Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112838910_112838913dupCA658760903APCc.2981_2984dup (n.2981_2984dup)
c.3370_3373dup (p.Ala1125GlyfsTer13)
c.*3322_*3325dup (n.*3322_*3325dup)
c.3262_3265dup (p.Ala1089GlyfsTer13)
c.3316_3319dup (p.Ala1107GlyfsTer13)
c.1669_1672dup
c.*2638_*2641dup (n.*2638_*2641dup)
c.230+9938_230+9941dup
c.3346_3349dup (p.Ala1117GlyfsTer13)
c.3241_3244dup (p.Ala1082GlyfsTer13)
c.3232_3235dup (p.Ala1079GlyfsTer13)
c.3193_3196dup (p.Ala1066GlyfsTer13)
c.3139_3142dup (p.Ala1048GlyfsTer13)
c.3043_3046dup (p.Ala1016GlyfsTer13)
c.3013_3016dup (p.Ala1006GlyfsTer13)
c.2938_2941dup (p.Ala981GlyfsTer13)
c.2836_2839dup (p.Ala947GlyfsTer13)
c.2467_2470dup (p.Ala824GlyfsTer13)
5g.112838912_112838913delCA658760904APCc.2983_2984del (n.2983_2984del)
c.3372_3373del (p.Ala1125GlnfsTer11)
c.*3324_*3325del (n.*3324_*3325del)
c.3264_3265del (p.Ala1089GlnfsTer11)
c.3318_3319del (p.Ala1107GlnfsTer11)
c.1671_1672del
c.*2640_*2641del (n.*2640_*2641del)
c.230+9940_230+9941del
c.3348_3349del (p.Ala1117GlnfsTer11)
c.3243_3244del (p.Ala1082GlnfsTer11)
c.3234_3235del (p.Ala1079GlnfsTer11)
c.3195_3196del (p.Ala1066GlnfsTer11)
c.3141_3142del (p.Ala1048GlnfsTer11)
c.3045_3046del (p.Ala1016GlnfsTer11)
c.3015_3016del (p.Ala1006GlnfsTer11)
c.2940_2941del (p.Ala981GlnfsTer11)
c.2838_2839del (p.Ala947GlnfsTer11)
c.2469_2470del (p.Ala824GlnfsTer11)
5g.112838913G>ACA16028612APCc.2984G>A (n.2984G>A)
c.3373G>A (p.Ala1125Thr)
c.*3325G>A (n.*3325G>A)
c.3265G>A (p.Ala1089Thr)
c.3319G>A (p.Ala1107Thr)
c.1672G>A
c.*2641G>A (n.*2641G>A)
c.230+9941G>A
c.3349G>A (p.Ala1117Thr)
c.3244G>A (p.Ala1082Thr)
c.3235G>A (p.Ala1079Thr)
c.3196G>A (p.Ala1066Thr)
c.3142G>A (p.Ala1048Thr)
c.3046G>A (p.Ala1016Thr)
c.3016G>A (p.Ala1006Thr)
c.2941G>A (p.Ala981Thr)
c.2839G>A (p.Ala947Thr)
c.2470G>A (p.Ala824Thr)
 dbSNP
5g.112838913G>CCA16028613APCc.2984G>C (n.2984G>C)
c.3373G>C (p.Ala1125Pro)
c.*3325G>C (n.*3325G>C)
c.3265G>C (p.Ala1089Pro)
c.3319G>C (p.Ala1107Pro)
c.1672G>C
c.*2641G>C (n.*2641G>C)
c.230+9941G>C
c.3349G>C (p.Ala1117Pro)
c.3244G>C (p.Ala1082Pro)
c.3235G>C (p.Ala1079Pro)
c.3196G>C (p.Ala1066Pro)
c.3142G>C (p.Ala1048Pro)
c.3046G>C (p.Ala1016Pro)
c.3016G>C (p.Ala1006Pro)
c.2941G>C (p.Ala981Pro)
c.2839G>C (p.Ala947Pro)
c.2470G>C (p.Ala824Pro)
5g.112838913G=CA1573487595APCc.2984G= (n.2984G=)
c.3373G= (p.Ala1125=)
c.*3325G= (n.*3325G=)
c.3265G= (p.Ala1089=)
c.3319G= (p.Ala1107=)
c.1672G=
c.*2641G= (n.*2641G=)
c.230+9941G=
c.3349G= (p.Ala1117=)
c.3244G= (p.Ala1082=)
c.3235G= (p.Ala1079=)
c.3196G= (p.Ala1066=)
c.3142G= (p.Ala1048=)
c.3046G= (p.Ala1016=)
c.3016G= (p.Ala1006=)
c.2941G= (p.Ala981=)
c.2839G= (p.Ala947=)
c.2470G= (p.Ala824=)
5g.112838913G>TCA16028614APCc.2984G>T (n.2984G>T)
c.3373G>T (p.Ala1125Ser)
c.*3325G>T (n.*3325G>T)
c.3265G>T (p.Ala1089Ser)
c.3319G>T (p.Ala1107Ser)
c.1672G>T
c.*2641G>T (n.*2641G>T)
c.230+9941G>T
c.3349G>T (p.Ala1117Ser)
c.3244G>T (p.Ala1082Ser)
c.3235G>T (p.Ala1079Ser)
c.3196G>T (p.Ala1066Ser)
c.3142G>T (p.Ala1048Ser)
c.3046G>T (p.Ala1016Ser)
c.3016G>T (p.Ala1006Ser)
c.2941G>T (p.Ala981Ser)
c.2839G>T (p.Ala947Ser)
c.2470G>T (p.Ala824Ser)
 ClinVar dbSNP
5g.112838914C>ACA16028615APCc.2985C>A (n.2985C>A)
c.3374C>A (p.Ala1125Asp)
c.*3326C>A (n.*3326C>A)
c.3266C>A (p.Ala1089Asp)
c.3320C>A (p.Ala1107Asp)
c.1673C>A
c.*2642C>A (n.*2642C>A)
c.230+9942C>A
c.3350C>A (p.Ala1117Asp)
c.3245C>A (p.Ala1082Asp)
c.3236C>A (p.Ala1079Asp)
c.3197C>A (p.Ala1066Asp)
c.3143C>A (p.Ala1048Asp)
c.3047C>A (p.Ala1016Asp)
c.3017C>A (p.Ala1006Asp)
c.2942C>A (p.Ala981Asp)
c.2840C>A (p.Ala947Asp)
c.2471C>A (p.Ala824Asp)
 dbSNP
5g.112838914C=CA1573487600APCc.2985C= (n.2985C=)
c.3374C= (p.Ala1125=)
c.*3326C= (n.*3326C=)
c.3266C= (p.Ala1089=)
c.3320C= (p.Ala1107=)
c.1673C=
c.*2642C= (n.*2642C=)
c.230+9942C=
c.3350C= (p.Ala1117=)
c.3245C= (p.Ala1082=)
c.3236C= (p.Ala1079=)
c.3197C= (p.Ala1066=)
c.3143C= (p.Ala1048=)
c.3047C= (p.Ala1016=)
c.3017C= (p.Ala1006=)
c.2942C= (p.Ala981=)
c.2840C= (p.Ala947=)
c.2471C= (p.Ala824=)
5g.112838914C>GCA16028616APCc.2985C>G (n.2985C>G)
c.3374C>G (p.Ala1125Gly)
c.*3326C>G (n.*3326C>G)
c.3266C>G (p.Ala1089Gly)
c.3320C>G (p.Ala1107Gly)
c.1673C>G
c.*2642C>G (n.*2642C>G)
c.230+9942C>G
c.3350C>G (p.Ala1117Gly)
c.3245C>G (p.Ala1082Gly)
c.3236C>G (p.Ala1079Gly)
c.3197C>G (p.Ala1066Gly)
c.3143C>G (p.Ala1048Gly)
c.3047C>G (p.Ala1016Gly)
c.3017C>G (p.Ala1006Gly)
c.2942C>G (p.Ala981Gly)
c.2840C>G (p.Ala947Gly)
c.2471C>G (p.Ala824Gly)
 dbSNP
5g.112838914C>TCA16028617APCc.2985C>T (n.2985C>T)
c.3374C>T (p.Ala1125Val)
c.*3326C>T (n.*3326C>T)
c.3266C>T (p.Ala1089Val)
c.3320C>T (p.Ala1107Val)
c.1673C>T
c.*2642C>T (n.*2642C>T)
c.230+9942C>T
c.3350C>T (p.Ala1117Val)
c.3245C>T (p.Ala1082Val)
c.3236C>T (p.Ala1079Val)
c.3197C>T (p.Ala1066Val)
c.3143C>T (p.Ala1048Val)
c.3047C>T (p.Ala1016Val)
c.3017C>T (p.Ala1006Val)
c.2942C>T (p.Ala981Val)
c.2840C>T (p.Ala947Val)
c.2471C>T (p.Ala824Val)
 ClinVar dbSNP COSMIC
5g.112838915C>ACA445963614APCc.2986C>A (n.2986C>A)
c.3375C>A (p.Ala1125=)
c.*3327C>A (n.*3327C>A)
c.3267C>A (p.Ala1089=)
c.3321C>A (p.Ala1107=)
c.1674C>A
c.*2643C>A (n.*2643C>A)
c.230+9943C>A
c.3351C>A (p.Ala1117=)
c.3246C>A (p.Ala1082=)
c.3237C>A (p.Ala1079=)
c.3198C>A (p.Ala1066=)
c.3144C>A (p.Ala1048=)
c.3048C>A (p.Ala1016=)
c.3018C>A (p.Ala1006=)
c.2943C>A (p.Ala981=)
c.2841C>A (p.Ala947=)
c.2472C>A (p.Ala824=)
 ClinVar dbSNP
5g.112838915C>GCA445963615APCc.2986C>G (n.2986C>G)
c.3375C>G (p.Ala1125=)
c.*3327C>G (n.*3327C>G)
c.3267C>G (p.Ala1089=)
c.3321C>G (p.Ala1107=)
c.1674C>G
c.*2643C>G (n.*2643C>G)
c.230+9943C>G
c.3351C>G (p.Ala1117=)
c.3246C>G (p.Ala1082=)
c.3237C>G (p.Ala1079=)
c.3198C>G (p.Ala1066=)
c.3144C>G (p.Ala1048=)
c.3048C>G (p.Ala1016=)
c.3018C>G (p.Ala1006=)
c.2943C>G (p.Ala981=)
c.2841C>G (p.Ala947=)
c.2472C>G (p.Ala824=)
 dbSNP
5g.112838915C>TCA445963616APCc.2986C>T (n.2986C>T)
c.3375C>T (p.Ala1125=)
c.*3327C>T (n.*3327C>T)
c.3267C>T (p.Ala1089=)
c.3321C>T (p.Ala1107=)
c.1674C>T
c.*2643C>T (n.*2643C>T)
c.230+9943C>T
c.3351C>T (p.Ala1117=)
c.3246C>T (p.Ala1082=)
c.3237C>T (p.Ala1079=)
c.3198C>T (p.Ala1066=)
c.3144C>T (p.Ala1048=)
c.3048C>T (p.Ala1016=)
c.3018C>T (p.Ala1006=)
c.2943C>T (p.Ala981=)
c.2841C>T (p.Ala947=)
c.2472C>T (p.Ala824=)
 ClinVar dbSNP
5g.112838916A=CA1573487606APCc.2987A= (n.2987A=)
c.3376A= (p.Asn1126=)
c.*3328A= (n.*3328A=)
c.3268A= (p.Asn1090=)
c.3322A= (p.Asn1108=)
c.1675A=
c.*2644A= (n.*2644A=)
c.230+9944A=
c.3352A= (p.Asn1118=)
c.3247A= (p.Asn1083=)
c.3238A= (p.Asn1080=)
c.3199A= (p.Asn1067=)
c.3145A= (p.Asn1049=)
c.3049A= (p.Asn1017=)
c.3019A= (p.Asn1007=)
c.2944A= (p.Asn982=)
c.2842A= (p.Asn948=)
c.2473A= (p.Asn825=)
5g.112838916A>CCA16028618APCc.2987A>C (n.2987A>C)
c.3376A>C (p.Asn1126His)
c.*3328A>C (n.*3328A>C)
c.3268A>C (p.Asn1090His)
c.3322A>C (p.Asn1108His)
c.1675A>C
c.*2644A>C (n.*2644A>C)
c.230+9944A>C
c.3352A>C (p.Asn1118His)
c.3247A>C (p.Asn1083His)
c.3238A>C (p.Asn1080His)
c.3199A>C (p.Asn1067His)
c.3145A>C (p.Asn1049His)
c.3049A>C (p.Asn1017His)
c.3019A>C (p.Asn1007His)
c.2944A>C (p.Asn982His)
c.2842A>C (p.Asn948His)
c.2473A>C (p.Asn825His)
5g.112838916A>GCA16028619APCc.2987A>G (n.2987A>G)
c.3376A>G (p.Asn1126Asp)
c.*3328A>G (n.*3328A>G)
c.3268A>G (p.Asn1090Asp)
c.3322A>G (p.Asn1108Asp)
c.1675A>G
c.*2644A>G (n.*2644A>G)
c.230+9944A>G
c.3352A>G (p.Asn1118Asp)
c.3247A>G (p.Asn1083Asp)
c.3238A>G (p.Asn1080Asp)
c.3199A>G (p.Asn1067Asp)
c.3145A>G (p.Asn1049Asp)
c.3049A>G (p.Asn1017Asp)
c.3019A>G (p.Asn1007Asp)
c.2944A>G (p.Asn982Asp)
c.2842A>G (p.Asn948Asp)
c.2473A>G (p.Asn825Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.112838916A>TCA16028620APCc.2987A>T (n.2987A>T)
c.3376A>T (p.Asn1126Tyr)
c.*3328A>T (n.*3328A>T)
c.3268A>T (p.Asn1090Tyr)
c.3322A>T (p.Asn1108Tyr)
c.1675A>T
c.*2644A>T (n.*2644A>T)
c.230+9944A>T
c.3352A>T (p.Asn1118Tyr)
c.3247A>T (p.Asn1083Tyr)
c.3238A>T (p.Asn1080Tyr)
c.3199A>T (p.Asn1067Tyr)
c.3145A>T (p.Asn1049Tyr)
c.3049A>T (p.Asn1017Tyr)
c.3019A>T (p.Asn1007Tyr)
c.2944A>T (p.Asn982Tyr)
c.2842A>T (p.Asn948Tyr)
c.2473A>T (p.Asn825Tyr)
 dbSNP
5g.112838917A=CA1573487607APCc.2988A= (n.2988A=)
c.3377A= (p.Asn1126=)
c.*3329A= (n.*3329A=)
c.3269A= (p.Asn1090=)
c.3323A= (p.Asn1108=)
c.1676A=
c.*2645A= (n.*2645A=)
c.230+9945A=
c.3353A= (p.Asn1118=)
c.3248A= (p.Asn1083=)
c.3239A= (p.Asn1080=)
c.3200A= (p.Asn1067=)
c.3146A= (p.Asn1049=)
c.3050A= (p.Asn1017=)
c.3020A= (p.Asn1007=)
c.2945A= (p.Asn982=)
c.2843A= (p.Asn948=)
c.2474A= (p.Asn825=)
5g.112838917A>CCA16028621APCc.2988A>C (n.2988A>C)
c.3377A>C (p.Asn1126Thr)
c.*3329A>C (n.*3329A>C)
c.3269A>C (p.Asn1090Thr)
c.3323A>C (p.Asn1108Thr)
c.1676A>C
c.*2645A>C (n.*2645A>C)
c.230+9945A>C
c.3353A>C (p.Asn1118Thr)
c.3248A>C (p.Asn1083Thr)
c.3239A>C (p.Asn1080Thr)
c.3200A>C (p.Asn1067Thr)
c.3146A>C (p.Asn1049Thr)
c.3050A>C (p.Asn1017Thr)
c.3020A>C (p.Asn1007Thr)
c.2945A>C (p.Asn982Thr)
c.2843A>C (p.Asn948Thr)
c.2474A>C (p.Asn825Thr)
5g.112838917A>GCA035035APCc.2988A>G (n.2988A>G)
c.3377A>G (p.Asn1126Ser)
c.*3329A>G (n.*3329A>G)
c.3269A>G (p.Asn1090Ser)
c.3323A>G (p.Asn1108Ser)
c.1676A>G
c.*2645A>G (n.*2645A>G)
c.230+9945A>G
c.3353A>G (p.Asn1118Ser)
c.3248A>G (p.Asn1083Ser)
c.3239A>G (p.Asn1080Ser)
c.3200A>G (p.Asn1067Ser)
c.3146A>G (p.Asn1049Ser)
c.3050A>G (p.Asn1017Ser)
c.3020A>G (p.Asn1007Ser)
c.2945A>G (p.Asn982Ser)
c.2843A>G (p.Asn948Ser)
c.2474A>G (p.Asn825Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838917A>TCA16028622APCc.2988A>T (n.2988A>T)
c.3377A>T (p.Asn1126Ile)
c.*3329A>T (n.*3329A>T)
c.3269A>T (p.Asn1090Ile)
c.3323A>T (p.Asn1108Ile)
c.1676A>T
c.*2645A>T (n.*2645A>T)
c.230+9945A>T
c.3353A>T (p.Asn1118Ile)
c.3248A>T (p.Asn1083Ile)
c.3239A>T (p.Asn1080Ile)
c.3200A>T (p.Asn1067Ile)
c.3146A>T (p.Asn1049Ile)
c.3050A>T (p.Asn1017Ile)
c.3020A>T (p.Asn1007Ile)
c.2945A>T (p.Asn982Ile)
c.2843A>T (p.Asn948Ile)
c.2474A>T (p.Asn825Ile)
 ClinVar dbSNP gnomAD v4
5g.112838918T>ACA16028623APCc.2989T>A (n.2989T>A)
c.3378T>A (p.Asn1126Lys)
c.*3330T>A (n.*3330T>A)
c.3270T>A (p.Asn1090Lys)
c.3324T>A (p.Asn1108Lys)
c.1677T>A
c.*2646T>A (n.*2646T>A)
c.230+9946T>A
c.3354T>A (p.Asn1118Lys)
c.3249T>A (p.Asn1083Lys)
c.3240T>A (p.Asn1080Lys)
c.3201T>A (p.Asn1067Lys)
c.3147T>A (p.Asn1049Lys)
c.3051T>A (p.Asn1017Lys)
c.3021T>A (p.Asn1007Lys)
c.2946T>A (p.Asn982Lys)
c.2844T>A (p.Asn948Lys)
c.2475T>A (p.Asn825Lys)
5g.112838918T>CCA445963618APCc.2989T>C (n.2989T>C)
c.3378T>C (p.Asn1126=)
c.*3330T>C (n.*3330T>C)
c.3270T>C (p.Asn1090=)
c.3324T>C (p.Asn1108=)
c.1677T>C
c.*2646T>C (n.*2646T>C)
c.230+9946T>C
c.3354T>C (p.Asn1118=)
c.3249T>C (p.Asn1083=)
c.3240T>C (p.Asn1080=)
c.3201T>C (p.Asn1067=)
c.3147T>C (p.Asn1049=)
c.3051T>C (p.Asn1017=)
c.3021T>C (p.Asn1007=)
c.2946T>C (p.Asn982=)
c.2844T>C (p.Asn948=)
c.2475T>C (p.Asn825=)
 ClinVar
5g.112838918T>GCA16028624APCc.2989T>G (n.2989T>G)
c.3378T>G (p.Asn1126Lys)
c.*3330T>G (n.*3330T>G)
c.3270T>G (p.Asn1090Lys)
c.3324T>G (p.Asn1108Lys)
c.1677T>G
c.*2646T>G (n.*2646T>G)
c.230+9946T>G
c.3354T>G (p.Asn1118Lys)
c.3249T>G (p.Asn1083Lys)
c.3240T>G (p.Asn1080Lys)
c.3201T>G (p.Asn1067Lys)
c.3147T>G (p.Asn1049Lys)
c.3051T>G (p.Asn1017Lys)
c.3021T>G (p.Asn1007Lys)
c.2946T>G (p.Asn982Lys)
c.2844T>G (p.Asn948Lys)
c.2475T>G (p.Asn825Lys)
 ClinVar dbSNP
5g.112838918T=CA1573487610APCc.2989T= (n.2989T=)
c.3378T= (p.Asn1126=)
c.*3330T= (n.*3330T=)
c.3270T= (p.Asn1090=)
c.3324T= (p.Asn1108=)
c.1677T=
c.*2646T= (n.*2646T=)
c.230+9946T=
c.3354T= (p.Asn1118=)
c.3249T= (p.Asn1083=)
c.3240T= (p.Asn1080=)
c.3201T= (p.Asn1067=)
c.3147T= (p.Asn1049=)
c.3051T= (p.Asn1017=)
c.3021T= (p.Asn1007=)
c.2946T= (p.Asn982=)
c.2844T= (p.Asn948=)
c.2475T= (p.Asn825=)
5g.112838919G>ACA16028625APCc.2990G>A (n.2990G>A)
c.3379G>A (p.Gly1127Ser)
c.*3331G>A (n.*3331G>A)
c.3271G>A (p.Gly1091Ser)
c.3325G>A (p.Gly1109Ser)
c.1678G>A
c.*2647G>A (n.*2647G>A)
c.230+9947G>A
c.3355G>A (p.Gly1119Ser)
c.3250G>A (p.Gly1084Ser)
c.3241G>A (p.Gly1081Ser)
c.3202G>A (p.Gly1068Ser)
c.3148G>A (p.Gly1050Ser)
c.3052G>A (p.Gly1018Ser)
c.3022G>A (p.Gly1008Ser)
c.2947G>A (p.Gly983Ser)
c.2845G>A (p.Gly949Ser)
c.2476G>A (p.Gly826Ser)
 dbSNP
5g.112838919G>CCA16028626APCc.2990G>C (n.2990G>C)
c.3379G>C (p.Gly1127Arg)
c.*3331G>C (n.*3331G>C)
c.3271G>C (p.Gly1091Arg)
c.3325G>C (p.Gly1109Arg)
c.1678G>C
c.*2647G>C (n.*2647G>C)
c.230+9947G>C
c.3355G>C (p.Gly1119Arg)
c.3250G>C (p.Gly1084Arg)
c.3241G>C (p.Gly1081Arg)
c.3202G>C (p.Gly1068Arg)
c.3148G>C (p.Gly1050Arg)
c.3052G>C (p.Gly1018Arg)
c.3022G>C (p.Gly1008Arg)
c.2947G>C (p.Gly983Arg)
c.2845G>C (p.Gly949Arg)
c.2476G>C (p.Gly826Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838919G=CA1573487618APCc.2990G= (n.2990G=)
c.3379G= (p.Gly1127=)
c.*3331G= (n.*3331G=)
c.3271G= (p.Gly1091=)
c.3325G= (p.Gly1109=)
c.1678G=
c.*2647G= (n.*2647G=)
c.230+9947G=
c.3355G= (p.Gly1119=)
c.3250G= (p.Gly1084=)
c.3241G= (p.Gly1081=)
c.3202G= (p.Gly1068=)
c.3148G= (p.Gly1050=)
c.3052G= (p.Gly1018=)
c.3022G= (p.Gly1008=)
c.2947G= (p.Gly983=)
c.2845G= (p.Gly949=)
c.2476G= (p.Gly826=)
5g.112838919G>TCA008272APCc.2990G>T (n.2990G>T)
c.3379G>T (p.Gly1127Cys)
c.*3331G>T (n.*3331G>T)
c.3271G>T (p.Gly1091Cys)
c.3325G>T (p.Gly1109Cys)
c.1678G>T
c.*2647G>T (n.*2647G>T)
c.230+9947G>T
c.3355G>T (p.Gly1119Cys)
c.3250G>T (p.Gly1084Cys)
c.3241G>T (p.Gly1081Cys)
c.3202G>T (p.Gly1068Cys)
c.3148G>T (p.Gly1050Cys)
c.3052G>T (p.Gly1018Cys)
c.3022G>T (p.Gly1008Cys)
c.2947G>T (p.Gly983Cys)
c.2845G>T (p.Gly949Cys)
c.2476G>T (p.Gly826Cys)
 ClinVar dbSNP gnomAD v4
5g.112838919_112838920delCA2582341508APCc.2990_2991del (n.2990_2991del)
c.3379_3380del (p.Gly1127PhefsTer9)
c.*3331_*3332del (n.*3331_*3332del)
c.3271_3272del (p.Gly1091PhefsTer9)
c.3325_3326del (p.Gly1109PhefsTer9)
c.1678_1679del
c.*2647_*2648del (n.*2647_*2648del)
c.230+9947_230+9948del
c.3355_3356del (p.Gly1119PhefsTer9)
c.3250_3251del (p.Gly1084PhefsTer9)
c.3241_3242del (p.Gly1081PhefsTer9)
c.3202_3203del (p.Gly1068PhefsTer9)
c.3148_3149del (p.Gly1050PhefsTer9)
c.3052_3053del (p.Gly1018PhefsTer9)
c.3022_3023del (p.Gly1008PhefsTer9)
c.2947_2948del (p.Gly983PhefsTer9)
c.2845_2846del (p.Gly949PhefsTer9)
c.2476_2477del (p.Gly826PhefsTer9)
 ClinVar
5g.112838920delCA2580072939APCc.2991del (n.2991del)
c.3380del (p.Gly1127ValfsTer17)
c.*3332del (n.*3332del)
c.3272del (p.Gly1091ValfsTer17)
c.3326del (p.Gly1109ValfsTer17)
c.1679del
c.*2648del (n.*2648del)
c.230+9948del
c.3356del (p.Gly1119ValfsTer17)
c.3251del (p.Gly1084ValfsTer17)
c.3242del (p.Gly1081ValfsTer17)
c.3203del (p.Gly1068ValfsTer17)
c.3149del (p.Gly1050ValfsTer17)
c.3053del (p.Gly1018ValfsTer17)
c.3023del (p.Gly1008ValfsTer17)
c.2948del (p.Gly983ValfsTer17)
c.2846del (p.Gly949ValfsTer17)
c.2477del (p.Gly826ValfsTer17)
 ClinVar
5g.112838920G>ACA035052APCc.2991G>A (n.2991G>A)
c.3380G>A (p.Gly1127Asp)
c.*3332G>A (n.*3332G>A)
c.3272G>A (p.Gly1091Asp)
c.3326G>A (p.Gly1109Asp)
c.1679G>A
c.*2648G>A (n.*2648G>A)
c.230+9948G>A
c.3356G>A (p.Gly1119Asp)
c.3251G>A (p.Gly1084Asp)
c.3242G>A (p.Gly1081Asp)
c.3203G>A (p.Gly1068Asp)
c.3149G>A (p.Gly1050Asp)
c.3053G>A (p.Gly1018Asp)
c.3023G>A (p.Gly1008Asp)
c.2948G>A (p.Gly983Asp)
c.2846G>A (p.Gly949Asp)
c.2477G>A (p.Gly826Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838920G>CCA16028627APCc.2991G>C (n.2991G>C)
c.3380G>C (p.Gly1127Ala)
c.*3332G>C (n.*3332G>C)
c.3272G>C (p.Gly1091Ala)
c.3326G>C (p.Gly1109Ala)
c.1679G>C
c.*2648G>C (n.*2648G>C)
c.230+9948G>C
c.3356G>C (p.Gly1119Ala)
c.3251G>C (p.Gly1084Ala)
c.3242G>C (p.Gly1081Ala)
c.3203G>C (p.Gly1068Ala)
c.3149G>C (p.Gly1050Ala)
c.3053G>C (p.Gly1018Ala)
c.3023G>C (p.Gly1008Ala)
c.2948G>C (p.Gly983Ala)
c.2846G>C (p.Gly949Ala)
c.2477G>C (p.Gly826Ala)
 dbSNP
5g.112838920G=CA1573487621APCc.2991G= (n.2991G=)
c.3380G= (p.Gly1127=)
c.*3332G= (n.*3332G=)
c.3272G= (p.Gly1091=)
c.3326G= (p.Gly1109=)
c.1679G=
c.*2648G= (n.*2648G=)
c.230+9948G=
c.3356G= (p.Gly1119=)
c.3251G= (p.Gly1084=)
c.3242G= (p.Gly1081=)
c.3203G= (p.Gly1068=)
c.3149G= (p.Gly1050=)
c.3053G= (p.Gly1018=)
c.3023G= (p.Gly1008=)
c.2948G= (p.Gly983=)
c.2846G= (p.Gly949=)
c.2477G= (p.Gly826=)
5g.112838920G>TCA16028628APCc.2991G>T (n.2991G>T)
c.3380G>T (p.Gly1127Val)
c.*3332G>T (n.*3332G>T)
c.3272G>T (p.Gly1091Val)
c.3326G>T (p.Gly1109Val)
c.1679G>T
c.*2648G>T (n.*2648G>T)
c.230+9948G>T
c.3356G>T (p.Gly1119Val)
c.3251G>T (p.Gly1084Val)
c.3242G>T (p.Gly1081Val)
c.3203G>T (p.Gly1068Val)
c.3149G>T (p.Gly1050Val)
c.3053G>T (p.Gly1018Val)
c.3023G>T (p.Gly1008Val)
c.2948G>T (p.Gly983Val)
c.2846G>T (p.Gly949Val)
c.2477G>T (p.Gly826Val)
 ClinVar dbSNP
5g.112838921T>ACA445963622APCc.2992T>A (n.2992T>A)
c.3381T>A (p.Gly1127=)
c.*3333T>A (n.*3333T>A)
c.3273T>A (p.Gly1091=)
c.3327T>A (p.Gly1109=)
c.1680T>A
c.*2649T>A (n.*2649T>A)
c.230+9949T>A
c.3357T>A (p.Gly1119=)
c.3252T>A (p.Gly1084=)
c.3243T>A (p.Gly1081=)
c.3204T>A (p.Gly1068=)
c.3150T>A (p.Gly1050=)
c.3054T>A (p.Gly1018=)
c.3024T>A (p.Gly1008=)
c.2949T>A (p.Gly983=)
c.2847T>A (p.Gly949=)
c.2478T>A (p.Gly826=)
 dbSNP
5g.112838921T>CCA445963623APCc.2992T>C (n.2992T>C)
c.3381T>C (p.Gly1127=)
c.*3333T>C (n.*3333T>C)
c.3273T>C (p.Gly1091=)
c.3327T>C (p.Gly1109=)
c.1680T>C
c.*2649T>C (n.*2649T>C)
c.230+9949T>C
c.3357T>C (p.Gly1119=)
c.3252T>C (p.Gly1084=)
c.3243T>C (p.Gly1081=)
c.3204T>C (p.Gly1068=)
c.3150T>C (p.Gly1050=)
c.3054T>C (p.Gly1018=)
c.3024T>C (p.Gly1008=)
c.2949T>C (p.Gly983=)
c.2847T>C (p.Gly949=)
c.2478T>C (p.Gly826=)
 dbSNP
5g.112838921T>GCA445963624APCc.2992T>G (n.2992T>G)
c.3381T>G (p.Gly1127=)
c.*3333T>G (n.*3333T>G)
c.3273T>G (p.Gly1091=)
c.3327T>G (p.Gly1109=)
c.1680T>G
c.*2649T>G (n.*2649T>G)
c.230+9949T>G
c.3357T>G (p.Gly1119=)
c.3252T>G (p.Gly1084=)
c.3243T>G (p.Gly1081=)
c.3204T>G (p.Gly1068=)
c.3150T>G (p.Gly1050=)
c.3054T>G (p.Gly1018=)
c.3024T>G (p.Gly1008=)
c.2949T>G (p.Gly983=)
c.2847T>G (p.Gly949=)
c.2478T>G (p.Gly826=)
 dbSNP
5g.112838922delCA2582341509APCc.2993del (n.2993del)
c.3382del (p.Ser1128GlnfsTer16)
c.*3334del (n.*3334del)
c.3274del (p.Ser1092GlnfsTer16)
c.3328del (p.Ser1110GlnfsTer16)
c.1681del
c.*2650del (n.*2650del)
c.230+9950del
c.3358del (p.Ser1120GlnfsTer16)
c.3253del (p.Ser1085GlnfsTer16)
c.3244del (p.Ser1082GlnfsTer16)
c.3205del (p.Ser1069GlnfsTer16)
c.3151del (p.Ser1051GlnfsTer16)
c.3055del (p.Ser1019GlnfsTer16)
c.3025del (p.Ser1009GlnfsTer16)
c.2950del (p.Ser984GlnfsTer16)
c.2848del (p.Ser950GlnfsTer16)
c.2479del (p.Ser827GlnfsTer16)
 ClinVar
5g.112838922T>ACA16028629APCc.2993T>A (n.2993T>A)
c.3382T>A (p.Ser1128Thr)
c.*3334T>A (n.*3334T>A)
c.3274T>A (p.Ser1092Thr)
c.3328T>A (p.Ser1110Thr)
c.1681T>A
c.*2650T>A (n.*2650T>A)
c.230+9950T>A
c.3358T>A (p.Ser1120Thr)
c.3253T>A (p.Ser1085Thr)
c.3244T>A (p.Ser1082Thr)
c.3205T>A (p.Ser1069Thr)
c.3151T>A (p.Ser1051Thr)
c.3055T>A (p.Ser1019Thr)
c.3025T>A (p.Ser1009Thr)
c.2950T>A (p.Ser984Thr)
c.2848T>A (p.Ser950Thr)
c.2479T>A (p.Ser827Thr)
 dbSNP
5g.112838922T>CCA16028630APCc.2993T>C (n.2993T>C)
c.3382T>C (p.Ser1128Pro)
c.*3334T>C (n.*3334T>C)
c.3274T>C (p.Ser1092Pro)
c.3328T>C (p.Ser1110Pro)
c.1681T>C
c.*2650T>C (n.*2650T>C)
c.230+9950T>C
c.3358T>C (p.Ser1120Pro)
c.3253T>C (p.Ser1085Pro)
c.3244T>C (p.Ser1082Pro)
c.3205T>C (p.Ser1069Pro)
c.3151T>C (p.Ser1051Pro)
c.3055T>C (p.Ser1019Pro)
c.3025T>C (p.Ser1009Pro)
c.2950T>C (p.Ser984Pro)
c.2848T>C (p.Ser950Pro)
c.2479T>C (p.Ser827Pro)
 dbSNP
5g.112838922T>GCA16028631APCc.2993T>G (n.2993T>G)
c.3382T>G (p.Ser1128Ala)
c.*3334T>G (n.*3334T>G)
c.3274T>G (p.Ser1092Ala)
c.3328T>G (p.Ser1110Ala)
c.1681T>G
c.*2650T>G (n.*2650T>G)
c.230+9950T>G
c.3358T>G (p.Ser1120Ala)
c.3253T>G (p.Ser1085Ala)
c.3244T>G (p.Ser1082Ala)
c.3205T>G (p.Ser1069Ala)
c.3151T>G (p.Ser1051Ala)
c.3055T>G (p.Ser1019Ala)
c.3025T>G (p.Ser1009Ala)
c.2950T>G (p.Ser984Ala)
c.2848T>G (p.Ser950Ala)
c.2479T>G (p.Ser827Ala)
 dbSNP
5g.112838923C>ACA16028632APCc.2994C>A (n.2994C>A)
c.3383C>A (p.Ser1128Ter)
c.*3335C>A (n.*3335C>A)
c.3275C>A (p.Ser1092Ter)
c.3329C>A (p.Ser1110Ter)
c.1682C>A
c.*2651C>A (n.*2651C>A)
c.230+9951C>A
c.3359C>A (p.Ser1120Ter)
c.3254C>A (p.Ser1085Ter)
c.3245C>A (p.Ser1082Ter)
c.3206C>A (p.Ser1069Ter)
c.3152C>A (p.Ser1051Ter)
c.3056C>A (p.Ser1019Ter)
c.3026C>A (p.Ser1009Ter)
c.2951C>A (p.Ser984Ter)
c.2849C>A (p.Ser950Ter)
c.2480C>A (p.Ser827Ter)
 ClinVar dbSNP COSMIC
5g.112838923C=CA1573487632APCc.2994C= (n.2994C=)
c.3383C= (p.Ser1128=)
c.*3335C= (n.*3335C=)
c.3275C= (p.Ser1092=)
c.3329C= (p.Ser1110=)
c.1682C=
c.*2651C= (n.*2651C=)
c.230+9951C=
c.3359C= (p.Ser1120=)
c.3254C= (p.Ser1085=)
c.3245C= (p.Ser1082=)
c.3206C= (p.Ser1069=)
c.3152C= (p.Ser1051=)
c.3056C= (p.Ser1019=)
c.3026C= (p.Ser1009=)
c.2951C= (p.Ser984=)
c.2849C= (p.Ser950=)
c.2480C= (p.Ser827=)
5g.112838923C>GCA16028633APCc.2994C>G (n.2994C>G)
c.3383C>G (p.Ser1128Ter)
c.*3335C>G (n.*3335C>G)
c.3275C>G (p.Ser1092Ter)
c.3329C>G (p.Ser1110Ter)
c.1682C>G
c.*2651C>G (n.*2651C>G)
c.230+9951C>G
c.3359C>G (p.Ser1120Ter)
c.3254C>G (p.Ser1085Ter)
c.3245C>G (p.Ser1082Ter)
c.3206C>G (p.Ser1069Ter)
c.3152C>G (p.Ser1051Ter)
c.3056C>G (p.Ser1019Ter)
c.3026C>G (p.Ser1009Ter)
c.2951C>G (p.Ser984Ter)
c.2849C>G (p.Ser950Ter)
c.2480C>G (p.Ser827Ter)
 ClinVar dbSNP COSMIC
5g.112838923C>TCA16028634APCc.2994C>T (n.2994C>T)
c.3383C>T (p.Ser1128Leu)
c.*3335C>T (n.*3335C>T)
c.3275C>T (p.Ser1092Leu)
c.3329C>T (p.Ser1110Leu)
c.1682C>T
c.*2651C>T (n.*2651C>T)
c.230+9951C>T
c.3359C>T (p.Ser1120Leu)
c.3254C>T (p.Ser1085Leu)
c.3245C>T (p.Ser1082Leu)
c.3206C>T (p.Ser1069Leu)
c.3152C>T (p.Ser1051Leu)
c.3056C>T (p.Ser1019Leu)
c.3026C>T (p.Ser1009Leu)
c.2951C>T (p.Ser984Leu)
c.2849C>T (p.Ser950Leu)
c.2480C>T (p.Ser827Leu)
 ClinVar dbSNP
5g.112838924A>CCA445963627APCc.2995A>C (n.2995A>C)
c.3384A>C (p.Ser1128=)
c.*3336A>C (n.*3336A>C)
c.3276A>C (p.Ser1092=)
c.3330A>C (p.Ser1110=)
c.1683A>C
c.*2652A>C (n.*2652A>C)
c.230+9952A>C
c.3360A>C (p.Ser1120=)
c.3255A>C (p.Ser1085=)
c.3246A>C (p.Ser1082=)
c.3207A>C (p.Ser1069=)
c.3153A>C (p.Ser1051=)
c.3057A>C (p.Ser1019=)
c.3027A>C (p.Ser1009=)
c.2952A>C (p.Ser984=)
c.2850A>C (p.Ser950=)
c.2481A>C (p.Ser827=)
 ClinVar
5g.112838924A>GCA445963628APCc.2995A>G (n.2995A>G)
c.3384A>G (p.Ser1128=)
c.*3336A>G (n.*3336A>G)
c.3276A>G (p.Ser1092=)
c.3330A>G (p.Ser1110=)
c.1683A>G
c.*2652A>G (n.*2652A>G)
c.230+9952A>G
c.3360A>G (p.Ser1120=)
c.3255A>G (p.Ser1085=)
c.3246A>G (p.Ser1082=)
c.3207A>G (p.Ser1069=)
c.3153A>G (p.Ser1051=)
c.3057A>G (p.Ser1019=)
c.3027A>G (p.Ser1009=)
c.2952A>G (p.Ser984=)
c.2850A>G (p.Ser950=)
c.2481A>G (p.Ser827=)
 dbSNP COSMIC
5g.112838924A>TCA445963626APCc.2995A>T (n.2995A>T)
c.3384A>T (p.Ser1128=)
c.*3336A>T (n.*3336A>T)
c.3276A>T (p.Ser1092=)
c.3330A>T (p.Ser1110=)
c.1683A>T
c.*2652A>T (n.*2652A>T)
c.230+9952A>T
c.3360A>T (p.Ser1120=)
c.3255A>T (p.Ser1085=)
c.3246A>T (p.Ser1082=)
c.3207A>T (p.Ser1069=)
c.3153A>T (p.Ser1051=)
c.3057A>T (p.Ser1019=)
c.3027A>T (p.Ser1009=)
c.2952A>T (p.Ser984=)
c.2850A>T (p.Ser950=)
c.2481A>T (p.Ser827=)
 dbSNP
5g.112838925G>ACA16028635APCc.2996G>A (n.2996G>A)
c.3385G>A (p.Glu1129Lys)
c.*3337G>A (n.*3337G>A)
c.3277G>A (p.Glu1093Lys)
c.3331G>A (p.Glu1111Lys)
c.1684G>A
c.*2653G>A (n.*2653G>A)
c.230+9953G>A
c.3361G>A (p.Glu1121Lys)
c.3256G>A (p.Glu1086Lys)
c.3247G>A (p.Glu1083Lys)
c.3208G>A (p.Glu1070Lys)
c.3154G>A (p.Glu1052Lys)
c.3058G>A (p.Glu1020Lys)
c.3028G>A (p.Glu1010Lys)
c.2953G>A (p.Glu985Lys)
c.2851G>A (p.Glu951Lys)
c.2482G>A (p.Glu828Lys)
 dbSNP
5g.112838925G>CCA16028636APCc.2996G>C (n.2996G>C)
c.3385G>C (p.Glu1129Gln)
c.*3337G>C (n.*3337G>C)
c.3277G>C (p.Glu1093Gln)
c.3331G>C (p.Glu1111Gln)
c.1684G>C
c.*2653G>C (n.*2653G>C)
c.230+9953G>C
c.3361G>C (p.Glu1121Gln)
c.3256G>C (p.Glu1086Gln)
c.3247G>C (p.Glu1083Gln)
c.3208G>C (p.Glu1070Gln)
c.3154G>C (p.Glu1052Gln)
c.3058G>C (p.Glu1020Gln)
c.3028G>C (p.Glu1010Gln)
c.2953G>C (p.Glu985Gln)
c.2851G>C (p.Glu951Gln)
c.2482G>C (p.Glu828Gln)
 ClinVar dbSNP
5g.112838925G>TCA16028637APCc.2996G>T (n.2996G>T)
c.3385G>T (p.Glu1129Ter)
c.*3337G>T (n.*3337G>T)
c.3277G>T (p.Glu1093Ter)
c.3331G>T (p.Glu1111Ter)
c.1684G>T
c.*2653G>T (n.*2653G>T)
c.230+9953G>T
c.3361G>T (p.Glu1121Ter)
c.3256G>T (p.Glu1086Ter)
c.3247G>T (p.Glu1083Ter)
c.3208G>T (p.Glu1070Ter)
c.3154G>T (p.Glu1052Ter)
c.3058G>T (p.Glu1020Ter)
c.3028G>T (p.Glu1010Ter)
c.2953G>T (p.Glu985Ter)
c.2851G>T (p.Glu951Ter)
c.2482G>T (p.Glu828Ter)
 COSMIC
5g.112838926A>CCA16028638APCc.2997A>C (n.2997A>C)
