Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7125437C>ACA124211INSRc.3104G>T (p.Gly1035Val)
c.3068G>T (p.Gly1023Val)
c.3179G>T (p.Gly1060Val)
c.3143G>T (p.Gly1048Val)
c.3101G>T (p.Gly1034Val)
c.3065G>T (p.Gly1022Val)
ClinVar dbSNP
19g.7125437C=CA2320767964INSRc.3104G= (p.Gly1035=)
c.3068G= (p.Gly1023=)
c.3179G= (p.Gly1060=)
c.3143G= (p.Gly1048=)
c.3101G= (p.Gly1034=)
c.3065G= (p.Gly1022=)
19g.7125437C>GCA403671301INSRc.3104G>C (p.Gly1035Ala)
c.3068G>C (p.Gly1023Ala)
c.3179G>C (p.Gly1060Ala)
c.3143G>C (p.Gly1048Ala)
c.3101G>C (p.Gly1034Ala)
c.3065G>C (p.Gly1022Ala)
19g.7125437C>TCA403671302INSRc.3104G>A (p.Gly1035Asp)
c.3068G>A (p.Gly1023Asp)
c.3179G>A (p.Gly1060Asp)
c.3143G>A (p.Gly1048Asp)
c.3101G>A (p.Gly1034Asp)
c.3065G>A (p.Gly1022Asp)
19g.7125438C>ACA403671304INSRc.3103G>T (p.Gly1035Cys)
c.3067G>T (p.Gly1023Cys)
c.3178G>T (p.Gly1060Cys)
c.3142G>T (p.Gly1048Cys)
c.3100G>T (p.Gly1034Cys)
c.3064G>T (p.Gly1022Cys)
dbSNP
19g.7125438C=CA2320767965INSRc.3103G= (p.Gly1035=)
c.3067G= (p.Gly1023=)
c.3178G= (p.Gly1060=)
c.3142G= (p.Gly1048=)
c.3100G= (p.Gly1034=)
c.3064G= (p.Gly1022=)
19g.7125438C>GCA403671303INSRc.3103G>C (p.Gly1035Arg)
c.3067G>C (p.Gly1023Arg)
c.3178G>C (p.Gly1060Arg)
c.3142G>C (p.Gly1048Arg)
c.3100G>C (p.Gly1034Arg)
c.3064G>C (p.Gly1022Arg)
19g.7125438C>TCA9135359INSRc.3103G>A (p.Gly1035Ser)
c.3067G>A (p.Gly1023Ser)
c.3178G>A (p.Gly1060Ser)
c.3142G>A (p.Gly1048Ser)
c.3100G>A (p.Gly1034Ser)
c.3064G>A (p.Gly1022Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125439G>ACA9135360INSRc.3102C>T (p.Phe1034=)
c.3066C>T (p.Phe1022=)
c.3177C>T (p.Phe1059=)
c.3141C>T (p.Phe1047=)
c.3099C>T (p.Phe1033=)
c.3063C>T (p.Phe1021=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125439G>CCA403671305INSRc.3102C>G (p.Phe1034Leu)
c.3066C>G (p.Phe1022Leu)
c.3177C>G (p.Phe1059Leu)
c.3141C>G (p.Phe1047Leu)
c.3099C>G (p.Phe1033Leu)
c.3063C>G (p.Phe1021Leu)
19g.7125439G=CA2320767966INSRc.3102C= (p.Phe1034=)
c.3066C= (p.Phe1022=)
c.3177C= (p.Phe1059=)
c.3141C= (p.Phe1047=)
c.3099C= (p.Phe1033=)
c.3063C= (p.Phe1021=)
19g.7125439G>TCA403671306INSRc.3102C>A (p.Phe1034Leu)
c.3066C>A (p.Phe1022Leu)
c.3177C>A (p.Phe1059Leu)
c.3141C>A (p.Phe1047Leu)
c.3099C>A (p.Phe1033Leu)
c.3063C>A (p.Phe1021Leu)
19g.7125440A>CCA403671307INSRc.3101T>G (p.Phe1034Cys)
c.3065T>G (p.Phe1022Cys)
c.3176T>G (p.Phe1059Cys)
c.3140T>G (p.Phe1047Cys)
c.3098T>G (p.Phe1033Cys)
c.3062T>G (p.Phe1021Cys)
19g.7125440A>GCA403671308INSRc.3101T>C (p.Phe1034Ser)
c.3065T>C (p.Phe1022Ser)
c.3176T>C (p.Phe1059Ser)
c.3140T>C (p.Phe1047Ser)
c.3098T>C (p.Phe1033Ser)
c.3062T>C (p.Phe1021Ser)
19g.7125440A>TCA403671309INSRc.3101T>A (p.Phe1034Tyr)
c.3065T>A (p.Phe1022Tyr)
c.3176T>A (p.Phe1059Tyr)
c.3140T>A (p.Phe1047Tyr)
c.3098T>A (p.Phe1033Tyr)
c.3062T>A (p.Phe1021Tyr)
19g.7125441A>CCA403671310INSRc.3100T>G (p.Phe1034Val)
c.3064T>G (p.Phe1022Val)
c.3175T>G (p.Phe1059Val)
c.3139T>G (p.Phe1047Val)
c.3097T>G (p.Phe1033Val)
c.3061T>G (p.Phe1021Val)
19g.7125441A>GCA403671311INSRc.3100T>C (p.Phe1034Leu)
c.3064T>C (p.Phe1022Leu)
c.3175T>C (p.Phe1059Leu)
c.3139T>C (p.Phe1047Leu)
c.3097T>C (p.Phe1033Leu)
c.3061T>C (p.Phe1021Leu)
19g.7125441A>TCA403671312INSRc.3100T>A (p.Phe1034Ile)
c.3064T>A (p.Phe1022Ile)
c.3175T>A (p.Phe1059Ile)
c.3139T>A (p.Phe1047Ile)
c.3097T>A (p.Phe1033Ile)
c.3061T>A (p.Phe1021Ile)
19g.7125442G>ACA505400250INSRc.3099C>T (p.Ser1033=)
c.3063C>T (p.Ser1021=)
c.3174C>T (p.Ser1058=)
c.3138C>T (p.Ser1046=)
c.3096C>T (p.Ser1032=)
c.3060C>T (p.Ser1020=)
19g.7125442G>CCA505400251INSRc.3099C>G (p.Ser1033=)
c.3063C>G (p.Ser1021=)
c.3174C>G (p.Ser1058=)
c.3138C>G (p.Ser1046=)
c.3096C>G (p.Ser1032=)
c.3060C>G (p.Ser1020=)
19g.7125442G>TCA505400252INSRc.3099C>A (p.Ser1033=)
c.3063C>A (p.Ser1021=)
c.3174C>A (p.Ser1058=)
c.3138C>A (p.Ser1046=)
c.3096C>A (p.Ser1032=)
c.3060C>A (p.Ser1020=)
19g.7125443G>ACA9135361INSRc.3098C>T (p.Ser1033Phe)
c.3062C>T (p.Ser1021Phe)
c.3173C>T (p.Ser1058Phe)
c.3137C>T (p.Ser1046Phe)
c.3095C>T (p.Ser1032Phe)
c.3059C>T (p.Ser1020Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125443G>CCA403671313INSRc.3098C>G (p.Ser1033Cys)
c.3062C>G (p.Ser1021Cys)
c.3173C>G (p.Ser1058Cys)
c.3137C>G (p.Ser1046Cys)
c.3095C>G (p.Ser1032Cys)
c.3059C>G (p.Ser1020Cys)
19g.7125443G=CA2320767967INSRc.3098C= (p.Ser1033=)
c.3062C= (p.Ser1021=)
c.3173C= (p.Ser1058=)
c.3137C= (p.Ser1046=)
c.3095C= (p.Ser1032=)
c.3059C= (p.Ser1020=)
19g.7125443G>TCA403671314INSRc.3098C>A (p.Ser1033Tyr)
c.3062C>A (p.Ser1021Tyr)
c.3173C>A (p.Ser1058Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3095C>A (p.Ser1032Tyr)
c.3059C>A (p.Ser1020Tyr)
19g.7125444A>CCA403671317INSRc.3097T>G (p.Ser1033Ala)
c.3061T>G (p.Ser1021Ala)
c.3172T>G (p.Ser1058Ala)
c.3136T>G (p.Ser1046Ala)
c.3094T>G (p.Ser1032Ala)
c.3058T>G (p.Ser1020Ala)
19g.7125444A>GCA403671316INSRc.3097T>C (p.Ser1033Pro)
c.3061T>C (p.Ser1021Pro)
c.3172T>C (p.Ser1058Pro)
c.3136T>C (p.Ser1046Pro)
c.3094T>C (p.Ser1032Pro)
c.3058T>C (p.Ser1020Pro)
19g.7125444A>TCA403671315INSRc.3097T>A (p.Ser1033Thr)
c.3061T>A (p.Ser1021Thr)
c.3172T>A (p.Ser1058Thr)
c.3136T>A (p.Ser1046Thr)
c.3094T>A (p.Ser1032Thr)
c.3058T>A (p.Ser1020Thr)
19g.7125445G>ACA505400254INSRc.3096C>T (p.Gly1032=)
c.3060C>T (p.Gly1020=)
c.3171C>T (p.Gly1057=)
c.3135C>T (p.Gly1045=)
c.3093C>T (p.Gly1031=)
c.3057C>T (p.Gly1019=)
dbSNP gnomAD v2 gnomAD v4
19g.7125445G>CCA505400255INSRc.3096C>G (p.Gly1032=)
c.3060C>G (p.Gly1020=)
c.3171C>G (p.Gly1057=)
c.3135C>G (p.Gly1045=)
c.3093C>G (p.Gly1031=)
c.3057C>G (p.Gly1019=)
19g.7125445G=CA2320767968INSRc.3096C= (p.Gly1032=)
c.3060C= (p.Gly1020=)
c.3171C= (p.Gly1057=)
c.3135C= (p.Gly1045=)
c.3093C= (p.Gly1031=)
c.3057C= (p.Gly1019=)
19g.7125445G>TCA505400253INSRc.3096C>A (p.Gly1032=)
c.3060C>A (p.Gly1020=)
c.3171C>A (p.Gly1057=)
c.3135C>A (p.Gly1045=)
c.3093C>A (p.Gly1031=)
c.3057C>A (p.Gly1019=)
19g.7125446C>ACA403671318INSRc.3095G>T (p.Gly1032Val)
c.3059G>T (p.Gly1020Val)
c.3170G>T (p.Gly1057Val)
c.3134G>T (p.Gly1045Val)
c.3092G>T (p.Gly1031Val)
c.3056G>T (p.Gly1019Val)
19g.7125446C>GCA403671319INSRc.3095G>C (p.Gly1032Ala)
c.3059G>C (p.Gly1020Ala)
c.3170G>C (p.Gly1057Ala)
c.3134G>C (p.Gly1045Ala)
c.3092G>C (p.Gly1031Ala)
c.3056G>C (p.Gly1019Ala)
19g.7125446C>TCA403671320INSRc.3095G>A (p.Gly1032Asp)
c.3059G>A (p.Gly1020Asp)
c.3170G>A (p.Gly1057Asp)
c.3134G>A (p.Gly1045Asp)
c.3092G>A (p.Gly1031Asp)
c.3056G>A (p.Gly1019Asp)
19g.7125447C>ACA403671321INSRc.3094G>T (p.Gly1032Cys)
c.3058G>T (p.Gly1020Cys)
c.3169G>T (p.Gly1057Cys)
c.3133G>T (p.Gly1045Cys)
c.3091G>T (p.Gly1031Cys)
c.3055G>T (p.Gly1019Cys)
19g.7125447C>GCA403671322INSRc.3094G>C (p.Gly1032Arg)
c.3058G>C (p.Gly1020Arg)
c.3169G>C (p.Gly1057Arg)
c.3133G>C (p.Gly1045Arg)
c.3091G>C (p.Gly1031Arg)
c.3055G>C (p.Gly1019Arg)
19g.7125447C>TCA403671323INSRc.3094G>A (p.Gly1032Ser)
c.3058G>A (p.Gly1020Ser)
c.3169G>A (p.Gly1057Ser)
c.3133G>A (p.Gly1045Ser)
c.3091G>A (p.Gly1031Ser)
c.3055G>A (p.Gly1019Ser)
ClinVar
19g.7125448C>ACA403671325INSRc.3093G>T (p.Gln1031His)
c.3057G>T (p.Gln1019His)
c.3168G>T (p.Gln1056His)
c.3132G>T (p.Gln1044His)
c.3090G>T (p.Gln1030His)
c.3054G>T (p.Gln1018His)
19g.7125448C=CA2320767969INSRc.3093G= (p.Gln1031=)
c.3057G= (p.Gln1019=)
c.3168G= (p.Gln1056=)
c.3132G= (p.Gln1044=)
c.3090G= (p.Gln1030=)
c.3054G= (p.Gln1018=)
19g.7125448C>GCA403671324INSRc.3093G>C (p.Gln1031His)
c.3057G>C (p.Gln1019His)
c.3168G>C (p.Gln1056His)
c.3132G>C (p.Gln1044His)
c.3090G>C (p.Gln1030His)
c.3054G>C (p.Gln1018His)
19g.7125448C>TCA505400256INSRc.3093G>A (p.Gln1031=)
c.3057G>A (p.Gln1019=)
c.3168G>A (p.Gln1056=)
c.3132G>A (p.Gln1044=)
c.3090G>A (p.Gln1030=)
c.3054G>A (p.Gln1018=)
dbSNP
19g.7125449T>ACA403671326INSRc.3092A>T (p.Gln1031Leu)
c.3056A>T (p.Gln1019Leu)
c.3167A>T (p.Gln1056Leu)
c.3131A>T (p.Gln1044Leu)
c.3089A>T (p.Gln1030Leu)
c.3053A>T (p.Gln1018Leu)
