Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23340809_23340810delinsGACA2078643189SACSc.3066_3067delinsTC (p.Ser1022=)
c.2186-11326_2186-11325delinsTC (p.=)
c.2431+635_2431+636delinsTC (p.=)
c.816_817delinsTC (p.Ser272=)
n.1058-11326_1058-11325delinsTC (p.=)
n.2129+635_2129+636delinsTC
c.2625_2626delinsTC (p.Ser875=)
c.3093_3094delinsTC (p.Ser1031=)
c.3117_3118delinsTC (p.Ser1039=)
c.3084_3085delinsTC (p.Ser1028=)
c.3057_3058delinsTC (p.Ser1019=)
13g.23340810delCA16041643SACSc.3066del (p.Asn1025MetfsTer10)
c.2186-11326del (p.=)
c.2431+635del (p.=)
c.816del (p.Asn275MetfsTer10)
n.1058-11326del (p.=)
n.2129+635del
c.2625del (p.Asn878MetfsTer10)
c.3093del (p.Asn1034MetfsTer10)
c.3117del (p.Asn1042MetfsTer10)
c.3084del (p.Asn1031MetfsTer10)
c.3057del (p.Asn1022MetfsTer10)
ClinVar dbSNP
13g.23340810A>CCA483163430SACSc.3066T>G (p.Ser1022=)
c.2186-11326T>G (p.=)
c.2431+635T>G (p.=)
c.816T>G (p.Ser272=)
n.1058-11326T>G (p.=)
n.2129+635T>G
c.2625T>G (p.Ser875=)
c.3093T>G (p.Ser1031=)
c.3117T>G (p.Ser1039=)
c.3084T>G (p.Ser1028=)
c.3057T>G (p.Ser1019=)
13g.23340810A>GCA483163431SACSc.3066T>C (p.Ser1022=)
c.2186-11326T>C (p.=)
c.2431+635T>C (p.=)
c.816T>C (p.Ser272=)
n.1058-11326T>C (p.=)
n.2129+635T>C
c.2625T>C (p.Ser875=)
c.3093T>C (p.Ser1031=)
c.3117T>C (p.Ser1039=)
c.3084T>C (p.Ser1028=)
c.3057T>C (p.Ser1019=)
13g.23340810A>TCA483163432SACSc.3066T>A (p.Ser1022=)
c.2186-11326T>A (p.=)
c.2431+635T>A (p.=)
c.816T>A (p.Ser272=)
n.1058-11326T>A (p.=)
n.2129+635T>A
c.2625T>A (p.Ser875=)
c.3093T>A (p.Ser1031=)
c.3117T>A (p.Ser1039=)
c.3084T>A (p.Ser1028=)
c.3057T>A (p.Ser1019=)
13g.23340811G>ACA387536869SACSc.3065C>T (p.Ser1022Phe)
c.2186-11327C>T (p.=)
c.2431+634C>T (p.=)
c.815C>T (p.Ser272Phe)
n.1058-11327C>T (p.=)
n.2129+634C>T
c.2624C>T (p.Ser875Phe)
c.3092C>T (p.Ser1031Phe)
c.3116C>T (p.Ser1039Phe)
c.3083C>T (p.Ser1028Phe)
c.3056C>T (p.Ser1019Phe)
13g.23340811G>CCA387536867SACSc.3065C>G (p.Ser1022Cys)
c.2186-11327C>G (p.=)
c.2431+634C>G (p.=)
c.815C>G (p.Ser272Cys)
n.1058-11327C>G (p.=)
n.2129+634C>G
c.2624C>G (p.Ser875Cys)
c.3092C>G (p.Ser1031Cys)
c.3116C>G (p.Ser1039Cys)
c.3083C>G (p.Ser1028Cys)
c.3056C>G (p.Ser1019Cys)
13g.23340811G>TCA387536868SACSc.3065C>A (p.Ser1022Tyr)
c.2186-11327C>A (p.=)
c.2431+634C>A (p.=)
c.815C>A (p.Ser272Tyr)
n.1058-11327C>A (p.=)
n.2129+634C>A
c.2624C>A (p.Ser875Tyr)
c.3092C>A (p.Ser1031Tyr)
