Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15180218A=CA2324744289NOTCH3c.3181T= (p.Cys1061=)
c.3022T= (p.Cys1008=)
c.3025T= (p.Cys1009=)
19g.15180218A>CCA404513834NOTCH3c.3181T>G (p.Cys1061Gly)
c.3022T>G (p.Cys1008Gly)
c.3025T>G (p.Cys1009Gly)
19g.15180218A>GCA404513837NOTCH3c.3181T>C (p.Cys1061Arg)
c.3022T>C (p.Cys1008Arg)
c.3025T>C (p.Cys1009Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15180218A>TCA404513839NOTCH3c.3181T>A (p.Cys1061Ser)
c.3022T>A (p.Cys1008Ser)
c.3025T>A (p.Cys1009Ser)
19g.15180219C>ACA404513843NOTCH3c.3180G>T (p.Gln1060His)
c.3021G>T (p.Gln1007His)
c.3024G>T (p.Gln1008His)
 dbSNP gnomAD v2 gnomAD v4
19g.15180219C=CA2324744290NOTCH3c.3180G= (p.Gln1060=)
c.3021G= (p.Gln1007=)
c.3024G= (p.Gln1008=)
19g.15180219C>GCA404513844NOTCH3c.3180G>C (p.Gln1060His)
c.3021G>C (p.Gln1007His)
c.3024G>C (p.Gln1008His)
19g.15180219C>TCA505824371NOTCH3c.3180G>A (p.Gln1060=)
c.3021G>A (p.Gln1007=)
c.3024G>A (p.Gln1008=)
19g.15180220T>ACA404513847NOTCH3c.3179A>T (p.Gln1060Leu)
c.3020A>T (p.Gln1007Leu)
c.3023A>T (p.Gln1008Leu)
19g.15180220T>CCA404513849NOTCH3c.3179A>G (p.Gln1060Arg)
c.3020A>G (p.Gln1007Arg)
c.3023A>G (p.Gln1008Arg)
19g.15180220T>GCA404513852NOTCH3c.3179A>C (p.Gln1060Pro)
c.3020A>C (p.Gln1007Pro)
c.3023A>C (p.Gln1008Pro)
19g.15180221G>ACA404513855NOTCH3c.3178C>T (p.Gln1060Ter)
c.3019C>T (p.Gln1007Ter)
c.3022C>T (p.Gln1008Ter)
 dbSNP
19g.15180221G>CCA404513858NOTCH3c.3178C>G (p.Gln1060Glu)
c.3019C>G (p.Gln1007Glu)
c.3022C>G (p.Gln1008Glu)
19g.15180221G>TCA404513864NOTCH3c.3178C>A (p.Gln1060Lys)
c.3019C>A (p.Gln1007Lys)
c.3022C>A (p.Gln1008Lys)
19g.15180222C>ACA505824382NOTCH3c.3177G>T (p.Gly1059=)
c.3018G>T (p.Gly1006=)
c.3021G>T (p.Gly1007=)
19g.15180222C=CA2324744291NOTCH3c.3177G= (p.Gly1059=)
c.3018G= (p.Gly1006=)
c.3021G= (p.Gly1007=)
19g.15180222C>GCA505824385NOTCH3c.3177G>C (p.Gly1059=)
c.3018G>C (p.Gly1006=)
c.3021G>C (p.Gly1007=)
19g.15180222C>TCA9263159NOTCH3c.3177G>A (p.Gly1059=)
c.3018G>A (p.Gly1006=)
c.3021G>A (p.Gly1007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180223C>ACA404513870NOTCH3c.3176G>T (p.Gly1059Val)
c.3017G>T (p.Gly1006Val)
c.3020G>T (p.Gly1007Val)
 dbSNP
19g.15180223C=CA2324744292NOTCH3c.3176G= (p.Gly1059=)
c.3017G= (p.Gly1006=)
c.3020G= (p.Gly1007=)
19g.15180223C>GCA404513868NOTCH3c.3176G>C (p.Gly1059Ala)
c.3017G>C (p.Gly1006Ala)
c.3020G>C (p.Gly1007Ala)
19g.15180223C>TCA404513871NOTCH3c.3176G>A (p.Gly1059Glu)
c.3017G>A (p.Gly1006Glu)
c.3020G>A (p.Gly1007Glu)
19g.15180224C>ACA404513874NOTCH3c.3175G>T (p.Gly1059Trp)
c.3016G>T (p.Gly1006Trp)
c.3019G>T (p.Gly1007Trp)
19g.15180224C>GCA404513879NOTCH3c.3175G>C (p.Gly1059Arg)
c.3016G>C (p.Gly1006Arg)
c.3019G>C (p.Gly1007Arg)
19g.15180224C>TCA404513876NOTCH3c.3175G>A (p.Gly1059Arg)
c.3016G>A (p.Gly1006Arg)
c.3019G>A (p.Gly1007Arg)
19g.15180225A=CA2324744293NOTCH3c.3174T= (p.Gly1058=)
c.3015T= (p.Gly1005=)
c.3018T= (p.Gly1006=)
19g.15180225A>CCA9263160NOTCH3c.3174T>G (p.Gly1058=)
c.3015T>G (p.Gly1005=)
c.3018T>G (p.Gly1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180225A>GCA505824415NOTCH3c.3174T>C (p.Gly1058=)
c.3015T>C (p.Gly1005=)
c.3018T>C (p.Gly1006=)
19g.15180225A>TCA505824418NOTCH3c.3174T>A (p.Gly1058=)
c.3015T>A (p.Gly1005=)
c.3018T>A (p.Gly1006=)
 dbSNP
19g.15180226C>ACA9263161NOTCH3c.3173G>T (p.Gly1058Val)
c.3014G>T (p.Gly1005Val)
c.3017G>T (p.Gly1006Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180226C=CA2324744294NOTCH3c.3173G= (p.Gly1058=)
c.3014G= (p.Gly1005=)
c.3017G= (p.Gly1006=)
19g.15180226C>GCA404513882NOTCH3c.3173G>C (p.Gly1058Ala)
c.3014G>C (p.Gly1005Ala)