19g.7125449T>CCA403671327INSRc.3092A>G (p.Gln1031Arg)
c.3056A>G (p.Gln1019Arg)
c.3167A>G (p.Gln1056Arg)
c.3131A>G (p.Gln1044Arg)
c.3089A>G (p.Gln1030Arg)
c.3053A>G (p.Gln1018Arg)
19g.7125449T>GCA403671328INSRc.3092A>C (p.Gln1031Pro)
c.3056A>C (p.Gln1019Pro)
c.3167A>C (p.Gln1056Pro)
c.3131A>C (p.Gln1044Pro)
c.3089A>C (p.Gln1030Pro)
c.3053A>C (p.Gln1018Pro)
19g.7125450G>ACA403671329INSRc.3091C>T (p.Gln1031Ter)
c.3055C>T (p.Gln1019Ter)
c.3166C>T (p.Gln1056Ter)
c.3130C>T (p.Gln1044Ter)
c.3088C>T (p.Gln1030Ter)
c.3052C>T (p.Gln1018Ter)
19g.7125450G>CCA403671330INSRc.3091C>G (p.Gln1031Glu)
c.3055C>G (p.Gln1019Glu)
c.3166C>G (p.Gln1056Glu)
c.3130C>G (p.Gln1044Glu)
c.3088C>G (p.Gln1030Glu)
c.3052C>G (p.Gln1018Glu)
19g.7125450G>TCA403671331INSRc.3091C>A (p.Gln1031Lys)
c.3055C>A (p.Gln1019Lys)
c.3166C>A (p.Gln1056Lys)
c.3130C>A (p.Gln1044Lys)
c.3088C>A (p.Gln1030Lys)
c.3052C>A (p.Gln1018Lys)
19g.7125451C>ACA505400258INSRc.3090G>T (p.Gly1030=)
c.3054G>T (p.Gly1018=)
c.3165G>T (p.Gly1055=)
c.3129G>T (p.Gly1043=)
c.3087G>T (p.Gly1029=)
c.3051G>T (p.Gly1017=)
gnomAD v4
19g.7125451C>GCA505400259INSRc.3090G>C (p.Gly1030=)
c.3054G>C (p.Gly1018=)
c.3165G>C (p.Gly1055=)
c.3129G>C (p.Gly1043=)
c.3087G>C (p.Gly1029=)
c.3051G>C (p.Gly1017=)
19g.7125451C>TCA505400257INSRc.3090G>A (p.Gly1030=)
c.3054G>A (p.Gly1018=)
c.3165G>A (p.Gly1055=)
c.3129G>A (p.Gly1043=)
c.3087G>A (p.Gly1029=)
c.3051G>A (p.Gly1017=)
gnomAD v4
19g.7125452C>ACA403671334INSRc.3089G>T (p.Gly1030Val)
c.3053G>T (p.Gly1018Val)
c.3164G>T (p.Gly1055Val)
c.3128G>T (p.Gly1043Val)
c.3086G>T (p.Gly1029Val)
c.3050G>T (p.Gly1017Val)
19g.7125452C>GCA403671332INSRc.3089G>C (p.Gly1030Ala)
c.3053G>C (p.Gly1018Ala)
c.3164G>C (p.Gly1055Ala)
c.3128G>C (p.Gly1043Ala)
c.3086G>C (p.Gly1029Ala)
c.3050G>C (p.Gly1017Ala)
19g.7125452C>TCA403671333INSRc.3089G>A (p.Gly1030Glu)
c.3053G>A (p.Gly1018Glu)
c.3164G>A (p.Gly1055Glu)
c.3128G>A (p.Gly1043Glu)
c.3086G>A (p.Gly1029Glu)
c.3050G>A (p.Gly1017Glu)
19g.7125453C>ACA403671335INSRc.3088G>T (p.Gly1030Trp)
c.3052G>T (p.Gly1018Trp)
c.3163G>T (p.Gly1055Trp)
c.3127G>T (p.Gly1043Trp)
c.3085G>T (p.Gly1029Trp)
c.3049G>T (p.Gly1017Trp)
19g.7125453C>GCA403671336INSRc.3088G>C (p.Gly1030Arg)
c.3052G>C (p.Gly1018Arg)
c.3163G>C (p.Gly1055Arg)
c.3127G>C (p.Gly1043Arg)
c.3085G>C (p.Gly1029Arg)
c.3049G>C (p.Gly1017Arg)
19g.7125453C>TCA403671337INSRc.3088G>A (p.Gly1030Arg)
c.3052G>A (p.Gly1018Arg)
c.3163G>A (p.Gly1055Arg)
c.3127G>A (p.Gly1043Arg)
c.3085G>A (p.Gly1029Arg)
c.3049G>A (p.Gly1017Arg)
19g.7125454C>ACA505400260INSRc.3087G>T (p.Leu1029=)
c.3051G>T (p.Leu1017=)
c.3162G>T (p.Leu1054=)
c.3126G>T (p.Leu1042=)
c.3084G>T (p.Leu1028=)
c.3048G>T (p.Leu1016=)
19g.7125454C>GCA505400261INSRc.3087G>C (p.Leu1029=)
c.3051G>C (p.Leu1017=)
c.3162G>C (p.Leu1054=)
c.3126G>C (p.Leu1042=)
c.3084G>C (p.Leu1028=)
c.3048G>C (p.Leu1016=)
19g.7125454C>TCA505400262INSRc.3087G>A (p.Leu1029=)
c.3051G>A (p.Leu1017=)
c.3162G>A (p.Leu1054=)
c.3126G>A (p.Leu1042=)
c.3084G>A (p.Leu1028=)
c.3048G>A (p.Leu1016=)
19g.7125455_7125475dupCA2587922098INSRc.3067_3087dup (p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu)
c.3031_3051dup (p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu)
c.3142_3162dup (p.Leu1054_Gly1055insIleThrLeuLeuArgGluLeu)
c.3106_3126dup (p.Leu1042_Gly1043insIleThrLeuLeuArgGluLeu)
c.3064_3084dup (p.Leu1028_Gly1029insIleThrLeuLeuArgGluLeu)
c.3028_3048dup (p.Leu1016_Gly1017insIleThrLeuLeuArgGluLeu)
gnomAD v4
19g.7125455A>CCA403671338INSRc.3086T>G (p.Leu1029Arg)
c.3050T>G (p.Leu1017Arg)
c.3161T>G (p.Leu1054Arg)
c.3125T>G (p.Leu1042Arg)
c.3083T>G (p.Leu1028Arg)
c.3047T>G (p.Leu1016Arg)
19g.7125455A>GCA403671339INSRc.3086T>C (p.Leu1029Pro)
c.3050T>C (p.Leu1017Pro)
c.3161T>C (p.Leu1054Pro)
c.3125T>C (p.Leu1042Pro)
c.3083T>C (p.Leu1028Pro)
c.3047T>C (p.Leu1016Pro)
19g.7125455A>TCA403671340INSRc.3086T>A (p.Leu1029Gln)
c.3050T>A (p.Leu1017Gln)
c.3161T>A (p.Leu1054Gln)
c.3125T>A (p.Leu1042Gln)
c.3083T>A (p.Leu1028Gln)
c.3047T>A (p.Leu1016Gln)
19g.7125456G>ACA505400263INSRc.3085C>T (p.Leu1029=)
c.3049C>T (p.Leu1017=)
c.3160C>T (p.Leu1054=)
c.3124C>T (p.Leu1042=)
c.3082C>T (p.Leu1028=)
c.3046C>T (p.Leu1016=)
gnomAD v4
19g.7125456G>CCA403671341INSRc.3085C>G (p.Leu1029Val)
c.3049C>G (p.Leu1017Val)
c.3160C>G (p.Leu1054Val)
c.3124C>G (p.Leu1042Val)
c.3082C>G (p.Leu1028Val)
c.3046C>G (p.Leu1016Val)
19g.7125456G>TCA403671342INSRc.3085C>A (p.Leu1029Met)
c.3049C>A (p.Leu1017Met)
c.3160C>A (p.Leu1054Met)
c.3124C>A (p.Leu1042Met)
c.3082C>A (p.Leu1028Met)
c.3046C>A (p.Leu1016Met)
19g.7125457C>ACA403671343INSRc.3084G>T (p.Glu1028Asp)
c.3048G>T (p.Glu1016Asp)
c.3159G>T (p.Glu1053Asp)
c.3123G>T (p.Glu1041Asp)
c.3081G>T (p.Glu1027Asp)
c.3045G>T (p.Glu1015Asp)
19g.7125457C>GCA403671344INSRc.3084G>C (p.Glu1028Asp)
c.3048G>C (p.Glu1016Asp)
c.3159G>C (p.Glu1053Asp)
c.3123G>C (p.Glu1041Asp)
c.3081G>C (p.Glu1027Asp)
c.3045G>C (p.Glu1015Asp)
19g.7125457C>TCA505400264INSRc.3084G>A (p.Glu1028=)
c.3048G>A (p.Glu1016=)
c.3159G>A (p.Glu1053=)
c.3123G>A (p.Glu1041=)
c.3081G>A (p.Glu1027=)
c.3045G>A (p.Glu1015=)
19g.7125458T>ACA403671345INSRc.3083A>T (p.Glu1028Val)
c.3047A>T (p.Glu1016Val)
c.3158A>T (p.Glu1053Val)
c.3122A>T (p.Glu1041Val)
c.3080A>T (p.Glu1027Val)
c.3044A>T (p.Glu1015Val)
19g.7125458T>CCA403671346INSRc.3083A>G (p.Glu1028Gly)
c.3047A>G (p.Glu1016Gly)
c.3158A>G (p.Glu1053Gly)
c.3122A>G (p.Glu1041Gly)
c.3080A>G (p.Glu1027Gly)
c.3044A>G (p.Glu1015Gly)
19g.7125458T>GCA9135362INSRc.3083A>C (p.Glu1028Ala)
c.3047A>C (p.Glu1016Ala)
c.3158A>C (p.Glu1053Ala)
c.3122A>C (p.Glu1041Ala)
c.3080A>C (p.Glu1027Ala)
c.3044A>C (p.Glu1015Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125458T=CA2320767970INSRc.3083A= (p.Glu1028=)
c.3047A= (p.Glu1016=)
c.3158A= (p.Glu1053=)
c.3122A= (p.Glu1041=)
c.3080A= (p.Glu1027=)
c.3044A= (p.Glu1015=)
19g.7125459C>ACA403671347INSRc.3082G>T (p.Glu1028Ter)
c.3046G>T (p.Glu1016Ter)
c.3157G>T (p.Glu1053Ter)
c.3121G>T (p.Glu1041Ter)
c.3079G>T (p.Glu1027Ter)
c.3043G>T (p.Glu1015Ter)
19g.7125459C>GCA403671349INSRc.3082G>C (p.Glu1028Gln)
c.3046G>C (p.Glu1016Gln)
c.3157G>C (p.Glu1053Gln)
c.3121G>C (p.Glu1041Gln)
c.3079G>C (p.Glu1027Gln)
c.3043G>C (p.Glu1015Gln)
19g.7125459C>TCA403671348INSRc.3082G>A (p.Glu1028Lys)
c.3046G>A (p.Glu1016Lys)
c.3157G>A (p.Glu1053Lys)
c.3121G>A (p.Glu1041Lys)
c.3079G>A (p.Glu1027Lys)
c.3043G>A (p.Glu1015Lys)
COSMIC COSMIC
19g.7125460T>ACA505400265INSRc.3081A>T (p.Arg1027=)
c.3045A>T (p.Arg1015=)
c.3156A>T (p.Arg1052=)
c.3120A>T (p.Arg1040=)
c.3078A>T (p.Arg1026=)
c.3042A>T (p.Arg1014=)
19g.7125460T>CCA505400266INSRc.3081A>G (p.Arg1027=)
c.3045A>G (p.Arg1015=)
c.3156A>G (p.Arg1052=)
c.3120A>G (p.Arg1040=)
c.3078A>G (p.Arg1026=)
c.3042A>G (p.Arg1014=)
19g.7125460T>GCA505400267INSRc.3081A>C (p.Arg1027=)
c.3045A>C (p.Arg1015=)
c.3156A>C (p.Arg1052=)
c.3120A>C (p.Arg1040=)
c.3078A>C (p.Arg1026=)
c.3042A>C (p.Arg1014=)
19g.7125461C>ACA403671350INSRc.3080G>T (p.Arg1027Leu)
c.3044G>T (p.Arg1015Leu)
c.3155G>T (p.Arg1052Leu)
c.3119G>T (p.Arg1040Leu)
c.3077G>T (p.Arg1026Leu)
c.3041G>T (p.Arg1014Leu)
19g.7125461C=CA2320767971INSRc.3080G= (p.Arg1027=)
c.3044G= (p.Arg1015=)
c.3155G= (p.Arg1052=)
c.3119G= (p.Arg1040=)
c.3077G= (p.Arg1026=)
c.3041G= (p.Arg1014=)
19g.7125461C>GCA403671351INSRc.3080G>C (p.Arg1027Pro)
c.3044G>C (p.Arg1015Pro)
c.3155G>C (p.Arg1052Pro)
c.3119G>C (p.Arg1040Pro)
c.3077G>C (p.Arg1026Pro)
c.3041G>C (p.Arg1014Pro)
19g.7125461C>TCA9135363INSRc.3080G>A (p.Arg1027Gln)
c.3044G>A (p.Arg1015Gln)
c.3155G>A (p.Arg1052Gln)
c.3119G>A (p.Arg1040Gln)
c.3077G>A (p.Arg1026Gln)
c.3041G>A (p.Arg1014Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125462G>ACA124233INSRc.3079C>T (p.Arg1027Ter)
c.3043C>T (p.Arg1015Ter)
c.3154C>T (p.Arg1052Ter)
c.3118C>T (p.Arg1040Ter)
c.3076C>T (p.Arg1026Ter)