c.3116C>A (p.Ser1039Tyr)
c.3083C>A (p.Ser1028Tyr)
c.3056C>A (p.Ser1019Tyr)
13g.23340812A=CA2078643196SACSc.3064T= (p.Ser1022=)
c.2186-11328T= (p.=)
c.2431+633T= (p.=)
c.814T= (p.Ser272=)
n.1058-11328T= (p.=)
n.2129+633T=
c.2623T= (p.Ser875=)
c.3091T= (p.Ser1031=)
c.3115T= (p.Ser1039=)
c.3082T= (p.Ser1028=)
c.3055T= (p.Ser1019=)
13g.23340812A>CCA387536870SACSc.3064T>G (p.Ser1022Ala)
c.2186-11328T>G (p.=)
c.2431+633T>G (p.=)
c.814T>G (p.Ser272Ala)
n.1058-11328T>G (p.=)
n.2129+633T>G
c.2623T>G (p.Ser875Ala)
c.3091T>G (p.Ser1031Ala)
c.3115T>G (p.Ser1039Ala)
c.3082T>G (p.Ser1028Ala)
c.3055T>G (p.Ser1019Ala)
13g.23340812A>GCA387536871SACSc.3064T>C (p.Ser1022Pro)
c.2186-11328T>C (p.=)
c.2431+633T>C (p.=)
c.814T>C (p.Ser272Pro)
n.1058-11328T>C (p.=)
n.2129+633T>C
c.2623T>C (p.Ser875Pro)
c.3091T>C (p.Ser1031Pro)
c.3115T>C (p.Ser1039Pro)
c.3082T>C (p.Ser1028Pro)
c.3055T>C (p.Ser1019Pro)
13g.23340812A>TCA387536872SACSc.3064T>A (p.Ser1022Thr)
c.2186-11328T>A (p.=)
c.2431+633T>A (p.=)
c.814T>A (p.Ser272Thr)
n.1058-11328T>A (p.=)
n.2129+633T>A
c.2623T>A (p.Ser875Thr)
c.3091T>A (p.Ser1031Thr)
c.3115T>A (p.Ser1039Thr)
c.3082T>A (p.Ser1028Thr)
c.3055T>A (p.Ser1019Thr)
13g.23340813A=CA2078643198SACSc.3063T= (p.Ser1021=)
c.2186-11329T= (p.=)
c.2431+632T= (p.=)
c.813T= (p.Ser271=)
n.1058-11329T= (p.=)
n.2129+632T=
c.2622T= (p.Ser874=)
c.3090T= (p.Ser1030=)
c.3114T= (p.Ser1038=)
c.3081T= (p.Ser1027=)
c.3054T= (p.Ser1018=)
13g.23340813A>CCA246662618SACSc.3063T>G (p.Ser1021=)
c.2186-11329T>G (p.=)
c.2431+632T>G (p.=)
c.813T>G (p.Ser271=)
n.1058-11329T>G (p.=)
n.2129+632T>G
c.2622T>G (p.Ser874=)
c.3090T>G (p.Ser1030=)
c.3114T>G (p.Ser1038=)
c.3081T>G (p.Ser1027=)
c.3054T>G (p.Ser1018=)
dbSNP
13g.23340813A>GCA483163433SACSc.3063T>C (p.Ser1021=)
c.2186-11329T>C (p.=)
c.2431+632T>C (p.=)
c.813T>C (p.Ser271=)
n.1058-11329T>C (p.=)
n.2129+632T>C
c.2622T>C (p.Ser874=)
c.3090T>C (p.Ser1030=)
c.3114T>C (p.Ser1038=)
c.3081T>C (p.Ser1027=)
c.3054T>C (p.Ser1018=)
13g.23340813A>TCA483163434SACSc.3063T>A (p.Ser1021=)
c.2186-11329T>A (p.=)
c.2431+632T>A (p.=)
c.813T>A (p.Ser271=)
n.1058-11329T>A (p.=)
n.2129+632T>A
c.2622T>A (p.Ser874=)
c.3090T>A (p.Ser1030=)
c.3114T>A (p.Ser1038=)
c.3081T>A (p.Ser1027=)
c.3054T>A (p.Ser1018=)
13g.23340814G>ACA387536873SACSc.3062C>T (p.Ser1021Phe)
c.2186-11330C>T (p.=)
c.2431+631C>T (p.=)
c.812C>T (p.Ser271Phe)