c.3386A>C (p.Glu1129Ala)
c.*3338A>C (n.*3338A>C)
c.3278A>C (p.Glu1093Ala)
c.3332A>C (p.Glu1111Ala)
c.1685A>C
c.*2654A>C (n.*2654A>C)
c.230+9954A>C
c.3362A>C (p.Glu1121Ala)
c.3257A>C (p.Glu1086Ala)
c.3248A>C (p.Glu1083Ala)
c.3209A>C (p.Glu1070Ala)
c.3155A>C (p.Glu1052Ala)
c.3059A>C (p.Glu1020Ala)
c.3029A>C (p.Glu1010Ala)
c.2954A>C (p.Glu985Ala)
c.2852A>C (p.Glu951Ala)
c.2483A>C (p.Glu828Ala)
5g.112838926A>GCA16028639APCc.2997A>G (n.2997A>G)
c.3386A>G (p.Glu1129Gly)
c.*3338A>G (n.*3338A>G)
c.3278A>G (p.Glu1093Gly)
c.3332A>G (p.Glu1111Gly)
c.1685A>G
c.*2654A>G (n.*2654A>G)
c.230+9954A>G
c.3362A>G (p.Glu1121Gly)
c.3257A>G (p.Glu1086Gly)
c.3248A>G (p.Glu1083Gly)
c.3209A>G (p.Glu1070Gly)
c.3155A>G (p.Glu1052Gly)
c.3059A>G (p.Glu1020Gly)
c.3029A>G (p.Glu1010Gly)
c.2954A>G (p.Glu985Gly)
c.2852A>G (p.Glu951Gly)
c.2483A>G (p.Glu828Gly)
5g.112838926A>TCA16028640APCc.2997A>T (n.2997A>T)
c.3386A>T (p.Glu1129Val)
c.*3338A>T (n.*3338A>T)
c.3278A>T (p.Glu1093Val)
c.3332A>T (p.Glu1111Val)
c.1685A>T
c.*2654A>T (n.*2654A>T)
c.230+9954A>T
c.3362A>T (p.Glu1121Val)
c.3257A>T (p.Glu1086Val)
c.3248A>T (p.Glu1083Val)
c.3209A>T (p.Glu1070Val)
c.3155A>T (p.Glu1052Val)
c.3059A>T (p.Glu1020Val)
c.3029A>T (p.Glu1010Val)
c.2954A>T (p.Glu985Val)
c.2852A>T (p.Glu951Val)
c.2483A>T (p.Glu828Val)
 dbSNP
5g.112838928delCA658760906APCc.2999del (n.2999del)
c.3388del (p.Thr1130GlnfsTer14)
c.*3340del (n.*3340del)
c.3280del (p.Thr1094GlnfsTer14)
c.3334del (p.Thr1112GlnfsTer14)
c.1687del
c.*2656del (n.*2656del)
c.230+9956del
c.3364del (p.Thr1122GlnfsTer14)
c.3259del (p.Thr1087GlnfsTer14)
c.3250del (p.Thr1084GlnfsTer14)
c.3211del (p.Thr1071GlnfsTer14)
c.3157del (p.Thr1053GlnfsTer14)
c.3061del (p.Thr1021GlnfsTer14)
c.3031del (p.Thr1011GlnfsTer14)
c.2956del (p.Thr986GlnfsTer14)
c.2854del (p.Thr952GlnfsTer14)
c.2485del (p.Thr829GlnfsTer14)
5g.112838929_112838932delCA658760905APCc.3000_3003del (n.3000_3003del)
c.3389_3392del (p.Thr1130IlefsTer13)
c.*3341_*3344del (n.*3341_*3344del)
c.3281_3284del (p.Thr1094IlefsTer13)
c.3335_3338del (p.Thr1112IlefsTer13)
c.1688_1691del
c.*2657_*2660del (n.*2657_*2660del)
c.230+9957_230+9960del
c.3365_3368del (p.Thr1122IlefsTer13)
c.3260_3263del (p.Thr1087IlefsTer13)
c.3251_3254del (p.Thr1084IlefsTer13)
c.3212_3215del (p.Thr1071IlefsTer13)
c.3158_3161del (p.Thr1053IlefsTer13)
c.3062_3065del (p.Thr1021IlefsTer13)
c.3032_3035del (p.Thr1011IlefsTer13)
c.2957_2960del (p.Thr986IlefsTer13)
c.2855_2858del (p.Thr952IlefsTer13)
c.2486_2489del (p.Thr829IlefsTer13)
5g.112838927A>CCA16028641APCc.2998A>C (n.2998A>C)
c.3387A>C (p.Glu1129Asp)
c.*3339A>C (n.*3339A>C)
c.3279A>C (p.Glu1093Asp)
c.3333A>C (p.Glu1111Asp)
c.1686A>C
c.*2655A>C (n.*2655A>C)
c.230+9955A>C
c.3363A>C (p.Glu1121Asp)
c.3258A>C (p.Glu1086Asp)
c.3249A>C (p.Glu1083Asp)
c.3210A>C (p.Glu1070Asp)
c.3156A>C (p.Glu1052Asp)
c.3060A>C (p.Glu1020Asp)
c.3030A>C (p.Glu1010Asp)
c.2955A>C (p.Glu985Asp)
c.2853A>C (p.Glu951Asp)
c.2484A>C (p.Glu828Asp)
5g.112838927A>GCA445963632APCc.2998A>G (n.2998A>G)
c.3387A>G (p.Glu1129=)
c.*3339A>G (n.*3339A>G)
c.3279A>G (p.Glu1093=)
c.3333A>G (p.Glu1111=)
c.1686A>G
c.*2655A>G (n.*2655A>G)
c.230+9955A>G
c.3363A>G (p.Glu1121=)
c.3258A>G (p.Glu1086=)
c.3249A>G (p.Glu1083=)
c.3210A>G (p.Glu1070=)
c.3156A>G (p.Glu1052=)
c.3060A>G (p.Glu1020=)
c.3030A>G (p.Glu1010=)
c.2955A>G (p.Glu985=)
c.2853A>G (p.Glu951=)
c.2484A>G (p.Glu828=)
5g.112838927A>TCA16028642APCc.2998A>T (n.2998A>T)
c.3387A>T (p.Glu1129Asp)
c.*3339A>T (n.*3339A>T)
c.3279A>T (p.Glu1093Asp)
c.3333A>T (p.Glu1111Asp)
c.1686A>T
c.*2655A>T (n.*2655A>T)
c.230+9955A>T
c.3363A>T (p.Glu1121Asp)
c.3258A>T (p.Glu1086Asp)
c.3249A>T (p.Glu1083Asp)
c.3210A>T (p.Glu1070Asp)
c.3156A>T (p.Glu1052Asp)
c.3060A>T (p.Glu1020Asp)
c.3030A>T (p.Glu1010Asp)
c.2955A>T (p.Glu985Asp)
c.2853A>T (p.Glu951Asp)
c.2484A>T (p.Glu828Asp)
 dbSNP
5g.112838927_112838929delinsAACCA1573487652APCc.2998_3000delinsAAC (n.2998_3000delinsAAC)
c.3387_3389delinsAAC (p.Glu1129=)
c.*3339_*3341delinsAAC (n.*3339_*3341delinsAAC)
c.3279_3281delinsAAC (p.Glu1093=)
c.3333_3335delinsAAC (p.Glu1111=)
c.1686_1688delinsAAC
c.*2655_*2657delinsAAC (n.*2655_*2657delinsAAC)
c.230+9955_230+9957delinsAAC
c.3363_3365delinsAAC (p.Glu1121=)
c.3258_3260delinsAAC (p.Glu1086=)
c.3249_3251delinsAAC (p.Glu1083=)
c.3210_3212delinsAAC (p.Glu1070=)
c.3156_3158delinsAAC (p.Glu1052=)
c.3060_3062delinsAAC (p.Glu1020=)
c.3030_3032delinsAAC (p.Glu1010=)
c.2955_2957delinsAAC (p.Glu985=)
c.2853_2855delinsAAC (p.Glu951=)
c.2484_2486delinsAAC (p.Glu828=)
5g.112838928A=CA1573487661APCc.2999A= (n.2999A=)
c.3388A= (p.Thr1130=)
c.*3340A= (n.*3340A=)
c.3280A= (p.Thr1094=)
c.3334A= (p.Thr1112=)
c.1687A=
c.*2656A= (n.*2656A=)
c.230+9956A=
c.3364A= (p.Thr1122=)
c.3259A= (p.Thr1087=)
c.3250A= (p.Thr1084=)
c.3211A= (p.Thr1071=)
c.3157A= (p.Thr1053=)
c.3061A= (p.Thr1021=)
c.3031A= (p.Thr1011=)
c.2956A= (p.Thr986=)
c.2854A= (p.Thr952=)
c.2485A= (p.Thr829=)
5g.112838928A>CCA16028643APCc.2999A>C (n.2999A>C)
c.3388A>C (p.Thr1130Pro)
c.*3340A>C (n.*3340A>C)
c.3280A>C (p.Thr1094Pro)
c.3334A>C (p.Thr1112Pro)
c.1687A>C
c.*2656A>C (n.*2656A>C)
c.230+9956A>C
c.3364A>C (p.Thr1122Pro)
c.3259A>C (p.Thr1087Pro)
c.3250A>C (p.Thr1084Pro)
c.3211A>C (p.Thr1071Pro)
c.3157A>C (p.Thr1053Pro)
c.3061A>C (p.Thr1021Pro)
c.3031A>C (p.Thr1011Pro)
c.2956A>C (p.Thr986Pro)
c.2854A>C (p.Thr952Pro)
c.2485A>C (p.Thr829Pro)
 dbSNP
5g.112838928A>GCA035066APCc.2999A>G (n.2999A>G)
c.3388A>G (p.Thr1130Ala)
c.*3340A>G (n.*3340A>G)
c.3280A>G (p.Thr1094Ala)
c.3334A>G (p.Thr1112Ala)
c.1687A>G
c.*2656A>G (n.*2656A>G)
c.230+9956A>G
c.3364A>G (p.Thr1122Ala)
c.3259A>G (p.Thr1087Ala)
c.3250A>G (p.Thr1084Ala)
c.3211A>G (p.Thr1071Ala)
c.3157A>G (p.Thr1053Ala)
c.3061A>G (p.Thr1021Ala)
c.3031A>G (p.Thr1011Ala)
c.2956A>G (p.Thr986Ala)
c.2854A>G (p.Thr952Ala)
c.2485A>G (p.Thr829Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838928A>TCA16028644APCc.2999A>T (n.2999A>T)
c.3388A>T (p.Thr1130Ser)
c.*3340A>T (n.*3340A>T)
c.3280A>T (p.Thr1094Ser)
c.3334A>T (p.Thr1112Ser)
c.1687A>T
c.*2656A>T (n.*2656A>T)
c.230+9956A>T
c.3364A>T (p.Thr1122Ser)
c.3259A>T (p.Thr1087Ser)
c.3250A>T (p.Thr1084Ser)
c.3211A>T (p.Thr1071Ser)
c.3157A>T (p.Thr1053Ser)
c.3061A>T (p.Thr1021Ser)
c.3031A>T (p.Thr1011Ser)
c.2956A>T (p.Thr986Ser)
c.2854A>T (p.Thr952Ser)
c.2485A>T (p.Thr829Ser)
 ClinVar dbSNP
5g.112838929_112838930delCA16618081APCc.3000_3001del (n.3000_3001del)
c.3389_3390del (p.Thr1130LysfsTer6)
c.*3341_*3342del (n.*3341_*3342del)
c.3281_3282del (p.Thr1094LysfsTer6)
c.3335_3336del (p.Thr1112LysfsTer6)
c.1688_1689del
c.*2657_*2658del (n.*2657_*2658del)
c.230+9957_230+9958del
c.3365_3366del (p.Thr1122LysfsTer6)
c.3260_3261del (p.Thr1087LysfsTer6)
c.3251_3252del (p.Thr1084LysfsTer6)
c.3212_3213del (p.Thr1071LysfsTer6)
c.3158_3159del (p.Thr1053LysfsTer6)
c.3062_3063del (p.Thr1021LysfsTer6)
c.3032_3033del (p.Thr1011LysfsTer6)
c.2957_2958del (p.Thr986LysfsTer6)
c.2855_2856del (p.Thr952LysfsTer6)
c.2486_2487del (p.Thr829LysfsTer6)
 ClinVar dbSNP
5g.112838928_112838933delinsACAAATCA1573487665APCc.2999_3004delinsACAAAT (n.2999_3004delinsACAAAT)
c.3388_3393delinsACAAAT (p.Thr1130=)
c.*3340_*3345delinsACAAAT (n.*3340_*3345delinsACAAAT)
c.3280_3285delinsACAAAT (p.Thr1094=)
c.3334_3339delinsACAAAT (p.Thr1112=)
c.1687_1692delinsACAAAT
c.*2656_*2661delinsACAAAT (n.*2656_*2661delinsACAAAT)
c.230+9956_230+9961delinsACAAAT
c.3364_3369delinsACAAAT (p.Thr1122=)
c.3259_3264delinsACAAAT (p.Thr1087=)
c.3250_3255delinsACAAAT (p.Thr1084=)
c.3211_3216delinsACAAAT (p.Thr1071=)
c.3157_3162delinsACAAAT (p.Thr1053=)
c.3061_3066delinsACAAAT (p.Thr1021=)
c.3031_3036delinsACAAAT (p.Thr1011=)
c.2956_2961delinsACAAAT (p.Thr986=)
c.2854_2859delinsACAAAT (p.Thr952=)
c.2485_2490delinsACAAAT (p.Thr829=)
5g.112838929C>ACA16028645APCc.3000C>A (n.3000C>A)
c.3389C>A (p.Thr1130Lys)
c.*3341C>A (n.*3341C>A)
c.3281C>A (p.Thr1094Lys)
c.3335C>A (p.Thr1112Lys)
c.1688C>A
c.*2657C>A (n.*2657C>A)
c.230+9957C>A
c.3365C>A (p.Thr1122Lys)
c.3260C>A (p.Thr1087Lys)
c.3251C>A (p.Thr1084Lys)
c.3212C>A (p.Thr1071Lys)
c.3158C>A (p.Thr1053Lys)
c.3062C>A (p.Thr1021Lys)
c.3032C>A (p.Thr1011Lys)
c.2957C>A (p.Thr986Lys)
c.2855C>A (p.Thr952Lys)
c.2486C>A (p.Thr829Lys)
 ClinVar dbSNP COSMIC
5g.112838929C=CA1573487674APCc.3000C= (n.3000C=)
c.3389C= (p.Thr1130=)
c.*3341C= (n.*3341C=)
c.3281C= (p.Thr1094=)
c.3335C= (p.Thr1112=)
c.1688C=
c.*2657C= (n.*2657C=)
c.230+9957C=
c.3365C= (p.Thr1122=)
c.3260C= (p.Thr1087=)
c.3251C= (p.Thr1084=)
c.3212C= (p.Thr1071=)
c.3158C= (p.Thr1053=)
c.3062C= (p.Thr1021=)
c.3032C= (p.Thr1011=)
c.2957C= (p.Thr986=)
c.2855C= (p.Thr952=)
c.2486C= (p.Thr829=)
5g.112838929C>GCA16028646APCc.3000C>G (n.3000C>G)
c.3389C>G (p.Thr1130Arg)
c.*3341C>G (n.*3341C>G)
c.3281C>G (p.Thr1094Arg)
c.3335C>G (p.Thr1112Arg)
c.1688C>G
c.*2657C>G (n.*2657C>G)
c.230+9957C>G
c.3365C>G (p.Thr1122Arg)
c.3260C>G (p.Thr1087Arg)
c.3251C>G (p.Thr1084Arg)
c.3212C>G (p.Thr1071Arg)
c.3158C>G (p.Thr1053Arg)
c.3062C>G (p.Thr1021Arg)
c.3032C>G (p.Thr1011Arg)
c.2957C>G (p.Thr986Arg)
c.2855C>G (p.Thr952Arg)
c.2486C>G (p.Thr829Arg)
 ClinVar dbSNP
5g.112838929C>TCA16028647APCc.3000C>T (n.3000C>T)
c.3389C>T (p.Thr1130Ile)
c.*3341C>T (n.*3341C>T)
c.3281C>T (p.Thr1094Ile)
c.3335C>T (p.Thr1112Ile)
c.1688C>T
c.*2657C>T (n.*2657C>T)
c.230+9957C>T
c.3365C>T (p.Thr1122Ile)
c.3260C>T (p.Thr1087Ile)
c.3251C>T (p.Thr1084Ile)
c.3212C>T (p.Thr1071Ile)
c.3158C>T (p.Thr1053Ile)
c.3062C>T (p.Thr1021Ile)
c.3032C>T (p.Thr1011Ile)
c.2957C>T (p.Thr986Ile)
c.2855C>T (p.Thr952Ile)
c.2486C>T (p.Thr829Ile)
 ClinVar COSMIC
5g.112838930_112838934delCA658760907APCc.3001_3005del (n.3001_3005del)
c.3390_3394del (p.Asn1131SerfsTer4)
c.*3342_*3346del (n.*3342_*3346del)
c.3282_3286del (p.Asn1095SerfsTer4)
c.3336_3340del (p.Asn1113SerfsTer4)
c.1689_1693del
c.*2658_*2662del (n.*2658_*2662del)
c.230+9958_230+9962del
c.3366_3370del (p.Asn1123SerfsTer4)
c.3261_3265del (p.Asn1088SerfsTer4)
c.3252_3256del (p.Asn1085SerfsTer4)
c.3213_3217del (p.Asn1072SerfsTer4)
c.3159_3163del (p.Asn1054SerfsTer4)
c.3063_3067del (p.Asn1022SerfsTer4)
c.3033_3037del (p.Asn1012SerfsTer4)
c.2958_2962del (p.Asn987SerfsTer4)
c.2856_2860del (p.Asn953SerfsTer4)
c.2487_2491del (p.Asn830SerfsTer4)
 ClinVar dbSNP
5g.112838930A=CA1573487681APCc.3001A= (n.3001A=)
c.3390A= (p.Thr1130=)
c.*3342A= (n.*3342A=)
c.3282A= (p.Thr1094=)
c.3336A= (p.Thr1112=)
c.1689A=
c.*2658A= (n.*2658A=)
c.230+9958A=
c.3366A= (p.Thr1122=)
c.3261A= (p.Thr1087=)
c.3252A= (p.Thr1084=)
c.3213A= (p.Thr1071=)
c.3159A= (p.Thr1053=)
c.3063A= (p.Thr1021=)
c.3033A= (p.Thr1011=)
c.2958A= (p.Thr986=)
c.2856A= (p.Thr952=)
c.2487A= (p.Thr829=)
5g.112838930A>CCA445963635APCc.3001A>C (n.3001A>C)
c.3390A>C (p.Thr1130=)
c.*3342A>C (n.*3342A>C)
c.3282A>C (p.Thr1094=)
c.3336A>C (p.Thr1112=)
c.1689A>C
c.*2658A>C (n.*2658A>C)
c.230+9958A>C
c.3366A>C (p.Thr1122=)
c.3261A>C (p.Thr1087=)
c.3252A>C (p.Thr1084=)
c.3213A>C (p.Thr1071=)
c.3159A>C (p.Thr1053=)
c.3063A>C (p.Thr1021=)
c.3033A>C (p.Thr1011=)
c.2958A>C (p.Thr986=)
c.2856A>C (p.Thr952=)
c.2487A>C (p.Thr829=)
5g.112838930A>GCA445963637APCc.3001A>G (n.3001A>G)
c.3390A>G (p.Thr1130=)
c.*3342A>G (n.*3342A>G)
c.3282A>G (p.Thr1094=)
c.3336A>G (p.Thr1112=)
c.1689A>G
c.*2658A>G (n.*2658A>G)
c.230+9958A>G
c.3366A>G (p.Thr1122=)
c.3261A>G (p.Thr1087=)
c.3252A>G (p.Thr1084=)
c.3213A>G (p.Thr1071=)
c.3159A>G (p.Thr1053=)
c.3063A>G (p.Thr1021=)
c.3033A>G (p.Thr1011=)
c.2958A>G (p.Thr986=)
c.2856A>G (p.Thr952=)
c.2487A>G (p.Thr829=)
 ClinVar
5g.112838930A>TCA445963636APCc.3001A>T (n.3001A>T)
c.3390A>T (p.Thr1130=)
c.*3342A>T (n.*3342A>T)
c.3282A>T (p.Thr1094=)
c.3336A>T (p.Thr1112=)
c.1689A>T
c.*2658A>T (n.*2658A>T)
c.230+9958A>T
c.3366A>T (p.Thr1122=)
c.3261A>T (p.Thr1087=)
c.3252A>T (p.Thr1084=)
c.3213A>T (p.Thr1071=)
c.3159A>T (p.Thr1053=)
c.3063A>T (p.Thr1021=)
c.3033A>T (p.Thr1011=)
c.2958A>T (p.Thr986=)
c.2856A>T (p.Thr952=)
c.2487A>T (p.Thr829=)
 ClinVar dbSNP
5g.112838932dupCA2573138678APCc.3003dup (n.3003dup)
c.3392dup (p.Asn1131LysfsTer6)
c.*3344dup (n.*3344dup)
c.3284dup (p.Asn1095LysfsTer6)
c.3338dup (p.Asn1113LysfsTer6)
c.1691dup
c.*2660dup (n.*2660dup)
c.230+9960dup
c.3368dup (p.Asn1123LysfsTer6)
c.3263dup (p.Asn1088LysfsTer6)
c.3254dup (p.Asn1085LysfsTer6)
c.3215dup (p.Asn1072LysfsTer6)
c.3161dup (p.Asn1054LysfsTer6)
c.3065dup (p.Asn1022LysfsTer6)
c.3035dup (p.Asn1012LysfsTer6)
c.2960dup (p.Asn987LysfsTer6)
c.2858dup (p.Asn953LysfsTer6)
c.2489dup (p.Asn830LysfsTer6)
 ClinVar dbSNP
5g.112838932delCA2710001226APCc.3003del (n.3003del)
c.3392del (p.Asn1131IlefsTer13)
c.*3344del (n.*3344del)
c.3284del (p.Asn1095IlefsTer13)
c.3338del (p.Asn1113IlefsTer13)
c.1691del
c.*2660del (n.*2660del)
c.230+9960del
c.3368del (p.Asn1123IlefsTer13)
c.3263del (p.Asn1088IlefsTer13)
c.3254del (p.Asn1085IlefsTer13)
c.3215del (p.Asn1072IlefsTer13)
c.3161del (p.Asn1054IlefsTer13)
c.3065del (p.Asn1022IlefsTer13)
c.3035del (p.Asn1012IlefsTer13)
c.2960del (p.Asn987IlefsTer13)
c.2858del (p.Asn953IlefsTer13)
c.2489del (p.Asn830IlefsTer13)
 dbSNP
5g.112838931_112838932delCA658760908APCc.3002_3003del (n.3002_3003del)
c.3391_3392del (p.Asn1131SerfsTer5)
c.*3343_*3344del (n.*3343_*3344del)
c.3283_3284del (p.Asn1095SerfsTer5)
c.3337_3338del (p.Asn1113SerfsTer5)
c.1690_1691del
c.*2659_*2660del (n.*2659_*2660del)
c.230+9959_230+9960del
c.3367_3368del (p.Asn1123SerfsTer5)
c.3262_3263del (p.Asn1088SerfsTer5)
c.3253_3254del (p.Asn1085SerfsTer5)
c.3214_3215del (p.Asn1072SerfsTer5)
c.3160_3161del (p.Asn1054SerfsTer5)
c.3064_3065del (p.Asn1022SerfsTer5)
c.3034_3035del (p.Asn1012SerfsTer5)
c.2959_2960del (p.Asn987SerfsTer5)
c.2857_2858del (p.Asn953SerfsTer5)
c.2488_2489del (p.Asn830SerfsTer5)
5g.112838931A>CCA16028648APCc.3002A>C (n.3002A>C)
c.3391A>C (p.Asn1131His)
c.*3343A>C (n.*3343A>C)
c.3283A>C (p.Asn1095His)
c.3337A>C (p.Asn1113His)
c.1690A>C
c.*2659A>C (n.*2659A>C)
c.230+9959A>C
c.3367A>C (p.Asn1123His)
c.3262A>C (p.Asn1088His)
c.3253A>C (p.Asn1085His)
c.3214A>C (p.Asn1072His)
c.3160A>C (p.Asn1054His)
c.3064A>C (p.Asn1022His)
c.3034A>C (p.Asn1012His)
c.2959A>C (p.Asn987His)
c.2857A>C (p.Asn953His)
c.2488A>C (p.Asn830His)
5g.112838931A>GCA16028649APCc.3002A>G (n.3002A>G)
c.3391A>G (p.Asn1131Asp)
c.*3343A>G (n.*3343A>G)
c.3283A>G (p.Asn1095Asp)
c.3337A>G (p.Asn1113Asp)
c.1690A>G
c.*2659A>G (n.*2659A>G)
c.230+9959A>G
c.3367A>G (p.Asn1123Asp)
c.3262A>G (p.Asn1088Asp)
c.3253A>G (p.Asn1085Asp)
c.3214A>G (p.Asn1072Asp)
c.3160A>G (p.Asn1054Asp)
c.3064A>G (p.Asn1022Asp)
c.3034A>G (p.Asn1012Asp)
c.2959A>G (p.Asn987Asp)
c.2857A>G (p.Asn953Asp)
c.2488A>G (p.Asn830Asp)
 ClinVar dbSNP
5g.112838931A>TCA16028650APCc.3002A>T (n.3002A>T)
c.3391A>T (p.Asn1131Tyr)
c.*3343A>T (n.*3343A>T)
c.3283A>T (p.Asn1095Tyr)
c.3337A>T (p.Asn1113Tyr)
c.1690A>T
c.*2659A>T (n.*2659A>T)
c.230+9959A>T
c.3367A>T (p.Asn1123Tyr)
c.3262A>T (p.Asn1088Tyr)
c.3253A>T (p.Asn1085Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3160A>T (p.Asn1054Tyr)
c.3064A>T (p.Asn1022Tyr)
c.3034A>T (p.Asn1012Tyr)
c.2959A>T (p.Asn987Tyr)
c.2857A>T (p.Asn953Tyr)
c.2488A>T (p.Asn830Tyr)
 dbSNP
5g.112838932A>CCA16028651APCc.3003A>C (n.3003A>C)
c.3392A>C (p.Asn1131Thr)
c.*3344A>C (n.*3344A>C)
c.3284A>C (p.Asn1095Thr)
c.3338A>C (p.Asn1113Thr)
c.1691A>C
c.*2660A>C (n.*2660A>C)
c.230+9960A>C
c.3368A>C (p.Asn1123Thr)
c.3263A>C (p.Asn1088Thr)
c.3254A>C (p.Asn1085Thr)
c.3215A>C (p.Asn1072Thr)
c.3161A>C (p.Asn1054Thr)
c.3065A>C (p.Asn1022Thr)
c.3035A>C (p.Asn1012Thr)
c.2960A>C (p.Asn987Thr)
c.2858A>C (p.Asn953Thr)
c.2489A>C (p.Asn830Thr)
 dbSNP
5g.112838932A>GCA16028652APCc.3003A>G (n.3003A>G)
c.3392A>G (p.Asn1131Ser)
c.*3344A>G (n.*3344A>G)
c.3284A>G (p.Asn1095Ser)
c.3338A>G (p.Asn1113Ser)
c.1691A>G
c.*2660A>G (n.*2660A>G)
c.230+9960A>G
c.3368A>G (p.Asn1123Ser)
c.3263A>G (p.Asn1088Ser)
c.3254A>G (p.Asn1085Ser)
c.3215A>G (p.Asn1072Ser)
c.3161A>G (p.Asn1054Ser)
c.3065A>G (p.Asn1022Ser)
c.3035A>G (p.Asn1012Ser)
c.2960A>G (p.Asn987Ser)
c.2858A>G (p.Asn953Ser)
c.2489A>G (p.Asn830Ser)
 ClinVar dbSNP
5g.112838932A>TCA16028653APCc.3003A>T (n.3003A>T)
c.3392A>T (p.Asn1131Ile)
c.*3344A>T (n.*3344A>T)
c.3284A>T (p.Asn1095Ile)
c.3338A>T (p.Asn1113Ile)
c.1691A>T
c.*2660A>T (n.*2660A>T)
c.230+9960A>T
c.3368A>T (p.Asn1123Ile)
c.3263A>T (p.Asn1088Ile)
c.3254A>T (p.Asn1085Ile)
c.3215A>T (p.Asn1072Ile)
c.3161A>T (p.Asn1054Ile)
c.3065A>T (p.Asn1022Ile)
c.3035A>T (p.Asn1012Ile)
c.2960A>T (p.Asn987Ile)
c.2858A>T (p.Asn953Ile)
c.2489A>T (p.Asn830Ile)
 ClinVar dbSNP gnomAD v4
5g.112838933T>ACA16028654APCc.3004T>A (n.3004T>A)
c.3393T>A (p.Asn1131Lys)
c.*3345T>A (n.*3345T>A)
c.3285T>A (p.Asn1095Lys)
c.3339T>A (p.Asn1113Lys)
c.1692T>A
c.*2661T>A (n.*2661T>A)
c.230+9961T>A
c.3369T>A (p.Asn1123Lys)
c.3264T>A (p.Asn1088Lys)
c.3255T>A (p.Asn1085Lys)
c.3216T>A (p.Asn1072Lys)
c.3162T>A (p.Asn1054Lys)
c.3066T>A (p.Asn1022Lys)
c.3036T>A (p.Asn1012Lys)
c.2961T>A (p.Asn987Lys)
c.2859T>A (p.Asn953Lys)
c.2490T>A (p.Asn830Lys)
 dbSNP
5g.112838933T>CCA445963640APCc.3004T>C (n.3004T>C)
c.3393T>C (p.Asn1131=)
c.*3345T>C (n.*3345T>C)
c.3285T>C (p.Asn1095=)
c.3339T>C (p.Asn1113=)
c.1692T>C
c.*2661T>C (n.*2661T>C)
c.230+9961T>C
c.3369T>C (p.Asn1123=)
c.3264T>C (p.Asn1088=)
c.3255T>C (p.Asn1085=)
c.3216T>C (p.Asn1072=)
c.3162T>C (p.Asn1054=)
c.3066T>C (p.Asn1022=)
c.3036T>C (p.Asn1012=)
c.2961T>C (p.Asn987=)
c.2859T>C (p.Asn953=)
c.2490T>C (p.Asn830=)
 dbSNP
5g.112838933T>GCA16028655APCc.3004T>G (n.3004T>G)
c.3393T>G (p.Asn1131Lys)
c.*3345T>G (n.*3345T>G)
c.3285T>G (p.Asn1095Lys)
c.3339T>G (p.Asn1113Lys)
c.1692T>G
c.*2661T>G (n.*2661T>G)
c.230+9961T>G
c.3369T>G (p.Asn1123Lys)
c.3264T>G (p.Asn1088Lys)
c.3255T>G (p.Asn1085Lys)
c.3216T>G (p.Asn1072Lys)
c.3162T>G (p.Asn1054Lys)
c.3066T>G (p.Asn1022Lys)
c.3036T>G (p.Asn1012Lys)
c.2961T>G (p.Asn987Lys)
c.2859T>G (p.Asn953Lys)
c.2490T>G (p.Asn830Lys)
 dbSNP
5g.112838934delCA2695204926APCc.3005del (n.3005del)
c.3394del (p.Arg1132GlufsTer12)
c.*3346del (n.*3346del)
c.3286del (p.Arg1096GlufsTer12)
c.3340del (p.Arg1114GlufsTer12)
c.1693del
c.*2662del (n.*2662del)
c.230+9962del
c.3370del (p.Arg1124GlufsTer12)
c.3265del (p.Arg1089GlufsTer12)
c.3256del (p.Arg1086GlufsTer12)
c.3217del (p.Arg1073GlufsTer12)
c.3163del (p.Arg1055GlufsTer12)
c.3067del (p.Arg1023GlufsTer12)
c.3037del (p.Arg1013GlufsTer12)
c.2962del (p.Arg988GlufsTer12)
c.2860del (p.Arg954GlufsTer12)
c.2491del (p.Arg831GlufsTer12)
5g.112838934C>ACA035080APCc.3005C>A (n.3005C>A)
c.3394C>A (p.Arg1132=)
c.*3346C>A (n.*3346C>A)
c.3286C>A (p.Arg1096=)
c.3340C>A (p.Arg1114=)
c.1693C>A
c.*2662C>A (n.*2662C>A)
c.230+9962C>A
c.3370C>A (p.Arg1124=)
c.3265C>A (p.Arg1089=)
c.3256C>A (p.Arg1086=)
c.3217C>A (p.Arg1073=)
c.3163C>A (p.Arg1055=)
c.3067C>A (p.Arg1023=)
c.3037C>A (p.Arg1013=)
c.2962C>A (p.Arg988=)
c.2860C>A (p.Arg954=)
c.2491C>A (p.Arg831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838934C=CA1573487690APCc.3005C= (n.3005C=)
c.3394C= (p.Arg1132=)
c.*3346C= (n.*3346C=)
c.3286C= (p.Arg1096=)
c.3340C= (p.Arg1114=)
c.1693C=
c.*2662C= (n.*2662C=)
c.230+9962C=
c.3370C= (p.Arg1124=)
c.3265C= (p.Arg1089=)
c.3256C= (p.Arg1086=)
c.3217C= (p.Arg1073=)
c.3163C= (p.Arg1055=)
c.3067C= (p.Arg1023=)
c.3037C= (p.Arg1013=)
c.2962C= (p.Arg988=)
c.2860C= (p.Arg954=)
c.2491C= (p.Arg831=)
5g.112838934C>GCA16028656APCc.3005C>G (n.3005C>G)
c.3394C>G (p.Arg1132Gly)
c.*3346C>G (n.*3346C>G)
c.3286C>G (p.Arg1096Gly)
c.3340C>G (p.Arg1114Gly)
c.1693C>G
c.*2662C>G (n.*2662C>G)
c.230+9962C>G
c.3370C>G (p.Arg1124Gly)
c.3265C>G (p.Arg1089Gly)
c.3256C>G (p.Arg1086Gly)
c.3217C>G (p.Arg1073Gly)
c.3163C>G (p.Arg1055Gly)
c.3067C>G (p.Arg1023Gly)
c.3037C>G (p.Arg1013Gly)
c.2962C>G (p.Arg988Gly)
c.2860C>G (p.Arg954Gly)
c.2491C>G (p.Arg831Gly)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112838934C>TCA10582306APCc.3005C>T (n.3005C>T)
c.3394C>T (p.Arg1132Ter)
c.*3346C>T (n.*3346C>T)
c.3286C>T (p.Arg1096Ter)
c.3340C>T (p.Arg1114Ter)
c.1693C>T
c.*2662C>T (n.*2662C>T)
c.230+9962C>T
c.3370C>T (p.Arg1124Ter)
c.3265C>T (p.Arg1089Ter)
c.3256C>T (p.Arg1086Ter)
c.3217C>T (p.Arg1073Ter)
c.3163C>T (p.Arg1055Ter)
c.3067C>T (p.Arg1023Ter)
c.3037C>T (p.Arg1013Ter)
c.2962C>T (p.Arg988Ter)
c.2860C>T (p.Arg954Ter)
c.2491C>T (p.Arg831Ter)
 ClinVar dbSNP COSMIC
5g.112838935G>ACA035094APCc.3006G>A (n.3006G>A)
c.3395G>A (p.Arg1132Gln)
c.*3347G>A (n.*3347G>A)
c.3287G>A (p.Arg1096Gln)
c.3341G>A (p.Arg1114Gln)
c.1694G>A
c.*2663G>A (n.*2663G>A)
c.230+9963G>A
c.3371G>A (p.Arg1124Gln)
c.3266G>A (p.Arg1089Gln)
c.3257G>A (p.Arg1086Gln)
c.3218G>A (p.Arg1073Gln)
c.3164G>A (p.Arg1055Gln)
c.3068G>A (p.Arg1023Gln)
c.3038G>A (p.Arg1013Gln)
c.2963G>A (p.Arg988Gln)
c.2861G>A (p.Arg954Gln)
c.2492G>A (p.Arg831Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838935G>CCA16028657APCc.3006G>C (n.3006G>C)
c.3395G>C (p.Arg1132Pro)
c.*3347G>C (n.*3347G>C)
c.3287G>C (p.Arg1096Pro)
c.3341G>C (p.Arg1114Pro)
c.1694G>C
c.*2663G>C (n.*2663G>C)
c.230+9963G>C
c.3371G>C (p.Arg1124Pro)
c.3266G>C (p.Arg1089Pro)
c.3257G>C (p.Arg1086Pro)
c.3218G>C (p.Arg1073Pro)
c.3164G>C (p.Arg1055Pro)
c.3068G>C (p.Arg1023Pro)
c.3038G>C (p.Arg1013Pro)
c.2963G>C (p.Arg988Pro)
c.2861G>C (p.Arg954Pro)
c.2492G>C (p.Arg831Pro)
 dbSNP
5g.112838935G=CA1573487699APCc.3006G= (n.3006G=)
c.3395G= (p.Arg1132=)
c.*3347G= (n.*3347G=)
c.3287G= (p.Arg1096=)
c.3341G= (p.Arg1114=)
c.1694G=
c.*2663G= (n.*2663G=)
c.230+9963G=
c.3371G= (p.Arg1124=)
c.3266G= (p.Arg1089=)
c.3257G= (p.Arg1086=)
c.3218G= (p.Arg1073=)
c.3164G= (p.Arg1055=)
c.3068G= (p.Arg1023=)
c.3038G= (p.Arg1013=)
c.2963G= (p.Arg988=)
c.2861G= (p.Arg954=)
c.2492G= (p.Arg831=)
5g.112838935G>TCA16028658APCc.3006G>T (n.3006G>T)
c.3395G>T (p.Arg1132Leu)
c.*3347G>T (n.*3347G>T)
c.3287G>T (p.Arg1096Leu)
c.3341G>T (p.Arg1114Leu)
c.1694G>T
c.*2663G>T (n.*2663G>T)
c.230+9963G>T
c.3371G>T (p.Arg1124Leu)
c.3266G>T (p.Arg1089Leu)
c.3257G>T (p.Arg1086Leu)
c.3218G>T (p.Arg1073Leu)
c.3164G>T (p.Arg1055Leu)
c.3068G>T (p.Arg1023Leu)
c.3038G>T (p.Arg1013Leu)
c.2963G>T (p.Arg988Leu)
c.2861G>T (p.Arg954Leu)
c.2492G>T (p.Arg831Leu)
 ClinVar dbSNP
5g.112838936A=CA1573487706APCc.3007A= (n.3007A=)
c.3396A= (p.Arg1132=)
c.*3348A= (n.*3348A=)
c.3288A= (p.Arg1096=)
c.3342A= (p.Arg1114=)
c.1695A=
c.*2664A= (n.*2664A=)
c.230+9964A=
c.3372A= (p.Arg1124=)
c.3267A= (p.Arg1089=)
c.3258A= (p.Arg1086=)
c.3219A= (p.Arg1073=)
c.3165A= (p.Arg1055=)
c.3069A= (p.Arg1023=)
c.3039A= (p.Arg1013=)
c.2964A= (p.Arg988=)
c.2862A= (p.Arg954=)
c.2493A= (p.Arg831=)
5g.112838936A>CCA445963642APCc.3007A>C (n.3007A>C)
c.3396A>C (p.Arg1132=)
c.*3348A>C (n.*3348A>C)
c.3288A>C (p.Arg1096=)
c.3342A>C (p.Arg1114=)
c.1695A>C
c.*2664A>C (n.*2664A>C)
c.230+9964A>C
c.3372A>C (p.Arg1124=)
c.3267A>C (p.Arg1089=)
c.3258A>C (p.Arg1086=)
c.3219A>C (p.Arg1073=)
c.3165A>C (p.Arg1055=)
c.3069A>C (p.Arg1023=)
c.3039A>C (p.Arg1013=)
c.2964A>C (p.Arg988=)
c.2862A>C (p.Arg954=)
c.2493A>C (p.Arg831=)
5g.112838936A>GCA008290APCc.3007A>G (n.3007A>G)
c.3396A>G (p.Arg1132=)
c.*3348A>G (n.*3348A>G)
c.3288A>G (p.Arg1096=)
c.3342A>G (p.Arg1114=)
c.1695A>G
c.*2664A>G (n.*2664A>G)
c.230+9964A>G
c.3372A>G (p.Arg1124=)
c.3267A>G (p.Arg1089=)
c.3258A>G (p.Arg1086=)
c.3219A>G (p.Arg1073=)
c.3165A>G (p.Arg1055=)
c.3069A>G (p.Arg1023=)
c.3039A>G (p.Arg1013=)
c.2964A>G (p.Arg988=)
c.2862A>G (p.Arg954=)
c.2493A>G (p.Arg831=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838936A>TCA445963643APCc.3007A>T (n.3007A>T)
c.3396A>T (p.Arg1132=)
c.*3348A>T (n.*3348A>T)
c.3288A>T (p.Arg1096=)
c.3342A>T (p.Arg1114=)
c.1695A>T
c.*2664A>T (n.*2664A>T)
c.230+9964A>T
c.3372A>T (p.Arg1124=)
c.3267A>T (p.Arg1089=)
c.3258A>T (p.Arg1086=)
c.3219A>T (p.Arg1073=)
c.3165A>T (p.Arg1055=)
c.3069A>T (p.Arg1023=)
c.3039A>T (p.Arg1013=)
c.2964A>T (p.Arg988=)
c.2862A>T (p.Arg954=)
c.2493A>T (p.Arg831=)
 ClinVar dbSNP
5g.112838936_112838937delinsAGCA1573487723APCc.3007_3008delinsAG (n.3007_3008delinsAG)
c.3396_3397delinsAG (p.Arg1132=)
c.*3348_*3349delinsAG (n.*3348_*3349delinsAG)
c.3288_3289delinsAG (p.Arg1096=)
c.3342_3343delinsAG (p.Arg1114=)
c.1695_1696delinsAG
c.*2664_*2665delinsAG (n.*2664_*2665delinsAG)
c.230+9964_230+9965delinsAG
c.3372_3373delinsAG (p.Arg1124=)
c.3267_3268delinsAG (p.Arg1089=)
c.3258_3259delinsAG (p.Arg1086=)
c.3219_3220delinsAG (p.Arg1073=)
c.3165_3166delinsAG (p.Arg1055=)
