p.Thr995=)
c.2946A>T (p.Thr982=)
c.2892A>T (p.Thr964=)
c.2796A>T (p.Thr932=)
c.2766A>T (p.Thr922=)
c.2691A>T (p.Thr897=)
c.2589A>T (p.Thr863=)
c.2220A>T (p.Thr740=)
5g.112838664C>ACA16028056APCc.2735C>A (n.2735C>A)
c.3124C>A (p.Pro1042Thr)
c.*3076C>A (n.*3076C>A)
c.3016C>A (p.Pro1006Thr)
c.3070C>A (p.Pro1024Thr)
c.1423C>A
c.*2392C>A (n.*2392C>A)
c.230+9692C>A
c.3100C>A (p.Pro1034Thr)
c.2995C>A (p.Pro999Thr)
c.2986C>A (p.Pro996Thr)
c.2947C>A (p.Pro983Thr)
c.2893C>A (p.Pro965Thr)
c.2797C>A (p.Pro933Thr)
c.2767C>A (p.Pro923Thr)
c.2692C>A (p.Pro898Thr)
c.2590C>A (p.Pro864Thr)
c.2221C>A (p.Pro741Thr)
 dbSNP
5g.112838664C=CA1573485834APCc.2735C= (n.2735C=)
c.3124C= (p.Pro1042=)
c.*3076C= (n.*3076C=)
c.3016C= (p.Pro1006=)
c.3070C= (p.Pro1024=)
c.1423C=
c.*2392C= (n.*2392C=)
c.230+9692C=
c.3100C= (p.Pro1034=)
c.2995C= (p.Pro999=)
c.2986C= (p.Pro996=)
c.2947C= (p.Pro983=)
c.2893C= (p.Pro965=)
c.2797C= (p.Pro933=)
c.2767C= (p.Pro923=)
c.2692C= (p.Pro898=)
c.2590C= (p.Pro864=)
c.2221C= (p.Pro741=)
5g.112838664C>GCA16028057APCc.2735C>G (n.2735C>G)
c.3124C>G (p.Pro1042Ala)
c.*3076C>G (n.*3076C>G)
c.3016C>G (p.Pro1006Ala)
c.3070C>G (p.Pro1024Ala)
c.1423C>G
c.*2392C>G (n.*2392C>G)
c.230+9692C>G
c.3100C>G (p.Pro1034Ala)
c.2995C>G (p.Pro999Ala)
c.2986C>G (p.Pro996Ala)
c.2947C>G (p.Pro983Ala)
c.2893C>G (p.Pro965Ala)
c.2797C>G (p.Pro933Ala)
c.2767C>G (p.Pro923Ala)
c.2692C>G (p.Pro898Ala)
c.2590C>G (p.Pro864Ala)
c.2221C>G (p.Pro741Ala)
 ClinVar dbSNP COSMIC
5g.112838664C>TCA008017APCc.2735C>T (n.2735C>T)
c.3124C>T (p.Pro1042Ser)
c.*3076C>T (n.*3076C>T)
c.3016C>T (p.Pro1006Ser)
c.3070C>T (p.Pro1024Ser)
c.1423C>T
c.*2392C>T (n.*2392C>T)
c.230+9692C>T
c.3100C>T (p.Pro1034Ser)
c.2995C>T (p.Pro999Ser)
c.2986C>T (p.Pro996Ser)
c.2947C>T (p.Pro983Ser)
c.2893C>T (p.Pro965Ser)
c.2797C>T (p.Pro933Ser)
c.2767C>T (p.Pro923Ser)
c.2692C>T (p.Pro898Ser)
c.2590C>T (p.Pro864Ser)
c.2221C>T (p.Pro741Ser)
 ClinVar dbSNP
5g.112838665delCA658760869APCc.2736del (n.2736del)
c.3125del (p.Pro1042GlnfsTer2)
c.*3077del (n.*3077del)
c.3017del (p.Pro1006GlnfsTer2)
c.3071del (p.Pro1024GlnfsTer2)
c.1424del
c.*2393del (n.*2393del)
c.230+9693del
c.3101del (p.Pro1034GlnfsTer2)
c.2996del (p.Pro999GlnfsTer2)
c.2987del (p.Pro996GlnfsTer2)
c.2948del (p.Pro983GlnfsTer2)
c.2894del (p.Pro965GlnfsTer2)
c.2798del (p.Pro933GlnfsTer2)
c.2768del (p.Pro923GlnfsTer2)
c.2693del (p.Pro898GlnfsTer2)
c.2591del (p.Pro864GlnfsTer2)
c.2222del (p.Pro741GlnfsTer2)
5g.112838665C>ACA16028058APCc.2736C>A (n.2736C>A)
c.3125C>A (p.Pro1042Gln)
c.*3077C>A (n.*3077C>A)
c.3017C>A (p.Pro1006Gln)
c.3071C>A (p.Pro1024Gln)
c.1424C>A
c.*2393C>A (n.*2393C>A)
c.230+9693C>A
c.3101C>A (p.Pro1034Gln)
c.2996C>A (p.Pro999Gln)
c.2987C>A (p.Pro996Gln)
c.2948C>A (p.Pro983Gln)
c.2894C>A (p.Pro965Gln)
c.2798C>A (p.Pro933Gln)
c.2768C>A (p.Pro923Gln)
c.2693C>A (p.Pro898Gln)
c.2591C>A (p.Pro864Gln)
c.2222C>A (p.Pro741Gln)
 ClinVar dbSNP
5g.112838665C>GCA16028059APCc.2736C>G (n.2736C>G)
c.3125C>G (p.Pro1042Arg)
c.*3077C>G (n.*3077C>G)
c.3017C>G (p.Pro1006Arg)
c.3071C>G (p.Pro1024Arg)
c.1424C>G
c.*2393C>G (n.*2393C>G)
c.230+9693C>G
c.3101C>G (p.Pro1034Arg)
c.2996C>G (p.Pro999Arg)
c.2987C>G (p.Pro996Arg)
c.2948C>G (p.Pro983Arg)
c.2894C>G (p.Pro965Arg)
c.2798C>G (p.Pro933Arg)
c.2768C>G (p.Pro923Arg)
c.2693C>G (p.Pro898Arg)
c.2591C>G (p.Pro864Arg)
c.2222C>G (p.Pro741Arg)
 dbSNP
5g.112838665C>TCA16028060APCc.2736C>T (n.2736C>T)
c.3125C>T (p.Pro1042Leu)
c.*3077C>T (n.*3077C>T)
c.3017C>T (p.Pro1006Leu)
c.3071C>T (p.Pro1024Leu)
c.1424C>T
c.*2393C>T (n.*2393C>T)
c.230+9693C>T
c.3101C>T (p.Pro1034Leu)
c.2996C>T (p.Pro999Leu)
c.2987C>T (p.Pro996Leu)
c.2948C>T (p.Pro983Leu)
c.2894C>T (p.Pro965Leu)
c.2798C>T (p.Pro933Leu)
c.2768C>T (p.Pro923Leu)
c.2693C>T (p.Pro898Leu)
c.2591C>T (p.Pro864Leu)
c.2222C>T (p.Pro741Leu)
 ClinVar dbSNP
5g.112838666A=CA1573485840APCc.2737A= (n.2737A=)
c.3126A= (p.Pro1042=)
c.*3078A= (n.*3078A=)
c.3018A= (p.Pro1006=)
c.3072A= (p.Pro1024=)
c.1425A=
c.*2394A= (n.*2394A=)
c.230+9694A=
c.3102A= (p.Pro1034=)
c.2997A= (p.Pro999=)
c.2988A= (p.Pro996=)
c.2949A= (p.Pro983=)
c.2895A= (p.Pro965=)
c.2799A= (p.Pro933=)
c.2769A= (p.Pro923=)
c.2694A= (p.Pro898=)
c.2592A= (p.Pro864=)
c.2223A= (p.Pro741=)
5g.112838666A>CCA445963160APCc.2737A>C (n.2737A>C)
c.3126A>C (p.Pro1042=)
c.*3078A>C (n.*3078A>C)
c.3018A>C (p.Pro1006=)
c.3072A>C (p.Pro1024=)
c.1425A>C
c.*2394A>C (n.*2394A>C)
c.230+9694A>C
c.3102A>C (p.Pro1034=)
c.2997A>C (p.Pro999=)
c.2988A>C (p.Pro996=)
c.2949A>C (p.Pro983=)
c.2895A>C (p.Pro965=)
c.2799A>C (p.Pro933=)
c.2769A>C (p.Pro923=)
c.2694A>C (p.Pro898=)
c.2592A>C (p.Pro864=)
c.2223A>C (p.Pro741=)
5g.112838666A>GCA445963158APCc.2737A>G (n.2737A>G)
c.3126A>G (p.Pro1042=)
c.*3078A>G (n.*3078A>G)
c.3018A>G (p.Pro1006=)
c.3072A>G (p.Pro1024=)
c.1425A>G
c.*2394A>G (n.*2394A>G)
c.230+9694A>G
c.3102A>G (p.Pro1034=)
c.2997A>G (p.Pro999=)
c.2988A>G (p.Pro996=)
c.2949A>G (p.Pro983=)
c.2895A>G (p.Pro965=)
c.2799A>G (p.Pro933=)
c.2769A>G (p.Pro923=)
c.2694A>G (p.Pro898=)
c.2592A>G (p.Pro864=)
c.2223A>G (p.Pro741=)
 ClinVar dbSNP gnomAD v4
5g.112838666A>TCA445963159APCc.2737A>T (n.2737A>T)
c.3126A>T (p.Pro1042=)
c.*3078A>T (n.*3078A>T)
c.3018A>T (p.Pro1006=)
c.3072A>T (p.Pro1024=)
c.1425A>T
c.*2394A>T (n.*2394A>T)
c.230+9694A>T
c.3102A>T (p.Pro1034=)
c.2997A>T (p.Pro999=)
c.2988A>T (p.Pro996=)
c.2949A>T (p.Pro983=)
c.2895A>T (p.Pro965=)
c.2799A>T (p.Pro933=)
c.2769A>T (p.Pro923=)
c.2694A>T (p.Pro898=)
c.2592A>T (p.Pro864=)
c.2223A>T (p.Pro741=)
 dbSNP
5g.112838667A=CA1573485847APCc.2738A= (n.2738A=)
c.3127A= (p.Ile1043=)
c.*3079A= (n.*3079A=)
c.3019A= (p.Ile1007=)
c.3073A= (p.Ile1025=)
c.1426A=
c.*2395A= (n.*2395A=)
c.230+9695A=
c.3103A= (p.Ile1035=)
c.2998A= (p.Ile1000=)
c.2989A= (p.Ile997=)
c.2950A= (p.Ile984=)
c.2896A= (p.Ile966=)
c.2800A= (p.Ile934=)
c.2770A= (p.Ile924=)
c.2695A= (p.Ile899=)
c.2593A= (p.Ile865=)
c.2224A= (p.Ile742=)
5g.112838667A>CCA16028061APCc.2738A>C (n.2738A>C)
c.3127A>C (p.Ile1043Leu)
c.*3079A>C (n.*3079A>C)
c.3019A>C (p.Ile1007Leu)
c.3073A>C (p.Ile1025Leu)
c.1426A>C
c.*2395A>C (n.*2395A>C)
c.230+9695A>C
c.3103A>C (p.Ile1035Leu)
c.2998A>C (p.Ile1000Leu)
c.2989A>C (p.Ile997Leu)
c.2950A>C (p.Ile984Leu)
c.2896A>C (p.Ile966Leu)
c.2800A>C (p.Ile934Leu)
c.2770A>C (p.Ile924Leu)
c.2695A>C (p.Ile899Leu)
c.2593A>C (p.Ile865Leu)
c.2224A>C (p.Ile742Leu)
 dbSNP
5g.112838667A>GCA008024APCc.2738A>G (n.2738A>G)
c.3127A>G (p.Ile1043Val)
c.*3079A>G (n.*3079A>G)
c.3019A>G (p.Ile1007Val)
c.3073A>G (p.Ile1025Val)
c.1426A>G
c.*2395A>G (n.*2395A>G)
c.230+9695A>G
c.3103A>G (p.Ile1035Val)
c.2998A>G (p.Ile1000Val)
c.2989A>G (p.Ile997Val)
c.2950A>G (p.Ile984Val)
c.2896A>G (p.Ile966Val)
c.2800A>G (p.Ile934Val)
c.2770A>G (p.Ile924Val)
c.2695A>G (p.Ile899Val)
c.2593A>G (p.Ile865Val)
c.2224A>G (p.Ile742Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112838667A>TCA16028062APCc.2738A>T (n.2738A>T)
c.3127A>T (p.Ile1043Leu)
c.*3079A>T (n.*3079A>T)
c.3019A>T (p.Ile1007Leu)
c.3073A>T (p.Ile1025Leu)
c.1426A>T
c.*2395A>T (n.*2395A>T)
c.230+9695A>T
c.3103A>T (p.Ile1035Leu)
c.2998A>T (p.Ile1000Leu)
c.2989A>T (p.Ile997Leu)
c.2950A>T (p.Ile984Leu)
c.2896A>T (p.Ile966Leu)
c.2800A>T (p.Ile934Leu)
c.2770A>T (p.Ile924Leu)
c.2695A>T (p.Ile899Leu)
c.2593A>T (p.Ile865Leu)
c.2224A>T (p.Ile742Leu)
 dbSNP
5g.112838668T>ACA16028063APCc.2739T>A (n.2739T>A)
c.3128T>A (p.Ile1043Lys)
c.*3080T>A (n.*3080T>A)
c.3020T>A (p.Ile1007Lys)
c.3074T>A (p.Ile1025Lys)
c.1427T>A
c.*2396T>A (n.*2396T>A)
c.230+9696T>A
c.3104T>A (p.Ile1035Lys)
c.2999T>A (p.Ile1000Lys)
c.2990T>A (p.Ile997Lys)
c.2951T>A (p.Ile984Lys)
c.2897T>A (p.Ile966Lys)
c.2801T>A (p.Ile934Lys)
c.2771T>A (p.Ile924Lys)
c.2696T>A (p.Ile899Lys)
c.2594T>A (p.Ile865Lys)
c.2225T>A (p.Ile742Lys)
5g.112838668T>CCA16028064APCc.2739T>C (n.2739T>C)
c.3128T>C (p.Ile1043Thr)
c.*3080T>C (n.*3080T>C)
c.3020T>C (p.Ile1007Thr)
c.3074T>C (p.Ile1025Thr)
c.1427T>C
c.*2396T>C (n.*2396T>C)
c.230+9696T>C
c.3104T>C (p.Ile1035Thr)
c.2999T>C (p.Ile1000Thr)
c.2990T>C (p.Ile997Thr)
c.2951T>C (p.Ile984Thr)
c.2897T>C (p.Ile966Thr)
c.2801T>C (p.Ile934Thr)
c.2771T>C (p.Ile924Thr)
c.2696T>C (p.Ile899Thr)
c.2594T>C (p.Ile865Thr)
c.2225T>C (p.Ile742Thr)
5g.112838668T>GCA16028065APCc.2739T>G (n.2739T>G)
c.3128T>G (p.Ile1043Arg)
c.*3080T>G (n.*3080T>G)
c.3020T>G (p.Ile1007Arg)
c.3074T>G (p.Ile1025Arg)
c.1427T>G
c.*2396T>G (n.*2396T>G)
c.230+9696T>G
c.3104T>G (p.Ile1035Arg)
c.2999T>G (p.Ile1000Arg)
c.2990T>G (p.Ile997Arg)
c.2951T>G (p.Ile984Arg)
c.2897T>G (p.Ile966Arg)
c.2801T>G (p.Ile934Arg)
c.2771T>G (p.Ile924Arg)
c.2696T>G (p.Ile899Arg)
c.2594T>G (p.Ile865Arg)
c.2225T>G (p.Ile742Arg)
5g.112838669A>CCA445963161APCc.2740A>C (n.2740A>C)
c.3129A>C (p.Ile1043=)
c.*3081A>C (n.*3081A>C)
c.3021A>C (p.Ile1007=)
c.3075A>C (p.Ile1025=)
c.1428A>C
c.*2397A>C (n.*2397A>C)
c.230+9697A>C
c.3105A>C (p.Ile1035=)
c.3000A>C (p.Ile1000=)
c.2991A>C (p.Ile997=)
c.2952A>C (p.Ile984=)
c.2898A>C (p.Ile966=)
c.2802A>C (p.Ile934=)
c.2772A>C (p.Ile924=)
c.2697A>C (p.Ile899=)
c.2595A>C (p.Ile865=)
c.2226A>C (p.Ile742=)
5g.112838669A>GCA16028066APCc.2740A>G (n.2740A>G)
c.3129A>G (p.Ile1043Met)
c.*3081A>G (n.*3081A>G)
c.3021A>G (p.Ile1007Met)
c.3075A>G (p.Ile1025Met)
c.1428A>G
c.*2397A>G (n.*2397A>G)
c.230+9697A>G
c.3105A>G (p.Ile1035Met)
c.3000A>G (p.Ile1000Met)
c.2991A>G (p.Ile997Met)
c.2952A>G (p.Ile984Met)
c.2898A>G (p.Ile966Met)
c.2802A>G (p.Ile934Met)
c.2772A>G (p.Ile924Met)
c.2697A>G (p.Ile899Met)
c.2595A>G (p.Ile865Met)
c.2226A>G (p.Ile742Met)
 ClinVar
5g.112838669A>TCA445963162APCc.2740A>T (n.2740A>T)
c.3129A>T (p.Ile1043=)
c.*3081A>T (n.*3081A>T)
c.3021A>T (p.Ile1007=)
c.3075A>T (p.Ile1025=)
c.1428A>T
c.*2397A>T (n.*2397A>T)
c.230+9697A>T
c.3105A>T (p.Ile1035=)
c.3000A>T (p.Ile1000=)
c.2991A>T (p.Ile997=)
c.2952A>T (p.Ile984=)
c.2898A>T (p.Ile966=)
c.2802A>T (p.Ile934=)
c.2772A>T (p.Ile924=)
c.2697A>T (p.Ile899=)
c.2595A>T (p.Ile865=)
c.2226A>T (p.Ile742=)
 dbSNP
5g.112838671delCA445963163APCc.2742del (n.2742del)
c.3131del (p.Asn1044IlefsTer11)
c.*3083del (n.*3083del)
c.3023del (p.Asn1008IlefsTer11)
c.3077del (p.Asn1026IlefsTer11)
c.1430del
c.*2399del (n.*2399del)
c.230+9699del
c.3107del (p.Asn1036IlefsTer11)
c.3002del (p.Asn1001IlefsTer11)
c.2993del (p.Asn998IlefsTer11)
c.2954del (p.Asn985IlefsTer11)
c.2900del (p.Asn967IlefsTer11)
c.2804del (p.Asn935IlefsTer11)
c.2774del (p.Asn925IlefsTer11)
c.2699del (p.Asn900IlefsTer11)
c.2597del (p.Asn866IlefsTer11)
c.2228del (p.Asn743IlefsTer11)
5g.112838670A>CCA16028067APCc.2741A>C (n.2741A>C)
c.3130A>C (p.Asn1044His)
c.*3082A>C (n.*3082A>C)
c.3022A>C (p.Asn1008His)
c.3076A>C (p.Asn1026His)
c.1429A>C
c.*2398A>C (n.*2398A>C)
c.230+9698A>C
c.3106A>C (p.Asn1036His)
c.3001A>C (p.Asn1001His)
c.2992A>C (p.Asn998His)
c.2953A>C (p.Asn985His)
c.2899A>C (p.Asn967His)
c.2803A>C (p.Asn935His)
c.2773A>C (p.Asn925His)
c.2698A>C (p.Asn900His)
c.2596A>C (p.Asn866His)
c.2227A>C (p.Asn743His)
 dbSNP
5g.112838670A>GCA16028068APCc.2741A>G (n.2741A>G)
c.3130A>G (p.Asn1044Asp)
c.*3082A>G (n.*3082A>G)
c.3022A>G (p.Asn1008Asp)
c.3076A>G (p.Asn1026Asp)
c.1429A>G
c.*2398A>G (n.*2398A>G)
c.230+9698A>G
c.3106A>G (p.Asn1036Asp)
c.3001A>G (p.Asn1001Asp)
c.2992A>G (p.Asn998Asp)
c.2953A>G (p.Asn985Asp)
c.2899A>G (p.Asn967Asp)
c.2803A>G (p.Asn935Asp)
c.2773A>G (p.Asn925Asp)
c.2698A>G (p.Asn900Asp)
c.2596A>G (p.Asn866Asp)
c.2227A>G (p.Asn743Asp)
5g.112838670A>TCA16028069APCc.2741A>T (n.2741A>T)
c.3130A>T (p.Asn1044Tyr)
c.*3082A>T (n.*3082A>T)
c.3022A>T (p.Asn1008Tyr)
c.3076A>T (p.Asn1026Tyr)
c.1429A>T
c.*2398A>T (n.*2398A>T)
c.230+9698A>T
c.3106A>T (p.Asn1036Tyr)
c.3001A>T (p.Asn1001Tyr)
c.2992A>T (p.Asn998Tyr)
c.2953A>T (p.Asn985Tyr)
c.2899A>T (p.Asn967Tyr)
c.2803A>T (p.Asn935Tyr)
c.2773A>T (p.Asn925Tyr)
c.2698A>T (p.Asn900Tyr)
c.2596A>T (p.Asn866Tyr)
c.2227A>T (p.Asn743Tyr)
 dbSNP
5g.112838671A=CA1573485859APCc.2742A= (n.2742A=)
c.3131A= (p.Asn1044=)
c.*3083A= (n.*3083A=)
c.3023A= (p.Asn1008=)
c.3077A= (p.Asn1026=)
c.1430A=
c.*2399A= (n.*2399A=)
c.230+9699A=
c.3107A= (p.Asn1036=)
c.3002A= (p.Asn1001=)
c.2993A= (p.Asn998=)
c.2954A= (p.Asn985=)
c.2900A= (p.Asn967=)
c.2804A= (p.Asn935=)
c.2774A= (p.Asn925=)
c.2699A= (p.Asn900=)
c.2597A= (p.Asn866=)
c.2228A= (p.Asn743=)
5g.112838671A>CCA16028070APCc.2742A>C (n.2742A>C)