n.1058-11330C>T (p.=)
n.2129+631C>T
c.2621C>T (p.Ser874Phe)
c.3089C>T (p.Ser1030Phe)
c.3113C>T (p.Ser1038Phe)
c.3080C>T (p.Ser1027Phe)
c.3053C>T (p.Ser1018Phe)
13g.23340814G>CCA387536874SACSc.3062C>G (p.Ser1021Cys)
c.2186-11330C>G (p.=)
c.2431+631C>G (p.=)
c.812C>G (p.Ser271Cys)
n.1058-11330C>G (p.=)
n.2129+631C>G
c.2621C>G (p.Ser874Cys)
c.3089C>G (p.Ser1030Cys)
c.3113C>G (p.Ser1038Cys)
c.3080C>G (p.Ser1027Cys)
c.3053C>G (p.Ser1018Cys)
13g.23340814G>TCA387536875SACSc.3062C>A (p.Ser1021Tyr)
c.2186-11330C>A (p.=)
c.2431+631C>A (p.=)
c.812C>A (p.Ser271Tyr)
n.1058-11330C>A (p.=)
n.2129+631C>A
c.2621C>A (p.Ser874Tyr)
c.3089C>A (p.Ser1030Tyr)
c.3113C>A (p.Ser1038Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3053C>A (p.Ser1018Tyr)
COSMIC COSMIC
13g.23340815A>CCA387536876SACSc.3061T>G (p.Ser1021Ala)
c.2186-11331T>G (p.=)
c.2431+630T>G (p.=)
c.811T>G (p.Ser271Ala)
n.1058-11331T>G (p.=)
n.2129+630T>G
c.2620T>G (p.Ser874Ala)
c.3088T>G (p.Ser1030Ala)
c.3112T>G (p.Ser1038Ala)
c.3079T>G (p.Ser1027Ala)
c.3052T>G (p.Ser1018Ala)
13g.23340815A>GCA387536877SACSc.3061T>C (p.Ser1021Pro)
c.2186-11331T>C (p.=)
c.2431+630T>C (p.=)
c.811T>C (p.Ser271Pro)
n.1058-11331T>C (p.=)
n.2129+630T>C
c.2620T>C (p.Ser874Pro)
c.3088T>C (p.Ser1030Pro)
c.3112T>C (p.Ser1038Pro)
c.3079T>C (p.Ser1027Pro)
c.3052T>C (p.Ser1018Pro)
13g.23340815A>TCA387536878SACSc.3061T>A (p.Ser1021Thr)
c.2186-11331T>A (p.=)
c.2431+630T>A (p.=)
c.811T>A (p.Ser271Thr)
n.1058-11331T>A (p.=)
n.2129+630T>A
c.2620T>A (p.Ser874Thr)
c.3088T>A (p.Ser1030Thr)
c.3112T>A (p.Ser1038Thr)
c.3079T>A (p.Ser1027Thr)
c.3052T>A (p.Ser1018Thr)
13g.23340816T>ACA483163435SACSc.3060A>T (p.Leu1020=)
c.2186-11332A>T (p.=)
c.2431+629A>T (p.=)
c.810A>T (p.Leu270=)
n.1058-11332A>T (p.=)
n.2129+629A>T
c.2619A>T (p.Leu873=)
c.3087A>T (p.Leu1029=)
c.3111A>T (p.Leu1037=)
c.3078A>T (p.Leu1026=)
c.3051A>T (p.Leu1017=)
13g.23340816T>CCA6911572SACSc.3060A>G (p.Leu1020=)
c.2186-11332A>G (p.=)
c.2431+629A>G (p.=)
c.810A>G (p.Leu270=)
n.1058-11332A>G (p.=)
n.2129+629A>G
c.2619A>G (p.Leu873=)
c.3087A>G (p.Leu1029=)
c.3111A>G (p.Leu1037=)
c.3078A>G (p.Leu1026=)
c.3051A>G (p.Leu1017=)
ClinVar dbSNP ExAC gnomAD
13g.23340816T>GCA483163436SACSc.3060A>C (p.Leu1020=)
c.2186-11332A>C (p.=)
c.2431+629A>C (p.=)
c.810A>C (p.Leu270=)
n.1058-11332A>C (p.=)
n.2129+629A>C
c.2619A>C (p.Leu873=)
c.3087A>C (p.Leu1029=)
