Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23340710G>ACA387536640SACSc.3166C>T (p.Pro1056Ser)
c.2186-11226C>T (p.=)
c.2431+735C>T (p.=)
c.916C>T (p.Pro306Ser)
n.1058-11226C>T (p.=)
n.2129+735C>T
c.2725C>T (p.Pro909Ser)
c.3193C>T (p.Pro1065Ser)
c.3217C>T (p.Pro1073Ser)
c.3184C>T (p.Pro1062Ser)
c.3157C>T (p.Pro1053Ser)
gnomAD
13g.23340710G>CCA387536638SACSc.3166C>G (p.Pro1056Ala)
c.2186-11226C>G (p.=)
c.2431+735C>G (p.=)
c.916C>G (p.Pro306Ala)
n.1058-11226C>G (p.=)
n.2129+735C>G
c.2725C>G (p.Pro909Ala)
c.3193C>G (p.Pro1065Ala)
c.3217C>G (p.Pro1073Ala)
c.3184C>G (p.Pro1062Ala)
c.3157C>G (p.Pro1053Ala)
13g.23340710G=CA2078643014SACSc.3166C= (p.Pro1056=)
c.2186-11226C= (p.=)
c.2431+735C= (p.=)
c.916C= (p.Pro306=)
n.1058-11226C= (p.=)
n.2129+735C=
c.2725C= (p.Pro909=)
c.3193C= (p.Pro1065=)
c.3217C= (p.Pro1073=)
c.3184C= (p.Pro1062=)
c.3157C= (p.Pro1053=)
13g.23340710G>TCA387536639SACSc.3166C>A (p.Pro1056Thr)
c.2186-11226C>A (p.=)
c.2431+735C>A (p.=)
c.916C>A (p.Pro306Thr)
n.1058-11226C>A (p.=)
n.2129+735C>A
c.2725C>A (p.Pro909Thr)
c.3193C>A (p.Pro1065Thr)
c.3217C>A (p.Pro1073Thr)
c.3184C>A (p.Pro1062Thr)
c.3157C>A (p.Pro1053Thr)
13g.23340711G>ACA483163376SACSc.3165C>T (p.Asp1055=)
c.2186-11227C>T (p.=)
c.2431+734C>T (p.=)
c.915C>T (p.Asp305=)
n.1058-11227C>T (p.=)
n.2129+734C>T
c.2724C>T (p.Asp908=)
c.3192C>T (p.Asp1064=)
c.3216C>T (p.Asp1072=)
c.3183C>T (p.Asp1061=)
c.3156C>T (p.Asp1052=)
gnomAD
13g.23340711G>CCA387536641SACSc.3165C>G (p.Asp1055Glu)
c.2186-11227C>G (p.=)
c.2431+734C>G (p.=)
c.915C>G (p.Asp305Glu)
n.1058-11227C>G (p.=)
n.2129+734C>G
c.2724C>G (p.Asp908Glu)
c.3192C>G (p.Asp1064Glu)
c.3216C>G (p.Asp1072Glu)
c.3183C>G (p.Asp1061Glu)
c.3156C>G (p.Asp1052Glu)
13g.23340711G=CA2078643017SACSc.3165C= (p.Asp1055=)
c.2186-11227C= (p.=)
c.2431+734C= (p.=)
c.915C= (p.Asp305=)
n.1058-11227C= (p.=)
n.2129+734C=
c.2724C= (p.Asp908=)
c.3192C= (p.Asp1064=)
c.3216C= (p.Asp1072=)
c.3183C= (p.Asp1061=)
c.3156C= (p.Asp1052=)
13g.23340711G>TCA387536642SACSc.3165C>A (p.Asp1055Glu)
c.2186-11227C>A (p.=)
c.2431+734C>A (p.=)
c.915C>A (p.Asp305Glu)
n.1058-11227C>A (p.=)
n.2129+734C>A
c.2724C>A (p.Asp908Glu)
c.3192C>A (p.Asp1064Glu)
c.3216C>A (p.Asp1072Glu)
c.3183C>A (p.Asp1061Glu)
c.3156C>A (p.Asp1052Glu)
13g.23340712T>ACA387536643SACSc.3164A>T (p.Asp1055Val)
c.2186-11228A>T (p.=)
c.2431+733A>T (p.=)
c.914A>T (p.Asp305Val)