c.3131A>C (p.Asn1044Thr)
c.*3083A>C (n.*3083A>C)
c.3023A>C (p.Asn1008Thr)
c.3077A>C (p.Asn1026Thr)
c.1430A>C
c.*2399A>C (n.*2399A>C)
c.230+9699A>C
c.3107A>C (p.Asn1036Thr)
c.3002A>C (p.Asn1001Thr)
c.2993A>C (p.Asn998Thr)
c.2954A>C (p.Asn985Thr)
c.2900A>C (p.Asn967Thr)
c.2804A>C (p.Asn935Thr)
c.2774A>C (p.Asn925Thr)
c.2699A>C (p.Asn900Thr)
c.2597A>C (p.Asn866Thr)
c.2228A>C (p.Asn743Thr)
 ClinVar dbSNP
5g.112838671A>GCA16028071APCc.2742A>G (n.2742A>G)
c.3131A>G (p.Asn1044Ser)
c.*3083A>G (n.*3083A>G)
c.3023A>G (p.Asn1008Ser)
c.3077A>G (p.Asn1026Ser)
c.1430A>G
c.*2399A>G (n.*2399A>G)
c.230+9699A>G
c.3107A>G (p.Asn1036Ser)
c.3002A>G (p.Asn1001Ser)
c.2993A>G (p.Asn998Ser)
c.2954A>G (p.Asn985Ser)
c.2900A>G (p.Asn967Ser)
c.2804A>G (p.Asn935Ser)
c.2774A>G (p.Asn925Ser)
c.2699A>G (p.Asn900Ser)
c.2597A>G (p.Asn866Ser)
c.2228A>G (p.Asn743Ser)
 ClinVar dbSNP gnomAD v4
5g.112838671A>TCA16028072APCc.2742A>T (n.2742A>T)
c.3131A>T (p.Asn1044Ile)
c.*3083A>T (n.*3083A>T)
c.3023A>T (p.Asn1008Ile)
c.3077A>T (p.Asn1026Ile)
c.1430A>T
c.*2399A>T (n.*2399A>T)
c.230+9699A>T
c.3107A>T (p.Asn1036Ile)
c.3002A>T (p.Asn1001Ile)
c.2993A>T (p.Asn998Ile)
c.2954A>T (p.Asn985Ile)
c.2900A>T (p.Asn967Ile)
c.2804A>T (p.Asn935Ile)
c.2774A>T (p.Asn925Ile)
c.2699A>T (p.Asn900Ile)
c.2597A>T (p.Asn866Ile)
c.2228A>T (p.Asn743Ile)
5g.112838672T>ACA16028073APCc.2743T>A (n.2743T>A)
c.3132T>A (p.Asn1044Lys)
c.*3084T>A (n.*3084T>A)
c.3024T>A (p.Asn1008Lys)
c.3078T>A (p.Asn1026Lys)
c.1431T>A
c.*2400T>A (n.*2400T>A)
c.230+9700T>A
c.3108T>A (p.Asn1036Lys)
c.3003T>A (p.Asn1001Lys)
c.2994T>A (p.Asn998Lys)
c.2955T>A (p.Asn985Lys)
c.2901T>A (p.Asn967Lys)
c.2805T>A (p.Asn935Lys)
c.2775T>A (p.Asn925Lys)
c.2700T>A (p.Asn900Lys)
c.2598T>A (p.Asn866Lys)
c.2229T>A (p.Asn743Lys)
 dbSNP
5g.112838672T>CCA445963164APCc.2743T>C (n.2743T>C)
c.3132T>C (p.Asn1044=)
c.*3084T>C (n.*3084T>C)
c.3024T>C (p.Asn1008=)
c.3078T>C (p.Asn1026=)
c.1431T>C
c.*2400T>C (n.*2400T>C)
c.230+9700T>C
c.3108T>C (p.Asn1036=)
c.3003T>C (p.Asn1001=)
c.2994T>C (p.Asn998=)
c.2955T>C (p.Asn985=)
c.2901T>C (p.Asn967=)
c.2805T>C (p.Asn935=)
c.2775T>C (p.Asn925=)
c.2700T>C (p.Asn900=)
c.2598T>C (p.Asn866=)
c.2229T>C (p.Asn743=)
 ClinVar
5g.112838672T>GCA16028074APCc.2743T>G (n.2743T>G)
c.3132T>G (p.Asn1044Lys)
c.*3084T>G (n.*3084T>G)
c.3024T>G (p.Asn1008Lys)
c.3078T>G (p.Asn1026Lys)
c.1431T>G
c.*2400T>G (n.*2400T>G)
c.230+9700T>G
c.3108T>G (p.Asn1036Lys)
c.3003T>G (p.Asn1001Lys)
c.2994T>G (p.Asn998Lys)
c.2955T>G (p.Asn985Lys)
c.2901T>G (p.Asn967Lys)
c.2805T>G (p.Asn935Lys)
c.2775T>G (p.Asn925Lys)
c.2700T>G (p.Asn900Lys)
c.2598T>G (p.Asn866Lys)
c.2229T>G (p.Asn743Lys)
 dbSNP COSMIC
5g.112838672_112838673delCA891841971APCc.2743_2744del (n.2743_2744del)
c.3132_3133del (p.Asn1044LysfsTer2)
c.*3084_*3085del (n.*3084_*3085del)
c.3024_3025del (p.Asn1008LysfsTer2)
c.3078_3079del (p.Asn1026LysfsTer2)
c.1431_1432del
c.*2400_*2401del (n.*2400_*2401del)
c.230+9700_230+9701del
c.3108_3109del (p.Asn1036LysfsTer2)
c.3003_3004del (p.Asn1001LysfsTer2)
c.2994_2995del (p.Asn998LysfsTer2)
c.2955_2956del (p.Asn985LysfsTer2)
c.2901_2902del (p.Asn967LysfsTer2)
c.2805_2806del (p.Asn935LysfsTer2)
c.2775_2776del (p.Asn925LysfsTer2)
c.2700_2701del (p.Asn900LysfsTer2)
c.2598_2599del (p.Asn866LysfsTer2)
c.2229_2230del (p.Asn743LysfsTer2)
5g.112838673dupCA279808APCc.2744dup (n.2744dup)
c.3133dup (p.Tyr1045LeufsTer2)
c.*3085dup (n.*3085dup)
c.3025dup (p.Tyr1009LeufsTer2)
c.3079dup (p.Tyr1027LeufsTer2)
c.1432dup
c.*2401dup (n.*2401dup)
c.230+9701dup
c.3109dup (p.Tyr1037LeufsTer2)
c.3004dup (p.Tyr1002LeufsTer2)
c.2995dup (p.Tyr999LeufsTer2)
c.2956dup (p.Tyr986LeufsTer2)
c.2902dup (p.Tyr968LeufsTer2)
c.2806dup (p.Tyr936LeufsTer2)
c.2776dup (p.Tyr926LeufsTer2)
c.2701dup (p.Tyr901LeufsTer2)
c.2599dup (p.Tyr867LeufsTer2)
c.2230dup (p.Tyr744LeufsTer2)
 ClinVar dbSNP COSMIC
5g.112838673delCA658760870APCc.2744del (n.2744del)
c.3133del (p.Tyr1045IlefsTer10)
c.*3085del (n.*3085del)
c.3025del (p.Tyr1009IlefsTer10)
c.3079del (p.Tyr1027IlefsTer10)
c.1432del
c.*2401del (n.*2401del)
c.230+9701del
c.3109del (p.Tyr1037IlefsTer10)
c.3004del (p.Tyr1002IlefsTer10)
c.2995del (p.Tyr999IlefsTer10)
c.2956del (p.Tyr986IlefsTer10)
c.2902del (p.Tyr968IlefsTer10)
c.2806del (p.Tyr936IlefsTer10)
c.2776del (p.Tyr926IlefsTer10)
c.2701del (p.Tyr901IlefsTer10)
c.2599del (p.Tyr867IlefsTer10)
c.2230del (p.Tyr744IlefsTer10)
 ClinVar dbSNP
5g.112838673T>ACA16028075APCc.2744T>A (n.2744T>A)
c.3133T>A (p.Tyr1045Asn)
c.*3085T>A (n.*3085T>A)
c.3025T>A (p.Tyr1009Asn)
c.3079T>A (p.Tyr1027Asn)
c.1432T>A
c.*2401T>A (n.*2401T>A)
c.230+9701T>A
c.3109T>A (p.Tyr1037Asn)
c.3004T>A (p.Tyr1002Asn)
c.2995T>A (p.Tyr999Asn)
c.2956T>A (p.Tyr986Asn)
c.2902T>A (p.Tyr968Asn)
c.2806T>A (p.Tyr936Asn)
c.2776T>A (p.Tyr926Asn)
c.2701T>A (p.Tyr901Asn)
c.2599T>A (p.Tyr867Asn)
c.2230T>A (p.Tyr744Asn)
 dbSNP
5g.112838673T>CCA008031APCc.2744T>C (n.2744T>C)
c.3133T>C (p.Tyr1045His)
c.*3085T>C (n.*3085T>C)
c.3025T>C (p.Tyr1009His)
c.3079T>C (p.Tyr1027His)
c.1432T>C
c.*2401T>C (n.*2401T>C)
c.230+9701T>C
c.3109T>C (p.Tyr1037His)
c.3004T>C (p.Tyr1002His)
c.2995T>C (p.Tyr999His)
c.2956T>C (p.Tyr986His)
c.2902T>C (p.Tyr968His)
c.2806T>C (p.Tyr936His)
c.2776T>C (p.Tyr926His)
c.2701T>C (p.Tyr901His)
c.2599T>C (p.Tyr867His)
c.2230T>C (p.Tyr744His)
 ClinVar dbSNP COSMIC
5g.112838673T>GCA16028076APCc.2744T>G (n.2744T>G)
c.3133T>G (p.Tyr1045Asp)
c.*3085T>G (n.*3085T>G)
c.3025T>G (p.Tyr1009Asp)
c.3079T>G (p.Tyr1027Asp)
c.1432T>G
c.*2401T>G (n.*2401T>G)
c.230+9701T>G
c.3109T>G (p.Tyr1037Asp)
c.3004T>G (p.Tyr1002Asp)
c.2995T>G (p.Tyr999Asp)
c.2956T>G (p.Tyr986Asp)
c.2902T>G (p.Tyr968Asp)
c.2806T>G (p.Tyr936Asp)
c.2776T>G (p.Tyr926Asp)
c.2701T>G (p.Tyr901Asp)
c.2599T>G (p.Tyr867Asp)
c.2230T>G (p.Tyr744Asp)
 ClinVar dbSNP
5g.112838673T=CA1573485872APCc.2744T= (n.2744T=)
c.3133T= (p.Tyr1045=)
c.*3085T= (n.*3085T=)
c.3025T= (p.Tyr1009=)
c.3079T= (p.Tyr1027=)
c.1432T=
c.*2401T= (n.*2401T=)
c.230+9701T=
c.3109T= (p.Tyr1037=)
c.3004T= (p.Tyr1002=)
c.2995T= (p.Tyr999=)
c.2956T= (p.Tyr986=)
c.2902T= (p.Tyr968=)
c.2806T= (p.Tyr936=)
c.2776T= (p.Tyr926=)
c.2701T= (p.Tyr901=)
c.2599T= (p.Tyr867=)
c.2230T= (p.Tyr744=)
5g.112838675_112838676delCA658760871APCc.2746_2747del (n.2746_2747del)
c.3135_3136del (p.Tyr1045Ter)
c.*3087_*3088del (n.*3087_*3088del)
c.3027_3028del (p.Tyr1009Ter)
c.3081_3082del (p.Tyr1027Ter)
c.1434_1435del
c.*2403_*2404del (n.*2403_*2404del)
c.230+9703_230+9704del
c.3111_3112del (p.Tyr1037Ter)
c.3006_3007del (p.Tyr1002Ter)
c.2997_2998del (p.Tyr999Ter)
c.2958_2959del (p.Tyr986Ter)
c.2904_2905del (p.Tyr968Ter)
c.2808_2809del (p.Tyr936Ter)
c.2778_2779del (p.Tyr926Ter)
c.2703_2704del (p.Tyr901Ter)
c.2601_2602del (p.Tyr867Ter)
c.2232_2233del (p.Tyr744Ter)
5g.112838674A=CA1573485879APCc.2745A= (n.2745A=)
c.3134A= (p.Tyr1045=)
c.*3086A= (n.*3086A=)
c.3026A= (p.Tyr1009=)
c.3080A= (p.Tyr1027=)
c.1433A=
c.*2402A= (n.*2402A=)
c.230+9702A=
c.3110A= (p.Tyr1037=)
c.3005A= (p.Tyr1002=)
c.2996A= (p.Tyr999=)
c.2957A= (p.Tyr986=)
c.2903A= (p.Tyr968=)
c.2807A= (p.Tyr936=)
c.2777A= (p.Tyr926=)
c.2702A= (p.Tyr901=)
c.2600A= (p.Tyr867=)
c.2231A= (p.Tyr744=)
5g.112838674A>CCA16028077APCc.2745A>C (n.2745A>C)
c.3134A>C (p.Tyr1045Ser)
c.*3086A>C (n.*3086A>C)
c.3026A>C (p.Tyr1009Ser)
c.3080A>C (p.Tyr1027Ser)
c.1433A>C
c.*2402A>C (n.*2402A>C)
c.230+9702A>C
c.3110A>C (p.Tyr1037Ser)
c.3005A>C (p.Tyr1002Ser)
c.2996A>C (p.Tyr999Ser)
c.2957A>C (p.Tyr986Ser)
c.2903A>C (p.Tyr968Ser)
c.2807A>C (p.Tyr936Ser)
c.2777A>C (p.Tyr926Ser)
c.2702A>C (p.Tyr901Ser)
c.2600A>C (p.Tyr867Ser)
c.2231A>C (p.Tyr744Ser)
 dbSNP
5g.112838674A>GCA353549APCc.2745A>G (n.2745A>G)
c.3134A>G (p.Tyr1045Cys)
c.*3086A>G (n.*3086A>G)
c.3026A>G (p.Tyr1009Cys)
c.3080A>G (p.Tyr1027Cys)
c.1433A>G
c.*2402A>G (n.*2402A>G)
c.230+9702A>G
c.3110A>G (p.Tyr1037Cys)
c.3005A>G (p.Tyr1002Cys)
c.2996A>G (p.Tyr999Cys)
c.2957A>G (p.Tyr986Cys)
c.2903A>G (p.Tyr968Cys)
c.2807A>G (p.Tyr936Cys)
c.2777A>G (p.Tyr926Cys)
c.2702A>G (p.Tyr901Cys)
c.2600A>G (p.Tyr867Cys)
c.2231A>G (p.Tyr744Cys)
 ClinVar dbSNP COSMIC
5g.112838674A>TCA16028078APCc.2745A>T (n.2745A>T)
c.3134A>T (p.Tyr1045Phe)
c.*3086A>T (n.*3086A>T)
c.3026A>T (p.Tyr1009Phe)
c.3080A>T (p.Tyr1027Phe)
c.1433A>T
c.*2402A>T (n.*2402A>T)
c.230+9702A>T
c.3110A>T (p.Tyr1037Phe)
c.3005A>T (p.Tyr1002Phe)
c.2996A>T (p.Tyr999Phe)
c.2957A>T (p.Tyr986Phe)
c.2903A>T (p.Tyr968Phe)
c.2807A>T (p.Tyr936Phe)
c.2777A>T (p.Tyr926Phe)
c.2702A>T (p.Tyr901Phe)
c.2600A>T (p.Tyr867Phe)
c.2231A>T (p.Tyr744Phe)
 dbSNP
5g.112838675T>ACA16028079APCc.2746T>A (n.2746T>A)
c.3135T>A (p.Tyr1045Ter)
c.*3087T>A (n.*3087T>A)
c.3027T>A (p.Tyr1009Ter)
c.3081T>A (p.Tyr1027Ter)
c.1434T>A
c.*2403T>A (n.*2403T>A)
c.230+9703T>A
c.3111T>A (p.Tyr1037Ter)
c.3006T>A (p.Tyr1002Ter)
c.2997T>A (p.Tyr999Ter)
c.2958T>A (p.Tyr986Ter)
c.2904T>A (p.Tyr968Ter)
c.2808T>A (p.Tyr936Ter)
c.2778T>A (p.Tyr926Ter)
c.2703T>A (p.Tyr901Ter)
c.2601T>A (p.Tyr867Ter)
c.2232T>A (p.Tyr744Ter)
5g.112838675T>CCA10582303APCc.2746T>C (n.2746T>C)
c.3135T>C (p.Tyr1045=)
c.*3087T>C (n.*3087T>C)
c.3027T>C (p.Tyr1009=)
c.3081T>C (p.Tyr1027=)
c.1434T>C
c.*2403T>C (n.*2403T>C)
c.230+9703T>C
c.3111T>C (p.Tyr1037=)
c.3006T>C (p.Tyr1002=)
c.2997T>C (p.Tyr999=)
c.2958T>C (p.Tyr986=)
c.2904T>C (p.Tyr968=)
c.2808T>C (p.Tyr936=)
c.2778T>C (p.Tyr926=)
c.2703T>C (p.Tyr901=)
c.2601T>C (p.Tyr867=)
c.2232T>C (p.Tyr744=)
 ClinVar dbSNP gnomAD v2
5g.112838675T>GCA16028080APCc.2746T>G (n.2746T>G)
c.3135T>G (p.Tyr1045Ter)
c.*3087T>G (n.*3087T>G)
c.3027T>G (p.Tyr1009Ter)
c.3081T>G (p.Tyr1027Ter)
c.1434T>G
c.*2403T>G (n.*2403T>G)
c.230+9703T>G
c.3111T>G (p.Tyr1037Ter)
c.3006T>G (p.Tyr1002Ter)
c.2997T>G (p.Tyr999Ter)
c.2958T>G (p.Tyr986Ter)
c.2904T>G (p.Tyr968Ter)
c.2808T>G (p.Tyr936Ter)
c.2778T>G (p.Tyr926Ter)
c.2703T>G (p.Tyr901Ter)
c.2601T>G (p.Tyr867Ter)
c.2232T>G (p.Tyr744Ter)
5g.112838675T=CA1573485888APCc.2746T= (n.2746T=)
c.3135T= (p.Tyr1045=)
c.*3087T= (n.*3087T=)
c.3027T= (p.Tyr1009=)
c.3081T= (p.Tyr1027=)
c.1434T=
c.*2403T= (n.*2403T=)
c.230+9703T=
c.3111T= (p.Tyr1037=)
c.3006T= (p.Tyr1002=)
c.2997T= (p.Tyr999=)
c.2958T= (p.Tyr986=)
c.2904T= (p.Tyr968=)
c.2808T= (p.Tyr936=)
c.2778T= (p.Tyr926=)
c.2703T= (p.Tyr901=)
c.2601T= (p.Tyr867=)
c.2232T= (p.Tyr744=)
5g.112838675dupCA445963165APCc.2746dup (n.2746dup)
c.3135dup (p.Ser1046Ter)
c.*3087dup (n.*3087dup)
c.3027dup (p.Ser1010Ter)
c.3081dup (p.Ser1028Ter)
c.1434dup
c.*2403dup (n.*2403dup)
c.230+9703dup
c.3111dup (p.Ser1038Ter)
c.3006dup (p.Ser1003Ter)
c.2997dup (p.Ser1000Ter)
c.2958dup (p.Ser987Ter)
c.2904dup (p.Ser969Ter)
c.2808dup (p.Ser937Ter)
c.2778dup (p.Ser927Ter)
c.2703dup (p.Ser902Ter)
c.2601dup (p.Ser868Ter)
c.2232dup (p.Ser745Ter)
5g.112838675_112838676delinsGACCA645543551APCc.2746_2747delinsGAC (n.2746_2747delinsGAC)
c.3135_3136delinsGAC (p.Tyr1045Ter)
c.*3087_*3088delinsGAC (n.*3087_*3088delinsGAC)
c.3027_3028delinsGAC (p.Tyr1009Ter)
c.3081_3082delinsGAC (p.Tyr1027Ter)
c.1434_1435delinsGAC
c.*2403_*2404delinsGAC (n.*2403_*2404delinsGAC)
c.230+9703_230+9704delinsGAC
c.3111_3112delinsGAC (p.Tyr1037Ter)
c.3006_3007delinsGAC (p.Tyr1002Ter)
c.2997_2998delinsGAC (p.Tyr999Ter)
c.2958_2959delinsGAC (p.Tyr986Ter)
c.2904_2905delinsGAC (p.Tyr968Ter)
c.2808_2809delinsGAC (p.Tyr936Ter)
c.2778_2779delinsGAC (p.Tyr926Ter)
c.2703_2704delinsGAC (p.Tyr901Ter)
c.2601_2602delinsGAC (p.Tyr867Ter)
c.2232_2233delinsGAC (p.Tyr744Ter)
 COSMIC
5g.112838676delCA2695204886APCc.2747del (n.2747del)
c.3136del (p.Ser1046ValfsTer9)
c.*3088del (n.*3088del)
c.3028del (p.Ser1010ValfsTer9)
c.3082del (p.Ser1028ValfsTer9)
c.1435del
c.*2404del (n.*2404del)
c.230+9704del
c.3112del (p.Ser1038ValfsTer9)
c.3007del (p.Ser1003ValfsTer9)
c.2998del (p.Ser1000ValfsTer9)
c.2959del (p.Ser987ValfsTer9)
c.2905del (p.Ser969ValfsTer9)
c.2809del (p.Ser937ValfsTer9)
c.2779del (p.Ser927ValfsTer9)
c.2704del (p.Ser902ValfsTer9)
c.2602del (p.Ser868ValfsTer9)
c.2233del (p.Ser745ValfsTer9)
5g.112838676A>CCA16028081APCc.2747A>C (n.2747A>C)
c.3136A>C (p.Ser1046Arg)
c.*3088A>C (n.*3088A>C)
c.3028A>C (p.Ser1010Arg)
c.3082A>C (p.Ser1028Arg)
c.1435A>C
c.*2404A>C (n.*2404A>C)
c.230+9704A>C
c.3112A>C (p.Ser1038Arg)
c.3007A>C (p.Ser1003Arg)
c.2998A>C (p.Ser1000Arg)
c.2959A>C (p.Ser987Arg)
c.2905A>C (p.Ser969Arg)
c.2809A>C (p.Ser937Arg)
