Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15180226C>A | CA9263161 | NOTCH3 | c.3173G>T (p.Gly1058Val) c.3014G>T (p.Gly1005Val) c.3017G>T (p.Gly1006Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180226C= | CA2324744294 | NOTCH3 | c.3173G= (p.Gly1058=) c.3014G= (p.Gly1005=) c.3017G= (p.Gly1006=) | |
19 | g.15180226C>G | CA404513882 | NOTCH3 | c.3173G>C (p.Gly1058Ala) c.3014G>C (p.Gly1005Ala) c.3017G>C (p.Gly1006Ala) | |
19 | g.15180226C>T | CA404513884 | NOTCH3 | c.3173G>A (p.Gly1058Asp) c.3014G>A (p.Gly1005Asp) c.3017G>A (p.Gly1006Asp) | |
19 | g.15180227C>A | CA404513887 | NOTCH3 | c.3172G>T (p.Gly1058Cys) c.3013G>T (p.Gly1005Cys) c.3016G>T (p.Gly1006Cys) | ClinVar |
19 | g.15180227C>G | CA404513890 | NOTCH3 | c.3172G>C (p.Gly1058Arg) c.3013G>C (p.Gly1005Arg) c.3016G>C (p.Gly1006Arg) | |
19 | g.15180227C>T | CA404513892 | NOTCH3 | c.3172G>A (p.Gly1058Ser) c.3013G>A (p.Gly1005Ser) c.3016G>A (p.Gly1006Ser) | gnomAD v4 |
19 | g.15180229_15180231del | CA2583062883 | NOTCH3 | c.3170_3172del (p.Ala1057del) c.3011_3013del (p.Ala1004del) c.3014_3016del (p.Ala1005del) | gnomAD v4 |
19 | g.15180228C>A | CA505824434 | NOTCH3 | c.3171G>T (p.Ala1057=) c.3012G>T (p.Ala1004=) c.3015G>T (p.Ala1005=) | |
19 | g.15180228C= | CA2324744295 | NOTCH3 | c.3171G= (p.Ala1057=) c.3012G= (p.Ala1004=) c.3015G= (p.Ala1005=) | |
19 | g.15180228C>G | CA9263162 | NOTCH3 | c.3171G>C (p.Ala1057=) c.3012G>C (p.Ala1004=) c.3015G>C (p.Ala1005=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180228C>T | CA505824437 | NOTCH3 | c.3171G>A (p.Ala1057=) c.3012G>A (p.Ala1004=) c.3015G>A (p.Ala1005=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180229G>A | CA9263163 | NOTCH3 | c.3170C>T (p.Ala1057Val) c.3011C>T (p.Ala1004Val) c.3014C>T (p.Ala1005Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180229G>C | CA404513894 | NOTCH3 | c.3170C>G (p.Ala1057Gly) c.3011C>G (p.Ala1004Gly) c.3014C>G (p.Ala1005Gly) | dbSNP |
19 | g.15180229G= | CA2324744296 | NOTCH3 | c.3170C= (p.Ala1057=) c.3011C= (p.Ala1004=) c.3014C= (p.Ala1005=) | |
19 | g.15180229G>T | CA404513896 | NOTCH3 | c.3170C>A (p.Ala1057Glu) c.3011C>A (p.Ala1004Glu) c.3014C>A (p.Ala1005Glu) | |
19 | g.15180230C>A | CA404513901 | NOTCH3 | c.3169G>T (p.Ala1057Ser) c.3010G>T (p.Ala1004Ser) c.3013G>T (p.Ala1005Ser) | |
19 | g.15180230C>G | CA404513898 | NOTCH3 | c.3169G>C (p.Ala1057Pro) c.3010G>C (p.Ala1004Pro) c.3013G>C (p.Ala1005Pro) | |
19 | g.15180230C>T | CA404513900 | NOTCH3 | c.3169G>A (p.Ala1057Thr) c.3010G>A (p.Ala1004Thr) c.3013G>A (p.Ala1005Thr) | dbSNP gnomAD v4 |
19 | g.15180231C>A | CA404513903 | NOTCH3 | c.3168G>T (p.Gln1056His) c.3009G>T (p.Gln1003His) c.3012G>T (p.Gln1004His) | |
19 | g.15180231C>G | CA404513904 | NOTCH3 | c.3168G>C (p.Gln1056His) c.3009G>C (p.Gln1003His) c.3012G>C (p.Gln1004His) | COSMIC COSMIC |
19 | g.15180231C>T | CA505824461 | NOTCH3 | c.3168G>A (p.Gln1056=) c.3009G>A (p.Gln1003=) c.3012G>A (p.Gln1004=) | |
19 | g.15180231_15180247dup | CA2583062884 | NOTCH3 | c.3152_3168dup (p.Ala1057TrpfsTer?) c.2993_3009dup (p.Ala1004TrpfsTer?) c.2996_3012dup (p.Ala1005TrpfsTer?) | gnomAD v4 |
19 | g.15180232T>A | CA404513906 | NOTCH3 | c.3167A>T (p.Gln1056Leu) c.3008A>T (p.Gln1003Leu) c.3011A>T (p.Gln1004Leu) | |
19 | g.15180232T>C | CA404513908 | NOTCH3 | c.3167A>G (p.Gln1056Arg) c.3008A>G (p.Gln1003Arg) c.3011A>G (p.Gln1004Arg) | |