c.3111A>C (p.Leu1037=)
c.3078A>C (p.Leu1026=)
c.3051A>C (p.Leu1017=)
ClinVar
13g.23340816T=CA2078643204SACSc.3060A= (p.Leu1020=)
c.2186-11332A= (p.=)
c.2431+629A= (p.=)
c.810A= (p.Leu270=)
n.1058-11332A= (p.=)
n.2129+629A=
c.2619A= (p.Leu873=)
c.3087A= (p.Leu1029=)
c.3111A= (p.Leu1037=)
c.3078A= (p.Leu1026=)
c.3051A= (p.Leu1017=)
13g.23340817A>CCA387536879SACSc.3059T>G (p.Leu1020Arg)
c.2186-11333T>G (p.=)
c.2431+628T>G (p.=)
c.809T>G (p.Leu270Arg)
n.1058-11333T>G (p.=)
n.2129+628T>G
c.2618T>G (p.Leu873Arg)
c.3086T>G (p.Leu1029Arg)
c.3110T>G (p.Leu1037Arg)
c.3077T>G (p.Leu1026Arg)
c.3050T>G (p.Leu1017Arg)
13g.23340817A>GCA387536880SACSc.3059T>C (p.Leu1020Pro)
c.2186-11333T>C (p.=)
c.2431+628T>C (p.=)
c.809T>C (p.Leu270Pro)
n.1058-11333T>C (p.=)
n.2129+628T>C
c.2618T>C (p.Leu873Pro)
c.3086T>C (p.Leu1029Pro)
c.3110T>C (p.Leu1037Pro)
c.3077T>C (p.Leu1026Pro)
c.3050T>C (p.Leu1017Pro)
13g.23340817A>TCA387536881SACSc.3059T>A (p.Leu1020Gln)
c.2186-11333T>A (p.=)
c.2431+628T>A (p.=)
c.809T>A (p.Leu270Gln)
n.1058-11333T>A (p.=)
n.2129+628T>A
c.2618T>A (p.Leu873Gln)
c.3086T>A (p.Leu1029Gln)
c.3110T>A (p.Leu1037Gln)
c.3077T>A (p.Leu1026Gln)
c.3050T>A (p.Leu1017Gln)
13g.23340817dupCA1139663009SACSc.3059dup (p.Ser1021IlefsTer4)
c.2186-11333dup (p.=)
c.2431+628dup (p.=)
c.809dup (p.Ser271IlefsTer4)
n.1058-11333dup (p.=)
n.2129+628dup
c.2618dup (p.Ser874IlefsTer4)
c.3086dup (p.Ser1030IlefsTer4)
c.3110dup (p.Ser1038IlefsTer4)
c.3077dup (p.Ser1027IlefsTer4)
c.3050dup (p.Ser1018IlefsTer4)
ClinVar dbSNP
13g.23340818G>ACA483163437SACSc.3058C>T (p.Leu1020=)
c.2186-11334C>T (p.=)
c.2431+627C>T (p.=)
c.808C>T (p.Leu270=)
n.1058-11334C>T (p.=)
n.2129+627C>T
c.2617C>T (p.Leu873=)
c.3085C>T (p.Leu1029=)
c.3109C>T (p.Leu1037=)
c.3076C>T (p.Leu1026=)
c.3049C>T (p.Leu1017=)
13g.23340818G>CCA387536883SACSc.3058C>G (p.Leu1020Val)
c.2186-11334C>G (p.=)
c.2431+627C>G (p.=)
c.808C>G (p.Leu270Val)
n.1058-11334C>G (p.=)
n.2129+627C>G
c.2617C>G (p.Leu873Val)
c.3085C>G (p.Leu1029Val)
c.3109C>G (p.Leu1037Val)
c.3076C>G (p.Leu1026Val)
c.3049C>G (p.Leu1017Val)
13g.23340818G>TCA387536882SACSc.3058C>A (p.Leu1020Ile)
c.2186-11334C>A (p.=)
c.2431+627C>A (p.=)
c.808C>A (p.Leu270Ile)
n.1058-11334C>A (p.=)
n.2129+627C>A
c.2617C>A (p.Leu873Ile)
c.3085C>A (p.Leu1029Ile)
c.3109C>A (p.Leu1037Ile)
c.3076C>A (p.Leu1026Ile)
c.3049C>A (p.Leu1017Ile)
13g.23340819A>CCA387536884SACSc.3057T>G (p.Asn1019Lys)