c.3040C>T (p.Arg1014Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7125462G>CCA403671352INSRc.3079C>G (p.Arg1027Gly)
c.3043C>G (p.Arg1015Gly)
c.3154C>G (p.Arg1052Gly)
c.3118C>G (p.Arg1040Gly)
c.3076C>G (p.Arg1026Gly)
c.3040C>G (p.Arg1014Gly)
19g.7125462G=CA2320767972INSRc.3079C= (p.Arg1027=)
c.3043C= (p.Arg1015=)
c.3154C= (p.Arg1052=)
c.3118C= (p.Arg1040=)
c.3076C= (p.Arg1026=)
c.3040C= (p.Arg1014=)
19g.7125462G>TCA505400268INSRc.3079C>A (p.Arg1027=)
c.3043C>A (p.Arg1015=)
c.3154C>A (p.Arg1052=)
c.3118C>A (p.Arg1040=)
c.3076C>A (p.Arg1026=)
c.3040C>A (p.Arg1014=)
19g.7125463_7125465delCA2695228020INSRc.3077_3079del (p.Leu1026del)
c.3041_3043del (p.Leu1014del)
c.3152_3154del (p.Leu1051del)
c.3116_3118del (p.Leu1039del)
c.3074_3076del (p.Leu1025del)
c.3038_3040del (p.Leu1013del)
19g.7125463A=CA2320767973INSRc.3078T= (p.Leu1026=)
c.3042T= (p.Leu1014=)
c.3153T= (p.Leu1051=)
c.3117T= (p.Leu1039=)
c.3075T= (p.Leu1025=)
c.3039T= (p.Leu1013=)
19g.7125463A>CCA505400269INSRc.3078T>G (p.Leu1026=)
c.3042T>G (p.Leu1014=)
c.3153T>G (p.Leu1051=)
c.3117T>G (p.Leu1039=)
c.3075T>G (p.Leu1025=)
c.3039T>G (p.Leu1013=)
dbSNP gnomAD v3 gnomAD v4
19g.7125463A>GCA505400270INSRc.3078T>C (p.Leu1026=)
c.3042T>C (p.Leu1014=)
c.3153T>C (p.Leu1051=)
c.3117T>C (p.Leu1039=)
c.3075T>C (p.Leu1025=)
c.3039T>C (p.Leu1013=)
19g.7125463A>TCA505400271INSRc.3078T>A (p.Leu1026=)
c.3042T>A (p.Leu1014=)
c.3153T>A (p.Leu1051=)
c.3117T>A (p.Leu1039=)
c.3075T>A (p.Leu1025=)
c.3039T>A (p.Leu1013=)
19g.7125464A>CCA403671353INSRc.3077T>G (p.Leu1026Arg)
c.3041T>G (p.Leu1014Arg)
c.3152T>G (p.Leu1051Arg)
c.3116T>G (p.Leu1039Arg)
c.3074T>G (p.Leu1025Arg)
c.3038T>G (p.Leu1013Arg)
19g.7125464A>GCA403671354INSRc.3077T>C (p.Leu1026Pro)
c.3041T>C (p.Leu1014Pro)
c.3152T>C (p.Leu1051Pro)
c.3116T>C (p.Leu1039Pro)
c.3074T>C (p.Leu1025Pro)
c.3038T>C (p.Leu1013Pro)
19g.7125464A>TCA403671355INSRc.3077T>A (p.Leu1026His)
c.3041T>A (p.Leu1014His)
c.3152T>A (p.Leu1051His)
c.3116T>A (p.Leu1039His)
c.3074T>A (p.Leu1025His)
c.3038T>A (p.Leu1013His)
19g.7125465G>ACA403671356INSRc.3076C>T (p.Leu1026Phe)
c.3040C>T (p.Leu1014Phe)
c.3151C>T (p.Leu1051Phe)
c.3115C>T (p.Leu1039Phe)
c.3073C>T (p.Leu1025Phe)
c.3037C>T (p.Leu1013Phe)
dbSNP gnomAD v3 gnomAD v4
19g.7125465G>CCA403671357INSRc.3076C>G (p.Leu1026Val)
c.3040C>G (p.Leu1014Val)
c.3151C>G (p.Leu1051Val)
c.3115C>G (p.Leu1039Val)
c.3073C>G (p.Leu1025Val)
c.3037C>G (p.Leu1013Val)
19g.7125465G=CA2320767974INSRc.3076C= (p.Leu1026=)
c.3040C= (p.Leu1014=)
c.3151C= (p.Leu1051=)
c.3115C= (p.Leu1039=)
c.3073C= (p.Leu1025=)
c.3037C= (p.Leu1013=)
19g.7125465G>TCA403671358INSRc.3076C>A (p.Leu1026Ile)
c.3040C>A (p.Leu1014Ile)
c.3151C>A (p.Leu1051Ile)
c.3115C>A (p.Leu1039Ile)
c.3073C>A (p.Leu1025Ile)
c.3037C>A (p.Leu1013Ile)
19g.7125466G>ACA304873439INSRc.3075C>T (p.Leu1025=)
c.3039C>T (p.Leu1013=)
c.3150C>T (p.Leu1050=)
c.3114C>T (p.Leu1038=)
c.3072C>T (p.Leu1024=)
c.3036C>T (p.Leu1012=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125466G>CCA505400272INSRc.3075C>G (p.Leu1025=)
c.3039C>G (p.Leu1013=)
c.3150C>G (p.Leu1050=)
c.3114C>G (p.Leu1038=)
c.3072C>G (p.Leu1024=)
c.3036C>G (p.Leu1012=)
19g.7125466G=CA2320767975INSRc.3075C= (p.Leu1025=)
c.3039C= (p.Leu1013=)
c.3150C= (p.Leu1050=)
c.3114C= (p.Leu1038=)
c.3072C= (p.Leu1024=)
c.3036C= (p.Leu1012=)
19g.7125466G>TCA505400273INSRc.3075C>A (p.Leu1025=)
c.3039C>A (p.Leu1013=)
c.3150C>A (p.Leu1050=)
c.3114C>A (p.Leu1038=)
c.3072C>A (p.Leu1024=)
c.3036C>A (p.Leu1012=)
19g.7125467A=CA2320767976INSRc.3074T= (p.Leu1025=)
c.3038T= (p.Leu1013=)
c.3149T= (p.Leu1050=)
c.3113T= (p.Leu1038=)
c.3071T= (p.Leu1024=)
c.3035T= (p.Leu1012=)
19g.7125467A>CCA403671361INSRc.3074T>G (p.Leu1025Arg)
c.3038T>G (p.Leu1013Arg)
c.3149T>G (p.Leu1050Arg)
c.3113T>G (p.Leu1038Arg)
c.3071T>G (p.Leu1024Arg)
c.3035T>G (p.Leu1012Arg)
19g.7125467A>GCA403671360INSRc.3074T>C (p.Leu1025Pro)
c.3038T>C (p.Leu1013Pro)
c.3149T>C (p.Leu1050Pro)
c.3113T>C (p.Leu1038Pro)
c.3071T>C (p.Leu1024Pro)
c.3035T>C (p.Leu1012Pro)
19g.7125467A>TCA403671359INSRc.3074T>A (p.Leu1025His)
c.3038T>A (p.Leu1013His)
c.3149T>A (p.Leu1050His)
c.3113T>A (p.Leu1038His)
c.3071T>A (p.Leu1024His)
c.3035T>A (p.Leu1012His)
dbSNP
19g.7125468G>ACA403671362INSRc.3073C>T (p.Leu1025Phe)
c.3037C>T (p.Leu1013Phe)
c.3148C>T (p.Leu1050Phe)
c.3112C>T (p.Leu1038Phe)
c.3070C>T (p.Leu1024Phe)
c.3034C>T (p.Leu1012Phe)
19g.7125468G>CCA403671363INSRc.3073C>G (p.Leu1025Val)
c.3037C>G (p.Leu1013Val)
c.3148C>G (p.Leu1050Val)
c.3112C>G (p.Leu1038Val)
c.3070C>G (p.Leu1024Val)
c.3034C>G (p.Leu1012Val)
gnomAD v4
19g.7125468G>TCA403671364INSRc.3073C>A (p.Leu1025Ile)
c.3037C>A (p.Leu1013Ile)
c.3148C>A (p.Leu1050Ile)
c.3112C>A (p.Leu1038Ile)
c.3070C>A (p.Leu1024Ile)
c.3034C>A (p.Leu1012Ile)
19g.7125469G>ACA505400274INSRc.3072C>T (p.Thr1024=)
c.3036C>T (p.Thr1012=)
c.3147C>T (p.Thr1049=)
c.3111C>T (p.Thr1037=)
c.3069C>T (p.Thr1023=)
c.3033C>T (p.Thr1011=)
COSMIC COSMIC
19g.7125469G>CCA505400275INSRc.3072C>G (p.Thr1024=)
c.3036C>G (p.Thr1012=)
c.3147C>G (p.Thr1049=)
c.3111C>G (p.Thr1037=)
c.3069C>G (p.Thr1023=)
c.3033C>G (p.Thr1011=)
19g.7125469G=CA2320767977INSRc.3072C= (p.Thr1024=)
c.3036C= (p.Thr1012=)
c.3147C= (p.Thr1049=)
c.3111C= (p.Thr1037=)
c.3069C= (p.Thr1023=)
c.3033C= (p.Thr1011=)
19g.7125469G>TCA9135365INSRc.3072C>A (p.Thr1024=)
c.3036C>A (p.Thr1012=)
c.3147C>A (p.Thr1049=)
c.3111C>A (p.Thr1037=)
c.3069C>A (p.Thr1023=)
c.3033C>A (p.Thr1011=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125469_7125470insTCACA9135364INSRc.3071_3072insTGA (p.Thr1024_Leu1025insAsp)
c.3035_3036insTGA (p.Thr1012_Leu1013insAsp)
c.3146_3147insTGA (p.Thr1049_Leu1050insAsp)
c.3110_3111insTGA (p.Thr1037_Leu1038insAsp)
c.3068_3069insTGA (p.Thr1023_Leu1024insAsp)
c.3032_3033insTGA (p.Thr1011_Leu1012insAsp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125470G>ACA9135366INSRc.3071C>T (p.Thr1024Ile)
c.3035C>T (p.Thr1012Ile)
c.3146C>T (p.Thr1049Ile)
c.3110C>T (p.Thr1037Ile)
c.3068C>T (p.Thr1023Ile)
c.3032C>T (p.Thr1011Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125470G>CCA9135367INSRc.3071C>G (p.Thr1024Ser)
c.3035C>G (p.Thr1012Ser)
c.3146C>G (p.Thr1049Ser)
c.3110C>G (p.Thr1037Ser)
c.3068C>G (p.Thr1023Ser)
c.3032C>G (p.Thr1011Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125470G=CA2320767978INSRc.3071C= (p.Thr1024=)
c.3035C= (p.Thr1012=)
c.3146C= (p.Thr1049=)
c.3110C= (p.Thr1037=)
c.3068C= (p.Thr1023=)
c.3032C= (p.Thr1011=)
19g.7125470G>TCA403671365INSRc.3071C>A (p.Thr1024Asn)
c.3035C>A (p.Thr1012Asn)
c.3146C>A (p.Thr1049Asn)
c.3110C>A (p.Thr1037Asn)
c.3068C>A (p.Thr1023Asn)
c.3032C>A (p.Thr1011Asn)
19g.7125471T>ACA403671366INSRc.3070A>T (p.Thr1024Ser)
c.3034A>T (p.Thr1012Ser)
c.3145A>T (p.Thr1049Ser)
c.3109A>T (p.Thr1037Ser)
c.3067A>T (p.Thr1023Ser)
c.3031A>T (p.Thr1011Ser)
19g.7125471T>CCA403671367INSRc.3070A>G (p.Thr1024Ala)
c.3034A>G (p.Thr1012Ala)
c.3145A>G (p.Thr1049Ala)
c.3109A>G (p.Thr1037Ala)
c.3067A>G (p.Thr1023Ala)
c.3031A>G (p.Thr1011Ala)
gnomAD v4
19g.7125471T>GCA403671368INSRc.3070A>C (p.Thr1024Pro)
c.3034A>C (p.Thr1012Pro)
c.3145A>C (p.Thr1049Pro)
c.3109A>C (p.Thr1037Pro)
c.3067A>C (p.Thr1023Pro)
c.3031A>C (p.Thr1011Pro)
19g.7125472G>ACA505400276INSRc.3069C>T (p.Ile1023=)
c.3033C>T (p.Ile1011=)
c.3144C>T (p.Ile1048=)
c.3108C>T (p.Ile1036=)
c.3066C>T (p.Ile1022=)
c.3030C>T (p.Ile1010=)
19g.7125472G>CCA403671369INSRc.3069C>G (p.Ile1023Met)
c.3033C>G (p.Ile1011Met)
c.3144C>G (p.Ile1048Met)
c.3108C>G (p.Ile1036Met)
c.3066C>G (p.Ile1022Met)
c.3030C>G (p.Ile1010Met)
19g.7125472G>TCA505400277INSRc.3069C>A (p.Ile1023=)
c.3033C>A (p.Ile1011=)
c.3144C>A (p.Ile1048=)
c.3108C>A (p.Ile1036=)
c.3066C>A (p.Ile1022=)
c.3030C>A (p.Ile1010=)
19g.7125473A>CCA403671370INSRc.3068T>G (p.Ile1023Ser)
c.3032T>G (p.Ile1011Ser)
c.3143T>G (p.Ile1048Ser)
c.3107T>G (p.Ile1036Ser)
c.3065T>G (p.Ile1022Ser)
c.3029T>G (p.Ile1010Ser)