19 | g.15180232T>G | CA404513909 | NOTCH3 | c.3167A>C (p.Gln1056Pro) c.3008A>C (p.Gln1003Pro) c.3011A>C (p.Gln1004Pro) | |
19 | g.15180233G>A | CA404513910 | NOTCH3 | c.3166C>T (p.Gln1056Ter) c.3007C>T (p.Gln1003Ter) c.3010C>T (p.Gln1004Ter) | |
19 | g.15180233G>C | CA404513911 | NOTCH3 | c.3166C>G (p.Gln1056Glu) c.3007C>G (p.Gln1003Glu) c.3010C>G (p.Gln1004Glu) | |
19 | g.15180233G>T | CA404513913 | NOTCH3 | c.3166C>A (p.Gln1056Lys) c.3007C>A (p.Gln1003Lys) c.3010C>A (p.Gln1004Lys) | |
19 | g.15180234A>C | CA404513915 | NOTCH3 | c.3165T>G (p.Cys1055Trp) c.3006T>G (p.Cys1002Trp) c.3009T>G (p.Cys1003Trp) | |
19 | g.15180234A>G | CA505824481 | NOTCH3 | c.3165T>C (p.Cys1055=) c.3006T>C (p.Cys1002=) c.3009T>C (p.Cys1003=) | dbSNP gnomAD v4 |
19 | g.15180234A>T | CA404513916 | NOTCH3 | c.3165T>A (p.Cys1055Ter) c.3006T>A (p.Cys1002Ter) c.3009T>A (p.Cys1003Ter) | |
19 | g.15180235C>A | CA404513918 | NOTCH3 | c.3164G>T (p.Cys1055Phe) c.3005G>T (p.Cys1002Phe) c.3008G>T (p.Cys1003Phe) | |
19 | g.15180235C>G | CA404513920 | NOTCH3 | c.3164G>C (p.Cys1055Ser) c.3005G>C (p.Cys1002Ser) c.3008G>C (p.Cys1003Ser) | |
19 | g.15180235C>T | CA404513917 | NOTCH3 | c.3164G>A (p.Cys1055Tyr) c.3005G>A (p.Cys1002Tyr) c.3008G>A (p.Cys1003Tyr) | gnomAD v4 |
19 | g.15180236A>C | CA404513921 | NOTCH3 | c.3163T>G (p.Cys1055Gly) c.3004T>G (p.Cys1002Gly) c.3007T>G (p.Cys1003Gly) | |
19 | g.15180236A>G | CA404513923 | NOTCH3 | c.3163T>C (p.Cys1055Arg) c.3004T>C (p.Cys1002Arg) c.3007T>C (p.Cys1003Arg) | |
19 | g.15180236A>T | CA404513925 | NOTCH3 | c.3163T>A (p.Cys1055Ser) c.3004T>A (p.Cys1002Ser) c.3007T>A (p.Cys1003Ser) | |
19 | g.15180237C>A | CA505824504 | NOTCH3 | c.3162G>T (p.Leu1054=) c.3003G>T (p.Leu1001=) c.3006G>T (p.Leu1002=) | dbSNP |
19 | g.15180237C= | CA2324744297 | NOTCH3 | c.3162G= (p.Leu1054=) c.3003G= (p.Leu1001=) c.3006G= (p.Leu1002=) | |
19 | g.15180237C>G | CA505824507 | NOTCH3 | c.3162G>C (p.Leu1054=) c.3003G>C (p.Leu1001=) c.3006G>C (p.Leu1002=) | gnomAD v4 |
19 | g.15180237C>T | CA505824511 | NOTCH3 | c.3162G>A (p.Leu1054=) c.3003G>A (p.Leu1001=) c.3006G>A (p.Leu1002=) | |
19 | g.15180238A>C | CA404513926 | NOTCH3 | c.3161T>G (p.Leu1054Arg) c.3002T>G (p.Leu1001Arg) c.3005T>G (p.Leu1002Arg) | COSMIC |
19 | g.15180238A>G | CA404513927 | NOTCH3 | c.3161T>C (p.Leu1054Pro) c.3002T>C (p.Leu1001Pro) c.3005T>C (p.Leu1002Pro) | |
19 | g.15180238A>T | CA404513929 | NOTCH3 | c.3161T>A (p.Leu1054Gln) c.3002T>A (p.Leu1001Gln) c.3005T>A (p.Leu1002Gln) | |
19 | g.15180239G>A | CA505824526 | NOTCH3 | c.3160C>T (p.Leu1054=) c.3001C>T (p.Leu1001=) c.3004C>T (p.Leu1002=) | dbSNP gnomAD v4 |
19 | g.15180239G>C | CA404513930 | NOTCH3 | c.3160C>G (p.Leu1054Val) c.3001C>G (p.Leu1001Val) c.3004C>G (p.Leu1002Val) | |
19 | g.15180239G= | CA2324744298 | NOTCH3 | c.3160C= (p.Leu1054=) c.3001C= (p.Leu1001=) c.3004C= (p.Leu1002=) | |
19 | g.15180239G>T | CA404513931 | NOTCH3 | c.3160C>A (p.Leu1054Met) c.3001C>A (p.Leu1001Met) c.3004C>A (p.Leu1002Met) | gnomAD v4 |
19 | g.15180240C>A | CA404513932 | NOTCH3 | c.3159G>T (p.Gln1053His) c.3000G>T (p.Gln1000His) c.3003G>T (p.Gln1001His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180240C= | CA2324744299 | NOTCH3 | c.3159G= (p.Gln1053=) c.3000G= (p.Gln1000=) c.3003G= (p.Gln1001=) | |