c.3017G>C (p.Gly1006Ala)
19g.15180226C>TCA404513884NOTCH3c.3173G>A (p.Gly1058Asp)
c.3014G>A (p.Gly1005Asp)
c.3017G>A (p.Gly1006Asp)
19g.15180227C>ACA404513887NOTCH3c.3172G>T (p.Gly1058Cys)
c.3013G>T (p.Gly1005Cys)
c.3016G>T (p.Gly1006Cys)
 ClinVar
19g.15180227C>GCA404513890NOTCH3c.3172G>C (p.Gly1058Arg)
c.3013G>C (p.Gly1005Arg)
c.3016G>C (p.Gly1006Arg)
19g.15180227C>TCA404513892NOTCH3c.3172G>A (p.Gly1058Ser)
c.3013G>A (p.Gly1005Ser)
c.3016G>A (p.Gly1006Ser)
 gnomAD v4
19g.15180229_15180231delCA2583062883NOTCH3c.3170_3172del (p.Ala1057del)
c.3011_3013del (p.Ala1004del)
c.3014_3016del (p.Ala1005del)
 gnomAD v4
19g.15180228C>ACA505824434NOTCH3c.3171G>T (p.Ala1057=)
c.3012G>T (p.Ala1004=)
c.3015G>T (p.Ala1005=)
19g.15180228C=CA2324744295NOTCH3c.3171G= (p.Ala1057=)
c.3012G= (p.Ala1004=)
c.3015G= (p.Ala1005=)
19g.15180228C>GCA9263162NOTCH3c.3171G>C (p.Ala1057=)
c.3012G>C (p.Ala1004=)
c.3015G>C (p.Ala1005=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180228C>TCA505824437NOTCH3c.3171G>A (p.Ala1057=)
c.3012G>A (p.Ala1004=)
c.3015G>A (p.Ala1005=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180229G>ACA9263163NOTCH3c.3170C>T (p.Ala1057Val)
c.3011C>T (p.Ala1004Val)
c.3014C>T (p.Ala1005Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180229G>CCA404513894NOTCH3c.3170C>G (p.Ala1057Gly)
c.3011C>G (p.Ala1004Gly)
c.3014C>G (p.Ala1005Gly)
 dbSNP
19g.15180229G=CA2324744296NOTCH3c.3170C= (p.Ala1057=)
c.3011C= (p.Ala1004=)
c.3014C= (p.Ala1005=)
19g.15180229G>TCA404513896NOTCH3c.3170C>A (p.Ala1057Glu)
c.3011C>A (p.Ala1004Glu)
c.3014C>A (p.Ala1005Glu)
19g.15180230C>ACA404513901NOTCH3c.3169G>T (p.Ala1057Ser)
c.3010G>T (p.Ala1004Ser)
c.3013G>T (p.Ala1005Ser)
19g.15180230C>GCA404513898NOTCH3c.3169G>C (p.Ala1057Pro)
c.3010G>C (p.Ala1004Pro)
c.3013G>C (p.Ala1005Pro)
19g.15180230C>TCA404513900NOTCH3c.3169G>A (p.Ala1057Thr)
c.3010G>A (p.Ala1004Thr)
c.3013G>A (p.Ala1005Thr)
 dbSNP gnomAD v4
19g.15180231C>ACA404513903NOTCH3c.3168G>T (p.Gln1056His)
c.3009G>T (p.Gln1003His)
c.3012G>T (p.Gln1004His)
19g.15180231C>GCA404513904NOTCH3c.3168G>C (p.Gln1056His)
c.3009G>C (p.Gln1003His)
c.3012G>C (p.Gln1004His)
 COSMIC COSMIC
19g.15180231C>TCA505824461NOTCH3c.3168G>A (p.Gln1056=)
c.3009G>A (p.Gln1003=)
c.3012G>A (p.Gln1004=)
19g.15180231_15180247dupCA2583062884NOTCH3c.3152_3168dup (p.Ala1057TrpfsTer?)
c.2993_3009dup (p.Ala1004TrpfsTer?)
c.2996_3012dup (p.Ala1005TrpfsTer?)
 gnomAD v4
19g.15180232T>ACA404513906NOTCH3c.3167A>T (p.Gln1056Leu)
c.3008A>T (p.Gln1003Leu)
c.3011A>T (p.Gln1004Leu)
19g.15180232T>CCA404513908NOTCH3c.3167A>G (p.Gln1056Arg)
c.3008A>G (p.Gln1003Arg)
c.3011A>G (p.Gln1004Arg)
19g.15180232T>GCA404513909NOTCH3c.3167A>C (p.Gln1056Pro)
c.3008A>C (p.Gln1003Pro)
c.3011A>C (p.Gln1004Pro)
19g.15180233G>ACA404513910NOTCH3c.3166C>T (p.Gln1056Ter)
c.3007C>T (p.Gln1003Ter)
c.3010C>T (p.Gln1004Ter)
19g.15180233G>CCA404513911NOTCH3c.3166C>G (p.Gln1056Glu)
c.3007C>G (p.Gln1003Glu)
c.3010C>G (p.Gln1004Glu)
19g.15180233G>TCA404513913NOTCH3c.3166C>A (p.Gln1056Lys)
c.3007C>A (p.Gln1003Lys)
c.3010C>A (p.Gln1004Lys)
19g.15180234A>CCA404513915NOTCH3c.3165T>G (p.Cys1055Trp)
c.3006T>G (p.Cys1002Trp)
c.3009T>G (p.Cys1003Trp)
19g.15180234A>GCA505824481NOTCH3c.3165T>C (p.Cys1055=)
c.3006T>C (p.Cys1002=)
c.3009T>C (p.Cys1003=)
 dbSNP gnomAD v4
19g.15180234A>TCA404513916NOTCH3c.3165T>A (p.Cys1055Ter)
c.3006T>A (p.Cys1002Ter)
c.3009T>A (p.Cys1003Ter)
19g.15180235C>ACA404513918NOTCH3c.3164G>T (p.Cys1055Phe)
c.3005G>T (p.Cys1002Phe)
c.3008G>T (p.Cys1003Phe)
19g.15180235C>GCA404513920NOTCH3c.3164G>C (p.Cys1055Ser)
c.3005G>C (p.Cys1002Ser)