n.1058-11228A>T (p.=)
n.2129+733A>T
c.2723A>T (p.Asp908Val)
c.3191A>T (p.Asp1064Val)
c.3215A>T (p.Asp1072Val)
c.3182A>T (p.Asp1061Val)
c.3155A>T (p.Asp1052Val)
13g.23340712T>CCA387536644SACSc.3164A>G (p.Asp1055Gly)
c.2186-11228A>G (p.=)
c.2431+733A>G (p.=)
c.914A>G (p.Asp305Gly)
n.1058-11228A>G (p.=)
n.2129+733A>G
c.2723A>G (p.Asp908Gly)
c.3191A>G (p.Asp1064Gly)
c.3215A>G (p.Asp1072Gly)
c.3182A>G (p.Asp1061Gly)
c.3155A>G (p.Asp1052Gly)
13g.23340712T>GCA387536645SACSc.3164A>C (p.Asp1055Ala)
c.2186-11228A>C (p.=)
c.2431+733A>C (p.=)
c.914A>C (p.Asp305Ala)
n.1058-11228A>C (p.=)
n.2129+733A>C
c.2723A>C (p.Asp908Ala)
c.3191A>C (p.Asp1064Ala)
c.3215A>C (p.Asp1072Ala)
c.3182A>C (p.Asp1061Ala)
c.3155A>C (p.Asp1052Ala)
13g.23340713C>ACA387536646SACSc.3163G>T (p.Asp1055Tyr)
c.2186-11229G>T (p.=)
c.2431+732G>T (p.=)
c.913G>T (p.Asp305Tyr)
n.1058-11229G>T (p.=)
n.2129+732G>T
c.2722G>T (p.Asp908Tyr)
c.3190G>T (p.Asp1064Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3181G>T (p.Asp1061Tyr)
c.3154G>T (p.Asp1052Tyr)
13g.23340713C>GCA387536648SACSc.3163G>C (p.Asp1055His)
c.2186-11229G>C (p.=)
c.2431+732G>C (p.=)
c.913G>C (p.Asp305His)
n.1058-11229G>C (p.=)
n.2129+732G>C
c.2722G>C (p.Asp908His)
c.3190G>C (p.Asp1064His)
c.3214G>C (p.Asp1072His)
c.3181G>C (p.Asp1061His)
c.3154G>C (p.Asp1052His)
13g.23340713C>TCA387536647SACSc.3163G>A (p.Asp1055Asn)
c.2186-11229G>A (p.=)
c.2431+732G>A (p.=)
c.913G>A (p.Asp305Asn)
n.1058-11229G>A (p.=)
n.2129+732G>A
c.2722G>A (p.Asp908Asn)
c.3190G>A (p.Asp1064Asn)
c.3214G>A (p.Asp1072Asn)
c.3181G>A (p.Asp1061Asn)
c.3154G>A (p.Asp1052Asn)
13g.23340714A>CCA387536649SACSc.3162T>G (p.Phe1054Leu)
c.2186-11230T>G (p.=)
c.2431+731T>G (p.=)
c.912T>G (p.Phe304Leu)
n.1058-11230T>G (p.=)
n.2129+731T>G
c.2721T>G (p.Phe907Leu)
c.3189T>G (p.Phe1063Leu)
c.3213T>G (p.Phe1071Leu)
c.3180T>G (p.Phe1060Leu)
c.3153T>G (p.Phe1051Leu)
13g.23340714A>GCA483163377SACSc.3162T>C (p.Phe1054=)
c.2186-11230T>C (p.=)
c.2431+731T>C (p.=)
c.912T>C (p.Phe304=)
n.1058-11230T>C (p.=)
n.2129+731T>C
c.2721T>C (p.Phe907=)
c.3189T>C (p.Phe1063=)
c.3213T>C (p.Phe1071=)
c.3180T>C (p.Phe1060=)
c.3153T>C (p.Phe1051=)
13g.23340714A>TCA387536650SACSc.3162T>A (p.Phe1054Leu)
c.2186-11230T>A (p.=)
c.2431+731T>A (p.=)
c.912T>A (p.Phe304Leu)
n.1058-11230T>A (p.=)
n.2129+731T>A
c.2721T>A (p.Phe907Leu)
c.3189T>A (p.Phe1063Leu)