19 | g.15180240C>G | CA404513933 | NOTCH3 | c.3159G>C (p.Gln1053His) c.3000G>C (p.Gln1000His) c.3003G>C (p.Gln1001His) | |
19 | g.15180240C>T | CA505824536 | NOTCH3 | c.3159G>A (p.Gln1053=) c.3000G>A (p.Gln1000=) c.3003G>A (p.Gln1001=) | dbSNP |
19 | g.15180241T>A | CA404513935 | NOTCH3 | c.3158A>T (p.Gln1053Leu) c.2999A>T (p.Gln1000Leu) c.3002A>T (p.Gln1001Leu) | |
19 | g.15180241T>C | CA404513937 | NOTCH3 | c.3158A>G (p.Gln1053Arg) c.2999A>G (p.Gln1000Arg) c.3002A>G (p.Gln1001Arg) | |
19 | g.15180241T>G | CA404513938 | NOTCH3 | c.3158A>C (p.Gln1053Pro) c.2999A>C (p.Gln1000Pro) c.3002A>C (p.Gln1001Pro) | |
19 | g.15180242G>A | CA404513941 | NOTCH3 | c.3157C>T (p.Gln1053Ter) c.2998C>T (p.Gln1000Ter) c.3001C>T (p.Gln1001Ter) | dbSNP gnomAD v4 |
19 | g.15180242G>C | CA404513940 | NOTCH3 | c.3157C>G (p.Gln1053Glu) c.2998C>G (p.Gln1000Glu) c.3001C>G (p.Gln1001Glu) | |
19 | g.15180242G>T | CA404513939 | NOTCH3 | c.3157C>A (p.Gln1053Lys) c.2998C>A (p.Gln1000Lys) c.3001C>A (p.Gln1001Lys) | |
19 | g.15180243C>A | CA404513942 | NOTCH3 | c.3156G>T (p.Glu1052Asp) c.2997G>T (p.Glu999Asp) c.3000G>T (p.Glu1000Asp) | |
19 | g.15180243C= | CA2324744300 | NOTCH3 | c.3156G= (p.Glu1052=) c.2997G= (p.Glu999=) c.3000G= (p.Glu1000=) | |
19 | g.15180243C>G | CA404513943 | NOTCH3 | c.3156G>C (p.Glu1052Asp) c.2997G>C (p.Glu999Asp) c.3000G>C (p.Glu1000Asp) | |
19 | g.15180243C>T | CA505824567 | NOTCH3 | c.3156G>A (p.Glu1052=) c.2997G>A (p.Glu999=) c.3000G>A (p.Glu1000=) | dbSNP gnomAD v4 |
19 | g.15180244T>A | CA404513944 | NOTCH3 | c.3155A>T (p.Glu1052Val) c.2996A>T (p.Glu999Val) c.2999A>T (p.Glu1000Val) | |
19 | g.15180244T>C | CA9263164 | NOTCH3 | c.3155A>G (p.Glu1052Gly) c.2996A>G (p.Glu999Gly) c.2999A>G (p.Glu1000Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180244T>G | CA404513946 | NOTCH3 | c.3155A>C (p.Glu1052Ala) c.2996A>C (p.Glu999Ala) c.2999A>C (p.Glu1000Ala) | |
19 | g.15180244T= | CA2324744301 | NOTCH3 | c.3155A= (p.Glu1052=) c.2996A= (p.Glu999=) c.2999A= (p.Glu1000=) | |
19 | g.15180245C>A | CA404513947 | NOTCH3 | c.3154G>T (p.Glu1052Ter) c.2995G>T (p.Glu999Ter) c.2998G>T (p.Glu1000Ter) | |
19 | g.15180245C>G | CA404513949 | NOTCH3 | c.3154G>C (p.Glu1052Gln) c.2995G>C (p.Glu999Gln) c.2998G>C (p.Glu1000Gln) | dbSNP |
19 | g.15180245C>T | CA404513950 | NOTCH3 | c.3154G>A (p.Glu1052Lys) c.2995G>A (p.Glu999Lys) c.2998G>A (p.Glu1000Lys) | |
19 | g.15180246C>A | CA505824586 | NOTCH3 | c.3153G>T (p.Leu1051=) c.2994G>T (p.Leu998=) c.2997G>T (p.Leu999=) | |
19 | g.15180246C>G | CA505824595 | NOTCH3 | c.3153G>C (p.Leu1051=) c.2994G>C (p.Leu998=) c.2997G>C (p.Leu999=) | |
19 | g.15180246C>T | CA505824596 | NOTCH3 | c.3153G>A (p.Leu1051=) c.2994G>A (p.Leu998=) c.2997G>A (p.Leu999=) | |
19 | g.15180247A>C | CA404513951 | NOTCH3 | c.3152T>G (p.Leu1051Arg) c.2993T>G (p.Leu998Arg) c.2996T>G (p.Leu999Arg) | |
19 | g.15180247A>G | CA404513953 | NOTCH3 | c.3152T>C (p.Leu1051Pro) c.2993T>C (p.Leu998Pro) c.2996T>C (p.Leu999Pro) | |
19 | g.15180247A>T | CA404513954 | NOTCH3 | c.3152T>A (p.Leu1051Gln) c.2993T>A (p.Leu998Gln) c.2996T>A (p.Leu999Gln) | |
19 | g.15180248G>A | CA505824599 | NOTCH3 | c.3151C>T (p.Leu1051=) c.2992C>T (p.Leu998=) c.2995C>T (p.Leu999=) | |
19 | g.15180248G>C | CA404513956 | NOTCH3 | c.3151C>G (p.Leu1051Val) c.2992C>G (p.Leu998Val) c.2995C>G (p.Leu999Val) | |
19 | g.15180248G>T | CA404513957 | NOTCH3 | c.3151C>A (p.Leu1051Met) c.2992C>A (p.Leu998Met) c.2995C>A (p.Leu999Met) | gnomAD v4 |
19 | g.15180249C>A | CA505824619 | NOTCH3 | c.3150G>T (p.Arg1050=) c.2991G>T (p.Arg997=) c.2994G>T (p.Arg998=) | COSMIC COSMIC |
19 | g.15180249C>G | CA505824622 | NOTCH3 | c.3150G>C (p.Arg1050=) c.2991G>C (p.Arg997=) c.2994G>C (p.Arg998=) | |
19 | g.15180249C>T | CA505824615 | NOTCH3 | c.3150G>A (p.Arg1050=) c.2991G>A (p.Arg997=) c.2994G>A (p.Arg998=) | dbSNP |
19 | g.15180250C>A | CA404513960 | NOTCH3 | c.3149G>T (p.Arg1050Leu) c.2990G>T (p.Arg997Leu) c.2993G>T (p.Arg998Leu) | COSMIC COSMIC |
19 | g.15180250C= | CA2324744302 | NOTCH3 | c.3149G= (p.Arg1050=) c.2990G= (p.Arg997=) c.2993G= (p.Arg998=) | |
19 | g.15180250C>G | CA404513961 | NOTCH3 | c.3149G>C (p.Arg1050Pro) c.2990G>C (p.Arg997Pro) c.2993G>C (p.Arg998Pro) | |
19 | g.15180250C>T | CA9263165 | NOTCH3 | c.3149G>A (p.Arg1050Gln) c.2990G>A (p.Arg997Gln) c.2993G>A (p.Arg998Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180251G>A | CA9263166 | NOTCH3 | c.3148C>T (p.Arg1050Trp) c.2989C>T (p.Arg997Trp) c.2992C>T (p.Arg998Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180251G>C | CA404513963 | NOTCH3 | c.3148C>G (p.Arg1050Gly) c.2989C>G (p.Arg997Gly) c.2992C>G (p.Arg998Gly) | |
19 | g.15180251G= | CA2324744303 | NOTCH3 | c.3148C= (p.Arg1050=) c.2989C= (p.Arg997=) c.2992C= (p.Arg998=) | |
19 | g.15180251G>T | CA9263167 | NOTCH3 | c.3148C>A (p.Arg1050=) c.2989C>A (p.Arg997=) c.2992C>A (p.Arg998=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180252C>A | CA505824650 | NOTCH3 | c.3147G>T (p.Val1049=) c.2988G>T (p.Val996=) c.2991G>T (p.Val997=) | |
19 | g.15180252C>G | CA505824646 | NOTCH3 | c.3147G>C (p.Val1049=) c.2988G>C (p.Val996=) c.2991G>C (p.Val997=) | |
19 | g.15180252C>T | CA505824643 | NOTCH3 | c.3147G>A (p.Val1049=) c.2988G>A (p.Val996=) c.2991G>A (p.Val997=) | |
19 | g.15180253A>C | CA404513965 | NOTCH3 | c.3146T>G (p.Val1049Gly) c.2987T>G (p.Val996Gly) c.2990T>G (p.Val997Gly) | dbSNP |
19 | g.15180253A>G | CA404513966 | NOTCH3 | c.3146T>C (p.Val1049Ala) c.2987T>C (p.Val996Ala) c.2990T>C (p.Val997Ala) | |
19 | g.15180253A>T | CA404513967 | NOTCH3 | c.3146T>A (p.Val1049Glu) c.2987T>A (p.Val996Glu) c.2990T>A (p.Val997Glu) | |
19 | g.15180254C>A | CA404513970 | NOTCH3 | c.3145G>T (p.Val1049Leu) c.2986G>T (p.Val996Leu) c.2989G>T (p.Val997Leu) | |
19 | g.15180254C>G | CA404513969 | NOTCH3 | c.3145G>C (p.Val1049Leu) c.2986G>C (p.Val996Leu) c.2989G>C (p.Val997Leu) | |
19 | g.15180254C>T | CA404513968 | NOTCH3 | c.3145G>A (p.Val1049Met) c.2986G>A (p.Val996Met) c.2989G>A (p.Val997Met) | |
19 | g.15180255C>A | CA505824671 | NOTCH3 | c.3144G>T (p.Gly1048=) c.2985G>T (p.Gly995=) c.2988G>T (p.Gly996=) | |
19 | g.15180255C>G | CA505824676 | NOTCH3 | c.3144G>C (p.Gly1048=) c.2985G>C (p.Gly995=) c.2988G>C (p.Gly996=) | dbSNP |
19 | g.15180255C>T | CA505824674 | NOTCH3 | c.3144G>A (p.Gly1048=) c.2985G>A (p.Gly995=) c.2988G>A (p.Gly996=) | |
19 | g.15180256C>A | CA404513971 | NOTCH3 | c.3143G>T (p.Gly1048Val) c.2984G>T (p.Gly995Val) c.2987G>T (p.Gly996Val) | dbSNP |
19 | g.15180256C>G | CA404513972 | NOTCH3 | c.3143G>C (p.Gly1048Ala) c.2984G>C (p.Gly995Ala) c.2987G>C (p.Gly996Ala) | dbSNP |
19 | g.15180256C>T | CA404513973 | NOTCH3 | c.3143G>A (p.Gly1048Glu) c.2984G>A (p.Gly995Glu) c.2987G>A (p.Gly996Glu) | |
19 | g.15180257C>A | CA404513974 | NOTCH3 | c.3143-1G>T (n.3143-1G>T) c.2984-1G>T (n.2984-1G>T) c.2987-1G>T (n.2987-1G>T) | |
19 | g.15180257C>G | CA404513975 | NOTCH3 | c.3143-1G>C (n.3143-1G>C) c.2984-1G>C (n.2984-1G>C) c.2987-1G>C (n.2987-1G>C) | |
19 | g.15180257C>T | CA404513976 | NOTCH3 | c.3143-1G>A (n.3143-1G>A) c.2984-1G>A (n.2984-1G>A) c.2987-1G>A (n.2987-1G>A) | |
19 | g.15180258T>A | CA404513978 | NOTCH3 | c.3143-2A>T (n.3143-2A>T) c.2984-2A>T (n.2984-2A>T) c.2987-2A>T (n.2987-2A>T) | |
19 | g.15180258T>C | CA404513981 | NOTCH3 | c.3143-2A>G (n.3143-2A>G) c.2984-2A>G (n.2984-2A>G) c.2987-2A>G (n.2987-2A>G) | |
19 | g.15180258T>G | CA404513979 | NOTCH3 | c.3143-2A>C (n.3143-2A>C) c.2984-2A>C (n.2984-2A>C) c.2987-2A>C (n.2987-2A>C) | |
19 | g.15180259G>A | CA2583062885 | NOTCH3 | c.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 |
19 | g.15180259G>T | CA645600799 | NOTCH3 | c.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 |
19 | g.15180260C>A | CA9263168 | NOTCH3 | c.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 |
19 | g.15180260C= | CA2324744304 | NOTCH3 | c.3143-4G= (n.3143-4G=) c.2984-4G= (n.2984-4G=) c.2987-4G= (n.2987-4G=) | |
19 | g.15180260C>G | CA2583062887 | NOTCH3 | c.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 |
19 | g.15180260C>T | CA2583062886 | NOTCH3 | c.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 |
19 | g.15180261A>G | CA2583062888 | NOTCH3 | c.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 |
19 | g.15180263A>G | CA2580096646 | NOTCH3 | c.3143-7T>C (n.3143-7T>C) c.2984-7T>C (n.2984-7T>C) c.2987-7T>C (n.2987-7T>C) | ClinVar |
19 | g.15180263_15180266delinsAGAG | CA2324744305 | NOTCH3 | c.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) | |
19 | g.15180264G>C | CA2735795559 | NOTCH3 | c.3143-8C>G (n.3143-8C>G) c.2984-8C>G (n.2984-8C>G) c.2987-8C>G (n.2987-8C>G) | dbSNP |
19 | g.15180267_15180269del | CA783615642 | NOTCH3 | c.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 |
19 | g.15180265A= | CA2324744306 | NOTCH3 | c.3143-9T= (n.3143-9T=) c.2984-9T= (n.2984-9T=) c.2987-9T= (n.2987-9T=) | |
19 | g.15180265A>G | CA632128163 | NOTCH3 | c.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 |
19 | g.15180265A>T | CA2583062889 | NOTCH3 | c.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 |
19 | g.15180266G>A | CA2583062890 | NOTCH3 | c.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 |
19 | g.15180266G>C | CA2583062891 | NOTCH3 | c.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 |
19 | g.15180267G>A | CA2583062892 | NOTCH3 | c.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 |
19 | g.15180267G>C | CA2576654455 | NOTCH3 | c.3143-11C>G (n.3143-11C>G) c.2984-11C>G (n.2984-11C>G) c.2987-11C>G (n.2987-11C>G) | |
19 | g.15180269G>C | CA632128164 | NOTCH3 | c.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 |
19 | g.15180269G= | CA2324744307 | NOTCH3 | c.3143-13C= (n.3143-13C=) c.2984-13C= (n.2984-13C=) c.2987-13C= (n.2987-13C=) | |
19 | g.15180274G>A | CA9263169 | NOTCH3 | c.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 |
19 | g.15180274G>C | CA2576654456 | NOTCH3 | c.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 |
19 | g.15180274G= | CA2324744308 | NOTCH3 | c.3143-18C= (n.3143-18C=) c.2984-18C= (n.2984-18C=) c.2987-18C= (n.2987-18C=) | |
19 | g.15180275C>A | CA2813714775 | NOTCH3 | c.3143-19G>T (n.3143-19G>T) c.2984-19G>T (n.2984-19G>T) c.2987-19G>T (n.2987-19G>T) | |
19 | g.15180277C>G | CA2583062893 | NOTCH3 | c.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 |
19 | g.15180277C>T | CA2583062894 | NOTCH3 | c.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 |
19 | g.15180279G>A | CA993900338 | NOTCH3 | c.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 |
19 | g.15180279G= | CA2324744309 | NOTCH3 | c.3143-23C= (n.3143-23C=) c.2984-23C= (n.2984-23C=) c.2987-23C= (n.2987-23C=) | |
19 | g.15180279G>T | CA2583062895 | NOTCH3 | c.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 |
19 | g.15180280G>A | CA2576654457 | NOTCH3 | c.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 |
19 | g.15180280G= | CA2324744310 | NOTCH3 | c.3143-24C= (n.3143-24C=) c.2984-24C= (n.2984-24C=) c.2987-24C= (n.2987-24C=) | |
19 | g.15180280G>T | CA9263170 | NOTCH3 | c.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 |
19 | g.15180281A>G | CA2583062896 | NOTCH3 | c.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 |
19 | g.15180282A= | CA2324744311 | NOTCH3 | c.3143-26T= (n.3143-26T=) c.2984-26T= (n.2984-26T=) c.2987-26T= (n.2987-26T=) | |
19 | g.15180282A>C | CA993900341 | NOTCH3 | c.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 |
19 | g.15180283_15180284del | CA2583062897 | NOTCH3 | c.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 |
19 | g.15180283C= | CA2324744312 | NOTCH3 | c.3143-27G= (n.3143-27G=) c.2984-27G= (n.2984-27G=) c.2987-27G= (n.2987-27G=) | |
19 | g.15180283C>T | CA9263171 | NOTCH3 | c.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 |
19 | g.15180284A= | CA2324744313 | NOTCH3 | c.3143-28T= (n.3143-28T=) c.2984-28T= (n.2984-28T=) c.2987-28T= (n.2987-28T=) | |
19 | g.15180284A>G | CA632128165 | NOTCH3 | c.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 |
19 | g.15180285G>A | CA9263172 | NOTCH3 | c.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 |
19 | g.15180285G>C | CA9263173 | NOTCH3 | c.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 |
19 | g.15180285G= | CA2324744314 | NOTCH3 | c.3143-29C= (n.3143-29C=) c.2984-29C= (n.2984-29C=) c.2987-29C= (n.2987-29C=) | |
19 | g.15180285G>T | CA2583062898 | NOTCH3 | c.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 |
19 | g.15180287G>A | CA2583062899 | NOTCH3 | c.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 |
19 | g.15180287G>C | CA2583062900 | NOTCH3 | c.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 |
19 | g.15180287G>T | CA2583062901 | NOTCH3 | c.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 |
19 | g.15180288G>A | CA2581974278 | NOTCH3 | c.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 |
19 | g.15180288G>C | CA2583062902 | NOTCH3 | c.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 |
19 | g.15180288G>T | CA2583062903 | NOTCH3 | c.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 |
19 | g.15180289T>C | CA9263174 | NOTCH3 | c.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 |
19 | g.15180289T= | CA2324744315 | NOTCH3 | c.3143-33A= (n.3143-33A=) c.2984-33A= (n.2984-33A=) c.2987-33A= (n.2987-33A=) | |
19 | g.15180291A>C | CA2735795628 | NOTCH3 | c.3143-35T>G (n.3143-35T>G) c.2984-35T>G (n.2984-35T>G) c.2987-35T>G (n.2987-35T>G) | dbSNP |
19 | g.15180292C= | CA2324744316 | NOTCH3 | c.3143-36G= (n.3143-36G=) c.2984-36G= (n.2984-36G=) c.2987-36G= (n.2987-36G=) | |
19 | g.15180292C>T | CA9263175 | NOTCH3 | c.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 |
19 | g.15180293C>A | CA783615655 | NOTCH3 | c.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 |
19 | g.15180293C= | CA2324744317 | NOTCH3 | c.3143-37G= (n.3143-37G=) c.2984-37G= (n.2984-37G=) c.2987-37G= (n.2987-37G=) | |
19 | g.15180293C>G | CA632128166 | NOTCH3 | c.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 |
19 | g.15180293C>T | CA9263176 | NOTCH3 | c.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 |
19 | g.15180294C>A | CA2583062904 | NOTCH3 | c.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 |
19 | g.15180295C= | CA2324744318 | NOTCH3 | c.3143-39G= (n.3143-39G=) c.2984-39G= (n.2984-39G=) c.2987-39G= (n.2987-39G=) | |
19 | g.15180295C>T | CA632128167 | NOTCH3 | c.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 |
19 | g.15180297T>C | CA632128168 | NOTCH3 | c.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 |
19 | g.15180297T= | CA2324744319 | NOTCH3 | c.3143-41A= (n.3143-41A=) c.2984-41A= (n.2984-41A=) c.2987-41A= (n.2987-41A=) | |
19 | g.15180299C>A | CA2583062905 | NOTCH3 | c.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 |
19 | g.15180299C= | CA2324744320 | NOTCH3 | c.3143-43G= (n.3143-43G=) c.2984-43G= (n.2984-43G=) c.2987-43G= (n.2987-43G=) | |
19 | g.15180299C>T | CA305770097 | NOTCH3 | c.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 |
19 | g.15180300A>C | CA2583062906 | NOTCH3 | c.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 |
19 | g.15180301T>A | CA2813714776 | NOTCH3 | c.3143-45A>T (n.3143-45A>T) c.2984-45A>T (n.2984-45A>T) c.2987-45A>T (n.2987-45A>T) | |
19 | g.15180301T>C | CA2583062907 | NOTCH3 | c.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 |
19 | g.15180302C>A | CA2583062908 | NOTCH3 | c.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 |
19 | g.15180302C= | CA2324744321 | NOTCH3 | c.3143-46G= (n.3143-46G=) c.2984-46G= (n.2984-46G=) c.2987-46G= (n.2987-46G=) | |
19 | g.15180302C>G | CA9263177 | NOTCH3 | c.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 |
19 | g.15180302C>T | CA632128169 | NOTCH3 | c.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 |
19 | g.15180303C= | CA2324744322 | NOTCH3 | c.3143-47G= (n.3143-47G=) c.2984-47G= (n.2984-47G=) c.2987-47G= (n.2987-47G=) | |
19 | g.15180303C>T | CA783615672 | NOTCH3 | c.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 |
19 | g.15180304C>A | CA2735795647 | NOTCH3 | c.3143-48G>T (n.3143-48G>T) c.2984-48G>T (n.2984-48G>T) c.2987-48G>T (n.2987-48G>T) | dbSNP |
19 | g.15180304C>T | CA2735795645 | NOTCH3 | c.3143-48G>A (n.3143-48G>A) c.2984-48G>A (n.2984-48G>A) c.2987-48G>A (n.2987-48G>A) | dbSNP |
19 | g.15180305C= | CA2324744323 | NOTCH3 | c.3143-49G= (n.3143-49G=) c.2984-49G= (n.2984-49G=) c.2987-49G= (n.2987-49G=) | |
19 | g.15180305C>T | CA993900362 | NOTCH3 | c.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 |
19 | g.15180306C>A | CA2583062909 | NOTCH3 | c.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 |
19 | g.15180307T>A | CA2576654458 | NOTCH3 | c.3143-51A>T (n.3143-51A>T) c.2984-51A>T (n.2984-51A>T) c.2987-51A>T (n.2987-51A>T) | |
19 | g.15180307T>C | CA2583062910 | NOTCH3 | c.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 |
19 | g.15180309C>A | CA2583062911 | NOTCH3 | c.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 |
19 | g.15180309C>T | CA2583062912 | NOTCH3 | c.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 |
19 | g.15180311G>A | CA2581974279 | NOTCH3 | c.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 |
19 | g.15180311G>C | CA2735795649 | NOTCH3 | c.3143-55C>G (n.3143-55C>G) c.2984-55C>G (n.2984-55C>G) c.2987-55C>G (n.2987-55C>G) | dbSNP |
19 | g.15180311G>T | CA2576654459 | NOTCH3 | c.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 |
19 | g.15180312C>T | CA2583062913 | NOTCH3 | c.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 |
19 | g.15180313C>T | CA2735795652 | NOTCH3 | c.3143-57G>A (n.3143-57G>A) c.2984-57G>A (n.2984-57G>A) c.2987-57G>A (n.2987-57G>A) | dbSNP |
19 | g.15180315C>A | CA2583062914 | NOTCH3 | c.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 |
19 | g.15180317_15180318insAACAAAAACCCAAACACACCCA | CA2813714777 | NOTCH3 | c.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) | |
19 | g.15180318T>A | CA2813714778 | NOTCH3 | c.3143-62A>T (n.3143-62A>T) c.2984-62A>T (n.2984-62A>T) c.2987-62A>T (n.2987-62A>T) | |
19 | g.15180318T>C | CA783615677 | NOTCH3 | c.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 |
19 | g.15180318T>G | CA305770101 | NOTCH3 | c.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 |
19 | g.15180318T= | CA2324744324 | NOTCH3 | c.3143-62A= (n.3143-62A=) c.2984-62A= (n.2984-62A=) c.2987-62A= (n.2987-62A=) | |
19 | g.15180319C= | CA2324744325 | NOTCH3 | c.3143-63G= (n.3143-63G=) c.2984-63G= (n.2984-63G=) c.2987-63G= (n.2987-63G=) | |
19 | g.15180319C>T | CA632128170 | NOTCH3 | c.3143-63G>A (n.3143-63G>A) c.2984-63G>A (n.2984-63G>A) c.2987-63G>A (n.2987-63G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180321C>A | CA632128171 | NOTCH3 | c.3143-65G>T (n.3143-65G>T) c.2984-65G>T (n.2984-65G>T) c.2987-65G>T (n.2987-65G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180321C= | CA2324744326 | NOTCH3 | c.3143-65G= (n.3143-65G=) c.2984-65G= (n.2984-65G=) c.2987-65G= (n.2987-65G=) | |
19 | g.15180321C>T | CA783615691 | NOTCH3 | c.3143-65G>A (n.3143-65G>A) c.2984-65G>A (n.2984-65G>A) c.2987-65G>A (n.2987-65G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180322_15180327del | CA2583062915 | NOTCH3 | c.3143-71_3143-66del (n.3143-71_3143-66del) c.2984-71_2984-66del (n.2984-71_2984-66del) c.2987-71_2987-66del (n.2987-71_2987-66del) | gnomAD v4 |
19 | g.15180324A= | CA2324744327 | NOTCH3 | c.3143-68T= (n.3143-68T=) c.2984-68T= (n.2984-68T=) c.2987-68T= (n.2987-68T=) | |
19 | g.15180324A>T | CA2324744328 | NOTCH3 | c.3143-68T>A (n.3143-68T>A) c.2984-68T>A (n.2984-68T>A) c.2987-68T>A (n.2987-68T>A) | dbSNP |
19 | g.15180325G>A | CA305770105 | NOTCH3 | c.3143-69C>T (n.3143-69C>T) c.2984-69C>T (n.2984-69C>T) c.2987-69C>T (n.2987-69C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180325G>C | CA2576654460 | NOTCH3 | c.3143-69C>G (n.3143-69C>G) c.2984-69C>G (n.2984-69C>G) c.2987-69C>G (n.2987-69C>G) | gnomAD v4 |
19 | g.15180325G= | CA2324744329 | NOTCH3 | c.3143-69C= (n.3143-69C=) c.2984-69C= (n.2984-69C=) c.2987-69C= (n.2987-69C=) | |
19 | g.15180325G>T | CA2583062916 | NOTCH3 | c.3143-69C>A (n.3143-69C>A) c.2984-69C>A (n.2984-69C>A) c.2987-69C>A (n.2987-69C>A) | gnomAD v4 |