c.3069_3070delinsAG (p.Arg1023=)
c.3039_3040delinsAG (p.Arg1013=)
c.2964_2965delinsAG (p.Arg988=)
c.2862_2863delinsAG (p.Arg954=)
c.2493_2494delinsAG (p.Arg831=)
5g.112838937delCA658655910APCc.3008del (n.3008del)
c.3397del (p.Val1133TrpfsTer11)
c.*3349del (n.*3349del)
c.3289del (p.Val1097TrpfsTer11)
c.3343del (p.Val1115TrpfsTer11)
c.1696del
c.*2665del (n.*2665del)
c.230+9965del
c.3373del (p.Val1125TrpfsTer11)
c.3268del (p.Val1090TrpfsTer11)
c.3259del (p.Val1087TrpfsTer11)
c.3220del (p.Val1074TrpfsTer11)
c.3166del (p.Val1056TrpfsTer11)
c.3070del (p.Val1024TrpfsTer11)
c.3040del (p.Val1014TrpfsTer11)
c.2965del (p.Val989TrpfsTer11)
c.2863del (p.Val955TrpfsTer11)
c.2494del (p.Val832TrpfsTer11)
 ClinVar dbSNP
5g.112838937G>ACA035105APCc.3008G>A (n.3008G>A)
c.3397G>A (p.Val1133Met)
c.*3349G>A (n.*3349G>A)
c.3289G>A (p.Val1097Met)
c.3343G>A (p.Val1115Met)
c.1696G>A
c.*2665G>A (n.*2665G>A)
c.230+9965G>A
c.3373G>A (p.Val1125Met)
c.3268G>A (p.Val1090Met)
c.3259G>A (p.Val1087Met)
c.3220G>A (p.Val1074Met)
c.3166G>A (p.Val1056Met)
c.3070G>A (p.Val1024Met)
c.3040G>A (p.Val1014Met)
c.2965G>A (p.Val989Met)
c.2863G>A (p.Val955Met)
c.2494G>A (p.Val832Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838937G>CCA16028659APCc.3008G>C (n.3008G>C)
c.3397G>C (p.Val1133Leu)
c.*3349G>C (n.*3349G>C)
c.3289G>C (p.Val1097Leu)
c.3343G>C (p.Val1115Leu)
c.1696G>C
c.*2665G>C (n.*2665G>C)
c.230+9965G>C
c.3373G>C (p.Val1125Leu)
c.3268G>C (p.Val1090Leu)
c.3259G>C (p.Val1087Leu)
c.3220G>C (p.Val1074Leu)
c.3166G>C (p.Val1056Leu)
c.3070G>C (p.Val1024Leu)
c.3040G>C (p.Val1014Leu)
c.2965G>C (p.Val989Leu)
c.2863G>C (p.Val955Leu)
c.2494G>C (p.Val832Leu)
 ClinVar dbSNP gnomAD v4
5g.112838937G=CA1573487738APCc.3008G= (n.3008G=)
c.3397G= (p.Val1133=)
c.*3349G= (n.*3349G=)
c.3289G= (p.Val1097=)
c.3343G= (p.Val1115=)
c.1696G=
c.*2665G= (n.*2665G=)
c.230+9965G=
c.3373G= (p.Val1125=)
c.3268G= (p.Val1090=)
c.3259G= (p.Val1087=)
c.3220G= (p.Val1074=)
c.3166G= (p.Val1056=)
c.3070G= (p.Val1024=)
c.3040G= (p.Val1014=)
c.2965G= (p.Val989=)
c.2863G= (p.Val955=)
c.2494G= (p.Val832=)
5g.112838937G>TCA16028660APCc.3008G>T (n.3008G>T)
c.3397G>T (p.Val1133Leu)
c.*3349G>T (n.*3349G>T)
c.3289G>T (p.Val1097Leu)
c.3343G>T (p.Val1115Leu)
c.1696G>T
c.*2665G>T (n.*2665G>T)
c.230+9965G>T
c.3373G>T (p.Val1125Leu)
c.3268G>T (p.Val1090Leu)
c.3259G>T (p.Val1087Leu)
c.3220G>T (p.Val1074Leu)
c.3166G>T (p.Val1056Leu)
c.3070G>T (p.Val1024Leu)
c.3040G>T (p.Val1014Leu)
c.2965G>T (p.Val989Leu)
c.2863G>T (p.Val955Leu)
c.2494G>T (p.Val832Leu)
 ClinVar dbSNP
5g.112838938T>ACA16028661APCc.3009T>A (n.3009T>A)
c.3398T>A (p.Val1133Glu)
c.*3350T>A (n.*3350T>A)
c.3290T>A (p.Val1097Glu)
c.3344T>A (p.Val1115Glu)
c.1697T>A
c.*2666T>A (n.*2666T>A)
c.230+9966T>A
c.3374T>A (p.Val1125Glu)
c.3269T>A (p.Val1090Glu)
c.3260T>A (p.Val1087Glu)
c.3221T>A (p.Val1074Glu)
c.3167T>A (p.Val1056Glu)
c.3071T>A (p.Val1024Glu)
c.3041T>A (p.Val1014Glu)
c.2966T>A (p.Val989Glu)
c.2864T>A (p.Val955Glu)
c.2495T>A (p.Val832Glu)
5g.112838938T>CCA16028662APCc.3009T>C (n.3009T>C)
c.3398T>C (p.Val1133Ala)
c.*3350T>C (n.*3350T>C)
c.3290T>C (p.Val1097Ala)
c.3344T>C (p.Val1115Ala)
c.1697T>C
c.*2666T>C (n.*2666T>C)
c.230+9966T>C
c.3374T>C (p.Val1125Ala)
c.3269T>C (p.Val1090Ala)
c.3260T>C (p.Val1087Ala)
c.3221T>C (p.Val1074Ala)
c.3167T>C (p.Val1056Ala)
c.3071T>C (p.Val1024Ala)
c.3041T>C (p.Val1014Ala)
c.2966T>C (p.Val989Ala)
c.2864T>C (p.Val955Ala)
c.2495T>C (p.Val832Ala)
5g.112838938T>GCA16028663APCc.3009T>G (n.3009T>G)
c.3398T>G (p.Val1133Gly)
c.*3350T>G (n.*3350T>G)
c.3290T>G (p.Val1097Gly)
c.3344T>G (p.Val1115Gly)
c.1697T>G
c.*2666T>G (n.*2666T>G)
c.230+9966T>G
c.3374T>G (p.Val1125Gly)
c.3269T>G (p.Val1090Gly)
c.3260T>G (p.Val1087Gly)
c.3221T>G (p.Val1074Gly)
c.3167T>G (p.Val1056Gly)
c.3071T>G (p.Val1024Gly)
c.3041T>G (p.Val1014Gly)
c.2966T>G (p.Val989Gly)
c.2864T>G (p.Val955Gly)
c.2495T>G (p.Val832Gly)
5g.112838938_112838939delinsTGCA1573487751APCc.3009_3010delinsTG (n.3009_3010delinsTG)
c.3398_3399delinsTG (p.Val1133=)
c.*3350_*3351delinsTG (n.*3350_*3351delinsTG)
c.3290_3291delinsTG (p.Val1097=)
c.3344_3345delinsTG (p.Val1115=)
c.1697_1698delinsTG
c.*2666_*2667delinsTG (n.*2666_*2667delinsTG)
c.230+9966_230+9967delinsTG
c.3374_3375delinsTG (p.Val1125=)
c.3269_3270delinsTG (p.Val1090=)
c.3260_3261delinsTG (p.Val1087=)
c.3221_3222delinsTG (p.Val1074=)
c.3167_3168delinsTG (p.Val1056=)
c.3071_3072delinsTG (p.Val1024=)
c.3041_3042delinsTG (p.Val1014=)
c.2966_2967delinsTG (p.Val989=)
c.2864_2865delinsTG (p.Val955=)
c.2495_2496delinsTG (p.Val832=)
5g.112838939G>ACA445963645APCc.3010G>A (n.3010G>A)
c.3399G>A (p.Val1133=)
c.*3351G>A (n.*3351G>A)
c.3291G>A (p.Val1097=)
c.3345G>A (p.Val1115=)
c.1698G>A
c.*2667G>A (n.*2667G>A)
c.230+9967G>A
c.3375G>A (p.Val1125=)
c.3270G>A (p.Val1090=)
c.3261G>A (p.Val1087=)
c.3222G>A (p.Val1074=)
c.3168G>A (p.Val1056=)
c.3072G>A (p.Val1024=)
c.3042G>A (p.Val1014=)
c.2967G>A (p.Val989=)
c.2865G>A (p.Val955=)
c.2496G>A (p.Val832=)
 ClinVar dbSNP
5g.112838939G>CCA445963646APCc.3010G>C (n.3010G>C)
c.3399G>C (p.Val1133=)
c.*3351G>C (n.*3351G>C)
c.3291G>C (p.Val1097=)
c.3345G>C (p.Val1115=)
c.1698G>C
c.*2667G>C (n.*2667G>C)
c.230+9967G>C
c.3375G>C (p.Val1125=)
c.3270G>C (p.Val1090=)
c.3261G>C (p.Val1087=)
c.3222G>C (p.Val1074=)
c.3168G>C (p.Val1056=)
c.3072G>C (p.Val1024=)
c.3042G>C (p.Val1014=)
c.2967G>C (p.Val989=)
c.2865G>C (p.Val955=)
c.2496G>C (p.Val832=)
 dbSNP
5g.112838939G=CA1573487759APCc.3010G= (n.3010G=)
c.3399G= (p.Val1133=)
c.*3351G= (n.*3351G=)
c.3291G= (p.Val1097=)
c.3345G= (p.Val1115=)
c.1698G=
c.*2667G= (n.*2667G=)
c.230+9967G=
c.3375G= (p.Val1125=)
c.3270G= (p.Val1090=)
c.3261G= (p.Val1087=)
c.3222G= (p.Val1074=)
c.3168G= (p.Val1056=)
c.3072G= (p.Val1024=)
c.3042G= (p.Val1014=)
c.2967G= (p.Val989=)
c.2865G= (p.Val955=)
c.2496G= (p.Val832=)
5g.112838939G>TCA445963647APCc.3010G>T (n.3010G>T)
c.3399G>T (p.Val1133=)
c.*3351G>T (n.*3351G>T)
c.3291G>T (p.Val1097=)
c.3345G>T (p.Val1115=)
c.1698G>T
c.*2667G>T (n.*2667G>T)
c.230+9967G>T
c.3375G>T (p.Val1125=)
c.3270G>T (p.Val1090=)
c.3261G>T (p.Val1087=)
c.3222G>T (p.Val1074=)
c.3168G>T (p.Val1056=)
c.3072G>T (p.Val1024=)
c.3042G>T (p.Val1014=)
c.2967G>T (p.Val989=)
c.2865G>T (p.Val955=)
c.2496G>T (p.Val832=)
 ClinVar dbSNP
5g.112838939_112838941delinsTTTGTCA2695204927APCc.3010_3012delinsTTTGT (n.3010_3012delinsTTTGT)
c.3399_3401delinsTTTGT (p.Gly1134LeufsTer11)
c.*3351_*3353delinsTTTGT (n.*3351_*3353delinsTTTGT)
c.3291_3293delinsTTTGT (p.Gly1098LeufsTer11)
c.3345_3347delinsTTTGT (p.Gly1116LeufsTer11)
c.1698_1700delinsTTTGT
c.*2667_*2669delinsTTTGT (n.*2667_*2669delinsTTTGT)
c.230+9967_230+9969delinsTTTGT
c.3375_3377delinsTTTGT (p.Gly1126LeufsTer11)
c.3270_3272delinsTTTGT (p.Gly1091LeufsTer11)
c.3261_3263delinsTTTGT (p.Gly1088LeufsTer11)
c.3222_3224delinsTTTGT (p.Gly1075LeufsTer11)
c.3168_3170delinsTTTGT (p.Gly1057LeufsTer11)
c.3072_3074delinsTTTGT (p.Gly1025LeufsTer11)
c.3042_3044delinsTTTGT (p.Gly1015LeufsTer11)
c.2967_2969delinsTTTGT (p.Gly990LeufsTer11)
c.2865_2867delinsTTTGT (p.Gly956LeufsTer11)
c.2496_2498delinsTTTGT (p.Gly833LeufsTer11)
5g.112838941delCA645369364APCc.3012del (n.3012del)
c.3401del (p.Gly1134ValfsTer10)
c.*3353del (n.*3353del)
c.3293del (p.Gly1098ValfsTer10)
c.3347del (p.Gly1116ValfsTer10)
c.1700del
c.*2669del (n.*2669del)
c.230+9969del
c.3377del (p.Gly1126ValfsTer10)
c.3272del (p.Gly1091ValfsTer10)
c.3263del (p.Gly1088ValfsTer10)
c.3224del (p.Gly1075ValfsTer10)
c.3170del (p.Gly1057ValfsTer10)
c.3074del (p.Gly1025ValfsTer10)
c.3044del (p.Gly1015ValfsTer10)
c.2969del (p.Gly990ValfsTer10)
c.2867del (p.Gly956ValfsTer10)
c.2498del (p.Gly833ValfsTer10)
 ClinVar dbSNP
5g.112838940G>ACA16028664APCc.3011G>A (n.3011G>A)
c.3400G>A (p.Gly1134Ser)
c.*3352G>A (n.*3352G>A)
c.3292G>A (p.Gly1098Ser)
c.3346G>A (p.Gly1116Ser)
c.1699G>A
c.*2668G>A (n.*2668G>A)
c.230+9968G>A
c.3376G>A (p.Gly1126Ser)
c.3271G>A (p.Gly1091Ser)
c.3262G>A (p.Gly1088Ser)
c.3223G>A (p.Gly1075Ser)
c.3169G>A (p.Gly1057Ser)
c.3073G>A (p.Gly1025Ser)
c.3043G>A (p.Gly1015Ser)
c.2968G>A (p.Gly990Ser)
c.2866G>A (p.Gly956Ser)
c.2497G>A (p.Gly833Ser)
 dbSNP gnomAD v4
5g.112838940G>CCA16028665APCc.3011G>C (n.3011G>C)
c.3400G>C (p.Gly1134Arg)
c.*3352G>C (n.*3352G>C)
c.3292G>C (p.Gly1098Arg)
c.3346G>C (p.Gly1116Arg)
c.1699G>C
c.*2668G>C (n.*2668G>C)
c.230+9968G>C
c.3376G>C (p.Gly1126Arg)
c.3271G>C (p.Gly1091Arg)
c.3262G>C (p.Gly1088Arg)
c.3223G>C (p.Gly1075Arg)
c.3169G>C (p.Gly1057Arg)
c.3073G>C (p.Gly1025Arg)
c.3043G>C (p.Gly1015Arg)
c.2968G>C (p.Gly990Arg)
c.2866G>C (p.Gly956Arg)
c.2497G>C (p.Gly833Arg)
 dbSNP
5g.112838940G>TCA16028666APCc.3011G>T (n.3011G>T)
c.3400G>T (p.Gly1134Cys)
c.*3352G>T (n.*3352G>T)
c.3292G>T (p.Gly1098Cys)
c.3346G>T (p.Gly1116Cys)
c.1699G>T
c.*2668G>T (n.*2668G>T)
c.230+9968G>T
c.3376G>T (p.Gly1126Cys)
c.3271G>T (p.Gly1091Cys)
c.3262G>T (p.Gly1088Cys)
c.3223G>T (p.Gly1075Cys)
c.3169G>T (p.Gly1057Cys)
c.3073G>T (p.Gly1025Cys)
c.3043G>T (p.Gly1015Cys)
c.2968G>T (p.Gly990Cys)
c.2866G>T (p.Gly956Cys)
c.2497G>T (p.Gly833Cys)
 dbSNP
5g.112838941G>ACA008298APCc.3012G>A (n.3012G>A)
c.3401G>A (p.Gly1134Asp)
c.*3353G>A (n.*3353G>A)
c.3293G>A (p.Gly1098Asp)
c.3347G>A (p.Gly1116Asp)
c.1700G>A
c.*2669G>A (n.*2669G>A)
c.230+9969G>A
c.3377G>A (p.Gly1126Asp)
c.3272G>A (p.Gly1091Asp)
c.3263G>A (p.Gly1088Asp)
c.3224G>A (p.Gly1075Asp)
c.3170G>A (p.Gly1057Asp)
c.3074G>A (p.Gly1025Asp)
c.3044G>A (p.Gly1015Asp)
c.2969G>A (p.Gly990Asp)
c.2867G>A (p.Gly956Asp)
c.2498G>A (p.Gly833Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838941G>CCA16028667APCc.3012G>C (n.3012G>C)
c.3401G>C (p.Gly1134Ala)
c.*3353G>C (n.*3353G>C)
c.3293G>C (p.Gly1098Ala)
c.3347G>C (p.Gly1116Ala)
c.1700G>C
c.*2669G>C (n.*2669G>C)
c.230+9969G>C
c.3377G>C (p.Gly1126Ala)
c.3272G>C (p.Gly1091Ala)
c.3263G>C (p.Gly1088Ala)
c.3224G>C (p.Gly1075Ala)
c.3170G>C (p.Gly1057Ala)
c.3074G>C (p.Gly1025Ala)
c.3044G>C (p.Gly1015Ala)
c.2969G>C (p.Gly990Ala)
c.2867G>C (p.Gly956Ala)
c.2498G>C (p.Gly833Ala)
 dbSNP
5g.112838941G=CA1573487774APCc.3012G= (n.3012G=)
c.3401G= (p.Gly1134=)
c.*3353G= (n.*3353G=)
c.3293G= (p.Gly1098=)
c.3347G= (p.Gly1116=)
c.1700G=
c.*2669G= (n.*2669G=)
c.230+9969G=
c.3377G= (p.Gly1126=)
c.3272G= (p.Gly1091=)
c.3263G= (p.Gly1088=)
c.3224G= (p.Gly1075=)
c.3170G= (p.Gly1057=)
c.3074G= (p.Gly1025=)
c.3044G= (p.Gly1015=)
c.2969G= (p.Gly990=)
c.2867G= (p.Gly956=)
c.2498G= (p.Gly833=)
5g.112838941G>TCA16028668APCc.3012G>T (n.3012G>T)
c.3401G>T (p.Gly1134Val)
c.*3353G>T (n.*3353G>T)
c.3293G>T (p.Gly1098Val)
c.3347G>T (p.Gly1116Val)
c.1700G>T
c.*2669G>T (n.*2669G>T)
c.230+9969G>T
c.3377G>T (p.Gly1126Val)
c.3272G>T (p.Gly1091Val)
c.3263G>T (p.Gly1088Val)
c.3224G>T (p.Gly1075Val)
c.3170G>T (p.Gly1057Val)
c.3074G>T (p.Gly1025Val)
c.3044G>T (p.Gly1015Val)
c.2969G>T (p.Gly990Val)
c.2867G>T (p.Gly956Val)
c.2498G>T (p.Gly833Val)
 ClinVar dbSNP
5g.112838942T>ACA445963648APCc.3013T>A (n.3013T>A)
c.3402T>A (p.Gly1134=)
c.*3354T>A (n.*3354T>A)
c.3294T>A (p.Gly1098=)
c.3348T>A (p.Gly1116=)
c.1701T>A
c.*2670T>A (n.*2670T>A)
c.230+9970T>A
c.3378T>A (p.Gly1126=)
c.3273T>A (p.Gly1091=)
c.3264T>A (p.Gly1088=)
c.3225T>A (p.Gly1075=)
c.3171T>A (p.Gly1057=)
c.3075T>A (p.Gly1025=)
c.3045T>A (p.Gly1015=)
c.2970T>A (p.Gly990=)
c.2868T>A (p.Gly956=)
c.2499T>A (p.Gly833=)
 dbSNP
5g.112838942T>CCA445963649APCc.3013T>C (n.3013T>C)
c.3402T>C (p.Gly1134=)
c.*3354T>C (n.*3354T>C)
c.3294T>C (p.Gly1098=)
c.3348T>C (p.Gly1116=)
c.1701T>C
c.*2670T>C (n.*2670T>C)
c.230+9970T>C
c.3378T>C (p.Gly1126=)
c.3273T>C (p.Gly1091=)
c.3264T>C (p.Gly1088=)
c.3225T>C (p.Gly1075=)
c.3171T>C (p.Gly1057=)
c.3075T>C (p.Gly1025=)
c.3045T>C (p.Gly1015=)
c.2970T>C (p.Gly990=)
c.2868T>C (p.Gly956=)
c.2499T>C (p.Gly833=)
 dbSNP COSMIC
5g.112838942T>GCA445963652APCc.3013T>G (n.3013T>G)
c.3402T>G (p.Gly1134=)
c.*3354T>G (n.*3354T>G)
c.3294T>G (p.Gly1098=)
c.3348T>G (p.Gly1116=)
c.1701T>G
c.*2670T>G (n.*2670T>G)
c.230+9970T>G
c.3378T>G (p.Gly1126=)
c.3273T>G (p.Gly1091=)
c.3264T>G (p.Gly1088=)
c.3225T>G (p.Gly1075=)
c.3171T>G (p.Gly1057=)
c.3075T>G (p.Gly1025=)
c.3045T>G (p.Gly1015=)
c.2970T>G (p.Gly990=)
c.2868T>G (p.Gly956=)
c.2499T>G (p.Gly833=)
 ClinVar dbSNP
5g.112838942T=CA1573487783APCc.3013T= (n.3013T=)
c.3402T= (p.Gly1134=)
c.*3354T= (n.*3354T=)
c.3294T= (p.Gly1098=)
c.3348T= (p.Gly1116=)
c.1701T=
c.*2670T= (n.*2670T=)
c.230+9970T=
c.3378T= (p.Gly1126=)
c.3273T= (p.Gly1091=)
c.3264T= (p.Gly1088=)
c.3225T= (p.Gly1075=)
c.3171T= (p.Gly1057=)
c.3075T= (p.Gly1025=)
c.3045T= (p.Gly1015=)
c.2970T= (p.Gly990=)
c.2868T= (p.Gly956=)
c.2499T= (p.Gly833=)
5g.112838943delCA2582341510APCc.3014del (n.3014del)
c.3403del (p.Ser1135LeufsTer9)
c.*3355del (n.*3355del)
c.3295del (p.Ser1099LeufsTer9)
c.3349del (p.Ser1117LeufsTer9)
c.1702del
c.*2671del (n.*2671del)
c.230+9971del
c.3379del (p.Ser1127LeufsTer9)
c.3274del (p.Ser1092LeufsTer9)
c.3265del (p.Ser1089LeufsTer9)
c.3226del (p.Ser1076LeufsTer9)
c.3172del (p.Ser1058LeufsTer9)
c.3076del (p.Ser1026LeufsTer9)
c.3046del (p.Ser1016LeufsTer9)
c.2971del (p.Ser991LeufsTer9)
c.2869del (p.Ser957LeufsTer9)
c.2500del (p.Ser834LeufsTer9)
 ClinVar
5g.112838943T>ACA16028669APCc.3014T>A (n.3014T>A)
c.3403T>A (p.Ser1135Thr)
c.*3355T>A (n.*3355T>A)
c.3295T>A (p.Ser1099Thr)
c.3349T>A (p.Ser1117Thr)
c.1702T>A
c.*2671T>A (n.*2671T>A)
c.230+9971T>A
c.3379T>A (p.Ser1127Thr)
c.3274T>A (p.Ser1092Thr)
c.3265T>A (p.Ser1089Thr)
c.3226T>A (p.Ser1076Thr)
c.3172T>A (p.Ser1058Thr)
c.3076T>A (p.Ser1026Thr)
c.3046T>A (p.Ser1016Thr)
c.2971T>A (p.Ser991Thr)
c.2869T>A (p.Ser957Thr)
c.2500T>A (p.Ser834Thr)
 dbSNP
5g.112838943T>CCA16028670APCc.3014T>C (n.3014T>C)
c.3403T>C (p.Ser1135Pro)
c.*3355T>C (n.*3355T>C)
c.3295T>C (p.Ser1099Pro)
c.3349T>C (p.Ser1117Pro)
c.1702T>C
c.*2671T>C (n.*2671T>C)
c.230+9971T>C
c.3379T>C (p.Ser1127Pro)
c.3274T>C (p.Ser1092Pro)
c.3265T>C (p.Ser1089Pro)
c.3226T>C (p.Ser1076Pro)
c.3172T>C (p.Ser1058Pro)
c.3076T>C (p.Ser1026Pro)
c.3046T>C (p.Ser1016Pro)
c.2971T>C (p.Ser991Pro)
c.2869T>C (p.Ser957Pro)
c.2500T>C (p.Ser834Pro)
 dbSNP
5g.112838943T>GCA16028671APCc.3014T>G (n.3014T>G)
c.3403T>G (p.Ser1135Ala)
c.*3355T>G (n.*3355T>G)
c.3295T>G (p.Ser1099Ala)
c.3349T>G (p.Ser1117Ala)
c.1702T>G
c.*2671T>G (n.*2671T>G)
c.230+9971T>G
c.3379T>G (p.Ser1127Ala)
c.3274T>G (p.Ser1092Ala)
c.3265T>G (p.Ser1089Ala)
c.3226T>G (p.Ser1076Ala)
c.3172T>G (p.Ser1058Ala)
c.3076T>G (p.Ser1026Ala)
c.3046T>G (p.Ser1016Ala)
c.2971T>G (p.Ser991Ala)
c.2869T>G (p.Ser957Ala)
c.2500T>G (p.Ser834Ala)
 dbSNP
5g.112838944delCA2695204928APCc.3015del (n.3015del)
c.3404del (p.Ser1135LeufsTer9)
c.*3356del (n.*3356del)
c.3296del (p.Ser1099LeufsTer9)
c.3350del (p.Ser1117LeufsTer9)
c.1703del
c.*2672del (n.*2672del)
c.230+9972del
c.3380del (p.Ser1127LeufsTer9)
c.3275del (p.Ser1092LeufsTer9)
c.3266del (p.Ser1089LeufsTer9)
c.3227del (p.Ser1076LeufsTer9)
c.3173del (p.Ser1058LeufsTer9)
c.3077del (p.Ser1026LeufsTer9)
c.3047del (p.Ser1016LeufsTer9)
c.2972del (p.Ser991LeufsTer9)
c.2870del (p.Ser957LeufsTer9)
c.2501del (p.Ser834LeufsTer9)
5g.112838944C>ACA16028672APCc.3015C>A (n.3015C>A)
c.3404C>A (p.Ser1135Tyr)
c.*3356C>A (n.*3356C>A)
c.3296C>A (p.Ser1099Tyr)
c.3350C>A (p.Ser1117Tyr)
c.1703C>A
c.*2672C>A (n.*2672C>A)
c.230+9972C>A
c.3380C>A (p.Ser1127Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3266C>A (p.Ser1089Tyr)
c.3227C>A (p.Ser1076Tyr)
c.3173C>A (p.Ser1058Tyr)
c.3077C>A (p.Ser1026Tyr)
c.3047C>A (p.Ser1016Tyr)
c.2972C>A (p.Ser991Tyr)
c.2870C>A (p.Ser957Tyr)
c.2501C>A (p.Ser834Tyr)
 dbSNP gnomAD v4
5g.112838944C=CA1573487786APCc.3015C= (n.3015C=)
c.3404C= (p.Ser1135=)
c.*3356C= (n.*3356C=)
c.3296C= (p.Ser1099=)
c.3350C= (p.Ser1117=)
c.1703C=
c.*2672C= (n.*2672C=)
c.230+9972C=
c.3380C= (p.Ser1127=)
c.3275C= (p.Ser1092=)
c.3266C= (p.Ser1089=)
c.3227C= (p.Ser1076=)
c.3173C= (p.Ser1058=)
c.3077C= (p.Ser1026=)
c.3047C= (p.Ser1016=)
c.2972C= (p.Ser991=)
c.2870C= (p.Ser957=)
c.2501C= (p.Ser834=)
5g.112838944C>GCA16028673APCc.3015C>G (n.3015C>G)
c.3404C>G (p.Ser1135Cys)
c.*3356C>G (n.*3356C>G)
c.3296C>G (p.Ser1099Cys)
c.3350C>G (p.Ser1117Cys)
c.1703C>G
c.*2672C>G (n.*2672C>G)
c.230+9972C>G
c.3380C>G (p.Ser1127Cys)
c.3275C>G (p.Ser1092Cys)
c.3266C>G (p.Ser1089Cys)
c.3227C>G (p.Ser1076Cys)
c.3173C>G (p.Ser1058Cys)
c.3077C>G (p.Ser1026Cys)
c.3047C>G (p.Ser1016Cys)
c.2972C>G (p.Ser991Cys)
c.2870C>G (p.Ser957Cys)
c.2501C>G (p.Ser834Cys)
 dbSNP
5g.112838944C>TCA16028674APCc.3015C>T (n.3015C>T)
c.3404C>T (p.Ser1135Phe)
c.*3356C>T (n.*3356C>T)
c.3296C>T (p.Ser1099Phe)
c.3350C>T (p.Ser1117Phe)
c.1703C>T
c.*2672C>T (n.*2672C>T)
c.230+9972C>T
c.3380C>T (p.Ser1127Phe)
c.3275C>T (p.Ser1092Phe)
c.3266C>T (p.Ser1089Phe)
c.3227C>T (p.Ser1076Phe)
c.3173C>T (p.Ser1058Phe)
c.3077C>T (p.Ser1026Phe)
c.3047C>T (p.Ser1016Phe)
c.2972C>T (p.Ser991Phe)
c.2870C>T (p.Ser957Phe)
c.2501C>T (p.Ser834Phe)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112838945T>ACA445963654APCc.3016T>A (n.3016T>A)
c.3405T>A (p.Ser1135=)
c.*3357T>A (n.*3357T>A)
c.3297T>A (p.Ser1099=)
c.3351T>A (p.Ser1117=)
c.1704T>A
c.*2673T>A (n.*2673T>A)
c.230+9973T>A
c.3381T>A (p.Ser1127=)
c.3276T>A (p.Ser1092=)
c.3267T>A (p.Ser1089=)
c.3228T>A (p.Ser1076=)
c.3174T>A (p.Ser1058=)
c.3078T>A (p.Ser1026=)
c.3048T>A (p.Ser1016=)
c.2973T>A (p.Ser991=)
c.2871T>A (p.Ser957=)
c.2502T>A (p.Ser834=)
5g.112838945T>CCA445963657APCc.3016T>C (n.3016T>C)
c.3405T>C (p.Ser1135=)
c.*3357T>C (n.*3357T>C)
c.3297T>C (p.Ser1099=)
c.3351T>C (p.Ser1117=)
c.1704T>C
c.*2673T>C (n.*2673T>C)
c.230+9973T>C
c.3381T>C (p.Ser1127=)
c.3276T>C (p.Ser1092=)
c.3267T>C (p.Ser1089=)
c.3228T>C (p.Ser1076=)
c.3174T>C (p.Ser1058=)
c.3078T>C (p.Ser1026=)
c.3048T>C (p.Ser1016=)
c.2973T>C (p.Ser991=)
c.2871T>C (p.Ser957=)
c.2502T>C (p.Ser834=)
 ClinVar
5g.112838945T>GCA445963655APCc.3016T>G (n.3016T>G)
c.3405T>G (p.Ser1135=)
c.*3357T>G (n.*3357T>G)
c.3297T>G (p.Ser1099=)
c.3351T>G (p.Ser1117=)
c.1704T>G
c.*2673T>G (n.*2673T>G)
c.230+9973T>G
c.3381T>G (p.Ser1127=)
c.3276T>G (p.Ser1092=)
c.3267T>G (p.Ser1089=)
c.3228T>G (p.Ser1076=)
c.3174T>G (p.Ser1058=)
c.3078T>G (p.Ser1026=)
c.3048T>G (p.Ser1016=)
c.2973T>G (p.Ser991=)
c.2871T>G (p.Ser957=)
c.2502T>G (p.Ser834=)
5g.112838946A=CA1573487806APCc.3017A= (n.3017A=)
c.3406A= (p.Asn1136=)
c.*3358A= (n.*3358A=)
c.3298A= (p.Asn1100=)
c.3352A= (p.Asn1118=)
c.1705A=
c.*2674A= (n.*2674A=)
c.230+9974A=
c.3382A= (p.Asn1128=)
c.3277A= (p.Asn1093=)
c.3268A= (p.Asn1090=)
c.3229A= (p.Asn1077=)
c.3175A= (p.Asn1059=)
c.3079A= (p.Asn1027=)
c.3049A= (p.Asn1017=)
c.2974A= (p.Asn992=)
c.2872A= (p.Asn958=)
c.2503A= (p.Asn835=)
5g.112838946A>CCA16028675APCc.3017A>C (n.3017A>C)
c.3406A>C (p.Asn1136His)
c.*3358A>C (n.*3358A>C)
c.3298A>C (p.Asn1100His)
c.3352A>C (p.Asn1118His)
c.1705A>C
c.*2674A>C (n.*2674A>C)
c.230+9974A>C
c.3382A>C (p.Asn1128His)
c.3277A>C (p.Asn1093His)
c.3268A>C (p.Asn1090His)
c.3229A>C (p.Asn1077His)
c.3175A>C (p.Asn1059His)
c.3079A>C (p.Asn1027His)
c.3049A>C (p.Asn1017His)
c.2974A>C (p.Asn992His)
c.2872A>C (p.Asn958His)
c.2503A>C (p.Asn835His)
 ClinVar dbSNP
5g.112838946A>GCA008306APCc.3017A>G (n.3017A>G)
c.3406A>G (p.Asn1136Asp)
c.*3358A>G (n.*3358A>G)
c.3298A>G (p.Asn1100Asp)
c.3352A>G (p.Asn1118Asp)
c.1705A>G
c.*2674A>G (n.*2674A>G)
c.230+9974A>G
c.3382A>G (p.Asn1128Asp)
c.3277A>G (p.Asn1093Asp)
c.3268A>G (p.Asn1090Asp)
c.3229A>G (p.Asn1077Asp)
c.3175A>G (p.Asn1059Asp)
c.3079A>G (p.Asn1027Asp)
c.3049A>G (p.Asn1017Asp)
c.2974A>G (p.Asn992Asp)
c.2872A>G (p.Asn958Asp)
c.2503A>G (p.Asn835Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112838946A>TCA16028676APCc.3017A>T (n.3017A>T)
c.3406A>T (p.Asn1136Tyr)
c.*3358A>T (n.*3358A>T)
c.3298A>T (p.Asn1100Tyr)
c.3352A>T (p.Asn1118Tyr)
c.1705A>T
c.*2674A>T (n.*2674A>T)
c.230+9974A>T
c.3382A>T (p.Asn1128Tyr)
c.3277A>T (p.Asn1093Tyr)
c.3268A>T (p.Asn1090Tyr)
c.3229A>T (p.Asn1077Tyr)
c.3175A>T (p.Asn1059Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3049A>T (p.Asn1017Tyr)
c.2974A>T (p.Asn992Tyr)
c.2872A>T (p.Asn958Tyr)
c.2503A>T (p.Asn835Tyr)
 dbSNP
5g.112838947A=CA1573487817APCc.3018A= (n.3018A=)
c.3407A= (p.Asn1136=)
c.*3359A= (n.*3359A=)
c.3299A= (p.Asn1100=)
c.3353A= (p.Asn1118=)
c.1706A=
c.*2675A= (n.*2675A=)
c.230+9975A=
c.3383A= (p.Asn1128=)
c.3278A= (p.Asn1093=)
c.3269A= (p.Asn1090=)
c.3230A= (p.Asn1077=)
c.3176A= (p.Asn1059=)
c.3080A= (p.Asn1027=)
c.3050A= (p.Asn1017=)
c.2975A= (p.Asn992=)
c.2873A= (p.Asn958=)
c.2504A= (p.Asn835=)
5g.112838947A>CCA035129APCc.3018A>C (n.3018A>C)
c.3407A>C (p.Asn1136Thr)
c.*3359A>C (n.*3359A>C)
c.3299A>C (p.Asn1100Thr)
c.3353A>C (p.Asn1118Thr)
c.1706A>C
c.*2675A>C (n.*2675A>C)
c.230+9975A>C
c.3383A>C (p.Asn1128Thr)
c.3278A>C (p.Asn1093Thr)
c.3269A>C (p.Asn1090Thr)
c.3230A>C (p.Asn1077Thr)
c.3176A>C (p.Asn1059Thr)
c.3080A>C (p.Asn1027Thr)
c.3050A>C (p.Asn1017Thr)
c.2975A>C (p.Asn992Thr)
c.2873A>C (p.Asn958Thr)
c.2504A>C (p.Asn835Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838947A>GCA16028677APCc.3018A>G (n.3018A>G)
c.3407A>G (p.Asn1136Ser)
c.*3359A>G (n.*3359A>G)
c.3299A>G (p.Asn1100Ser)
c.3353A>G (p.Asn1118Ser)
c.1706A>G
c.*2675A>G (n.*2675A>G)
c.230+9975A>G
c.3383A>G (p.Asn1128Ser)
c.3278A>G (p.Asn1093Ser)
c.3269A>G (p.Asn1090Ser)
c.3230A>G (p.Asn1077Ser)
c.3176A>G (p.Asn1059Ser)
c.3080A>G (p.Asn1027Ser)
c.3050A>G (p.Asn1017Ser)
c.2975A>G (p.Asn992Ser)
c.2873A>G (p.Asn958Ser)
c.2504A>G (p.Asn835Ser)
 ClinVar dbSNP
5g.112838947A>TCA16028678APCc.3018A>T (n.3018A>T)
c.3407A>T (p.Asn1136Ile)
c.*3359A>T (n.*3359A>T)
c.3299A>T (p.Asn1100Ile)
c.3353A>T (p.Asn1118Ile)
c.1706A>T
c.*2675A>T (n.*2675A>T)
c.230+9975A>T
c.3383A>T (p.Asn1128Ile)
c.3278A>T (p.Asn1093Ile)
c.3269A>T (p.Asn1090Ile)
c.3230A>T (p.Asn1077Ile)
c.3176A>T (p.Asn1059Ile)
c.3080A>T (p.Asn1027Ile)
c.3050A>T (p.Asn1017Ile)
c.2975A>T (p.Asn992Ile)
c.2873A>T (p.Asn958Ile)
c.2504A>T (p.Asn835Ile)
 dbSNP
5g.112838948T>ACA16028679APCc.3019T>A (n.3019T>A)
c.3408T>A (p.Asn1136Lys)
c.*3360T>A (n.*3360T>A)
c.3300T>A (p.Asn1100Lys)
c.3354T>A (p.Asn1118Lys)
c.1707T>A
c.*2676T>A (n.*2676T>A)
c.230+9976T>A
c.3384T>A (p.Asn1128Lys)
c.3279T>A (p.Asn1093Lys)
c.3270T>A (p.Asn1090Lys)
c.3231T>A (p.Asn1077Lys)
c.3177T>A (p.Asn1059Lys)
c.3081T>A (p.Asn1027Lys)
c.3051T>A (p.Asn1017Lys)
c.2976T>A (p.Asn992Lys)
c.2874T>A (p.Asn958Lys)
c.2505T>A (p.Asn835Lys)
 dbSNP COSMIC
5g.112838948T>CCA445963660APCc.3019T>C (n.3019T>C)
c.3408T>C (p.Asn1136=)
c.*3360T>C (n.*3360T>C)
c.3300T>C (p.Asn1100=)
c.3354T>C (p.Asn1118=)
c.1707T>C
c.*2676T>C (n.*2676T>C)
c.230+9976T>C
c.3384T>C (p.Asn1128=)
c.3279T>C (p.Asn1093=)
c.3270T>C (p.Asn1090=)
c.3231T>C (p.Asn1077=)
c.3177T>C (p.Asn1059=)
c.3081T>C (p.Asn1027=)
c.3051T>C (p.Asn1017=)
c.2976T>C (p.Asn992=)
c.2874T>C (p.Asn958=)
c.2505T>C (p.Asn835=)
 ClinVar dbSNP
5g.112838948T>GCA16028680APCc.3019T>G (n.3019T>G)
c.3408T>G (p.Asn1136Lys)
c.*3360T>G (n.*3360T>G)
c.3300T>G (p.Asn1100Lys)
c.3354T>G (p.Asn1118Lys)
c.1707T>G
c.*2676T>G (n.*2676T>G)
c.230+9976T>G
c.3384T>G (p.Asn1128Lys)
c.3279T>G (p.Asn1093Lys)
c.3270T>G (p.Asn1090Lys)
c.3231T>G (p.Asn1077Lys)
c.3177T>G (p.Asn1059Lys)
c.3081T>G (p.Asn1027Lys)
c.3051T>G (p.Asn1017Lys)
c.2976T>G (p.Asn992Lys)
c.2874T>G (p.Asn958Lys)
c.2505T>G (p.Asn835Lys)
 dbSNP
5g.112838949C>ACA16028681APCc.3020C>A (n.3020C>A)
c.3409C>A (p.His1137Asn)
c.*3361C>A (n.*3361C>A)
c.3301C>A (p.His1101Asn)
c.3355C>A (p.His1119Asn)
c.1708C>A
c.*2677C>A (n.*2677C>A)
c.230+9977C>A
c.3385C>A (p.His1129Asn)
c.3280C>A (p.His1094Asn)
c.3271C>A (p.His1091Asn)
c.3232C>A (p.His1078Asn)
c.3178C>A (p.His1060Asn)
c.3082C>A (p.His1028Asn)
c.3052C>A (p.His1018Asn)
c.2977C>A (p.His993Asn)
c.2875C>A (p.His959Asn)
c.2506C>A (p.His836Asn)
 dbSNP COSMIC
5g.112838949C=CA1573487826APCc.3020C= (n.3020C=)
c.3409C= (p.His1137=)
c.*3361C= (n.*3361C=)
c.3301C= (p.His1101=)
c.3355C= (p.His1119=)
c.1708C=
c.*2677C= (n.*2677C=)
c.230+9977C=
c.3385C= (p.His1129=)
c.3280C= (p.His1094=)
c.3271C= (p.His1091=)
c.3232C= (p.His1078=)
c.3178C= (p.His1060=)
c.3082C= (p.His1028=)
c.3052C= (p.His1018=)
c.2977C= (p.His993=)
c.2875C= (p.His959=)
c.2506C= (p.His836=)
5g.112838949C>GCA16028682APCc.3020C>G (n.3020C>G)
c.3409C>G (p.His1137Asp)
c.*3361C>G (n.*3361C>G)
c.3301C>G (p.His1101Asp)
c.3355C>G (p.His1119Asp)
c.1708C>G
c.*2677C>G (n.*2677C>G)
c.230+9977C>G