c.2186-11335T>G (p.=)
c.2431+626T>G (p.=)
c.807T>G (p.Asn269Lys)
n.1058-11335T>G (p.=)
n.2129+626T>G
c.2616T>G (p.Asn872Lys)
c.3084T>G (p.Asn1028Lys)
c.3108T>G (p.Asn1036Lys)
c.3075T>G (p.Asn1025Lys)
c.3048T>G (p.Asn1016Lys)
13g.23340819A>GCA483163438SACSc.3057T>C (p.Asn1019=)
c.2186-11335T>C (p.=)
c.2431+626T>C (p.=)
c.807T>C (p.Asn269=)
n.1058-11335T>C (p.=)
n.2129+626T>C
c.2616T>C (p.Asn872=)
c.3084T>C (p.Asn1028=)
c.3108T>C (p.Asn1036=)
c.3075T>C (p.Asn1025=)
c.3048T>C (p.Asn1016=)
13g.23340819A>TCA387536885SACSc.3057T>A (p.Asn1019Lys)
c.2186-11335T>A (p.=)
c.2431+626T>A (p.=)
c.807T>A (p.Asn269Lys)
n.1058-11335T>A (p.=)
n.2129+626T>A
c.2616T>A (p.Asn872Lys)
c.3084T>A (p.Asn1028Lys)
c.3108T>A (p.Asn1036Lys)
c.3075T>A (p.Asn1025Lys)
c.3048T>A (p.Asn1016Lys)
13g.23340820T>ACA387536886SACSc.3056A>T (p.Asn1019Ile)
c.2186-11336A>T (p.=)
c.2431+625A>T (p.=)
c.806A>T (p.Asn269Ile)
n.1058-11336A>T (p.=)
n.2129+625A>T
c.2615A>T (p.Asn872Ile)
c.3083A>T (p.Asn1028Ile)
c.3107A>T (p.Asn1036Ile)
c.3074A>T (p.Asn1025Ile)
c.3047A>T (p.Asn1016Ile)
13g.23340820T>CCA387536887SACSc.3056A>G (p.Asn1019Ser)
c.2186-11336A>G (p.=)
c.2431+625A>G (p.=)
c.806A>G (p.Asn269Ser)
n.1058-11336A>G (p.=)
n.2129+625A>G
c.2615A>G (p.Asn872Ser)
c.3083A>G (p.Asn1028Ser)
c.3107A>G (p.Asn1036Ser)
c.3074A>G (p.Asn1025Ser)
c.3047A>G (p.Asn1016Ser)
13g.23340820T>GCA387536888SACSc.3056A>C (p.Asn1019Thr)
c.2186-11336A>C (p.=)
c.2431+625A>C (p.=)
c.806A>C (p.Asn269Thr)
n.1058-11336A>C (p.=)
n.2129+625A>C
c.2615A>C (p.Asn872Thr)
c.3083A>C (p.Asn1028Thr)
c.3107A>C (p.Asn1036Thr)
c.3074A>C (p.Asn1025Thr)
c.3047A>C (p.Asn1016Thr)
13g.23340821T>ACA387536889SACSc.3055A>T (p.Asn1019Tyr)
c.2186-11337A>T (p.=)
c.2431+624A>T (p.=)
c.805A>T (p.Asn269Tyr)
n.1058-11337A>T (p.=)
n.2129+624A>T
c.2614A>T (p.Asn872Tyr)
c.3082A>T (p.Asn1028Tyr)
c.3106A>T (p.Asn1036Tyr)
c.3073A>T (p.Asn1025Tyr)
c.3046A>T (p.Asn1016Tyr)
13g.23340821T>CCA387536890SACSc.3055A>G (p.Asn1019Asp)
c.2186-11337A>G (p.=)
c.2431+624A>G (p.=)
c.805A>G (p.Asn269Asp)
n.1058-11337A>G (p.=)
n.2129+624A>G
c.2614A>G (p.Asn872Asp)
c.3082A>G (p.Asn1028Asp)
c.3106A>G (p.Asn1036Asp)
c.3073A>G (p.Asn1025Asp)
c.3046A>G (p.Asn1016Asp)
ClinVar
13g.23340821T>GCA387536891SACSc.3055A>C (p.Asn1019His)
c.2186-11337A>C (p.=)
c.2431+624A>C (p.=)
c.805A>C (p.Asn269His)
n.1058-11337A>C (p.=)
n.2129+624A>C