c.2779A>C (p.Ser927Arg)
c.2704A>C (p.Ser902Arg)
c.2602A>C (p.Ser868Arg)
c.2233A>C (p.Ser745Arg)
5g.112838676A>GCA16028082APCc.2747A>G (n.2747A>G)
c.3136A>G (p.Ser1046Gly)
c.*3088A>G (n.*3088A>G)
c.3028A>G (p.Ser1010Gly)
c.3082A>G (p.Ser1028Gly)
c.1435A>G
c.*2404A>G (n.*2404A>G)
c.230+9704A>G
c.3112A>G (p.Ser1038Gly)
c.3007A>G (p.Ser1003Gly)
c.2998A>G (p.Ser1000Gly)
c.2959A>G (p.Ser987Gly)
c.2905A>G (p.Ser969Gly)
c.2809A>G (p.Ser937Gly)
c.2779A>G (p.Ser927Gly)
c.2704A>G (p.Ser902Gly)
c.2602A>G (p.Ser868Gly)
c.2233A>G (p.Ser745Gly)
 ClinVar dbSNP
5g.112838676A>TCA16028083APCc.2747A>T (n.2747A>T)
c.3136A>T (p.Ser1046Cys)
c.*3088A>T (n.*3088A>T)
c.3028A>T (p.Ser1010Cys)
c.3082A>T (p.Ser1028Cys)
c.1435A>T
c.*2404A>T (n.*2404A>T)
c.230+9704A>T
c.3112A>T (p.Ser1038Cys)
c.3007A>T (p.Ser1003Cys)
c.2998A>T (p.Ser1000Cys)
c.2959A>T (p.Ser987Cys)
c.2905A>T (p.Ser969Cys)
c.2809A>T (p.Ser937Cys)
c.2779A>T (p.Ser927Cys)
c.2704A>T (p.Ser902Cys)
c.2602A>T (p.Ser868Cys)
c.2233A>T (p.Ser745Cys)
 dbSNP
5g.112838677G>ACA16028084APCc.2748G>A (n.2748G>A)
c.3137G>A (p.Ser1046Asn)
c.*3089G>A (n.*3089G>A)
c.3029G>A (p.Ser1010Asn)
c.3083G>A (p.Ser1028Asn)
c.1436G>A
c.*2405G>A (n.*2405G>A)
c.230+9705G>A
c.3113G>A (p.Ser1038Asn)
c.3008G>A (p.Ser1003Asn)
c.2999G>A (p.Ser1000Asn)
c.2960G>A (p.Ser987Asn)
c.2906G>A (p.Ser969Asn)
c.2810G>A (p.Ser937Asn)
c.2780G>A (p.Ser927Asn)
c.2705G>A (p.Ser902Asn)
c.2603G>A (p.Ser868Asn)
c.2234G>A (p.Ser745Asn)
 ClinVar dbSNP
5g.112838677G>CCA16028085APCc.2748G>C (n.2748G>C)
c.3137G>C (p.Ser1046Thr)
c.*3089G>C (n.*3089G>C)
c.3029G>C (p.Ser1010Thr)
c.3083G>C (p.Ser1028Thr)
c.1436G>C
c.*2405G>C (n.*2405G>C)
c.230+9705G>C
c.3113G>C (p.Ser1038Thr)
c.3008G>C (p.Ser1003Thr)
c.2999G>C (p.Ser1000Thr)
c.2960G>C (p.Ser987Thr)
c.2906G>C (p.Ser969Thr)
c.2810G>C (p.Ser937Thr)
c.2780G>C (p.Ser927Thr)
c.2705G>C (p.Ser902Thr)
c.2603G>C (p.Ser868Thr)
c.2234G>C (p.Ser745Thr)
 ClinVar dbSNP
5g.112838677G=CA1573485895APCc.2748G= (n.2748G=)
c.3137G= (p.Ser1046=)
c.*3089G= (n.*3089G=)
c.3029G= (p.Ser1010=)
c.3083G= (p.Ser1028=)
c.1436G=
c.*2405G= (n.*2405G=)
c.230+9705G=
c.3113G= (p.Ser1038=)
c.3008G= (p.Ser1003=)
c.2999G= (p.Ser1000=)
c.2960G= (p.Ser987=)
c.2906G= (p.Ser969=)
c.2810G= (p.Ser937=)
c.2780G= (p.Ser927=)
c.2705G= (p.Ser902=)
c.2603G= (p.Ser868=)
c.2234G= (p.Ser745=)
5g.112838677G>TCA16028086APCc.2748G>T (n.2748G>T)
c.3137G>T (p.Ser1046Ile)
c.*3089G>T (n.*3089G>T)
c.3029G>T (p.Ser1010Ile)
c.3083G>T (p.Ser1028Ile)
c.1436G>T
c.*2405G>T (n.*2405G>T)
c.230+9705G>T
c.3113G>T (p.Ser1038Ile)
c.3008G>T (p.Ser1003Ile)
c.2999G>T (p.Ser1000Ile)
c.2960G>T (p.Ser987Ile)
c.2906G>T (p.Ser969Ile)
c.2810G>T (p.Ser937Ile)
c.2780G>T (p.Ser927Ile)
c.2705G>T (p.Ser902Ile)
c.2603G>T (p.Ser868Ile)
c.2234G>T (p.Ser745Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838678T>ACA10578350APCc.2749T>A (n.2749T>A)
c.3138T>A (p.Ser1046Arg)
c.*3090T>A (n.*3090T>A)
c.3030T>A (p.Ser1010Arg)
c.3084T>A (p.Ser1028Arg)
c.1437T>A
c.*2406T>A (n.*2406T>A)
c.230+9706T>A
c.3114T>A (p.Ser1038Arg)
c.3009T>A (p.Ser1003Arg)
c.3000T>A (p.Ser1000Arg)
c.2961T>A (p.Ser987Arg)
c.2907T>A (p.Ser969Arg)
c.2811T>A (p.Ser937Arg)
c.2781T>A (p.Ser927Arg)
c.2706T>A (p.Ser902Arg)
c.2604T>A (p.Ser868Arg)
c.2235T>A (p.Ser745Arg)
 ClinVar dbSNP COSMIC
5g.112838678T>CCA445963166APCc.2749T>C (n.2749T>C)
c.3138T>C (p.Ser1046=)
c.*3090T>C (n.*3090T>C)
c.3030T>C (p.Ser1010=)
c.3084T>C (p.Ser1028=)
c.1437T>C
c.*2406T>C (n.*2406T>C)
c.230+9706T>C
c.3114T>C (p.Ser1038=)
c.3009T>C (p.Ser1003=)
c.3000T>C (p.Ser1000=)
c.2961T>C (p.Ser987=)
c.2907T>C (p.Ser969=)
c.2811T>C (p.Ser937=)
c.2781T>C (p.Ser927=)
c.2706T>C (p.Ser902=)
c.2604T>C (p.Ser868=)
c.2235T>C (p.Ser745=)
 ClinVar dbSNP
5g.112838678T>GCA16028087APCc.2749T>G (n.2749T>G)
c.3138T>G (p.Ser1046Arg)
c.*3090T>G (n.*3090T>G)
c.3030T>G (p.Ser1010Arg)
c.3084T>G (p.Ser1028Arg)
c.1437T>G
c.*2406T>G (n.*2406T>G)
c.230+9706T>G
c.3114T>G (p.Ser1038Arg)
c.3009T>G (p.Ser1003Arg)
c.3000T>G (p.Ser1000Arg)
c.2961T>G (p.Ser987Arg)
c.2907T>G (p.Ser969Arg)
c.2811T>G (p.Ser937Arg)
c.2781T>G (p.Ser927Arg)
c.2706T>G (p.Ser902Arg)
c.2604T>G (p.Ser868Arg)
c.2235T>G (p.Ser745Arg)
 ClinVar dbSNP
5g.112838678T=CA1573485909APCc.2749T= (n.2749T=)
c.3138T= (p.Ser1046=)
c.*3090T= (n.*3090T=)
c.3030T= (p.Ser1010=)
c.3084T= (p.Ser1028=)
c.1437T=
c.*2406T= (n.*2406T=)
c.230+9706T=
c.3114T= (p.Ser1038=)
c.3009T= (p.Ser1003=)
c.3000T= (p.Ser1000=)
c.2961T= (p.Ser987=)
c.2907T= (p.Ser969=)
c.2811T= (p.Ser937=)
c.2781T= (p.Ser927=)
c.2706T= (p.Ser902=)
c.2604T= (p.Ser868=)
c.2235T= (p.Ser745=)
5g.112838679C>ACA16028088APCc.2750C>A (n.2750C>A)
c.3139C>A (p.Leu1047Ile)
c.*3091C>A (n.*3091C>A)
c.3031C>A (p.Leu1011Ile)
c.3085C>A (p.Leu1029Ile)
c.1438C>A
c.*2407C>A (n.*2407C>A)
c.230+9707C>A
c.3115C>A (p.Leu1039Ile)
c.3010C>A (p.Leu1004Ile)
c.3001C>A (p.Leu1001Ile)
c.2962C>A (p.Leu988Ile)
c.2908C>A (p.Leu970Ile)
c.2812C>A (p.Leu938Ile)
c.2782C>A (p.Leu928Ile)
c.2707C>A (p.Leu903Ile)
c.2605C>A (p.Leu869Ile)
c.2236C>A (p.Leu746Ile)
 ClinVar dbSNP
5g.112838679C>GCA16028089APCc.2750C>G (n.2750C>G)
c.3139C>G (p.Leu1047Val)
c.*3091C>G (n.*3091C>G)
c.3031C>G (p.Leu1011Val)
c.3085C>G (p.Leu1029Val)
c.1438C>G
c.*2407C>G (n.*2407C>G)
c.230+9707C>G
c.3115C>G (p.Leu1039Val)
c.3010C>G (p.Leu1004Val)
c.3001C>G (p.Leu1001Val)
c.2962C>G (p.Leu988Val)
c.2908C>G (p.Leu970Val)
c.2812C>G (p.Leu938Val)
c.2782C>G (p.Leu928Val)
c.2707C>G (p.Leu903Val)
c.2605C>G (p.Leu869Val)
c.2236C>G (p.Leu746Val)
 dbSNP gnomAD v4
5g.112838679C>TCA16028090APCc.2750C>T (n.2750C>T)
c.3139C>T (p.Leu1047Phe)
c.*3091C>T (n.*3091C>T)
c.3031C>T (p.Leu1011Phe)
c.3085C>T (p.Leu1029Phe)
c.1438C>T
c.*2407C>T (n.*2407C>T)
c.230+9707C>T
c.3115C>T (p.Leu1039Phe)
c.3010C>T (p.Leu1004Phe)
c.3001C>T (p.Leu1001Phe)
c.2962C>T (p.Leu988Phe)
c.2908C>T (p.Leu970Phe)
c.2812C>T (p.Leu938Phe)
c.2782C>T (p.Leu928Phe)
c.2707C>T (p.Leu903Phe)
c.2605C>T (p.Leu869Phe)
c.2236C>T (p.Leu746Phe)
 dbSNP
5g.112838680T>ACA16028091APCc.2751T>A (n.2751T>A)
c.3140T>A (p.Leu1047His)
c.*3092T>A (n.*3092T>A)
c.3032T>A (p.Leu1011His)
c.3086T>A (p.Leu1029His)
c.1439T>A
c.*2408T>A (n.*2408T>A)
c.230+9708T>A
c.3116T>A (p.Leu1039His)
c.3011T>A (p.Leu1004His)
c.3002T>A (p.Leu1001His)
c.2963T>A (p.Leu988His)
c.2909T>A (p.Leu970His)
c.2813T>A (p.Leu938His)
c.2783T>A (p.Leu928His)
c.2708T>A (p.Leu903His)
c.2606T>A (p.Leu869His)
c.2237T>A (p.Leu746His)
 dbSNP
5g.112838680T>CCA16028092APCc.2751T>C (n.2751T>C)
c.3140T>C (p.Leu1047Pro)
c.*3092T>C (n.*3092T>C)
c.3032T>C (p.Leu1011Pro)
c.3086T>C (p.Leu1029Pro)
c.1439T>C
c.*2408T>C (n.*2408T>C)
c.230+9708T>C
c.3116T>C (p.Leu1039Pro)
c.3011T>C (p.Leu1004Pro)
c.3002T>C (p.Leu1001Pro)
c.2963T>C (p.Leu988Pro)
c.2909T>C (p.Leu970Pro)
c.2813T>C (p.Leu938Pro)
c.2783T>C (p.Leu928Pro)
c.2708T>C (p.Leu903Pro)
c.2606T>C (p.Leu869Pro)
c.2237T>C (p.Leu746Pro)
5g.112838680T>GCA16028093APCc.2751T>G (n.2751T>G)
c.3140T>G (p.Leu1047Arg)
c.*3092T>G (n.*3092T>G)
c.3032T>G (p.Leu1011Arg)
c.3086T>G (p.Leu1029Arg)
c.1439T>G
c.*2408T>G (n.*2408T>G)
c.230+9708T>G
c.3116T>G (p.Leu1039Arg)
c.3011T>G (p.Leu1004Arg)
c.3002T>G (p.Leu1001Arg)
c.2963T>G (p.Leu988Arg)
c.2909T>G (p.Leu970Arg)
c.2813T>G (p.Leu938Arg)
c.2783T>G (p.Leu928Arg)
c.2708T>G (p.Leu903Arg)
c.2606T>G (p.Leu869Arg)
c.2237T>G (p.Leu746Arg)
 ClinVar dbSNP
5g.112838680_112838681delCA2582341484APCc.2751_2752del (n.2751_2752del)
c.3140_3141del (p.Leu1047GlnfsTer5)
c.*3092_*3093del (n.*3092_*3093del)
c.3032_3033del (p.Leu1011GlnfsTer5)
c.3086_3087del (p.Leu1029GlnfsTer5)
c.1439_1440del
c.*2408_*2409del (n.*2408_*2409del)
c.230+9708_230+9709del
c.3116_3117del (p.Leu1039GlnfsTer5)
c.3011_3012del (p.Leu1004GlnfsTer5)
c.3002_3003del (p.Leu1001GlnfsTer5)
c.2963_2964del (p.Leu988GlnfsTer5)
c.2909_2910del (p.Leu970GlnfsTer5)
c.2813_2814del (p.Leu938GlnfsTer5)
c.2783_2784del (p.Leu928GlnfsTer5)
c.2708_2709del (p.Leu903GlnfsTer5)
c.2606_2607del (p.Leu869GlnfsTer5)
c.2237_2238del (p.Leu746GlnfsTer5)
 ClinVar
5g.112838681T>ACA445963167APCc.2752T>A (n.2752T>A)
c.3141T>A (p.Leu1047=)
c.*3093T>A (n.*3093T>A)
c.3033T>A (p.Leu1011=)
c.3087T>A (p.Leu1029=)
c.1440T>A
c.*2409T>A (n.*2409T>A)
c.230+9709T>A
c.3117T>A (p.Leu1039=)
c.3012T>A (p.Leu1004=)
c.3003T>A (p.Leu1001=)
c.2964T>A (p.Leu988=)
c.2910T>A (p.Leu970=)
c.2814T>A (p.Leu938=)
c.2784T>A (p.Leu928=)
c.2709T>A (p.Leu903=)
c.2607T>A (p.Leu869=)
c.2238T>A (p.Leu746=)
5g.112838681T>CCA445963169APCc.2752T>C (n.2752T>C)
c.3141T>C (p.Leu1047=)
c.*3093T>C (n.*3093T>C)
c.3033T>C (p.Leu1011=)
c.3087T>C (p.Leu1029=)
c.1440T>C
c.*2409T>C (n.*2409T>C)
c.230+9709T>C
c.3117T>C (p.Leu1039=)
c.3012T>C (p.Leu1004=)
c.3003T>C (p.Leu1001=)
c.2964T>C (p.Leu988=)
c.2910T>C (p.Leu970=)
c.2814T>C (p.Leu938=)
c.2784T>C (p.Leu928=)
c.2709T>C (p.Leu903=)
c.2607T>C (p.Leu869=)
c.2238T>C (p.Leu746=)
 ClinVar
5g.112838681T>GCA445963168APCc.2752T>G (n.2752T>G)
c.3141T>G (p.Leu1047=)
c.*3093T>G (n.*3093T>G)
c.3033T>G (p.Leu1011=)
c.3087T>G (p.Leu1029=)
c.1440T>G
c.*2409T>G (n.*2409T>G)
c.230+9709T>G
c.3117T>G (p.Leu1039=)
c.3012T>G (p.Leu1004=)
c.3003T>G (p.Leu1001=)
c.2964T>G (p.Leu988=)
c.2910T>G (p.Leu970=)
c.2814T>G (p.Leu938=)
c.2784T>G (p.Leu928=)
c.2709T>G (p.Leu903=)
c.2607T>G (p.Leu869=)
c.2238T>G (p.Leu746=)
 COSMIC
5g.112838681T=CA1573485925APCc.2752T= (n.2752T=)
c.3141T= (p.Leu1047=)
c.*3093T= (n.*3093T=)
c.3033T= (p.Leu1011=)
c.3087T= (p.Leu1029=)
c.1440T=
c.*2409T= (n.*2409T=)
c.230+9709T=
c.3117T= (p.Leu1039=)
c.3012T= (p.Leu1004=)
c.3003T= (p.Leu1001=)
c.2964T= (p.Leu988=)
c.2910T= (p.Leu970=)
c.2814T= (p.Leu938=)
c.2784T= (p.Leu928=)
c.2709T= (p.Leu903=)
c.2607T= (p.Leu869=)
c.2238T= (p.Leu746=)
5g.112838682A=CA1573485933APCc.2753A= (n.2753A=)
c.3142A= (p.Lys1048=)
c.*3094A= (n.*3094A=)
c.3034A= (p.Lys1012=)
c.3088A= (p.Lys1030=)
c.1441A=
c.*2410A= (n.*2410A=)
c.230+9710A=
c.3118A= (p.Lys1040=)
c.3013A= (p.Lys1005=)
c.3004A= (p.Lys1002=)
c.2965A= (p.Lys989=)
c.2911A= (p.Lys971=)
c.2815A= (p.Lys939=)
c.2785A= (p.Lys929=)
c.2710A= (p.Lys904=)
c.2608A= (p.Lys870=)
c.2239A= (p.Lys747=)
5g.112838682A>CCA16028094APCc.2753A>C (n.2753A>C)
c.3142A>C (p.Lys1048Gln)
c.*3094A>C (n.*3094A>C)
c.3034A>C (p.Lys1012Gln)
c.3088A>C (p.Lys1030Gln)
c.1441A>C
c.*2410A>C (n.*2410A>C)
c.230+9710A>C
c.3118A>C (p.Lys1040Gln)
c.3013A>C (p.Lys1005Gln)
c.3004A>C (p.Lys1002Gln)
c.2965A>C (p.Lys989Gln)
c.2911A>C (p.Lys971Gln)
c.2815A>C (p.Lys939Gln)
c.2785A>C (p.Lys929Gln)
c.2710A>C (p.Lys904Gln)
c.2608A>C (p.Lys870Gln)
c.2239A>C (p.Lys747Gln)
 ClinVar dbSNP
5g.112838682A>GCA16028095APCc.2753A>G (n.2753A>G)
c.3142A>G (p.Lys1048Glu)
c.*3094A>G (n.*3094A>G)
c.3034A>G (p.Lys1012Glu)
c.3088A>G (p.Lys1030Glu)
c.1441A>G
c.*2410A>G (n.*2410A>G)
c.230+9710A>G
c.3118A>G (p.Lys1040Glu)
c.3013A>G (p.Lys1005Glu)
c.3004A>G (p.Lys1002Glu)
c.2965A>G (p.Lys989Glu)
c.2911A>G (p.Lys971Glu)
c.2815A>G (p.Lys939Glu)
c.2785A>G (p.Lys929Glu)
c.2710A>G (p.Lys904Glu)
c.2608A>G (p.Lys870Glu)
c.2239A>G (p.Lys747Glu)
 dbSNP
5g.112838682A>TCA008039APCc.2753A>T (n.2753A>T)
c.3142A>T (p.Lys1048Ter)
c.*3094A>T (n.*3094A>T)
c.3034A>T (p.Lys1012Ter)
c.3088A>T (p.Lys1030Ter)
c.1441A>T
c.*2410A>T (n.*2410A>T)
c.230+9710A>T
c.3118A>T (p.Lys1040Ter)
c.3013A>T (p.Lys1005Ter)
c.3004A>T (p.Lys1002Ter)
c.2965A>T (p.Lys989Ter)
c.2911A>T (p.Lys971Ter)
c.2815A>T (p.Lys939Ter)
c.2785A>T (p.Lys929Ter)
c.2710A>T (p.Lys904Ter)
c.2608A>T (p.Lys870Ter)
c.2239A>T (p.Lys747Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112838684dupCA658655908APCc.2755dup (n.2755dup)
c.3144dup (p.Tyr1049IlefsTer4)
c.*3096dup (n.*3096dup)
c.3036dup (p.Tyr1013IlefsTer4)
c.3090dup (p.Tyr1031IlefsTer4)
c.1443dup
c.*2412dup (n.*2412dup)
c.230+9712dup
c.3120dup (p.Tyr1041IlefsTer4)
c.3015dup (p.Tyr1006IlefsTer4)
c.3006dup (p.Tyr1003IlefsTer4)
c.2967dup (p.Tyr990IlefsTer4)
c.2913dup (p.Tyr972IlefsTer4)
c.2817dup (p.Tyr940IlefsTer4)
c.2787dup (p.Tyr930IlefsTer4)
c.2712dup (p.Tyr905IlefsTer4)
c.2610dup (p.Tyr871IlefsTer4)
c.2241dup (p.Tyr748IlefsTer4)
 ClinVar dbSNP
5g.112838683A>CCA16028096APCc.2754A>C (n.2754A>C)
c.3143A>C (p.Lys1048Thr)
c.*3095A>C (n.*3095A>C)
c.3035A>C (p.Lys1012Thr)
c.3089A>C (p.Lys1030Thr)
c.1442A>C
c.*2411A>C (n.*2411A>C)
c.230+9711A>C
c.3119A>C (p.Lys1040Thr)
c.3014A>C (p.Lys1005Thr)
c.3005A>C (p.Lys1002Thr)
c.2966A>C (p.Lys989Thr)