c.3385C>G (p.His1129Asp)
c.3280C>G (p.His1094Asp)
c.3271C>G (p.His1091Asp)
c.3232C>G (p.His1078Asp)
c.3178C>G (p.His1060Asp)
c.3082C>G (p.His1028Asp)
c.3052C>G (p.His1018Asp)
c.2977C>G (p.His993Asp)
c.2875C>G (p.His959Asp)
c.2506C>G (p.His836Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112838949C>TCA16028683APCc.3020C>T (n.3020C>T)
c.3409C>T (p.His1137Tyr)
c.*3361C>T (n.*3361C>T)
c.3301C>T (p.His1101Tyr)
c.3355C>T (p.His1119Tyr)
c.1708C>T
c.*2677C>T (n.*2677C>T)
c.230+9977C>T
c.3385C>T (p.His1129Tyr)
c.3280C>T (p.His1094Tyr)
c.3271C>T (p.His1091Tyr)
c.3232C>T (p.His1078Tyr)
c.3178C>T (p.His1060Tyr)
c.3082C>T (p.His1028Tyr)
c.3052C>T (p.His1018Tyr)
c.2977C>T (p.His993Tyr)
c.2875C>T (p.His959Tyr)
c.2506C>T (p.His836Tyr)
 ClinVar dbSNP
5g.112838950A=CA1573487838APCc.3021A= (n.3021A=)
c.3410A= (p.His1137=)
c.*3362A= (n.*3362A=)
c.3302A= (p.His1101=)
c.3356A= (p.His1119=)
c.1709A=
c.*2678A= (n.*2678A=)
c.230+9978A=
c.3386A= (p.His1129=)
c.3281A= (p.His1094=)
c.3272A= (p.His1091=)
c.3233A= (p.His1078=)
c.3179A= (p.His1060=)
c.3083A= (p.His1028=)
c.3053A= (p.His1018=)
c.2978A= (p.His993=)
c.2876A= (p.His959=)
c.2507A= (p.His836=)
5g.112838950A>CCA16028684APCc.3021A>C (n.3021A>C)
c.3410A>C (p.His1137Pro)
c.*3362A>C (n.*3362A>C)
c.3302A>C (p.His1101Pro)
c.3356A>C (p.His1119Pro)
c.1709A>C
c.*2678A>C (n.*2678A>C)
c.230+9978A>C
c.3386A>C (p.His1129Pro)
c.3281A>C (p.His1094Pro)
c.3272A>C (p.His1091Pro)
c.3233A>C (p.His1078Pro)
c.3179A>C (p.His1060Pro)
c.3083A>C (p.His1028Pro)
c.3053A>C (p.His1018Pro)
c.2978A>C (p.His993Pro)
c.2876A>C (p.His959Pro)
c.2507A>C (p.His836Pro)
5g.112838950A>GCA16028685APCc.3021A>G (n.3021A>G)
c.3410A>G (p.His1137Arg)
c.*3362A>G (n.*3362A>G)
c.3302A>G (p.His1101Arg)
c.3356A>G (p.His1119Arg)
c.1709A>G
c.*2678A>G (n.*2678A>G)
c.230+9978A>G
c.3386A>G (p.His1129Arg)
c.3281A>G (p.His1094Arg)
c.3272A>G (p.His1091Arg)
c.3233A>G (p.His1078Arg)
c.3179A>G (p.His1060Arg)
c.3083A>G (p.His1028Arg)
c.3053A>G (p.His1018Arg)
c.2978A>G (p.His993Arg)
c.2876A>G (p.His959Arg)
c.2507A>G (p.His836Arg)
 ClinVar dbSNP
5g.112838950A>TCA16028686APCc.3021A>T (n.3021A>T)
c.3410A>T (p.His1137Leu)
c.*3362A>T (n.*3362A>T)
c.3302A>T (p.His1101Leu)
c.3356A>T (p.His1119Leu)
c.1709A>T
c.*2678A>T (n.*2678A>T)
c.230+9978A>T
c.3386A>T (p.His1129Leu)
c.3281A>T (p.His1094Leu)
c.3272A>T (p.His1091Leu)
c.3233A>T (p.His1078Leu)
c.3179A>T (p.His1060Leu)
c.3083A>T (p.His1028Leu)
c.3053A>T (p.His1018Leu)
c.2978A>T (p.His993Leu)
c.2876A>T (p.His959Leu)
c.2507A>T (p.His836Leu)
 ClinVar dbSNP
5g.112838951T>ACA16028687APCc.3022T>A (n.3022T>A)
c.3411T>A (p.His1137Gln)
c.*3363T>A (n.*3363T>A)
c.3303T>A (p.His1101Gln)
c.3357T>A (p.His1119Gln)
c.1710T>A
c.*2679T>A (n.*2679T>A)
c.230+9979T>A
c.3387T>A (p.His1129Gln)
c.3282T>A (p.His1094Gln)
c.3273T>A (p.His1091Gln)
c.3234T>A (p.His1078Gln)
c.3180T>A (p.His1060Gln)
c.3084T>A (p.His1028Gln)
c.3054T>A (p.His1018Gln)
c.2979T>A (p.His993Gln)
c.2877T>A (p.His959Gln)
c.2508T>A (p.His836Gln)
5g.112838951T>CCA445963662APCc.3022T>C (n.3022T>C)
c.3411T>C (p.His1137=)
c.*3363T>C (n.*3363T>C)
c.3303T>C (p.His1101=)
c.3357T>C (p.His1119=)
c.1710T>C
c.*2679T>C (n.*2679T>C)
c.230+9979T>C
c.3387T>C (p.His1129=)
c.3282T>C (p.His1094=)
c.3273T>C (p.His1091=)
c.3234T>C (p.His1078=)
c.3180T>C (p.His1060=)
c.3084T>C (p.His1028=)
c.3054T>C (p.His1018=)
c.2979T>C (p.His993=)
c.2877T>C (p.His959=)
c.2508T>C (p.His836=)
 ClinVar dbSNP gnomAD v4
5g.112838951T>GCA16028688APCc.3022T>G (n.3022T>G)
c.3411T>G (p.His1137Gln)
c.*3363T>G (n.*3363T>G)
c.3303T>G (p.His1101Gln)
c.3357T>G (p.His1119Gln)
c.1710T>G
c.*2679T>G (n.*2679T>G)
c.230+9979T>G
c.3387T>G (p.His1129Gln)
c.3282T>G (p.His1094Gln)
c.3273T>G (p.His1091Gln)
c.3234T>G (p.His1078Gln)
c.3180T>G (p.His1060Gln)
c.3084T>G (p.His1028Gln)
c.3054T>G (p.His1018Gln)
c.2979T>G (p.His993Gln)
c.2877T>G (p.His959Gln)
c.2508T>G (p.His836Gln)
5g.112838951T=CA1573487843APCc.3022T= (n.3022T=)
c.3411T= (p.His1137=)
c.*3363T= (n.*3363T=)
c.3303T= (p.His1101=)
c.3357T= (p.His1119=)
c.1710T=
c.*2679T= (n.*2679T=)
c.230+9979T=
c.3387T= (p.His1129=)
c.3282T= (p.His1094=)
c.3273T= (p.His1091=)
c.3234T= (p.His1078=)
c.3180T= (p.His1060=)
c.3084T= (p.His1028=)
c.3054T= (p.His1018=)
c.2979T= (p.His993=)
c.2877T= (p.His959=)
c.2508T= (p.His836=)
5g.112838952G>ACA16028689APCc.3023G>A (n.3023G>A)
c.3412G>A (p.Gly1138Arg)
c.*3364G>A (n.*3364G>A)
c.3304G>A (p.Gly1102Arg)
c.3358G>A (p.Gly1120Arg)
c.1711G>A
c.*2680G>A (n.*2680G>A)
c.230+9980G>A
c.3388G>A (p.Gly1130Arg)
c.3283G>A (p.Gly1095Arg)
c.3274G>A (p.Gly1092Arg)
c.3235G>A (p.Gly1079Arg)
c.3181G>A (p.Gly1061Arg)
c.3085G>A (p.Gly1029Arg)
c.3055G>A (p.Gly1019Arg)
c.2980G>A (p.Gly994Arg)
c.2878G>A (p.Gly960Arg)
c.2509G>A (p.Gly837Arg)
 ClinVar dbSNP gnomAD v4
5g.112838952G>CCA16028690APCc.3023G>C (n.3023G>C)
c.3412G>C (p.Gly1138Arg)
c.*3364G>C (n.*3364G>C)
c.3304G>C (p.Gly1102Arg)
c.3358G>C (p.Gly1120Arg)
c.1711G>C
c.*2680G>C (n.*2680G>C)
c.230+9980G>C
c.3388G>C (p.Gly1130Arg)
c.3283G>C (p.Gly1095Arg)
c.3274G>C (p.Gly1092Arg)
c.3235G>C (p.Gly1079Arg)
c.3181G>C (p.Gly1061Arg)
c.3085G>C (p.Gly1029Arg)
c.3055G>C (p.Gly1019Arg)
c.2980G>C (p.Gly994Arg)
c.2878G>C (p.Gly960Arg)
c.2509G>C (p.Gly837Arg)
5g.112838952G=CA1573487850APCc.3023G= (n.3023G=)
c.3412G= (p.Gly1138=)
c.*3364G= (n.*3364G=)
c.3304G= (p.Gly1102=)
c.3358G= (p.Gly1120=)
c.1711G=
c.*2680G= (n.*2680G=)
c.230+9980G=
c.3388G= (p.Gly1130=)
c.3283G= (p.Gly1095=)
c.3274G= (p.Gly1092=)
c.3235G= (p.Gly1079=)
c.3181G= (p.Gly1061=)
c.3085G= (p.Gly1029=)
c.3055G= (p.Gly1019=)
c.2980G= (p.Gly994=)
c.2878G= (p.Gly960=)
c.2509G= (p.Gly837=)
5g.112838952G>TCA16028691APCc.3023G>T (n.3023G>T)
c.3412G>T (p.Gly1138Ter)
c.*3364G>T (n.*3364G>T)
c.3304G>T (p.Gly1102Ter)
c.3358G>T (p.Gly1120Ter)
c.1711G>T
c.*2680G>T (n.*2680G>T)
c.230+9980G>T
c.3388G>T (p.Gly1130Ter)
c.3283G>T (p.Gly1095Ter)
c.3274G>T (p.Gly1092Ter)
c.3235G>T (p.Gly1079Ter)
c.3181G>T (p.Gly1061Ter)
c.3085G>T (p.Gly1029Ter)
c.3055G>T (p.Gly1019Ter)
c.2980G>T (p.Gly994Ter)
c.2878G>T (p.Gly960Ter)
c.2509G>T (p.Gly837Ter)
 ClinVar dbSNP
5g.112838953dupCA2695204929APCc.3024dup (n.3024dup)
c.3413dup (p.Ile1139AsnfsTer2)
c.*3365dup (n.*3365dup)
c.3305dup (p.Ile1103AsnfsTer2)
c.3359dup (p.Ile1121AsnfsTer2)
c.1712dup
c.*2681dup (n.*2681dup)
c.230+9981dup
c.3389dup (p.Ile1131AsnfsTer2)
c.3284dup (p.Ile1096AsnfsTer2)
c.3275dup (p.Ile1093AsnfsTer2)
c.3236dup (p.Ile1080AsnfsTer2)
c.3182dup (p.Ile1062AsnfsTer2)
c.3086dup (p.Ile1030AsnfsTer2)
c.3056dup (p.Ile1020AsnfsTer2)
c.2981dup (p.Ile995AsnfsTer2)
c.2879dup (p.Ile961AsnfsTer2)
c.2510dup (p.Ile838AsnfsTer2)
5g.112838953G>ACA008319APCc.3024G>A (n.3024G>A)
c.3413G>A (p.Gly1138Glu)
c.*3365G>A (n.*3365G>A)
c.3305G>A (p.Gly1102Glu)
c.3359G>A (p.Gly1120Glu)
c.1712G>A
c.*2681G>A (n.*2681G>A)
c.230+9981G>A
c.3389G>A (p.Gly1130Glu)
c.3284G>A (p.Gly1095Glu)
c.3275G>A (p.Gly1092Glu)
c.3236G>A (p.Gly1079Glu)
c.3182G>A (p.Gly1061Glu)
c.3086G>A (p.Gly1029Glu)
c.3056G>A (p.Gly1019Glu)
c.2981G>A (p.Gly994Glu)
c.2879G>A (p.Gly960Glu)
c.2510G>A (p.Gly837Glu)
 ClinVar dbSNP COSMIC
5g.112838953G>CCA16028692APCc.3024G>C (n.3024G>C)
c.3413G>C (p.Gly1138Ala)
c.*3365G>C (n.*3365G>C)
c.3305G>C (p.Gly1102Ala)
c.3359G>C (p.Gly1120Ala)
c.1712G>C
c.*2681G>C (n.*2681G>C)
c.230+9981G>C
c.3389G>C (p.Gly1130Ala)
c.3284G>C (p.Gly1095Ala)
c.3275G>C (p.Gly1092Ala)
c.3236G>C (p.Gly1079Ala)
c.3182G>C (p.Gly1061Ala)
c.3086G>C (p.Gly1029Ala)
c.3056G>C (p.Gly1019Ala)
c.2981G>C (p.Gly994Ala)
c.2879G>C (p.Gly960Ala)
c.2510G>C (p.Gly837Ala)
 dbSNP COSMIC
5g.112838953G=CA1573487859APCc.3024G= (n.3024G=)
c.3413G= (p.Gly1138=)
c.*3365G= (n.*3365G=)
c.3305G= (p.Gly1102=)
c.3359G= (p.Gly1120=)
c.1712G=
c.*2681G= (n.*2681G=)
c.230+9981G=
c.3389G= (p.Gly1130=)
c.3284G= (p.Gly1095=)
c.3275G= (p.Gly1092=)
c.3236G= (p.Gly1079=)
c.3182G= (p.Gly1061=)
c.3086G= (p.Gly1029=)
c.3056G= (p.Gly1019=)
c.2981G= (p.Gly994=)
c.2879G= (p.Gly960=)
c.2510G= (p.Gly837=)
5g.112838953G>TCA16028693APCc.3024G>T (n.3024G>T)
c.3413G>T (p.Gly1138Val)
c.*3365G>T (n.*3365G>T)
c.3305G>T (p.Gly1102Val)
c.3359G>T (p.Gly1120Val)
c.1712G>T
c.*2681G>T (n.*2681G>T)
c.230+9981G>T
c.3389G>T (p.Gly1130Val)
c.3284G>T (p.Gly1095Val)
c.3275G>T (p.Gly1092Val)
c.3236G>T (p.Gly1079Val)
c.3182G>T (p.Gly1061Val)
c.3086G>T (p.Gly1029Val)
c.3056G>T (p.Gly1019Val)
c.2981G>T (p.Gly994Val)
c.2879G>T (p.Gly960Val)
c.2510G>T (p.Gly837Val)
 dbSNP
5g.112838954A>CCA445963663APCc.3025A>C (n.3025A>C)
c.3414A>C (p.Gly1138=)
c.*3366A>C (n.*3366A>C)
c.3306A>C (p.Gly1102=)
c.3360A>C (p.Gly1120=)
c.1713A>C
c.*2682A>C (n.*2682A>C)
c.230+9982A>C
c.3390A>C (p.Gly1130=)
c.3285A>C (p.Gly1095=)
c.3276A>C (p.Gly1092=)
c.3237A>C (p.Gly1079=)
c.3183A>C (p.Gly1061=)
c.3087A>C (p.Gly1029=)
c.3057A>C (p.Gly1019=)
c.2982A>C (p.Gly994=)
c.2880A>C (p.Gly960=)
c.2511A>C (p.Gly837=)
5g.112838954A>GCA445963666APCc.3025A>G (n.3025A>G)
c.3414A>G (p.Gly1138=)
c.*3366A>G (n.*3366A>G)
c.3306A>G (p.Gly1102=)
c.3360A>G (p.Gly1120=)
c.1713A>G
c.*2682A>G (n.*2682A>G)
c.230+9982A>G
c.3390A>G (p.Gly1130=)
c.3285A>G (p.Gly1095=)
c.3276A>G (p.Gly1092=)
c.3237A>G (p.Gly1079=)
c.3183A>G (p.Gly1061=)
c.3087A>G (p.Gly1029=)
c.3057A>G (p.Gly1019=)
c.2982A>G (p.Gly994=)
c.2880A>G (p.Gly960=)
c.2511A>G (p.Gly837=)
5g.112838954A>TCA445963669APCc.3025A>T (n.3025A>T)
c.3414A>T (p.Gly1138=)
c.*3366A>T (n.*3366A>T)
c.3306A>T (p.Gly1102=)
c.3360A>T (p.Gly1120=)
c.1713A>T
c.*2682A>T (n.*2682A>T)
c.230+9982A>T
c.3390A>T (p.Gly1130=)
c.3285A>T (p.Gly1095=)
c.3276A>T (p.Gly1092=)
c.3237A>T (p.Gly1079=)
c.3183A>T (p.Gly1061=)
c.3087A>T (p.Gly1029=)
c.3057A>T (p.Gly1019=)
c.2982A>T (p.Gly994=)
c.2880A>T (p.Gly960=)
c.2511A>T (p.Gly837=)
 ClinVar dbSNP
5g.112838955dupCA658760909APCc.3026dup (n.3026dup)
c.3415dup (p.Ile1139AsnfsTer2)
c.*3367dup (n.*3367dup)
c.3307dup (p.Ile1103AsnfsTer2)
c.3361dup (p.Ile1121AsnfsTer2)
c.1714dup
c.*2683dup (n.*2683dup)
c.230+9983dup
c.3391dup (p.Ile1131AsnfsTer2)
c.3286dup (p.Ile1096AsnfsTer2)
c.3277dup (p.Ile1093AsnfsTer2)
c.3238dup (p.Ile1080AsnfsTer2)
c.3184dup (p.Ile1062AsnfsTer2)
c.3088dup (p.Ile1030AsnfsTer2)
c.3058dup (p.Ile1020AsnfsTer2)
c.2983dup (p.Ile995AsnfsTer2)
c.2881dup (p.Ile961AsnfsTer2)
c.2512dup (p.Ile838AsnfsTer2)
5g.112838955delCA658760910APCc.3026del (n.3026del)
c.3415del (p.Ile1139LeufsTer5)
c.*3367del (n.*3367del)
c.3307del (p.Ile1103LeufsTer5)
c.3361del (p.Ile1121LeufsTer5)
c.1714del
c.*2683del (n.*2683del)
c.230+9983del
c.3391del (p.Ile1131LeufsTer5)
c.3286del (p.Ile1096LeufsTer5)
c.3277del (p.Ile1093LeufsTer5)
c.3238del (p.Ile1080LeufsTer5)
c.3184del (p.Ile1062LeufsTer5)
c.3088del (p.Ile1030LeufsTer5)
c.3058del (p.Ile1020LeufsTer5)
c.2983del (p.Ile995LeufsTer5)
c.2881del (p.Ile961LeufsTer5)
c.2512del (p.Ile838LeufsTer5)
5g.112838955A>CCA16028694APCc.3026A>C (n.3026A>C)
c.3415A>C (p.Ile1139Leu)
c.*3367A>C (n.*3367A>C)
c.3307A>C (p.Ile1103Leu)
c.3361A>C (p.Ile1121Leu)
c.1714A>C
c.*2683A>C (n.*2683A>C)
c.230+9983A>C
c.3391A>C (p.Ile1131Leu)
c.3286A>C (p.Ile1096Leu)
c.3277A>C (p.Ile1093Leu)
c.3238A>C (p.Ile1080Leu)
c.3184A>C (p.Ile1062Leu)
c.3088A>C (p.Ile1030Leu)
c.3058A>C (p.Ile1020Leu)
c.2983A>C (p.Ile995Leu)
c.2881A>C (p.Ile961Leu)
c.2512A>C (p.Ile838Leu)
5g.112838955A>GCA16028695APCc.3026A>G (n.3026A>G)
c.3415A>G (p.Ile1139Val)
c.*3367A>G (n.*3367A>G)
c.3307A>G (p.Ile1103Val)
c.3361A>G (p.Ile1121Val)
c.1714A>G
c.*2683A>G (n.*2683A>G)
c.230+9983A>G
c.3391A>G (p.Ile1131Val)
c.3286A>G (p.Ile1096Val)
c.3277A>G (p.Ile1093Val)
c.3238A>G (p.Ile1080Val)
c.3184A>G (p.Ile1062Val)
c.3088A>G (p.Ile1030Val)
c.3058A>G (p.Ile1020Val)
c.2983A>G (p.Ile995Val)
c.2881A>G (p.Ile961Val)
c.2512A>G (p.Ile838Val)
 ClinVar dbSNP
5g.112838955A>TCA16028696APCc.3026A>T (n.3026A>T)
c.3415A>T (p.Ile1139Phe)
c.*3367A>T (n.*3367A>T)
c.3307A>T (p.Ile1103Phe)
c.3361A>T (p.Ile1121Phe)
c.1714A>T
c.*2683A>T (n.*2683A>T)
c.230+9983A>T
c.3391A>T (p.Ile1131Phe)
c.3286A>T (p.Ile1096Phe)
c.3277A>T (p.Ile1093Phe)
c.3238A>T (p.Ile1080Phe)
c.3184A>T (p.Ile1062Phe)
c.3088A>T (p.Ile1030Phe)
c.3058A>T (p.Ile1020Phe)
c.2983A>T (p.Ile995Phe)
c.2881A>T (p.Ile961Phe)
c.2512A>T (p.Ile838Phe)
 dbSNP gnomAD v4
5g.112838956T>ACA16028697APCc.3027T>A (n.3027T>A)
c.3416T>A (p.Ile1139Asn)
c.*3368T>A (n.*3368T>A)
c.3308T>A (p.Ile1103Asn)
c.3362T>A (p.Ile1121Asn)
c.1715T>A
c.*2684T>A (n.*2684T>A)
c.230+9984T>A
c.3392T>A (p.Ile1131Asn)
c.3287T>A (p.Ile1096Asn)
c.3278T>A (p.Ile1093Asn)
c.3239T>A (p.Ile1080Asn)
c.3185T>A (p.Ile1062Asn)
c.3089T>A (p.Ile1030Asn)
c.3059T>A (p.Ile1020Asn)
c.2984T>A (p.Ile995Asn)
c.2882T>A (p.Ile961Asn)
c.2513T>A (p.Ile838Asn)
 ClinVar dbSNP
5g.112838956T>CCA16028698APCc.3027T>C (n.3027T>C)
c.3416T>C (p.Ile1139Thr)
c.*3368T>C (n.*3368T>C)
c.3308T>C (p.Ile1103Thr)
c.3362T>C (p.Ile1121Thr)
c.1715T>C
c.*2684T>C (n.*2684T>C)
c.230+9984T>C
c.3392T>C (p.Ile1131Thr)
c.3287T>C (p.Ile1096Thr)
c.3278T>C (p.Ile1093Thr)
c.3239T>C (p.Ile1080Thr)
c.3185T>C (p.Ile1062Thr)
c.3089T>C (p.Ile1030Thr)
c.3059T>C (p.Ile1020Thr)
c.2984T>C (p.Ile995Thr)
c.2882T>C (p.Ile961Thr)
c.2513T>C (p.Ile838Thr)
 ClinVar dbSNP
5g.112838956T>GCA16028699APCc.3027T>G (n.3027T>G)
c.3416T>G (p.Ile1139Ser)
c.*3368T>G (n.*3368T>G)
c.3308T>G (p.Ile1103Ser)
c.3362T>G (p.Ile1121Ser)
c.1715T>G
c.*2684T>G (n.*2684T>G)
c.230+9984T>G
c.3392T>G (p.Ile1131Ser)
c.3287T>G (p.Ile1096Ser)
c.3278T>G (p.Ile1093Ser)
c.3239T>G (p.Ile1080Ser)
c.3185T>G (p.Ile1062Ser)
c.3089T>G (p.Ile1030Ser)
c.3059T>G (p.Ile1020Ser)
c.2984T>G (p.Ile995Ser)
c.2882T>G (p.Ile961Ser)
c.2513T>G (p.Ile838Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.112838956T=CA1573487867APCc.3027T= (n.3027T=)
c.3416T= (p.Ile1139=)
c.*3368T= (n.*3368T=)
c.3308T= (p.Ile1103=)
c.3362T= (p.Ile1121=)
c.1715T=
c.*2684T= (n.*2684T=)
c.230+9984T=
c.3392T= (p.Ile1131=)
c.3287T= (p.Ile1096=)
c.3278T= (p.Ile1093=)
c.3239T= (p.Ile1080=)
c.3185T= (p.Ile1062=)
c.3089T= (p.Ile1030=)
c.3059T= (p.Ile1020=)
c.2984T= (p.Ile995=)
c.2882T= (p.Ile961=)
c.2513T= (p.Ile838=)
5g.112838957delCA2582341511APCc.3028del (n.3028del)
c.3417del (p.Asn1140IlefsTer4)
c.*3369del (n.*3369del)
c.3309del (p.Asn1104IlefsTer4)
c.3363del (p.Asn1122IlefsTer4)
c.1716del
c.*2685del (n.*2685del)
c.230+9985del
c.3393del (p.Asn1132IlefsTer4)
c.3288del (p.Asn1097IlefsTer4)
c.3279del (p.Asn1094IlefsTer4)
c.3240del (p.Asn1081IlefsTer4)
c.3186del (p.Asn1063IlefsTer4)
c.3090del (p.Asn1031IlefsTer4)
c.3060del (p.Asn1021IlefsTer4)
c.2985del (p.Asn996IlefsTer4)
c.2883del (p.Asn962IlefsTer4)
c.2514del (p.Asn839IlefsTer4)
 ClinVar
5g.112838957T>ACA445963674APCc.3028T>A (n.3028T>A)
c.3417T>A (p.Ile1139=)
c.*3369T>A (n.*3369T>A)
c.3309T>A (p.Ile1103=)
c.3363T>A (p.Ile1121=)
c.1716T>A
c.*2685T>A (n.*2685T>A)
c.230+9985T>A
c.3393T>A (p.Ile1131=)
c.3288T>A (p.Ile1096=)
c.3279T>A (p.Ile1093=)
c.3240T>A (p.Ile1080=)
c.3186T>A (p.Ile1062=)
c.3090T>A (p.Ile1030=)
c.3060T>A (p.Ile1020=)
c.2985T>A (p.Ile995=)
c.2883T>A (p.Ile961=)
c.2514T>A (p.Ile838=)
 dbSNP
5g.112838957T>CCA445963675APCc.3028T>C (n.3028T>C)
c.3417T>C (p.Ile1139=)
c.*3369T>C (n.*3369T>C)
c.3309T>C (p.Ile1103=)
c.3363T>C (p.Ile1121=)
c.1716T>C
c.*2685T>C (n.*2685T>C)
c.230+9985T>C
c.3393T>C (p.Ile1131=)
c.3288T>C (p.Ile1096=)
c.3279T>C (p.Ile1093=)
c.3240T>C (p.Ile1080=)
c.3186T>C (p.Ile1062=)
c.3090T>C (p.Ile1030=)
c.3060T>C (p.Ile1020=)
c.2985T>C (p.Ile995=)
c.2883T>C (p.Ile961=)
c.2514T>C (p.Ile838=)
5g.112838957T>GCA16028700APCc.3028T>G (n.3028T>G)
c.3417T>G (p.Ile1139Met)
c.*3369T>G (n.*3369T>G)
c.3309T>G (p.Ile1103Met)
c.3363T>G (p.Ile1121Met)
c.1716T>G
c.*2685T>G (n.*2685T>G)
c.230+9985T>G
c.3393T>G (p.Ile1131Met)
c.3288T>G (p.Ile1096Met)
c.3279T>G (p.Ile1093Met)
c.3240T>G (p.Ile1080Met)
c.3186T>G (p.Ile1062Met)
c.3090T>G (p.Ile1030Met)
c.3060T>G (p.Ile1020Met)
c.2985T>G (p.Ile995Met)
c.2883T>G (p.Ile961Met)
c.2514T>G (p.Ile838Met)
5g.112838957_112838961delinsTAATCCA1573487874APCc.3028_3032delinsTAATC (n.3028_3032delinsTAATC)
c.3417_3421delinsTAATC (p.Ile1139=)
c.*3369_*3373delinsTAATC (n.*3369_*3373delinsTAATC)
c.3309_3313delinsTAATC (p.Ile1103=)
c.3363_3367delinsTAATC (p.Ile1121=)
c.1716_1720delinsTAATC
c.*2685_*2689delinsTAATC (n.*2685_*2689delinsTAATC)
c.230+9985_230+9989delinsTAATC
c.3393_3397delinsTAATC (p.Ile1131=)
c.3288_3292delinsTAATC (p.Ile1096=)
c.3279_3283delinsTAATC (p.Ile1093=)
c.3240_3244delinsTAATC (p.Ile1080=)
c.3186_3190delinsTAATC (p.Ile1062=)
c.3090_3094delinsTAATC (p.Ile1030=)
c.3060_3064delinsTAATC (p.Ile1020=)
c.2985_2989delinsTAATC (p.Ile995=)
c.2883_2887delinsTAATC (p.Ile961=)
c.2514_2518delinsTAATC (p.Ile838=)
5g.112838958A=CA1573487884APCc.3029A= (n.3029A=)
c.3418A= (p.Asn1140=)
c.*3370A= (n.*3370A=)
c.3310A= (p.Asn1104=)
c.3364A= (p.Asn1122=)
c.1717A=
c.*2686A= (n.*2686A=)
c.230+9986A=
c.3394A= (p.Asn1132=)
c.3289A= (p.Asn1097=)
c.3280A= (p.Asn1094=)
c.3241A= (p.Asn1081=)
c.3187A= (p.Asn1063=)
c.3091A= (p.Asn1031=)
c.3061A= (p.Asn1021=)
c.2986A= (p.Asn996=)
c.2884A= (p.Asn962=)
c.2515A= (p.Asn839=)
5g.112838958A>CCA16028701APCc.3029A>C (n.3029A>C)
c.3418A>C (p.Asn1140His)
c.*3370A>C (n.*3370A>C)
c.3310A>C (p.Asn1104His)
c.3364A>C (p.Asn1122His)
c.1717A>C
c.*2686A>C (n.*2686A>C)
c.230+9986A>C
c.3394A>C (p.Asn1132His)
c.3289A>C (p.Asn1097His)
c.3280A>C (p.Asn1094His)
c.3241A>C (p.Asn1081His)
c.3187A>C (p.Asn1063His)
c.3091A>C (p.Asn1031His)
c.3061A>C (p.Asn1021His)
c.2986A>C (p.Asn996His)
c.2884A>C (p.Asn962His)
c.2515A>C (p.Asn839His)
 ClinVar dbSNP
5g.112838958A>GCA16028702APCc.3029A>G (n.3029A>G)
c.3418A>G (p.Asn1140Asp)
c.*3370A>G (n.*3370A>G)
c.3310A>G (p.Asn1104Asp)
c.3364A>G (p.Asn1122Asp)
c.1717A>G
c.*2686A>G (n.*2686A>G)
c.230+9986A>G
c.3394A>G (p.Asn1132Asp)
c.3289A>G (p.Asn1097Asp)
c.3280A>G (p.Asn1094Asp)
c.3241A>G (p.Asn1081Asp)
c.3187A>G (p.Asn1063Asp)
c.3091A>G (p.Asn1031Asp)
c.3061A>G (p.Asn1021Asp)
c.2986A>G (p.Asn996Asp)
c.2884A>G (p.Asn962Asp)
c.2515A>G (p.Asn839Asp)
 ClinVar dbSNP COSMIC
5g.112838958A>TCA16028703APCc.3029A>T (n.3029A>T)
c.3418A>T (p.Asn1140Tyr)
c.*3370A>T (n.*3370A>T)
c.3310A>T (p.Asn1104Tyr)
c.3364A>T (p.Asn1122Tyr)
c.1717A>T
c.*2686A>T (n.*2686A>T)
c.230+9986A>T
c.3394A>T (p.Asn1132Tyr)
c.3289A>T (p.Asn1097Tyr)
c.3280A>T (p.Asn1094Tyr)
c.3241A>T (p.Asn1081Tyr)
c.3187A>T (p.Asn1063Tyr)
c.3091A>T (p.Asn1031Tyr)
c.3061A>T (p.Asn1021Tyr)
c.2986A>T (p.Asn996Tyr)
c.2884A>T (p.Asn962Tyr)
c.2515A>T (p.Asn839Tyr)
 dbSNP
5g.112838960_112838963delCA658760911APCc.3031_3034del (n.3031_3034del)
c.3420_3423del (p.Asn1140LysfsTer3)
c.*3372_*3375del (n.*3372_*3375del)
c.3312_3315del (p.Asn1104LysfsTer3)
c.3366_3369del (p.Asn1122LysfsTer3)
c.1719_1722del
c.*2688_*2691del (n.*2688_*2691del)
c.230+9988_230+9991del
c.3396_3399del (p.Asn1132LysfsTer3)
c.3291_3294del (p.Asn1097LysfsTer3)
c.3282_3285del (p.Asn1094LysfsTer3)
c.3243_3246del (p.Asn1081LysfsTer3)
c.3189_3192del (p.Asn1063LysfsTer3)
c.3093_3096del (p.Asn1031LysfsTer3)
c.3063_3066del (p.Asn1021LysfsTer3)
c.2988_2991del (p.Asn996LysfsTer3)
c.2886_2889del (p.Asn962LysfsTer3)
c.2517_2520del (p.Asn839LysfsTer3)
 ClinVar dbSNP
5g.112838959A=CA1573487894APCc.3030A= (n.3030A=)
c.3419A= (p.Asn1140=)
c.*3371A= (n.*3371A=)
c.3311A= (p.Asn1104=)
c.3365A= (p.Asn1122=)
c.1718A=
c.*2687A= (n.*2687A=)
c.230+9987A=
c.3395A= (p.Asn1132=)
c.3290A= (p.Asn1097=)
c.3281A= (p.Asn1094=)
c.3242A= (p.Asn1081=)
c.3188A= (p.Asn1063=)
c.3092A= (p.Asn1031=)
c.3062A= (p.Asn1021=)
c.2987A= (p.Asn996=)
c.2885A= (p.Asn962=)
c.2516A= (p.Asn839=)
5g.112838959A>CCA16028704APCc.3030A>C (n.3030A>C)
c.3419A>C (p.Asn1140Thr)
c.*3371A>C (n.*3371A>C)
c.3311A>C (p.Asn1104Thr)
c.3365A>C (p.Asn1122Thr)
c.1718A>C
c.*2687A>C (n.*2687A>C)
c.230+9987A>C
c.3395A>C (p.Asn1132Thr)
c.3290A>C (p.Asn1097Thr)
c.3281A>C (p.Asn1094Thr)
c.3242A>C (p.Asn1081Thr)
c.3188A>C (p.Asn1063Thr)
c.3092A>C (p.Asn1031Thr)
c.3062A>C (p.Asn1021Thr)
c.2987A>C (p.Asn996Thr)
c.2885A>C (p.Asn962Thr)
c.2516A>C (p.Asn839Thr)
5g.112838959A>GCA16028705APCc.3030A>G (n.3030A>G)
c.3419A>G (p.Asn1140Ser)
c.*3371A>G (n.*3371A>G)
c.3311A>G (p.Asn1104Ser)
c.3365A>G (p.Asn1122Ser)
c.1718A>G
c.*2687A>G (n.*2687A>G)
c.230+9987A>G
c.3395A>G (p.Asn1132Ser)
c.3290A>G (p.Asn1097Ser)
c.3281A>G (p.Asn1094Ser)
c.3242A>G (p.Asn1081Ser)
c.3188A>G (p.Asn1063Ser)
c.3092A>G (p.Asn1031Ser)
c.3062A>G (p.Asn1021Ser)
c.2987A>G (p.Asn996Ser)
c.2885A>G (p.Asn962Ser)
c.2516A>G (p.Asn839Ser)
 ClinVar dbSNP gnomAD v4
5g.112838959A>TCA16028706APCc.3030A>T (n.3030A>T)
c.3419A>T (p.Asn1140Ile)
c.*3371A>T (n.*3371A>T)
c.3311A>T (p.Asn1104Ile)
c.3365A>T (p.Asn1122Ile)
c.1718A>T
c.*2687A>T (n.*2687A>T)
c.230+9987A>T
c.3395A>T (p.Asn1132Ile)
c.3290A>T (p.Asn1097Ile)
c.3281A>T (p.Asn1094Ile)
c.3242A>T (p.Asn1081Ile)
c.3188A>T (p.Asn1063Ile)
c.3092A>T (p.Asn1031Ile)
c.3062A>T (p.Asn1021Ile)
c.2987A>T (p.Asn996Ile)
c.2885A>T (p.Asn962Ile)
c.2516A>T (p.Asn839Ile)
 dbSNP
5g.112838960T>ACA16028707APCc.3031T>A (n.3031T>A)
c.3420T>A (p.Asn1140Lys)
c.*3372T>A (n.*3372T>A)
c.3312T>A (p.Asn1104Lys)
c.3366T>A (p.Asn1122Lys)
c.1719T>A
c.*2688T>A (n.*2688T>A)
c.230+9988T>A
c.3396T>A (p.Asn1132Lys)
c.3291T>A (p.Asn1097Lys)
c.3282T>A (p.Asn1094Lys)
c.3243T>A (p.Asn1081Lys)
c.3189T>A (p.Asn1063Lys)
c.3093T>A (p.Asn1031Lys)
c.3063T>A (p.Asn1021Lys)
c.2988T>A (p.Asn996Lys)
c.2886T>A (p.Asn962Lys)
c.2517T>A (p.Asn839Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.112838960T>CCA445963762APCc.3031T>C (n.3031T>C)
c.3420T>C (p.Asn1140=)
c.*3372T>C (n.*3372T>C)
c.3312T>C (p.Asn1104=)
c.3366T>C (p.Asn1122=)
c.1719T>C
c.*2688T>C (n.*2688T>C)
c.230+9988T>C
c.3396T>C (p.Asn1132=)
c.3291T>C (p.Asn1097=)
c.3282T>C (p.Asn1094=)
c.3243T>C (p.Asn1081=)
c.3189T>C (p.Asn1063=)
c.3093T>C (p.Asn1031=)
c.3063T>C (p.Asn1021=)
c.2988T>C (p.Asn996=)
c.2886T>C (p.Asn962=)
c.2517T>C (p.Asn839=)
 ClinVar dbSNP
5g.112838960T>GCA16028708APCc.3031T>G (n.3031T>G)
c.3420T>G (p.Asn1140Lys)
c.*3372T>G (n.*3372T>G)
c.3312T>G (p.Asn1104Lys)
c.3366T>G (p.Asn1122Lys)
c.1719T>G
c.*2688T>G (n.*2688T>G)
c.230+9988T>G
c.3396T>G (p.Asn1132Lys)
c.3291T>G (p.Asn1097Lys)
c.3282T>G (p.Asn1094Lys)
c.3243T>G (p.Asn1081Lys)
c.3189T>G (p.Asn1063Lys)
c.3093T>G (p.Asn1031Lys)
c.3063T>G (p.Asn1021Lys)
c.2988T>G (p.Asn996Lys)
c.2886T>G (p.Asn962Lys)
c.2517T>G (p.Asn839Lys)
5g.112838960T=CA1573487902APCc.3031T= (n.3031T=)
c.3420T= (p.Asn1140=)
c.*3372T= (n.*3372T=)
c.3312T= (p.Asn1104=)
c.3366T= (p.Asn1122=)
c.1719T=
c.*2688T= (n.*2688T=)
c.230+9988T=
c.3396T= (p.Asn1132=)
c.3291T= (p.Asn1097=)
c.3282T= (p.Asn1094=)
c.3243T= (p.Asn1081=)
c.3189T= (p.Asn1063=)
c.3093T= (p.Asn1031=)
c.3063T= (p.Asn1021=)
c.2988T= (p.Asn996=)
c.2886T= (p.Asn962=)
c.2517T= (p.Asn839=)
5g.112838961C>ACA16028709APCc.3032C>A (n.3032C>A)
c.3421C>A (p.Gln1141Lys)
c.*3373C>A (n.*3373C>A)
c.3313C>A (p.Gln1105Lys)
c.3367C>A (p.Gln1123Lys)
c.1720C>A
c.*2689C>A (n.*2689C>A)
c.230+9989C>A
c.3397C>A (p.Gln1133Lys)
c.3292C>A (p.Gln1098Lys)
c.3283C>A (p.Gln1095Lys)
c.3244C>A (p.Gln1082Lys)
c.3190C>A (p.Gln1064Lys)
c.3094C>A (p.Gln1032Lys)
c.3064C>A (p.Gln1022Lys)
c.2989C>A (p.Gln997Lys)
c.2887C>A (p.Gln963Lys)
c.2518C>A (p.Gln840Lys)
 ClinVar dbSNP
5g.112838961C=CA1573487906APCc.3032C= (n.3032C=)
c.3421C= (p.Gln1141=)
c.*3373C= (n.*3373C=)
c.3313C= (p.Gln1105=)
c.3367C= (p.Gln1123=)
c.1720C=
c.*2689C= (n.*2689C=)
c.230+9989C=
c.3397C= (p.Gln1133=)
c.3292C= (p.Gln1098=)
c.3283C= (p.Gln1095=)
c.3244C= (p.Gln1082=)
c.3190C= (p.Gln1064=)
c.3094C= (p.Gln1032=)
c.3064C= (p.Gln1022=)
c.2989C= (p.Gln997=)
c.2887C= (p.Gln963=)
c.2518C= (p.Gln840=)
5g.112838961C>GCA16028710APCc.3032C>G (n.3032C>G)
c.3421C>G (p.Gln1141Glu)
c.*3373C>G (n.*3373C>G)
c.3313C>G (p.Gln1105Glu)
c.3367C>G (p.Gln1123Glu)
c.1720C>G
c.*2689C>G (n.*2689C>G)
c.230+9989C>G
c.3397C>G (p.Gln1133Glu)
c.3292C>G (p.Gln1098Glu)
c.3283C>G (p.Gln1095Glu)
c.3244C>G (p.Gln1082Glu)
c.3190C>G (p.Gln1064Glu)
c.3094C>G (p.Gln1032Glu)
c.3064C>G (p.Gln1022Glu)
c.2989C>G (p.Gln997Glu)
c.2887C>G (p.Gln963Glu)
c.2518C>G (p.Gln840Glu)
 ClinVar
5g.112838961C>TCA16028711APCc.3032C>T (n.3032C>T)
c.3421C>T (p.Gln1141Ter)
c.*3373C>T (n.*3373C>T)
c.3313C>T (p.Gln1105Ter)
c.3367C>T (p.Gln1123Ter)
c.1720C>T
c.*2689C>T (n.*2689C>T)
c.230+9989C>T
c.3397C>T (p.Gln1133Ter)
c.3292C>T (p.Gln1098Ter)
c.3283C>T (p.Gln1095Ter)
c.3244C>T (p.Gln1082Ter)
c.3190C>T (p.Gln1064Ter)
c.3094C>T (p.Gln1032Ter)