c.3213T>A (p.Phe1071Leu)
c.3180T>A (p.Phe1060Leu)
c.3153T>A (p.Phe1051Leu)
13g.23340715A=CA2078643018SACSc.3161T= (p.Phe1054=)
c.2186-11231T= (p.=)
c.2431+730T= (p.=)
c.911T= (p.Phe304=)
n.1058-11231T= (p.=)
n.2129+730T=
c.2720T= (p.Phe907=)
c.3188T= (p.Phe1063=)
c.3212T= (p.Phe1071=)
c.3179T= (p.Phe1060=)
c.3152T= (p.Phe1051=)
13g.23340715A>CCA387536651SACSc.3161T>G (p.Phe1054Cys)
c.2186-11231T>G (p.=)
c.2431+730T>G (p.=)
c.911T>G (p.Phe304Cys)
n.1058-11231T>G (p.=)
n.2129+730T>G
c.2720T>G (p.Phe907Cys)
c.3188T>G (p.Phe1063Cys)
c.3212T>G (p.Phe1071Cys)
c.3179T>G (p.Phe1060Cys)
c.3152T>G (p.Phe1051Cys)
13g.23340715A>GCA253518SACSc.3161T>C (p.Phe1054Ser)
c.2186-11231T>C (p.=)
c.2431+730T>C (p.=)
c.911T>C (p.Phe304Ser)
n.1058-11231T>C (p.=)
n.2129+730T>C
c.2720T>C (p.Phe907Ser)
c.3188T>C (p.Phe1063Ser)
c.3212T>C (p.Phe1071Ser)
c.3179T>C (p.Phe1060Ser)
c.3152T>C (p.Phe1051Ser)
ClinVar dbSNP
13g.23340715A>TCA387536652SACSc.3161T>A (p.Phe1054Tyr)
c.2186-11231T>A (p.=)
c.2431+730T>A (p.=)
c.911T>A (p.Phe304Tyr)
n.1058-11231T>A (p.=)
n.2129+730T>A
c.2720T>A (p.Phe907Tyr)
c.3188T>A (p.Phe1063Tyr)
c.3212T>A (p.Phe1071Tyr)
c.3179T>A (p.Phe1060Tyr)
c.3152T>A (p.Phe1051Tyr)
13g.23340716A>CCA387536653SACSc.3160T>G (p.Phe1054Val)
c.2186-11232T>G (p.=)
c.2431+729T>G (p.=)
c.910T>G (p.Phe304Val)
n.1058-11232T>G (p.=)
n.2129+729T>G
c.2719T>G (p.Phe907Val)
c.3187T>G (p.Phe1063Val)
c.3211T>G (p.Phe1071Val)
c.3178T>G (p.Phe1060Val)
c.3151T>G (p.Phe1051Val)
13g.23340716A>GCA387536654SACSc.3160T>C (p.Phe1054Leu)
c.2186-11232T>C (p.=)
c.2431+729T>C (p.=)
c.910T>C (p.Phe304Leu)
n.1058-11232T>C (p.=)
n.2129+729T>C
c.2719T>C (p.Phe907Leu)
c.3187T>C (p.Phe1063Leu)
c.3211T>C (p.Phe1071Leu)
c.3178T>C (p.Phe1060Leu)
c.3151T>C (p.Phe1051Leu)
13g.23340716A>TCA387536655SACSc.3160T>A (p.Phe1054Ile)
c.2186-11232T>A (p.=)
c.2431+729T>A (p.=)
c.910T>A (p.Phe304Ile)
n.1058-11232T>A (p.=)
n.2129+729T>A
c.2719T>A (p.Phe907Ile)
c.3187T>A (p.Phe1063Ile)
c.3211T>A (p.Phe1071Ile)
c.3178T>A (p.Phe1060Ile)
c.3151T>A (p.Phe1051Ile)
13g.23340717G>ACA483163378SACSc.3159C>T (p.Leu1053=)
c.2186-11233C>T (p.=)
c.2431+728C>T (p.=)
c.909C>T (p.Leu303=)
n.1058-11233C>T (p.=)
n.2129+728C>T
c.2718C>T (p.Leu906=)
c.3186C>T (p.Leu1062=)
c.3210C>T (p.Leu1070=)
c.3177C>T (p.Leu1059=)
c.3150C>T (p.Leu1050=)
13g.23340717G>CCA483163379SACSc.3159C>G (p.Leu1053=)
c.2186-11233C>G (p.=)