c.2912A>C (p.Lys971Thr)
c.2816A>C (p.Lys939Thr)
c.2786A>C (p.Lys929Thr)
c.2711A>C (p.Lys904Thr)
c.2609A>C (p.Lys870Thr)
c.2240A>C (p.Lys747Thr)
5g.112838683A>GCA16028097APCc.2754A>G (n.2754A>G)
c.3143A>G (p.Lys1048Arg)
c.*3095A>G (n.*3095A>G)
c.3035A>G (p.Lys1012Arg)
c.3089A>G (p.Lys1030Arg)
c.1442A>G
c.*2411A>G (n.*2411A>G)
c.230+9711A>G
c.3119A>G (p.Lys1040Arg)
c.3014A>G (p.Lys1005Arg)
c.3005A>G (p.Lys1002Arg)
c.2966A>G (p.Lys989Arg)
c.2912A>G (p.Lys971Arg)
c.2816A>G (p.Lys939Arg)
c.2786A>G (p.Lys929Arg)
c.2711A>G (p.Lys904Arg)
c.2609A>G (p.Lys870Arg)
c.2240A>G (p.Lys747Arg)
5g.112838683A>TCA16028098APCc.2754A>T (n.2754A>T)
c.3143A>T (p.Lys1048Ile)
c.*3095A>T (n.*3095A>T)
c.3035A>T (p.Lys1012Ile)
c.3089A>T (p.Lys1030Ile)
c.1442A>T
c.*2411A>T (n.*2411A>T)
c.230+9711A>T
c.3119A>T (p.Lys1040Ile)
c.3014A>T (p.Lys1005Ile)
c.3005A>T (p.Lys1002Ile)
c.2966A>T (p.Lys989Ile)
c.2912A>T (p.Lys971Ile)
c.2816A>T (p.Lys939Ile)
c.2786A>T (p.Lys929Ile)
c.2711A>T (p.Lys904Ile)
c.2609A>T (p.Lys870Ile)
c.2240A>T (p.Lys747Ile)
 dbSNP
5g.112838684A>CCA16028099APCc.2755A>C (n.2755A>C)
c.3144A>C (p.Lys1048Asn)
c.*3096A>C (n.*3096A>C)
c.3036A>C (p.Lys1012Asn)
c.3090A>C (p.Lys1030Asn)
c.1443A>C
c.*2412A>C (n.*2412A>C)
c.230+9712A>C
c.3120A>C (p.Lys1040Asn)
c.3015A>C (p.Lys1005Asn)
c.3006A>C (p.Lys1002Asn)
c.2967A>C (p.Lys989Asn)
c.2913A>C (p.Lys971Asn)
c.2817A>C (p.Lys939Asn)
c.2787A>C (p.Lys929Asn)
c.2712A>C (p.Lys904Asn)
c.2610A>C (p.Lys870Asn)
c.2241A>C (p.Lys747Asn)
5g.112838684A>GCA445963170APCc.2755A>G (n.2755A>G)
c.3144A>G (p.Lys1048=)
c.*3096A>G (n.*3096A>G)
c.3036A>G (p.Lys1012=)
c.3090A>G (p.Lys1030=)
c.1443A>G
c.*2412A>G (n.*2412A>G)
c.230+9712A>G
c.3120A>G (p.Lys1040=)
c.3015A>G (p.Lys1005=)
c.3006A>G (p.Lys1002=)
c.2967A>G (p.Lys989=)
c.2913A>G (p.Lys971=)
c.2817A>G (p.Lys939=)
c.2787A>G (p.Lys929=)
c.2712A>G (p.Lys904=)
c.2610A>G (p.Lys870=)
c.2241A>G (p.Lys747=)
 dbSNP
5g.112838684A>TCA16028100APCc.2755A>T (n.2755A>T)
c.3144A>T (p.Lys1048Asn)
c.*3096A>T (n.*3096A>T)
c.3036A>T (p.Lys1012Asn)
c.3090A>T (p.Lys1030Asn)
c.1443A>T
c.*2412A>T (n.*2412A>T)
c.230+9712A>T
c.3120A>T (p.Lys1040Asn)
c.3015A>T (p.Lys1005Asn)
c.3006A>T (p.Lys1002Asn)
c.2967A>T (p.Lys989Asn)
c.2913A>T (p.Lys971Asn)
c.2817A>T (p.Lys939Asn)
c.2787A>T (p.Lys929Asn)
c.2712A>T (p.Lys904Asn)
c.2610A>T (p.Lys870Asn)
c.2241A>T (p.Lys747Asn)
 ClinVar dbSNP
5g.112838686_112838687dupCA2838033010APCc.2757_2758dup (n.2757_2758dup)
c.3146_3147dup (p.Ser1050IlefsTer6)
c.*3098_*3099dup (n.*3098_*3099dup)
c.3038_3039dup (p.Ser1014IlefsTer6)
c.3092_3093dup (p.Ser1032IlefsTer6)
c.1445_1446dup
c.*2414_*2415dup (n.*2414_*2415dup)
c.230+9714_230+9715dup
c.3122_3123dup (p.Ser1042IlefsTer6)
c.3017_3018dup (p.Ser1007IlefsTer6)
c.3008_3009dup (p.Ser1004IlefsTer6)
c.2969_2970dup (p.Ser991IlefsTer6)
c.2915_2916dup (p.Ser973IlefsTer6)
c.2819_2820dup (p.Ser941IlefsTer6)
c.2789_2790dup (p.Ser931IlefsTer6)
c.2714_2715dup (p.Ser906IlefsTer6)
c.2612_2613dup (p.Ser872IlefsTer6)
c.2243_2244dup (p.Ser749IlefsTer6)
5g.112838685delCA2695204887APCc.2756del (n.2756del)
c.3145del (p.Tyr1049IlefsTer6)
c.*3097del (n.*3097del)
c.3037del (p.Tyr1013IlefsTer6)
c.3091del (p.Tyr1031IlefsTer6)
c.1444del
c.*2413del (n.*2413del)
c.230+9713del
c.3121del (p.Tyr1041IlefsTer6)
c.3016del (p.Tyr1006IlefsTer6)
c.3007del (p.Tyr1003IlefsTer6)
c.2968del (p.Tyr990IlefsTer6)
c.2914del (p.Tyr972IlefsTer6)
c.2818del (p.Tyr940IlefsTer6)
c.2788del (p.Tyr930IlefsTer6)
c.2713del (p.Tyr905IlefsTer6)
c.2611del (p.Tyr871IlefsTer6)
c.2242del (p.Tyr748IlefsTer6)
5g.112838685T>ACA16028101APCc.2756T>A (n.2756T>A)
c.3145T>A (p.Tyr1049Asn)
c.*3097T>A (n.*3097T>A)
c.3037T>A (p.Tyr1013Asn)
c.3091T>A (p.Tyr1031Asn)
c.1444T>A
c.*2413T>A (n.*2413T>A)
c.230+9713T>A
c.3121T>A (p.Tyr1041Asn)
c.3016T>A (p.Tyr1006Asn)
c.3007T>A (p.Tyr1003Asn)
c.2968T>A (p.Tyr990Asn)
c.2914T>A (p.Tyr972Asn)
c.2818T>A (p.Tyr940Asn)
c.2788T>A (p.Tyr930Asn)
c.2713T>A (p.Tyr905Asn)
c.2611T>A (p.Tyr871Asn)
c.2242T>A (p.Tyr748Asn)
 dbSNP
5g.112838685T>CCA16028102APCc.2756T>C (n.2756T>C)
c.3145T>C (p.Tyr1049His)
c.*3097T>C (n.*3097T>C)
c.3037T>C (p.Tyr1013His)
c.3091T>C (p.Tyr1031His)
c.1444T>C
c.*2413T>C (n.*2413T>C)
c.230+9713T>C
c.3121T>C (p.Tyr1041His)
c.3016T>C (p.Tyr1006His)
c.3007T>C (p.Tyr1003His)
c.2968T>C (p.Tyr990His)
c.2914T>C (p.Tyr972His)
c.2818T>C (p.Tyr940His)
c.2788T>C (p.Tyr930His)
c.2713T>C (p.Tyr905His)
c.2611T>C (p.Tyr871His)
c.2242T>C (p.Tyr748His)
 dbSNP
5g.112838685T>GCA16028103APCc.2756T>G (n.2756T>G)
c.3145T>G (p.Tyr1049Asp)
c.*3097T>G (n.*3097T>G)
c.3037T>G (p.Tyr1013Asp)
c.3091T>G (p.Tyr1031Asp)
c.1444T>G
c.*2413T>G (n.*2413T>G)
c.230+9713T>G
c.3121T>G (p.Tyr1041Asp)
c.3016T>G (p.Tyr1006Asp)
c.3007T>G (p.Tyr1003Asp)
c.2968T>G (p.Tyr990Asp)
c.2914T>G (p.Tyr972Asp)
c.2818T>G (p.Tyr940Asp)
c.2788T>G (p.Tyr930Asp)
c.2713T>G (p.Tyr905Asp)
c.2611T>G (p.Tyr871Asp)
c.2242T>G (p.Tyr748Asp)
5g.112838686A>CCA16028104APCc.2757A>C (n.2757A>C)
c.3146A>C (p.Tyr1049Ser)
c.*3098A>C (n.*3098A>C)
c.3038A>C (p.Tyr1013Ser)
c.3092A>C (p.Tyr1031Ser)
c.1445A>C
c.*2414A>C (n.*2414A>C)
c.230+9714A>C
c.3122A>C (p.Tyr1041Ser)
c.3017A>C (p.Tyr1006Ser)
c.3008A>C (p.Tyr1003Ser)
c.2969A>C (p.Tyr990Ser)
c.2915A>C (p.Tyr972Ser)
c.2819A>C (p.Tyr940Ser)
c.2789A>C (p.Tyr930Ser)
c.2714A>C (p.Tyr905Ser)
c.2612A>C (p.Tyr871Ser)
c.2243A>C (p.Tyr748Ser)
 dbSNP
5g.112838686A>GCA16028105APCc.2757A>G (n.2757A>G)
c.3146A>G (p.Tyr1049Cys)
c.*3098A>G (n.*3098A>G)
c.3038A>G (p.Tyr1013Cys)
c.3092A>G (p.Tyr1031Cys)
c.1445A>G
c.*2414A>G (n.*2414A>G)
c.230+9714A>G
c.3122A>G (p.Tyr1041Cys)
c.3017A>G (p.Tyr1006Cys)
c.3008A>G (p.Tyr1003Cys)
c.2969A>G (p.Tyr990Cys)
c.2915A>G (p.Tyr972Cys)
c.2819A>G (p.Tyr940Cys)
c.2789A>G (p.Tyr930Cys)
c.2714A>G (p.Tyr905Cys)
c.2612A>G (p.Tyr871Cys)
c.2243A>G (p.Tyr748Cys)
 ClinVar dbSNP
5g.112838686A>TCA16028106APCc.2757A>T (n.2757A>T)
c.3146A>T (p.Tyr1049Phe)
c.*3098A>T (n.*3098A>T)
c.3038A>T (p.Tyr1013Phe)
c.3092A>T (p.Tyr1031Phe)
c.1445A>T
c.*2414A>T (n.*2414A>T)
c.230+9714A>T
c.3122A>T (p.Tyr1041Phe)
c.3017A>T (p.Tyr1006Phe)
c.3008A>T (p.Tyr1003Phe)
c.2969A>T (p.Tyr990Phe)
c.2915A>T (p.Tyr972Phe)
c.2819A>T (p.Tyr940Phe)
c.2789A>T (p.Tyr930Phe)
c.2714A>T (p.Tyr905Phe)
c.2612A>T (p.Tyr871Phe)
c.2243A>T (p.Tyr748Phe)
 dbSNP
5g.112838687T>ACA16028107APCc.2758T>A (n.2758T>A)
c.3147T>A (p.Tyr1049Ter)
c.*3099T>A (n.*3099T>A)
c.3039T>A (p.Tyr1013Ter)
c.3093T>A (p.Tyr1031Ter)
c.1446T>A
c.*2415T>A (n.*2415T>A)
c.230+9715T>A
c.3123T>A (p.Tyr1041Ter)
c.3018T>A (p.Tyr1006Ter)
c.3009T>A (p.Tyr1003Ter)
c.2970T>A (p.Tyr990Ter)
c.2916T>A (p.Tyr972Ter)
c.2820T>A (p.Tyr940Ter)
c.2790T>A (p.Tyr930Ter)
c.2715T>A (p.Tyr905Ter)
c.2613T>A (p.Tyr871Ter)
c.2244T>A (p.Tyr748Ter)
 dbSNP COSMIC
5g.112838687T>CCA445963171APCc.2758T>C (n.2758T>C)
c.3147T>C (p.Tyr1049=)
c.*3099T>C (n.*3099T>C)
c.3039T>C (p.Tyr1013=)
c.3093T>C (p.Tyr1031=)
c.1446T>C
c.*2415T>C (n.*2415T>C)
c.230+9715T>C
c.3123T>C (p.Tyr1041=)
c.3018T>C (p.Tyr1006=)
c.3009T>C (p.Tyr1003=)
c.2970T>C (p.Tyr990=)
c.2916T>C (p.Tyr972=)
c.2820T>C (p.Tyr940=)
c.2790T>C (p.Tyr930=)
c.2715T>C (p.Tyr905=)
c.2613T>C (p.Tyr871=)
c.2244T>C (p.Tyr748=)
 dbSNP gnomAD v4
5g.112838687T>GCA16028108APCc.2758T>G (n.2758T>G)
c.3147T>G (p.Tyr1049Ter)
c.*3099T>G (n.*3099T>G)
c.3039T>G (p.Tyr1013Ter)
c.3093T>G (p.Tyr1031Ter)
c.1446T>G
c.*2415T>G (n.*2415T>G)
c.230+9715T>G
c.3123T>G (p.Tyr1041Ter)
c.3018T>G (p.Tyr1006Ter)
c.3009T>G (p.Tyr1003Ter)
c.2970T>G (p.Tyr990Ter)
c.2916T>G (p.Tyr972Ter)
c.2820T>G (p.Tyr940Ter)
c.2790T>G (p.Tyr930Ter)
c.2715T>G (p.Tyr905Ter)
c.2613T>G (p.Tyr871Ter)
c.2244T>G (p.Tyr748Ter)
 ClinVar COSMIC
5g.112838688T>ACA16028109APCc.2759T>A (n.2759T>A)
c.3148T>A (p.Ser1050Thr)
c.*3100T>A (n.*3100T>A)
c.3040T>A (p.Ser1014Thr)
c.3094T>A (p.Ser1032Thr)
c.1447T>A
c.*2416T>A (n.*2416T>A)
c.230+9716T>A
c.3124T>A (p.Ser1042Thr)
c.3019T>A (p.Ser1007Thr)
c.3010T>A (p.Ser1004Thr)
c.2971T>A (p.Ser991Thr)
c.2917T>A (p.Ser973Thr)
c.2821T>A (p.Ser941Thr)
c.2791T>A (p.Ser931Thr)
c.2716T>A (p.Ser906Thr)
c.2614T>A (p.Ser872Thr)
c.2245T>A (p.Ser749Thr)
 dbSNP
5g.112838688T>CCA16028110APCc.2759T>C (n.2759T>C)
c.3148T>C (p.Ser1050Pro)
c.*3100T>C (n.*3100T>C)
c.3040T>C (p.Ser1014Pro)
c.3094T>C (p.Ser1032Pro)
c.1447T>C
c.*2416T>C (n.*2416T>C)
c.230+9716T>C
c.3124T>C (p.Ser1042Pro)
c.3019T>C (p.Ser1007Pro)
c.3010T>C (p.Ser1004Pro)
c.2971T>C (p.Ser991Pro)
c.2917T>C (p.Ser973Pro)
c.2821T>C (p.Ser941Pro)
c.2791T>C (p.Ser931Pro)
c.2716T>C (p.Ser906Pro)
c.2614T>C (p.Ser872Pro)
c.2245T>C (p.Ser749Pro)
 dbSNP
5g.112838688T>GCA16028111APCc.2759T>G (n.2759T>G)
c.3148T>G (p.Ser1050Ala)
c.*3100T>G (n.*3100T>G)
c.3040T>G (p.Ser1014Ala)
c.3094T>G (p.Ser1032Ala)
c.1447T>G
c.*2416T>G (n.*2416T>G)
c.230+9716T>G
c.3124T>G (p.Ser1042Ala)
c.3019T>G (p.Ser1007Ala)
c.3010T>G (p.Ser1004Ala)
c.2971T>G (p.Ser991Ala)
c.2917T>G (p.Ser973Ala)
c.2821T>G (p.Ser941Ala)
c.2791T>G (p.Ser931Ala)
c.2716T>G (p.Ser906Ala)
c.2614T>G (p.Ser872Ala)
c.2245T>G (p.Ser749Ala)
5g.112838689C>ACA16028112APCc.2760C>A (n.2760C>A)
c.3149C>A (p.Ser1050Ter)
c.*3101C>A (n.*3101C>A)
c.3041C>A (p.Ser1014Ter)
c.3095C>A (p.Ser1032Ter)
c.1448C>A
c.*2417C>A (n.*2417C>A)
c.230+9717C>A
c.3125C>A (p.Ser1042Ter)
c.3020C>A (p.Ser1007Ter)
c.3011C>A (p.Ser1004Ter)
c.2972C>A (p.Ser991Ter)
c.2918C>A (p.Ser973Ter)
c.2822C>A (p.Ser941Ter)
c.2792C>A (p.Ser931Ter)
c.2717C>A (p.Ser906Ter)
c.2615C>A (p.Ser872Ter)
c.2246C>A (p.Ser749Ter)
 dbSNP
5g.112838689C>GCA16028113APCc.2760C>G (n.2760C>G)
c.3149C>G (p.Ser1050Ter)
c.*3101C>G (n.*3101C>G)
c.3041C>G (p.Ser1014Ter)
c.3095C>G (p.Ser1032Ter)
c.1448C>G
c.*2417C>G (n.*2417C>G)
c.230+9717C>G
c.3125C>G (p.Ser1042Ter)
c.3020C>G (p.Ser1007Ter)
c.3011C>G (p.Ser1004Ter)
c.2972C>G (p.Ser991Ter)
c.2918C>G (p.Ser973Ter)
c.2822C>G (p.Ser941Ter)
c.2792C>G (p.Ser931Ter)
c.2717C>G (p.Ser906Ter)
c.2615C>G (p.Ser872Ter)
c.2246C>G (p.Ser749Ter)
 ClinVar dbSNP COSMIC
5g.112838689C>TCA16028114APCc.2760C>T (n.2760C>T)
c.3149C>T (p.Ser1050Leu)
c.*3101C>T (n.*3101C>T)
c.3041C>T (p.Ser1014Leu)
c.3095C>T (p.Ser1032Leu)
c.1448C>T
c.*2417C>T (n.*2417C>T)
c.230+9717C>T
c.3125C>T (p.Ser1042Leu)
c.3020C>T (p.Ser1007Leu)
c.3011C>T (p.Ser1004Leu)
c.2972C>T (p.Ser991Leu)
c.2918C>T (p.Ser973Leu)
c.2822C>T (p.Ser941Leu)
c.2792C>T (p.Ser931Leu)
c.2717C>T (p.Ser906Leu)
c.2615C>T (p.Ser872Leu)
c.2246C>T (p.Ser749Leu)
 ClinVar dbSNP
5g.112838690delCA2573138670APCc.2761del (n.2761del)
c.3150del (p.Asp1051MetfsTer4)
c.*3102del (n.*3102del)
c.3042del (p.Asp1015MetfsTer4)
c.3096del (p.Asp1033MetfsTer4)
c.1449del
c.*2418del (n.*2418del)
c.230+9718del
c.3126del (p.Asp1043MetfsTer4)
c.3021del (p.Asp1008MetfsTer4)
c.3012del (p.Asp1005MetfsTer4)
c.2973del (p.Asp992MetfsTer4)
c.2919del (p.Asp974MetfsTer4)
c.2823del (p.Asp942MetfsTer4)
c.2793del (p.Asp932MetfsTer4)
c.2718del (p.Asp907MetfsTer4)
c.2616del (p.Asp873MetfsTer4)
c.2247del (p.Asp750MetfsTer4)
 ClinVar dbSNP
5g.112838690A>CCA445963172APCc.2761A>C (n.2761A>C)
c.3150A>C (p.Ser1050=)
c.*3102A>C (n.*3102A>C)
c.3042A>C (p.Ser1014=)
c.3096A>C (p.Ser1032=)
c.1449A>C
c.*2418A>C (n.*2418A>C)
c.230+9718A>C
c.3126A>C (p.Ser1042=)
c.3021A>C (p.Ser1007=)
c.3012A>C (p.Ser1004=)
c.2973A>C (p.Ser991=)
c.2919A>C (p.Ser973=)
c.2823A>C (p.Ser941=)
c.2793A>C (p.Ser931=)
c.2718A>C (p.Ser906=)
c.2616A>C (p.Ser872=)
c.2247A>C (p.Ser749=)
5g.112838690A>GCA445963173APCc.2761A>G (n.2761A>G)
c.3150A>G (p.Ser1050=)
c.*3102A>G (n.*3102A>G)
c.3042A>G (p.Ser1014=)
c.3096A>G (p.Ser1032=)
c.1449A>G
c.*2418A>G (n.*2418A>G)
c.230+9718A>G
c.3126A>G (p.Ser1042=)
c.3021A>G (p.Ser1007=)
c.3012A>G (p.Ser1004=)
c.2973A>G (p.Ser991=)
c.2919A>G (p.Ser973=)
c.2823A>G (p.Ser941=)
c.2793A>G (p.Ser931=)
c.2718A>G (p.Ser906=)
c.2616A>G (p.Ser872=)
c.2247A>G (p.Ser749=)
 ClinVar dbSNP
5g.112838690A>TCA445963174APCc.2761A>T (n.2761A>T)
c.3150A>T (p.Ser1050=)
c.*3102A>T (n.*3102A>T)
c.3042A>T (p.Ser1014=)
c.3096A>T (p.Ser1032=)
c.1449A>T
c.*2418A>T (n.*2418A>T)
c.230+9718A>T
c.3126A>T (p.Ser1042=)
c.3021A>T (p.Ser1007=)
c.3012A>T (p.Ser1004=)
c.2973A>T (p.Ser991=)
c.2919A>T (p.Ser973=)
c.2823A>T (p.Ser941=)
c.2793A>T (p.Ser931=)
c.2718A>T (p.Ser906=)
c.2616A>T (p.Ser872=)
c.2247A>T (p.Ser749=)
 dbSNP
5g.112838692_112838696delCA2695204888APCc.2763_2767del (n.2763_2767del)