c.3064C>T (p.Gln1022Ter)
c.2989C>T (p.Gln997Ter)
c.2887C>T (p.Gln963Ter)
c.2518C>T (p.Gln840Ter)
 ClinVar dbSNP COSMIC
5g.112838962A=CA1573487912APCc.3033A= (n.3033A=)
c.3422A= (p.Gln1141=)
c.*3374A= (n.*3374A=)
c.3314A= (p.Gln1105=)
c.3368A= (p.Gln1123=)
c.1721A=
c.*2690A= (n.*2690A=)
c.230+9990A=
c.3398A= (p.Gln1133=)
c.3293A= (p.Gln1098=)
c.3284A= (p.Gln1095=)
c.3245A= (p.Gln1082=)
c.3191A= (p.Gln1064=)
c.3095A= (p.Gln1032=)
c.3065A= (p.Gln1022=)
c.2990A= (p.Gln997=)
c.2888A= (p.Gln963=)
c.2519A= (p.Gln840=)
5g.112838962A>CCA008326APCc.3033A>C (n.3033A>C)
c.3422A>C (p.Gln1141Pro)
c.*3374A>C (n.*3374A>C)
c.3314A>C (p.Gln1105Pro)
c.3368A>C (p.Gln1123Pro)
c.1721A>C
c.*2690A>C (n.*2690A>C)
c.230+9990A>C
c.3398A>C (p.Gln1133Pro)
c.3293A>C (p.Gln1098Pro)
c.3284A>C (p.Gln1095Pro)
c.3245A>C (p.Gln1082Pro)
c.3191A>C (p.Gln1064Pro)
c.3095A>C (p.Gln1032Pro)
c.3065A>C (p.Gln1022Pro)
c.2990A>C (p.Gln997Pro)
c.2888A>C (p.Gln963Pro)
c.2519A>C (p.Gln840Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112838962A>GCA16028712APCc.3033A>G (n.3033A>G)
c.3422A>G (p.Gln1141Arg)
c.*3374A>G (n.*3374A>G)
c.3314A>G (p.Gln1105Arg)
c.3368A>G (p.Gln1123Arg)
c.1721A>G
c.*2690A>G (n.*2690A>G)
c.230+9990A>G
c.3398A>G (p.Gln1133Arg)
c.3293A>G (p.Gln1098Arg)
c.3284A>G (p.Gln1095Arg)
c.3245A>G (p.Gln1082Arg)
c.3191A>G (p.Gln1064Arg)
c.3095A>G (p.Gln1032Arg)
c.3065A>G (p.Gln1022Arg)
c.2990A>G (p.Gln997Arg)
c.2888A>G (p.Gln963Arg)
c.2519A>G (p.Gln840Arg)
 ClinVar dbSNP gnomAD v4
5g.112838962A>TCA16028713APCc.3033A>T (n.3033A>T)
c.3422A>T (p.Gln1141Leu)
c.*3374A>T (n.*3374A>T)
c.3314A>T (p.Gln1105Leu)
c.3368A>T (p.Gln1123Leu)
c.1721A>T
c.*2690A>T (n.*2690A>T)
c.230+9990A>T
c.3398A>T (p.Gln1133Leu)
c.3293A>T (p.Gln1098Leu)
c.3284A>T (p.Gln1095Leu)
c.3245A>T (p.Gln1082Leu)
c.3191A>T (p.Gln1064Leu)
c.3095A>T (p.Gln1032Leu)
c.3065A>T (p.Gln1022Leu)
c.2990A>T (p.Gln997Leu)
c.2888A>T (p.Gln963Leu)
c.2519A>T (p.Gln840Leu)
 dbSNP
5g.112838965delCA658760912APCc.3036del (n.3036del)
c.3425del (p.Asn1142MetfsTer2)
c.*3377del (n.*3377del)
c.3317del (p.Asn1106MetfsTer2)
c.3371del (p.Asn1124MetfsTer2)
c.1724del
c.*2693del (n.*2693del)
c.230+9993del
c.3401del (p.Asn1134MetfsTer2)
c.3296del (p.Asn1099MetfsTer2)
c.3287del (p.Asn1096MetfsTer2)
c.3248del (p.Asn1083MetfsTer2)
c.3194del (p.Asn1065MetfsTer2)
c.3098del (p.Asn1033MetfsTer2)
c.3068del (p.Asn1023MetfsTer2)
c.2993del (p.Asn998MetfsTer2)
c.2891del (p.Asn964MetfsTer2)
c.2522del (p.Asn841MetfsTer2)
5g.112838963A>CCA16028714APCc.3034A>C (n.3034A>C)
c.3423A>C (p.Gln1141His)
c.*3375A>C (n.*3375A>C)
c.3315A>C (p.Gln1105His)
c.3369A>C (p.Gln1123His)
c.1722A>C
c.*2691A>C (n.*2691A>C)
c.230+9991A>C
c.3399A>C (p.Gln1133His)
c.3294A>C (p.Gln1098His)
c.3285A>C (p.Gln1095His)
c.3246A>C (p.Gln1082His)
c.3192A>C (p.Gln1064His)
c.3096A>C (p.Gln1032His)
c.3066A>C (p.Gln1022His)
c.2991A>C (p.Gln997His)
c.2889A>C (p.Gln963His)
c.2520A>C (p.Gln840His)
5g.112838963A>GCA445963763APCc.3034A>G (n.3034A>G)
c.3423A>G (p.Gln1141=)
c.*3375A>G (n.*3375A>G)
c.3315A>G (p.Gln1105=)
c.3369A>G (p.Gln1123=)
c.1722A>G
c.*2691A>G (n.*2691A>G)
c.230+9991A>G
c.3399A>G (p.Gln1133=)
c.3294A>G (p.Gln1098=)
c.3285A>G (p.Gln1095=)
c.3246A>G (p.Gln1082=)
c.3192A>G (p.Gln1064=)
c.3096A>G (p.Gln1032=)
c.3066A>G (p.Gln1022=)
c.2991A>G (p.Gln997=)
c.2889A>G (p.Gln963=)
c.2520A>G (p.Gln840=)
 dbSNP
5g.112838963A>TCA16028715APCc.3034A>T (n.3034A>T)
c.3423A>T (p.Gln1141His)
c.*3375A>T (n.*3375A>T)
c.3315A>T (p.Gln1105His)
c.3369A>T (p.Gln1123His)
c.1722A>T
c.*2691A>T (n.*2691A>T)
c.230+9991A>T
c.3399A>T (p.Gln1133His)
c.3294A>T (p.Gln1098His)
c.3285A>T (p.Gln1095His)
c.3246A>T (p.Gln1082His)
c.3192A>T (p.Gln1064His)
c.3096A>T (p.Gln1032His)
c.3066A>T (p.Gln1022His)
c.2991A>T (p.Gln997His)
c.2889A>T (p.Gln963His)
c.2520A>T (p.Gln840His)
 dbSNP
5g.112838964A>CCA16028716APCc.3035A>C (n.3035A>C)
c.3424A>C (p.Asn1142His)
c.*3376A>C (n.*3376A>C)
c.3316A>C (p.Asn1106His)
c.3370A>C (p.Asn1124His)
c.1723A>C
c.*2692A>C (n.*2692A>C)
c.230+9992A>C
c.3400A>C (p.Asn1134His)
c.3295A>C (p.Asn1099His)
c.3286A>C (p.Asn1096His)
c.3247A>C (p.Asn1083His)
c.3193A>C (p.Asn1065His)
c.3097A>C (p.Asn1033His)
c.3067A>C (p.Asn1023His)
c.2992A>C (p.Asn998His)
c.2890A>C (p.Asn964His)
c.2521A>C (p.Asn841His)
5g.112838964A>GCA16028717APCc.3035A>G (n.3035A>G)
c.3424A>G (p.Asn1142Asp)
c.*3376A>G (n.*3376A>G)
c.3316A>G (p.Asn1106Asp)
c.3370A>G (p.Asn1124Asp)
c.1723A>G
c.*2692A>G (n.*2692A>G)
c.230+9992A>G
c.3400A>G (p.Asn1134Asp)
c.3295A>G (p.Asn1099Asp)
c.3286A>G (p.Asn1096Asp)
c.3247A>G (p.Asn1083Asp)
c.3193A>G (p.Asn1065Asp)
c.3097A>G (p.Asn1033Asp)
c.3067A>G (p.Asn1023Asp)
c.2992A>G (p.Asn998Asp)
c.2890A>G (p.Asn964Asp)
c.2521A>G (p.Asn841Asp)
5g.112838964A>TCA16028718APCc.3035A>T (n.3035A>T)
c.3424A>T (p.Asn1142Tyr)
c.*3376A>T (n.*3376A>T)
c.3316A>T (p.Asn1106Tyr)
c.3370A>T (p.Asn1124Tyr)
c.1723A>T
c.*2692A>T (n.*2692A>T)
c.230+9992A>T
c.3400A>T (p.Asn1134Tyr)
c.3295A>T (p.Asn1099Tyr)
c.3286A>T (p.Asn1096Tyr)
c.3247A>T (p.Asn1083Tyr)
c.3193A>T (p.Asn1065Tyr)
c.3097A>T (p.Asn1033Tyr)
c.3067A>T (p.Asn1023Tyr)
c.2992A>T (p.Asn998Tyr)
c.2890A>T (p.Asn964Tyr)
c.2521A>T (p.Asn841Tyr)
 dbSNP
5g.112838965A=CA1573487929APCc.3036A= (n.3036A=)
c.3425A= (p.Asn1142=)
c.*3377A= (n.*3377A=)
c.3317A= (p.Asn1106=)
c.3371A= (p.Asn1124=)
c.1724A=
c.*2693A= (n.*2693A=)
c.230+9993A=
c.3401A= (p.Asn1134=)
c.3296A= (p.Asn1099=)
c.3287A= (p.Asn1096=)
c.3248A= (p.Asn1083=)
c.3194A= (p.Asn1065=)
c.3098A= (p.Asn1033=)
c.3068A= (p.Asn1023=)
c.2993A= (p.Asn998=)
c.2891A= (p.Asn964=)
c.2522A= (p.Asn841=)
5g.112838965A>CCA16028719APCc.3036A>C (n.3036A>C)
c.3425A>C (p.Asn1142Thr)
c.*3377A>C (n.*3377A>C)
c.3317A>C (p.Asn1106Thr)
c.3371A>C (p.Asn1124Thr)
c.1724A>C
c.*2693A>C (n.*2693A>C)
c.230+9993A>C
c.3401A>C (p.Asn1134Thr)
c.3296A>C (p.Asn1099Thr)
c.3287A>C (p.Asn1096Thr)
c.3248A>C (p.Asn1083Thr)
c.3194A>C (p.Asn1065Thr)
c.3098A>C (p.Asn1033Thr)
c.3068A>C (p.Asn1023Thr)
c.2993A>C (p.Asn998Thr)
c.2891A>C (p.Asn964Thr)
c.2522A>C (p.Asn841Thr)
5g.112838965A>GCA16028720APCc.3036A>G (n.3036A>G)
c.3425A>G (p.Asn1142Ser)
c.*3377A>G (n.*3377A>G)
c.3317A>G (p.Asn1106Ser)
c.3371A>G (p.Asn1124Ser)
c.1724A>G
c.*2693A>G (n.*2693A>G)
c.230+9993A>G
c.3401A>G (p.Asn1134Ser)
c.3296A>G (p.Asn1099Ser)
c.3287A>G (p.Asn1096Ser)
c.3248A>G (p.Asn1083Ser)
c.3194A>G (p.Asn1065Ser)
c.3098A>G (p.Asn1033Ser)
c.3068A>G (p.Asn1023Ser)
c.2993A>G (p.Asn998Ser)
c.2891A>G (p.Asn964Ser)
c.2522A>G (p.Asn841Ser)
 ClinVar dbSNP
5g.112838965A>TCA16028721APCc.3036A>T (n.3036A>T)
c.3425A>T (p.Asn1142Ile)
c.*3377A>T (n.*3377A>T)
c.3317A>T (p.Asn1106Ile)
c.3371A>T (p.Asn1124Ile)
c.1724A>T
c.*2693A>T (n.*2693A>T)
c.230+9993A>T
c.3401A>T (p.Asn1134Ile)
c.3296A>T (p.Asn1099Ile)
c.3287A>T (p.Asn1096Ile)
c.3248A>T (p.Asn1083Ile)
c.3194A>T (p.Asn1065Ile)
c.3098A>T (p.Asn1033Ile)
c.3068A>T (p.Asn1023Ile)
c.2993A>T (p.Asn998Ile)
c.2891A>T (p.Asn964Ile)
c.2522A>T (p.Asn841Ile)
 dbSNP
5g.112838966T>ACA16028722APCc.3037T>A (n.3037T>A)
c.3426T>A (p.Asn1142Lys)
c.*3378T>A (n.*3378T>A)
c.3318T>A (p.Asn1106Lys)
c.3372T>A (p.Asn1124Lys)
c.1725T>A
c.*2694T>A (n.*2694T>A)
c.230+9994T>A
c.3402T>A (p.Asn1134Lys)
c.3297T>A (p.Asn1099Lys)
c.3288T>A (p.Asn1096Lys)
c.3249T>A (p.Asn1083Lys)
c.3195T>A (p.Asn1065Lys)
c.3099T>A (p.Asn1033Lys)
c.3069T>A (p.Asn1023Lys)
c.2994T>A (p.Asn998Lys)
c.2892T>A (p.Asn964Lys)
c.2523T>A (p.Asn841Lys)
 dbSNP
5g.112838966T>CCA445963764APCc.3037T>C (n.3037T>C)
c.3426T>C (p.Asn1142=)
c.*3378T>C (n.*3378T>C)
c.3318T>C (p.Asn1106=)
c.3372T>C (p.Asn1124=)
c.1725T>C
c.*2694T>C (n.*2694T>C)
c.230+9994T>C
c.3402T>C (p.Asn1134=)
c.3297T>C (p.Asn1099=)
c.3288T>C (p.Asn1096=)
c.3249T>C (p.Asn1083=)
c.3195T>C (p.Asn1065=)
c.3099T>C (p.Asn1033=)
c.3069T>C (p.Asn1023=)
c.2994T>C (p.Asn998=)
c.2892T>C (p.Asn964=)
c.2523T>C (p.Asn841=)
 ClinVar dbSNP gnomAD v2
5g.112838966T>GCA16028723APCc.3037T>G (n.3037T>G)
c.3426T>G (p.Asn1142Lys)
c.*3378T>G (n.*3378T>G)
c.3318T>G (p.Asn1106Lys)
c.3372T>G (p.Asn1124Lys)
c.1725T>G
c.*2694T>G (n.*2694T>G)
c.230+9994T>G
c.3402T>G (p.Asn1134Lys)
c.3297T>G (p.Asn1099Lys)
c.3288T>G (p.Asn1096Lys)
c.3249T>G (p.Asn1083Lys)
c.3195T>G (p.Asn1065Lys)
c.3099T>G (p.Asn1033Lys)
c.3069T>G (p.Asn1023Lys)
c.2994T>G (p.Asn998Lys)
c.2892T>G (p.Asn964Lys)
c.2523T>G (p.Asn841Lys)
5g.112838966T=CA1573487935APCc.3037T= (n.3037T=)
c.3426T= (p.Asn1142=)
c.*3378T= (n.*3378T=)
c.3318T= (p.Asn1106=)
c.3372T= (p.Asn1124=)
c.1725T=
c.*2694T= (n.*2694T=)
c.230+9994T=
c.3402T= (p.Asn1134=)
c.3297T= (p.Asn1099=)
c.3288T= (p.Asn1096=)
c.3249T= (p.Asn1083=)
c.3195T= (p.Asn1065=)
c.3099T= (p.Asn1033=)
c.3069T= (p.Asn1023=)
c.2994T= (p.Asn998=)
c.2892T= (p.Asn964=)
c.2523T= (p.Asn841=)
5g.112838966dupCA2695204930APCc.3037dup (n.3037dup)
c.3426dup (p.Val1143CysfsTer10)
c.*3378dup (n.*3378dup)
c.3318dup (p.Val1107CysfsTer10)
c.3372dup (p.Val1125CysfsTer10)
c.1725dup
c.*2694dup (n.*2694dup)
c.230+9994dup
c.3402dup (p.Val1135CysfsTer10)
c.3297dup (p.Val1100CysfsTer10)
c.3288dup (p.Val1097CysfsTer10)
c.3249dup (p.Val1084CysfsTer10)
c.3195dup (p.Val1066CysfsTer10)
c.3099dup (p.Val1034CysfsTer10)
c.3069dup (p.Val1024CysfsTer10)
c.2994dup (p.Val999CysfsTer10)
c.2892dup (p.Val965CysfsTer10)
c.2523dup (p.Val842CysfsTer10)
5g.112838967G>ACA16028724APCc.3038G>A (n.3038G>A)
c.3427G>A (p.Val1143Ile)
c.*3379G>A (n.*3379G>A)
c.3319G>A (p.Val1107Ile)
c.3373G>A (p.Val1125Ile)
c.1726G>A
c.*2695G>A (n.*2695G>A)
c.230+9995G>A
c.3403G>A (p.Val1135Ile)
c.3298G>A (p.Val1100Ile)
c.3289G>A (p.Val1097Ile)
c.3250G>A (p.Val1084Ile)
c.3196G>A (p.Val1066Ile)
c.3100G>A (p.Val1034Ile)
c.3070G>A (p.Val1024Ile)
c.2995G>A (p.Val999Ile)
c.2893G>A (p.Val965Ile)
c.2524G>A (p.Val842Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112838967G>CCA16028725APCc.3038G>C (n.3038G>C)
c.3427G>C (p.Val1143Leu)
c.*3379G>C (n.*3379G>C)
c.3319G>C (p.Val1107Leu)
c.3373G>C (p.Val1125Leu)
c.1726G>C
c.*2695G>C (n.*2695G>C)
c.230+9995G>C
c.3403G>C (p.Val1135Leu)
c.3298G>C (p.Val1100Leu)
c.3289G>C (p.Val1097Leu)
c.3250G>C (p.Val1084Leu)
c.3196G>C (p.Val1066Leu)
c.3100G>C (p.Val1034Leu)
c.3070G>C (p.Val1024Leu)
c.2995G>C (p.Val999Leu)
c.2893G>C (p.Val965Leu)
c.2524G>C (p.Val842Leu)
 ClinVar gnomAD v4 COSMIC
5g.112838967G=CA1573487951APCc.3038G= (n.3038G=)
c.3427G= (p.Val1143=)
c.*3379G= (n.*3379G=)
c.3319G= (p.Val1107=)
c.3373G= (p.Val1125=)
c.1726G=
c.*2695G= (n.*2695G=)
c.230+9995G=
c.3403G= (p.Val1135=)
c.3298G= (p.Val1100=)
c.3289G= (p.Val1097=)
c.3250G= (p.Val1084=)
c.3196G= (p.Val1066=)
c.3100G= (p.Val1034=)
c.3070G= (p.Val1024=)
c.2995G= (p.Val999=)
c.2893G= (p.Val965=)
c.2524G= (p.Val842=)
5g.112838967G>TCA16028726APCc.3038G>T (n.3038G>T)
c.3427G>T (p.Val1143Leu)
c.*3379G>T (n.*3379G>T)
c.3319G>T (p.Val1107Leu)
c.3373G>T (p.Val1125Leu)
c.1726G>T
c.*2695G>T (n.*2695G>T)
c.230+9995G>T
c.3403G>T (p.Val1135Leu)
c.3298G>T (p.Val1100Leu)
c.3289G>T (p.Val1097Leu)
c.3250G>T (p.Val1084Leu)
c.3196G>T (p.Val1066Leu)
c.3100G>T (p.Val1034Leu)
c.3070G>T (p.Val1024Leu)
c.2995G>T (p.Val999Leu)
c.2893G>T (p.Val965Leu)
c.2524G>T (p.Val842Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838968T>ACA16028727APCc.3039T>A (n.3039T>A)
c.3428T>A (p.Val1143Glu)
c.*3380T>A (n.*3380T>A)
c.3320T>A (p.Val1107Glu)
c.3374T>A (p.Val1125Glu)
c.1727T>A
c.*2696T>A (n.*2696T>A)
c.230+9996T>A
c.3404T>A (p.Val1135Glu)
c.3299T>A (p.Val1100Glu)
c.3290T>A (p.Val1097Glu)
c.3251T>A (p.Val1084Glu)
c.3197T>A (p.Val1066Glu)
c.3101T>A (p.Val1034Glu)
c.3071T>A (p.Val1024Glu)
c.2996T>A (p.Val999Glu)
c.2894T>A (p.Val965Glu)
c.2525T>A (p.Val842Glu)
5g.112838968T>CCA008333APCc.3039T>C (n.3039T>C)
c.3428T>C (p.Val1143Ala)
c.*3380T>C (n.*3380T>C)
c.3320T>C (p.Val1107Ala)
c.3374T>C (p.Val1125Ala)
c.1727T>C
c.*2696T>C (n.*2696T>C)
c.230+9996T>C
c.3404T>C (p.Val1135Ala)
c.3299T>C (p.Val1100Ala)
c.3290T>C (p.Val1097Ala)
c.3251T>C (p.Val1084Ala)
c.3197T>C (p.Val1066Ala)
c.3101T>C (p.Val1034Ala)
c.3071T>C (p.Val1024Ala)
c.2996T>C (p.Val999Ala)
c.2894T>C (p.Val965Ala)
c.2525T>C (p.Val842Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838968T>GCA16028728APCc.3039T>G (n.3039T>G)
c.3428T>G (p.Val1143Gly)
c.*3380T>G (n.*3380T>G)
c.3320T>G (p.Val1107Gly)
c.3374T>G (p.Val1125Gly)
c.1727T>G
c.*2696T>G (n.*2696T>G)
c.230+9996T>G
c.3404T>G (p.Val1135Gly)
c.3299T>G (p.Val1100Gly)
c.3290T>G (p.Val1097Gly)
c.3251T>G (p.Val1084Gly)
c.3197T>G (p.Val1066Gly)
c.3101T>G (p.Val1034Gly)
c.3071T>G (p.Val1024Gly)
c.2996T>G (p.Val999Gly)
c.2894T>G (p.Val965Gly)
c.2525T>G (p.Val842Gly)
 dbSNP gnomAD v4
5g.112838968T=CA1573487964APCc.3039T= (n.3039T=)
c.3428T= (p.Val1143=)
c.*3380T= (n.*3380T=)
c.3320T= (p.Val1107=)
c.3374T= (p.Val1125=)
c.1727T=
c.*2696T= (n.*2696T=)
c.230+9996T=
c.3404T= (p.Val1135=)
c.3299T= (p.Val1100=)
c.3290T= (p.Val1097=)
c.3251T= (p.Val1084=)
c.3197T= (p.Val1066=)
c.3101T= (p.Val1034=)
c.3071T= (p.Val1024=)
c.2996T= (p.Val999=)
c.2894T= (p.Val965=)
c.2525T= (p.Val842=)
5g.112838968dupCA891842607APCc.3039dup (n.3039dup)
c.3428dup (p.Ser1144LysfsTer9)
c.*3380dup (n.*3380dup)
c.3320dup (p.Ser1108LysfsTer9)
c.3374dup (p.Ser1126LysfsTer9)
c.1727dup
c.*2696dup (n.*2696dup)
c.230+9996dup
c.3404dup (p.Ser1136LysfsTer9)
c.3299dup (p.Ser1101LysfsTer9)
c.3290dup (p.Ser1098LysfsTer9)
c.3251dup (p.Ser1085LysfsTer9)
c.3197dup (p.Ser1067LysfsTer9)
c.3101dup (p.Ser1035LysfsTer9)
c.3071dup (p.Ser1025LysfsTer9)
c.2996dup (p.Ser1000LysfsTer9)
c.2894dup (p.Ser966LysfsTer9)
c.2525dup (p.Ser843LysfsTer9)
 ClinVar dbSNP
5g.112838969A>CCA445963767APCc.3040A>C (n.3040A>C)
c.3429A>C (p.Val1143=)
c.*3381A>C (n.*3381A>C)
c.3321A>C (p.Val1107=)
c.3375A>C (p.Val1125=)
c.1728A>C
c.*2697A>C (n.*2697A>C)
c.230+9997A>C
c.3405A>C (p.Val1135=)
c.3300A>C (p.Val1100=)
c.3291A>C (p.Val1097=)
c.3252A>C (p.Val1084=)
c.3198A>C (p.Val1066=)
c.3102A>C (p.Val1034=)
c.3072A>C (p.Val1024=)
c.2997A>C (p.Val999=)
c.2895A>C (p.Val965=)
c.2526A>C (p.Val842=)
5g.112838969A>GCA445963765APCc.3040A>G (n.3040A>G)
c.3429A>G (p.Val1143=)
c.*3381A>G (n.*3381A>G)
c.3321A>G (p.Val1107=)
c.3375A>G (p.Val1125=)
c.1728A>G
c.*2697A>G (n.*2697A>G)
c.230+9997A>G
c.3405A>G (p.Val1135=)
c.3300A>G (p.Val1100=)
c.3291A>G (p.Val1097=)
c.3252A>G (p.Val1084=)
c.3198A>G (p.Val1066=)
c.3102A>G (p.Val1034=)
c.3072A>G (p.Val1024=)
c.2997A>G (p.Val999=)
c.2895A>G (p.Val965=)
c.2526A>G (p.Val842=)
 dbSNP
5g.112838969A>TCA445963766APCc.3040A>T (n.3040A>T)
c.3429A>T (p.Val1143=)
c.*3381A>T (n.*3381A>T)
c.3321A>T (p.Val1107=)
c.3375A>T (p.Val1125=)
c.1728A>T
c.*2697A>T (n.*2697A>T)
c.230+9997A>T
c.3405A>T (p.Val1135=)
c.3300A>T (p.Val1100=)
c.3291A>T (p.Val1097=)
c.3252A>T (p.Val1084=)
c.3198A>T (p.Val1066=)
c.3102A>T (p.Val1034=)
c.3072A>T (p.Val1024=)
c.2997A>T (p.Val999=)
c.2895A>T (p.Val965=)
c.2526A>T (p.Val842=)
 dbSNP
5g.112838970A=CA1573487981APCc.3041A= (n.3041A=)
c.3430A= (p.Ser1144=)
c.*3382A= (n.*3382A=)
c.3322A= (p.Ser1108=)
c.3376A= (p.Ser1126=)
c.1729A=
c.*2698A= (n.*2698A=)
c.230+9998A=
c.3406A= (p.Ser1136=)
c.3301A= (p.Ser1101=)
c.3292A= (p.Ser1098=)
c.3253A= (p.Ser1085=)
c.3199A= (p.Ser1067=)
c.3103A= (p.Ser1035=)
c.3073A= (p.Ser1025=)
c.2998A= (p.Ser1000=)
c.2896A= (p.Ser966=)
c.2527A= (p.Ser843=)
5g.112838970A>CCA16028729APCc.3041A>C (n.3041A>C)
c.3430A>C (p.Ser1144Arg)
c.*3382A>C (n.*3382A>C)
c.3322A>C (p.Ser1108Arg)
c.3376A>C (p.Ser1126Arg)
c.1729A>C
c.*2698A>C (n.*2698A>C)
c.230+9998A>C
c.3406A>C (p.Ser1136Arg)
c.3301A>C (p.Ser1101Arg)
c.3292A>C (p.Ser1098Arg)
c.3253A>C (p.Ser1085Arg)
c.3199A>C (p.Ser1067Arg)
c.3103A>C (p.Ser1035Arg)
c.3073A>C (p.Ser1025Arg)
c.2998A>C (p.Ser1000Arg)
c.2896A>C (p.Ser966Arg)
c.2527A>C (p.Ser843Arg)
5g.112838970A>GCA16028730APCc.3041A>G (n.3041A>G)
c.3430A>G (p.Ser1144Gly)
c.*3382A>G (n.*3382A>G)
c.3322A>G (p.Ser1108Gly)
c.3376A>G (p.Ser1126Gly)
c.1729A>G
c.*2698A>G (n.*2698A>G)
c.230+9998A>G
c.3406A>G (p.Ser1136Gly)
c.3301A>G (p.Ser1101Gly)
c.3292A>G (p.Ser1098Gly)
c.3253A>G (p.Ser1085Gly)
c.3199A>G (p.Ser1067Gly)
c.3103A>G (p.Ser1035Gly)
c.3073A>G (p.Ser1025Gly)
c.2998A>G (p.Ser1000Gly)
c.2896A>G (p.Ser966Gly)
c.2527A>G (p.Ser843Gly)
 ClinVar dbSNP
5g.112838970A>TCA16028731APCc.3041A>T (n.3041A>T)
c.3430A>T (p.Ser1144Cys)
c.*3382A>T (n.*3382A>T)
c.3322A>T (p.Ser1108Cys)
c.3376A>T (p.Ser1126Cys)
c.1729A>T
c.*2698A>T (n.*2698A>T)
c.230+9998A>T
c.3406A>T (p.Ser1136Cys)
c.3301A>T (p.Ser1101Cys)
c.3292A>T (p.Ser1098Cys)
c.3253A>T (p.Ser1085Cys)
c.3199A>T (p.Ser1067Cys)
c.3103A>T (p.Ser1035Cys)
c.3073A>T (p.Ser1025Cys)
c.2998A>T (p.Ser1000Cys)
c.2896A>T (p.Ser966Cys)
c.2527A>T (p.Ser843Cys)
 ClinVar dbSNP gnomAD v4
5g.112838971G>ACA16028732APCc.3042G>A (n.3042G>A)
c.3431G>A (p.Ser1144Asn)
c.*3383G>A (n.*3383G>A)
c.3323G>A (p.Ser1108Asn)
c.3377G>A (p.Ser1126Asn)
c.1730G>A
c.*2699G>A (n.*2699G>A)
c.230+9999G>A
c.3407G>A (p.Ser1136Asn)
c.3302G>A (p.Ser1101Asn)
c.3293G>A (p.Ser1098Asn)
c.3254G>A (p.Ser1085Asn)
c.3200G>A (p.Ser1067Asn)
c.3104G>A (p.Ser1035Asn)
c.3074G>A (p.Ser1025Asn)
c.2999G>A (p.Ser1000Asn)
c.2897G>A (p.Ser966Asn)
c.2528G>A (p.Ser843Asn)
 ClinVar dbSNP gnomAD v4
5g.112838971G>CCA16028733APCc.3042G>C (n.3042G>C)
c.3431G>C (p.Ser1144Thr)
c.*3383G>C (n.*3383G>C)
c.3323G>C (p.Ser1108Thr)
c.3377G>C (p.Ser1126Thr)
c.1730G>C
c.*2699G>C (n.*2699G>C)
c.230+9999G>C
c.3407G>C (p.Ser1136Thr)
c.3302G>C (p.Ser1101Thr)
c.3293G>C (p.Ser1098Thr)
c.3254G>C (p.Ser1085Thr)
c.3200G>C (p.Ser1067Thr)
c.3104G>C (p.Ser1035Thr)
c.3074G>C (p.Ser1025Thr)
c.2999G>C (p.Ser1000Thr)
c.2897G>C (p.Ser966Thr)
c.2528G>C (p.Ser843Thr)
5g.112838971G=CA1573487997APCc.3042G= (n.3042G=)
c.3431G= (p.Ser1144=)
c.*3383G= (n.*3383G=)
c.3323G= (p.Ser1108=)
c.3377G= (p.Ser1126=)
c.1730G=
c.*2699G= (n.*2699G=)
c.230+9999G=
c.3407G= (p.Ser1136=)
c.3302G= (p.Ser1101=)
c.3293G= (p.Ser1098=)
c.3254G= (p.Ser1085=)
c.3200G= (p.Ser1067=)
c.3104G= (p.Ser1035=)
c.3074G= (p.Ser1025=)
c.2999G= (p.Ser1000=)
c.2897G= (p.Ser966=)
c.2528G= (p.Ser843=)
5g.112838971G>TCA035157APCc.3042G>T (n.3042G>T)
c.3431G>T (p.Ser1144Ile)
c.*3383G>T (n.*3383G>T)
c.3323G>T (p.Ser1108Ile)
c.3377G>T (p.Ser1126Ile)
c.1730G>T
c.*2699G>T (n.*2699G>T)
c.230+9999G>T
c.3407G>T (p.Ser1136Ile)
c.3302G>T (p.Ser1101Ile)
c.3293G>T (p.Ser1098Ile)
c.3254G>T (p.Ser1085Ile)
c.3200G>T (p.Ser1067Ile)
c.3104G>T (p.Ser1035Ile)
c.3074G>T (p.Ser1025Ile)
c.2999G>T (p.Ser1000Ile)
c.2897G>T (p.Ser966Ile)
c.2528G>T (p.Ser843Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838972C>ACA16028734APCc.3043C>A (n.3043C>A)
c.3432C>A (p.Ser1144Arg)
c.*3384C>A (n.*3384C>A)
c.3324C>A (p.Ser1108Arg)
c.3378C>A (p.Ser1126Arg)
c.1731C>A
c.*2700C>A (n.*2700C>A)
c.230+10000C>A
c.3408C>A (p.Ser1136Arg)
c.3303C>A (p.Ser1101Arg)
c.3294C>A (p.Ser1098Arg)
c.3255C>A (p.Ser1085Arg)
c.3201C>A (p.Ser1067Arg)
c.3105C>A (p.Ser1035Arg)
c.3075C>A (p.Ser1025Arg)
c.3000C>A (p.Ser1000Arg)
c.2898C>A (p.Ser966Arg)
c.2529C>A (p.Ser843Arg)
 dbSNP
5g.112838972C=CA1573488001APCc.3043C= (n.3043C=)
c.3432C= (p.Ser1144=)
c.*3384C= (n.*3384C=)
c.3324C= (p.Ser1108=)
c.3378C= (p.Ser1126=)
c.1731C=
c.*2700C= (n.*2700C=)
c.230+10000C=
c.3408C= (p.Ser1136=)
c.3303C= (p.Ser1101=)
c.3294C= (p.Ser1098=)
c.3255C= (p.Ser1085=)
c.3201C= (p.Ser1067=)
c.3105C= (p.Ser1035=)
c.3075C= (p.Ser1025=)
c.3000C= (p.Ser1000=)
c.2898C= (p.Ser966=)
c.2529C= (p.Ser843=)
5g.112838972C>GCA008342APCc.3043C>G (n.3043C>G)
c.3432C>G (p.Ser1144Arg)
c.*3384C>G (n.*3384C>G)
c.3324C>G (p.Ser1108Arg)
c.3378C>G (p.Ser1126Arg)
c.1731C>G
c.*2700C>G (n.*2700C>G)
c.230+10000C>G
c.3408C>G (p.Ser1136Arg)
c.3303C>G (p.Ser1101Arg)
c.3294C>G (p.Ser1098Arg)
c.3255C>G (p.Ser1085Arg)
c.3201C>G (p.Ser1067Arg)
c.3105C>G (p.Ser1035Arg)
c.3075C>G (p.Ser1025Arg)
c.3000C>G (p.Ser1000Arg)
c.2898C>G (p.Ser966Arg)
c.2529C>G (p.Ser843Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838972C>TCA445963768APCc.3043C>T (n.3043C>T)
c.3432C>T (p.Ser1144=)
c.*3384C>T (n.*3384C>T)
c.3324C>T (p.Ser1108=)
c.3378C>T (p.Ser1126=)
c.1731C>T
c.*2700C>T (n.*2700C>T)
c.230+10000C>T
c.3408C>T (p.Ser1136=)
c.3303C>T (p.Ser1101=)
c.3294C>T (p.Ser1098=)
c.3255C>T (p.Ser1085=)
c.3201C>T (p.Ser1067=)
c.3105C>T (p.Ser1035=)
c.3075C>T (p.Ser1025=)
c.3000C>T (p.Ser1000=)
c.2898C>T (p.Ser966=)
c.2529C>T (p.Ser843=)
 ClinVar dbSNP gnomAD v4
5g.112838973C>ACA16028735APCc.3044C>A (n.3044C>A)
c.3433C>A (p.Gln1145Lys)
c.*3385C>A (n.*3385C>A)
c.3325C>A (p.Gln1109Lys)
c.3379C>A (p.Gln1127Lys)
c.1732C>A
c.*2701C>A (n.*2701C>A)
c.230+10001C>A
c.3409C>A (p.Gln1137Lys)
c.3304C>A (p.Gln1102Lys)
c.3295C>A (p.Gln1099Lys)
c.3256C>A (p.Gln1086Lys)
c.3202C>A (p.Gln1068Lys)
c.3106C>A (p.Gln1036Lys)
c.3076C>A (p.Gln1026Lys)
c.3001C>A (p.Gln1001Lys)
c.2899C>A (p.Gln967Lys)
c.2530C>A (p.Gln844Lys)
 ClinVar dbSNP
5g.112838973C=CA1573488005APCc.3044C= (n.3044C=)
c.3433C= (p.Gln1145=)
c.*3385C= (n.*3385C=)
c.3325C= (p.Gln1109=)
c.3379C= (p.Gln1127=)
c.1732C=
c.*2701C= (n.*2701C=)
c.230+10001C=
c.3409C= (p.Gln1137=)
c.3304C= (p.Gln1102=)
c.3295C= (p.Gln1099=)
c.3256C= (p.Gln1086=)
c.3202C= (p.Gln1068=)
c.3106C= (p.Gln1036=)
c.3076C= (p.Gln1026=)
c.3001C= (p.Gln1001=)
c.2899C= (p.Gln967=)
c.2530C= (p.Gln844=)
5g.112838973C>GCA16028736APCc.3044C>G (n.3044C>G)
c.3433C>G (p.Gln1145Glu)
c.*3385C>G (n.*3385C>G)
c.3325C>G (p.Gln1109Glu)
c.3379C>G (p.Gln1127Glu)
c.1732C>G
c.*2701C>G (n.*2701C>G)
c.230+10001C>G
c.3409C>G (p.Gln1137Glu)
c.3304C>G (p.Gln1102Glu)
c.3295C>G (p.Gln1099Glu)
c.3256C>G (p.Gln1086Glu)
c.3202C>G (p.Gln1068Glu)
c.3106C>G (p.Gln1036Glu)
c.3076C>G (p.Gln1026Glu)
c.3001C>G (p.Gln1001Glu)
c.2899C>G (p.Gln967Glu)
c.2530C>G (p.Gln844Glu)
 dbSNP
5g.112838973C>TCA16028737APCc.3044C>T (n.3044C>T)
c.3433C>T (p.Gln1145Ter)
c.*3385C>T (n.*3385C>T)
c.3325C>T (p.Gln1109Ter)
c.3379C>T (p.Gln1127Ter)
c.1732C>T
c.*2701C>T (n.*2701C>T)
c.230+10001C>T
c.3409C>T (p.Gln1137Ter)
c.3304C>T (p.Gln1102Ter)
c.3295C>T (p.Gln1099Ter)
c.3256C>T (p.Gln1086Ter)
c.3202C>T (p.Gln1068Ter)
c.3106C>T (p.Gln1036Ter)
c.3076C>T (p.Gln1026Ter)
c.3001C>T (p.Gln1001Ter)
c.2899C>T (p.Gln967Ter)
c.2530C>T (p.Gln844Ter)
 ClinVar dbSNP COSMIC
5g.112838974A>CCA16028738APCc.3045A>C (n.3045A>C)
c.3434A>C (p.Gln1145Pro)
c.*3386A>C (n.*3386A>C)
c.3326A>C (p.Gln1109Pro)
c.3380A>C (p.Gln1127Pro)
c.1733A>C
c.*2702A>C (n.*2702A>C)
c.230+10002A>C
c.3410A>C (p.Gln1137Pro)
c.3305A>C (p.Gln1102Pro)
c.3296A>C (p.Gln1099Pro)
c.3257A>C (p.Gln1086Pro)
c.3203A>C (p.Gln1068Pro)
c.3107A>C (p.Gln1036Pro)
c.3077A>C (p.Gln1026Pro)
c.3002A>C (p.Gln1001Pro)
c.2900A>C (p.Gln967Pro)
c.2531A>C (p.Gln844Pro)
5g.112838974A>GCA16028739APCc.3045A>G (n.3045A>G)
c.3434A>G (p.Gln1145Arg)
c.*3386A>G (n.*3386A>G)
c.3326A>G (p.Gln1109Arg)
c.3380A>G (p.Gln1127Arg)
c.1733A>G
c.*2702A>G (n.*2702A>G)
c.230+10002A>G
c.3410A>G (p.Gln1137Arg)
c.3305A>G (p.Gln1102Arg)
c.3296A>G (p.Gln1099Arg)
c.3257A>G (p.Gln1086Arg)
c.3203A>G (p.Gln1068Arg)
c.3107A>G (p.Gln1036Arg)
c.3077A>G (p.Gln1026Arg)
c.3002A>G (p.Gln1001Arg)
c.2900A>G (p.Gln967Arg)
c.2531A>G (p.Gln844Arg)
5g.112838974A>TCA16028740APCc.3045A>T (n.3045A>T)
c.3434A>T (p.Gln1145Leu)
c.*3386A>T (n.*3386A>T)
c.3326A>T (p.Gln1109Leu)
c.3380A>T (p.Gln1127Leu)
c.1733A>T
c.*2702A>T (n.*2702A>T)
c.230+10002A>T
c.3410A>T (p.Gln1137Leu)
c.3305A>T (p.Gln1102Leu)
c.3296A>T (p.Gln1099Leu)
c.3257A>T (p.Gln1086Leu)
c.3203A>T (p.Gln1068Leu)
c.3107A>T (p.Gln1036Leu)
c.3077A>T (p.Gln1026Leu)
c.3002A>T (p.Gln1001Leu)
c.2900A>T (p.Gln967Leu)
c.2531A>T (p.Gln844Leu)
 dbSNP
5g.112838974_112838979delinsTACCAAAACA2695204931APCc.3045_3050delinsTACCAAAA (n.3045_3050delinsTACCAAAA)
c.3434_3439delinsTACCAAAA (p.Gln1145LeufsTer?)
c.*3386_*3391delinsTACCAAAA (n.*3386_*3391delinsTACCAAAA)
c.3326_3331delinsTACCAAAA (p.Gln1109LeufsTer?)
c.3380_3385delinsTACCAAAA (p.Gln1127LeufsTer?)
c.1733_1738delinsTACCAAAA
c.*2702_*2707delinsTACCAAAA (n.*2702_*2707delinsTACCAAAA)
c.230+10002_230+10007delinsTACCAAAA
c.3410_3415delinsTACCAAAA (p.Gln1137LeufsTer?)
c.3305_3310delinsTACCAAAA (p.Gln1102LeufsTer?)
c.3296_3301delinsTACCAAAA (p.Gln1099LeufsTer?)
c.3257_3262delinsTACCAAAA (p.Gln1086LeufsTer?)
c.3203_3208delinsTACCAAAA (p.Gln1068LeufsTer?)
c.3107_3112delinsTACCAAAA (p.Gln1036LeufsTer?)
c.3077_3082delinsTACCAAAA (p.Gln1026LeufsTer?)
c.3002_3007delinsTACCAAAA (p.Gln1001LeufsTer?)
c.2900_2905delinsTACCAAAA (p.Gln967LeufsTer?)
c.2531_2536delinsTACCAAAA (p.Gln844LeufsTer?)