c.2431+728C>G (p.=)
c.909C>G (p.Leu303=)
n.1058-11233C>G (p.=)
n.2129+728C>G
c.2718C>G (p.Leu906=)
c.3186C>G (p.Leu1062=)
c.3210C>G (p.Leu1070=)
c.3177C>G (p.Leu1059=)
c.3150C>G (p.Leu1050=)
13g.23340717G>TCA483163380SACSc.3159C>A (p.Leu1053=)
c.2186-11233C>A (p.=)
c.2431+728C>A (p.=)
c.909C>A (p.Leu303=)
n.1058-11233C>A (p.=)
n.2129+728C>A
c.2718C>A (p.Leu906=)
c.3186C>A (p.Leu1062=)
c.3210C>A (p.Leu1070=)
c.3177C>A (p.Leu1059=)
c.3150C>A (p.Leu1050=)
13g.23340718A>CCA387536656SACSc.3158T>G (p.Leu1053Arg)
c.2186-11234T>G (p.=)
c.2431+727T>G (p.=)
c.908T>G (p.Leu303Arg)
n.1058-11234T>G (p.=)
n.2129+727T>G
c.2717T>G (p.Leu906Arg)
c.3185T>G (p.Leu1062Arg)
c.3209T>G (p.Leu1070Arg)
c.3176T>G (p.Leu1059Arg)
c.3149T>G (p.Leu1050Arg)
13g.23340718A>GCA387536657SACSc.3158T>C (p.Leu1053Pro)
c.2186-11234T>C (p.=)
c.2431+727T>C (p.=)
c.908T>C (p.Leu303Pro)
n.1058-11234T>C (p.=)
n.2129+727T>C
c.2717T>C (p.Leu906Pro)
c.3185T>C (p.Leu1062Pro)
c.3209T>C (p.Leu1070Pro)
c.3176T>C (p.Leu1059Pro)
c.3149T>C (p.Leu1050Pro)
13g.23340718A>TCA387536658SACSc.3158T>A (p.Leu1053His)
c.2186-11234T>A (p.=)
c.2431+727T>A (p.=)
c.908T>A (p.Leu303His)
n.1058-11234T>A (p.=)
n.2129+727T>A
c.2717T>A (p.Leu906His)
c.3185T>A (p.Leu1062His)
c.3209T>A (p.Leu1070His)
c.3176T>A (p.Leu1059His)
c.3149T>A (p.Leu1050His)
13g.23340718_23340719insAAAGGATCA2541780167SACSc.3157_3158insATCCTTT (p.Leu1053HisfsTer5)
c.2186-11235_2186-11234insATCCTTT (p.=)
c.2431+726_2431+727insATCCTTT (p.=)
c.907_908insATCCTTT (p.Leu303HisfsTer5)
n.1058-11235_1058-11234insATCCTTT (p.=)
n.2129+726_2129+727insATCCTTT
c.2716_2717insATCCTTT (p.Leu906HisfsTer5)
c.3184_3185insATCCTTT (p.Leu1062HisfsTer5)
c.3208_3209insATCCTTT (p.Leu1070HisfsTer5)
c.3175_3176insATCCTTT (p.Leu1059HisfsTer5)
c.3148_3149insATCCTTT (p.Leu1050HisfsTer5)
13g.23340719G>ACA387536659SACSc.3157C>T (p.Leu1053Phe)
c.2186-11235C>T (p.=)
c.2431+726C>T (p.=)
c.907C>T (p.Leu303Phe)
n.1058-11235C>T (p.=)
n.2129+726C>T
c.2716C>T (p.Leu906Phe)
c.3184C>T (p.Leu1062Phe)
c.3208C>T (p.Leu1070Phe)
c.3175C>T (p.Leu1059Phe)
c.3148C>T (p.Leu1050Phe)
13g.23340719G>CCA387536661SACSc.3157C>G (p.Leu1053Val)
c.2186-11235C>G (p.=)
c.2431+726C>G (p.=)
c.907C>G (p.Leu303Val)
n.1058-11235C>G (p.=)
n.2129+726C>G
c.2716C>G (p.Leu906Val)
c.3184C>G (p.Leu1062Val)
c.3208C>G (p.Leu1070Val)
c.3175C>G (p.Leu1059Val)
c.3148C>G (p.Leu1050Val)