c.3152_3156del (p.Asp1051AlafsTer13)
c.*3104_*3108del (n.*3104_*3108del)
c.3044_3048del (p.Asp1015AlafsTer13)
c.3098_3102del (p.Asp1033AlafsTer13)
c.1451_1455del
c.*2420_*2424del (n.*2420_*2424del)
c.230+9720_230+9724del
c.3128_3132del (p.Asp1043AlafsTer13)
c.3023_3027del (p.Asp1008AlafsTer13)
c.3014_3018del (p.Asp1005AlafsTer13)
c.2975_2979del (p.Asp992AlafsTer13)
c.2921_2925del (p.Asp974AlafsTer13)
c.2825_2829del (p.Asp942AlafsTer13)
c.2795_2799del (p.Asp932AlafsTer13)
c.2720_2724del (p.Asp907AlafsTer13)
c.2618_2622del (p.Asp873AlafsTer13)
c.2249_2253del (p.Asp750AlafsTer13)
5g.112838691G>ACA16028115APCc.2762G>A (n.2762G>A)
c.3151G>A (p.Asp1051Asn)
c.*3103G>A (n.*3103G>A)
c.3043G>A (p.Asp1015Asn)
c.3097G>A (p.Asp1033Asn)
c.1450G>A
c.*2419G>A (n.*2419G>A)
c.230+9719G>A
c.3127G>A (p.Asp1043Asn)
c.3022G>A (p.Asp1008Asn)
c.3013G>A (p.Asp1005Asn)
c.2974G>A (p.Asp992Asn)
c.2920G>A (p.Asp974Asn)
c.2824G>A (p.Asp942Asn)
c.2794G>A (p.Asp932Asn)
c.2719G>A (p.Asp907Asn)
c.2617G>A (p.Asp873Asn)
c.2248G>A (p.Asp750Asn)
 dbSNP
5g.112838691G>CCA16028116APCc.2762G>C (n.2762G>C)
c.3151G>C (p.Asp1051His)
c.*3103G>C (n.*3103G>C)
c.3043G>C (p.Asp1015His)
c.3097G>C (p.Asp1033His)
c.1450G>C
c.*2419G>C (n.*2419G>C)
c.230+9719G>C
c.3127G>C (p.Asp1043His)
c.3022G>C (p.Asp1008His)
c.3013G>C (p.Asp1005His)
c.2974G>C (p.Asp992His)
c.2920G>C (p.Asp974His)
c.2824G>C (p.Asp942His)
c.2794G>C (p.Asp932His)
c.2719G>C (p.Asp907His)
c.2617G>C (p.Asp873His)
c.2248G>C (p.Asp750His)
 ClinVar dbSNP
5g.112838691G=CA1573485947APCc.2762G= (n.2762G=)
c.3151G= (p.Asp1051=)
c.*3103G= (n.*3103G=)
c.3043G= (p.Asp1015=)
c.3097G= (p.Asp1033=)
c.1450G=
c.*2419G= (n.*2419G=)
c.230+9719G=
c.3127G= (p.Asp1043=)
c.3022G= (p.Asp1008=)
c.3013G= (p.Asp1005=)
c.2974G= (p.Asp992=)
c.2920G= (p.Asp974=)
c.2824G= (p.Asp942=)
c.2794G= (p.Asp932=)
c.2719G= (p.Asp907=)
c.2617G= (p.Asp873=)
c.2248G= (p.Asp750=)
5g.112838691G>TCA16028117APCc.2762G>T (n.2762G>T)
c.3151G>T (p.Asp1051Tyr)
c.*3103G>T (n.*3103G>T)
c.3043G>T (p.Asp1015Tyr)
c.3097G>T (p.Asp1033Tyr)
c.1450G>T
c.*2419G>T (n.*2419G>T)
c.230+9719G>T
c.3127G>T (p.Asp1043Tyr)
c.3022G>T (p.Asp1008Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2974G>T (p.Asp992Tyr)
c.2920G>T (p.Asp974Tyr)
c.2824G>T (p.Asp942Tyr)
c.2794G>T (p.Asp932Tyr)
c.2719G>T (p.Asp907Tyr)
c.2617G>T (p.Asp873Tyr)
c.2248G>T (p.Asp750Tyr)
 ClinVar dbSNP
5g.112838692A=CA1573485955APCc.2763A= (n.2763A=)
c.3152A= (p.Asp1051=)
c.*3104A= (n.*3104A=)
c.3044A= (p.Asp1015=)
c.3098A= (p.Asp1033=)
c.1451A=
c.*2420A= (n.*2420A=)
c.230+9720A=
c.3128A= (p.Asp1043=)
c.3023A= (p.Asp1008=)
c.3014A= (p.Asp1005=)
c.2975A= (p.Asp992=)
c.2921A= (p.Asp974=)
c.2825A= (p.Asp942=)
c.2795A= (p.Asp932=)
c.2720A= (p.Asp907=)
c.2618A= (p.Asp873=)
c.2249A= (p.Asp750=)
5g.112838692A>CCA16028118APCc.2763A>C (n.2763A>C)
c.3152A>C (p.Asp1051Ala)
c.*3104A>C (n.*3104A>C)
c.3044A>C (p.Asp1015Ala)
c.3098A>C (p.Asp1033Ala)
c.1451A>C
c.*2420A>C (n.*2420A>C)
c.230+9720A>C
c.3128A>C (p.Asp1043Ala)
c.3023A>C (p.Asp1008Ala)
c.3014A>C (p.Asp1005Ala)
c.2975A>C (p.Asp992Ala)
c.2921A>C (p.Asp974Ala)
c.2825A>C (p.Asp942Ala)
c.2795A>C (p.Asp932Ala)
c.2720A>C (p.Asp907Ala)
c.2618A>C (p.Asp873Ala)
c.2249A>C (p.Asp750Ala)
5g.112838692A>GCA16028119APCc.2763A>G (n.2763A>G)
c.3152A>G (p.Asp1051Gly)
c.*3104A>G (n.*3104A>G)
c.3044A>G (p.Asp1015Gly)
c.3098A>G (p.Asp1033Gly)
c.1451A>G
c.*2420A>G (n.*2420A>G)
c.230+9720A>G
c.3128A>G (p.Asp1043Gly)
c.3023A>G (p.Asp1008Gly)
c.3014A>G (p.Asp1005Gly)
c.2975A>G (p.Asp992Gly)
c.2921A>G (p.Asp974Gly)
c.2825A>G (p.Asp942Gly)
c.2795A>G (p.Asp932Gly)
c.2720A>G (p.Asp907Gly)
c.2618A>G (p.Asp873Gly)
c.2249A>G (p.Asp750Gly)
 dbSNP
5g.112838692A>TCA16028120APCc.2763A>T (n.2763A>T)
c.3152A>T (p.Asp1051Val)
c.*3104A>T (n.*3104A>T)
c.3044A>T (p.Asp1015Val)
c.3098A>T (p.Asp1033Val)
c.1451A>T
c.*2420A>T (n.*2420A>T)
c.230+9720A>T
c.3128A>T (p.Asp1043Val)
c.3023A>T (p.Asp1008Val)
c.3014A>T (p.Asp1005Val)
c.2975A>T (p.Asp992Val)
c.2921A>T (p.Asp974Val)
c.2825A>T (p.Asp942Val)
c.2795A>T (p.Asp932Val)
c.2720A>T (p.Asp907Val)
c.2618A>T (p.Asp873Val)
c.2249A>T (p.Asp750Val)
 dbSNP
5g.112838692_112838701delCA645543552APCc.2763_2772del (n.2763_2772del)
c.3152_3161del (p.Asp1051GlyfsTer20)
c.*3104_*3113del (n.*3104_*3113del)
c.3044_3053del (p.Asp1015GlyfsTer20)
c.3098_3107del (p.Asp1033GlyfsTer20)
c.1451_1460del
c.*2420_*2429del (n.*2420_*2429del)
c.230+9720_230+9729del
c.3128_3137del (p.Asp1043GlyfsTer20)
c.3023_3032del (p.Asp1008GlyfsTer20)
c.3014_3023del (p.Asp1005GlyfsTer20)
c.2975_2984del (p.Asp992GlyfsTer20)
c.2921_2930del (p.Asp974GlyfsTer20)
c.2825_2834del (p.Asp942GlyfsTer20)
c.2795_2804del (p.Asp932GlyfsTer20)
c.2720_2729del (p.Asp907GlyfsTer20)
c.2618_2627del (p.Asp873GlyfsTer20)
c.2249_2258del (p.Asp750GlyfsTer20)
 COSMIC
5g.112838692_112838693insATAGGATTCAATCGAGGGTTCA1573485959APCc.2763_2764insATAGGATTCAATCGAGGGTT (n.2763_2764insATAGGATTCAATCGAGGGTT)
c.3152_3153insATAGGATTCAATCGAGGGTT (p.Asp1051GlufsTer2)
c.*3104_*3105insATAGGATTCAATCGAGGGTT (n.*3104_*3105insATAGGATTCAATCGAGGGTT)
c.3044_3045insATAGGATTCAATCGAGGGTT (p.Asp1015GlufsTer2)
c.3098_3099insATAGGATTCAATCGAGGGTT (p.Asp1033GlufsTer2)
c.1451_1452insATAGGATTCAATCGAGGGTT
c.*2420_*2421insATAGGATTCAATCGAGGGTT (n.*2420_*2421insATAGGATTCAATCGAGGGTT)
c.230+9720_230+9721insATAGGATTCAATCGAGGGTT
c.3128_3129insATAGGATTCAATCGAGGGTT (p.Asp1043GlufsTer2)
c.3023_3024insATAGGATTCAATCGAGGGTT (p.Asp1008GlufsTer2)
c.3014_3015insATAGGATTCAATCGAGGGTT (p.Asp1005GlufsTer2)
c.2975_2976insATAGGATTCAATCGAGGGTT (p.Asp992GlufsTer2)
c.2921_2922insATAGGATTCAATCGAGGGTT (p.Asp974GlufsTer2)
c.2825_2826insATAGGATTCAATCGAGGGTT (p.Asp942GlufsTer2)
c.2795_2796insATAGGATTCAATCGAGGGTT (p.Asp932GlufsTer2)
c.2720_2721insATAGGATTCAATCGAGGGTT (p.Asp907GlufsTer2)
c.2618_2619insATAGGATTCAATCGAGGGTT (p.Asp873GlufsTer2)
c.2249_2250insATAGGATTCAATCGAGGGTT (p.Asp750GlufsTer2)
 dbSNP
5g.112838693T>ACA034409APCc.2764T>A (n.2764T>A)
c.3153T>A (p.Asp1051Glu)
c.*3105T>A (n.*3105T>A)
c.3045T>A (p.Asp1015Glu)
c.3099T>A (p.Asp1033Glu)
c.1452T>A
c.*2421T>A (n.*2421T>A)
c.230+9721T>A
c.3129T>A (p.Asp1043Glu)
c.3024T>A (p.Asp1008Glu)
c.3015T>A (p.Asp1005Glu)
c.2976T>A (p.Asp992Glu)
c.2922T>A (p.Asp974Glu)
c.2826T>A (p.Asp942Glu)
c.2796T>A (p.Asp932Glu)
c.2721T>A (p.Asp907Glu)
c.2619T>A (p.Asp873Glu)
c.2250T>A (p.Asp750Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838693T>CCA445963175APCc.2764T>C (n.2764T>C)
c.3153T>C (p.Asp1051=)
c.*3105T>C (n.*3105T>C)
c.3045T>C (p.Asp1015=)
c.3099T>C (p.Asp1033=)
c.1452T>C
c.*2421T>C (n.*2421T>C)
c.230+9721T>C
c.3129T>C (p.Asp1043=)
c.3024T>C (p.Asp1008=)
c.3015T>C (p.Asp1005=)
c.2976T>C (p.Asp992=)
c.2922T>C (p.Asp974=)
c.2826T>C (p.Asp942=)
c.2796T>C (p.Asp932=)
c.2721T>C (p.Asp907=)
c.2619T>C (p.Asp873=)
c.2250T>C (p.Asp750=)
 ClinVar dbSNP
5g.112838693T>GCA16028121APCc.2764T>G (n.2764T>G)
c.3153T>G (p.Asp1051Glu)
c.*3105T>G (n.*3105T>G)
c.3045T>G (p.Asp1015Glu)
c.3099T>G (p.Asp1033Glu)
c.1452T>G
c.*2421T>G (n.*2421T>G)
c.230+9721T>G
c.3129T>G (p.Asp1043Glu)
c.3024T>G (p.Asp1008Glu)
c.3015T>G (p.Asp1005Glu)
c.2976T>G (p.Asp992Glu)
c.2922T>G (p.Asp974Glu)
c.2826T>G (p.Asp942Glu)
c.2796T>G (p.Asp932Glu)
c.2721T>G (p.Asp907Glu)
c.2619T>G (p.Asp873Glu)
c.2250T>G (p.Asp750Glu)
 ClinVar
5g.112838693T=CA1573485962APCc.2764T= (n.2764T=)
c.3153T= (p.Asp1051=)
c.*3105T= (n.*3105T=)
c.3045T= (p.Asp1015=)
c.3099T= (p.Asp1033=)
c.1452T=
c.*2421T= (n.*2421T=)
c.230+9721T=
c.3129T= (p.Asp1043=)
c.3024T= (p.Asp1008=)
c.3015T= (p.Asp1005=)
c.2976T= (p.Asp992=)
c.2922T= (p.Asp974=)
c.2826T= (p.Asp942=)
c.2796T= (p.Asp932=)
c.2721T= (p.Asp907=)
c.2619T= (p.Asp873=)
c.2250T= (p.Asp750=)
5g.112838694G>ACA16028122APCc.2765G>A (n.2765G>A)
c.3154G>A (p.Glu1052Lys)
c.*3106G>A (n.*3106G>A)
c.3046G>A (p.Glu1016Lys)
c.3100G>A (p.Glu1034Lys)
c.1453G>A
c.*2422G>A (n.*2422G>A)
c.230+9722G>A
c.3130G>A (p.Glu1044Lys)
c.3025G>A (p.Glu1009Lys)
c.3016G>A (p.Glu1006Lys)
c.2977G>A (p.Glu993Lys)
c.2923G>A (p.Glu975Lys)
c.2827G>A (p.Glu943Lys)
c.2797G>A (p.Glu933Lys)
c.2722G>A (p.Glu908Lys)
c.2620G>A (p.Glu874Lys)
c.2251G>A (p.Glu751Lys)
 dbSNP gnomAD v4
5g.112838694G>CCA16028123APCc.2765G>C (n.2765G>C)
c.3154G>C (p.Glu1052Gln)
c.*3106G>C (n.*3106G>C)
c.3046G>C (p.Glu1016Gln)
c.3100G>C (p.Glu1034Gln)
c.1453G>C
c.*2422G>C (n.*2422G>C)
c.230+9722G>C
c.3130G>C (p.Glu1044Gln)
c.3025G>C (p.Glu1009Gln)
c.3016G>C (p.Glu1006Gln)
c.2977G>C (p.Glu993Gln)
c.2923G>C (p.Glu975Gln)
c.2827G>C (p.Glu943Gln)
c.2797G>C (p.Glu933Gln)
c.2722G>C (p.Glu908Gln)
c.2620G>C (p.Glu874Gln)
c.2251G>C (p.Glu751Gln)
5g.112838694G>TCA16028124APCc.2765G>T (n.2765G>T)
c.3154G>T (p.Glu1052Ter)
c.*3106G>T (n.*3106G>T)
c.3046G>T (p.Glu1016Ter)
c.3100G>T (p.Glu1034Ter)
c.1453G>T
c.*2422G>T (n.*2422G>T)
c.230+9722G>T
c.3130G>T (p.Glu1044Ter)
c.3025G>T (p.Glu1009Ter)
c.3016G>T (p.Glu1006Ter)
c.2977G>T (p.Glu993Ter)
c.2923G>T (p.Glu975Ter)
c.2827G>T (p.Glu943Ter)
c.2797G>T (p.Glu933Ter)
c.2722G>T (p.Glu908Ter)
c.2620G>T (p.Glu874Ter)
c.2251G>T (p.Glu751Ter)
 COSMIC
5g.112838695delCA2695204889APCc.2766del (n.2766del)
c.3155del (p.Glu1052GlyfsTer3)
c.*3107del (n.*3107del)
c.3047del (p.Glu1016GlyfsTer3)
c.3101del (p.Glu1034GlyfsTer3)
c.1454del
c.*2423del (n.*2423del)
c.230+9723del
c.3131del (p.Glu1044GlyfsTer3)
c.3026del (p.Glu1009GlyfsTer3)
c.3017del (p.Glu1006GlyfsTer3)
c.2978del (p.Glu993GlyfsTer3)
c.2924del (p.Glu975GlyfsTer3)
c.2828del (p.Glu943GlyfsTer3)
c.2798del (p.Glu933GlyfsTer3)
c.2723del (p.Glu908GlyfsTer3)
c.2621del (p.Glu874GlyfsTer3)
c.2252del (p.Glu751GlyfsTer3)
5g.112838695A=CA1573485968APCc.2766A= (n.2766A=)
c.3155A= (p.Glu1052=)
c.*3107A= (n.*3107A=)
c.3047A= (p.Glu1016=)
c.3101A= (p.Glu1034=)
c.1454A=
c.*2423A= (n.*2423A=)
c.230+9723A=
c.3131A= (p.Glu1044=)
c.3026A= (p.Glu1009=)
c.3017A= (p.Glu1006=)
c.2978A= (p.Glu993=)
c.2924A= (p.Glu975=)
c.2828A= (p.Glu943=)
c.2798A= (p.Glu933=)
c.2723A= (p.Glu908=)
c.2621A= (p.Glu874=)
c.2252A= (p.Glu751=)
5g.112838695A>CCA16028125APCc.2766A>C (n.2766A>C)
c.3155A>C (p.Glu1052Ala)
c.*3107A>C (n.*3107A>C)
c.3047A>C (p.Glu1016Ala)
c.3101A>C (p.Glu1034Ala)
c.1454A>C
c.*2423A>C (n.*2423A>C)
c.230+9723A>C
c.3131A>C (p.Glu1044Ala)
c.3026A>C (p.Glu1009Ala)
c.3017A>C (p.Glu1006Ala)
c.2978A>C (p.Glu993Ala)
c.2924A>C (p.Glu975Ala)
c.2828A>C (p.Glu943Ala)
c.2798A>C (p.Glu933Ala)
c.2723A>C (p.Glu908Ala)
c.2621A>C (p.Glu874Ala)
c.2252A>C (p.Glu751Ala)
5g.112838695A>GCA16028126APCc.2766A>G (n.2766A>G)
c.3155A>G (p.Glu1052Gly)
c.*3107A>G (n.*3107A>G)
c.3047A>G (p.Glu1016Gly)
c.3101A>G (p.Glu1034Gly)
c.1454A>G
c.*2423A>G (n.*2423A>G)
c.230+9723A>G
c.3131A>G (p.Glu1044Gly)
c.3026A>G (p.Glu1009Gly)
c.3017A>G (p.Glu1006Gly)
c.2978A>G (p.Glu993Gly)
c.2924A>G (p.Glu975Gly)
c.2828A>G (p.Glu943Gly)
c.2798A>G (p.Glu933Gly)
c.2723A>G (p.Glu908Gly)
c.2621A>G (p.Glu874Gly)
c.2252A>G (p.Glu751Gly)
 dbSNP
5g.112838695A>TCA16028127APCc.2766A>T (n.2766A>T)
c.3155A>T (p.Glu1052Val)
c.*3107A>T (n.*3107A>T)
c.3047A>T (p.Glu1016Val)
c.3101A>T (p.Glu1034Val)
c.1454A>T
c.*2423A>T (n.*2423A>T)
c.230+9723A>T
c.3131A>T (p.Glu1044Val)
c.3026A>T (p.Glu1009Val)
c.3017A>T (p.Glu1006Val)
c.2978A>T (p.Glu993Val)
c.2924A>T (p.Glu975Val)
c.2828A>T (p.Glu943Val)
c.2798A>T (p.Glu933Val)
c.2723A>T (p.Glu908Val)
c.2621A>T (p.Glu874Val)
c.2252A>T (p.Glu751Val)
 ClinVar dbSNP
5g.112838696G>ACA445963176APCc.2767G>A (n.2767G>A)
c.3156G>A (p.Glu1052=)
c.*3108G>A (n.*3108G>A)
c.3048G>A (p.Glu1016=)
c.3102G>A (p.Glu1034=)
c.1455G>A
c.*2424G>A (n.*2424G>A)
c.230+9724G>A
c.3132G>A (p.Glu1044=)
c.3027G>A (p.Glu1009=)
c.3018G>A (p.Glu1006=)
c.2979G>A (p.Glu993=)
c.2925G>A (p.Glu975=)
c.2829G>A (p.Glu943=)
c.2799G>A (p.Glu933=)
c.2724G>A (p.Glu908=)
c.2622G>A (p.Glu874=)
c.2253G>A (p.Glu751=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112838696G>CCA16028128APCc.2767G>C (n.2767G>C)
c.3156G>C (p.Glu1052Asp)
c.*3108G>C (n.*3108G>C)
c.3048G>C (p.Glu1016Asp)
c.3102G>C (p.Glu1034Asp)
c.1455G>C
c.*2424G>C (n.*2424G>C)
c.230+9724G>C
c.3132G>C (p.Glu1044Asp)
c.3027G>C (p.Glu1009Asp)
c.3018G>C (p.Glu1006Asp)
c.2979G>C (p.Glu993Asp)
c.2925G>C (p.Glu975Asp)
c.2829G>C (p.Glu943Asp)
c.2799G>C (p.Glu933Asp)
c.2724G>C (p.Glu908Asp)
c.2622G>C (p.Glu874Asp)
c.2253G>C (p.Glu751Asp)
 ClinVar dbSNP
5g.112838696G=CA1573485976APCc.2767G= (n.2767G=)