c.2614A>C (p.Asn872His)
c.3082A>C (p.Asn1028His)
c.3106A>C (p.Asn1036His)
c.3073A>C (p.Asn1025His)
c.3046A>C (p.Asn1016His)
13g.23340821T=CA2078643214SACSc.3055A= (p.Asn1019=)
c.2186-11337A= (p.=)
c.2431+624A= (p.=)
c.805A= (p.Asn269=)
n.1058-11337A= (p.=)
n.2129+624A=
c.2614A= (p.Asn872=)
c.3082A= (p.Asn1028=)
c.3106A= (p.Asn1036=)
c.3073A= (p.Asn1025=)
c.3046A= (p.Asn1016=)
13g.23340822C>ACA387536892SACSc.3054G>T (p.Glu1018Asp)
c.2186-11338G>T (p.=)
c.2431+623G>T (p.=)
c.804G>T (p.Glu268Asp)
n.1058-11338G>T (p.=)
n.2129+623G>T
c.2613G>T (p.Glu871Asp)
c.3081G>T (p.Glu1027Asp)
c.3105G>T (p.Glu1035Asp)
c.3072G>T (p.Glu1024Asp)
c.3045G>T (p.Glu1015Asp)
13g.23340822C>GCA387536893SACSc.3054G>C (p.Glu1018Asp)
c.2186-11338G>C (p.=)
c.2431+623G>C (p.=)
c.804G>C (p.Glu268Asp)
n.1058-11338G>C (p.=)
n.2129+623G>C
c.2613G>C (p.Glu871Asp)
c.3081G>C (p.Glu1027Asp)
c.3105G>C (p.Glu1035Asp)
c.3072G>C (p.Glu1024Asp)
c.3045G>C (p.Glu1015Asp)
COSMIC
13g.23340822C>TCA483163440SACSc.3054G>A (p.Glu1018=)
c.2186-11338G>A (p.=)
c.2431+623G>A (p.=)
c.804G>A (p.Glu268=)
n.1058-11338G>A (p.=)
n.2129+623G>A
c.2613G>A (p.Glu871=)
c.3081G>A (p.Glu1027=)
c.3105G>A (p.Glu1035=)
c.3072G>A (p.Glu1024=)
c.3045G>A (p.Glu1015=)
13g.23340823T>ACA387536894SACSc.3053A>T (p.Glu1018Val)
c.2186-11339A>T (p.=)
c.2431+622A>T (p.=)
c.803A>T (p.Glu268Val)
n.1058-11339A>T (p.=)
n.2129+622A>T
c.2612A>T (p.Glu871Val)
c.3080A>T (p.Glu1027Val)
c.3104A>T (p.Glu1035Val)
c.3071A>T (p.Glu1024Val)
c.3044A>T (p.Glu1015Val)
13g.23340823T>CCA387536895SACSc.3053A>G (p.Glu1018Gly)
c.2186-11339A>G (p.=)
c.2431+622A>G (p.=)
c.803A>G (p.Glu268Gly)
n.1058-11339A>G (p.=)
n.2129+622A>G
c.2612A>G (p.Glu871Gly)
c.3080A>G (p.Glu1027Gly)
c.3104A>G (p.Glu1035Gly)
c.3071A>G (p.Glu1024Gly)
c.3044A>G (p.Glu1015Gly)
13g.23340823T>GCA387536896SACSc.3053A>C (p.Glu1018Ala)
c.2186-11339A>C (p.=)
c.2431+622A>C (p.=)
c.803A>C (p.Glu268Ala)
n.1058-11339A>C (p.=)
n.2129+622A>C
c.2612A>C (p.Glu871Ala)
c.3080A>C (p.Glu1027Ala)
c.3104A>C (p.Glu1035Ala)
c.3071A>C (p.Glu1024Ala)
c.3044A>C (p.Glu1015Ala)
13g.23340824C>ACA387536897SACSc.3052G>T (p.Glu1018Ter)
c.2186-11340G>T (p.=)
c.2431+621G>T (p.=)
c.802G>T (p.Glu268Ter)
n.1058-11340G>T (p.=)
n.2129+621G>T
c.2611G>T (p.Glu871Ter)
c.3079G>T (p.Glu1027Ter)
c.3103G>T (p.Glu1035Ter)
c.3070G>T (p.Glu1024Ter)
c.3043G>T (p.Glu1015Ter)

Number of alleles fetched