5g.112838975G>ACA445963771APCc.3046G>A (n.3046G>A)
c.3435G>A (p.Gln1145=)
c.*3387G>A (n.*3387G>A)
c.3327G>A (p.Gln1109=)
c.3381G>A (p.Gln1127=)
c.1734G>A
c.*2703G>A (n.*2703G>A)
c.230+10003G>A
c.3411G>A (p.Gln1137=)
c.3306G>A (p.Gln1102=)
c.3297G>A (p.Gln1099=)
c.3258G>A (p.Gln1086=)
c.3204G>A (p.Gln1068=)
c.3108G>A (p.Gln1036=)
c.3078G>A (p.Gln1026=)
c.3003G>A (p.Gln1001=)
c.2901G>A (p.Gln967=)
c.2532G>A (p.Gln844=)
 ClinVar dbSNP
5g.112838975G>CCA16028741APCc.3046G>C (n.3046G>C)
c.3435G>C (p.Gln1145His)
c.*3387G>C (n.*3387G>C)
c.3327G>C (p.Gln1109His)
c.3381G>C (p.Gln1127His)
c.1734G>C
c.*2703G>C (n.*2703G>C)
c.230+10003G>C
c.3411G>C (p.Gln1137His)
c.3306G>C (p.Gln1102His)
c.3297G>C (p.Gln1099His)
c.3258G>C (p.Gln1086His)
c.3204G>C (p.Gln1068His)
c.3108G>C (p.Gln1036His)
c.3078G>C (p.Gln1026His)
c.3003G>C (p.Gln1001His)
c.2901G>C (p.Gln967His)
c.2532G>C (p.Gln844His)
 ClinVar dbSNP gnomAD v4
5g.112838975G=CA1573488011APCc.3046G= (n.3046G=)
c.3435G= (p.Gln1145=)
c.*3387G= (n.*3387G=)
c.3327G= (p.Gln1109=)
c.3381G= (p.Gln1127=)
c.1734G=
c.*2703G= (n.*2703G=)
c.230+10003G=
c.3411G= (p.Gln1137=)
c.3306G= (p.Gln1102=)
c.3297G= (p.Gln1099=)
c.3258G= (p.Gln1086=)
c.3204G= (p.Gln1068=)
c.3108G= (p.Gln1036=)
c.3078G= (p.Gln1026=)
c.3003G= (p.Gln1001=)
c.2901G= (p.Gln967=)
c.2532G= (p.Gln844=)
5g.112838975G>TCA16028742APCc.3046G>T (n.3046G>T)
c.3435G>T (p.Gln1145His)
c.*3387G>T (n.*3387G>T)
c.3327G>T (p.Gln1109His)
c.3381G>T (p.Gln1127His)
c.1734G>T
c.*2703G>T (n.*2703G>T)
c.230+10003G>T
c.3411G>T (p.Gln1137His)
c.3306G>T (p.Gln1102His)
c.3297G>T (p.Gln1099His)
c.3258G>T (p.Gln1086His)
c.3204G>T (p.Gln1068His)
c.3108G>T (p.Gln1036His)
c.3078G>T (p.Gln1026His)
c.3003G>T (p.Gln1001His)
c.2901G>T (p.Gln967His)
c.2532G>T (p.Gln844His)
 ClinVar dbSNP
5g.112838976T>ACA16028743APCc.3047T>A (n.3047T>A)
c.3436T>A (p.Ser1146Thr)
c.*3388T>A (n.*3388T>A)
c.3328T>A (p.Ser1110Thr)
c.3382T>A (p.Ser1128Thr)
c.1735T>A
c.*2704T>A (n.*2704T>A)
c.230+10004T>A
c.3412T>A (p.Ser1138Thr)
c.3307T>A (p.Ser1103Thr)
c.3298T>A (p.Ser1100Thr)
c.3259T>A (p.Ser1087Thr)
c.3205T>A (p.Ser1069Thr)
c.3109T>A (p.Ser1037Thr)
c.3079T>A (p.Ser1027Thr)
c.3004T>A (p.Ser1002Thr)
c.2902T>A (p.Ser968Thr)
c.2533T>A (p.Ser845Thr)
 dbSNP
5g.112838976T>CCA16028744APCc.3047T>C (n.3047T>C)
c.3436T>C (p.Ser1146Pro)
c.*3388T>C (n.*3388T>C)
c.3328T>C (p.Ser1110Pro)
c.3382T>C (p.Ser1128Pro)
c.1735T>C
c.*2704T>C (n.*2704T>C)
c.230+10004T>C
c.3412T>C (p.Ser1138Pro)
c.3307T>C (p.Ser1103Pro)
c.3298T>C (p.Ser1100Pro)
c.3259T>C (p.Ser1087Pro)
c.3205T>C (p.Ser1069Pro)
c.3109T>C (p.Ser1037Pro)
c.3079T>C (p.Ser1027Pro)
c.3004T>C (p.Ser1002Pro)
c.2902T>C (p.Ser968Pro)
c.2533T>C (p.Ser845Pro)
5g.112838976T>GCA16028745APCc.3047T>G (n.3047T>G)
c.3436T>G (p.Ser1146Ala)
c.*3388T>G (n.*3388T>G)
c.3328T>G (p.Ser1110Ala)
c.3382T>G (p.Ser1128Ala)
c.1735T>G
c.*2704T>G (n.*2704T>G)
c.230+10004T>G
c.3412T>G (p.Ser1138Ala)
c.3307T>G (p.Ser1103Ala)
c.3298T>G (p.Ser1100Ala)
c.3259T>G (p.Ser1087Ala)
c.3205T>G (p.Ser1069Ala)
c.3109T>G (p.Ser1037Ala)
c.3079T>G (p.Ser1027Ala)
c.3004T>G (p.Ser1002Ala)
c.2902T>G (p.Ser968Ala)
c.2533T>G (p.Ser845Ala)
 dbSNP
5g.112838977C>ACA16028746APCc.3048C>A (n.3048C>A)
c.3437C>A (p.Ser1146Tyr)
c.*3389C>A (n.*3389C>A)
c.3329C>A (p.Ser1110Tyr)
c.3383C>A (p.Ser1128Tyr)
c.1736C>A
c.*2705C>A (n.*2705C>A)
c.230+10005C>A
c.3413C>A (p.Ser1138Tyr)
c.3308C>A (p.Ser1103Tyr)
c.3299C>A (p.Ser1100Tyr)
c.3260C>A (p.Ser1087Tyr)
c.3206C>A (p.Ser1069Tyr)
c.3110C>A (p.Ser1037Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3005C>A (p.Ser1002Tyr)
c.2903C>A (p.Ser968Tyr)
c.2534C>A (p.Ser845Tyr)
 ClinVar dbSNP
5g.112838977C=CA1573488027APCc.3048C= (n.3048C=)
c.3437C= (p.Ser1146=)
c.*3389C= (n.*3389C=)
c.3329C= (p.Ser1110=)
c.3383C= (p.Ser1128=)
c.1736C=
c.*2705C= (n.*2705C=)
c.230+10005C=
c.3413C= (p.Ser1138=)
c.3308C= (p.Ser1103=)
c.3299C= (p.Ser1100=)
c.3260C= (p.Ser1087=)
c.3206C= (p.Ser1069=)
c.3110C= (p.Ser1037=)
c.3080C= (p.Ser1027=)
c.3005C= (p.Ser1002=)
c.2903C= (p.Ser968=)
c.2534C= (p.Ser845=)
5g.112838977C>GCA035180APCc.3048C>G (n.3048C>G)
c.3437C>G (p.Ser1146Cys)
c.*3389C>G (n.*3389C>G)
c.3329C>G (p.Ser1110Cys)
c.3383C>G (p.Ser1128Cys)
c.1736C>G
c.*2705C>G (n.*2705C>G)
c.230+10005C>G
c.3413C>G (p.Ser1138Cys)
c.3308C>G (p.Ser1103Cys)
c.3299C>G (p.Ser1100Cys)
c.3260C>G (p.Ser1087Cys)
c.3206C>G (p.Ser1069Cys)
c.3110C>G (p.Ser1037Cys)
c.3080C>G (p.Ser1027Cys)
c.3005C>G (p.Ser1002Cys)
c.2903C>G (p.Ser968Cys)
c.2534C>G (p.Ser845Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838977C>TCA16028747APCc.3048C>T (n.3048C>T)
c.3437C>T (p.Ser1146Phe)
c.*3389C>T (n.*3389C>T)
c.3329C>T (p.Ser1110Phe)
c.3383C>T (p.Ser1128Phe)
c.1736C>T
c.*2705C>T (n.*2705C>T)
c.230+10005C>T
c.3413C>T (p.Ser1138Phe)
c.3308C>T (p.Ser1103Phe)
c.3299C>T (p.Ser1100Phe)
c.3260C>T (p.Ser1087Phe)
c.3206C>T (p.Ser1069Phe)
c.3110C>T (p.Ser1037Phe)
c.3080C>T (p.Ser1027Phe)
c.3005C>T (p.Ser1002Phe)
c.2903C>T (p.Ser968Phe)
c.2534C>T (p.Ser845Phe)
 dbSNP
5g.112838977_112838979delinsCTTCA1573488021APCc.3048_3050delinsCTT (n.3048_3050delinsCTT)
c.3437_3439delinsCTT (p.Ser1146=)
c.*3389_*3391delinsCTT (n.*3389_*3391delinsCTT)
c.3329_3331delinsCTT (p.Ser1110=)
c.3383_3385delinsCTT (p.Ser1128=)
c.1736_1738delinsCTT
c.*2705_*2707delinsCTT (n.*2705_*2707delinsCTT)
c.230+10005_230+10007delinsCTT
c.3413_3415delinsCTT (p.Ser1138=)
c.3308_3310delinsCTT (p.Ser1103=)
c.3299_3301delinsCTT (p.Ser1100=)
c.3260_3262delinsCTT (p.Ser1087=)
c.3206_3208delinsCTT (p.Ser1069=)
c.3110_3112delinsCTT (p.Ser1037=)
c.3080_3082delinsCTT (p.Ser1027=)
c.3005_3007delinsCTT (p.Ser1002=)
c.2903_2905delinsCTT (p.Ser968=)
c.2534_2536delinsCTT (p.Ser845=)
5g.112838978T>ACA445963773APCc.3049T>A (n.3049T>A)
c.3438T>A (p.Ser1146=)
c.*3390T>A (n.*3390T>A)
c.3330T>A (p.Ser1110=)
c.3384T>A (p.Ser1128=)
c.1737T>A
c.*2706T>A (n.*2706T>A)
c.230+10006T>A
c.3414T>A (p.Ser1138=)
c.3309T>A (p.Ser1103=)
c.3300T>A (p.Ser1100=)
c.3261T>A (p.Ser1087=)
c.3207T>A (p.Ser1069=)
c.3111T>A (p.Ser1037=)
c.3081T>A (p.Ser1027=)
c.3006T>A (p.Ser1002=)
c.2904T>A (p.Ser968=)
c.2535T>A (p.Ser845=)
 dbSNP
5g.112838978T>CCA445963774APCc.3049T>C (n.3049T>C)
c.3438T>C (p.Ser1146=)
c.*3390T>C (n.*3390T>C)
c.3330T>C (p.Ser1110=)
c.3384T>C (p.Ser1128=)
c.1737T>C
c.*2706T>C (n.*2706T>C)
c.230+10006T>C
c.3414T>C (p.Ser1138=)
c.3309T>C (p.Ser1103=)
c.3300T>C (p.Ser1100=)
c.3261T>C (p.Ser1087=)
c.3207T>C (p.Ser1069=)
c.3111T>C (p.Ser1037=)
c.3081T>C (p.Ser1027=)
c.3006T>C (p.Ser1002=)
c.2904T>C (p.Ser968=)
c.2535T>C (p.Ser845=)
 ClinVar gnomAD v4
5g.112838978T>GCA445963775APCc.3049T>G (n.3049T>G)
c.3438T>G (p.Ser1146=)
c.*3390T>G (n.*3390T>G)
c.3330T>G (p.Ser1110=)
c.3384T>G (p.Ser1128=)
c.1737T>G
c.*2706T>G (n.*2706T>G)
c.230+10006T>G
c.3414T>G (p.Ser1138=)
c.3309T>G (p.Ser1103=)
c.3300T>G (p.Ser1100=)
c.3261T>G (p.Ser1087=)
c.3207T>G (p.Ser1069=)
c.3111T>G (p.Ser1037=)
c.3081T>G (p.Ser1027=)
c.3006T>G (p.Ser1002=)
c.2904T>G (p.Ser968=)
c.2535T>G (p.Ser845=)
 dbSNP
5g.112838980dupCA2695204932APCc.3051dup (n.3051dup)
c.3440dup (p.Leu1147PhefsTer6)
c.*3392dup (n.*3392dup)
c.3332dup (p.Leu1111PhefsTer6)
c.3386dup (p.Leu1129PhefsTer6)
c.1739dup
c.*2708dup (n.*2708dup)
c.230+10008dup
c.3416dup (p.Leu1139PhefsTer6)
c.3311dup (p.Leu1104PhefsTer6)
c.3302dup (p.Leu1101PhefsTer6)
c.3263dup (p.Leu1088PhefsTer6)
c.3209dup (p.Leu1070PhefsTer6)
c.3113dup (p.Leu1038PhefsTer6)
c.3083dup (p.Leu1028PhefsTer6)
c.3008dup (p.Leu1003PhefsTer6)
c.2906dup (p.Leu969PhefsTer6)
c.2537dup (p.Leu846PhefsTer6)
5g.112838980delCA645369369APCc.3051del (n.3051del)
c.3440del (p.Leu1147CysfsTer?)
c.*3392del (n.*3392del)
c.3332del (p.Leu1111CysfsTer?)
c.3386del (p.Leu1129CysfsTer?)
c.1739del
c.*2708del (n.*2708del)
c.230+10008del
c.3416del (p.Leu1139CysfsTer?)
c.3311del (p.Leu1104CysfsTer?)
c.3302del (p.Leu1101CysfsTer?)
c.3263del (p.Leu1088CysfsTer?)
c.3209del (p.Leu1070CysfsTer?)
c.3113del (p.Leu1038CysfsTer?)
c.3083del (p.Leu1028CysfsTer?)
c.3008del (p.Leu1003CysfsTer?)
c.2906del (p.Leu969CysfsTer?)
c.2537del (p.Leu846CysfsTer?)
 ClinVar dbSNP
5g.112838979_112838980delCA645543565APCc.3050_3051del (n.3050_3051del)
c.3439_3440del (p.Leu1147ValfsTer5)
c.*3391_*3392del (n.*3391_*3392del)
c.3331_3332del (p.Leu1111ValfsTer5)
c.3385_3386del (p.Leu1129ValfsTer5)
c.1738_1739del
c.*2707_*2708del (n.*2707_*2708del)
c.230+10007_230+10008del
c.3415_3416del (p.Leu1139ValfsTer5)
c.3310_3311del (p.Leu1104ValfsTer5)
c.3301_3302del (p.Leu1101ValfsTer5)
c.3262_3263del (p.Leu1088ValfsTer5)
c.3208_3209del (p.Leu1070ValfsTer5)
c.3112_3113del (p.Leu1038ValfsTer5)
c.3082_3083del (p.Leu1028ValfsTer5)
c.3007_3008del (p.Leu1003ValfsTer5)
c.2905_2906del (p.Leu969ValfsTer5)
c.2536_2537del (p.Leu846ValfsTer5)
 ClinVar dbSNP COSMIC
5g.112838979T>ACA16028748APCc.3050T>A (n.3050T>A)
c.3439T>A (p.Leu1147Met)
c.*3391T>A (n.*3391T>A)
c.3331T>A (p.Leu1111Met)
c.3385T>A (p.Leu1129Met)
c.1738T>A
c.*2707T>A (n.*2707T>A)
c.230+10007T>A
c.3415T>A (p.Leu1139Met)
c.3310T>A (p.Leu1104Met)
c.3301T>A (p.Leu1101Met)
c.3262T>A (p.Leu1088Met)
c.3208T>A (p.Leu1070Met)
c.3112T>A (p.Leu1038Met)
c.3082T>A (p.Leu1028Met)
c.3007T>A (p.Leu1003Met)
c.2905T>A (p.Leu969Met)
c.2536T>A (p.Leu846Met)
 dbSNP
5g.112838979T>CCA445963776APCc.3050T>C (n.3050T>C)
c.3439T>C (p.Leu1147=)
c.*3391T>C (n.*3391T>C)
c.3331T>C (p.Leu1111=)
c.3385T>C (p.Leu1129=)
c.1738T>C
c.*2707T>C (n.*2707T>C)
c.230+10007T>C
c.3415T>C (p.Leu1139=)
c.3310T>C (p.Leu1104=)
c.3301T>C (p.Leu1101=)
c.3262T>C (p.Leu1088=)
c.3208T>C (p.Leu1070=)
c.3112T>C (p.Leu1038=)
c.3082T>C (p.Leu1028=)
c.3007T>C (p.Leu1003=)
c.2905T>C (p.Leu969=)
c.2536T>C (p.Leu846=)
 dbSNP
5g.112838979T>GCA16028749APCc.3050T>G (n.3050T>G)
c.3439T>G (p.Leu1147Val)
c.*3391T>G (n.*3391T>G)
c.3331T>G (p.Leu1111Val)
c.3385T>G (p.Leu1129Val)
c.1738T>G
c.*2707T>G (n.*2707T>G)
c.230+10007T>G
c.3415T>G (p.Leu1139Val)
c.3310T>G (p.Leu1104Val)
c.3301T>G (p.Leu1101Val)
c.3262T>G (p.Leu1088Val)
c.3208T>G (p.Leu1070Val)
c.3112T>G (p.Leu1038Val)
c.3082T>G (p.Leu1028Val)
c.3007T>G (p.Leu1003Val)
c.2905T>G (p.Leu969Val)
c.2536T>G (p.Leu846Val)
5g.112838980_112838993delCA2695204933APCc.3051_3064del (n.3051_3064del)
c.3440_3453del (p.Leu1147Ter)
c.*3392_*3405del (n.*3392_*3405del)
c.3332_3345del (p.Leu1111Ter)
c.3386_3399del (p.Leu1129Ter)
c.1739_1752del
c.*2708_*2721del (n.*2708_*2721del)
c.230+10008_230+10021del
c.3416_3429del (p.Leu1139Ter)
c.3311_3324del (p.Leu1104Ter)
c.3302_3315del (p.Leu1101Ter)
c.3263_3276del (p.Leu1088Ter)
c.3209_3222del (p.Leu1070Ter)
c.3113_3126del (p.Leu1038Ter)
c.3083_3096del (p.Leu1028Ter)
c.3008_3021del (p.Leu1003Ter)
c.2906_2919del (p.Leu969Ter)
c.2537_2550del (p.Leu846Ter)
5g.112838979_112838980insACA2580612774APCc.3050_3051insA (n.3050_3051insA)
c.3439_3440insA (p.Leu1147TyrfsTer6)
c.*3391_*3392insA (n.*3391_*3392insA)
c.3331_3332insA (p.Leu1111TyrfsTer6)
c.3385_3386insA (p.Leu1129TyrfsTer6)
c.1738_1739insA
c.*2707_*2708insA (n.*2707_*2708insA)
c.230+10007_230+10008insA
c.3415_3416insA (p.Leu1139TyrfsTer6)
c.3310_3311insA (p.Leu1104TyrfsTer6)
c.3301_3302insA (p.Leu1101TyrfsTer6)
c.3262_3263insA (p.Leu1088TyrfsTer6)
c.3208_3209insA (p.Leu1070TyrfsTer6)
c.3112_3113insA (p.Leu1038TyrfsTer6)
c.3082_3083insA (p.Leu1028TyrfsTer6)
c.3007_3008insA (p.Leu1003TyrfsTer6)
c.2905_2906insA (p.Leu969TyrfsTer6)
c.2536_2537insA (p.Leu846TyrfsTer6)
 ClinVar
5g.112838980T>ACA16028750APCc.3051T>A (n.3051T>A)
c.3440T>A (p.Leu1147Ter)
c.*3392T>A (n.*3392T>A)
c.3332T>A (p.Leu1111Ter)
c.3386T>A (p.Leu1129Ter)
c.1739T>A
c.*2708T>A (n.*2708T>A)
c.230+10008T>A
c.3416T>A (p.Leu1139Ter)
c.3311T>A (p.Leu1104Ter)
c.3302T>A (p.Leu1101Ter)
c.3263T>A (p.Leu1088Ter)
c.3209T>A (p.Leu1070Ter)
c.3113T>A (p.Leu1038Ter)
c.3083T>A (p.Leu1028Ter)
c.3008T>A (p.Leu1003Ter)
c.2906T>A (p.Leu969Ter)
c.2537T>A (p.Leu846Ter)
 ClinVar dbSNP
5g.112838980T>CCA008351APCc.3051T>C (n.3051T>C)
c.3440T>C (p.Leu1147Ser)
c.*3392T>C (n.*3392T>C)
c.3332T>C (p.Leu1111Ser)
c.3386T>C (p.Leu1129Ser)
c.1739T>C
c.*2708T>C (n.*2708T>C)
c.230+10008T>C
c.3416T>C (p.Leu1139Ser)
c.3311T>C (p.Leu1104Ser)
c.3302T>C (p.Leu1101Ser)
c.3263T>C (p.Leu1088Ser)
c.3209T>C (p.Leu1070Ser)
c.3113T>C (p.Leu1038Ser)
c.3083T>C (p.Leu1028Ser)
c.3008T>C (p.Leu1003Ser)
c.2906T>C (p.Leu969Ser)
c.2537T>C (p.Leu846Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112838980T>GCA16028751APCc.3051T>G (n.3051T>G)
c.3440T>G (p.Leu1147Trp)
c.*3392T>G (n.*3392T>G)
c.3332T>G (p.Leu1111Trp)
c.3386T>G (p.Leu1129Trp)
c.1739T>G
c.*2708T>G (n.*2708T>G)
c.230+10008T>G
c.3416T>G (p.Leu1139Trp)
c.3311T>G (p.Leu1104Trp)
c.3302T>G (p.Leu1101Trp)
c.3263T>G (p.Leu1088Trp)
c.3209T>G (p.Leu1070Trp)
c.3113T>G (p.Leu1038Trp)
c.3083T>G (p.Leu1028Trp)
c.3008T>G (p.Leu1003Trp)
c.2906T>G (p.Leu969Trp)
c.2537T>G (p.Leu846Trp)
5g.112838980T=CA1573488044APCc.3051T= (n.3051T=)
c.3440T= (p.Leu1147=)
c.*3392T= (n.*3392T=)
c.3332T= (p.Leu1111=)
c.3386T= (p.Leu1129=)
c.1739T=
c.*2708T= (n.*2708T=)
c.230+10008T=
c.3416T= (p.Leu1139=)
c.3311T= (p.Leu1104=)
c.3302T= (p.Leu1101=)
c.3263T= (p.Leu1088=)
c.3209T= (p.Leu1070=)
c.3113T= (p.Leu1038=)
c.3083T= (p.Leu1028=)
c.3008T= (p.Leu1003=)
c.2906T= (p.Leu969=)
c.2537T= (p.Leu846=)
5g.112838981G>ACA445963778APCc.3052G>A (n.3052G>A)
c.3441G>A (p.Leu1147=)
c.*3393G>A (n.*3393G>A)
c.3333G>A (p.Leu1111=)
c.3387G>A (p.Leu1129=)
c.1740G>A
c.*2709G>A (n.*2709G>A)
c.230+10009G>A
c.3417G>A (p.Leu1139=)
c.3312G>A (p.Leu1104=)
c.3303G>A (p.Leu1101=)
c.3264G>A (p.Leu1088=)
c.3210G>A (p.Leu1070=)
c.3114G>A (p.Leu1038=)
c.3084G>A (p.Leu1028=)
c.3009G>A (p.Leu1003=)
c.2907G>A (p.Leu969=)
c.2538G>A (p.Leu846=)
 ClinVar gnomAD v4
5g.112838981G>CCA16028752APCc.3052G>C (n.3052G>C)
c.3441G>C (p.Leu1147Phe)
c.*3393G>C (n.*3393G>C)
c.3333G>C (p.Leu1111Phe)
c.3387G>C (p.Leu1129Phe)
c.1740G>C
c.*2709G>C (n.*2709G>C)
c.230+10009G>C
c.3417G>C (p.Leu1139Phe)
c.3312G>C (p.Leu1104Phe)
c.3303G>C (p.Leu1101Phe)
c.3264G>C (p.Leu1088Phe)
c.3210G>C (p.Leu1070Phe)
c.3114G>C (p.Leu1038Phe)
c.3084G>C (p.Leu1028Phe)
c.3009G>C (p.Leu1003Phe)
c.2907G>C (p.Leu969Phe)
c.2538G>C (p.Leu846Phe)
 ClinVar
5g.112838981G=CA1573488051APCc.3052G= (n.3052G=)
c.3441G= (p.Leu1147=)
c.*3393G= (n.*3393G=)
c.3333G= (p.Leu1111=)
c.3387G= (p.Leu1129=)
c.1740G=
c.*2709G= (n.*2709G=)
c.230+10009G=
c.3417G= (p.Leu1139=)
c.3312G= (p.Leu1104=)
c.3303G= (p.Leu1101=)
c.3264G= (p.Leu1088=)
c.3210G= (p.Leu1070=)
c.3114G= (p.Leu1038=)
c.3084G= (p.Leu1028=)
c.3009G= (p.Leu1003=)
c.2907G= (p.Leu969=)
c.2538G= (p.Leu846=)
5g.112838981G>TCA008358APCc.3052G>T (n.3052G>T)
c.3441G>T (p.Leu1147Phe)
c.*3393G>T (n.*3393G>T)
c.3333G>T (p.Leu1111Phe)
c.3387G>T (p.Leu1129Phe)
c.1740G>T
c.*2709G>T (n.*2709G>T)
c.230+10009G>T
c.3417G>T (p.Leu1139Phe)
c.3312G>T (p.Leu1104Phe)
c.3303G>T (p.Leu1101Phe)
c.3264G>T (p.Leu1088Phe)
c.3210G>T (p.Leu1070Phe)
c.3114G>T (p.Leu1038Phe)
c.3084G>T (p.Leu1028Phe)
c.3009G>T (p.Leu1003Phe)
c.2907G>T (p.Leu969Phe)
c.2538G>T (p.Leu846Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112838985_112840960delCA2838032980APCc.3445_5420del (p.Gln1149LysfsTer9)
c.*3397_*5372del (n.*3397_*5372del)
c.3337_5312del (p.Gln1113LysfsTer9)
c.3391_5366del (p.Gln1131LysfsTer9)
c.*2713_*4688del (n.*2713_*4688del)
c.230+10013_230+11988del
c.3421_5396del (p.Gln1141LysfsTer9)
c.3316_5291del (p.Gln1106LysfsTer9)
c.3307_5282del (p.Gln1103LysfsTer9)
c.3268_5243del (p.Gln1090LysfsTer9)
c.3214_5189del (p.Gln1072LysfsTer9)
c.3118_5093del (p.Gln1040LysfsTer9)
c.3088_5063del (p.Gln1030LysfsTer9)
c.3013_4988del (p.Gln1005LysfsTer9)
c.2911_4886del (p.Gln971LysfsTer9)
c.2542_4517del (p.Gln848LysfsTer9)
5g.112838982T>ACA16028753APCc.3053T>A (n.3053T>A)
c.3442T>A (p.Cys1148Ser)
c.*3394T>A (n.*3394T>A)
c.3334T>A (p.Cys1112Ser)
c.3388T>A (p.Cys1130Ser)
c.1741T>A
c.*2710T>A (n.*2710T>A)
c.230+10010T>A
c.3418T>A (p.Cys1140Ser)
c.3313T>A (p.Cys1105Ser)
c.3304T>A (p.Cys1102Ser)
c.3265T>A (p.Cys1089Ser)
c.3211T>A (p.Cys1071Ser)
c.3115T>A (p.Cys1039Ser)
c.3085T>A (p.Cys1029Ser)
c.3010T>A (p.Cys1004Ser)
c.2908T>A (p.Cys970Ser)
c.2539T>A (p.Cys847Ser)
 dbSNP
5g.112838982T>CCA16028754APCc.3053T>C (n.3053T>C)
c.3442T>C (p.Cys1148Arg)
c.*3394T>C (n.*3394T>C)
c.3334T>C (p.Cys1112Arg)
c.3388T>C (p.Cys1130Arg)
c.1741T>C
c.*2710T>C (n.*2710T>C)
c.230+10010T>C
c.3418T>C (p.Cys1140Arg)
c.3313T>C (p.Cys1105Arg)
c.3304T>C (p.Cys1102Arg)
c.3265T>C (p.Cys1089Arg)
c.3211T>C (p.Cys1071Arg)
c.3115T>C (p.Cys1039Arg)
c.3085T>C (p.Cys1029Arg)
c.3010T>C (p.Cys1004Arg)
c.2908T>C (p.Cys970Arg)
c.2539T>C (p.Cys847Arg)
 ClinVar dbSNP
5g.112838982T>GCA16028755APCc.3053T>G (n.3053T>G)
c.3442T>G (p.Cys1148Gly)
c.*3394T>G (n.*3394T>G)
c.3334T>G (p.Cys1112Gly)
c.3388T>G (p.Cys1130Gly)
c.1741T>G
c.*2710T>G (n.*2710T>G)
c.230+10010T>G
c.3418T>G (p.Cys1140Gly)
c.3313T>G (p.Cys1105Gly)
c.3304T>G (p.Cys1102Gly)
c.3265T>G (p.Cys1089Gly)
c.3211T>G (p.Cys1071Gly)
c.3115T>G (p.Cys1039Gly)
c.3085T>G (p.Cys1029Gly)
c.3010T>G (p.Cys1004Gly)
c.2908T>G (p.Cys970Gly)
c.2539T>G (p.Cys847Gly)
 dbSNP
5g.112838984_112838994delCA645543566APCc.3055_3065del (n.3055_3065del)
c.3444_3454del (p.Cys1148Ter)
c.*3396_*3406del (n.*3396_*3406del)
c.3336_3346del (p.Cys1112Ter)
c.3390_3400del (p.Cys1130Ter)
c.1743_1753del
c.*2712_*2722del (n.*2712_*2722del)
c.230+10012_230+10022del
c.3420_3430del (p.Cys1140Ter)
c.3315_3325del (p.Cys1105Ter)
c.3306_3316del (p.Cys1102Ter)
c.3267_3277del (p.Cys1089Ter)
c.3213_3223del (p.Cys1071Ter)
c.3117_3127del (p.Cys1039Ter)
c.3087_3097del (p.Cys1029Ter)
c.3012_3022del (p.Cys1004Ter)
c.2910_2920del (p.Cys970Ter)
c.2541_2551del (p.Cys847Ter)
 COSMIC
5g.112838983G>ACA16028756APCc.3054G>A (n.3054G>A)
c.3443G>A (p.Cys1148Tyr)
c.*3395G>A (n.*3395G>A)
c.3335G>A (p.Cys1112Tyr)
c.3389G>A (p.Cys1130Tyr)
c.1742G>A
c.*2711G>A (n.*2711G>A)
c.230+10011G>A
c.3419G>A (p.Cys1140Tyr)
c.3314G>A (p.Cys1105Tyr)
c.3305G>A (p.Cys1102Tyr)
c.3266G>A (p.Cys1089Tyr)
c.3212G>A (p.Cys1071Tyr)
c.3116G>A (p.Cys1039Tyr)
c.3086G>A (p.Cys1029Tyr)
c.3011G>A (p.Cys1004Tyr)
c.2909G>A (p.Cys970Tyr)
c.2540G>A (p.Cys847Tyr)
 ClinVar dbSNP
5g.112838983G>CCA16028757APCc.3054G>C (n.3054G>C)
c.3443G>C (p.Cys1148Ser)
c.*3395G>C (n.*3395G>C)
c.3335G>C (p.Cys1112Ser)
c.3389G>C (p.Cys1130Ser)
c.1742G>C
c.*2711G>C (n.*2711G>C)
c.230+10011G>C
c.3419G>C (p.Cys1140Ser)
c.3314G>C (p.Cys1105Ser)
c.3305G>C (p.Cys1102Ser)
c.3266G>C (p.Cys1089Ser)
c.3212G>C (p.Cys1071Ser)
c.3116G>C (p.Cys1039Ser)
c.3086G>C (p.Cys1029Ser)
c.3011G>C (p.Cys1004Ser)
c.2909G>C (p.Cys970Ser)
c.2540G>C (p.Cys847Ser)
 dbSNP
5g.112838983G>TCA16028758APCc.3054G>T (n.3054G>T)
c.3443G>T (p.Cys1148Phe)
c.*3395G>T (n.*3395G>T)
c.3335G>T (p.Cys1112Phe)
c.3389G>T (p.Cys1130Phe)
c.1742G>T
c.*2711G>T (n.*2711G>T)
c.230+10011G>T
c.3419G>T (p.Cys1140Phe)
c.3314G>T (p.Cys1105Phe)
c.3305G>T (p.Cys1102Phe)
c.3266G>T (p.Cys1089Phe)
c.3212G>T (p.Cys1071Phe)
c.3116G>T (p.Cys1039Phe)
c.3086G>T (p.Cys1029Phe)
c.3011G>T (p.Cys1004Phe)
c.2909G>T (p.Cys970Phe)
c.2540G>T (p.Cys847Phe)
 dbSNP
5g.112838984T>ACA16028759APCc.3055T>A (n.3055T>A)
c.3444T>A (p.Cys1148Ter)
c.*3396T>A (n.*3396T>A)
c.3336T>A (p.Cys1112Ter)
c.3390T>A (p.Cys1130Ter)
c.1743T>A
c.*2712T>A (n.*2712T>A)
c.230+10012T>A
c.3420T>A (p.Cys1140Ter)
c.3315T>A (p.Cys1105Ter)
c.3306T>A (p.Cys1102Ter)
c.3267T>A (p.Cys1089Ter)
c.3213T>A (p.Cys1071Ter)
c.3117T>A (p.Cys1039Ter)
c.3087T>A (p.Cys1029Ter)
c.3012T>A (p.Cys1004Ter)
c.2910T>A (p.Cys970Ter)
c.2541T>A (p.Cys847Ter)
 dbSNP
5g.112838984T>CCA445963780APCc.3055T>C (n.3055T>C)
c.3444T>C (p.Cys1148=)
c.*3396T>C (n.*3396T>C)
c.3336T>C (p.Cys1112=)
c.3390T>C (p.Cys1130=)
c.1743T>C
c.*2712T>C (n.*2712T>C)
c.230+10012T>C
c.3420T>C (p.Cys1140=)
c.3315T>C (p.Cys1105=)
c.3306T>C (p.Cys1102=)
c.3267T>C (p.Cys1089=)
c.3213T>C (p.Cys1071=)
c.3117T>C (p.Cys1039=)
c.3087T>C (p.Cys1029=)
c.3012T>C (p.Cys1004=)
c.2910T>C (p.Cys970=)
c.2541T>C (p.Cys847=)
 dbSNP gnomAD v4
5g.112838984T>GCA16028760APCc.3055T>G (n.3055T>G)
c.3444T>G (p.Cys1148Trp)
c.*3396T>G (n.*3396T>G)
c.3336T>G (p.Cys1112Trp)
c.3390T>G (p.Cys1130Trp)
c.1743T>G
c.*2712T>G (n.*2712T>G)
c.230+10012T>G
c.3420T>G (p.Cys1140Trp)
c.3315T>G (p.Cys1105Trp)
c.3306T>G (p.Cys1102Trp)
c.3267T>G (p.Cys1089Trp)
c.3213T>G (p.Cys1071Trp)
c.3117T>G (p.Cys1039Trp)
c.3087T>G (p.Cys1029Trp)
c.3012T>G (p.Cys1004Trp)
c.2910T>G (p.Cys970Trp)
c.2541T>G (p.Cys847Trp)
 dbSNP
5g.112838985C>ACA16028761APCc.3056C>A (n.3056C>A)
c.3445C>A (p.Gln1149Lys)
c.*3397C>A (n.*3397C>A)
c.3337C>A (p.Gln1113Lys)
c.3391C>A (p.Gln1131Lys)
c.1744C>A
c.*2713C>A (n.*2713C>A)
c.230+10013C>A
c.3421C>A (p.Gln1141Lys)
c.3316C>A (p.Gln1106Lys)
c.3307C>A (p.Gln1103Lys)
c.3268C>A (p.Gln1090Lys)
c.3214C>A (p.Gln1072Lys)
c.3118C>A (p.Gln1040Lys)
c.3088C>A (p.Gln1030Lys)
c.3013C>A (p.Gln1005Lys)
c.2911C>A (p.Gln971Lys)
c.2542C>A (p.Gln848Lys)
 dbSNP
5g.112838985C=CA1573488060APCc.3056C= (n.3056C=)
c.3445C= (p.Gln1149=)
c.*3397C= (n.*3397C=)
c.3337C= (p.Gln1113=)
c.3391C= (p.Gln1131=)
c.1744C=
c.*2713C= (n.*2713C=)
c.230+10013C=
c.3421C= (p.Gln1141=)
c.3316C= (p.Gln1106=)
c.3307C= (p.Gln1103=)
c.3268C= (p.Gln1090=)
c.3214C= (p.Gln1072=)
c.3118C= (p.Gln1040=)
c.3088C= (p.Gln1030=)
c.3013C= (p.Gln1005=)
c.2911C= (p.Gln971=)
c.2542C= (p.Gln848=)
5g.112838985C>GCA16028762APCc.3056C>G (n.3056C>G)
c.3445C>G (p.Gln1149Glu)
c.*3397C>G (n.*3397C>G)
c.3337C>G (p.Gln1113Glu)
c.3391C>G (p.Gln1131Glu)
c.1744C>G
c.*2713C>G (n.*2713C>G)
c.230+10013C>G
c.3421C>G (p.Gln1141Glu)
c.3316C>G (p.Gln1106Glu)
c.3307C>G (p.Gln1103Glu)
c.3268C>G (p.Gln1090Glu)
c.3214C>G (p.Gln1072Glu)
c.3118C>G (p.Gln1040Glu)
c.3088C>G (p.Gln1030Glu)
c.3013C>G (p.Gln1005Glu)
c.2911C>G (p.Gln971Glu)
c.2542C>G (p.Gln848Glu)
5g.112838985C>TCA10582307APCc.3056C>T (n.3056C>T)
c.3445C>T (p.Gln1149Ter)
c.*3397C>T (n.*3397C>T)
c.3337C>T (p.Gln1113Ter)
c.3391C>T (p.Gln1131Ter)
c.1744C>T
c.*2713C>T (n.*2713C>T)
c.230+10013C>T
c.3421C>T (p.Gln1141Ter)
c.3316C>T (p.Gln1106Ter)
c.3307C>T (p.Gln1103Ter)
c.3268C>T (p.Gln1090Ter)
c.3214C>T (p.Gln1072Ter)
c.3118C>T (p.Gln1040Ter)
c.3088C>T (p.Gln1030Ter)
c.3013C>T (p.Gln1005Ter)
c.2911C>T (p.Gln971Ter)
c.2542C>T (p.Gln848Ter)
 ClinVar dbSNP COSMIC
5g.112838985_112838988delinsCAAGCA1573488062APCc.3056_3059delinsCAAG (n.3056_3059delinsCAAG)
c.3445_3448delinsCAAG (p.Gln1149=)
c.*3397_*3400delinsCAAG (n.*3397_*3400delinsCAAG)
c.3337_3340delinsCAAG (p.Gln1113=)
c.3391_3394delinsCAAG (p.Gln1131=)
c.1744_1747delinsCAAG
c.*2713_*2716delinsCAAG (n.*2713_*2716delinsCAAG)
c.230+10013_230+10016delinsCAAG
c.3421_3424delinsCAAG (p.Gln1141=)
c.3316_3319delinsCAAG (p.Gln1106=)
c.3307_3310delinsCAAG (p.Gln1103=)
c.3268_3271delinsCAAG (p.Gln1090=)
c.3214_3217delinsCAAG (p.Gln1072=)
c.3118_3121delinsCAAG (p.Gln1040=)
c.3088_3091delinsCAAG (p.Gln1030=)
c.3013_3016delinsCAAG (p.Gln1005=)
c.2911_2914delinsCAAG (p.Gln971=)
c.2542_2545delinsCAAG (p.Gln848=)
5g.112838986A>CCA16028763APCc.3057A>C (n.3057A>C)
c.3446A>C (p.Gln1149Pro)
c.*3398A>C (n.*3398A>C)
c.3338A>C (p.Gln1113Pro)
c.3392A>C (p.Gln1131Pro)
c.1745A>C
c.*2714A>C (n.*2714A>C)
c.230+10014A>C
c.3422A>C (p.Gln1141Pro)
c.3317A>C (p.Gln1106Pro)
c.3308A>C (p.Gln1103Pro)
c.3269A>C (p.Gln1090Pro)
c.3215A>C (p.Gln1072Pro)
c.3119A>C (p.Gln1040Pro)
c.3089A>C (p.Gln1030Pro)
c.3014A>C (p.Gln1005Pro)
c.2912A>C (p.Gln971Pro)
c.2543A>C (p.Gln848Pro)
 ClinVar
5g.112838986A>GCA16028764APCc.3057A>G (n.3057A>G)
c.3446A>G (p.Gln1149Arg)
c.*3398A>G (n.*3398A>G)
c.3338A>G (p.Gln1113Arg)
c.3392A>G (p.Gln1131Arg)
c.1745A>G
c.*2714A>G (n.*2714A>G)
c.230+10014A>G
c.3422A>G (p.Gln1141Arg)
c.3317A>G (p.Gln1106Arg)
c.3308A>G (p.Gln1103Arg)
c.3269A>G (p.Gln1090Arg)
c.3215A>G (p.Gln1072Arg)
c.3119A>G (p.Gln1040Arg)
c.3089A>G (p.Gln1030Arg)
c.3014A>G (p.Gln1005Arg)
c.2912A>G (p.Gln971Arg)
c.2543A>G (p.Gln848Arg)
5g.112838986A>TCA16028765APCc.3057A>T (n.3057A>T)
c.3446A>T (p.Gln1149Leu)
c.*3398A>T (n.*3398A>T)
c.3338A>T (p.Gln1113Leu)
c.3392A>T (p.Gln1131Leu)
c.1745A>T
c.*2714A>T (n.*2714A>T)
c.230+10014A>T
c.3422A>T (p.Gln1141Leu)
c.3317A>T (p.Gln1106Leu)
c.3308A>T (p.Gln1103Leu)
c.3269A>T (p.Gln1090Leu)
c.3215A>T (p.Gln1072Leu)
c.3119A>T (p.Gln1040Leu)
c.3089A>T (p.Gln1030Leu)
c.3014A>T (p.Gln1005Leu)
c.2912A>T (p.Gln971Leu)
c.2543A>T (p.Gln848Leu)
 dbSNP
5g.112838990_112838992delCA658796580APCc.3061_3063del (n.3061_3063del)
c.3450_3452del (p.Glu1150del)
c.*3402_*3404del (n.*3402_*3404del)
c.3342_3344del (p.Glu1114del)
c.3396_3398del (p.Glu1132del)
c.1749_1751del
c.*2718_*2720del (n.*2718_*2720del)
c.230+10018_230+10020del
c.3426_3428del (p.Glu1142del)
c.3321_3323del (p.Glu1107del)
c.3312_3314del (p.Glu1104del)
c.3273_3275del (p.Glu1091del)
c.3219_3221del (p.Glu1073del)
c.3123_3125del (p.Glu1041del)
c.3093_3095del (p.Glu1031del)
c.3018_3020del (p.Glu1006del)
c.2916_2918del (p.Glu972del)
c.2547_2549del (p.Glu849del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838987A=CA1573488070APCc.3058A= (n.3058A=)
c.3447A= (p.Gln1149=)
c.*3399A= (n.*3399A=)
c.3339A= (p.Gln1113=)
c.3393A= (p.Gln1131=)
c.1746A=
c.*2715A= (n.*2715A=)
c.230+10015A=
c.3423A= (p.Gln1141=)
c.3318A= (p.Gln1106=)
c.3309A= (p.Gln1103=)
c.3270A= (p.Gln1090=)
c.3216A= (p.Gln1072=)
c.3120A= (p.Gln1040=)
c.3090A= (p.Gln1030=)
c.3015A= (p.Gln1005=)
c.2913A= (p.Gln971=)
c.2544A= (p.Gln848=)
5g.112838987A>CCA16028766APCc.3058A>C (n.3058A>C)
c.3447A>C (p.Gln1149His)
c.*3399A>C (n.*3399A>C)
c.3339A>C (p.Gln1113His)
c.3393A>C (p.Gln1131His)
c.1746A>C
c.*2715A>C (n.*2715A>C)
c.230+10015A>C
c.3423A>C (p.Gln1141His)
c.3318A>C (p.Gln1106His)
c.3309A>C (p.Gln1103His)
c.3270A>C (p.Gln1090His)
c.3216A>C (p.Gln1072His)
c.3120A>C (p.Gln1040His)
c.3090A>C (p.Gln1030His)
c.3015A>C (p.Gln1005His)
c.2913A>C (p.Gln971His)
c.2544A>C (p.Gln848His)
5g.112838987A>GCA16604746APCc.3058A>G (n.3058A>G)
c.3447A>G (p.Gln1149=)
c.*3399A>G (n.*3399A>G)
c.3339A>G (p.Gln1113=)
c.3393A>G (p.Gln1131=)
c.1746A>G
c.*2715A>G (n.*2715A>G)
c.230+10015A>G
c.3423A>G (p.Gln1141=)
c.3318A>G (p.Gln1106=)
c.3309A>G (p.Gln1103=)
c.3270A>G (p.Gln1090=)
c.3216A>G (p.Gln1072=)
c.3120A>G (p.Gln1040=)
c.3090A>G (p.Gln1030=)
c.3015A>G (p.Gln1005=)
c.2913A>G (p.Gln971=)
c.2544A>G (p.Gln848=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112838987A>TCA16028767APCc.3058A>T (n.3058A>T)
c.3447A>T (p.Gln1149His)
c.*3399A>T (n.*3399A>T)
c.3339A>T (p.Gln1113His)
c.3393A>T (p.Gln1131His)
c.1746A>T
c.*2715A>T (n.*2715A>T)
c.230+10015A>T
c.3423A>T (p.Gln1141His)
c.3318A>T (p.Gln1106His)
c.3309A>T (p.Gln1103His)
c.3270A>T (p.Gln1090His)
c.3216A>T (p.Gln1072His)
c.3120A>T (p.Gln1040His)
c.3090A>T (p.Gln1030His)
c.3015A>T (p.Gln1005His)
c.2913A>T (p.Gln971His)
c.2544A>T (p.Gln848His)
5g.112838988delCA658760913APCc.3059del (n.3059del)
c.3448del (p.Glu1150LysfsTer?)
c.*3400del (n.*3400del)
c.3340del (p.Glu1114LysfsTer?)
c.3394del (p.Glu1132LysfsTer?)
c.1747del
c.*2716del (n.*2716del)
c.230+10016del
c.3424del (p.Glu1142LysfsTer?)
c.3319del (p.Glu1107LysfsTer?)
c.3310del (p.Glu1104LysfsTer?)
c.3271del (p.Glu1091LysfsTer?)
c.3217del (p.Glu1073LysfsTer?)
c.3121del (p.Glu1041LysfsTer?)
c.3091del (p.Glu1031LysfsTer?)
c.3016del (p.Glu1006LysfsTer?)
c.2914del (p.Glu972LysfsTer?)
c.2545del (p.Glu849LysfsTer?)