c.3156G= (p.Glu1052=)
c.*3108G= (n.*3108G=)
c.3048G= (p.Glu1016=)
c.3102G= (p.Glu1034=)
c.1455G=
c.*2424G= (n.*2424G=)
c.230+9724G=
c.3132G= (p.Glu1044=)
c.3027G= (p.Glu1009=)
c.3018G= (p.Glu1006=)
c.2979G= (p.Glu993=)
c.2925G= (p.Glu975=)
c.2829G= (p.Glu943=)
c.2799G= (p.Glu933=)
c.2724G= (p.Glu908=)
c.2622G= (p.Glu874=)
c.2253G= (p.Glu751=)
5g.112838696G>TCA16028129APCc.2767G>T (n.2767G>T)
c.3156G>T (p.Glu1052Asp)
c.*3108G>T (n.*3108G>T)
c.3048G>T (p.Glu1016Asp)
c.3102G>T (p.Glu1034Asp)
c.1455G>T
c.*2424G>T (n.*2424G>T)
c.230+9724G>T
c.3132G>T (p.Glu1044Asp)
c.3027G>T (p.Glu1009Asp)
c.3018G>T (p.Glu1006Asp)
c.2979G>T (p.Glu993Asp)
c.2925G>T (p.Glu975Asp)
c.2829G>T (p.Glu943Asp)
c.2799G>T (p.Glu933Asp)
c.2724G>T (p.Glu908Asp)
c.2622G>T (p.Glu874Asp)
c.2253G>T (p.Glu751Asp)
 dbSNP
5g.112838697C>ACA16028130APCc.2768C>A (n.2768C>A)
c.3157C>A (p.Gln1053Lys)
c.*3109C>A (n.*3109C>A)
c.3049C>A (p.Gln1017Lys)
c.3103C>A (p.Gln1035Lys)
c.1456C>A
c.*2425C>A (n.*2425C>A)
c.230+9725C>A
c.3133C>A (p.Gln1045Lys)
c.3028C>A (p.Gln1010Lys)
c.3019C>A (p.Gln1007Lys)
c.2980C>A (p.Gln994Lys)
c.2926C>A (p.Gln976Lys)
c.2830C>A (p.Gln944Lys)
c.2800C>A (p.Gln934Lys)
c.2725C>A (p.Gln909Lys)
c.2623C>A (p.Gln875Lys)
c.2254C>A (p.Gln752Lys)
 dbSNP
5g.112838697C>GCA16028131APCc.2768C>G (n.2768C>G)
c.3157C>G (p.Gln1053Glu)
c.*3109C>G (n.*3109C>G)
c.3049C>G (p.Gln1017Glu)
c.3103C>G (p.Gln1035Glu)
c.1456C>G
c.*2425C>G (n.*2425C>G)
c.230+9725C>G
c.3133C>G (p.Gln1045Glu)
c.3028C>G (p.Gln1010Glu)
c.3019C>G (p.Gln1007Glu)
c.2980C>G (p.Gln994Glu)
c.2926C>G (p.Gln976Glu)
c.2830C>G (p.Gln944Glu)
c.2800C>G (p.Gln934Glu)
c.2725C>G (p.Gln909Glu)
c.2623C>G (p.Gln875Glu)
c.2254C>G (p.Gln752Glu)
 dbSNP
5g.112838697C>TCA16028132APCc.2768C>T (n.2768C>T)
c.3157C>T (p.Gln1053Ter)
c.*3109C>T (n.*3109C>T)
c.3049C>T (p.Gln1017Ter)
c.3103C>T (p.Gln1035Ter)
c.1456C>T
c.*2425C>T (n.*2425C>T)
c.230+9725C>T
c.3133C>T (p.Gln1045Ter)
c.3028C>T (p.Gln1010Ter)
c.3019C>T (p.Gln1007Ter)
c.2980C>T (p.Gln994Ter)
c.2926C>T (p.Gln976Ter)
c.2830C>T (p.Gln944Ter)
c.2800C>T (p.Gln934Ter)
c.2725C>T (p.Gln909Ter)
c.2623C>T (p.Gln875Ter)
c.2254C>T (p.Gln752Ter)
 ClinVar dbSNP COSMIC
5g.112838697dupCA2695204890APCc.2768dup (n.2768dup)
c.3157dup (p.Gln1053ProfsTer13)
c.*3109dup (n.*3109dup)
c.3049dup (p.Gln1017ProfsTer13)
c.3103dup (p.Gln1035ProfsTer13)
c.1456dup
c.*2425dup (n.*2425dup)
c.230+9725dup
c.3133dup (p.Gln1045ProfsTer13)
c.3028dup (p.Gln1010ProfsTer13)
c.3019dup (p.Gln1007ProfsTer13)
c.2980dup (p.Gln994ProfsTer13)
c.2926dup (p.Gln976ProfsTer13)
c.2830dup (p.Gln944ProfsTer13)
c.2800dup (p.Gln934ProfsTer13)
c.2725dup (p.Gln909ProfsTer13)
c.2623dup (p.Gln875ProfsTer13)
c.2254dup (p.Gln752ProfsTer13)
5g.112838698A=CA1573485999APCc.2769A= (n.2769A=)
c.3158A= (p.Gln1053=)
c.*3110A= (n.*3110A=)
c.3050A= (p.Gln1017=)
c.3104A= (p.Gln1035=)
c.1457A=
c.*2426A= (n.*2426A=)
c.230+9726A=
c.3134A= (p.Gln1045=)
c.3029A= (p.Gln1010=)
c.3020A= (p.Gln1007=)
c.2981A= (p.Gln994=)
c.2927A= (p.Gln976=)
c.2831A= (p.Gln944=)
c.2801A= (p.Gln934=)
c.2726A= (p.Gln909=)
c.2624A= (p.Gln875=)
c.2255A= (p.Gln752=)
5g.112838698A>CCA16028133APCc.2769A>C (n.2769A>C)
c.3158A>C (p.Gln1053Pro)
c.*3110A>C (n.*3110A>C)
c.3050A>C (p.Gln1017Pro)
c.3104A>C (p.Gln1035Pro)
c.1457A>C
c.*2426A>C (n.*2426A>C)
c.230+9726A>C
c.3134A>C (p.Gln1045Pro)
c.3029A>C (p.Gln1010Pro)
c.3020A>C (p.Gln1007Pro)
c.2981A>C (p.Gln994Pro)
c.2927A>C (p.Gln976Pro)
c.2831A>C (p.Gln944Pro)
c.2801A>C (p.Gln934Pro)
c.2726A>C (p.Gln909Pro)
c.2624A>C (p.Gln875Pro)
c.2255A>C (p.Gln752Pro)
 ClinVar dbSNP
5g.112838698A>GCA16028134APCc.2769A>G (n.2769A>G)
c.3158A>G (p.Gln1053Arg)
c.*3110A>G (n.*3110A>G)
c.3050A>G (p.Gln1017Arg)
c.3104A>G (p.Gln1035Arg)
c.1457A>G
c.*2426A>G (n.*2426A>G)
c.230+9726A>G
c.3134A>G (p.Gln1045Arg)
c.3029A>G (p.Gln1010Arg)
c.3020A>G (p.Gln1007Arg)
c.2981A>G (p.Gln994Arg)
c.2927A>G (p.Gln976Arg)
c.2831A>G (p.Gln944Arg)
c.2801A>G (p.Gln934Arg)
c.2726A>G (p.Gln909Arg)
c.2624A>G (p.Gln875Arg)
c.2255A>G (p.Gln752Arg)
 ClinVar dbSNP gnomAD v4
5g.112838698A>TCA16028135APCc.2769A>T (n.2769A>T)
c.3158A>T (p.Gln1053Leu)
c.*3110A>T (n.*3110A>T)
c.3050A>T (p.Gln1017Leu)
c.3104A>T (p.Gln1035Leu)
c.1457A>T
c.*2426A>T (n.*2426A>T)
c.230+9726A>T
c.3134A>T (p.Gln1045Leu)
c.3029A>T (p.Gln1010Leu)
c.3020A>T (p.Gln1007Leu)
c.2981A>T (p.Gln994Leu)
c.2927A>T (p.Gln976Leu)
c.2831A>T (p.Gln944Leu)
c.2801A>T (p.Gln934Leu)
c.2726A>T (p.Gln909Leu)
c.2624A>T (p.Gln875Leu)
c.2255A>T (p.Gln752Leu)
 dbSNP
5g.112838699G>ACA445963177APCc.2770G>A (n.2770G>A)
c.3159G>A (p.Gln1053=)
c.*3111G>A (n.*3111G>A)
c.3051G>A (p.Gln1017=)
c.3105G>A (p.Gln1035=)
c.1458G>A
c.*2427G>A (n.*2427G>A)
c.230+9727G>A
c.3135G>A (p.Gln1045=)
c.3030G>A (p.Gln1010=)
c.3021G>A (p.Gln1007=)
c.2982G>A (p.Gln994=)
c.2928G>A (p.Gln976=)
c.2832G>A (p.Gln944=)
c.2802G>A (p.Gln934=)
c.2727G>A (p.Gln909=)
c.2625G>A (p.Gln875=)
c.2256G>A (p.Gln752=)
 ClinVar dbSNP gnomAD v4
5g.112838699G>CCA16028136APCc.2770G>C (n.2770G>C)
c.3159G>C (p.Gln1053His)
c.*3111G>C (n.*3111G>C)
c.3051G>C (p.Gln1017His)
c.3105G>C (p.Gln1035His)
c.1458G>C
c.*2427G>C (n.*2427G>C)
c.230+9727G>C
c.3135G>C (p.Gln1045His)
c.3030G>C (p.Gln1010His)
c.3021G>C (p.Gln1007His)
c.2982G>C (p.Gln994His)
c.2928G>C (p.Gln976His)
c.2832G>C (p.Gln944His)
c.2802G>C (p.Gln934His)
c.2727G>C (p.Gln909His)
c.2625G>C (p.Gln875His)
c.2256G>C (p.Gln752His)
 dbSNP
5g.112838699G=CA1573486005APCc.2770G= (n.2770G=)
c.3159G= (p.Gln1053=)
c.*3111G= (n.*3111G=)
c.3051G= (p.Gln1017=)
c.3105G= (p.Gln1035=)
c.1458G=
c.*2427G= (n.*2427G=)
c.230+9727G=
c.3135G= (p.Gln1045=)
c.3030G= (p.Gln1010=)
c.3021G= (p.Gln1007=)
c.2982G= (p.Gln994=)
c.2928G= (p.Gln976=)
c.2832G= (p.Gln944=)
c.2802G= (p.Gln934=)
c.2727G= (p.Gln909=)
c.2625G= (p.Gln875=)
c.2256G= (p.Gln752=)
5g.112838699G>TCA10582304APCc.2770G>T (n.2770G>T)
c.3159G>T (p.Gln1053His)
c.*3111G>T (n.*3111G>T)
c.3051G>T (p.Gln1017His)
c.3105G>T (p.Gln1035His)
c.1458G>T
c.*2427G>T (n.*2427G>T)
c.230+9727G>T
c.3135G>T (p.Gln1045His)
c.3030G>T (p.Gln1010His)
c.3021G>T (p.Gln1007His)
c.2982G>T (p.Gln994His)
c.2928G>T (p.Gln976His)
c.2832G>T (p.Gln944His)
c.2802G>T (p.Gln934His)
c.2727G>T (p.Gln909His)
c.2625G>T (p.Gln875His)
c.2256G>T (p.Gln752His)
 ClinVar dbSNP gnomAD v4
5g.112838700T>ACA16028137APCc.2771T>A (n.2771T>A)
c.3160T>A (p.Leu1054Met)
c.*3112T>A (n.*3112T>A)
c.3052T>A (p.Leu1018Met)
c.3106T>A (p.Leu1036Met)
c.1459T>A
c.*2428T>A (n.*2428T>A)
c.230+9728T>A
c.3136T>A (p.Leu1046Met)
c.3031T>A (p.Leu1011Met)
c.3022T>A (p.Leu1008Met)
c.2983T>A (p.Leu995Met)
c.2929T>A (p.Leu977Met)
c.2833T>A (p.Leu945Met)
c.2803T>A (p.Leu935Met)
c.2728T>A (p.Leu910Met)
c.2626T>A (p.Leu876Met)
c.2257T>A (p.Leu753Met)
 dbSNP
5g.112838700T>CCA445963178APCc.2771T>C (n.2771T>C)
c.3160T>C (p.Leu1054=)
c.*3112T>C (n.*3112T>C)
c.3052T>C (p.Leu1018=)
c.3106T>C (p.Leu1036=)
c.1459T>C
c.*2428T>C (n.*2428T>C)
c.230+9728T>C
c.3136T>C (p.Leu1046=)
c.3031T>C (p.Leu1011=)
c.3022T>C (p.Leu1008=)
c.2983T>C (p.Leu995=)
c.2929T>C (p.Leu977=)
c.2833T>C (p.Leu945=)
c.2803T>C (p.Leu935=)
c.2728T>C (p.Leu910=)
c.2626T>C (p.Leu876=)
c.2257T>C (p.Leu753=)
5g.112838700T>GCA16028138APCc.2771T>G (n.2771T>G)
c.3160T>G (p.Leu1054Val)
c.*3112T>G (n.*3112T>G)
c.3052T>G (p.Leu1018Val)
c.3106T>G (p.Leu1036Val)
c.1459T>G
c.*2428T>G (n.*2428T>G)
c.230+9728T>G
c.3136T>G (p.Leu1046Val)
c.3031T>G (p.Leu1011Val)
c.3022T>G (p.Leu1008Val)
c.2983T>G (p.Leu995Val)
c.2929T>G (p.Leu977Val)
c.2833T>G (p.Leu945Val)
c.2803T>G (p.Leu935Val)
c.2728T>G (p.Leu910Val)
c.2626T>G (p.Leu876Val)
c.2257T>G (p.Leu753Val)
 dbSNP
5g.112838701T>ACA16028139APCc.2772T>A (n.2772T>A)
c.3161T>A (p.Leu1054Ter)
c.*3113T>A (n.*3113T>A)
c.3053T>A (p.Leu1018Ter)
c.3107T>A (p.Leu1036Ter)
c.1460T>A
c.*2429T>A (n.*2429T>A)
c.230+9729T>A
c.3137T>A (p.Leu1046Ter)
c.3032T>A (p.Leu1011Ter)
c.3023T>A (p.Leu1008Ter)
c.2984T>A (p.Leu995Ter)
c.2930T>A (p.Leu977Ter)
c.2834T>A (p.Leu945Ter)
c.2804T>A (p.Leu935Ter)
c.2729T>A (p.Leu910Ter)
c.2627T>A (p.Leu876Ter)
c.2258T>A (p.Leu753Ter)
 dbSNP
5g.112838701T>CCA16028140APCc.2772T>C (n.2772T>C)
c.3161T>C (p.Leu1054Ser)
c.*3113T>C (n.*3113T>C)
c.3053T>C (p.Leu1018Ser)
c.3107T>C (p.Leu1036Ser)
c.1460T>C
c.*2429T>C (n.*2429T>C)
c.230+9729T>C
c.3137T>C (p.Leu1046Ser)
c.3032T>C (p.Leu1011Ser)
c.3023T>C (p.Leu1008Ser)
c.2984T>C (p.Leu995Ser)
c.2930T>C (p.Leu977Ser)
c.2834T>C (p.Leu945Ser)
c.2804T>C (p.Leu935Ser)
c.2729T>C (p.Leu910Ser)
c.2627T>C (p.Leu876Ser)
c.2258T>C (p.Leu753Ser)
5g.112838701T>GCA16028141APCc.2772T>G (n.2772T>G)
c.3161T>G (p.Leu1054Trp)
c.*3113T>G (n.*3113T>G)
c.3053T>G (p.Leu1018Trp)
c.3107T>G (p.Leu1036Trp)
c.1460T>G
c.*2429T>G (n.*2429T>G)
c.230+9729T>G
c.3137T>G (p.Leu1046Trp)
c.3032T>G (p.Leu1011Trp)
c.3023T>G (p.Leu1008Trp)
c.2984T>G (p.Leu995Trp)
c.2930T>G (p.Leu977Trp)
c.2834T>G (p.Leu945Trp)
c.2804T>G (p.Leu935Trp)
c.2729T>G (p.Leu910Trp)
c.2627T>G (p.Leu876Trp)
c.2258T>G (p.Leu753Trp)
 ClinVar dbSNP
5g.112838701T=CA1573486009APCc.2772T= (n.2772T=)
c.3161T= (p.Leu1054=)
c.*3113T= (n.*3113T=)
c.3053T= (p.Leu1018=)
c.3107T= (p.Leu1036=)
c.1460T=
c.*2429T= (n.*2429T=)
c.230+9729T=
c.3137T= (p.Leu1046=)
c.3032T= (p.Leu1011=)
c.3023T= (p.Leu1008=)
c.2984T= (p.Leu995=)
c.2930T= (p.Leu977=)
c.2834T= (p.Leu945=)
c.2804T= (p.Leu935=)
c.2729T= (p.Leu910=)
c.2627T= (p.Leu876=)
c.2258T= (p.Leu753=)
5g.112838702G>ACA445963179APCc.2773G>A (n.2773G>A)
c.3162G>A (p.Leu1054=)
c.*3114G>A (n.*3114G>A)
c.3054G>A (p.Leu1018=)
c.3108G>A (p.Leu1036=)
c.1461G>A
c.*2430G>A (n.*2430G>A)
c.230+9730G>A
c.3138G>A (p.Leu1046=)
c.3033G>A (p.Leu1011=)
c.3024G>A (p.Leu1008=)
c.2985G>A (p.Leu995=)
c.2931G>A (p.Leu977=)
c.2835G>A (p.Leu945=)
c.2805G>A (p.Leu935=)
c.2730G>A (p.Leu910=)
c.2628G>A (p.Leu876=)
c.2259G>A (p.Leu753=)
 dbSNP gnomAD v4
5g.112838702G>CCA16028142APCc.2773G>C (n.2773G>C)
c.3162G>C (p.Leu1054Phe)
c.*3114G>C (n.*3114G>C)
c.3054G>C (p.Leu1018Phe)
c.3108G>C (p.Leu1036Phe)
c.1461G>C
c.*2430G>C (n.*2430G>C)
c.230+9730G>C
c.3138G>C (p.Leu1046Phe)
c.3033G>C (p.Leu1011Phe)
c.3024G>C (p.Leu1008Phe)
c.2985G>C (p.Leu995Phe)
c.2931G>C (p.Leu977Phe)
c.2835G>C (p.Leu945Phe)
c.2805G>C (p.Leu935Phe)
c.2730G>C (p.Leu910Phe)
c.2628G>C (p.Leu876Phe)
c.2259G>C (p.Leu753Phe)
 dbSNP
5g.112838702G>TCA16028143APCc.2773G>T (n.2773G>T)
c.3162G>T (p.Leu1054Phe)
c.*3114G>T (n.*3114G>T)
c.3054G>T (p.Leu1018Phe)
c.3108G>T (p.Leu1036Phe)
c.1461G>T
c.*2430G>T (n.*2430G>T)
c.230+9730G>T
c.3138G>T (p.Leu1046Phe)
c.3033G>T (p.Leu1011Phe)
c.3024G>T (p.Leu1008Phe)
c.2985G>T (p.Leu995Phe)
c.2931G>T (p.Leu977Phe)
c.2835G>T (p.Leu945Phe)
c.2805G>T (p.Leu935Phe)
c.2730G>T (p.Leu910Phe)
c.2628G>T (p.Leu876Phe)
c.2259G>T (p.Leu753Phe)
 dbSNP
5g.112838705_112838712dupCA658760873APCc.2776_2783dup (n.2776_2783dup)
c.3165_3172dup (p.Arg1058ThrfsTer19)
c.*3117_*3124dup (n.*3117_*3124dup)
c.3057_3064dup (p.Arg1022ThrfsTer19)
c.3111_3118dup (p.Arg1040ThrfsTer19)
c.1464_1471dup
c.*2433_*2440dup (n.*2433_*2440dup)
c.230+9733_230+9740dup
c.3141_3148dup (p.Arg1050ThrfsTer19)
c.3036_3043dup (p.Arg1015ThrfsTer19)
c.3027_3034dup (p.Arg1012ThrfsTer19)
c.2988_2995dup (p.Arg999ThrfsTer19)
c.2934_2941dup (p.Arg981ThrfsTer19)
c.2838_2845dup (p.Arg949ThrfsTer19)
c.2808_2815dup (p.Arg939ThrfsTer19)
c.2733_2740dup (p.Arg914ThrfsTer19)
c.2631_2638dup (p.Arg880ThrfsTer19)
c.2262_2269dup (p.Arg757ThrfsTer19)
5g.112838703A>CCA16028144APCc.2774A>C (n.2774A>C)
c.3163A>C (p.Asn1055His)
c.*3115A>C (n.*3115A>C)
c.3055A>C (p.Asn1019His)
c.3109A>C (p.Asn1037His)
c.1462A>C
c.*2431A>C (n.*2431A>C)
c.230+9731A>C
c.3139A>C (p.Asn1047His)
c.3034A>C (p.Asn1012His)
c.3025A>C (p.Asn1009His)
c.2986A>C (p.Asn996His)
c.2932A>C (p.Asn978His)
c.2836A>C (p.Asn946His)
c.2806A>C (p.Asn936His)
c.2731A>C (p.Asn911His)
c.2629A>C (p.Asn877His)
c.2260A>C (p.Asn754His)
 dbSNP
5g.112838703A>GCA16028145APCc.2774A>G (n.2774A>G)
c.3163A>G (p.Asn1055Asp)
c.*3115A>G (n.*3115A>G)
c.3055A>G (p.Asn1019Asp)
c.3109A>G (p.Asn1037Asp)
c.1462A>G
c.*2431A>G (n.*2431A>G)
c.230+9731A>G
c.3139A>G (p.Asn1047Asp)
c.3034A>G (p.Asn1012Asp)
c.3025A>G (p.Asn1009Asp)
c.2986A>G (p.Asn996Asp)
c.2932A>G (p.Asn978Asp)
c.2836A>G (p.Asn946Asp)
c.2806A>G (p.Asn936Asp)
c.2731A>G (p.Asn911Asp)
c.2629A>G (p.Asn877Asp)
c.2260A>G (p.Asn754Asp)
 dbSNP