19g.7125473A>GCA403671372INSRc.3068T>C (p.Ile1023Thr)
c.3032T>C (p.Ile1011Thr)
c.3143T>C (p.Ile1048Thr)
c.3107T>C (p.Ile1036Thr)
c.3065T>C (p.Ile1022Thr)
c.3029T>C (p.Ile1010Thr)
19g.7125473A>TCA403671371INSRc.3068T>A (p.Ile1023Asn)
c.3032T>A (p.Ile1011Asn)
c.3143T>A (p.Ile1048Asn)
c.3107T>A (p.Ile1036Asn)
c.3065T>A (p.Ile1022Asn)
c.3029T>A (p.Ile1010Asn)
19g.7125474T>ACA403671373INSRc.3067A>T (p.Ile1023Phe)
c.3031A>T (p.Ile1011Phe)
c.3142A>T (p.Ile1048Phe)
c.3106A>T (p.Ile1036Phe)
c.3064A>T (p.Ile1022Phe)
c.3028A>T (p.Ile1010Phe)
19g.7125474T>CCA403671375INSRc.3067A>G (p.Ile1023Val)
c.3031A>G (p.Ile1011Val)
c.3142A>G (p.Ile1048Val)
c.3106A>G (p.Ile1036Val)
c.3064A>G (p.Ile1022Val)
c.3028A>G (p.Ile1010Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7125474T>GCA403671374INSRc.3067A>C (p.Ile1023Leu)
c.3031A>C (p.Ile1011Leu)
c.3142A>C (p.Ile1048Leu)
c.3106A>C (p.Ile1036Leu)
c.3064A>C (p.Ile1022Leu)
c.3028A>C (p.Ile1010Leu)
19g.7125474T=CA2320767979INSRc.3067A= (p.Ile1023=)
c.3031A= (p.Ile1011=)
c.3142A= (p.Ile1048=)
c.3106A= (p.Ile1036=)
c.3064A= (p.Ile1022=)
c.3028A= (p.Ile1010=)
19g.7125475C>ACA403671376INSRc.3066G>T (p.Lys1022Asn)
c.3030G>T (p.Lys1010Asn)
c.3141G>T (p.Lys1047Asn)
c.3105G>T (p.Lys1035Asn)
c.3063G>T (p.Lys1021Asn)
c.3027G>T (p.Lys1009Asn)
19g.7125475C>GCA403671377INSRc.3066G>C (p.Lys1022Asn)
c.3030G>C (p.Lys1010Asn)
c.3141G>C (p.Lys1047Asn)
c.3105G>C (p.Lys1035Asn)
c.3063G>C (p.Lys1021Asn)
c.3027G>C (p.Lys1009Asn)
19g.7125475C>TCA505400278INSRc.3066G>A (p.Lys1022=)
c.3030G>A (p.Lys1010=)
c.3141G>A (p.Lys1047=)
c.3105G>A (p.Lys1035=)
c.3063G>A (p.Lys1021=)
c.3027G>A (p.Lys1009=)
19g.7125476T>ACA403671378INSRc.3065A>T (p.Lys1022Met)
c.3029A>T (p.Lys1010Met)
c.3140A>T (p.Lys1047Met)
c.3104A>T (p.Lys1035Met)
c.3062A>T (p.Lys1021Met)
c.3026A>T (p.Lys1009Met)
19g.7125476T>CCA403671379INSRc.3065A>G (p.Lys1022Arg)
c.3029A>G (p.Lys1010Arg)
c.3140A>G (p.Lys1047Arg)
c.3104A>G (p.Lys1035Arg)
c.3062A>G (p.Lys1021Arg)
c.3026A>G (p.Lys1009Arg)
19g.7125476T>GCA403671380INSRc.3065A>C (p.Lys1022Thr)
c.3029A>C (p.Lys1010Thr)
c.3140A>C (p.Lys1047Thr)
c.3104A>C (p.Lys1035Thr)
c.3062A>C (p.Lys1021Thr)
c.3026A>C (p.Lys1009Thr)
19g.7125477T>ACA403671381INSRc.3064A>T (p.Lys1022Ter)
c.3028A>T (p.Lys1010Ter)
c.3139A>T (p.Lys1047Ter)
c.3103A>T (p.Lys1035Ter)
c.3061A>T (p.Lys1021Ter)
c.3025A>T (p.Lys1009Ter)
19g.7125477T>CCA403671382INSRc.3064A>G (p.Lys1022Glu)
c.3028A>G (p.Lys1010Glu)
c.3139A>G (p.Lys1047Glu)
c.3103A>G (p.Lys1035Glu)
c.3061A>G (p.Lys1021Glu)
c.3025A>G (p.Lys1009Glu)
19g.7125477T>GCA403671383INSRc.3064A>C (p.Lys1022Gln)
c.3028A>C (p.Lys1010Gln)
c.3139A>C (p.Lys1047Gln)
c.3103A>C (p.Lys1035Gln)
c.3061A>C (p.Lys1021Gln)
c.3025A>C (p.Lys1009Gln)
19g.7125478C>ACA403671385INSRc.3063G>T (p.Glu1021Asp)
c.3027G>T (p.Glu1009Asp)
c.3138G>T (p.Glu1046Asp)
c.3102G>T (p.Glu1034Asp)
c.3060G>T (p.Glu1020Asp)
c.3024G>T (p.Glu1008Asp)
19g.7125478C>GCA403671384INSRc.3063G>C (p.Glu1021Asp)
c.3027G>C (p.Glu1009Asp)
c.3138G>C (p.Glu1046Asp)
c.3102G>C (p.Glu1034Asp)
c.3060G>C (p.Glu1020Asp)
c.3024G>C (p.Glu1008Asp)
19g.7125478C>TCA505400279INSRc.3063G>A (p.Glu1021=)
c.3027G>A (p.Glu1009=)
c.3138G>A (p.Glu1046=)
c.3102G>A (p.Glu1034=)
c.3060G>A (p.Glu1020=)
c.3024G>A (p.Glu1008=)
19g.7125479T>ACA403671386INSRc.3062A>T (p.Glu1021Val)
c.3026A>T (p.Glu1009Val)
c.3137A>T (p.Glu1046Val)
c.3101A>T (p.Glu1034Val)
c.3059A>T (p.Glu1020Val)
c.3023A>T (p.Glu1008Val)
19g.7125479T>CCA403671387INSRc.3062A>G (p.Glu1021Gly)
c.3026A>G (p.Glu1009Gly)
c.3137A>G (p.Glu1046Gly)
c.3101A>G (p.Glu1034Gly)
c.3059A>G (p.Glu1020Gly)
c.3023A>G (p.Glu1008Gly)
19g.7125479T>GCA403671388INSRc.3062A>C (p.Glu1021Ala)
c.3026A>C (p.Glu1009Ala)
c.3137A>C (p.Glu1046Ala)
c.3101A>C (p.Glu1034Ala)
c.3059A>C (p.Glu1020Ala)
c.3023A>C (p.Glu1008Ala)
19g.7125480C>ACA403671389INSRc.3061G>T (p.Glu1021Ter)
c.3025G>T (p.Glu1009Ter)
c.3136G>T (p.Glu1046Ter)
c.3100G>T (p.Glu1034Ter)
c.3058G>T (p.Glu1020Ter)
c.3022G>T (p.Glu1008Ter)
19g.7125480C=CA2320767980INSRc.3061G= (p.Glu1021=)
c.3025G= (p.Glu1009=)
c.3136G= (p.Glu1046=)
c.3100G= (p.Glu1034=)
c.3058G= (p.Glu1020=)
c.3022G= (p.Glu1008=)
19g.7125480C>GCA9135368INSRc.3061G>C (p.Glu1021Gln)
c.3025G>C (p.Glu1009Gln)
c.3136G>C (p.Glu1046Gln)
c.3100G>C (p.Glu1034Gln)
c.3058G>C (p.Glu1020Gln)
c.3022G>C (p.Glu1008Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125480C>TCA403671390INSRc.3061G>A (p.Glu1021Lys)
c.3025G>A (p.Glu1009Lys)
c.3136G>A (p.Glu1046Lys)
c.3100G>A (p.Glu1034Lys)
c.3058G>A (p.Glu1020Lys)
c.3022G>A (p.Glu1008Lys)
19g.7125481T>ACA505400280INSRc.3060A>T (p.Arg1020=)
c.3024A>T (p.Arg1008=)
c.3135A>T (p.Arg1045=)
c.3099A>T (p.Arg1033=)
c.3057A>T (p.Arg1019=)
c.3021A>T (p.Arg1007=)
19g.7125481T>CCA505400281INSRc.3060A>G (p.Arg1020=)
c.3024A>G (p.Arg1008=)
c.3135A>G (p.Arg1045=)
c.3099A>G (p.Arg1033=)
c.3057A>G (p.Arg1019=)
c.3021A>G (p.Arg1007=)
dbSNP gnomAD v4
19g.7125481T>GCA505400282INSRc.3060A>C (p.Arg1020=)
c.3024A>C (p.Arg1008=)
c.3135A>C (p.Arg1045=)
c.3099A>C (p.Arg1033=)
c.3057A>C (p.Arg1019=)
c.3021A>C (p.Arg1007=)
19g.7125481T=CA2320767981INSRc.3060A= (p.Arg1020=)
c.3024A= (p.Arg1008=)
c.3135A= (p.Arg1045=)
c.3099A= (p.Arg1033=)
c.3057A= (p.Arg1019=)
c.3021A= (p.Arg1007=)
19g.7125481dupCA631723596INSRc.3060dup (p.Glu1021ArgfsTer19)
c.3024dup (p.Glu1009ArgfsTer19)
c.3135dup (p.Glu1046ArgfsTer19)
c.3099dup (p.Glu1034ArgfsTer19)
c.3057dup (p.Glu1020ArgfsTer19)
c.3021dup (p.Glu1008ArgfsTer19)
dbSNP gnomAD v2 gnomAD v4
19g.7125482C>ACA403671392INSRc.3059G>T (p.Arg1020Leu)
c.3023G>T (p.Arg1008Leu)
c.3134G>T (p.Arg1045Leu)
c.3098G>T (p.Arg1033Leu)
c.3056G>T (p.Arg1019Leu)
c.3020G>T (p.Arg1007Leu)
19g.7125482C=CA2320767982INSRc.3059G= (p.Arg1020=)
c.3023G= (p.Arg1008=)
c.3134G= (p.Arg1045=)
c.3098G= (p.Arg1033=)
c.3056G= (p.Arg1019=)
c.3020G= (p.Arg1007=)
19g.7125482C>GCA403671391INSRc.3059G>C (p.Arg1020Pro)
c.3023G>C (p.Arg1008Pro)
c.3134G>C (p.Arg1045Pro)
c.3098G>C (p.Arg1033Pro)
c.3056G>C (p.Arg1019Pro)
c.3020G>C (p.Arg1007Pro)
19g.7125482C>TCA124245INSRc.3059G>A (p.Arg1020Gln)
c.3023G>A (p.Arg1008Gln)
c.3134G>A (p.Arg1045Gln)
c.3098G>A (p.Arg1033Gln)
c.3056G>A (p.Arg1019Gln)
c.3020G>A (p.Arg1007Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125483G>ACA403671393INSRc.3058C>T (p.Arg1020Ter)
c.3022C>T (p.Arg1008Ter)
c.3133C>T (p.Arg1045Ter)
c.3097C>T (p.Arg1033Ter)
c.3055C>T (p.Arg1019Ter)
c.3019C>T (p.Arg1007Ter)
dbSNP gnomAD v2 gnomAD v4
19g.7125483G>CCA403671394INSRc.3058C>G (p.Arg1020Gly)
c.3022C>G (p.Arg1008Gly)
c.3133C>G (p.Arg1045Gly)
c.3097C>G (p.Arg1033Gly)
c.3055C>G (p.Arg1019Gly)
c.3019C>G (p.Arg1007Gly)
19g.7125483G=CA2320767983INSRc.3058C= (p.Arg1020=)
c.3022C= (p.Arg1008=)
c.3133C= (p.Arg1045=)
c.3097C= (p.Arg1033=)
c.3055C= (p.Arg1019=)
c.3019C= (p.Arg1007=)
19g.7125483G>TCA505400283INSRc.3058C>A (p.Arg1020=)
c.3022C>A (p.Arg1008=)
c.3133C>A (p.Arg1045=)
c.3097C>A (p.Arg1033=)
c.3055C>A (p.Arg1019=)
c.3019C>A (p.Arg1007=)
19g.7125484A>CCA505400284INSRc.3057T>G (p.Ser1019=)
c.3021T>G (p.Ser1007=)
c.3132T>G (p.Ser1044=)
c.3096T>G (p.Ser1032=)
c.3054T>G (p.Ser1018=)
c.3018T>G (p.Ser1006=)
19g.7125484A>GCA505400285INSRc.3057T>C (p.Ser1019=)
c.3021T>C (p.Ser1007=)
c.3132T>C (p.Ser1044=)
c.3096T>C (p.Ser1032=)
c.3054T>C (p.Ser1018=)
c.3018T>C (p.Ser1006=)
19g.7125484A>TCA505400286INSRc.3057T>A (p.Ser1019=)
c.3021T>A (p.Ser1007=)
c.3132T>A (p.Ser1044=)
c.3096T>A (p.Ser1032=)
c.3054T>A (p.Ser1018=)
c.3018T>A (p.Ser1006=)
19g.7125485G>ACA403671395INSRc.3056C>T (p.Ser1019Phe)
c.3020C>T (p.Ser1007Phe)
c.3131C>T (p.Ser1044Phe)
c.3095C>T (p.Ser1032Phe)
c.3053C>T (p.Ser1018Phe)
c.3017C>T (p.Ser1006Phe)
19g.7125485G>CCA403671396INSRc.3056C>G (p.Ser1019Cys)
c.3020C>G (p.Ser1007Cys)
c.3131C>G (p.Ser1044Cys)
c.3095C>G (p.Ser1032Cys)
c.3053C>G (p.Ser1018Cys)
c.3017C>G (p.Ser1006Cys)
19g.7125485G>TCA403671397INSRc.3056C>A (p.Ser1019Tyr)
c.3020C>A (p.Ser1007Tyr)
c.3131C>A (p.Ser1044Tyr)
c.3095C>A (p.Ser1032Tyr)
c.3053C>A (p.Ser1018Tyr)
c.3017C>A (p.Ser1006Tyr)
19g.7125486A=CA2320767984INSRc.3055T= (p.Ser1019=)
c.3019T= (p.Ser1007=)
c.3130T= (p.Ser1044=)
c.3094T= (p.Ser1032=)
c.3052T= (p.Ser1018=)
c.3016T= (p.Ser1006=)
19g.7125486A>CCA403671398INSRc.3055T>G (p.Ser1019Ala)
c.3019T>G (p.Ser1007Ala)
c.3130T>G (p.Ser1044Ala)
c.3094T>G (p.Ser1032Ala)
c.3052T>G (p.Ser1018Ala)
c.3016T>G (p.Ser1006Ala)
19g.7125486A>GCA304873491INSRc.3055T>C (p.Ser1019Pro)
c.3019T>C (p.Ser1007Pro)
c.3130T>C (p.Ser1044Pro)
c.3094T>C (p.Ser1032Pro)
c.3052T>C (p.Ser1018Pro)
c.3016T>C (p.Ser1006Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125486A>TCA304873495INSRc.3055T>A (p.Ser1019Thr)
c.3019T>A (p.Ser1007Thr)
c.3130T>A (p.Ser1044Thr)
c.3094T>A (p.Ser1032Thr)
c.3052T>A (p.Ser1018Thr)
c.3016T>A (p.Ser1006Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125487C>ACA505400287INSRc.3054G>T (p.Val1018=)
c.3018G>T (p.Val1006=)
c.3129G>T (p.Val1043=)
c.3093G>T (p.Val1031=)
c.3051G>T (p.Val1017=)
c.3015G>T (p.Val1005=)
19g.7125487C=CA2320767985INSRc.3054G= (p.Val1018=)
c.3018G= (p.Val1006=)
c.3129G= (p.Val1043=)
c.3093G= (p.Val1031=)
c.3051G= (p.Val1017=)
c.3015G= (p.Val1005=)
19g.7125487C>GCA505400288INSRc.3054G>C (p.Val1018=)
c.3018G>C (p.Val1006=)
c.3129G>C (p.Val1043=)
c.3093G>C (p.Val1031=)
c.3051G>C (p.Val1017=)
c.3015G>C (p.Val1005=)
19g.7125487C>TCA10643423INSRc.3054G>A (p.Val1018=)
c.3018G>A (p.Val1006=)
c.3129G>A (p.Val1043=)
c.3093G>A (p.Val1031=)
c.3051G>A (p.Val1017=)
c.3015G>A (p.Val1005=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7125488A>CCA403671399INSRc.3053T>G (p.Val1018Gly)
c.3017T>G (p.Val1006Gly)
c.3128T>G (p.Val1043Gly)
c.3092T>G (p.Val1031Gly)
c.3050T>G (p.Val1017Gly)
c.3014T>G (p.Val1005Gly)
19g.7125488A>GCA403671400INSRc.3053T>C (p.Val1018Ala)
c.3017T>C (p.Val1006Ala)
c.3128T>C (p.Val1043Ala)
c.3092T>C (p.Val1031Ala)
c.3050T>C (p.Val1017Ala)
c.3014T>C (p.Val1005Ala)
19g.7125488A>TCA403671401INSRc.3053T>A (p.Val1018Glu)
c.3017T>A (p.Val1006Glu)
c.3128T>A (p.Val1043Glu)
c.3092T>A (p.Val1031Glu)
c.3050T>A (p.Val1017Glu)
c.3014T>A (p.Val1005Glu)
19g.7125489C>ACA403671402INSRc.3052G>T (p.Val1018Leu)
c.3016G>T (p.Val1006Leu)
c.3127G>T (p.Val1043Leu)
c.3091G>T (p.Val1031Leu)
c.3049G>T (p.Val1017Leu)
c.3013G>T (p.Val1005Leu)
ClinVar dbSNP
19g.7125489C>GCA403671404INSRc.3052G>C (p.Val1018Leu)
c.3016G>C (p.Val1006Leu)
c.3127G>C (p.Val1043Leu)
c.3091G>C (p.Val1031Leu)
c.3049G>C (p.Val1017Leu)
c.3013G>C (p.Val1005Leu)
19g.7125489C>TCA403671403INSRc.3052G>A (p.Val1018Met)
c.3016G>A (p.Val1006Met)
c.3127G>A (p.Val1043Met)
c.3091G>A (p.Val1031Met)
c.3049G>A (p.Val1017Met)
c.3013G>A (p.Val1005Met)
gnomAD v4
19g.7125490C>ACA403671405INSRc.3051G>T (p.Glu1017Asp)
c.3015G>T (p.Glu1005Asp)
c.3126G>T (p.Glu1042Asp)
c.3090G>T (p.Glu1030Asp)
c.3048G>T (p.Glu1016Asp)
c.3012G>T (p.Glu1004Asp)
19g.7125490C=CA2320767986INSRc.3051G= (p.Glu1017=)
c.3015G= (p.Glu1005=)
c.3126G= (p.Glu1042=)
c.3090G= (p.Glu1030=)
c.3048G= (p.Glu1016=)
c.3012G= (p.Glu1004=)
19g.7125490C>GCA403671406INSRc.3051G>C (p.Glu1017Asp)
c.3015G>C (p.Glu1005Asp)
c.3126G>C (p.Glu1042Asp)
c.3090G>C (p.Glu1030Asp)
c.3048G>C (p.Glu1016Asp)
c.3012G>C (p.Glu1004Asp)
gnomAD v4
19g.7125490C>TCA505400289INSRc.3051G>A (p.Glu1017=)
c.3015G>A (p.Glu1005=)
c.3126G>A (p.Glu1042=)
c.3090G>A (p.Glu1030=)
c.3048G>A (p.Glu1016=)
c.3012G>A (p.Glu1004=)
dbSNP gnomAD v2 gnomAD v4
19g.7125491T>ACA403671407INSRc.3050A>T (p.Glu1017Val)
c.3014A>T (p.Glu1005Val)
c.3125A>T (p.Glu1042Val)
c.3089A>T (p.Glu1030Val)
c.3047A>T (p.Glu1016Val)
c.3011A>T (p.Glu1004Val)
19g.7125491T>CCA403671408INSRc.3050A>G (p.Glu1017Gly)
c.3014A>G (p.Glu1005Gly)
c.3125A>G (p.Glu1042Gly)
c.3089A>G (p.Glu1030Gly)
c.3047A>G (p.Glu1016Gly)
c.3011A>G (p.Glu1004Gly)
19g.7125491T>GCA403671409INSRc.3050A>C (p.Glu1017Ala)
c.3014A>C (p.Glu1005Ala)
c.3125A>C (p.Glu1042Ala)
c.3089A>C (p.Glu1030Ala)
c.3047A>C (p.Glu1016Ala)
c.3011A>C (p.Glu1004Ala)
19g.7125492C>ACA403671410INSRc.3049G>T (p.Glu1017Ter)
c.3013G>T (p.Glu1005Ter)
c.3124G>T (p.Glu1042Ter)
c.3088G>T (p.Glu1030Ter)
c.3046G>T (p.Glu1016Ter)
c.3010G>T (p.Glu1004Ter)
19g.7125492C>GCA403671411INSRc.3049G>C (p.Glu1017Gln)
c.3013G>C (p.Glu1005Gln)
c.3124G>C (p.Glu1042Gln)
c.3088G>C (p.Glu1030Gln)
c.3046G>C (p.Glu1016Gln)
c.3010G>C (p.Glu1004Gln)
19g.7125492C>TCA403671412INSRc.3049G>A (p.Glu1017Lys)
c.3013G>A (p.Glu1005Lys)
c.3124G>A (p.Glu1042Lys)
c.3088G>A (p.Glu1030Lys)
c.3046G>A (p.Glu1016Lys)
c.3010G>A (p.Glu1004Lys)
19g.7125493C>ACA403671413INSRc.3048G>T (p.Trp1016Cys)
c.3012G>T (p.Trp1004Cys)
c.3123G>T (p.Trp1041Cys)
c.3087G>T (p.Trp1029Cys)
c.3045G>T (p.Trp1015Cys)
c.3009G>T (p.Trp1003Cys)
19g.7125493C>GCA403671414INSRc.3048G>C (p.Trp1016Cys)
c.3012G>C (p.Trp1004Cys)
c.3123G>C (p.Trp1041Cys)
c.3087G>C (p.Trp1029Cys)
c.3045G>C (p.Trp1015Cys)
c.3009G>C (p.Trp1003Cys)
19g.7125493C>TCA403671415INSRc.3048G>A (p.Trp1016Ter)
c.3012G>A (p.Trp1004Ter)
c.3123G>A (p.Trp1041Ter)
c.3087G>A (p.Trp1029Ter)
c.3045G>A (p.Trp1015Ter)
c.3009G>A (p.Trp1003Ter)
19g.7125494C>ACA403671418INSRc.3047G>T (p.Trp1016Leu)
c.3011G>T (p.Trp1004Leu)
c.3122G>T (p.Trp1041Leu)
c.3086G>T (p.Trp1029Leu)
c.3044G>T (p.Trp1015Leu)
c.3008G>T (p.Trp1003Leu)
19g.7125494C>GCA403671417INSRc.3047G>C (p.Trp1016Ser)
c.3011G>C (p.Trp1004Ser)
c.3122G>C (p.Trp1041Ser)
c.3086G>C (p.Trp1029Ser)
c.3044G>C (p.Trp1015Ser)
c.3008G>C (p.Trp1003Ser)
19g.7125494C>TCA403671416INSRc.3047G>A (p.Trp1016Ter)
c.3011G>A (p.Trp1004Ter)
c.3122G>A (p.Trp1041Ter)
c.3086G>A (p.Trp1029Ter)
c.3044G>A (p.Trp1015Ter)
c.3008G>A (p.Trp1003Ter)
19g.7125495A>CCA403671419INSRc.3046T>G (p.Trp1016Gly)
c.3010T>G (p.Trp1004Gly)
c.3121T>G (p.Trp1041Gly)
c.3085T>G (p.Trp1029Gly)
c.3043T>G (p.Trp1015Gly)
c.3007T>G (p.Trp1003Gly)
19g.7125495A>GCA403671420INSRc.3046T>C (p.Trp1016Arg)
c.3010T>C (p.Trp1004Arg)
c.3121T>C (p.Trp1041Arg)
c.3085T>C (p.Trp1029Arg)
c.3043T>C (p.Trp1015Arg)
c.3007T>C (p.Trp1003Arg)
19g.7125495A>TCA403671421INSRc.3046T>A (p.Trp1016Arg)
c.3010T>A (p.Trp1004Arg)
c.3121T>A (p.Trp1041Arg)
c.3085T>A (p.Trp1029Arg)
c.3043T>A (p.Trp1015Arg)
c.3007T>A (p.Trp1003Arg)
19g.7125496C>ACA403671422INSRc.3045G>T (p.Glu1015Asp)
c.3009G>T (p.Glu1003Asp)
c.3120G>T (p.Glu1040Asp)
c.3084G>T (p.Glu1028Asp)
c.3042G>T (p.Glu1014Asp)
c.3006G>T (p.Glu1002Asp)
19g.7125496C=CA2320767987INSRc.3045G= (p.Glu1015=)
c.3009G= (p.Glu1003=)
c.3120G= (p.Glu1040=)
c.3084G= (p.Glu1028=)
c.3042G= (p.Glu1014=)
c.3006G= (p.Glu1002=)
19g.7125496C>GCA403671423INSRc.3045G>C (p.Glu1015Asp)
c.3009G>C (p.Glu1003Asp)
c.3120G>C (p.Glu1040Asp)
c.3084G>C (p.Glu1028Asp)
c.3042G>C (p.Glu1014Asp)
c.3006G>C (p.Glu1002Asp)
dbSNP
19g.7125496C>TCA505400290INSRc.3045G>A (p.Glu1015=)
c.3009G>A (p.Glu1003=)
c.3120G>A (p.Glu1040=)
c.3084G>A (p.Glu1028=)
c.3042G>A (p.Glu1014=)
c.3006G>A (p.Glu1002=)
19g.7125497T>ACA403671424INSRc.3044A>T (p.Glu1015Val)
c.3008A>T (p.Glu1003Val)
c.3119A>T (p.Glu1040Val)
c.3083A>T (p.Glu1028Val)
c.3041A>T (p.Glu1014Val)
c.3005A>T (p.Glu1002Val)
19g.7125497T>CCA403671425INSRc.3044A>G (p.Glu1015Gly)
c.3008A>G (p.Glu1003Gly)
c.3119A>G (p.Glu1040Gly)
c.3083A>G (p.Glu1028Gly)
c.3041A>G (p.Glu1014Gly)
c.3005A>G (p.Glu1002Gly)
19g.7125497T>GCA403671426INSRc.3044A>C (p.Glu1015Ala)
c.3008A>C (p.Glu1003Ala)
c.3119A>C (p.Glu1040Ala)
c.3083A>C (p.Glu1028Ala)
c.3041A>C (p.Glu1014Ala)
c.3005A>C (p.Glu1002Ala)
dbSNP
19g.7125497T=CA2320767988INSRc.3044A= (p.Glu1015=)
c.3008A= (p.Glu1003=)
c.3119A= (p.Glu1040=)
c.3083A= (p.Glu1028=)
c.3041A= (p.Glu1014=)
c.3005A= (p.Glu1002=)
19g.7125498C>ACA403671427INSRc.3043G>T (p.Glu1015Ter)
c.3007G>T (p.Glu1003Ter)
c.3118G>T (p.Glu1040Ter)
c.3082G>T (p.Glu1028Ter)
c.3040G>T (p.Glu1014Ter)
c.3004G>T (p.Glu1002Ter)
19g.7125498C=CA2320767989INSRc.3043G= (p.Glu1015=)
c.3007G= (p.Glu1003=)
c.3118G= (p.Glu1040=)
c.3082G= (p.Glu1028=)
c.3040G= (p.Glu1014=)
c.3004G= (p.Glu1002=)
19g.7125498C>GCA403671428INSRc.3043G>C (p.Glu1015Gln)
c.3007G>C (p.Glu1003Gln)
c.3118G>C (p.Glu1040Gln)
c.3082G>C (p.Glu1028Gln)
c.3040G>C (p.Glu1014Gln)
c.3004G>C (p.Glu1002Gln)
19g.7125498C>TCA9135369INSRc.3043G>A (p.Glu1015Lys)
c.3007G>A (p.Glu1003Lys)
c.3118G>A (p.Glu1040Lys)
c.3082G>A (p.Glu1028Lys)
c.3040G>A (p.Glu1014Lys)
c.3004G>A (p.Glu1002Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125501_7125509delCA2587922099INSRc.3035_3043del (p.Val1012_Asp1014del)
c.2999_3007del (p.Val1000_Asp1002del)
c.3110_3118del (p.Val1037_Asp1039del)
c.3074_3082del (p.Val1025_Asp1027del)
c.3032_3040del (p.Val1011_Asp1013del)
c.2996_3004del (p.Val999_Asp1001del)
gnomAD v4
19g.7125499G>ACA9135370INSRc.3042C>T (p.Asp1014=)
c.3006C>T (p.Asp1002=)
c.3117C>T (p.Asp1039=)
c.3081C>T (p.Asp1027=)
c.3039C>T (p.Asp1013=)
c.3003C>T (p.Asp1001=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125499G>CCA403671430INSRc.3042C>G (p.Asp1014Glu)
c.3006C>G (p.Asp1002Glu)
c.3117C>G (p.Asp1039Glu)
c.3081C>G (p.Asp1027Glu)
c.3039C>G (p.Asp1013Glu)
c.3003C>G (p.Asp1001Glu)
19g.7125499G=CA2320767990INSRc.3042C= (p.Asp1014=)
c.3006C= (p.Asp1002=)
c.3117C= (p.Asp1039=)
c.3081C= (p.Asp1027=)
c.3039C= (p.Asp1013=)
c.3003C= (p.Asp1001=)
19g.7125499G>TCA403671429INSRc.3042C>A (p.Asp1014Glu)
c.3006C>A (p.Asp1002Glu)
c.3117C>A (p.Asp1039Glu)
c.3081C>A (p.Asp1027Glu)
c.3039C>A (p.Asp1013Glu)
c.3003C>A (p.Asp1001Glu)
19g.7125500T>ACA403671431INSRc.3041A>T (p.Asp1014Val)
c.3005A>T (p.Asp1002Val)
c.3116A>T (p.Asp1039Val)
c.3080A>T (p.Asp1027Val)
c.3038A>T (p.Asp1013Val)
c.3002A>T (p.Asp1001Val)
19g.7125500T>CCA403671432INSRc.3041A>G (p.Asp1014Gly)
c.3005A>G (p.Asp1002Gly)
c.3116A>G (p.Asp1039Gly)
c.3080A>G (p.Asp1027Gly)
c.3038A>G (p.Asp1013Gly)
c.3002A>G (p.Asp1001Gly)
19g.7125500T>GCA403671433INSRc.3041A>C (p.Asp1014Ala)
c.3005A>C (p.Asp1002Ala)
c.3116A>C (p.Asp1039Ala)
c.3080A>C (p.Asp1027Ala)
c.3038A>C (p.Asp1013Ala)
c.3002A>C (p.Asp1001Ala)
19g.7125501C>ACA403671434INSRc.3040G>T (p.Asp1014Tyr)
c.3004G>T (p.Asp1002Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3079G>T (p.Asp1027Tyr)
c.3037G>T (p.Asp1013Tyr)
c.3001G>T (p.Asp1001Tyr)
19g.7125501C>GCA403671435INSRc.3040G>C (p.Asp1014His)
c.3004G>C (p.Asp1002His)
c.3115G>C (p.Asp1039His)
c.3079G>C (p.Asp1027His)
c.3037G>C (p.Asp1013His)
c.3001G>C (p.Asp1001His)
19g.7125501C>TCA403671436INSRc.3040G>A (p.Asp1014Asn)
c.3004G>A (p.Asp1002Asn)
c.3115G>A (p.Asp1039Asn)
c.3079G>A (p.Asp1027Asn)
c.3037G>A (p.Asp1013Asn)
c.3001G>A (p.Asp1001Asn)
19g.7125502C>ACA505400292INSRc.3039G>T (p.Pro1013=)
c.3003G>T (p.Pro1001=)
c.3114G>T (p.Pro1038=)
c.3078G>T (p.Pro1026=)
c.3036G>T (p.Pro1012=)
c.3000G>T (p.Pro1000=)
dbSNP gnomAD v4
19g.7125502C=CA2320767991INSRc.3039G= (p.Pro1013=)
c.3003G= (p.Pro1001=)
c.3114G= (p.Pro1038=)
c.3078G= (p.Pro1026=)
c.3036G= (p.Pro1012=)
c.3000G= (p.Pro1000=)
19g.7125502C>GCA9135371INSRc.3039G>C (p.Pro1013=)
c.3003G>C (p.Pro1001=)
c.3114G>C (p.Pro1038=)
c.3078G>C (p.Pro1026=)
c.3036G>C (p.Pro1012=)
c.3000G>C (p.Pro1000=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125502C>TCA505400291INSRc.3039G>A (p.Pro1013=)
c.3003G>A (p.Pro1001=)
c.3114G>A (p.Pro1038=)
c.3078G>A (p.Pro1026=)
c.3036G>A (p.Pro1012=)
c.3000G>A (p.Pro1000=)
dbSNP gnomAD v2 gnomAD v4
19g.7125503G>ACA403671437INSRc.3038C>T (p.Pro1013Leu)
c.3002C>T (p.Pro1001Leu)
c.3113C>T (p.Pro1038Leu)
c.3077C>T (p.Pro1026Leu)
c.3035C>T (p.Pro1012Leu)
c.2999C>T (p.Pro1000Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125503G>CCA403671439INSRc.3038C>G (p.Pro1013Arg)
c.3002C>G (p.Pro1001Arg)
c.3113C>G (p.Pro1038Arg)
c.3077C>G (p.Pro1026Arg)
c.3035C>G (p.Pro1012Arg)
c.2999C>G (p.Pro1000Arg)
19g.7125503G=CA2320767992INSRc.3038C= (p.Pro1013=)
c.3002C= (p.Pro1001=)
c.3113C= (p.Pro1038=)
c.3077C= (p.Pro1026=)
c.3035C= (p.Pro1012=)
c.2999C= (p.Pro1000=)
19g.7125503G>TCA403671438INSRc.3038C>A (p.Pro1013Gln)
c.3002C>A (p.Pro1001Gln)
c.3113C>A (p.Pro1038Gln)
c.3077C>A (p.Pro1026Gln)
c.3035C>A (p.Pro1012Gln)
c.2999C>A (p.Pro1000Gln)
19g.7125504G>ACA403671440INSRc.3037C>T (p.Pro1013Ser)
c.3001C>T (p.Pro1001Ser)
c.3112C>T (p.Pro1038Ser)
c.3076C>T (p.Pro1026Ser)
c.3034C>T (p.Pro1012Ser)
c.2998C>T (p.Pro1000Ser)
19g.7125504G>CCA403671441INSRc.3037C>G (p.Pro1013Ala)
c.3001C>G (p.Pro1001Ala)
c.3112C>G (p.Pro1038Ala)
c.3076C>G (p.Pro1026Ala)
c.3034C>G (p.Pro1012Ala)
c.2998C>G (p.Pro1000Ala)
19g.7125504G>TCA403671442INSRc.3037C>A (p.Pro1013Thr)
c.3001C>A (p.Pro1001Thr)
c.3112C>A (p.Pro1038Thr)
c.3076C>A (p.Pro1026Thr)
c.3034C>A (p.Pro1012Thr)
c.2998C>A (p.Pro1000Thr)
19g.7125505C>ACA505400293INSRc.3036G>T (p.Val1012=)
c.3000G>T (p.Val1000=)
c.3111G>T (p.Val1037=)
c.3075G>T (p.Val1025=)
c.3033G>T (p.Val1011=)
c.2997G>T (p.Val999=)
19g.7125505C=CA2320767993INSRc.3036G= (p.Val1012=)
c.3000G= (p.Val1000=)
c.3111G= (p.Val1037=)
c.3075G= (p.Val1025=)
c.3033G= (p.Val1011=)
c.2997G= (p.Val999=)
19g.7125505C>GCA505400294INSRc.3036G>C (p.Val1012=)
c.3000G>C (p.Val1000=)
c.3111G>C (p.Val1037=)
c.3075G>C (p.Val1025=)
c.3033G>C (p.Val1011=)
c.2997G>C (p.Val999=)
19g.7125505C>TCA304873539INSRc.3036G>A (p.Val1012=)
c.3000G>A (p.Val1000=)
c.3111G>A (p.Val1037=)
c.3075G>A (p.Val1025=)
c.3033G>A (p.Val1011=)
c.2997G>A (p.Val999=)
dbSNP gnomAD v2 gnomAD v4
19g.7125506A>CCA403671445INSRc.3035T>G (p.Val1012Gly)
c.2999T>G (p.Val1000Gly)
c.3110T>G (p.Val1037Gly)
c.3074T>G (p.Val1025Gly)
c.3032T>G (p.Val1011Gly)
c.2996T>G (p.Val999Gly)
19g.7125506A>GCA403671443INSRc.3035T>C (p.Val1012Ala)
c.2999T>C (p.Val1000Ala)
c.3110T>C (p.Val1037Ala)
c.3074T>C (p.Val1025Ala)
c.3032T>C (p.Val1011Ala)
c.2996T>C (p.Val999Ala)
19g.7125506A>TCA403671444INSRc.3035T>A (p.Val1012Glu)
c.2999T>A (p.Val1000Glu)
c.3110T>A (p.Val1037Glu)
c.3074T>A (p.Val1025Glu)
c.3032T>A (p.Val1011Glu)
c.2996T>A (p.Val999Glu)
19g.7125507C>ACA403671446INSRc.3034G>T (p.Val1012Leu)
c.2998G>T (p.Val1000Leu)
c.3109G>T (p.Val1037Leu)
c.3073G>T (p.Val1025Leu)
c.3031G>T (p.Val1011Leu)
c.2995G>T (p.Val999Leu)
COSMIC COSMIC
19g.7125507C=CA2320767994INSRc.3034G= (p.Val1012=)
c.2998G= (p.Val1000=)
c.3109G= (p.Val1037=)
c.3073G= (p.Val1025=)
c.3031G= (p.Val1011=)
c.2995G= (p.Val999=)
19g.7125507C>GCA403671447INSRc.3034G>C (p.Val1012Leu)
c.2998G>C (p.Val1000Leu)
c.3109G>C (p.Val1037Leu)
c.3073G>C (p.Val1025Leu)
c.3031G>C (p.Val1011Leu)
c.2995G>C (p.Val999Leu)
19g.7125507C>TCA124262INSRc.3034G>A (p.Val1012Met)
c.2998G>A (p.Val1000Met)
c.3109G>A (p.Val1037Met)
c.3073G>A (p.Val1025Met)
c.3031G>A (p.Val1011Met)
c.2995G>A (p.Val999Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125508G>ACA9135372INSRc.3033C>T (p.Tyr1011=)
c.2997C>T (p.Tyr999=)
c.3108C>T (p.Tyr1036=)
c.3072C>T (p.Tyr1024=)
c.3030C>T (p.Tyr1010=)
c.2994C>T (p.Tyr998=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125508G>CCA403671448INSRc.3033C>G (p.Tyr1011Ter)
c.2997C>G (p.Tyr999Ter)
c.3108C>G (p.Tyr1036Ter)
c.3072C>G (p.Tyr1024Ter)
c.3030C>G (p.Tyr1010Ter)
c.2994C>G (p.Tyr998Ter)
19g.7125508G=CA2320767995INSRc.3033C= (p.Tyr1011=)
c.2997C= (p.Tyr999=)
c.3108C= (p.Tyr1036=)
c.3072C= (p.Tyr1024=)
c.3030C= (p.Tyr1010=)
c.2994C= (p.Tyr998=)
19g.7125508G>TCA403671449INSRc.3033C>A (p.Tyr1011Ter)
c.2997C>A (p.Tyr999Ter)
c.3108C>A (p.Tyr1036Ter)
c.3072C>A (p.Tyr1024Ter)
c.3030C>A (p.Tyr1010Ter)
c.2994C>A (p.Tyr998Ter)
19g.7125509T>ACA403671450INSRc.3032A>T (p.Tyr1011Phe)
c.2996A>T (p.Tyr999Phe)
c.3107A>T (p.Tyr1036Phe)
c.3071A>T (p.Tyr1024Phe)
c.3029A>T (p.Tyr1010Phe)
c.2993A>T (p.Tyr998Phe)
gnomAD v4
19g.7125509T>CCA403671451INSRc.3032A>G (p.Tyr1011Cys)
c.2996A>G (p.Tyr999Cys)
c.3107A>G (p.Tyr1036Cys)
c.3071A>G (p.Tyr1024Cys)
c.3029A>G (p.Tyr1010Cys)
c.2993A>G (p.Tyr998Cys)
19g.7125509T>GCA403671452INSRc.3032A>C (p.Tyr1011Ser)
c.2996A>C (p.Tyr999Ser)
c.3107A>C (p.Tyr1036Ser)
c.3071A>C (p.Tyr1024Ser)
c.3029A>C (p.Tyr1010Ser)
c.2993A>C (p.Tyr998Ser)
19g.7125510A>CCA403671453INSRc.3031T>G (p.Tyr1011Asp)
c.2995T>G (p.Tyr999Asp)
c.3106T>G (p.Tyr1036Asp)
c.3070T>G (p.Tyr1024Asp)
c.3028T>G (p.Tyr1010Asp)
c.2992T>G (p.Tyr998Asp)
19g.7125510A>GCA403671454INSRc.3031T>C (p.Tyr1011His)
c.2995T>C (p.Tyr999His)
c.3106T>C (p.Tyr1036His)
c.3070T>C (p.Tyr1024His)
c.3028T>C (p.Tyr1010His)
c.2992T>C (p.Tyr998His)
19g.7125510A>TCA403671455INSRc.3031T>A (p.Tyr1011Asn)
c.2995T>A (p.Tyr999Asn)
c.3106T>A (p.Tyr1036Asn)
c.3070T>A (p.Tyr1024Asn)
c.3028T>A (p.Tyr1010Asn)
c.2992T>A (p.Tyr998Asn)
19g.7125511C>ACA505400295INSRc.3030G>T (p.Val1010=)
c.2994G>T (p.Val998=)
c.3105G>T (p.Val1035=)
c.3069G>T (p.Val1023=)
c.3027G>T (p.Val1009=)
c.2991G>T (p.Val997=)
19g.7125511C>GCA505400296INSRc.3030G>C (p.Val1010=)
c.2994G>C (p.Val998=)
c.3105G>C (p.Val1035=)
c.3069G>C (p.Val1023=)
c.3027G>C (p.Val1009=)
c.2991G>C (p.Val997=)
19g.7125511C>TCA505400297INSRc.3030G>A (p.Val1010=)
c.2994G>A (p.Val998=)
c.3105G>A (p.Val1035=)
c.3069G>A (p.Val1023=)
c.3027G>A (p.Val1009=)
c.2991G>A (p.Val997=)
COSMIC COSMIC
19g.7125512A>CCA403671456INSRc.3029T>G (p.Val1010Gly)
c.2993T>G (p.Val998Gly)
c.3104T>G (p.Val1035Gly)
c.3068T>G (p.Val1023Gly)
c.3026T>G (p.Val1009Gly)
c.2990T>G (p.Val997Gly)
19g.7125512A>GCA403671458INSRc.3029T>C (p.Val1010Ala)
c.2993T>C (p.Val998Ala)
c.3104T>C (p.Val1035Ala)
c.3068T>C (p.Val1023Ala)
c.3026T>C (p.Val1009Ala)
c.2990T>C (p.Val997Ala)
gnomAD v4
19g.7125512A>TCA403671457INSRc.3029T>A (p.Val1010Glu)
c.2993T>A (p.Val998Glu)
c.3104T>A (p.Val1035Glu)
c.3068T>A (p.Val1023Glu)
c.3026T>A (p.Val1009Glu)
c.2990T>A (p.Val997Glu)
19g.7125513C>ACA403671459INSRc.3028G>T (p.Val1010Leu)
c.2992G>T (p.Val998Leu)
c.3103G>T (p.Val1035Leu)
c.3067G>T (p.Val1023Leu)
c.3025G>T (p.Val1009Leu)
c.2989G>T (p.Val997Leu)
19g.7125513C>GCA403671460INSRc.3028G>C (p.Val1010Leu)
c.2992G>C (p.Val998Leu)
c.3103G>C (p.Val1035Leu)
c.3067G>C (p.Val1023Leu)
c.3025G>C (p.Val1009Leu)
c.2989G>C (p.Val997Leu)
19g.7125513C>TCA403671461INSRc.3028G>A (p.Val1010Met)
c.2992G>A (p.Val998Met)
c.3103G>A (p.Val1035Met)
c.3067G>A (p.Val1023Met)
c.3025G>A (p.Val1009Met)
c.2989G>A (p.Val997Met)
19g.7125513_7125514insTTTTTTCA993105710INSRc.3027_3028insAAAAAA (p.Ser1009_Val1010insLysLys)
c.2991_2992insAAAAAA (p.Ser997_Val998insLysLys)
c.3102_3103insAAAAAA (p.Ser1034_Val1035insLysLys)
c.3066_3067insAAAAAA (p.Ser1022_Val1023insLysLys)
c.3024_3025insAAAAAA (p.Ser1008_Val1009insLysLys)
c.2988_2989insAAAAAA (p.Ser996_Val997insLysLys)
gnomAD v3 gnomAD v4
19g.7125514A>CCA505400298INSRc.3027T>G (p.Ser1009=)
c.2991T>G (p.Ser997=)
c.3102T>G (p.Ser1034=)
c.3066T>G (p.Ser1022=)
c.3024T>G (p.Ser1008=)
c.2988T>G (p.Ser996=)
19g.7125514A>GCA505400299INSRc.3027T>C (p.Ser1009=)
c.2991T>C (p.Ser997=)
c.3102T>C (p.Ser1034=)
c.3066T>C (p.Ser1022=)
c.3024T>C (p.Ser1008=)
c.2988T>C (p.Ser996=)
19g.7125514A>TCA505400300INSRc.3027T>A (p.Ser1009=)
c.2991T>A (p.Ser997=)
c.3102T>A (p.Ser1034=)
c.3066T>A (p.Ser1022=)
c.3024T>A (p.Ser1008=)
c.2988T>A (p.Ser996=)
19g.7125515G>ACA403671462INSRc.3026C>T (p.Ser1009Phe)
c.2990C>T (p.Ser997Phe)
c.3101C>T (p.Ser1034Phe)
c.3065C>T (p.Ser1022Phe)
c.3023C>T (p.Ser1008Phe)
c.2987C>T (p.Ser996Phe)
19g.7125515G>CCA403671463INSRc.3026C>G (p.Ser1009Cys)
c.2990C>G (p.Ser997Cys)
c.3101C>G (p.Ser1034Cys)
c.3065C>G (p.Ser1022Cys)
c.3023C>G (p.Ser1008Cys)
c.2987C>G (p.Ser996Cys)
gnomAD v4
19g.7125515G>TCA403671464INSRc.3026C>A (p.Ser1009Tyr)
c.2990C>A (p.Ser997Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3065C>A (p.Ser1022Tyr)
c.3023C>A (p.Ser1008Tyr)
c.2987C>A (p.Ser996Tyr)
19g.7125515_7125518delCA993105727INSRc.3023_3026del (p.Cys1008LeufsTer?)
c.2987_2990del (p.Cys996LeufsTer?)
c.3098_3101del (p.Cys1033LeufsTer?)
c.3062_3065del (p.Cys1021LeufsTer?)
c.3020_3023del (p.Cys1007LeufsTer?)
c.2984_2987del (p.Cys995LeufsTer?)
gnomAD v3 gnomAD v4
19g.7125516A>CCA403671465INSRc.3025T>G (p.Ser1009Ala)
c.2989T>G (p.Ser997Ala)
c.3100T>G (p.Ser1034Ala)
c.3064T>G (p.Ser1022Ala)
c.3022T>G (p.Ser1008Ala)
c.2986T>G (p.Ser996Ala)
19g.7125516A>GCA403671466INSRc.3025T>C (p.Ser1009Pro)
c.2989T>C (p.Ser997Pro)
c.3100T>C (p.Ser1034Pro)
c.3064T>C (p.Ser1022Pro)
c.3022T>C (p.Ser1008Pro)
c.2986T>C (p.Ser996Pro)
19g.7125516A>TCA403671467INSRc.3025T>A (p.Ser1009Thr)
c.2989T>A (p.Ser997Thr)
c.3100T>A (p.Ser1034Thr)
c.3064T>A (p.Ser1022Thr)
c.3022T>A (p.Ser1008Thr)
c.2986T>A (p.Ser996Thr)
19g.7125517G>ACA505400301INSRc.3024C>T (p.Cys1008=)
c.2988C>T (p.Cys996=)
c.3099C>T (p.Cys1033=)
c.3063C>T (p.Cys1021=)
c.3021C>T (p.Cys1007=)
c.2985C>T (p.Cys995=)
19g.7125517G>CCA403671468INSRc.3024C>G (p.Cys1008Trp)
c.2988C>G (p.Cys996Trp)
c.3099C>G (p.Cys1033Trp)
c.3063C>G (p.Cys1021Trp)
c.3021C>G (p.Cys1007Trp)
c.2985C>G (p.Cys995Trp)
19g.7125517G>TCA403671469INSRc.3024C>A (p.Cys1008Ter)
c.2988C>A (p.Cys996Ter)
c.3099C>A (p.Cys1033Ter)
c.3063C>A (p.Cys1021Ter)
c.3021C>A (p.Cys1007Ter)
c.2985C>A (p.Cys995Ter)
19g.7125518C>ACA403671472INSRc.3023G>T (p.Cys1008Phe)
c.2987G>T (p.Cys996Phe)
c.3098G>T (p.Cys1033Phe)
c.3062G>T (p.Cys1021Phe)
c.3020G>T (p.Cys1007Phe)
c.2984G>T (p.Cys995Phe)
19g.7125518C=CA2320767996INSRc.3023G= (p.Cys1008=)
c.2987G= (p.Cys996=)
c.3098G= (p.Cys1033=)
c.3062G= (p.Cys1021=)
c.3020G= (p.Cys1007=)
c.2984G= (p.Cys995=)
19g.7125518C>GCA403671471INSRc.3023G>C (p.Cys1008Ser)
c.2987G>C (p.Cys996Ser)
c.3098G>C (p.Cys1033Ser)
c.3062G>C (p.Cys1021Ser)
c.3020G>C (p.Cys1007Ser)
c.2984G>C (p.Cys995Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7125518C>TCA403671470INSRc.3023G>A (p.Cys1008Tyr)
c.2987G>A (p.Cys996Tyr)
c.3098G>A (p.Cys1033Tyr)
c.3062G>A (p.Cys1021Tyr)
c.3020G>A (p.Cys1007Tyr)
c.2984G>A (p.Cys995Tyr)
19g.7125519A=CA2320767997INSRc.3022T= (p.Cys1008=)
c.2986T= (p.Cys996=)
c.3097T= (p.Cys1033=)
c.3061T= (p.Cys1021=)
c.3019T= (p.Cys1007=)
c.2983T= (p.Cys995=)
19g.7125519A>CCA403671473INSRc.3022T>G (p.Cys1008Gly)
c.2986T>G (p.Cys996Gly)
c.3097T>G (p.Cys1033Gly)
c.3061T>G (p.Cys1021Gly)
c.3019T>G (p.Cys1007Gly)
c.2983T>G (p.Cys995Gly)
19g.7125519A>GCA403671474INSRc.3022T>C (p.Cys1008Arg)
c.2986T>C (p.Cys996Arg)
c.3097T>C (p.Cys1033Arg)
c.3061T>C (p.Cys1021Arg)
c.3019T>C (p.Cys1007Arg)
c.2983T>C (p.Cys995Arg)
dbSNP gnomAD v3 gnomAD v4
19g.7125519A>TCA403671475INSRc.3022T>A (p.Cys1008Ser)
c.2986T>A (p.Cys996Ser)
c.3097T>A (p.Cys1033Ser)
c.3061T>A (p.Cys1021Ser)
c.3019T>A (p.Cys1007Ser)
c.2983T>A (p.Cys995Ser)
19g.7125520T>ACA505400302INSRc.3021A>T (p.Pro1007=)
c.2985A>T (p.Pro995=)
c.3096A>T (p.Pro1032=)
c.3060A>T (p.Pro1020=)
c.3018A>T (p.Pro1006=)
c.2982A>T (p.Pro994=)
19g.7125520T>CCA304873546INSRc.3021A>G (p.Pro1007=)
c.2985A>G (p.Pro995=)
c.3096A>G (p.Pro1032=)
c.3060A>G (p.Pro1020=)
c.3018A>G (p.Pro1006=)
c.2982A>G (p.Pro994=)
dbSNP gnomAD v2 gnomAD v4
19g.7125520T>GCA505400303INSRc.3021A>C (p.Pro1007=)
c.2985A>C (p.Pro995=)
c.3096A>C (p.Pro1032=)
c.3060A>C (p.Pro1020=)
c.3018A>C (p.Pro1006=)
c.2982A>C (p.Pro994=)
19g.7125520T=CA2320767998INSRc.3021A= (p.Pro1007=)
c.2985A= (p.Pro995=)
c.3096A= (p.Pro1032=)
c.3060A= (p.Pro1020=)
c.3018A= (p.Pro1006=)
c.2982A= (p.Pro994=)
19g.7125521G>ACA403671476INSRc.3020C>T (p.Pro1007Leu)
c.2984C>T (p.Pro995Leu)
c.3095C>T (p.Pro1032Leu)
c.3059C>T (p.Pro1020Leu)
c.3017C>T (p.Pro1006Leu)
c.2981C>T (p.Pro994Leu)
19g.7125521G>CCA403671477INSRc.3020C>G (p.Pro1007Arg)
c.2984C>G (p.Pro995Arg)
c.3095C>G (p.Pro1032Arg)
c.3059C>G (p.Pro1020Arg)
c.3017C>G (p.Pro1006Arg)
c.2981C>G (p.Pro994Arg)
19g.7125521G>TCA403671478INSRc.3020C>A (p.Pro1007Gln)
c.2984C>A (p.Pro995Gln)
c.3095C>A (p.Pro1032Gln)
c.3059C>A (p.Pro1020Gln)
c.3017C>A (p.Pro1006Gln)
c.2981C>A (p.Pro994Gln)
gnomAD v4
19g.7125522delCA993105736INSRc.3020del (p.Pro1007HisfsTer?)
c.2984del (p.Pro995HisfsTer?)
c.3095del (p.Pro1032HisfsTer?)
c.3059del (p.Pro1020HisfsTer?)
c.3017del (p.Pro1006HisfsTer?)
c.2981del (p.Pro994HisfsTer?)
gnomAD v3 gnomAD v4
19g.7125522G>ACA304873548INSRc.3019C>T (p.Pro1007Ser)
c.2983C>T (p.Pro995Ser)
c.3094C>T (p.Pro1032Ser)
c.3058C>T (p.Pro1020Ser)
c.3016C>T (p.Pro1006Ser)
c.2980C>T (p.Pro994Ser)
dbSNP
19g.7125522G>CCA403671479INSRc.3019C>G (p.Pro1007Ala)
c.2983C>G (p.Pro995Ala)
c.3094C>G (p.Pro1032Ala)
c.3058C>G (p.Pro1020Ala)
c.3016C>G (p.Pro1006Ala)
c.2980C>G (p.Pro994Ala)
gnomAD v4
19g.7125522G=CA2320767999INSRc.3019C= (p.Pro1007=)
c.2983C= (p.Pro995=)
c.3094C= (p.Pro1032=)
c.3058C= (p.Pro1020=)
c.3016C= (p.Pro1006=)
c.2980C= (p.Pro994=)
19g.7125522G>TCA403671480INSRc.3019C>A (p.Pro1007Thr)
c.2983C>A (p.Pro995Thr)
c.3094C>A (p.Pro1032Thr)
c.3058C>A (p.Pro1020Thr)
c.3016C>A (p.Pro1006Thr)
c.2980C>A (p.Pro994Thr)
gnomAD v4
19g.7125523A=CA2320768000INSRc.3018T= (p.Phe1006=)
c.2982T= (p.Phe994=)
c.3093T= (p.Phe1031=)
c.3057T= (p.Phe1019=)
c.3015T= (p.Phe1005=)
c.2979T= (p.Phe993=)
19g.7125523A>CCA403671481INSRc.3018T>G (p.Phe1006Leu)
c.2982T>G (p.Phe994Leu)
c.3093T>G (p.Phe1031Leu)
c.3057T>G (p.Phe1019Leu)
c.3015T>G (p.Phe1005Leu)
c.2979T>G (p.Phe993Leu)
19g.7125523A>GCA9135373INSRc.3018T>C (p.Phe1006=)
c.2982T>C (p.Phe994=)
c.3093T>C (p.Phe1031=)
c.3057T>C (p.Phe1019=)
c.3015T>C (p.Phe1005=)
c.2979T>C (p.Phe993=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125523A>TCA403671482INSRc.3018T>A (p.Phe1006Leu)
c.2982T>A (p.Phe994Leu)
c.3093T>A (p.Phe1031Leu)
c.3057T>A (p.Phe1019Leu)
c.3015T>A (p.Phe1005Leu)
c.2979T>A (p.Phe993Leu)
dbSNP gnomAD v3 gnomAD v4
19g.7125524A>CCA403671484INSRc.3017T>G (p.Phe1006Cys)
c.2981T>G (p.Phe994Cys)
c.3092T>G (p.Phe1031Cys)
c.3056T>G (p.Phe1019Cys)
c.3014T>G (p.Phe1005Cys)
c.2978T>G (p.Phe993Cys)
19g.7125524A>GCA403671485INSRc.3017T>C (p.Phe1006Ser)
c.2981T>C (p.Phe994Ser)
c.3092T>C (p.Phe1031Ser)
c.3056T>C (p.Phe1019Ser)
c.3014T>C (p.Phe1005Ser)
c.2978T>C (p.Phe993Ser)
19g.7125524A>TCA403671483INSRc.3017T>A (p.Phe1006Tyr)
c.2981T>A (p.Phe994Tyr)
c.3092T>A (p.Phe1031Tyr)
c.3056T>A (p.Phe1019Tyr)
c.3014T>A (p.Phe1005Tyr)
c.2978T>A (p.Phe993Tyr)
gnomAD v3 gnomAD v4
19g.7125525A>CCA403671487INSRc.3016T>G (p.Phe1006Val)
c.2980T>G (p.Phe994Val)
c.3091T>G (p.Phe1031Val)
c.3055T>G (p.Phe1019Val)
c.3013T>G (p.Phe1005Val)
c.2977T>G (p.Phe993Val)
19g.7125525A>GCA403671486INSRc.3016T>C (p.Phe1006Leu)
c.2980T>C (p.Phe994Leu)
c.3091T>C (p.Phe1031Leu)
c.3055T>C (p.Phe1019Leu)
c.3013T>C (p.Phe1005Leu)
c.2977T>C (p.Phe993Leu)
19g.7125525A>TCA403671488INSRc.3016T>A (p.Phe1006Ile)
c.2980T>A (p.Phe994Ile)
c.3091T>A (p.Phe1031Ile)
c.3055T>A (p.Phe1019Ile)
c.3013T>A (p.Phe1005Ile)
c.2977T>A (p.Phe993Ile)
19g.7125526C>ACA505400304INSRc.3015G>T (p.Val1005=)
c.2979G>T (p.Val993=)
c.3090G>T (p.Val1030=)
c.3054G>T (p.Val1018=)
c.3012G>T (p.Val1004=)
c.2976G>T (p.Val992=)
19g.7125526C>GCA505400305INSRc.3015G>C (p.Val1005=)
c.2979G>C (p.Val993=)
c.3090G>C (p.Val1030=)
c.3054G>C (p.Val1018=)
c.3012G>C (p.Val1004=)
c.2976G>C (p.Val992=)
19g.7125526C>TCA505400306INSRc.3015G>A (p.Val1005=)
c.2979G>A (p.Val993=)
c.3090G>A (p.Val1030=)
c.3054G>A (p.Val1018=)
c.3012G>A (p.Val1004=)
c.2976G>A (p.Val992=)
gnomAD v4
19g.7125526_7125527insGGCGCA993105745INSRc.3014_3015insCGCC (p.Phe1006AlafsTer?)
c.2978_2979insCGCC (p.Phe994AlafsTer?)
c.3089_3090insCGCC (p.Phe1031AlafsTer?)
c.3053_3054insCGCC (p.Phe1019AlafsTer?)
c.3011_3012insCGCC (p.Phe1005AlafsTer?)
c.2975_2976insCGCC (p.Phe993AlafsTer?)
gnomAD v3 gnomAD v4
19g.7125527A=CA2320768001INSRc.3014T= (p.Val1005=)
c.2978T= (p.Val993=)
c.3089T= (p.Val1030=)
c.3053T= (p.Val1018=)
c.3011T= (p.Val1004=)
c.2975T= (p.Val992=)
19g.7125527A>CCA403671489INSRc.3014T>G (p.Val1005Gly)
c.2978T>G (p.Val993Gly)
c.3089T>G (p.Val1030Gly)
c.3053T>G (p.Val1018Gly)
c.3011T>G (p.Val1004Gly)
c.2975T>G (p.Val992Gly)
gnomAD v4
19g.7125527A>GCA403671490INSRc.3014T>C (p.Val1005Ala)
c.2978T>C (p.Val993Ala)
c.3089T>C (p.Val1030Ala)
c.3053T>C (p.Val1018Ala)
c.3011T>C (p.Val1004Ala)
c.2975T>C (p.Val992Ala)
gnomAD v4
19g.7125527A>TCA403671491INSRc.3014T>A (p.Val1005Glu)
c.2978T>A (p.Val993Glu)
c.3089T>A (p.Val1030Glu)
c.3053T>A (p.Val1018Glu)
c.3011T>A (p.Val1004Glu)
c.2975T>A (p.Val992Glu)
dbSNP gnomAD v2 gnomAD v4
19g.7125528C>ACA403671492INSRc.3014-1G>T (n.3014-1G>T)
c.2978-1G>T (n.2978-1G>T)
c.3089-1G>T (n.3089-1G>T)
c.3053-1G>T (n.3053-1G>T)
c.3011-1G>T (n.3011-1G>T)
c.2975-1G>T (n.2975-1G>T)
19g.7125528C>GCA403671493INSRc.3014-1G>C (n.3014-1G>C)
c.2978-1G>C (n.2978-1G>C)
c.3089-1G>C (n.3089-1G>C)
c.3053-1G>C (n.3053-1G>C)
c.3011-1G>C (n.3011-1G>C)
c.2975-1G>C (n.2975-1G>C)
19g.7125528C>TCA403671494INSRc.3014-1G>A (n.3014-1G>A)
c.2978-1G>A (n.2978-1G>A)
c.3089-1G>A (n.3089-1G>A)
c.3053-1G>A (n.3053-1G>A)
c.3011-1G>A (n.3011-1G>A)
c.2975-1G>A (n.2975-1G>A)
19g.7125529T>ACA403671495INSRc.3014-2A>T (n.3014-2A>T)
c.2978-2A>T (n.2978-2A>T)
c.3089-2A>T (n.3089-2A>T)
c.3053-2A>T (n.3053-2A>T)
c.3011-2A>T (n.3011-2A>T)
c.2975-2A>T (n.2975-2A>T)
19g.7125529T>CCA403671496INSRc.3014-2A>G (n.3014-2A>G)
c.2978-2A>G (n.2978-2A>G)
c.3089-2A>G (n.3089-2A>G)
c.3053-2A>G (n.3053-2A>G)
c.3011-2A>G (n.3011-2A>G)
c.2975-2A>G (n.2975-2A>G)
gnomAD v3 gnomAD v4
19g.7125529T>GCA403671497INSRc.3014-2A>C (n.3014-2A>C)
c.2978-2A>C (n.2978-2A>C)
c.3089-2A>C (n.3089-2A>C)
c.3053-2A>C (n.3053-2A>C)
c.3011-2A>C (n.3011-2A>C)
c.2975-2A>C (n.2975-2A>C)
19g.7125532T>CCA2587922100INSRc.3014-5A>G (n.3014-5A>G)
c.2978-5A>G (n.2978-5A>G)
c.3089-5A>G (n.3089-5A>G)
c.3053-5A>G (n.3053-5A>G)
c.3011-5A>G (n.3011-5A>G)
c.2975-5A>G (n.2975-5A>G)
gnomAD v4
19g.7125533T>ACA2587922101INSRc.3014-6A>T (n.3014-6A>T)
c.2978-6A>T (n.2978-6A>T)
c.3089-6A>T (n.3089-6A>T)
c.3053-6A>T (n.3053-6A>T)
c.3011-6A>T (n.3011-6A>T)
c.2975-6A>T (n.2975-6A>T)
gnomAD v4
19g.7125535T>CCA304873549INSRc.3014-8A>G (n.3014-8A>G)
c.2978-8A>G (n.2978-8A>G)
c.3089-8A>G (n.3089-8A>G)
c.3053-8A>G (n.3053-8A>G)
c.3011-8A>G (n.3011-8A>G)
c.2975-8A>G (n.2975-8A>G)
dbSNP gnomAD v3 gnomAD v4
19g.7125535T=CA2320768002INSRc.3014-8A= (n.3014-8A=)
c.2978-8A= (n.2978-8A=)
c.3089-8A= (n.3089-8A=)
c.3053-8A= (n.3053-8A=)
c.3011-8A= (n.3011-8A=)
c.2975-8A= (n.2975-8A=)
19g.7125536T>CCA2735470788INSRc.3014-9A>G (n.3014-9A>G)
c.2978-9A>G (n.2978-9A>G)
c.3089-9A>G (n.3089-9A>G)
c.3053-9A>G (n.3053-9A>G)
c.3011-9A>G (n.3011-9A>G)
c.2975-9A>G (n.2975-9A>G)
dbSNP
19g.7125537A>GCA2587922102INSRc.3014-10T>C (n.3014-10T>C)
c.2978-10T>C (n.2978-10T>C)
c.3089-10T>C (n.3089-10T>C)
c.3053-10T>C (n.3053-10T>C)
c.3011-10T>C (n.3011-10T>C)
c.2975-10T>C (n.2975-10T>C)
gnomAD v4
19g.7125537A>TCA2587922103INSRc.3014-10T>A (n.3014-10T>A)
c.2978-10T>A (n.2978-10T>A)
c.3089-10T>A (n.3089-10T>A)
c.3053-10T>A (n.3053-10T>A)
c.3011-10T>A (n.3011-10T>A)
c.2975-10T>A (n.2975-10T>A)
gnomAD v4

Number of alleles fetched