13g.23340719G>TCA387536660SACSc.3157C>A (p.Leu1053Ile)
c.2186-11235C>A (p.=)
c.2431+726C>A (p.=)
c.907C>A (p.Leu303Ile)
n.1058-11235C>A (p.=)
n.2129+726C>A
c.2716C>A (p.Leu906Ile)
c.3184C>A (p.Leu1062Ile)
c.3208C>A (p.Leu1070Ile)
c.3175C>A (p.Leu1059Ile)
c.3148C>A (p.Leu1050Ile)
13g.23340720T>ACA387536662SACSc.3156A>T (p.Glu1052Asp)
c.2186-11236A>T (p.=)
c.2431+725A>T (p.=)
c.906A>T (p.Glu302Asp)
n.1058-11236A>T (p.=)
n.2129+725A>T
c.2715A>T (p.Glu905Asp)
c.3183A>T (p.Glu1061Asp)
c.3207A>T (p.Glu1069Asp)
c.3174A>T (p.Glu1058Asp)
c.3147A>T (p.Glu1049Asp)
13g.23340720T>CCA483163381SACSc.3156A>G (p.Glu1052=)
c.2186-11236A>G (p.=)
c.2431+725A>G (p.=)
c.906A>G (p.Glu302=)
n.1058-11236A>G (p.=)
n.2129+725A>G
c.2715A>G (p.Glu905=)
c.3183A>G (p.Glu1061=)
c.3207A>G (p.Glu1069=)
c.3174A>G (p.Glu1058=)
c.3147A>G (p.Glu1049=)
13g.23340720T>GCA387536663SACSc.3156A>C (p.Glu1052Asp)
c.2186-11236A>C (p.=)
c.2431+725A>C (p.=)
c.906A>C (p.Glu302Asp)
n.1058-11236A>C (p.=)
n.2129+725A>C
c.2715A>C (p.Glu905Asp)
c.3183A>C (p.Glu1061Asp)
c.3207A>C (p.Glu1069Asp)
c.3174A>C (p.Glu1058Asp)
c.3147A>C (p.Glu1049Asp)
13g.23340721T>ACA387536664SACSc.3155A>T (p.Glu1052Val)
c.2186-11237A>T (p.=)
c.2431+724A>T (p.=)
c.905A>T (p.Glu302Val)
n.1058-11237A>T (p.=)
n.2129+724A>T
c.2714A>T (p.Glu905Val)
c.3182A>T (p.Glu1061Val)
c.3206A>T (p.Glu1069Val)
c.3173A>T (p.Glu1058Val)
c.3146A>T (p.Glu1049Val)
13g.23340721T>CCA387536665SACSc.3155A>G (p.Glu1052Gly)
c.2186-11237A>G (p.=)
c.2431+724A>G (p.=)
c.905A>G (p.Glu302Gly)
n.1058-11237A>G (p.=)
n.2129+724A>G
c.2714A>G (p.Glu905Gly)
c.3182A>G (p.Glu1061Gly)
c.3206A>G (p.Glu1069Gly)
c.3173A>G (p.Glu1058Gly)
c.3146A>G (p.Glu1049Gly)
13g.23340721T>GCA387536666SACSc.3155A>C (p.Glu1052Ala)
c.2186-11237A>C (p.=)
c.2431+724A>C (p.=)
c.905A>C (p.Glu302Ala)
n.1058-11237A>C (p.=)
n.2129+724A>C
c.2714A>C (p.Glu905Ala)
c.3182A>C (p.Glu1061Ala)
c.3206A>C (p.Glu1069Ala)
c.3173A>C (p.Glu1058Ala)
c.3146A>C (p.Glu1049Ala)
13g.23340722C>ACA387536669SACSc.3154G>T (p.Glu1052Ter)
c.2186-11238G>T (p.=)
c.2431+723G>T (p.=)
c.904G>T (p.Glu302Ter)
n.1058-11238G>T (p.=)
n.2129+723G>T
c.2713G>T (p.Glu905Ter)
c.3181G>T (p.Glu1061Ter)
c.3205G>T (p.Glu1069Ter)
c.3172G>T (p.Glu1058Ter)
c.3145G>T (p.Glu1049Ter)
13g.23340722C>GCA387536668SACSc.3154G>C (p.Glu1052Gln)
c.2186-11238G>C (p.=)
c.2431+723G>C (p.=)
c.904G>C (p.Glu302Gln)