5g.112838703A>TCA16028146APCc.2774A>T (n.2774A>T)
c.3163A>T (p.Asn1055Tyr)
c.*3115A>T (n.*3115A>T)
c.3055A>T (p.Asn1019Tyr)
c.3109A>T (p.Asn1037Tyr)
c.1462A>T
c.*2431A>T (n.*2431A>T)
c.230+9731A>T
c.3139A>T (p.Asn1047Tyr)
c.3034A>T (p.Asn1012Tyr)
c.3025A>T (p.Asn1009Tyr)
c.2986A>T (p.Asn996Tyr)
c.2932A>T (p.Asn978Tyr)
c.2836A>T (p.Asn946Tyr)
c.2806A>T (p.Asn936Tyr)
c.2731A>T (p.Asn911Tyr)
c.2629A>T (p.Asn877Tyr)
c.2260A>T (p.Asn754Tyr)
 dbSNP
5g.112838703_112838704delCA658760874APCc.2774_2775del (n.2774_2775del)
c.3163_3164del (p.Asn1055LeufsTer10)
c.*3115_*3116del (n.*3115_*3116del)
c.3055_3056del (p.Asn1019LeufsTer10)
c.3109_3110del (p.Asn1037LeufsTer10)
c.1462_1463del
c.*2431_*2432del (n.*2431_*2432del)
c.230+9731_230+9732del
c.3139_3140del (p.Asn1047LeufsTer10)
c.3034_3035del (p.Asn1012LeufsTer10)
c.3025_3026del (p.Asn1009LeufsTer10)
c.2986_2987del (p.Asn996LeufsTer10)
c.2932_2933del (p.Asn978LeufsTer10)
c.2836_2837del (p.Asn946LeufsTer10)
c.2806_2807del (p.Asn936LeufsTer10)
c.2731_2732del (p.Asn911LeufsTer10)
c.2629_2630del (p.Asn877LeufsTer10)
c.2260_2261del (p.Asn754LeufsTer10)
5g.112838704A=CA1573486016APCc.2775A= (n.2775A=)
c.3164A= (p.Asn1055=)
c.*3116A= (n.*3116A=)
c.3056A= (p.Asn1019=)
c.3110A= (p.Asn1037=)
c.1463A=
c.*2432A= (n.*2432A=)
c.230+9732A=
c.3140A= (p.Asn1047=)
c.3035A= (p.Asn1012=)
c.3026A= (p.Asn1009=)
c.2987A= (p.Asn996=)
c.2933A= (p.Asn978=)
c.2837A= (p.Asn946=)
c.2807A= (p.Asn936=)
c.2732A= (p.Asn911=)
c.2630A= (p.Asn877=)
c.2261A= (p.Asn754=)
5g.112838704A>CCA16028147APCc.2775A>C (n.2775A>C)
c.3164A>C (p.Asn1055Thr)
c.*3116A>C (n.*3116A>C)
c.3056A>C (p.Asn1019Thr)
c.3110A>C (p.Asn1037Thr)
c.1463A>C
c.*2432A>C (n.*2432A>C)
c.230+9732A>C
c.3140A>C (p.Asn1047Thr)
c.3035A>C (p.Asn1012Thr)
c.3026A>C (p.Asn1009Thr)
c.2987A>C (p.Asn996Thr)
c.2933A>C (p.Asn978Thr)
c.2837A>C (p.Asn946Thr)
c.2807A>C (p.Asn936Thr)
c.2732A>C (p.Asn911Thr)
c.2630A>C (p.Asn877Thr)
c.2261A>C (p.Asn754Thr)
 dbSNP
5g.112838704A>GCA16028148APCc.2775A>G (n.2775A>G)
c.3164A>G (p.Asn1055Ser)
c.*3116A>G (n.*3116A>G)
c.3056A>G (p.Asn1019Ser)
c.3110A>G (p.Asn1037Ser)
c.1463A>G
c.*2432A>G (n.*2432A>G)
c.230+9732A>G
c.3140A>G (p.Asn1047Ser)
c.3035A>G (p.Asn1012Ser)
c.3026A>G (p.Asn1009Ser)
c.2987A>G (p.Asn996Ser)
c.2933A>G (p.Asn978Ser)
c.2837A>G (p.Asn946Ser)
c.2807A>G (p.Asn936Ser)
c.2732A>G (p.Asn911Ser)
c.2630A>G (p.Asn877Ser)
c.2261A>G (p.Asn754Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.112838704A>TCA16028149APCc.2775A>T (n.2775A>T)
c.3164A>T (p.Asn1055Ile)
c.*3116A>T (n.*3116A>T)
c.3056A>T (p.Asn1019Ile)
c.3110A>T (p.Asn1037Ile)
c.1463A>T
c.*2432A>T (n.*2432A>T)
c.230+9732A>T
c.3140A>T (p.Asn1047Ile)
c.3035A>T (p.Asn1012Ile)
c.3026A>T (p.Asn1009Ile)
c.2987A>T (p.Asn996Ile)
c.2933A>T (p.Asn978Ile)
c.2837A>T (p.Asn946Ile)
c.2807A>T (p.Asn936Ile)
c.2732A>T (p.Asn911Ile)
c.2630A>T (p.Asn877Ile)
c.2261A>T (p.Asn754Ile)
 dbSNP
5g.112838705C>ACA16028150APCc.2776C>A (n.2776C>A)
c.3165C>A (p.Asn1055Lys)
c.*3117C>A (n.*3117C>A)
c.3057C>A (p.Asn1019Lys)
c.3111C>A (p.Asn1037Lys)
c.1464C>A
c.*2433C>A (n.*2433C>A)
c.230+9733C>A
c.3141C>A (p.Asn1047Lys)
c.3036C>A (p.Asn1012Lys)
c.3027C>A (p.Asn1009Lys)
c.2988C>A (p.Asn996Lys)
c.2934C>A (p.Asn978Lys)
c.2838C>A (p.Asn946Lys)
c.2808C>A (p.Asn936Lys)
c.2733C>A (p.Asn911Lys)
c.2631C>A (p.Asn877Lys)
c.2262C>A (p.Asn754Lys)
 ClinVar dbSNP
5g.112838705C=CA1573486069APCc.2776C= (n.2776C=)
c.3165C= (p.Asn1055=)
c.*3117C= (n.*3117C=)
c.3057C= (p.Asn1019=)
c.3111C= (p.Asn1037=)
c.1464C=
c.*2433C= (n.*2433C=)
c.230+9733C=
c.3141C= (p.Asn1047=)
c.3036C= (p.Asn1012=)
c.3027C= (p.Asn1009=)
c.2988C= (p.Asn996=)
c.2934C= (p.Asn978=)
c.2838C= (p.Asn946=)
c.2808C= (p.Asn936=)
c.2733C= (p.Asn911=)
c.2631C= (p.Asn877=)
c.2262C= (p.Asn754=)
5g.112838705C>GCA16028151APCc.2776C>G (n.2776C>G)
c.3165C>G (p.Asn1055Lys)
c.*3117C>G (n.*3117C>G)
c.3057C>G (p.Asn1019Lys)
c.3111C>G (p.Asn1037Lys)
c.1464C>G
c.*2433C>G (n.*2433C>G)
c.230+9733C>G
c.3141C>G (p.Asn1047Lys)
c.3036C>G (p.Asn1012Lys)
c.3027C>G (p.Asn1009Lys)
c.2988C>G (p.Asn996Lys)
c.2934C>G (p.Asn978Lys)
c.2838C>G (p.Asn946Lys)
c.2808C>G (p.Asn936Lys)
c.2733C>G (p.Asn911Lys)
c.2631C>G (p.Asn877Lys)
c.2262C>G (p.Asn754Lys)
 ClinVar dbSNP
5g.112838705C>TCA445963180APCc.2776C>T (n.2776C>T)
c.3165C>T (p.Asn1055=)
c.*3117C>T (n.*3117C>T)
c.3057C>T (p.Asn1019=)
c.3111C>T (p.Asn1037=)
c.1464C>T
c.*2433C>T (n.*2433C>T)
c.230+9733C>T
c.3141C>T (p.Asn1047=)
c.3036C>T (p.Asn1012=)
c.3027C>T (p.Asn1009=)
c.2988C>T (p.Asn996=)
c.2934C>T (p.Asn978=)
c.2838C>T (p.Asn946=)
c.2808C>T (p.Asn936=)
c.2733C>T (p.Asn911=)
c.2631C>T (p.Asn877=)
c.2262C>T (p.Asn754=)
 ClinVar dbSNP
5g.112838706T>ACA16028152APCc.2777T>A (n.2777T>A)
c.3166T>A (p.Ser1056Thr)
c.*3118T>A (n.*3118T>A)
c.3058T>A (p.Ser1020Thr)
c.3112T>A (p.Ser1038Thr)
c.1465T>A
c.*2434T>A (n.*2434T>A)
c.230+9734T>A
c.3142T>A (p.Ser1048Thr)
c.3037T>A (p.Ser1013Thr)
c.3028T>A (p.Ser1010Thr)
c.2989T>A (p.Ser997Thr)
c.2935T>A (p.Ser979Thr)
c.2839T>A (p.Ser947Thr)
c.2809T>A (p.Ser937Thr)
c.2734T>A (p.Ser912Thr)
c.2632T>A (p.Ser878Thr)
c.2263T>A (p.Ser755Thr)
 dbSNP
5g.112838706T>CCA16028153APCc.2777T>C (n.2777T>C)
c.3166T>C (p.Ser1056Pro)
c.*3118T>C (n.*3118T>C)
c.3058T>C (p.Ser1020Pro)
c.3112T>C (p.Ser1038Pro)
c.1465T>C
c.*2434T>C (n.*2434T>C)
c.230+9734T>C
c.3142T>C (p.Ser1048Pro)
c.3037T>C (p.Ser1013Pro)
c.3028T>C (p.Ser1010Pro)
c.2989T>C (p.Ser997Pro)
c.2935T>C (p.Ser979Pro)
c.2839T>C (p.Ser947Pro)
c.2809T>C (p.Ser937Pro)
c.2734T>C (p.Ser912Pro)
c.2632T>C (p.Ser878Pro)
c.2263T>C (p.Ser755Pro)
 dbSNP
5g.112838706T>GCA16028154APCc.2777T>G (n.2777T>G)
c.3166T>G (p.Ser1056Ala)
c.*3118T>G (n.*3118T>G)
c.3058T>G (p.Ser1020Ala)
c.3112T>G (p.Ser1038Ala)
c.1465T>G
c.*2434T>G (n.*2434T>G)
c.230+9734T>G
c.3142T>G (p.Ser1048Ala)
c.3037T>G (p.Ser1013Ala)
c.3028T>G (p.Ser1010Ala)
c.2989T>G (p.Ser997Ala)
c.2935T>G (p.Ser979Ala)
c.2839T>G (p.Ser947Ala)
c.2809T>G (p.Ser937Ala)
c.2734T>G (p.Ser912Ala)
c.2632T>G (p.Ser878Ala)
c.2263T>G (p.Ser755Ala)
5g.112838707C>ACA16028155APCc.2778C>A (n.2778C>A)
c.3167C>A (p.Ser1056Tyr)
c.*3119C>A (n.*3119C>A)
c.3059C>A (p.Ser1020Tyr)
c.3113C>A (p.Ser1038Tyr)
c.1466C>A
c.*2435C>A (n.*2435C>A)
c.230+9735C>A
c.3143C>A (p.Ser1048Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3029C>A (p.Ser1010Tyr)
c.2990C>A (p.Ser997Tyr)
c.2936C>A (p.Ser979Tyr)
c.2840C>A (p.Ser947Tyr)
c.2810C>A (p.Ser937Tyr)
c.2735C>A (p.Ser912Tyr)
c.2633C>A (p.Ser878Tyr)
c.2264C>A (p.Ser755Tyr)
 dbSNP
5g.112838707C=CA1573486084APCc.2778C= (n.2778C=)
c.3167C= (p.Ser1056=)
c.*3119C= (n.*3119C=)
c.3059C= (p.Ser1020=)
c.3113C= (p.Ser1038=)
c.1466C=
c.*2435C= (n.*2435C=)
c.230+9735C=
c.3143C= (p.Ser1048=)
c.3038C= (p.Ser1013=)
c.3029C= (p.Ser1010=)
c.2990C= (p.Ser997=)
c.2936C= (p.Ser979=)
c.2840C= (p.Ser947=)
c.2810C= (p.Ser937=)
c.2735C= (p.Ser912=)
c.2633C= (p.Ser878=)
c.2264C= (p.Ser755=)
5g.112838707C>GCA16028156APCc.2778C>G (n.2778C>G)
c.3167C>G (p.Ser1056Cys)
c.*3119C>G (n.*3119C>G)
c.3059C>G (p.Ser1020Cys)
c.3113C>G (p.Ser1038Cys)
c.1466C>G
c.*2435C>G (n.*2435C>G)
c.230+9735C>G
c.3143C>G (p.Ser1048Cys)
c.3038C>G (p.Ser1013Cys)
c.3029C>G (p.Ser1010Cys)
c.2990C>G (p.Ser997Cys)
c.2936C>G (p.Ser979Cys)
c.2840C>G (p.Ser947Cys)
c.2810C>G (p.Ser937Cys)
c.2735C>G (p.Ser912Cys)
c.2633C>G (p.Ser878Cys)
c.2264C>G (p.Ser755Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.112838707C>TCA16028157APCc.2778C>T (n.2778C>T)
c.3167C>T (p.Ser1056Phe)
c.*3119C>T (n.*3119C>T)
c.3059C>T (p.Ser1020Phe)
c.3113C>T (p.Ser1038Phe)
c.1466C>T
c.*2435C>T (n.*2435C>T)
c.230+9735C>T
c.3143C>T (p.Ser1048Phe)
c.3038C>T (p.Ser1013Phe)
c.3029C>T (p.Ser1010Phe)
c.2990C>T (p.Ser997Phe)
c.2936C>T (p.Ser979Phe)
c.2840C>T (p.Ser947Phe)
c.2810C>T (p.Ser937Phe)
c.2735C>T (p.Ser912Phe)
c.2633C>T (p.Ser878Phe)
c.2264C>T (p.Ser755Phe)
 ClinVar dbSNP
5g.112838707_112838709delinsCTGCA1573486089APCc.2778_2780delinsCTG (n.2778_2780delinsCTG)
c.3167_3169delinsCTG (p.Ser1056=)
c.*3119_*3121delinsCTG (n.*3119_*3121delinsCTG)
c.3059_3061delinsCTG (p.Ser1020=)
c.3113_3115delinsCTG (p.Ser1038=)
c.1466_1468delinsCTG
c.*2435_*2437delinsCTG (n.*2435_*2437delinsCTG)
c.230+9735_230+9737delinsCTG
c.3143_3145delinsCTG (p.Ser1048=)
c.3038_3040delinsCTG (p.Ser1013=)
c.3029_3031delinsCTG (p.Ser1010=)
c.2990_2992delinsCTG (p.Ser997=)
c.2936_2938delinsCTG (p.Ser979=)
c.2840_2842delinsCTG (p.Ser947=)
c.2810_2812delinsCTG (p.Ser937=)
c.2735_2737delinsCTG (p.Ser912=)
c.2633_2635delinsCTG (p.Ser878=)
c.2264_2266delinsCTG (p.Ser755=)
5g.112838708T>ACA445963181APCc.2779T>A (n.2779T>A)
c.3168T>A (p.Ser1056=)
c.*3120T>A (n.*3120T>A)
c.3060T>A (p.Ser1020=)
c.3114T>A (p.Ser1038=)
c.1467T>A
c.*2436T>A (n.*2436T>A)
c.230+9736T>A
c.3144T>A (p.Ser1048=)
c.3039T>A (p.Ser1013=)
c.3030T>A (p.Ser1010=)
c.2991T>A (p.Ser997=)
c.2937T>A (p.Ser979=)
c.2841T>A (p.Ser947=)
c.2811T>A (p.Ser937=)
c.2736T>A (p.Ser912=)
c.2634T>A (p.Ser878=)
c.2265T>A (p.Ser755=)
5g.112838708T>CCA445963182APCc.2779T>C (n.2779T>C)
c.3168T>C (p.Ser1056=)
c.*3120T>C (n.*3120T>C)
c.3060T>C (p.Ser1020=)
c.3114T>C (p.Ser1038=)
c.1467T>C
c.*2436T>C (n.*2436T>C)
c.230+9736T>C
c.3144T>C (p.Ser1048=)
c.3039T>C (p.Ser1013=)
c.3030T>C (p.Ser1010=)
c.2991T>C (p.Ser997=)
c.2937T>C (p.Ser979=)
c.2841T>C (p.Ser947=)
c.2811T>C (p.Ser937=)
c.2736T>C (p.Ser912=)
c.2634T>C (p.Ser878=)
c.2265T>C (p.Ser755=)
5g.112838708T>GCA445963183APCc.2779T>G (n.2779T>G)
c.3168T>G (p.Ser1056=)
c.*3120T>G (n.*3120T>G)
c.3060T>G (p.Ser1020=)
c.3114T>G (p.Ser1038=)
c.1467T>G
c.*2436T>G (n.*2436T>G)
c.230+9736T>G
c.3144T>G (p.Ser1048=)
c.3039T>G (p.Ser1013=)
c.3030T>G (p.Ser1010=)
c.2991T>G (p.Ser997=)
c.2937T>G (p.Ser979=)
c.2841T>G (p.Ser947=)
c.2811T>G (p.Ser937=)
c.2736T>G (p.Ser912=)
c.2634T>G (p.Ser878=)
c.2265T>G (p.Ser755=)
5g.112838708_112838709delCA645372784APCc.2779_2780del (n.2779_2780del)
c.3168_3169del (p.Gly1057LysfsTer8)
c.*3120_*3121del (n.*3120_*3121del)
c.3060_3061del (p.Gly1021LysfsTer8)
c.3114_3115del (p.Gly1039LysfsTer8)
c.1467_1468del
c.*2436_*2437del (n.*2436_*2437del)
c.230+9736_230+9737del
c.3144_3145del (p.Gly1049LysfsTer8)
c.3039_3040del (p.Gly1014LysfsTer8)
c.3030_3031del (p.Gly1011LysfsTer8)
c.2991_2992del (p.Gly998LysfsTer8)
c.2937_2938del (p.Gly980LysfsTer8)
c.2841_2842del (p.Gly948LysfsTer8)
c.2811_2812del (p.Gly938LysfsTer8)
c.2736_2737del (p.Gly913LysfsTer8)
c.2634_2635del (p.Gly879LysfsTer8)
c.2265_2266del (p.Gly756LysfsTer8)
 ClinVar dbSNP
5g.112838709G>ACA16028158APCc.2780G>A (n.2780G>A)
c.3169G>A (p.Gly1057Arg)
c.*3121G>A (n.*3121G>A)
c.3061G>A (p.Gly1021Arg)
c.3115G>A (p.Gly1039Arg)
c.1468G>A
c.*2437G>A (n.*2437G>A)
c.230+9737G>A
c.3145G>A (p.Gly1049Arg)
c.3040G>A (p.Gly1014Arg)
c.3031G>A (p.Gly1011Arg)
c.2992G>A (p.Gly998Arg)
c.2938G>A (p.Gly980Arg)
c.2842G>A (p.Gly948Arg)
c.2812G>A (p.Gly938Arg)
c.2737G>A (p.Gly913Arg)
c.2635G>A (p.Gly879Arg)
c.2266G>A (p.Gly756Arg)
5g.112838709G>CCA16028159APCc.2780G>C (n.2780G>C)
c.3169G>C (p.Gly1057Arg)
c.*3121G>C (n.*3121G>C)
c.3061G>C (p.Gly1021Arg)
c.3115G>C (p.Gly1039Arg)
c.1468G>C
c.*2437G>C (n.*2437G>C)
c.230+9737G>C
c.3145G>C (p.Gly1049Arg)
c.3040G>C (p.Gly1014Arg)
c.3031G>C (p.Gly1011Arg)
c.2992G>C (p.Gly998Arg)
c.2938G>C (p.Gly980Arg)
c.2842G>C (p.Gly948Arg)
c.2812G>C (p.Gly938Arg)
c.2737G>C (p.Gly913Arg)
c.2635G>C (p.Gly879Arg)
c.2266G>C (p.Gly756Arg)
5g.112838709G>TCA16028160APCc.2780G>T (n.2780G>T)
c.3169G>T (p.Gly1057Ter)
c.*3121G>T (n.*3121G>T)
c.3061G>T (p.Gly1021Ter)
c.3115G>T (p.Gly1039Ter)
c.1468G>T
c.*2437G>T (n.*2437G>T)
c.230+9737G>T
c.3145G>T (p.Gly1049Ter)
c.3040G>T (p.Gly1014Ter)
c.3031G>T (p.Gly1011Ter)
c.2992G>T (p.Gly998Ter)
c.2938G>T (p.Gly980Ter)
c.2842G>T (p.Gly948Ter)
c.2812G>T (p.Gly938Ter)
c.2737G>T (p.Gly913Ter)
c.2635G>T (p.Gly879Ter)
c.2266G>T (p.Gly756Ter)
5g.112838709_112838710delinsCTCA658796577APCc.2780_2781delinsCT (n.2780_2781delinsCT)
c.3169_3170delinsCT (p.Gly1057Leu)
c.*3121_*3122delinsCT (n.*3121_*3122delinsCT)
c.3061_3062delinsCT (p.Gly1021Leu)
c.3115_3116delinsCT (p.Gly1039Leu)
c.1468_1469delinsCT
c.*2437_*2438delinsCT (n.*2437_*2438delinsCT)
c.230+9737_230+9738delinsCT
c.3145_3146delinsCT (p.Gly1049Leu)
c.3040_3041delinsCT (p.Gly1014Leu)
c.3031_3032delinsCT (p.Gly1011Leu)
c.2992_2993delinsCT (p.Gly998Leu)
c.2938_2939delinsCT (p.Gly980Leu)
c.2842_2843delinsCT (p.Gly948Leu)
c.2812_2813delinsCT (p.Gly938Leu)
c.2737_2738delinsCT (p.Gly913Leu)
c.2635_2636delinsCT (p.Gly879Leu)
c.2266_2267delinsCT (p.Gly756Leu)
 ClinVar dbSNP
5g.112838709_112838710delinsGGCA1573486109APCc.2780_2781delinsGG (n.2780_2781delinsGG)
c.3169_3170delinsGG (p.Gly1057=)
c.*3121_*3122delinsGG (n.*3121_*3122delinsGG)
c.3061_3062delinsGG (p.Gly1021=)
c.3115_3116delinsGG (p.Gly1039=)
c.1468_1469delinsGG
c.*2437_*2438delinsGG (n.*2437_*2438delinsGG)
c.230+9737_230+9738delinsGG
c.3145_3146delinsGG (p.Gly1049=)
c.3040_3041delinsGG (p.Gly1014=)
c.3031_3032delinsGG (p.Gly1011=)
c.2992_2993delinsGG (p.Gly998=)
c.2938_2939delinsGG (p.Gly980=)
c.2842_2843delinsGG (p.Gly948=)
c.2812_2813delinsGG (p.Gly938=)
c.2737_2738delinsGG (p.Gly913=)
c.2635_2636delinsGG (p.Gly879=)
c.2266_2267delinsGG (p.Gly756=)
5g.112838710dupCA445963184APCc.2781dup (n.2781dup)
c.3170dup (p.Arg1058LysfsTer8)
c.*3122dup (n.*3122dup)
c.3062dup (p.Arg1022LysfsTer8)
c.3116dup (p.Arg1040LysfsTer8)
c.1469dup
c.*2438dup (n.*2438dup)
c.230+9738dup
c.3146dup (p.Arg1050LysfsTer8)
c.3041dup (p.Arg1015LysfsTer8)
c.3032dup (p.Arg1012LysfsTer8)
c.2993dup (p.Arg999LysfsTer8)
c.2939dup (p.Arg981LysfsTer8)
c.2843dup (p.Arg949LysfsTer8)
c.2813dup (p.Arg939LysfsTer8)
c.2738dup (p.Arg914LysfsTer8)
c.2636dup (p.Arg880LysfsTer8)
c.2267dup (p.Arg757LysfsTer8)
 COSMIC
5g.112838710G>ACA16028161APCc.2781G>A (n.2781G>A)
c.3170G>A (p.Gly1057Glu)
c.*3122G>A (n.*3122G>A)
c.3062G>A (p.Gly1021Glu)
c.3116G>A (p.Gly1039Glu)
c.1469G>A
c.*2438G>A (n.*2438G>A)
c.230+9738G>A
c.3146G>A (p.Gly1049Glu)
c.3041G>A (p.Gly1014Glu)
c.3032G>A (p.Gly1011Glu)
c.2993G>A (p.Gly998Glu)
c.2939G>A (p.Gly980Glu)
c.2843G>A (p.Gly948Glu)
c.2813G>A (p.Gly938Glu)
c.2738G>A (p.Gly913Glu)
c.2636G>A (p.Gly879Glu)
c.2267G>A (p.Gly756Glu)
 dbSNP
5g.112838710G>CCA16028162APCc.2781G>C (n.2781G>C)
c.3170G>C (p.Gly1057Ala)
c.*3122G>C (n.*3122G>C)
c.3062G>C (p.Gly1021Ala)
c.3116G>C (p.Gly1039Ala)
c.1469G>C
c.*2438G>C (n.*2438G>C)
c.230+9738G>C
c.3146G>C (p.Gly1049Ala)
c.3041G>C (p.Gly1014Ala)
c.3032G>C (p.Gly1011Ala)
c.2993G>C (p.Gly998Ala)
c.2939G>C (p.Gly980Ala)
c.2843G>C (p.Gly948Ala)
c.2813G>C (p.Gly938Ala)
c.2738G>C (p.Gly913Ala)
c.2636G>C (p.Gly879Ala)
c.2267G>C (p.Gly756Ala)
 ClinVar dbSNP
5g.112838710G=CA1573486117APCc.2781G= (n.2781G=)
c.3170G= (p.Gly1057=)
c.*3122G= (n.*3122G=)
c.3062G= (p.Gly1021=)
c.3116G= (p.Gly1039=)
c.1469G=
c.*2438G= (n.*2438G=)
c.230+9738G=
c.3146G= (p.Gly1049=)
c.3041G= (p.Gly1014=)
c.3032G= (p.Gly1011=)
c.2993G= (p.Gly998=)
c.2939G= (p.Gly980=)
c.2843G= (p.Gly948=)
c.2813G= (p.Gly938=)
c.2738G= (p.Gly913=)
c.2636G= (p.Gly879=)
c.2267G= (p.Gly756=)
5g.112838710G>TCA16028163APCc.2781G>T (n.2781G>T)
c.3170G>T (p.Gly1057Val)
c.*3122G>T (n.*3122G>T)
c.3062G>T (p.Gly1021Val)
c.3116G>T (p.Gly1039Val)
c.1469G>T
c.*2438G>T (n.*2438G>T)
c.230+9738G>T
c.3146G>T (p.Gly1049Val)
c.3041G>T (p.Gly1014Val)
c.3032G>T (p.Gly1011Val)
c.2993G>T (p.Gly998Val)
c.2939G>T (p.Gly980Val)
c.2843G>T (p.Gly948Val)
c.2813G>T (p.Gly938Val)
c.2738G>T (p.Gly913Val)
c.2636G>T (p.Gly879Val)
c.2267G>T (p.Gly756Val)
 ClinVar dbSNP
5g.112838711A=CA1573486122APCc.2782A= (n.2782A=)
c.3171A= (p.Gly1057=)
c.*3123A= (n.*3123A=)
c.3063A= (p.Gly1021=)
c.3117A= (p.Gly1039=)
c.1470A=
c.*2439A= (n.*2439A=)
c.230+9739A=
c.3147A= (p.Gly1049=)
c.3042A= (p.Gly1014=)
c.3033A= (p.Gly1011=)
c.2994A= (p.Gly998=)
c.2940A= (p.Gly980=)
c.2844A= (p.Gly948=)
c.2814A= (p.Gly938=)
c.2739A= (p.Gly913=)
c.2637A= (p.Gly879=)
c.2268A= (p.Gly756=)
5g.112838711A>CCA445963185APCc.2782A>C (n.2782A>C)
c.3171A>C (p.Gly1057=)
c.*3123A>C (n.*3123A>C)
c.3063A>C (p.Gly1021=)
c.3117A>C (p.Gly1039=)
c.1470A>C
c.*2439A>C (n.*2439A>C)
c.230+9739A>C
c.3147A>C (p.Gly1049=)
c.3042A>C (p.Gly1014=)
c.3033A>C (p.Gly1011=)
c.2994A>C (p.Gly998=)
c.2940A>C (p.Gly980=)
c.2844A>C (p.Gly948=)
c.2814A>C (p.Gly938=)
c.2739A>C (p.Gly913=)
c.2637A>C (p.Gly879=)
c.2268A>C (p.Gly756=)
 ClinVar dbSNP
5g.112838711A>GCA445963186APCc.2782A>G (n.2782A>G)
c.3171A>G (p.Gly1057=)
c.*3123A>G (n.*3123A>G)
c.3063A>G (p.Gly1021=)
c.3117A>G (p.Gly1039=)
c.1470A>G
c.*2439A>G (n.*2439A>G)
c.230+9739A>G
c.3147A>G (p.Gly1049=)
c.3042A>G (p.Gly1014=)
c.3033A>G (p.Gly1011=)
c.2994A>G (p.Gly998=)
c.2940A>G (p.Gly980=)
c.2844A>G (p.Gly948=)
c.2814A>G (p.Gly938=)
c.2739A>G (p.Gly913=)
c.2637A>G (p.Gly879=)
c.2268A>G (p.Gly756=)
 ClinVar dbSNP gnomAD v4
5g.112838711A>TCA445963187APCc.2782A>T (n.2782A>T)
c.3171A>T (p.Gly1057=)
c.*3123A>T (n.*3123A>T)
c.3063A>T (p.Gly1021=)
c.3117A>T (p.Gly1039=)
c.1470A>T
c.*2439A>T (n.*2439A>T)
c.230+9739A>T
c.3147A>T (p.Gly1049=)
c.3042A>T (p.Gly1014=)
c.3033A>T (p.Gly1011=)
c.2994A>T (p.Gly998=)
c.2940A>T (p.Gly980=)
c.2844A>T (p.Gly948=)
c.2814A>T (p.Gly938=)
c.2739A>T (p.Gly913=)
c.2637A>T (p.Gly879=)
c.2268A>T (p.Gly756=)
 dbSNP
5g.112838712A=CA1573486130APCc.2783A= (n.2783A=)
c.3172A= (p.Arg1058=)
c.*3124A= (n.*3124A=)
c.3064A= (p.Arg1022=)
c.3118A= (p.Arg1040=)
c.1471A=
c.*2440A= (n.*2440A=)
c.230+9740A=
c.3148A= (p.Arg1050=)
c.3043A= (p.Arg1015=)
c.3034A= (p.Arg1012=)
c.2995A= (p.Arg999=)
c.2941A= (p.Arg981=)
c.2845A= (p.Arg949=)
c.2815A= (p.Arg939=)
c.2740A= (p.Arg914=)
c.2638A= (p.Arg880=)
c.2269A= (p.Arg757=)
5g.112838712A>CCA445963188APCc.2783A>C (n.2783A>C)
c.3172A>C (p.Arg1058=)
c.*3124A>C (n.*3124A>C)
c.3064A>C (p.Arg1022=)
c.3118A>C (p.Arg1040=)
c.1471A>C
c.*2440A>C (n.*2440A>C)
c.230+9740A>C
c.3148A>C (p.Arg1050=)
c.3043A>C (p.Arg1015=)
c.3034A>C (p.Arg1012=)
c.2995A>C (p.Arg999=)
c.2941A>C (p.Arg981=)
c.2845A>C (p.Arg949=)
c.2815A>C (p.Arg939=)
c.2740A>C (p.Arg914=)
c.2638A>C (p.Arg880=)
c.2269A>C (p.Arg757=)
 dbSNP
5g.112838712A>GCA16028164APCc.2783A>G (n.2783A>G)
c.3172A>G (p.Arg1058Gly)
c.*3124A>G (n.*3124A>G)
c.3064A>G (p.Arg1022Gly)
c.3118A>G (p.Arg1040Gly)
c.1471A>G
c.*2440A>G (n.*2440A>G)
c.230+9740A>G
c.3148A>G (p.Arg1050Gly)
c.3043A>G (p.Arg1015Gly)
c.3034A>G (p.Arg1012Gly)
c.2995A>G (p.Arg999Gly)
c.2941A>G (p.Arg981Gly)
c.2845A>G (p.Arg949Gly)
c.2815A>G (p.Arg939Gly)
c.2740A>G (p.Arg914Gly)
c.2638A>G (p.Arg880Gly)
c.2269A>G (p.Arg757Gly)
5g.112838712A>TCA008046APCc.2783A>T (n.2783A>T)
c.3172A>T (p.Arg1058Trp)
c.*3124A>T (n.*3124A>T)
c.3064A>T (p.Arg1022Trp)
c.3118A>T (p.Arg1040Trp)
c.1471A>T
c.*2440A>T (n.*2440A>T)
c.230+9740A>T
c.3148A>T (p.Arg1050Trp)
c.3043A>T (p.Arg1015Trp)
c.3034A>T (p.Arg1012Trp)
c.2995A>T (p.Arg999Trp)
c.2941A>T (p.Arg981Trp)
c.2845A>T (p.Arg949Trp)
c.2815A>T (p.Arg939Trp)
c.2740A>T (p.Arg914Trp)
c.2638A>T (p.Arg880Trp)
c.2269A>T (p.Arg757Trp)
 ClinVar dbSNP gnomAD v4
5g.112838713G>ACA16028165APCc.2784G>A (n.2784G>A)
c.3173G>A (p.Arg1058Lys)
c.*3125G>A (n.*3125G>A)
c.3065G>A (p.Arg1022Lys)
c.3119G>A (p.Arg1040Lys)
c.1472G>A
c.*2441G>A (n.*2441G>A)
c.230+9741G>A
c.3149G>A (p.Arg1050Lys)
c.3044G>A (p.Arg1015Lys)
c.3035G>A (p.Arg1012Lys)
c.2996G>A (p.Arg999Lys)
c.2942G>A (p.Arg981Lys)
c.2846G>A (p.Arg949Lys)
c.2816G>A (p.Arg939Lys)
c.2741G>A (p.Arg914Lys)
c.2639G>A (p.Arg880Lys)
c.2270G>A (p.Arg757Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.112838713G>CCA16028166APCc.2784G>C (n.2784G>C)
c.3173G>C (p.Arg1058Thr)
c.*3125G>C (n.*3125G>C)
c.3065G>C (p.Arg1022Thr)
c.3119G>C (p.Arg1040Thr)
c.1472G>C
c.*2441G>C (n.*2441G>C)
c.230+9741G>C
c.3149G>C (p.Arg1050Thr)
c.3044G>C (p.Arg1015Thr)
c.3035G>C (p.Arg1012Thr)
c.2996G>C (p.Arg999Thr)
c.2942G>C (p.Arg981Thr)
c.2846G>C (p.Arg949Thr)
c.2816G>C (p.Arg939Thr)
c.2741G>C (p.Arg914Thr)
c.2639G>C (p.Arg880Thr)
c.2270G>C (p.Arg757Thr)
 dbSNP COSMIC
5g.112838713G=CA1573486136APCc.2784G= (n.2784G=)
c.3173G= (p.Arg1058=)
c.*3125G= (n.*3125G=)
c.3065G= (p.Arg1022=)
c.3119G= (p.Arg1040=)
c.1472G=
c.*2441G= (n.*2441G=)
c.230+9741G=
c.3149G= (p.Arg1050=)
c.3044G= (p.Arg1015=)
c.3035G= (p.Arg1012=)
c.2996G= (p.Arg999=)
c.2942G= (p.Arg981=)
c.2846G= (p.Arg949=)
c.2816G= (p.Arg939=)
c.2741G= (p.Arg914=)
c.2639G= (p.Arg880=)
c.2270G= (p.Arg757=)
5g.112838713G>TCA16028167APCc.2784G>T (n.2784G>T)
c.3173G>T (p.Arg1058Met)
c.*3125G>T (n.*3125G>T)
c.3065G>T (p.Arg1022Met)
c.3119G>T (p.Arg1040Met)
c.1472G>T
c.*2441G>T (n.*2441G>T)
c.230+9741G>T
c.3149G>T (p.Arg1050Met)
c.3044G>T (p.Arg1015Met)
c.3035G>T (p.Arg1012Met)
c.2996G>T (p.Arg999Met)
c.2942G>T (p.Arg981Met)
c.2846G>T (p.Arg949Met)
c.2816G>T (p.Arg939Met)
c.2741G>T (p.Arg914Met)
c.2639G>T (p.Arg880Met)
c.2270G>T (p.Arg757Met)
 dbSNP gnomAD v4
5g.112838714G>ACA445963189APCc.2785G>A (n.2785G>A)
c.3174G>A (p.Arg1058=)
c.*3126G>A (n.*3126G>A)
c.3066G>A (p.Arg1022=)
c.3120G>A (p.Arg1040=)
c.1473G>A
c.*2442G>A (n.*2442G>A)
c.230+9742G>A
c.3150G>A (p.Arg1050=)
c.3045G>A (p.Arg1015=)
c.3036G>A (p.Arg1012=)
c.2997G>A (p.Arg999=)
c.2943G>A (p.Arg981=)
c.2847G>A (p.Arg949=)
c.2817G>A (p.Arg939=)
c.2742G>A (p.Arg914=)
c.2640G>A (p.Arg880=)
c.2271G>A (p.Arg757=)
 ClinVar dbSNP gnomAD v4
5g.112838714G>CCA16028168APCc.2785G>C (n.2785G>C)
c.3174G>C (p.Arg1058Ser)
c.*3126G>C (n.*3126G>C)
c.3066G>C (p.Arg1022Ser)
c.3120G>C (p.Arg1040Ser)
c.1473G>C
c.*2442G>C (n.*2442G>C)
c.230+9742G>C
c.3150G>C (p.Arg1050Ser)
c.3045G>C (p.Arg1015Ser)
c.3036G>C (p.Arg1012Ser)
c.2997G>C (p.Arg999Ser)
c.2943G>C (p.Arg981Ser)
c.2847G>C (p.Arg949Ser)
c.2817G>C (p.Arg939Ser)
c.2742G>C (p.Arg914Ser)
c.2640G>C (p.Arg880Ser)
c.2271G>C (p.Arg757Ser)
 dbSNP
5g.112838714G>TCA16028169APCc.2785G>T (n.2785G>T)
c.3174G>T (p.Arg1058Ser)
c.*3126G>T (n.*3126G>T)
c.3066G>T (p.Arg1022Ser)
c.3120G>T (p.Arg1040Ser)
c.1473G>T
c.*2442G>T (n.*2442G>T)
c.230+9742G>T
c.3150G>T (p.Arg1050Ser)
c.3045G>T (p.Arg1015Ser)
c.3036G>T (p.Arg1012Ser)
c.2997G>T (p.Arg999Ser)
c.2943G>T (p.Arg981Ser)
c.2847G>T (p.Arg949Ser)
c.2817G>T (p.Arg939Ser)
c.2742G>T (p.Arg914Ser)
c.2640G>T (p.Arg880Ser)
c.2271G>T (p.Arg757Ser)
 dbSNP COSMIC
5g.112838715C>ACA16028170APCc.2786C>A (n.2786C>A)
c.3175C>A (p.Gln1059Lys)
c.*3127C>A (n.*3127C>A)
c.3067C>A (p.Gln1023Lys)
c.3121C>A (p.Gln1041Lys)
c.1474C>A
c.*2443C>A (n.*2443C>A)
c.230+9743C>A
c.3151C>A (p.Gln1051Lys)
c.3046C>A (p.Gln1016Lys)
c.3037C>A (p.Gln1013Lys)
c.2998C>A (p.Gln1000Lys)
c.2944C>A (p.Gln982Lys)
c.2848C>A (p.Gln950Lys)
c.2818C>A (p.Gln940Lys)
c.2743C>A (p.Gln915Lys)
c.2641C>A (p.Gln881Lys)
c.2272C>A (p.Gln758Lys)
 dbSNP
5g.112838715C=CA1573486143APCc.2786C= (n.2786C=)
c.3175C= (p.Gln1059=)
c.*3127C= (n.*3127C=)
c.3067C= (p.Gln1023=)
c.3121C= (p.Gln1041=)
c.1474C=
c.*2443C= (n.*2443C=)
c.230+9743C=
c.3151C= (p.Gln1051=)
c.3046C= (p.Gln1016=)
c.3037C= (p.Gln1013=)
c.2998C= (p.Gln1000=)
c.2944C= (p.Gln982=)
c.2848C= (p.Gln950=)
c.2818C= (p.Gln940=)
c.2743C= (p.Gln915=)
c.2641C= (p.Gln881=)
c.2272C= (p.Gln758=)
5g.112838715C>GCA16028171APCc.2786C>G (n.2786C>G)
c.3175C>G (p.Gln1059Glu)
c.*3127C>G (n.*3127C>G)
c.3067C>G (p.Gln1023Glu)
c.3121C>G (p.Gln1041Glu)
c.1474C>G
c.*2443C>G (n.*2443C>G)
c.230+9743C>G
c.3151C>G (p.Gln1051Glu)
c.3046C>G (p.Gln1016Glu)
c.3037C>G (p.Gln1013Glu)
c.2998C>G (p.Gln1000Glu)
c.2944C>G (p.Gln982Glu)
c.2848C>G (p.Gln950Glu)
c.2818C>G (p.Gln940Glu)
c.2743C>G (p.Gln915Glu)
c.2641C>G (p.Gln881Glu)
c.2272C>G (p.Gln758Glu)
 dbSNP COSMIC
5g.112838715C>TCA16028172APCc.2786C>T (n.2786C>T)
c.3175C>T (p.Gln1059Ter)
c.*3127C>T (n.*3127C>T)
c.3067C>T (p.Gln1023Ter)
c.3121C>T (p.Gln1041Ter)
c.1474C>T
c.*2443C>T (n.*2443C>T)
c.230+9743C>T
c.3151C>T (p.Gln1051Ter)
c.3046C>T (p.Gln1016Ter)
c.3037C>T (p.Gln1013Ter)
c.2998C>T (p.Gln1000Ter)
c.2944C>T (p.Gln982Ter)
c.2848C>T (p.Gln950Ter)
c.2818C>T (p.Gln940Ter)
c.2743C>T (p.Gln915Ter)
c.2641C>T (p.Gln881Ter)
c.2272C>T (p.Gln758Ter)
 ClinVar dbSNP COSMIC
5g.112838715_112838717delinsCAACA1573486140APCc.2786_2788delinsCAA (n.2786_2788delinsCAA)
c.3175_3177delinsCAA (p.Gln1059=)
c.*3127_*3129delinsCAA (n.*3127_*3129delinsCAA)
c.3067_3069delinsCAA (p.Gln1023=)
c.3121_3123delinsCAA (p.Gln1041=)
c.1474_1476delinsCAA
c.*2443_*2445delinsCAA (n.*2443_*2445delinsCAA)
c.230+9743_230+9745delinsCAA
c.3151_3153delinsCAA (p.Gln1051=)
c.3046_3048delinsCAA (p.Gln1016=)
c.3037_3039delinsCAA (p.Gln1013=)
c.2998_3000delinsCAA (p.Gln1000=)
c.2944_2946delinsCAA (p.Gln982=)
c.2848_2850delinsCAA (p.Gln950=)
c.2818_2820delinsCAA (p.Gln940=)
c.2743_2745delinsCAA (p.Gln915=)
c.2641_2643delinsCAA (p.Gln881=)
c.2272_2274delinsCAA (p.Gln758=)

Number of alleles fetched