5g.112838988G>ACA16028768APCc.3059G>A (n.3059G>A)
c.3448G>A (p.Glu1150Lys)
c.*3400G>A (n.*3400G>A)
c.3340G>A (p.Glu1114Lys)
c.3394G>A (p.Glu1132Lys)
c.1747G>A
c.*2716G>A (n.*2716G>A)
c.230+10016G>A
c.3424G>A (p.Glu1142Lys)
c.3319G>A (p.Glu1107Lys)
c.3310G>A (p.Glu1104Lys)
c.3271G>A (p.Glu1091Lys)
c.3217G>A (p.Glu1073Lys)
c.3121G>A (p.Glu1041Lys)
c.3091G>A (p.Glu1031Lys)
c.3016G>A (p.Glu1006Lys)
c.2914G>A (p.Glu972Lys)
c.2545G>A (p.Glu849Lys)
 ClinVar dbSNP COSMIC
5g.112838988G>CCA16028769APCc.3059G>C (n.3059G>C)
c.3448G>C (p.Glu1150Gln)
c.*3400G>C (n.*3400G>C)
c.3340G>C (p.Glu1114Gln)
c.3394G>C (p.Glu1132Gln)
c.1747G>C
c.*2716G>C (n.*2716G>C)
c.230+10016G>C
c.3424G>C (p.Glu1142Gln)
c.3319G>C (p.Glu1107Gln)
c.3310G>C (p.Glu1104Gln)
c.3271G>C (p.Glu1091Gln)
c.3217G>C (p.Glu1073Gln)
c.3121G>C (p.Glu1041Gln)
c.3091G>C (p.Glu1031Gln)
c.3016G>C (p.Glu1006Gln)
c.2914G>C (p.Glu972Gln)
c.2545G>C (p.Glu849Gln)
 dbSNP
5g.112838988G=CA1573488078APCc.3059G= (n.3059G=)
c.3448G= (p.Glu1150=)
c.*3400G= (n.*3400G=)
c.3340G= (p.Glu1114=)
c.3394G= (p.Glu1132=)
c.1747G=
c.*2716G= (n.*2716G=)
c.230+10016G=
c.3424G= (p.Glu1142=)
c.3319G= (p.Glu1107=)
c.3310G= (p.Glu1104=)
c.3271G= (p.Glu1091=)
c.3217G= (p.Glu1073=)
c.3121G= (p.Glu1041=)
c.3091G= (p.Glu1031=)
c.3016G= (p.Glu1006=)
c.2914G= (p.Glu972=)
c.2545G= (p.Glu849=)
5g.112838988G>TCA16028770APCc.3059G>T (n.3059G>T)
c.3448G>T (p.Glu1150Ter)
c.*3400G>T (n.*3400G>T)
c.3340G>T (p.Glu1114Ter)
c.3394G>T (p.Glu1132Ter)
c.1747G>T
c.*2716G>T (n.*2716G>T)
c.230+10016G>T
c.3424G>T (p.Glu1142Ter)
c.3319G>T (p.Glu1107Ter)
c.3310G>T (p.Glu1104Ter)
c.3271G>T (p.Glu1091Ter)
c.3217G>T (p.Glu1073Ter)
c.3121G>T (p.Glu1041Ter)
c.3091G>T (p.Glu1031Ter)
c.3016G>T (p.Glu1006Ter)
c.2914G>T (p.Glu972Ter)
c.2545G>T (p.Glu849Ter)
5g.112838989A>CCA16028771APCc.3060A>C (n.3060A>C)
c.3449A>C (p.Glu1150Ala)
c.*3401A>C (n.*3401A>C)
c.3341A>C (p.Glu1114Ala)
c.3395A>C (p.Glu1132Ala)
c.1748A>C
c.*2717A>C (n.*2717A>C)
c.230+10017A>C
c.3425A>C (p.Glu1142Ala)
c.3320A>C (p.Glu1107Ala)
c.3311A>C (p.Glu1104Ala)
c.3272A>C (p.Glu1091Ala)
c.3218A>C (p.Glu1073Ala)
c.3122A>C (p.Glu1041Ala)
c.3092A>C (p.Glu1031Ala)
c.3017A>C (p.Glu1006Ala)
c.2915A>C (p.Glu972Ala)
c.2546A>C (p.Glu849Ala)
5g.112838989A>GCA16028772APCc.3060A>G (n.3060A>G)
c.3449A>G (p.Glu1150Gly)
c.*3401A>G (n.*3401A>G)
c.3341A>G (p.Glu1114Gly)
c.3395A>G (p.Glu1132Gly)
c.1748A>G
c.*2717A>G (n.*2717A>G)
c.230+10017A>G
c.3425A>G (p.Glu1142Gly)
c.3320A>G (p.Glu1107Gly)
c.3311A>G (p.Glu1104Gly)
c.3272A>G (p.Glu1091Gly)
c.3218A>G (p.Glu1073Gly)
c.3122A>G (p.Glu1041Gly)
c.3092A>G (p.Glu1031Gly)
c.3017A>G (p.Glu1006Gly)
c.2915A>G (p.Glu972Gly)
c.2546A>G (p.Glu849Gly)
5g.112838989A>TCA16028773APCc.3060A>T (n.3060A>T)
c.3449A>T (p.Glu1150Val)
c.*3401A>T (n.*3401A>T)
c.3341A>T (p.Glu1114Val)
c.3395A>T (p.Glu1132Val)
c.1748A>T
c.*2717A>T (n.*2717A>T)
c.230+10017A>T
c.3425A>T (p.Glu1142Val)
c.3320A>T (p.Glu1107Val)
c.3311A>T (p.Glu1104Val)
c.3272A>T (p.Glu1091Val)
c.3218A>T (p.Glu1073Val)
c.3122A>T (p.Glu1041Val)
c.3092A>T (p.Glu1031Val)
c.3017A>T (p.Glu1006Val)
c.2915A>T (p.Glu972Val)
c.2546A>T (p.Glu849Val)
 dbSNP gnomAD v4
5g.112838990A=CA1573488083APCc.3061A= (n.3061A=)
c.3450A= (p.Glu1150=)
c.*3402A= (n.*3402A=)
c.3342A= (p.Glu1114=)
c.3396A= (p.Glu1132=)
c.1749A=
c.*2718A= (n.*2718A=)
c.230+10018A=
c.3426A= (p.Glu1142=)
c.3321A= (p.Glu1107=)
c.3312A= (p.Glu1104=)
c.3273A= (p.Glu1091=)
c.3219A= (p.Glu1073=)
c.3123A= (p.Glu1041=)
c.3093A= (p.Glu1031=)
c.3018A= (p.Glu1006=)
c.2916A= (p.Glu972=)
c.2547A= (p.Glu849=)
5g.112838990A>CCA16028774APCc.3061A>C (n.3061A>C)
c.3450A>C (p.Glu1150Asp)
c.*3402A>C (n.*3402A>C)
c.3342A>C (p.Glu1114Asp)
c.3396A>C (p.Glu1132Asp)
c.1749A>C
c.*2718A>C (n.*2718A>C)
c.230+10018A>C
c.3426A>C (p.Glu1142Asp)
c.3321A>C (p.Glu1107Asp)
c.3312A>C (p.Glu1104Asp)
c.3273A>C (p.Glu1091Asp)
c.3219A>C (p.Glu1073Asp)
c.3123A>C (p.Glu1041Asp)
c.3093A>C (p.Glu1031Asp)
c.3018A>C (p.Glu1006Asp)
c.2916A>C (p.Glu972Asp)
c.2547A>C (p.Glu849Asp)
5g.112838990A>GCA445963786APCc.3061A>G (n.3061A>G)
c.3450A>G (p.Glu1150=)
c.*3402A>G (n.*3402A>G)
c.3342A>G (p.Glu1114=)
c.3396A>G (p.Glu1132=)
c.1749A>G
c.*2718A>G (n.*2718A>G)
c.230+10018A>G
c.3426A>G (p.Glu1142=)
c.3321A>G (p.Glu1107=)
c.3312A>G (p.Glu1104=)
c.3273A>G (p.Glu1091=)
c.3219A>G (p.Glu1073=)
c.3123A>G (p.Glu1041=)
c.3093A>G (p.Glu1031=)
c.3018A>G (p.Glu1006=)
c.2916A>G (p.Glu972=)
c.2547A>G (p.Glu849=)
 ClinVar dbSNP gnomAD v4
5g.112838990A>TCA16028775APCc.3061A>T (n.3061A>T)
c.3450A>T (p.Glu1150Asp)
c.*3402A>T (n.*3402A>T)
c.3342A>T (p.Glu1114Asp)
c.3396A>T (p.Glu1132Asp)
c.1749A>T
c.*2718A>T (n.*2718A>T)
c.230+10018A>T
c.3426A>T (p.Glu1142Asp)
c.3321A>T (p.Glu1107Asp)
c.3312A>T (p.Glu1104Asp)
c.3273A>T (p.Glu1091Asp)
c.3219A>T (p.Glu1073Asp)
c.3123A>T (p.Glu1041Asp)
c.3093A>T (p.Glu1031Asp)
c.3018A>T (p.Glu1006Asp)
c.2916A>T (p.Glu972Asp)
c.2547A>T (p.Glu849Asp)
 ClinVar dbSNP
5g.112838991G>ACA16028776APCc.3062G>A (n.3062G>A)
c.3451G>A (p.Asp1151Asn)
c.*3403G>A (n.*3403G>A)
c.3343G>A (p.Asp1115Asn)
c.3397G>A (p.Asp1133Asn)
c.1750G>A
c.*2719G>A (n.*2719G>A)
c.230+10019G>A
c.3427G>A (p.Asp1143Asn)
c.3322G>A (p.Asp1108Asn)
c.3313G>A (p.Asp1105Asn)
c.3274G>A (p.Asp1092Asn)
c.3220G>A (p.Asp1074Asn)
c.3124G>A (p.Asp1042Asn)
c.3094G>A (p.Asp1032Asn)
c.3019G>A (p.Asp1007Asn)
c.2917G>A (p.Asp973Asn)
c.2548G>A (p.Asp850Asn)
 ClinVar dbSNP
5g.112838991G>CCA16028777APCc.3062G>C (n.3062G>C)
c.3451G>C (p.Asp1151His)
c.*3403G>C (n.*3403G>C)
c.3343G>C (p.Asp1115His)
c.3397G>C (p.Asp1133His)
c.1750G>C
c.*2719G>C (n.*2719G>C)
c.230+10019G>C
c.3427G>C (p.Asp1143His)
c.3322G>C (p.Asp1108His)
c.3313G>C (p.Asp1105His)
c.3274G>C (p.Asp1092His)
c.3220G>C (p.Asp1074His)
c.3124G>C (p.Asp1042His)
c.3094G>C (p.Asp1032His)
c.3019G>C (p.Asp1007His)
c.2917G>C (p.Asp973His)
c.2548G>C (p.Asp850His)
 dbSNP
5g.112838991G=CA1573488089APCc.3062G= (n.3062G=)
c.3451G= (p.Asp1151=)
c.*3403G= (n.*3403G=)
c.3343G= (p.Asp1115=)
c.3397G= (p.Asp1133=)
c.1750G=
c.*2719G= (n.*2719G=)
c.230+10019G=
c.3427G= (p.Asp1143=)
c.3322G= (p.Asp1108=)
c.3313G= (p.Asp1105=)
c.3274G= (p.Asp1092=)
c.3220G= (p.Asp1074=)
c.3124G= (p.Asp1042=)
c.3094G= (p.Asp1032=)
c.3019G= (p.Asp1007=)
c.2917G= (p.Asp973=)
c.2548G= (p.Asp850=)
5g.112838991G>TCA16028778APCc.3062G>T (n.3062G>T)
c.3451G>T (p.Asp1151Tyr)
c.*3403G>T (n.*3403G>T)
c.3343G>T (p.Asp1115Tyr)
c.3397G>T (p.Asp1133Tyr)
c.1750G>T
c.*2719G>T (n.*2719G>T)
c.230+10019G>T
c.3427G>T (p.Asp1143Tyr)
c.3322G>T (p.Asp1108Tyr)
c.3313G>T (p.Asp1105Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3124G>T (p.Asp1042Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2917G>T (p.Asp973Tyr)
c.2548G>T (p.Asp850Tyr)
 dbSNP
5g.112838991_112838994dupCA658760914APCc.3062_3065dup (n.3062_3065dup)
c.3451_3454dup (p.Asp1152GlyfsTer2)
c.*3403_*3406dup (n.*3403_*3406dup)
c.3343_3346dup (p.Asp1116GlyfsTer2)
c.3397_3400dup (p.Asp1134GlyfsTer2)
c.1750_1753dup
c.*2719_*2722dup (n.*2719_*2722dup)
c.230+10019_230+10022dup
c.3427_3430dup (p.Asp1144GlyfsTer2)
c.3322_3325dup (p.Asp1109GlyfsTer2)
c.3313_3316dup (p.Asp1106GlyfsTer2)
c.3274_3277dup (p.Asp1093GlyfsTer2)
c.3220_3223dup (p.Asp1075GlyfsTer2)
c.3124_3127dup (p.Asp1043GlyfsTer2)
c.3094_3097dup (p.Asp1033GlyfsTer2)
c.3019_3022dup (p.Asp1008GlyfsTer2)
c.2917_2920dup (p.Asp974GlyfsTer2)
c.2548_2551dup (p.Asp851GlyfsTer2)
5g.112838992A=CA1573488100APCc.3063A= (n.3063A=)
c.3452A= (p.Asp1151=)
c.*3404A= (n.*3404A=)
c.3344A= (p.Asp1115=)
c.3398A= (p.Asp1133=)
c.1751A=
c.*2720A= (n.*2720A=)
c.230+10020A=
c.3428A= (p.Asp1143=)
c.3323A= (p.Asp1108=)
c.3314A= (p.Asp1105=)
c.3275A= (p.Asp1092=)
c.3221A= (p.Asp1074=)
c.3125A= (p.Asp1042=)
c.3095A= (p.Asp1032=)
c.3020A= (p.Asp1007=)
c.2918A= (p.Asp973=)
c.2549A= (p.Asp850=)
5g.112838992A>CCA16028779APCc.3063A>C (n.3063A>C)
c.3452A>C (p.Asp1151Ala)
c.*3404A>C (n.*3404A>C)
c.3344A>C (p.Asp1115Ala)
c.3398A>C (p.Asp1133Ala)
c.1751A>C
c.*2720A>C (n.*2720A>C)
c.230+10020A>C
c.3428A>C (p.Asp1143Ala)
c.3323A>C (p.Asp1108Ala)
c.3314A>C (p.Asp1105Ala)
c.3275A>C (p.Asp1092Ala)
c.3221A>C (p.Asp1074Ala)
c.3125A>C (p.Asp1042Ala)
c.3095A>C (p.Asp1032Ala)
c.3020A>C (p.Asp1007Ala)
c.2918A>C (p.Asp973Ala)
c.2549A>C (p.Asp850Ala)
5g.112838992A>GCA16028780APCc.3063A>G (n.3063A>G)
c.3452A>G (p.Asp1151Gly)
c.*3404A>G (n.*3404A>G)
c.3344A>G (p.Asp1115Gly)
c.3398A>G (p.Asp1133Gly)
c.1751A>G
c.*2720A>G (n.*2720A>G)
c.230+10020A>G
c.3428A>G (p.Asp1143Gly)
c.3323A>G (p.Asp1108Gly)
c.3314A>G (p.Asp1105Gly)
c.3275A>G (p.Asp1092Gly)
c.3221A>G (p.Asp1074Gly)
c.3125A>G (p.Asp1042Gly)
c.3095A>G (p.Asp1032Gly)
c.3020A>G (p.Asp1007Gly)
c.2918A>G (p.Asp973Gly)
c.2549A>G (p.Asp850Gly)
 ClinVar dbSNP
5g.112838992A>TCA16028781APCc.3063A>T (n.3063A>T)
c.3452A>T (p.Asp1151Val)
c.*3404A>T (n.*3404A>T)
c.3344A>T (p.Asp1115Val)
c.3398A>T (p.Asp1133Val)
c.1751A>T
c.*2720A>T (n.*2720A>T)
c.230+10020A>T
c.3428A>T (p.Asp1143Val)
c.3323A>T (p.Asp1108Val)
c.3314A>T (p.Asp1105Val)
c.3275A>T (p.Asp1092Val)
c.3221A>T (p.Asp1074Val)
c.3125A>T (p.Asp1042Val)
c.3095A>T (p.Asp1032Val)
c.3020A>T (p.Asp1007Val)
c.2918A>T (p.Asp973Val)
c.2549A>T (p.Asp850Val)
 ClinVar dbSNP
5g.112838993T>ACA16028782APCc.3064T>A (n.3064T>A)
c.3453T>A (p.Asp1151Glu)
c.*3405T>A (n.*3405T>A)
c.3345T>A (p.Asp1115Glu)
c.3399T>A (p.Asp1133Glu)
c.1752T>A
c.*2721T>A (n.*2721T>A)
c.230+10021T>A
c.3429T>A (p.Asp1143Glu)
c.3324T>A (p.Asp1108Glu)
c.3315T>A (p.Asp1105Glu)
c.3276T>A (p.Asp1092Glu)
c.3222T>A (p.Asp1074Glu)
c.3126T>A (p.Asp1042Glu)
c.3096T>A (p.Asp1032Glu)
c.3021T>A (p.Asp1007Glu)
c.2919T>A (p.Asp973Glu)
c.2550T>A (p.Asp850Glu)
 ClinVar dbSNP gnomAD v4
5g.112838993T>CCA445963788APCc.3064T>C (n.3064T>C)
c.3453T>C (p.Asp1151=)
c.*3405T>C (n.*3405T>C)
c.3345T>C (p.Asp1115=)
c.3399T>C (p.Asp1133=)
c.1752T>C
c.*2721T>C (n.*2721T>C)
c.230+10021T>C
c.3429T>C (p.Asp1143=)
c.3324T>C (p.Asp1108=)
c.3315T>C (p.Asp1105=)
c.3276T>C (p.Asp1092=)
c.3222T>C (p.Asp1074=)
c.3126T>C (p.Asp1042=)
c.3096T>C (p.Asp1032=)
c.3021T>C (p.Asp1007=)
c.2919T>C (p.Asp973=)
c.2550T>C (p.Asp850=)
 ClinVar
5g.112838993T>GCA16028783APCc.3064T>G (n.3064T>G)
c.3453T>G (p.Asp1151Glu)
c.*3405T>G (n.*3405T>G)
c.3345T>G (p.Asp1115Glu)
c.3399T>G (p.Asp1133Glu)
c.1752T>G
c.*2721T>G (n.*2721T>G)
c.230+10021T>G
c.3429T>G (p.Asp1143Glu)
c.3324T>G (p.Asp1108Glu)
c.3315T>G (p.Asp1105Glu)
c.3276T>G (p.Asp1092Glu)
c.3222T>G (p.Asp1074Glu)
c.3126T>G (p.Asp1042Glu)
c.3096T>G (p.Asp1032Glu)
c.3021T>G (p.Asp1007Glu)
c.2919T>G (p.Asp973Glu)
c.2550T>G (p.Asp850Glu)
 dbSNP
5g.112838993T=CA1573488111APCc.3064T= (n.3064T=)
c.3453T= (p.Asp1151=)
c.*3405T= (n.*3405T=)
c.3345T= (p.Asp1115=)
c.3399T= (p.Asp1133=)
c.1752T=
c.*2721T= (n.*2721T=)
c.230+10021T=
c.3429T= (p.Asp1143=)
c.3324T= (p.Asp1108=)
c.3315T= (p.Asp1105=)
c.3276T= (p.Asp1092=)
c.3222T= (p.Asp1074=)
c.3126T= (p.Asp1042=)
c.3096T= (p.Asp1032=)
c.3021T= (p.Asp1007=)
c.2919T= (p.Asp973=)
c.2550T= (p.Asp850=)
5g.112838994G>ACA16028784APCc.3065G>A (n.3065G>A)
c.3454G>A (p.Asp1152Asn)
c.*3406G>A (n.*3406G>A)
c.3346G>A (p.Asp1116Asn)
c.3400G>A (p.Asp1134Asn)
c.1753G>A
c.*2722G>A (n.*2722G>A)
c.230+10022G>A
c.3430G>A (p.Asp1144Asn)
c.3325G>A (p.Asp1109Asn)
c.3316G>A (p.Asp1106Asn)
c.3277G>A (p.Asp1093Asn)
c.3223G>A (p.Asp1075Asn)
c.3127G>A (p.Asp1043Asn)
c.3097G>A (p.Asp1033Asn)
c.3022G>A (p.Asp1008Asn)
c.2920G>A (p.Asp974Asn)
c.2551G>A (p.Asp851Asn)
 ClinVar dbSNP gnomAD v4
5g.112838994G>CCA16028785APCc.3065G>C (n.3065G>C)
c.3454G>C (p.Asp1152His)
c.*3406G>C (n.*3406G>C)
c.3346G>C (p.Asp1116His)
c.3400G>C (p.Asp1134His)
c.1753G>C
c.*2722G>C (n.*2722G>C)
c.230+10022G>C
c.3430G>C (p.Asp1144His)
c.3325G>C (p.Asp1109His)
c.3316G>C (p.Asp1106His)
c.3277G>C (p.Asp1093His)
c.3223G>C (p.Asp1075His)
c.3127G>C (p.Asp1043His)
c.3097G>C (p.Asp1033His)
c.3022G>C (p.Asp1008His)
c.2920G>C (p.Asp974His)
c.2551G>C (p.Asp851His)
 dbSNP COSMIC
5g.112838994G=CA1573488117APCc.3065G= (n.3065G=)
c.3454G= (p.Asp1152=)
c.*3406G= (n.*3406G=)
c.3346G= (p.Asp1116=)
c.3400G= (p.Asp1134=)
c.1753G=
c.*2722G= (n.*2722G=)
c.230+10022G=
c.3430G= (p.Asp1144=)
c.3325G= (p.Asp1109=)
c.3316G= (p.Asp1106=)
c.3277G= (p.Asp1093=)
c.3223G= (p.Asp1075=)
c.3127G= (p.Asp1043=)
c.3097G= (p.Asp1033=)
c.3022G= (p.Asp1008=)
c.2920G= (p.Asp974=)
c.2551G= (p.Asp851=)
5g.112838994G>TCA16028786APCc.3065G>T (n.3065G>T)
c.3454G>T (p.Asp1152Tyr)
c.*3406G>T (n.*3406G>T)
c.3346G>T (p.Asp1116Tyr)
c.3400G>T (p.Asp1134Tyr)
c.1753G>T
c.*2722G>T (n.*2722G>T)
c.230+10022G>T
c.3430G>T (p.Asp1144Tyr)
c.3325G>T (p.Asp1109Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3277G>T (p.Asp1093Tyr)
c.3223G>T (p.Asp1075Tyr)
c.3127G>T (p.Asp1043Tyr)
c.3097G>T (p.Asp1033Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2920G>T (p.Asp974Tyr)
c.2551G>T (p.Asp851Tyr)
 dbSNP COSMIC
5g.112838995A=CA1573488128APCc.3066A= (n.3066A=)
c.3455A= (p.Asp1152=)
c.*3407A= (n.*3407A=)
c.3347A= (p.Asp1116=)
c.3401A= (p.Asp1134=)
c.1754A=
c.*2723A= (n.*2723A=)
c.230+10023A=
c.3431A= (p.Asp1144=)
c.3326A= (p.Asp1109=)
c.3317A= (p.Asp1106=)
c.3278A= (p.Asp1093=)
c.3224A= (p.Asp1075=)
c.3128A= (p.Asp1043=)
c.3098A= (p.Asp1033=)
c.3023A= (p.Asp1008=)
c.2921A= (p.Asp974=)
c.2552A= (p.Asp851=)
5g.112838995A>CCA16028787APCc.3066A>C (n.3066A>C)
c.3455A>C (p.Asp1152Ala)
c.*3407A>C (n.*3407A>C)
c.3347A>C (p.Asp1116Ala)
c.3401A>C (p.Asp1134Ala)
c.1754A>C
c.*2723A>C (n.*2723A>C)
c.230+10023A>C
c.3431A>C (p.Asp1144Ala)
c.3326A>C (p.Asp1109Ala)
c.3317A>C (p.Asp1106Ala)
c.3278A>C (p.Asp1093Ala)
c.3224A>C (p.Asp1075Ala)
c.3128A>C (p.Asp1043Ala)
c.3098A>C (p.Asp1033Ala)
c.3023A>C (p.Asp1008Ala)
c.2921A>C (p.Asp974Ala)
c.2552A>C (p.Asp851Ala)
 dbSNP
5g.112838995A>GCA16028788APCc.3066A>G (n.3066A>G)
c.3455A>G (p.Asp1152Gly)
c.*3407A>G (n.*3407A>G)
c.3347A>G (p.Asp1116Gly)
c.3401A>G (p.Asp1134Gly)
c.1754A>G
c.*2723A>G (n.*2723A>G)
c.230+10023A>G
c.3431A>G (p.Asp1144Gly)
c.3326A>G (p.Asp1109Gly)
c.3317A>G (p.Asp1106Gly)
c.3278A>G (p.Asp1093Gly)
c.3224A>G (p.Asp1075Gly)
c.3128A>G (p.Asp1043Gly)
c.3098A>G (p.Asp1033Gly)
c.3023A>G (p.Asp1008Gly)
c.2921A>G (p.Asp974Gly)
c.2552A>G (p.Asp851Gly)
 ClinVar dbSNP gnomAD v4
5g.112838995A>TCA16028789APCc.3066A>T (n.3066A>T)
c.3455A>T (p.Asp1152Val)
c.*3407A>T (n.*3407A>T)
c.3347A>T (p.Asp1116Val)
c.3401A>T (p.Asp1134Val)
c.1754A>T
c.*2723A>T (n.*2723A>T)
c.230+10023A>T
c.3431A>T (p.Asp1144Val)
c.3326A>T (p.Asp1109Val)
c.3317A>T (p.Asp1106Val)
c.3278A>T (p.Asp1093Val)
c.3224A>T (p.Asp1075Val)
c.3128A>T (p.Asp1043Val)
c.3098A>T (p.Asp1033Val)
c.3023A>T (p.Asp1008Val)
c.2921A>T (p.Asp974Val)
c.2552A>T (p.Asp851Val)
 dbSNP
5g.112838996C>ACA16028790APCc.3067C>A (n.3067C>A)
c.3456C>A (p.Asp1152Glu)
c.*3408C>A (n.*3408C>A)
c.3348C>A (p.Asp1116Glu)
c.3402C>A (p.Asp1134Glu)
c.1755C>A
c.*2724C>A (n.*2724C>A)
c.230+10024C>A
c.3432C>A (p.Asp1144Glu)
c.3327C>A (p.Asp1109Glu)
c.3318C>A (p.Asp1106Glu)
c.3279C>A (p.Asp1093Glu)
c.3225C>A (p.Asp1075Glu)
c.3129C>A (p.Asp1043Glu)
c.3099C>A (p.Asp1033Glu)
c.3024C>A (p.Asp1008Glu)
c.2922C>A (p.Asp974Glu)
c.2553C>A (p.Asp851Glu)
 dbSNP
5g.112838996C=CA1573488134APCc.3067C= (n.3067C=)
c.3456C= (p.Asp1152=)
c.*3408C= (n.*3408C=)
c.3348C= (p.Asp1116=)
c.3402C= (p.Asp1134=)
c.1755C=
c.*2724C= (n.*2724C=)
c.230+10024C=
c.3432C= (p.Asp1144=)
c.3327C= (p.Asp1109=)
c.3318C= (p.Asp1106=)
c.3279C= (p.Asp1093=)
c.3225C= (p.Asp1075=)
c.3129C= (p.Asp1043=)
c.3099C= (p.Asp1033=)
c.3024C= (p.Asp1008=)
c.2922C= (p.Asp974=)
c.2553C= (p.Asp851=)
5g.112838996C>GCA035222APCc.3067C>G (n.3067C>G)
c.3456C>G (p.Asp1152Glu)
c.*3408C>G (n.*3408C>G)
c.3348C>G (p.Asp1116Glu)
c.3402C>G (p.Asp1134Glu)
c.1755C>G
c.*2724C>G (n.*2724C>G)
c.230+10024C>G
c.3432C>G (p.Asp1144Glu)
c.3327C>G (p.Asp1109Glu)
c.3318C>G (p.Asp1106Glu)
c.3279C>G (p.Asp1093Glu)
c.3225C>G (p.Asp1075Glu)
c.3129C>G (p.Asp1043Glu)
c.3099C>G (p.Asp1033Glu)
c.3024C>G (p.Asp1008Glu)
c.2922C>G (p.Asp974Glu)
c.2553C>G (p.Asp851Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112838996C>TCA445963792APCc.3067C>T (n.3067C>T)
c.3456C>T (p.Asp1152=)
c.*3408C>T (n.*3408C>T)
c.3348C>T (p.Asp1116=)
c.3402C>T (p.Asp1134=)
c.1755C>T
c.*2724C>T (n.*2724C>T)
c.230+10024C>T
c.3432C>T (p.Asp1144=)
c.3327C>T (p.Asp1109=)
c.3318C>T (p.Asp1106=)
c.3279C>T (p.Asp1093=)
c.3225C>T (p.Asp1075=)
c.3129C>T (p.Asp1043=)
c.3099C>T (p.Asp1033=)
c.3024C>T (p.Asp1008=)
c.2922C>T (p.Asp974=)
c.2553C>T (p.Asp851=)
 dbSNP
5g.112838996_112838998delinsCTACA1573488138APCc.3067_3069delinsCTA (n.3067_3069delinsCTA)
c.3456_3458delinsCTA (p.Asp1152=)
c.*3408_*3410delinsCTA (n.*3408_*3410delinsCTA)
c.3348_3350delinsCTA (p.Asp1116=)
c.3402_3404delinsCTA (p.Asp1134=)
c.1755_1757delinsCTA
c.*2724_*2726delinsCTA (n.*2724_*2726delinsCTA)
c.230+10024_230+10026delinsCTA
c.3432_3434delinsCTA (p.Asp1144=)
c.3327_3329delinsCTA (p.Asp1109=)
c.3318_3320delinsCTA (p.Asp1106=)
c.3279_3281delinsCTA (p.Asp1093=)
c.3225_3227delinsCTA (p.Asp1075=)
c.3129_3131delinsCTA (p.Asp1043=)
c.3099_3101delinsCTA (p.Asp1033=)
c.3024_3026delinsCTA (p.Asp1008=)
c.2922_2924delinsCTA (p.Asp974=)
c.2553_2555delinsCTA (p.Asp851=)
5g.112838997T>ACA16028791APCc.3068T>A (n.3068T>A)
c.3457T>A (p.Tyr1153Asn)
c.*3409T>A (n.*3409T>A)
c.3349T>A (p.Tyr1117Asn)
c.3403T>A (p.Tyr1135Asn)
c.1756T>A
c.*2725T>A (n.*2725T>A)
c.230+10025T>A
c.3433T>A (p.Tyr1145Asn)
c.3328T>A (p.Tyr1110Asn)
c.3319T>A (p.Tyr1107Asn)
c.3280T>A (p.Tyr1094Asn)
c.3226T>A (p.Tyr1076Asn)
c.3130T>A (p.Tyr1044Asn)
c.3100T>A (p.Tyr1034Asn)
c.3025T>A (p.Tyr1009Asn)
c.2923T>A (p.Tyr975Asn)
c.2554T>A (p.Tyr852Asn)
5g.112838997T>CCA10578353APCc.3068T>C (n.3068T>C)
c.3457T>C (p.Tyr1153His)
c.*3409T>C (n.*3409T>C)
c.3349T>C (p.Tyr1117His)
c.3403T>C (p.Tyr1135His)
c.1756T>C
c.*2725T>C (n.*2725T>C)
c.230+10025T>C
c.3433T>C (p.Tyr1145His)
c.3328T>C (p.Tyr1110His)
c.3319T>C (p.Tyr1107His)
c.3280T>C (p.Tyr1094His)
c.3226T>C (p.Tyr1076His)
c.3130T>C (p.Tyr1044His)
c.3100T>C (p.Tyr1034His)
c.3025T>C (p.Tyr1009His)
c.2923T>C (p.Tyr975His)
c.2554T>C (p.Tyr852His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112838997T>GCA16028792APCc.3068T>G (n.3068T>G)
c.3457T>G (p.Tyr1153Asp)
c.*3409T>G (n.*3409T>G)
c.3349T>G (p.Tyr1117Asp)
c.3403T>G (p.Tyr1135Asp)
c.1756T>G
c.*2725T>G (n.*2725T>G)
c.230+10025T>G
c.3433T>G (p.Tyr1145Asp)
c.3328T>G (p.Tyr1110Asp)
c.3319T>G (p.Tyr1107Asp)
c.3280T>G (p.Tyr1094Asp)
c.3226T>G (p.Tyr1076Asp)
c.3130T>G (p.Tyr1044Asp)
c.3100T>G (p.Tyr1034Asp)
c.3025T>G (p.Tyr1009Asp)
c.2923T>G (p.Tyr975Asp)
c.2554T>G (p.Tyr852Asp)
5g.112838997T=CA1573488152APCc.3068T= (n.3068T=)
c.3457T= (p.Tyr1153=)
c.*3409T= (n.*3409T=)
c.3349T= (p.Tyr1117=)
c.3403T= (p.Tyr1135=)
c.1756T=
c.*2725T= (n.*2725T=)
c.230+10025T=
c.3433T= (p.Tyr1145=)
c.3328T= (p.Tyr1110=)
c.3319T= (p.Tyr1107=)
c.3280T= (p.Tyr1094=)
c.3226T= (p.Tyr1076=)
c.3130T= (p.Tyr1044=)
c.3100T= (p.Tyr1034=)
c.3025T= (p.Tyr1009=)
c.2923T= (p.Tyr975=)
c.2554T= (p.Tyr852=)
5g.112838997dupCA658760916APCc.3068dup (n.3068dup)
c.3457dup (p.Tyr1153LeufsTer2)
c.*3409dup (n.*3409dup)
c.3349dup (p.Tyr1117LeufsTer2)
c.3403dup (p.Tyr1135LeufsTer2)
c.1756dup
c.*2725dup (n.*2725dup)
c.230+10025dup
c.3433dup (p.Tyr1145LeufsTer2)
c.3328dup (p.Tyr1110LeufsTer2)
c.3319dup (p.Tyr1107LeufsTer2)
c.3280dup (p.Tyr1094LeufsTer2)
c.3226dup (p.Tyr1076LeufsTer2)
c.3130dup (p.Tyr1044LeufsTer2)
c.3100dup (p.Tyr1034LeufsTer2)
c.3025dup (p.Tyr1009LeufsTer2)
c.2923dup (p.Tyr975LeufsTer2)
c.2554dup (p.Tyr852LeufsTer2)
5g.112838998_112838999dupCA2582341512APCc.3069_3070dup (n.3069_3070dup)
c.3458_3459dup (p.Glu1154MetfsTer30)
c.*3410_*3411dup (n.*3410_*3411dup)
c.3350_3351dup (p.Glu1118MetfsTer30)
c.3404_3405dup (p.Glu1136MetfsTer30)
c.1757_1758dup
c.3350_3351dup (p.Glu1118MetfsTer?)
c.*2726_*2727dup (n.*2726_*2727dup)
c.230+10026_230+10027dup
c.3434_3435dup (p.Glu1146MetfsTer30)
c.3329_3330dup (p.Glu1111MetfsTer30)
c.3320_3321dup (p.Glu1108MetfsTer30)
c.3281_3282dup (p.Glu1095MetfsTer30)
c.3227_3228dup (p.Glu1077MetfsTer30)
c.3131_3132dup (p.Glu1045MetfsTer30)
c.3101_3102dup (p.Glu1035MetfsTer30)
c.3026_3027dup (p.Glu1010MetfsTer30)
c.2924_2925dup (p.Glu976MetfsTer30)
c.2555_2556dup (p.Glu853MetfsTer30)
 ClinVar
5g.112838998_112838999delCA350349APCc.3069_3070del (n.3069_3070del)
c.3458_3459del (p.Tyr1153Ter)
c.*3410_*3411del (n.*3410_*3411del)
c.3350_3351del (p.Tyr1117Ter)
c.3404_3405del (p.Tyr1135Ter)
c.1757_1758del
c.*2726_*2727del (n.*2726_*2727del)
c.230+10026_230+10027del
c.3434_3435del (p.Tyr1145Ter)
c.3329_3330del (p.Tyr1110Ter)
c.3320_3321del (p.Tyr1107Ter)
c.3281_3282del (p.Tyr1094Ter)
c.3227_3228del (p.Tyr1076Ter)
c.3131_3132del (p.Tyr1044Ter)
c.3101_3102del (p.Tyr1034Ter)
c.3026_3027del (p.Tyr1009Ter)
c.2924_2925del (p.Tyr975Ter)
c.2555_2556del (p.Tyr852Ter)
 ClinVar dbSNP
5g.112838998A=CA1573488157APCc.3069A= (n.3069A=)
c.3458A= (p.Tyr1153=)
c.*3410A= (n.*3410A=)
c.3350A= (p.Tyr1117=)
c.3404A= (p.Tyr1135=)
c.1757A=
c.*2726A= (n.*2726A=)
c.230+10026A=
c.3434A= (p.Tyr1145=)
c.3329A= (p.Tyr1110=)
c.3320A= (p.Tyr1107=)
c.3281A= (p.Tyr1094=)
c.3227A= (p.Tyr1076=)
c.3131A= (p.Tyr1044=)
c.3101A= (p.Tyr1034=)
c.3026A= (p.Tyr1009=)
c.2924A= (p.Tyr975=)
c.2555A= (p.Tyr852=)
5g.112838998A>CCA16028793APCc.3069A>C (n.3069A>C)
c.3458A>C (p.Tyr1153Ser)
c.*3410A>C (n.*3410A>C)
c.3350A>C (p.Tyr1117Ser)
c.3404A>C (p.Tyr1135Ser)
c.1757A>C
c.*2726A>C (n.*2726A>C)
c.230+10026A>C
c.3434A>C (p.Tyr1145Ser)
c.3329A>C (p.Tyr1110Ser)
c.3320A>C (p.Tyr1107Ser)
c.3281A>C (p.Tyr1094Ser)
c.3227A>C (p.Tyr1076Ser)
c.3131A>C (p.Tyr1044Ser)
c.3101A>C (p.Tyr1034Ser)
c.3026A>C (p.Tyr1009Ser)
c.2924A>C (p.Tyr975Ser)
c.2555A>C (p.Tyr852Ser)
5g.112838998A>GCA035239APCc.3069A>G (n.3069A>G)
c.3458A>G (p.Tyr1153Cys)
c.*3410A>G (n.*3410A>G)
c.3350A>G (p.Tyr1117Cys)
c.3404A>G (p.Tyr1135Cys)
c.1757A>G
c.*2726A>G (n.*2726A>G)
c.230+10026A>G
c.3434A>G (p.Tyr1145Cys)
c.3329A>G (p.Tyr1110Cys)
c.3320A>G (p.Tyr1107Cys)
c.3281A>G (p.Tyr1094Cys)
c.3227A>G (p.Tyr1076Cys)
c.3131A>G (p.Tyr1044Cys)
c.3101A>G (p.Tyr1034Cys)
c.3026A>G (p.Tyr1009Cys)
c.2924A>G (p.Tyr975Cys)
c.2555A>G (p.Tyr852Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838998A>TCA16028794APCc.3069A>T (n.3069A>T)
c.3458A>T (p.Tyr1153Phe)
c.*3410A>T (n.*3410A>T)
c.3350A>T (p.Tyr1117Phe)
c.3404A>T (p.Tyr1135Phe)
c.1757A>T
c.*2726A>T (n.*2726A>T)
c.230+10026A>T
c.3434A>T (p.Tyr1145Phe)
c.3329A>T (p.Tyr1110Phe)
c.3320A>T (p.Tyr1107Phe)
c.3281A>T (p.Tyr1094Phe)
c.3227A>T (p.Tyr1076Phe)
c.3131A>T (p.Tyr1044Phe)
c.3101A>T (p.Tyr1034Phe)
c.3026A>T (p.Tyr1009Phe)
c.2924A>T (p.Tyr975Phe)
c.2555A>T (p.Tyr852Phe)
 dbSNP
5g.112838999delCA2695204934APCc.3070del (n.3070del)
c.3459del (p.Tyr1153Ter)
c.*3411del (n.*3411del)
c.3351del (p.Tyr1117Ter)
c.3405del (p.Tyr1135Ter)
c.1758del
c.*2727del (n.*2727del)
c.230+10027del
c.3435del (p.Tyr1145Ter)
c.3330del (p.Tyr1110Ter)
c.3321del (p.Tyr1107Ter)
c.3282del (p.Tyr1094Ter)
c.3228del (p.Tyr1076Ter)
c.3132del (p.Tyr1044Ter)
c.3102del (p.Tyr1034Ter)
c.3027del (p.Tyr1009Ter)
c.2925del (p.Tyr975Ter)
c.2556del (p.Tyr852Ter)
5g.112838999T>ACA16028795APCc.3070T>A (n.3070T>A)
c.3459T>A (p.Tyr1153Ter)
c.*3411T>A (n.*3411T>A)
c.3351T>A (p.Tyr1117Ter)
c.3405T>A (p.Tyr1135Ter)
c.1758T>A
c.*2727T>A (n.*2727T>A)
c.230+10027T>A
c.3435T>A (p.Tyr1145Ter)
c.3330T>A (p.Tyr1110Ter)
c.3321T>A (p.Tyr1107Ter)
c.3282T>A (p.Tyr1094Ter)
c.3228T>A (p.Tyr1076Ter)
c.3132T>A (p.Tyr1044Ter)
c.3102T>A (p.Tyr1034Ter)
c.3027T>A (p.Tyr1009Ter)
c.2925T>A (p.Tyr975Ter)
c.2556T>A (p.Tyr852Ter)
5g.112838999T>CCA445963799APCc.3070T>C (n.3070T>C)
c.3459T>C (p.Tyr1153=)
c.*3411T>C (n.*3411T>C)
c.3351T>C (p.Tyr1117=)
c.3405T>C (p.Tyr1135=)
c.1758T>C
c.*2727T>C (n.*2727T>C)
c.230+10027T>C
c.3435T>C (p.Tyr1145=)
c.3330T>C (p.Tyr1110=)
c.3321T>C (p.Tyr1107=)
c.3282T>C (p.Tyr1094=)
c.3228T>C (p.Tyr1076=)
c.3132T>C (p.Tyr1044=)
c.3102T>C (p.Tyr1034=)
c.3027T>C (p.Tyr1009=)
c.2925T>C (p.Tyr975=)
c.2556T>C (p.Tyr852=)
 ClinVar
5g.112838999T>GCA16028796APCc.3070T>G (n.3070T>G)
c.3459T>G (p.Tyr1153Ter)
c.*3411T>G (n.*3411T>G)
c.3351T>G (p.Tyr1117Ter)
c.3405T>G (p.Tyr1135Ter)
c.1758T>G
c.*2727T>G (n.*2727T>G)
c.230+10027T>G
c.3435T>G (p.Tyr1145Ter)
c.3330T>G (p.Tyr1110Ter)
c.3321T>G (p.Tyr1107Ter)
c.3282T>G (p.Tyr1094Ter)
c.3228T>G (p.Tyr1076Ter)
c.3132T>G (p.Tyr1044Ter)
c.3102T>G (p.Tyr1034Ter)
c.3027T>G (p.Tyr1009Ter)
c.2925T>G (p.Tyr975Ter)
c.2556T>G (p.Tyr852Ter)
 COSMIC
5g.112839000G>ACA16028797APCc.3071G>A (n.3071G>A)
c.3460G>A (p.Glu1154Lys)
c.*3412G>A (n.*3412G>A)
c.3352G>A (p.Glu1118Lys)
c.3406G>A (p.Glu1136Lys)
c.1759G>A
c.*2728G>A (n.*2728G>A)
c.230+10028G>A
c.3436G>A (p.Glu1146Lys)
c.3331G>A (p.Glu1111Lys)
c.3322G>A (p.Glu1108Lys)
c.3283G>A (p.Glu1095Lys)
c.3229G>A (p.Glu1077Lys)
c.3133G>A (p.Glu1045Lys)
c.3103G>A (p.Glu1035Lys)
c.3028G>A (p.Glu1010Lys)
c.2926G>A (p.Glu976Lys)
c.2557G>A (p.Glu853Lys)
 ClinVar dbSNP gnomAD v4
5g.112839000G>CCA16028798APCc.3071G>C (n.3071G>C)
c.3460G>C (p.Glu1154Gln)
c.*3412G>C (n.*3412G>C)
c.3352G>C (p.Glu1118Gln)
c.3406G>C (p.Glu1136Gln)
c.1759G>C
c.*2728G>C (n.*2728G>C)
c.230+10028G>C
c.3436G>C (p.Glu1146Gln)
c.3331G>C (p.Glu1111Gln)
c.3322G>C (p.Glu1108Gln)
c.3283G>C (p.Glu1095Gln)
c.3229G>C (p.Glu1077Gln)
c.3133G>C (p.Glu1045Gln)
c.3103G>C (p.Glu1035Gln)
c.3028G>C (p.Glu1010Gln)
c.2926G>C (p.Glu976Gln)
c.2557G>C (p.Glu853Gln)
 dbSNP
5g.112839000G>TCA16028799APCc.3071G>T (n.3071G>T)
c.3460G>T (p.Glu1154Ter)
c.*3412G>T (n.*3412G>T)
c.3352G>T (p.Glu1118Ter)
c.3406G>T (p.Glu1136Ter)
c.1759G>T
c.*2728G>T (n.*2728G>T)
c.230+10028G>T
c.3436G>T (p.Glu1146Ter)
c.3331G>T (p.Glu1111Ter)
c.3322G>T (p.Glu1108Ter)
c.3283G>T (p.Glu1095Ter)
c.3229G>T (p.Glu1077Ter)
c.3133G>T (p.Glu1045Ter)
c.3103G>T (p.Glu1035Ter)
c.3028G>T (p.Glu1010Ter)
c.2926G>T (p.Glu976Ter)
c.2557G>T (p.Glu853Ter)
 dbSNP
5g.112839000_112839017dupCA2580072948APCc.3071_3088dup (n.3071_3088dup)
c.3460_3477dup (p.Thr1159_Asn1160insGluAspAspLysProThr)
c.*3412_*3429dup (n.*3412_*3429dup)
c.3352_3369dup (p.Thr1123_Asn1124insGluAspAspLysProThr)
c.3406_3423dup (p.Thr1141_Asn1142insGluAspAspLysProThr)
c.1759_1776dup
c.*2728_*2745dup (n.*2728_*2745dup)
c.230+10028_230+10045dup
c.3436_3453dup (p.Thr1151_Asn1152insGluAspAspLysProThr)
c.3331_3348dup (p.Thr1116_Asn1117insGluAspAspLysProThr)
c.3322_3339dup (p.Thr1113_Asn1114insGluAspAspLysProThr)
c.3283_3300dup (p.Thr1100_Asn1101insGluAspAspLysProThr)
c.3229_3246dup (p.Thr1082_Asn1083insGluAspAspLysProThr)
c.3133_3150dup (p.Thr1050_Asn1051insGluAspAspLysProThr)
c.3103_3120dup (p.Thr1040_Asn1041insGluAspAspLysProThr)
c.3028_3045dup (p.Thr1015_Asn1016insGluAspAspLysProThr)
c.2926_2943dup (p.Thr981_Asn982insGluAspAspLysProThr)
c.2557_2574dup (p.Thr858_Asn859insGluAspAspLysProThr)
 ClinVar
5g.112839001A=CA1573488160APCc.3072A= (n.3072A=)
c.3461A= (p.Glu1154=)
c.*3413A= (n.*3413A=)
c.3353A= (p.Glu1118=)
c.3407A= (p.Glu1136=)
c.1760A=
c.*2729A= (n.*2729A=)
c.230+10029A=
c.3437A= (p.Glu1146=)
c.3332A= (p.Glu1111=)
c.3323A= (p.Glu1108=)
c.3284A= (p.Glu1095=)
c.3230A= (p.Glu1077=)
c.3134A= (p.Glu1045=)
c.3104A= (p.Glu1035=)
c.3029A= (p.Glu1010=)
c.2927A= (p.Glu976=)
c.2558A= (p.Glu853=)
5g.112839001A>CCA10582308APCc.3072A>C (n.3072A>C)
c.3461A>C (p.Glu1154Ala)
c.*3413A>C (n.*3413A>C)
c.3353A>C (p.Glu1118Ala)
c.3407A>C (p.Glu1136Ala)
c.1760A>C
c.*2729A>C (n.*2729A>C)
c.230+10029A>C
c.3437A>C (p.Glu1146Ala)
c.3332A>C (p.Glu1111Ala)
c.3323A>C (p.Glu1108Ala)
c.3284A>C (p.Glu1095Ala)
c.3230A>C (p.Glu1077Ala)
c.3134A>C (p.Glu1045Ala)
c.3104A>C (p.Glu1035Ala)
c.3029A>C (p.Glu1010Ala)
c.2927A>C (p.Glu976Ala)
c.2558A>C (p.Glu853Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112839001A>GCA16028800APCc.3072A>G (n.3072A>G)
c.3461A>G (p.Glu1154Gly)
c.*3413A>G (n.*3413A>G)
c.3353A>G (p.Glu1118Gly)
c.3407A>G (p.Glu1136Gly)
c.1760A>G
c.*2729A>G (n.*2729A>G)
c.230+10029A>G
c.3437A>G (p.Glu1146Gly)
c.3332A>G (p.Glu1111Gly)
c.3323A>G (p.Glu1108Gly)
c.3284A>G (p.Glu1095Gly)
c.3230A>G (p.Glu1077Gly)
c.3134A>G (p.Glu1045Gly)
c.3104A>G (p.Glu1035Gly)
c.3029A>G (p.Glu1010Gly)
c.2927A>G (p.Glu976Gly)
c.2558A>G (p.Glu853Gly)
 ClinVar dbSNP
5g.112839001A>TCA16028801APCc.3072A>T (n.3072A>T)
c.3461A>T (p.Glu1154Val)
c.*3413A>T (n.*3413A>T)
c.3353A>T (p.Glu1118Val)
c.3407A>T (p.Glu1136Val)
c.1760A>T
c.*2729A>T (n.*2729A>T)
c.230+10029A>T
c.3437A>T (p.Glu1146Val)
c.3332A>T (p.Glu1111Val)
c.3323A>T (p.Glu1108Val)
c.3284A>T (p.Glu1095Val)
c.3230A>T (p.Glu1077Val)
c.3134A>T (p.Glu1045Val)
c.3104A>T (p.Glu1035Val)
c.3029A>T (p.Glu1010Val)
c.2927A>T (p.Glu976Val)
c.2558A>T (p.Glu853Val)
 dbSNP
5g.112839002delCA2695204935APCc.3073del (n.3073del)
c.3462del (p.Asp1155MetfsTer28)
c.*3414del (n.*3414del)
c.3354del (p.Asp1119MetfsTer28)
c.3408del (p.Asp1137MetfsTer28)
c.1761del
c.3354del (p.Asp1119MetfsTer?)