n.1058-11238G>C (p.=)
n.2129+723G>C
c.2713G>C (p.Glu905Gln)
c.3181G>C (p.Glu1061Gln)
c.3205G>C (p.Glu1069Gln)
c.3172G>C (p.Glu1058Gln)
c.3145G>C (p.Glu1049Gln)
13g.23340722C>TCA387536667SACSc.3154G>A (p.Glu1052Lys)
c.2186-11238G>A (p.=)
c.2431+723G>A (p.=)
c.904G>A (p.Glu302Lys)
n.1058-11238G>A (p.=)
n.2129+723G>A
c.2713G>A (p.Glu905Lys)
c.3181G>A (p.Glu1061Lys)
c.3205G>A (p.Glu1069Lys)
c.3172G>A (p.Glu1058Lys)
c.3145G>A (p.Glu1049Lys)
13g.23340723A>CCA483163382SACSc.3153T>G (p.Gly1051=)
c.2186-11239T>G (p.=)
c.2431+722T>G (p.=)
c.903T>G (p.Gly301=)
n.1058-11239T>G (p.=)
n.2129+722T>G
c.2712T>G (p.Gly904=)
c.3180T>G (p.Gly1060=)
c.3204T>G (p.Gly1068=)
c.3171T>G (p.Gly1057=)
c.3144T>G (p.Gly1048=)
13g.23340723A>GCA483163384SACSc.3153T>C (p.Gly1051=)
c.2186-11239T>C (p.=)
c.2431+722T>C (p.=)
c.903T>C (p.Gly301=)
n.1058-11239T>C (p.=)
n.2129+722T>C
c.2712T>C (p.Gly904=)
c.3180T>C (p.Gly1060=)
c.3204T>C (p.Gly1068=)
c.3171T>C (p.Gly1057=)
c.3144T>C (p.Gly1048=)
13g.23340723A>TCA483163383SACSc.3153T>A (p.Gly1051=)
c.2186-11239T>A (p.=)
c.2431+722T>A (p.=)
c.903T>A (p.Gly301=)
n.1058-11239T>A (p.=)
n.2129+722T>A
c.2712T>A (p.Gly904=)
c.3180T>A (p.Gly1060=)
c.3204T>A (p.Gly1068=)
c.3171T>A (p.Gly1057=)
c.3144T>A (p.Gly1048=)
13g.23340724C>ACA387536670SACSc.3152G>T (p.Gly1051Val)
c.2186-11240G>T (p.=)
c.2431+721G>T (p.=)
c.902G>T (p.Gly301Val)
n.1058-11240G>T (p.=)
n.2129+721G>T
c.2711G>T (p.Gly904Val)
c.3179G>T (p.Gly1060Val)
c.3203G>T (p.Gly1068Val)
c.3170G>T (p.Gly1057Val)
c.3143G>T (p.Gly1048Val)
13g.23340724C=CA2078643024SACSc.3152G= (p.Gly1051=)
c.2186-11240G= (p.=)
c.2431+721G= (p.=)
c.902G= (p.Gly301=)
n.1058-11240G= (p.=)
n.2129+721G=
c.2711G= (p.Gly904=)
c.3179G= (p.Gly1060=)
c.3203G= (p.Gly1068=)
c.3170G= (p.Gly1057=)
c.3143G= (p.Gly1048=)
13g.23340724C>GCA387536671SACSc.3152G>C (p.Gly1051Ala)
c.2186-11240G>C (p.=)
c.2431+721G>C (p.=)
c.902G>C (p.Gly301Ala)
n.1058-11240G>C (p.=)
n.2129+721G>C
c.2711G>C (p.Gly904Ala)
c.3179G>C (p.Gly1060Ala)
c.3203G>C (p.Gly1068Ala)
c.3170G>C (p.Gly1057Ala)
c.3143G>C (p.Gly1048Ala)
13g.23340724C>TCA387536672SACSc.3152G>A (p.Gly1051Asp)
c.2186-11240G>A (p.=)
c.2431+721G>A (p.=)
c.902G>A (p.Gly301Asp)
n.1058-11240G>A (p.=)
n.2129+721G>A
c.2711G>A (p.Gly904Asp)
c.3179G>A (p.Gly1060Asp)
c.3203G>A (p.Gly1068Asp)
c.3170G>A (p.Gly1057Asp)
c.3143G>A (p.Gly1048Asp)

Number of alleles fetched