c.3008G>C (p.Cys1003Ser)
19g.15180235C>TCA404513917NOTCH3c.3164G>A (p.Cys1055Tyr)
c.3005G>A (p.Cys1002Tyr)
c.3008G>A (p.Cys1003Tyr)
 gnomAD v4
19g.15180236A>CCA404513921NOTCH3c.3163T>G (p.Cys1055Gly)
c.3004T>G (p.Cys1002Gly)
c.3007T>G (p.Cys1003Gly)
19g.15180236A>GCA404513923NOTCH3c.3163T>C (p.Cys1055Arg)
c.3004T>C (p.Cys1002Arg)
c.3007T>C (p.Cys1003Arg)
19g.15180236A>TCA404513925NOTCH3c.3163T>A (p.Cys1055Ser)
c.3004T>A (p.Cys1002Ser)
c.3007T>A (p.Cys1003Ser)
19g.15180237C>ACA505824504NOTCH3c.3162G>T (p.Leu1054=)
c.3003G>T (p.Leu1001=)
c.3006G>T (p.Leu1002=)
 dbSNP
19g.15180237C=CA2324744297NOTCH3c.3162G= (p.Leu1054=)
c.3003G= (p.Leu1001=)
c.3006G= (p.Leu1002=)
19g.15180237C>GCA505824507NOTCH3c.3162G>C (p.Leu1054=)
c.3003G>C (p.Leu1001=)
c.3006G>C (p.Leu1002=)
 gnomAD v4
19g.15180237C>TCA505824511NOTCH3c.3162G>A (p.Leu1054=)
c.3003G>A (p.Leu1001=)
c.3006G>A (p.Leu1002=)
19g.15180238A>CCA404513926NOTCH3c.3161T>G (p.Leu1054Arg)
c.3002T>G (p.Leu1001Arg)
c.3005T>G (p.Leu1002Arg)
 COSMIC
19g.15180238A>GCA404513927NOTCH3c.3161T>C (p.Leu1054Pro)
c.3002T>C (p.Leu1001Pro)
c.3005T>C (p.Leu1002Pro)
19g.15180238A>TCA404513929NOTCH3c.3161T>A (p.Leu1054Gln)
c.3002T>A (p.Leu1001Gln)
c.3005T>A (p.Leu1002Gln)
19g.15180239G>ACA505824526NOTCH3c.3160C>T (p.Leu1054=)
c.3001C>T (p.Leu1001=)
c.3004C>T (p.Leu1002=)
 dbSNP gnomAD v4
19g.15180239G>CCA404513930NOTCH3c.3160C>G (p.Leu1054Val)
c.3001C>G (p.Leu1001Val)
c.3004C>G (p.Leu1002Val)
19g.15180239G=CA2324744298NOTCH3c.3160C= (p.Leu1054=)
c.3001C= (p.Leu1001=)
c.3004C= (p.Leu1002=)
19g.15180239G>TCA404513931NOTCH3c.3160C>A (p.Leu1054Met)
c.3001C>A (p.Leu1001Met)
c.3004C>A (p.Leu1002Met)
 gnomAD v4
19g.15180240C>ACA404513932NOTCH3c.3159G>T (p.Gln1053His)
c.3000G>T (p.Gln1000His)
c.3003G>T (p.Gln1001His)
 dbSNP gnomAD v3 gnomAD v4
19g.15180240C=CA2324744299NOTCH3c.3159G= (p.Gln1053=)
c.3000G= (p.Gln1000=)
c.3003G= (p.Gln1001=)
19g.15180240C>GCA404513933NOTCH3c.3159G>C (p.Gln1053His)
c.3000G>C (p.Gln1000His)
c.3003G>C (p.Gln1001His)
19g.15180240C>TCA505824536NOTCH3c.3159G>A (p.Gln1053=)
c.3000G>A (p.Gln1000=)
c.3003G>A (p.Gln1001=)
 dbSNP
19g.15180241T>ACA404513935NOTCH3c.3158A>T (p.Gln1053Leu)
c.2999A>T (p.Gln1000Leu)
c.3002A>T (p.Gln1001Leu)
19g.15180241T>CCA404513937NOTCH3c.3158A>G (p.Gln1053Arg)
c.2999A>G (p.Gln1000Arg)
c.3002A>G (p.Gln1001Arg)
19g.15180241T>GCA404513938NOTCH3c.3158A>C (p.Gln1053Pro)
c.2999A>C (p.Gln1000Pro)
c.3002A>C (p.Gln1001Pro)
19g.15180242G>ACA404513941NOTCH3c.3157C>T (p.Gln1053Ter)
c.2998C>T (p.Gln1000Ter)
c.3001C>T (p.Gln1001Ter)
 dbSNP gnomAD v4
19g.15180242G>CCA404513940NOTCH3c.3157C>G (p.Gln1053Glu)
c.2998C>G (p.Gln1000Glu)
c.3001C>G (p.Gln1001Glu)
19g.15180242G>TCA404513939NOTCH3c.3157C>A (p.Gln1053Lys)
c.2998C>A (p.Gln1000Lys)
c.3001C>A (p.Gln1001Lys)
19g.15180243C>ACA404513942NOTCH3c.3156G>T (p.Glu1052Asp)
c.2997G>T (p.Glu999Asp)
c.3000G>T (p.Glu1000Asp)
19g.15180243C=CA2324744300NOTCH3c.3156G= (p.Glu1052=)
c.2997G= (p.Glu999=)
c.3000G= (p.Glu1000=)
19g.15180243C>GCA404513943NOTCH3c.3156G>C (p.Glu1052Asp)
c.2997G>C (p.Glu999Asp)
c.3000G>C (p.Glu1000Asp)
19g.15180243C>TCA505824567NOTCH3c.3156G>A (p.Glu1052=)
c.2997G>A (p.Glu999=)
c.3000G>A (p.Glu1000=)
 dbSNP gnomAD v4
19g.15180244T>ACA404513944NOTCH3c.3155A>T (p.Glu1052Val)
c.2996A>T (p.Glu999Val)
c.2999A>T (p.Glu1000Val)
19g.15180244T>CCA9263164NOTCH3c.3155A>G (p.Glu1052Gly)
c.2996A>G (p.Glu999Gly)
c.2999A>G (p.Glu1000Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180244T>GCA404513946NOTCH3c.3155A>C (p.Glu1052Ala)
c.2996A>C (p.Glu999Ala)
c.2999A>C (p.Glu1000Ala)
19g.15180244T=CA2324744301NOTCH3c.3155A= (p.Glu1052=)
c.2996A= (p.Glu999=)
c.2999A= (p.Glu1000=)
19g.15180245C>ACA404513947NOTCH3c.3154G>T (p.Glu1052Ter)
c.2995G>T (p.Glu999Ter)
c.2998G>T (p.Glu1000Ter)
19g.15180245C>GCA404513949NOTCH3c.3154G>C (p.Glu1052Gln)
c.2995G>C (p.Glu999Gln)
c.2998G>C (p.Glu1000Gln)
 dbSNP
19g.15180245C>TCA404513950NOTCH3c.3154G>A (p.Glu1052Lys)
c.2995G>A (p.Glu999Lys)
c.2998G>A (p.Glu1000Lys)
19g.15180246C>ACA505824586NOTCH3c.3153G>T (p.Leu1051=)
c.2994G>T (p.Leu998=)
c.2997G>T (p.Leu999=)
19g.15180246C>GCA505824595NOTCH3c.3153G>C (p.Leu1051=)
c.2994G>C (p.Leu998=)
c.2997G>C (p.Leu999=)
19g.15180246C>TCA505824596NOTCH3c.3153G>A (p.Leu1051=)
c.2994G>A (p.Leu998=)
c.2997G>A (p.Leu999=)
19g.15180247A>CCA404513951NOTCH3c.3152T>G (p.Leu1051Arg)
c.2993T>G (p.Leu998Arg)
c.2996T>G (p.Leu999Arg)
19g.15180247A>GCA404513953NOTCH3c.3152T>C (p.Leu1051Pro)
c.2993T>C (p.Leu998Pro)
c.2996T>C (p.Leu999Pro)
19g.15180247A>TCA404513954NOTCH3c.3152T>A (p.Leu1051Gln)
c.2993T>A (p.Leu998Gln)
c.2996T>A (p.Leu999Gln)
19g.15180248G>ACA505824599NOTCH3c.3151C>T (p.Leu1051=)
c.2992C>T (p.Leu998=)
c.2995C>T (p.Leu999=)
19g.15180248G>CCA404513956NOTCH3c.3151C>G (p.Leu1051Val)
c.2992C>G (p.Leu998Val)
c.2995C>G (p.Leu999Val)
19g.15180248G>TCA404513957NOTCH3c.3151C>A (p.Leu1051Met)
c.2992C>A (p.Leu998Met)
c.2995C>A (p.Leu999Met)
 gnomAD v4
19g.15180249C>ACA505824619NOTCH3c.3150G>T (p.Arg1050=)
c.2991G>T (p.Arg997=)
c.2994G>T (p.Arg998=)
 COSMIC COSMIC
19g.15180249C>GCA505824622NOTCH3c.3150G>C (p.Arg1050=)
c.2991G>C (p.Arg997=)
c.2994G>C (p.Arg998=)
19g.15180249C>TCA505824615NOTCH3c.3150G>A (p.Arg1050=)
c.2991G>A (p.Arg997=)
c.2994G>A (p.Arg998=)
 dbSNP
19g.15180250C>ACA404513960NOTCH3c.3149G>T (p.Arg1050Leu)
c.2990G>T (p.Arg997Leu)
c.2993G>T (p.Arg998Leu)
 COSMIC COSMIC
19g.15180250C=CA2324744302NOTCH3c.3149G= (p.Arg1050=)
c.2990G= (p.Arg997=)
c.2993G= (p.Arg998=)
19g.15180250C>GCA404513961NOTCH3c.3149G>C (p.Arg1050Pro)
c.2990G>C (p.Arg997Pro)
c.2993G>C (p.Arg998Pro)
19g.15180250C>TCA9263165NOTCH3c.3149G>A (p.Arg1050Gln)
c.2990G>A (p.Arg997Gln)
c.2993G>A (p.Arg998Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180251G>ACA9263166NOTCH3c.3148C>T (p.Arg1050Trp)
c.2989C>T (p.Arg997Trp)
c.2992C>T (p.Arg998Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180251G>CCA404513963NOTCH3c.3148C>G (p.Arg1050Gly)
c.2989C>G (p.Arg997Gly)
c.2992C>G (p.Arg998Gly)
19g.15180251G=CA2324744303NOTCH3c.3148C= (p.Arg1050=)
c.2989C= (p.Arg997=)
c.2992C= (p.Arg998=)
19g.15180251G>TCA9263167NOTCH3c.3148C>A (p.Arg1050=)
c.2989C>A (p.Arg997=)
c.2992C>A (p.Arg998=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180252C>ACA505824650NOTCH3c.3147G>T (p.Val1049=)
c.2988G>T (p.Val996=)
c.2991G>T (p.Val997=)
19g.15180252C>GCA505824646NOTCH3c.3147G>C (p.Val1049=)
c.2988G>C (p.Val996=)
c.2991G>C (p.Val997=)
19g.15180252C>TCA505824643NOTCH3c.3147G>A (p.Val1049=)
c.2988G>A (p.Val996=)
c.2991G>A (p.Val997=)
19g.15180253A>CCA404513965NOTCH3c.3146T>G (p.Val1049Gly)
c.2987T>G (p.Val996Gly)
c.2990T>G (p.Val997Gly)
 dbSNP
19g.15180253A>GCA404513966NOTCH3c.3146T>C (p.Val1049Ala)
c.2987T>C (p.Val996Ala)
c.2990T>C (p.Val997Ala)
19g.15180253A>TCA404513967NOTCH3c.3146T>A (p.Val1049Glu)
c.2987T>A (p.Val996Glu)
c.2990T>A (p.Val997Glu)
19g.15180254C>ACA404513970NOTCH3c.3145G>T (p.Val1049Leu)
c.2986G>T (p.Val996Leu)
c.2989G>T (p.Val997Leu)
19g.15180254C>GCA404513969NOTCH3c.3145G>C (p.Val1049Leu)
c.2986G>C (p.Val996Leu)
c.2989G>C (p.Val997Leu)
19g.15180254C>TCA404513968NOTCH3c.3145G>A (p.Val1049Met)
c.2986G>A (p.Val996Met)
c.2989G>A (p.Val997Met)
19g.15180255C>ACA505824671NOTCH3c.3144G>T (p.Gly1048=)
c.2985G>T (p.Gly995=)
c.2988G>T (p.Gly996=)
19g.15180255C>GCA505824676NOTCH3c.3144G>C (p.Gly1048=)
c.2985G>C (p.Gly995=)
c.2988G>C (p.Gly996=)
 dbSNP
19g.15180255C>TCA505824674NOTCH3c.3144G>A (p.Gly1048=)
c.2985G>A (p.Gly995=)
c.2988G>A (p.Gly996=)
19g.15180256C>ACA404513971NOTCH3c.3143G>T (p.Gly1048Val)
c.2984G>T (p.Gly995Val)
c.2987G>T (p.Gly996Val)
 dbSNP
19g.15180256C>GCA404513972NOTCH3c.3143G>C (p.Gly1048Ala)
c.2984G>C (p.Gly995Ala)
c.2987G>C (p.Gly996Ala)
 dbSNP
19g.15180256C>TCA404513973NOTCH3c.3143G>A (p.Gly1048Glu)
c.2984G>A (p.Gly995Glu)
c.2987G>A (p.Gly996Glu)
19g.15180257C>ACA404513974NOTCH3c.3143-1G>T (n.3143-1G>T)
c.2984-1G>T (n.2984-1G>T)
c.2987-1G>T (n.2987-1G>T)
19g.15180257C>GCA404513975NOTCH3c.3143-1G>C (n.3143-1G>C)
c.2984-1G>C (n.2984-1G>C)
c.2987-1G>C (n.2987-1G>C)
19g.15180257C>TCA404513976NOTCH3c.3143-1G>A (n.3143-1G>A)
c.2984-1G>A (n.2984-1G>A)
c.2987-1G>A (n.2987-1G>A)
19g.15180258T>ACA404513978NOTCH3c.3143-2A>T (n.3143-2A>T)
c.2984-2A>T (n.2984-2A>T)
c.2987-2A>T (n.2987-2A>T)
19g.15180258T>CCA404513981NOTCH3c.3143-2A>G (n.3143-2A>G)
c.2984-2A>G (n.2984-2A>G)
c.2987-2A>G (n.2987-2A>G)
19g.15180258T>GCA404513979NOTCH3c.3143-2A>C (n.3143-2A>C)
c.2984-2A>C (n.2984-2A>C)
c.2987-2A>C (n.2987-2A>C)
19g.15180259G>ACA2583062885NOTCH3c.3143-3C>T (n.3143-3C>T)
c.2984-3C>T (n.2984-3C>T)
c.2987-3C>T (n.2987-3C>T)
 dbSNP gnomAD v4
19g.15180259G>TCA645600799NOTCH3c.3143-3C>A (n.3143-3C>A)
c.2984-3C>A (n.2984-3C>A)
c.2987-3C>A (n.2987-3C>A)
 COSMIC COSMIC
19g.15180260C>ACA9263168NOTCH3c.3143-4G>T (n.3143-4G>T)
c.2984-4G>T (n.2984-4G>T)
c.2987-4G>T (n.2987-4G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180260C=CA2324744304NOTCH3c.3143-4G= (n.3143-4G=)
c.2984-4G= (n.2984-4G=)
c.2987-4G= (n.2987-4G=)
19g.15180260C>GCA2583062887NOTCH3c.3143-4G>C (n.3143-4G>C)
c.2984-4G>C (n.2984-4G>C)
c.2987-4G>C (n.2987-4G>C)
 gnomAD v4
19g.15180260C>TCA2583062886NOTCH3c.3143-4G>A (n.3143-4G>A)
c.2984-4G>A (n.2984-4G>A)
c.2987-4G>A (n.2987-4G>A)
 gnomAD v4
19g.15180261A>GCA2583062888NOTCH3c.3143-5T>C (n.3143-5T>C)
c.2984-5T>C (n.2984-5T>C)
c.2987-5T>C (n.2987-5T>C)
 gnomAD v4
19g.15180263A>GCA2580096646NOTCH3c.3143-7T>C (n.3143-7T>C)
c.2984-7T>C (n.2984-7T>C)
c.2987-7T>C (n.2987-7T>C)
 ClinVar
19g.15180263_15180266delinsAGAGCA2324744305NOTCH3c.3143-10_3143-7delinsCTCT (n.3143-10_3143-7delinsCTCT)
c.2984-10_2984-7delinsCTCT (n.2984-10_2984-7delinsCTCT)
c.2987-10_2987-7delinsCTCT (n.2987-10_2987-7delinsCTCT)
19g.15180264G>CCA2735795559NOTCH3c.3143-8C>G (n.3143-8C>G)
c.2984-8C>G (n.2984-8C>G)
c.2987-8C>G (n.2987-8C>G)
 dbSNP
19g.15180267_15180269delCA783615642NOTCH3c.3143-10_3143-8del (n.3143-10_3143-8del)
c.2984-10_2984-8del (n.2984-10_2984-8del)
c.2987-10_2987-8del (n.2987-10_2987-8del)
 dbSNP gnomAD v3 gnomAD v4
19g.15180265A=CA2324744306NOTCH3c.3143-9T= (n.3143-9T=)
c.2984-9T= (n.2984-9T=)
c.2987-9T= (n.2987-9T=)
19g.15180265A>GCA632128163NOTCH3c.3143-9T>C (n.3143-9T>C)
c.2984-9T>C (n.2984-9T>C)
c.2987-9T>C (n.2987-9T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180265A>TCA2583062889NOTCH3c.3143-9T>A (n.3143-9T>A)
c.2984-9T>A (n.2984-9T>A)
c.2987-9T>A (n.2987-9T>A)
 gnomAD v4
19g.15180266G>ACA2583062890NOTCH3c.3143-10C>T (n.3143-10C>T)
c.2984-10C>T (n.2984-10C>T)
c.2987-10C>T (n.2987-10C>T)
 gnomAD v4
19g.15180266G>CCA2583062891NOTCH3c.3143-10C>G (n.3143-10C>G)
c.2984-10C>G (n.2984-10C>G)
c.2987-10C>G (n.2987-10C>G)
 gnomAD v4
19g.15180267G>ACA2583062892NOTCH3c.3143-11C>T (n.3143-11C>T)
c.2984-11C>T (n.2984-11C>T)
c.2987-11C>T (n.2987-11C>T)
 gnomAD v4
19g.15180267G>CCA2576654455NOTCH3c.3143-11C>G (n.3143-11C>G)
c.2984-11C>G (n.2984-11C>G)
c.2987-11C>G (n.2987-11C>G)
19g.15180269G>CCA632128164NOTCH3c.3143-13C>G (n.3143-13C>G)
c.2984-13C>G (n.2984-13C>G)
c.2987-13C>G (n.2987-13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180269G=CA2324744307NOTCH3c.3143-13C= (n.3143-13C=)
c.2984-13C= (n.2984-13C=)
c.2987-13C= (n.2987-13C=)
19g.15180274G>ACA9263169NOTCH3c.3143-18C>T (n.3143-18C>T)
c.2984-18C>T (n.2984-18C>T)
c.2987-18C>T (n.2987-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180274G>CCA2576654456NOTCH3c.3143-18C>G (n.3143-18C>G)
c.2984-18C>G (n.2984-18C>G)
c.2987-18C>G (n.2987-18C>G)
 gnomAD v4
19g.15180274G=CA2324744308NOTCH3c.3143-18C= (n.3143-18C=)
c.2984-18C= (n.2984-18C=)
c.2987-18C= (n.2987-18C=)
19g.15180275C>ACA2813714775NOTCH3c.3143-19G>T (n.3143-19G>T)
c.2984-19G>T (n.2984-19G>T)
c.2987-19G>T (n.2987-19G>T)
19g.15180277C>GCA2583062893NOTCH3c.3143-21G>C (n.3143-21G>C)
c.2984-21G>C (n.2984-21G>C)
c.2987-21G>C (n.2987-21G>C)
 gnomAD v4
19g.15180277C>TCA2583062894NOTCH3c.3143-21G>A (n.3143-21G>A)
c.2984-21G>A (n.2984-21G>A)
c.2987-21G>A (n.2987-21G>A)
 gnomAD v4
19g.15180279G>ACA993900338NOTCH3c.3143-23C>T (n.3143-23C>T)
c.2984-23C>T (n.2984-23C>T)
c.2987-23C>T (n.2987-23C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180279G=CA2324744309NOTCH3c.3143-23C= (n.3143-23C=)
c.2984-23C= (n.2984-23C=)
c.2987-23C= (n.2987-23C=)
19g.15180279G>TCA2583062895NOTCH3c.3143-23C>A (n.3143-23C>A)
c.2984-23C>A (n.2984-23C>A)
c.2987-23C>A (n.2987-23C>A)
 gnomAD v4
19g.15180280G>ACA2576654457NOTCH3c.3143-24C>T (n.3143-24C>T)
c.2984-24C>T (n.2984-24C>T)
c.2987-24C>T (n.2987-24C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180280G=CA2324744310NOTCH3c.3143-24C= (n.3143-24C=)
c.2984-24C= (n.2984-24C=)
c.2987-24C= (n.2987-24C=)
19g.15180280G>TCA9263170NOTCH3c.3143-24C>A (n.3143-24C>A)
c.2984-24C>A (n.2984-24C>A)
c.2987-24C>A (n.2987-24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180281A>GCA2583062896NOTCH3c.3143-25T>C (n.3143-25T>C)
c.2984-25T>C (n.2984-25T>C)
c.2987-25T>C (n.2987-25T>C)
 gnomAD v4
19g.15180282A=CA2324744311NOTCH3c.3143-26T= (n.3143-26T=)
c.2984-26T= (n.2984-26T=)
c.2987-26T= (n.2987-26T=)
19g.15180282A>CCA993900341NOTCH3c.3143-26T>G (n.3143-26T>G)
c.2984-26T>G (n.2984-26T>G)
c.2987-26T>G (n.2987-26T>G)
 dbSNP gnomAD v3 gnomAD v4
19g.15180283_15180284delCA2583062897NOTCH3c.3143-27_3143-26del (n.3143-27_3143-26del)
c.2984-27_2984-26del (n.2984-27_2984-26del)
c.2987-27_2987-26del (n.2987-27_2987-26del)
 gnomAD v4
19g.15180283C=CA2324744312NOTCH3c.3143-27G= (n.3143-27G=)
c.2984-27G= (n.2984-27G=)
c.2987-27G= (n.2987-27G=)
19g.15180283C>TCA9263171NOTCH3c.3143-27G>A (n.3143-27G>A)
c.2984-27G>A (n.2984-27G>A)
c.2987-27G>A (n.2987-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180284A=CA2324744313NOTCH3c.3143-28T= (n.3143-28T=)
c.2984-28T= (n.2984-28T=)
c.2987-28T= (n.2987-28T=)
19g.15180284A>GCA632128165NOTCH3c.3143-28T>C (n.3143-28T>C)
c.2984-28T>C (n.2984-28T>C)
c.2987-28T>C (n.2987-28T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180285G>ACA9263172NOTCH3c.3143-29C>T (n.3143-29C>T)
c.2984-29C>T (n.2984-29C>T)
c.2987-29C>T (n.2987-29C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180285G>CCA9263173NOTCH3c.3143-29C>G (n.3143-29C>G)
c.2984-29C>G (n.2984-29C>G)
c.2987-29C>G (n.2987-29C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180285G=CA2324744314NOTCH3c.3143-29C= (n.3143-29C=)
c.2984-29C= (n.2984-29C=)
c.2987-29C= (n.2987-29C=)
19g.15180285G>TCA2583062898NOTCH3c.3143-29C>A (n.3143-29C>A)
c.2984-29C>A (n.2984-29C>A)
c.2987-29C>A (n.2987-29C>A)
 gnomAD v4
19g.15180287G>ACA2583062899NOTCH3c.3143-31C>T (n.3143-31C>T)
c.2984-31C>T (n.2984-31C>T)
c.2987-31C>T (n.2987-31C>T)
 dbSNP gnomAD v4
19g.15180287G>CCA2583062900NOTCH3c.3143-31C>G (n.3143-31C>G)
c.2984-31C>G (n.2984-31C>G)
c.2987-31C>G (n.2987-31C>G)
 gnomAD v4
19g.15180287G>TCA2583062901NOTCH3c.3143-31C>A (n.3143-31C>A)
c.2984-31C>A (n.2984-31C>A)
c.2987-31C>A (n.2987-31C>A)
 gnomAD v4
19g.15180288G>ACA2581974278NOTCH3c.3143-32C>T (n.3143-32C>T)
c.2984-32C>T (n.2984-32C>T)
c.2987-32C>T (n.2987-32C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180288G>CCA2583062902NOTCH3c.3143-32C>G (n.3143-32C>G)
c.2984-32C>G (n.2984-32C>G)
c.2987-32C>G (n.2987-32C>G)
 dbSNP gnomAD v4
19g.15180288G>TCA2583062903NOTCH3c.3143-32C>A (n.3143-32C>A)
c.2984-32C>A (n.2984-32C>A)
c.2987-32C>A (n.2987-32C>A)
 gnomAD v4
19g.15180289T>CCA9263174NOTCH3c.3143-33A>G (n.3143-33A>G)
c.2984-33A>G (n.2984-33A>G)
c.2987-33A>G (n.2987-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180289T=CA2324744315NOTCH3c.3143-33A= (n.3143-33A=)
c.2984-33A= (n.2984-33A=)
c.2987-33A= (n.2987-33A=)
19g.15180291A>CCA2735795628NOTCH3c.3143-35T>G (n.3143-35T>G)
c.2984-35T>G (n.2984-35T>G)
c.2987-35T>G (n.2987-35T>G)
 dbSNP
19g.15180292C=CA2324744316NOTCH3c.3143-36G= (n.3143-36G=)
c.2984-36G= (n.2984-36G=)
c.2987-36G= (n.2987-36G=)
19g.15180292C>TCA9263175NOTCH3c.3143-36G>A (n.3143-36G>A)
c.2984-36G>A (n.2984-36G>A)
c.2987-36G>A (n.2987-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180293C>ACA783615655NOTCH3c.3143-37G>T (n.3143-37G>T)
c.2984-37G>T (n.2984-37G>T)
c.2987-37G>T (n.2987-37G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.15180293C=CA2324744317NOTCH3c.3143-37G= (n.3143-37G=)
c.2984-37G= (n.2984-37G=)
c.2987-37G= (n.2987-37G=)
19g.15180293C>GCA632128166NOTCH3c.3143-37G>C (n.3143-37G>C)
c.2984-37G>C (n.2984-37G>C)
c.2987-37G>C (n.2987-37G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180293C>TCA9263176NOTCH3c.3143-37G>A (n.3143-37G>A)
c.2984-37G>A (n.2984-37G>A)
c.2987-37G>A (n.2987-37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180294C>ACA2583062904NOTCH3c.3143-38G>T (n.3143-38G>T)
c.2984-38G>T (n.2984-38G>T)
c.2987-38G>T (n.2987-38G>T)
 gnomAD v4
19g.15180295C=CA2324744318NOTCH3c.3143-39G= (n.3143-39G=)
c.2984-39G= (n.2984-39G=)
c.2987-39G= (n.2987-39G=)
19g.15180295C>TCA632128167NOTCH3c.3143-39G>A (n.3143-39G>A)
c.2984-39G>A (n.2984-39G>A)
c.2987-39G>A (n.2987-39G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15180297T>CCA632128168NOTCH3c.3143-41A>G (n.3143-41A>G)
c.2984-41A>G (n.2984-41A>G)
c.2987-41A>G (n.2987-41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180297T=CA2324744319NOTCH3c.3143-41A= (n.3143-41A=)
c.2984-41A= (n.2984-41A=)
c.2987-41A= (n.2987-41A=)
19g.15180299C>ACA2583062905NOTCH3c.3143-43G>T (n.3143-43G>T)
c.2984-43G>T (n.2984-43G>T)
c.2987-43G>T (n.2987-43G>T)
 dbSNP gnomAD v4
19g.15180299C=CA2324744320NOTCH3c.3143-43G= (n.3143-43G=)
c.2984-43G= (n.2984-43G=)
c.2987-43G= (n.2987-43G=)
19g.15180299C>TCA305770097NOTCH3c.3143-43G>A (n.3143-43G>A)
c.2984-43G>A (n.2984-43G>A)
c.2987-43G>A (n.2987-43G>A)
 dbSNP gnomAD v4
19g.15180300A>CCA2583062906NOTCH3c.3143-44T>G (n.3143-44T>G)
c.2984-44T>G (n.2984-44T>G)
c.2987-44T>G (n.2987-44T>G)
 gnomAD v4
19g.15180301T>ACA2813714776NOTCH3c.3143-45A>T (n.3143-45A>T)
c.2984-45A>T (n.2984-45A>T)
c.2987-45A>T (n.2987-45A>T)
19g.15180301T>CCA2583062907NOTCH3c.3143-45A>G (n.3143-45A>G)
c.2984-45A>G (n.2984-45A>G)
c.2987-45A>G (n.2987-45A>G)
 dbSNP gnomAD v4
19g.15180302C>ACA2583062908NOTCH3c.3143-46G>T (n.3143-46G>T)
c.2984-46G>T (n.2984-46G>T)
c.2987-46G>T (n.2987-46G>T)
 gnomAD v4
19g.15180302C=CA2324744321NOTCH3c.3143-46G= (n.3143-46G=)
c.2984-46G= (n.2984-46G=)
c.2987-46G= (n.2987-46G=)
19g.15180302C>GCA9263177NOTCH3c.3143-46G>C (n.3143-46G>C)
c.2984-46G>C (n.2984-46G>C)
c.2987-46G>C (n.2987-46G>C)
 dbSNP ExAC gnomAD v2
19g.15180302C>TCA632128169NOTCH3c.3143-46G>A (n.3143-46G>A)
c.2984-46G>A (n.2984-46G>A)
c.2987-46G>A (n.2987-46G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180303C=CA2324744322NOTCH3c.3143-47G= (n.3143-47G=)
c.2984-47G= (n.2984-47G=)
c.2987-47G= (n.2987-47G=)
19g.15180303C>TCA783615672NOTCH3c.3143-47G>A (n.3143-47G>A)
c.2984-47G>A (n.2984-47G>A)
c.2987-47G>A (n.2987-47G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.15180304C>ACA2735795647NOTCH3c.3143-48G>T (n.3143-48G>T)
c.2984-48G>T (n.2984-48G>T)
c.2987-48G>T (n.2987-48G>T)
 dbSNP
19g.15180304C>TCA2735795645NOTCH3c.3143-48G>A (n.3143-48G>A)
c.2984-48G>A (n.2984-48G>A)
c.2987-48G>A (n.2987-48G>A)
 dbSNP
19g.15180305C=CA2324744323NOTCH3c.3143-49G= (n.3143-49G=)
c.2984-49G= (n.2984-49G=)
c.2987-49G= (n.2987-49G=)
19g.15180305C>TCA993900362NOTCH3c.3143-49G>A (n.3143-49G>A)
c.2984-49G>A (n.2984-49G>A)
c.2987-49G>A (n.2987-49G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.15180306C>ACA2583062909NOTCH3c.3143-50G>T (n.3143-50G>T)
c.2984-50G>T (n.2984-50G>T)
c.2987-50G>T (n.2987-50G>T)
 gnomAD v4
19g.15180307T>ACA2576654458NOTCH3c.3143-51A>T (n.3143-51A>T)
c.2984-51A>T (n.2984-51A>T)
c.2987-51A>T (n.2987-51A>T)
19g.15180307T>CCA2583062910NOTCH3c.3143-51A>G (n.3143-51A>G)
c.2984-51A>G (n.2984-51A>G)
c.2987-51A>G (n.2987-51A>G)
 gnomAD v4
19g.15180309C>ACA2583062911NOTCH3c.3143-53G>T (n.3143-53G>T)
c.2984-53G>T (n.2984-53G>T)
c.2987-53G>T (n.2987-53G>T)
 gnomAD v4
19g.15180309C>TCA2583062912NOTCH3c.3143-53G>A (n.3143-53G>A)
c.2984-53G>A (n.2984-53G>A)
c.2987-53G>A (n.2987-53G>A)
 gnomAD v4
19g.15180311G>ACA2581974279NOTCH3c.3143-55C>T (n.3143-55C>T)
c.2984-55C>T (n.2984-55C>T)
c.2987-55C>T (n.2987-55C>T)
 gnomAD v3 gnomAD v4
19g.15180311G>CCA2735795649NOTCH3c.3143-55C>G (n.3143-55C>G)
c.2984-55C>G (n.2984-55C>G)
c.2987-55C>G (n.2987-55C>G)
 dbSNP
19g.15180311G>TCA2576654459NOTCH3c.3143-55C>A (n.3143-55C>A)
c.2984-55C>A (n.2984-55C>A)
c.2987-55C>A (n.2987-55C>A)
 gnomAD v4
19g.15180312C>TCA2583062913NOTCH3c.3143-56G>A (n.3143-56G>A)
c.2984-56G>A (n.2984-56G>A)
c.2987-56G>A (n.2987-56G>A)
 gnomAD v4
19g.15180313C>TCA2735795652NOTCH3c.3143-57G>A (n.3143-57G>A)
c.2984-57G>A (n.2984-57G>A)
c.2987-57G>A (n.2987-57G>A)
 dbSNP
19g.15180315C>ACA2583062914NOTCH3c.3143-59G>T (n.3143-59G>T)
c.2984-59G>T (n.2984-59G>T)
c.2987-59G>T (n.2987-59G>T)
 gnomAD v4
19g.15180317_15180318insAACAAAAACCCAAACACACCCACA2813714777NOTCH3c.3143-59_3143-58insGTGTGTTTGGGTTTTTGTTTGG (n.3143-59_3143-58insGTGTGTTTGGGTTTTTGTTTGG)
c.2984-59_2984-58insGTGTGTTTGGGTTTTTGTTTGG (n.2984-59_2984-58insGTGTGTTTGGGTTTTTGTTTGG)
c.2987-59_2987-58insGTGTGTTTGGGTTTTTGTTTGG (n.2987-59_2987-58insGTGTGTTTGGGTTTTTGTTTGG)
19g.15180318T>ACA2813714778NOTCH3c.3143-62A>T (n.3143-62A>T)
c.2984-62A>T (n.2984-62A>T)
c.2987-62A>T (n.2987-62A>T)
19g.15180318T>CCA783615677NOTCH3c.3143-62A>G (n.3143-62A>G)
c.2984-62A>G (n.2984-62A>G)
c.2987-62A>G (n.2987-62A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.15180318T>GCA305770101NOTCH3c.3143-62A>C (n.3143-62A>C)
c.2984-62A>C (n.2984-62A>C)
c.2987-62A>C (n.2987-62A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15180318T=CA2324744324NOTCH3c.3143-62A= (n.3143-62A=)
c.2984-62A= (n.2984-62A=)
c.2987-62A= (n.2987-62A=)

Number of alleles fetched