c.*2730del (n.*2730del)
c.230+10030del
c.3438del (p.Asp1147MetfsTer28)
c.3333del (p.Asp1112MetfsTer28)
c.3324del (p.Asp1109MetfsTer28)
c.3285del (p.Asp1096MetfsTer28)
c.3231del (p.Asp1078MetfsTer28)
c.3135del (p.Asp1046MetfsTer28)
c.3105del (p.Asp1036MetfsTer28)
c.3030del (p.Asp1011MetfsTer28)
c.2928del (p.Asp977MetfsTer28)
c.2559del (p.Asp854MetfsTer28)
5g.112839002A>CCA16028802APCc.3073A>C (n.3073A>C)
c.3462A>C (p.Glu1154Asp)
c.*3414A>C (n.*3414A>C)
c.3354A>C (p.Glu1118Asp)
c.3408A>C (p.Glu1136Asp)
c.1761A>C
c.*2730A>C (n.*2730A>C)
c.230+10030A>C
c.3438A>C (p.Glu1146Asp)
c.3333A>C (p.Glu1111Asp)
c.3324A>C (p.Glu1108Asp)
c.3285A>C (p.Glu1095Asp)
c.3231A>C (p.Glu1077Asp)
c.3135A>C (p.Glu1045Asp)
c.3105A>C (p.Glu1035Asp)
c.3030A>C (p.Glu1010Asp)
c.2928A>C (p.Glu976Asp)
c.2559A>C (p.Glu853Asp)
5g.112839002A>GCA445963803APCc.3073A>G (n.3073A>G)
c.3462A>G (p.Glu1154=)
c.*3414A>G (n.*3414A>G)
c.3354A>G (p.Glu1118=)
c.3408A>G (p.Glu1136=)
c.1761A>G
c.*2730A>G (n.*2730A>G)
c.230+10030A>G
c.3438A>G (p.Glu1146=)
c.3333A>G (p.Glu1111=)
c.3324A>G (p.Glu1108=)
c.3285A>G (p.Glu1095=)
c.3231A>G (p.Glu1077=)
c.3135A>G (p.Glu1045=)
c.3105A>G (p.Glu1035=)
c.3030A>G (p.Glu1010=)
c.2928A>G (p.Glu976=)
c.2559A>G (p.Glu853=)
 dbSNP gnomAD v4
5g.112839002A>TCA16028803APCc.3073A>T (n.3073A>T)
c.3462A>T (p.Glu1154Asp)
c.*3414A>T (n.*3414A>T)
c.3354A>T (p.Glu1118Asp)
c.3408A>T (p.Glu1136Asp)
c.1761A>T
c.*2730A>T (n.*2730A>T)
c.230+10030A>T
c.3438A>T (p.Glu1146Asp)
c.3333A>T (p.Glu1111Asp)
c.3324A>T (p.Glu1108Asp)
c.3285A>T (p.Glu1095Asp)
c.3231A>T (p.Glu1077Asp)
c.3135A>T (p.Glu1045Asp)
c.3105A>T (p.Glu1035Asp)
c.3030A>T (p.Glu1010Asp)
c.2928A>T (p.Glu976Asp)
c.2559A>T (p.Glu853Asp)
 dbSNP
5g.112839003G>ACA16028804APCc.3074G>A (n.3074G>A)
c.3463G>A (p.Asp1155Asn)
c.*3415G>A (n.*3415G>A)
c.3355G>A (p.Asp1119Asn)
c.3409G>A (p.Asp1137Asn)
c.1762G>A
c.*2731G>A (n.*2731G>A)
c.230+10031G>A
c.3439G>A (p.Asp1147Asn)
c.3334G>A (p.Asp1112Asn)
c.3325G>A (p.Asp1109Asn)
c.3286G>A (p.Asp1096Asn)
c.3232G>A (p.Asp1078Asn)
c.3136G>A (p.Asp1046Asn)
c.3106G>A (p.Asp1036Asn)
c.3031G>A (p.Asp1011Asn)
c.2929G>A (p.Asp977Asn)
c.2560G>A (p.Asp854Asn)
 ClinVar dbSNP COSMIC
5g.112839003G>CCA16028805APCc.3074G>C (n.3074G>C)
c.3463G>C (p.Asp1155His)
c.*3415G>C (n.*3415G>C)
c.3355G>C (p.Asp1119His)
c.3409G>C (p.Asp1137His)
c.1762G>C
c.*2731G>C (n.*2731G>C)
c.230+10031G>C
c.3439G>C (p.Asp1147His)
c.3334G>C (p.Asp1112His)
c.3325G>C (p.Asp1109His)
c.3286G>C (p.Asp1096His)
c.3232G>C (p.Asp1078His)
c.3136G>C (p.Asp1046His)
c.3106G>C (p.Asp1036His)
c.3031G>C (p.Asp1011His)
c.2929G>C (p.Asp977His)
c.2560G>C (p.Asp854His)
 dbSNP COSMIC
5g.112839003G>TCA16028806APCc.3074G>T (n.3074G>T)
c.3463G>T (p.Asp1155Tyr)
c.*3415G>T (n.*3415G>T)
c.3355G>T (p.Asp1119Tyr)
c.3409G>T (p.Asp1137Tyr)
c.1762G>T
c.*2731G>T (n.*2731G>T)
c.230+10031G>T
c.3439G>T (p.Asp1147Tyr)
c.3334G>T (p.Asp1112Tyr)
c.3325G>T (p.Asp1109Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3232G>T (p.Asp1078Tyr)
c.3136G>T (p.Asp1046Tyr)
c.3106G>T (p.Asp1036Tyr)
c.3031G>T (p.Asp1011Tyr)
c.2929G>T (p.Asp977Tyr)
c.2560G>T (p.Asp854Tyr)
 ClinVar dbSNP
5g.112839004A=CA1573488164APCc.3075A= (n.3075A=)
c.3464A= (p.Asp1155=)
c.*3416A= (n.*3416A=)
c.3356A= (p.Asp1119=)
c.3410A= (p.Asp1137=)
c.1763A=
c.*2732A= (n.*2732A=)
c.230+10032A=
c.3440A= (p.Asp1147=)
c.3335A= (p.Asp1112=)
c.3326A= (p.Asp1109=)
c.3287A= (p.Asp1096=)
c.3233A= (p.Asp1078=)
c.3137A= (p.Asp1046=)
c.3107A= (p.Asp1036=)
c.3032A= (p.Asp1011=)
c.2930A= (p.Asp977=)
c.2561A= (p.Asp854=)
5g.112839004A>CCA16028807APCc.3075A>C (n.3075A>C)
c.3464A>C (p.Asp1155Ala)
c.*3416A>C (n.*3416A>C)
c.3356A>C (p.Asp1119Ala)
c.3410A>C (p.Asp1137Ala)
c.1763A>C
c.*2732A>C (n.*2732A>C)
c.230+10032A>C
c.3440A>C (p.Asp1147Ala)
c.3335A>C (p.Asp1112Ala)
c.3326A>C (p.Asp1109Ala)
c.3287A>C (p.Asp1096Ala)
c.3233A>C (p.Asp1078Ala)
c.3137A>C (p.Asp1046Ala)
c.3107A>C (p.Asp1036Ala)
c.3032A>C (p.Asp1011Ala)
c.2930A>C (p.Asp977Ala)
c.2561A>C (p.Asp854Ala)
5g.112839004A>GCA16028808APCc.3075A>G (n.3075A>G)
c.3464A>G (p.Asp1155Gly)
c.*3416A>G (n.*3416A>G)
c.3356A>G (p.Asp1119Gly)
c.3410A>G (p.Asp1137Gly)
c.1763A>G
c.*2732A>G (n.*2732A>G)
c.230+10032A>G
c.3440A>G (p.Asp1147Gly)
c.3335A>G (p.Asp1112Gly)
c.3326A>G (p.Asp1109Gly)
c.3287A>G (p.Asp1096Gly)
c.3233A>G (p.Asp1078Gly)
c.3137A>G (p.Asp1046Gly)
c.3107A>G (p.Asp1036Gly)
c.3032A>G (p.Asp1011Gly)
c.2930A>G (p.Asp977Gly)
c.2561A>G (p.Asp854Gly)
 ClinVar dbSNP gnomAD v4
5g.112839004A>TCA16028809APCc.3075A>T (n.3075A>T)
c.3464A>T (p.Asp1155Val)
c.*3416A>T (n.*3416A>T)
c.3356A>T (p.Asp1119Val)
c.3410A>T (p.Asp1137Val)
c.1763A>T
c.*2732A>T (n.*2732A>T)
c.230+10032A>T
c.3440A>T (p.Asp1147Val)
c.3335A>T (p.Asp1112Val)
c.3326A>T (p.Asp1109Val)
c.3287A>T (p.Asp1096Val)
c.3233A>T (p.Asp1078Val)
c.3137A>T (p.Asp1046Val)
c.3107A>T (p.Asp1036Val)
c.3032A>T (p.Asp1011Val)
c.2930A>T (p.Asp977Val)
c.2561A>T (p.Asp854Val)
 dbSNP
5g.112839005delCA2499217472APCc.3076del (n.3076del)
c.3465del (p.Asp1155GlufsTer28)
c.*3417del (n.*3417del)
c.3357del (p.Asp1119GlufsTer28)
c.3411del (p.Asp1137GlufsTer28)
c.1764del
c.3357del (p.Asp1119GlufsTer?)
c.*2733del (n.*2733del)
c.230+10033del
c.3441del (p.Asp1147GlufsTer28)
c.3336del (p.Asp1112GlufsTer28)
c.3327del (p.Asp1109GlufsTer28)
c.3288del (p.Asp1096GlufsTer28)
c.3234del (p.Asp1078GlufsTer28)
c.3138del (p.Asp1046GlufsTer28)
c.3108del (p.Asp1036GlufsTer28)
c.3033del (p.Asp1011GlufsTer28)
c.2931del (p.Asp977GlufsTer28)
c.2562del (p.Asp854GlufsTer28)
 ClinVar dbSNP
5g.112839005T>ACA16028810APCc.3076T>A (n.3076T>A)
c.3465T>A (p.Asp1155Glu)
c.*3417T>A (n.*3417T>A)
c.3357T>A (p.Asp1119Glu)
c.3411T>A (p.Asp1137Glu)
c.1764T>A
c.*2733T>A (n.*2733T>A)
c.230+10033T>A
c.3441T>A (p.Asp1147Glu)
c.3336T>A (p.Asp1112Glu)
c.3327T>A (p.Asp1109Glu)
c.3288T>A (p.Asp1096Glu)
c.3234T>A (p.Asp1078Glu)
c.3138T>A (p.Asp1046Glu)
c.3108T>A (p.Asp1036Glu)
c.3033T>A (p.Asp1011Glu)
c.2931T>A (p.Asp977Glu)
c.2562T>A (p.Asp854Glu)
 dbSNP
5g.112839005T>CCA445963810APCc.3076T>C (n.3076T>C)
c.3465T>C (p.Asp1155=)
c.*3417T>C (n.*3417T>C)
c.3357T>C (p.Asp1119=)
c.3411T>C (p.Asp1137=)
c.1764T>C
c.*2733T>C (n.*2733T>C)
c.230+10033T>C
c.3441T>C (p.Asp1147=)
c.3336T>C (p.Asp1112=)
c.3327T>C (p.Asp1109=)
c.3288T>C (p.Asp1096=)
c.3234T>C (p.Asp1078=)
c.3138T>C (p.Asp1046=)
c.3108T>C (p.Asp1036=)
c.3033T>C (p.Asp1011=)
c.2931T>C (p.Asp977=)
c.2562T>C (p.Asp854=)
 ClinVar dbSNP
5g.112839005T>GCA16028811APCc.3076T>G (n.3076T>G)
c.3465T>G (p.Asp1155Glu)
c.*3417T>G (n.*3417T>G)
c.3357T>G (p.Asp1119Glu)
c.3411T>G (p.Asp1137Glu)
c.1764T>G
c.*2733T>G (n.*2733T>G)
c.230+10033T>G
c.3441T>G (p.Asp1147Glu)
c.3336T>G (p.Asp1112Glu)
c.3327T>G (p.Asp1109Glu)
c.3288T>G (p.Asp1096Glu)
c.3234T>G (p.Asp1078Glu)
c.3138T>G (p.Asp1046Glu)
c.3108T>G (p.Asp1036Glu)
c.3033T>G (p.Asp1011Glu)
c.2931T>G (p.Asp977Glu)
c.2562T>G (p.Asp854Glu)
 dbSNP
5g.112839006G>ACA16028812APCc.3077G>A (n.3077G>A)
c.3466G>A (p.Asp1156Asn)
c.*3418G>A (n.*3418G>A)
c.3358G>A (p.Asp1120Asn)
c.3412G>A (p.Asp1138Asn)
c.1765G>A
c.*2734G>A (n.*2734G>A)
c.230+10034G>A
c.3442G>A (p.Asp1148Asn)
c.3337G>A (p.Asp1113Asn)
c.3328G>A (p.Asp1110Asn)
c.3289G>A (p.Asp1097Asn)
c.3235G>A (p.Asp1079Asn)
c.3139G>A (p.Asp1047Asn)
c.3109G>A (p.Asp1037Asn)
c.3034G>A (p.Asp1012Asn)
c.2932G>A (p.Asp978Asn)
c.2563G>A (p.Asp855Asn)
 ClinVar dbSNP gnomAD v4
5g.112839006G>CCA008365APCc.3077G>C (n.3077G>C)
c.3466G>C (p.Asp1156His)
c.*3418G>C (n.*3418G>C)
c.3358G>C (p.Asp1120His)
c.3412G>C (p.Asp1138His)
c.1765G>C
c.*2734G>C (n.*2734G>C)
c.230+10034G>C
c.3442G>C (p.Asp1148His)
c.3337G>C (p.Asp1113His)
c.3328G>C (p.Asp1110His)
c.3289G>C (p.Asp1097His)
c.3235G>C (p.Asp1079His)
c.3139G>C (p.Asp1047His)
c.3109G>C (p.Asp1037His)
c.3034G>C (p.Asp1012His)
c.2932G>C (p.Asp978His)
c.2563G>C (p.Asp855His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112839006G=CA1573488171APCc.3077G= (n.3077G=)
c.3466G= (p.Asp1156=)
c.*3418G= (n.*3418G=)
c.3358G= (p.Asp1120=)
c.3412G= (p.Asp1138=)
c.1765G=
c.*2734G= (n.*2734G=)
c.230+10034G=
c.3442G= (p.Asp1148=)
c.3337G= (p.Asp1113=)
c.3328G= (p.Asp1110=)
c.3289G= (p.Asp1097=)
c.3235G= (p.Asp1079=)
c.3139G= (p.Asp1047=)
c.3109G= (p.Asp1037=)
c.3034G= (p.Asp1012=)
c.2932G= (p.Asp978=)
c.2563G= (p.Asp855=)
5g.112839006G>TCA16028813APCc.3077G>T (n.3077G>T)
c.3466G>T (p.Asp1156Tyr)
c.*3418G>T (n.*3418G>T)
c.3358G>T (p.Asp1120Tyr)
c.3412G>T (p.Asp1138Tyr)
c.1765G>T
c.*2734G>T (n.*2734G>T)
c.230+10034G>T
c.3442G>T (p.Asp1148Tyr)
c.3337G>T (p.Asp1113Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3289G>T (p.Asp1097Tyr)
c.3235G>T (p.Asp1079Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3109G>T (p.Asp1037Tyr)
c.3034G>T (p.Asp1012Tyr)
c.2932G>T (p.Asp978Tyr)
c.2563G>T (p.Asp855Tyr)
 ClinVar COSMIC
5g.112839007_112839011delCA2695204936APCc.3078_3082del (n.3078_3082del)
c.3467_3471del (p.Asp1156AlafsTer5)
c.*3419_*3423del (n.*3419_*3423del)
c.3359_3363del (p.Asp1120AlafsTer5)
c.3413_3417del (p.Asp1138AlafsTer5)
c.1766_1770del
c.*2735_*2739del (n.*2735_*2739del)
c.230+10035_230+10039del
c.3443_3447del (p.Asp1148AlafsTer5)
c.3338_3342del (p.Asp1113AlafsTer5)
c.3329_3333del (p.Asp1110AlafsTer5)
c.3290_3294del (p.Asp1097AlafsTer5)
c.3236_3240del (p.Asp1079AlafsTer5)
c.3140_3144del (p.Asp1047AlafsTer5)
c.3110_3114del (p.Asp1037AlafsTer5)
c.3035_3039del (p.Asp1012AlafsTer5)
c.2933_2937del (p.Asp978AlafsTer5)
c.2564_2568del (p.Asp855AlafsTer5)
5g.112839007delCA658760917APCc.3078del (n.3078del)
c.3467del (p.Asp1156ValfsTer27)
c.*3419del (n.*3419del)
c.3359del (p.Asp1120ValfsTer27)
c.3413del (p.Asp1138ValfsTer27)
c.1766del
c.3359del (p.Asp1120ValfsTer?)
c.*2735del (n.*2735del)
c.230+10035del
c.3443del (p.Asp1148ValfsTer27)
c.3338del (p.Asp1113ValfsTer27)
c.3329del (p.Asp1110ValfsTer27)
c.3290del (p.Asp1097ValfsTer27)
c.3236del (p.Asp1079ValfsTer27)
c.3140del (p.Asp1047ValfsTer27)
c.3110del (p.Asp1037ValfsTer27)
c.3035del (p.Asp1012ValfsTer27)
c.2933del (p.Asp978ValfsTer27)
c.2564del (p.Asp855ValfsTer27)
 ClinVar dbSNP
5g.112839007A=CA1573488173APCc.3078A= (n.3078A=)
c.3467A= (p.Asp1156=)
c.*3419A= (n.*3419A=)
c.3359A= (p.Asp1120=)
c.3413A= (p.Asp1138=)
c.1766A=
c.*2735A= (n.*2735A=)
c.230+10035A=
c.3443A= (p.Asp1148=)
c.3338A= (p.Asp1113=)
c.3329A= (p.Asp1110=)
c.3290A= (p.Asp1097=)
c.3236A= (p.Asp1079=)
c.3140A= (p.Asp1047=)
c.3110A= (p.Asp1037=)
c.3035A= (p.Asp1012=)
c.2933A= (p.Asp978=)
c.2564A= (p.Asp855=)
5g.112839007A>CCA16028814APCc.3078A>C (n.3078A>C)
c.3467A>C (p.Asp1156Ala)
c.*3419A>C (n.*3419A>C)
c.3359A>C (p.Asp1120Ala)
c.3413A>C (p.Asp1138Ala)
c.1766A>C
c.*2735A>C (n.*2735A>C)
c.230+10035A>C
c.3443A>C (p.Asp1148Ala)
c.3338A>C (p.Asp1113Ala)
c.3329A>C (p.Asp1110Ala)
c.3290A>C (p.Asp1097Ala)
c.3236A>C (p.Asp1079Ala)
c.3140A>C (p.Asp1047Ala)
c.3110A>C (p.Asp1037Ala)
c.3035A>C (p.Asp1012Ala)
c.2933A>C (p.Asp978Ala)
c.2564A>C (p.Asp855Ala)
5g.112839007A>GCA035284APCc.3078A>G (n.3078A>G)
c.3467A>G (p.Asp1156Gly)
c.*3419A>G (n.*3419A>G)
c.3359A>G (p.Asp1120Gly)
c.3413A>G (p.Asp1138Gly)
c.1766A>G
c.*2735A>G (n.*2735A>G)
c.230+10035A>G
c.3443A>G (p.Asp1148Gly)
c.3338A>G (p.Asp1113Gly)
c.3329A>G (p.Asp1110Gly)
c.3290A>G (p.Asp1097Gly)
c.3236A>G (p.Asp1079Gly)
c.3140A>G (p.Asp1047Gly)
c.3110A>G (p.Asp1037Gly)
c.3035A>G (p.Asp1012Gly)
c.2933A>G (p.Asp978Gly)
c.2564A>G (p.Asp855Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112839007A>TCA16028815APCc.3078A>T (n.3078A>T)
c.3467A>T (p.Asp1156Val)
c.*3419A>T (n.*3419A>T)
c.3359A>T (p.Asp1120Val)
c.3413A>T (p.Asp1138Val)
c.1766A>T
c.*2735A>T (n.*2735A>T)
c.230+10035A>T
c.3443A>T (p.Asp1148Val)
c.3338A>T (p.Asp1113Val)
c.3329A>T (p.Asp1110Val)
c.3290A>T (p.Asp1097Val)
c.3236A>T (p.Asp1079Val)
c.3140A>T (p.Asp1047Val)
c.3110A>T (p.Asp1037Val)
c.3035A>T (p.Asp1012Val)
c.2933A>T (p.Asp978Val)
c.2564A>T (p.Asp855Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112839008T>ACA16028816APCc.3079T>A (n.3079T>A)
c.3468T>A (p.Asp1156Glu)
c.*3420T>A (n.*3420T>A)
c.3360T>A (p.Asp1120Glu)
c.3414T>A (p.Asp1138Glu)
c.1767T>A
c.*2736T>A (n.*2736T>A)
c.230+10036T>A
c.3444T>A (p.Asp1148Glu)
c.3339T>A (p.Asp1113Glu)
c.3330T>A (p.Asp1110Glu)
c.3291T>A (p.Asp1097Glu)
c.3237T>A (p.Asp1079Glu)
c.3141T>A (p.Asp1047Glu)
c.3111T>A (p.Asp1037Glu)
c.3036T>A (p.Asp1012Glu)
c.2934T>A (p.Asp978Glu)
c.2565T>A (p.Asp855Glu)
5g.112839008T>CCA445963820APCc.3079T>C (n.3079T>C)
c.3468T>C (p.Asp1156=)
c.*3420T>C (n.*3420T>C)
c.3360T>C (p.Asp1120=)
c.3414T>C (p.Asp1138=)
c.1767T>C
c.*2736T>C (n.*2736T>C)
c.230+10036T>C
c.3444T>C (p.Asp1148=)
c.3339T>C (p.Asp1113=)
c.3330T>C (p.Asp1110=)
c.3291T>C (p.Asp1097=)
c.3237T>C (p.Asp1079=)
c.3141T>C (p.Asp1047=)
c.3111T>C (p.Asp1037=)
c.3036T>C (p.Asp1012=)
c.2934T>C (p.Asp978=)
c.2565T>C (p.Asp855=)
 ClinVar
5g.112839008T>GCA16028817APCc.3079T>G (n.3079T>G)
c.3468T>G (p.Asp1156Glu)
c.*3420T>G (n.*3420T>G)
c.3360T>G (p.Asp1120Glu)
c.3414T>G (p.Asp1138Glu)
c.1767T>G
c.*2736T>G (n.*2736T>G)
c.230+10036T>G
c.3444T>G (p.Asp1148Glu)
c.3339T>G (p.Asp1113Glu)
c.3330T>G (p.Asp1110Glu)
c.3291T>G (p.Asp1097Glu)
c.3237T>G (p.Asp1079Glu)
c.3141T>G (p.Asp1047Glu)
c.3111T>G (p.Asp1037Glu)
c.3036T>G (p.Asp1012Glu)
c.2934T>G (p.Asp978Glu)
c.2565T>G (p.Asp855Glu)
5g.112839009A=CA1573488179APCc.3080A= (n.3080A=)
c.3469A= (p.Lys1157=)
c.*3421A= (n.*3421A=)
c.3361A= (p.Lys1121=)
c.3415A= (p.Lys1139=)
c.1768A=
c.*2737A= (n.*2737A=)
c.230+10037A=
c.3445A= (p.Lys1149=)
c.3340A= (p.Lys1114=)
c.3331A= (p.Lys1111=)
c.3292A= (p.Lys1098=)
c.3238A= (p.Lys1080=)
c.3142A= (p.Lys1048=)
c.3112A= (p.Lys1038=)
c.3037A= (p.Lys1013=)
c.2935A= (p.Lys979=)
c.2566A= (p.Lys856=)
5g.112839009A>CCA008372APCc.3080A>C (n.3080A>C)
c.3469A>C (p.Lys1157Gln)
c.*3421A>C (n.*3421A>C)
c.3361A>C (p.Lys1121Gln)
c.3415A>C (p.Lys1139Gln)
c.1768A>C
c.*2737A>C (n.*2737A>C)
c.230+10037A>C
c.3445A>C (p.Lys1149Gln)
c.3340A>C (p.Lys1114Gln)
c.3331A>C (p.Lys1111Gln)
c.3292A>C (p.Lys1098Gln)
c.3238A>C (p.Lys1080Gln)
c.3142A>C (p.Lys1048Gln)
c.3112A>C (p.Lys1038Gln)
c.3037A>C (p.Lys1013Gln)
c.2935A>C (p.Lys979Gln)
c.2566A>C (p.Lys856Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112839009A>GCA16028818APCc.3080A>G (n.3080A>G)
c.3469A>G (p.Lys1157Glu)
c.*3421A>G (n.*3421A>G)
c.3361A>G (p.Lys1121Glu)
c.3415A>G (p.Lys1139Glu)
c.1768A>G
c.*2737A>G (n.*2737A>G)
c.230+10037A>G
c.3445A>G (p.Lys1149Glu)
c.3340A>G (p.Lys1114Glu)
c.3331A>G (p.Lys1111Glu)
c.3292A>G (p.Lys1098Glu)
c.3238A>G (p.Lys1080Glu)
c.3142A>G (p.Lys1048Glu)
c.3112A>G (p.Lys1038Glu)
c.3037A>G (p.Lys1013Glu)
c.2935A>G (p.Lys979Glu)
c.2566A>G (p.Lys856Glu)
 ClinVar dbSNP
5g.112839009A>TCA16028819APCc.3080A>T (n.3080A>T)
c.3469A>T (p.Lys1157Ter)
c.*3421A>T (n.*3421A>T)
c.3361A>T (p.Lys1121Ter)
c.3415A>T (p.Lys1139Ter)
c.1768A>T
c.*2737A>T (n.*2737A>T)
c.230+10037A>T
c.3445A>T (p.Lys1149Ter)
c.3340A>T (p.Lys1114Ter)
c.3331A>T (p.Lys1111Ter)
c.3292A>T (p.Lys1098Ter)
c.3238A>T (p.Lys1080Ter)
c.3142A>T (p.Lys1048Ter)
c.3112A>T (p.Lys1038Ter)
c.3037A>T (p.Lys1013Ter)
c.2935A>T (p.Lys979Ter)
c.2566A>T (p.Lys856Ter)
 dbSNP
5g.112839010A>CCA16028820APCc.3081A>C (n.3081A>C)
c.3470A>C (p.Lys1157Thr)
c.*3422A>C (n.*3422A>C)
c.3362A>C (p.Lys1121Thr)
c.3416A>C (p.Lys1139Thr)
c.1769A>C
c.*2738A>C (n.*2738A>C)
c.230+10038A>C
c.3446A>C (p.Lys1149Thr)
c.3341A>C (p.Lys1114Thr)
c.3332A>C (p.Lys1111Thr)
c.3293A>C (p.Lys1098Thr)
c.3239A>C (p.Lys1080Thr)
c.3143A>C (p.Lys1048Thr)
c.3113A>C (p.Lys1038Thr)
c.3038A>C (p.Lys1013Thr)
c.2936A>C (p.Lys979Thr)
c.2567A>C (p.Lys856Thr)
 dbSNP
5g.112839010A>GCA16028821APCc.3081A>G (n.3081A>G)
c.3470A>G (p.Lys1157Arg)
c.*3422A>G (n.*3422A>G)
c.3362A>G (p.Lys1121Arg)
c.3416A>G (p.Lys1139Arg)
c.1769A>G
c.*2738A>G (n.*2738A>G)
c.230+10038A>G
c.3446A>G (p.Lys1149Arg)
c.3341A>G (p.Lys1114Arg)
c.3332A>G (p.Lys1111Arg)
c.3293A>G (p.Lys1098Arg)
c.3239A>G (p.Lys1080Arg)
c.3143A>G (p.Lys1048Arg)
c.3113A>G (p.Lys1038Arg)
c.3038A>G (p.Lys1013Arg)
c.2936A>G (p.Lys979Arg)
c.2567A>G (p.Lys856Arg)
 dbSNP
5g.112839010A>TCA16028822APCc.3081A>T (n.3081A>T)
c.3470A>T (p.Lys1157Met)
c.*3422A>T (n.*3422A>T)
c.3362A>T (p.Lys1121Met)
c.3416A>T (p.Lys1139Met)
c.1769A>T
c.*2738A>T (n.*2738A>T)
c.230+10038A>T
c.3446A>T (p.Lys1149Met)
c.3341A>T (p.Lys1114Met)
c.3332A>T (p.Lys1111Met)
c.3293A>T (p.Lys1098Met)
c.3239A>T (p.Lys1080Met)
c.3143A>T (p.Lys1048Met)
c.3113A>T (p.Lys1038Met)
c.3038A>T (p.Lys1013Met)
c.2936A>T (p.Lys979Met)
c.2567A>T (p.Lys856Met)
 dbSNP
5g.112839011G>ACA445963827APCc.3082G>A (n.3082G>A)
c.3471G>A (p.Lys1157=)
c.*3423G>A (n.*3423G>A)
c.3363G>A (p.Lys1121=)
c.3417G>A (p.Lys1139=)
c.1770G>A
c.*2739G>A (n.*2739G>A)
c.230+10039G>A
c.3447G>A (p.Lys1149=)
c.3342G>A (p.Lys1114=)
c.3333G>A (p.Lys1111=)
c.3294G>A (p.Lys1098=)
c.3240G>A (p.Lys1080=)
c.3144G>A (p.Lys1048=)
c.3114G>A (p.Lys1038=)
c.3039G>A (p.Lys1013=)
c.2937G>A (p.Lys979=)
c.2568G>A (p.Lys856=)
 ClinVar dbSNP gnomAD v4
5g.112839011G>CCA16028823APCc.3082G>C (n.3082G>C)
c.3471G>C (p.Lys1157Asn)
c.*3423G>C (n.*3423G>C)
c.3363G>C (p.Lys1121Asn)
c.3417G>C (p.Lys1139Asn)
c.1770G>C
c.*2739G>C (n.*2739G>C)
c.230+10039G>C
c.3447G>C (p.Lys1149Asn)
c.3342G>C (p.Lys1114Asn)
c.3333G>C (p.Lys1111Asn)
c.3294G>C (p.Lys1098Asn)
c.3240G>C (p.Lys1080Asn)
c.3144G>C (p.Lys1048Asn)
c.3114G>C (p.Lys1038Asn)
c.3039G>C (p.Lys1013Asn)
c.2937G>C (p.Lys979Asn)
c.2568G>C (p.Lys856Asn)
 dbSNP
5g.112839011G>TCA16028824APCc.3082G>T (n.3082G>T)
c.3471G>T (p.Lys1157Asn)
c.*3423G>T (n.*3423G>T)
c.3363G>T (p.Lys1121Asn)
c.3417G>T (p.Lys1139Asn)
c.1770G>T
c.*2739G>T (n.*2739G>T)
c.230+10039G>T
c.3447G>T (p.Lys1149Asn)
c.3342G>T (p.Lys1114Asn)
c.3333G>T (p.Lys1111Asn)
c.3294G>T (p.Lys1098Asn)
c.3240G>T (p.Lys1080Asn)
c.3144G>T (p.Lys1048Asn)
c.3114G>T (p.Lys1038Asn)
c.3039G>T (p.Lys1013Asn)
c.2937G>T (p.Lys979Asn)
c.2568G>T (p.Lys856Asn)
 ClinVar dbSNP
5g.112839012C>ACA16028825APCc.3083C>A (n.3083C>A)
c.3472C>A (p.Pro1158Thr)
c.*3424C>A (n.*3424C>A)
c.3364C>A (p.Pro1122Thr)
c.3418C>A (p.Pro1140Thr)
c.1771C>A
c.*2740C>A (n.*2740C>A)
c.230+10040C>A
c.3448C>A (p.Pro1150Thr)
c.3343C>A (p.Pro1115Thr)
c.3334C>A (p.Pro1112Thr)
c.3295C>A (p.Pro1099Thr)
c.3241C>A (p.Pro1081Thr)
c.3145C>A (p.Pro1049Thr)
c.3115C>A (p.Pro1039Thr)
c.3040C>A (p.Pro1014Thr)
c.2938C>A (p.Pro980Thr)
c.2569C>A (p.Pro857Thr)
 dbSNP
5g.112839012C=CA1573488186APCc.3083C= (n.3083C=)
c.3472C= (p.Pro1158=)
c.*3424C= (n.*3424C=)
c.3364C= (p.Pro1122=)
c.3418C= (p.Pro1140=)
c.1771C=
c.*2740C= (n.*2740C=)
c.230+10040C=
c.3448C= (p.Pro1150=)
c.3343C= (p.Pro1115=)
c.3334C= (p.Pro1112=)
c.3295C= (p.Pro1099=)
c.3241C= (p.Pro1081=)
c.3145C= (p.Pro1049=)
c.3115C= (p.Pro1039=)
c.3040C= (p.Pro1014=)
c.2938C= (p.Pro980=)
c.2569C= (p.Pro857=)
5g.112839012C>GCA16028826APCc.3083C>G (n.3083C>G)
c.3472C>G (p.Pro1158Ala)
c.*3424C>G (n.*3424C>G)
c.3364C>G (p.Pro1122Ala)
c.3418C>G (p.Pro1140Ala)
c.1771C>G
c.*2740C>G (n.*2740C>G)
c.230+10040C>G
c.3448C>G (p.Pro1150Ala)
c.3343C>G (p.Pro1115Ala)
c.3334C>G (p.Pro1112Ala)
c.3295C>G (p.Pro1099Ala)
c.3241C>G (p.Pro1081Ala)
c.3145C>G (p.Pro1049Ala)
c.3115C>G (p.Pro1039Ala)
c.3040C>G (p.Pro1014Ala)
c.2938C>G (p.Pro980Ala)
c.2569C>G (p.Pro857Ala)
 ClinVar dbSNP gnomAD v4
5g.112839012C>TCA16028827APCc.3083C>T (n.3083C>T)
c.3472C>T (p.Pro1158Ser)
c.*3424C>T (n.*3424C>T)
c.3364C>T (p.Pro1122Ser)
c.3418C>T (p.Pro1140Ser)
c.1771C>T
c.*2740C>T (n.*2740C>T)
c.230+10040C>T
c.3448C>T (p.Pro1150Ser)
c.3343C>T (p.Pro1115Ser)
c.3334C>T (p.Pro1112Ser)
c.3295C>T (p.Pro1099Ser)
c.3241C>T (p.Pro1081Ser)
c.3145C>T (p.Pro1049Ser)
c.3115C>T (p.Pro1039Ser)
c.3040C>T (p.Pro1014Ser)
c.2938C>T (p.Pro980Ser)
c.2569C>T (p.Pro857Ser)
 ClinVar dbSNP
5g.112839013delCA2695204937APCc.3084del (n.3084del)
c.3473del (p.Pro1158LeufsTer25)
c.*3425del (n.*3425del)
c.3365del (p.Pro1122LeufsTer25)
c.3419del (p.Pro1140LeufsTer25)
c.1772del
c.3365del (p.Pro1122LeufsTer?)
c.*2741del (n.*2741del)
c.230+10041del
c.3449del (p.Pro1150LeufsTer25)
c.3344del (p.Pro1115LeufsTer25)
c.3335del (p.Pro1112LeufsTer25)
c.3296del (p.Pro1099LeufsTer25)
c.3242del (p.Pro1081LeufsTer25)
c.3146del (p.Pro1049LeufsTer25)
c.3116del (p.Pro1039LeufsTer25)
c.3041del (p.Pro1014LeufsTer25)
c.2939del (p.Pro980LeufsTer25)
c.2570del (p.Pro857LeufsTer25)
5g.112839013C>ACA16028828APCc.3084C>A (n.3084C>A)
c.3473C>A (p.Pro1158His)
c.*3425C>A (n.*3425C>A)
c.3365C>A (p.Pro1122His)
c.3419C>A (p.Pro1140His)
c.1772C>A
c.*2741C>A (n.*2741C>A)
c.230+10041C>A
c.3449C>A (p.Pro1150His)
c.3344C>A (p.Pro1115His)
c.3335C>A (p.Pro1112His)
c.3296C>A (p.Pro1099His)
c.3242C>A (p.Pro1081His)
c.3146C>A (p.Pro1049His)
c.3116C>A (p.Pro1039His)
c.3041C>A (p.Pro1014His)
c.2939C>A (p.Pro980His)
c.2570C>A (p.Pro857His)
 dbSNP
5g.112839013C=CA1573488194APCc.3084C= (n.3084C=)
c.3473C= (p.Pro1158=)
c.*3425C= (n.*3425C=)
c.3365C= (p.Pro1122=)
c.3419C= (p.Pro1140=)
c.1772C=
c.*2741C= (n.*2741C=)
c.230+10041C=
c.3449C= (p.Pro1150=)
c.3344C= (p.Pro1115=)
c.3335C= (p.Pro1112=)
c.3296C= (p.Pro1099=)
c.3242C= (p.Pro1081=)
c.3146C= (p.Pro1049=)
c.3116C= (p.Pro1039=)
c.3041C= (p.Pro1014=)
c.2939C= (p.Pro980=)
c.2570C= (p.Pro857=)
5g.112839013C>GCA16028829APCc.3084C>G (n.3084C>G)
c.3473C>G (p.Pro1158Arg)
c.*3425C>G (n.*3425C>G)
c.3365C>G (p.Pro1122Arg)
c.3419C>G (p.Pro1140Arg)
c.1772C>G
c.*2741C>G (n.*2741C>G)
c.230+10041C>G
c.3449C>G (p.Pro1150Arg)
c.3344C>G (p.Pro1115Arg)
c.3335C>G (p.Pro1112Arg)
c.3296C>G (p.Pro1099Arg)
c.3242C>G (p.Pro1081Arg)
c.3146C>G (p.Pro1049Arg)
c.3116C>G (p.Pro1039Arg)
c.3041C>G (p.Pro1014Arg)
c.2939C>G (p.Pro980Arg)
c.2570C>G (p.Pro857Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112839013C>TCA16028830APCc.3084C>T (n.3084C>T)
c.3473C>T (p.Pro1158Leu)
c.*3425C>T (n.*3425C>T)
c.3365C>T (p.Pro1122Leu)
c.3419C>T (p.Pro1140Leu)
c.1772C>T
c.*2741C>T (n.*2741C>T)
c.230+10041C>T
c.3449C>T (p.Pro1150Leu)
c.3344C>T (p.Pro1115Leu)
c.3335C>T (p.Pro1112Leu)
c.3296C>T (p.Pro1099Leu)
c.3242C>T (p.Pro1081Leu)
c.3146C>T (p.Pro1049Leu)
c.3116C>T (p.Pro1039Leu)
c.3041C>T (p.Pro1014Leu)
c.2939C>T (p.Pro980Leu)
c.2570C>T (p.Pro857Leu)
 ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched