| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15180217C>A | CA404513828 | NOTCH3 | c.3182G>T (p.Cys1061Phe) c.3023G>T (p.Cys1008Phe) c.3026G>T (p.Cys1009Phe) | |
| 19 | g.15180217C= | CA2324744288 | NOTCH3 | c.3182G= (p.Cys1061=) c.3023G= (p.Cys1008=) c.3026G= (p.Cys1009=) | |
| 19 | g.15180217C>G | CA404513832 | NOTCH3 | c.3182G>C (p.Cys1061Ser) c.3023G>C (p.Cys1008Ser) c.3026G>C (p.Cys1009Ser) | |
| 19 | g.15180217C>T | CA16620807 | NOTCH3 | c.3182G>A (p.Cys1061Tyr) c.3023G>A (p.Cys1008Tyr) c.3026G>A (p.Cys1009Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15180218A= | CA2324744289 | NOTCH3 | c.3181T= (p.Cys1061=) c.3022T= (p.Cys1008=) c.3025T= (p.Cys1009=) | |
| 19 | g.15180218A>C | CA404513834 | NOTCH3 | c.3181T>G (p.Cys1061Gly) c.3022T>G (p.Cys1008Gly) c.3025T>G (p.Cys1009Gly) | |
| 19 | g.15180218A>G | CA404513837 | NOTCH3 | c.3181T>C (p.Cys1061Arg) c.3022T>C (p.Cys1008Arg) c.3025T>C (p.Cys1009Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15180218A>T | CA404513839 | NOTCH3 | c.3181T>A (p.Cys1061Ser) c.3022T>A (p.Cys1008Ser) c.3025T>A (p.Cys1009Ser) | |
| 19 | g.15180219C>A | CA404513843 | NOTCH3 | c.3180G>T (p.Gln1060His) c.3021G>T (p.Gln1007His) c.3024G>T (p.Gln1008His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15180219C= | CA2324744290 | NOTCH3 | c.3180G= (p.Gln1060=) c.3021G= (p.Gln1007=) c.3024G= (p.Gln1008=) | |
| 19 | g.15180219C>G | CA404513844 | NOTCH3 | c.3180G>C (p.Gln1060His) c.3021G>C (p.Gln1007His) c.3024G>C (p.Gln1008His) | |
| 19 | g.15180219C>T | CA505824371 | NOTCH3 | c.3180G>A (p.Gln1060=) c.3021G>A (p.Gln1007=) c.3024G>A (p.Gln1008=) | |
| 19 | g.15180220T>A | CA404513847 | NOTCH3 | c.3179A>T (p.Gln1060Leu) c.3020A>T (p.Gln1007Leu) c.3023A>T (p.Gln1008Leu) | |
| 19 | g.15180220T>C | CA404513849 | NOTCH3 | c.3179A>G (p.Gln1060Arg) c.3020A>G (p.Gln1007Arg) c.3023A>G (p.Gln1008Arg) | |
| 19 | g.15180220T>G | CA404513852 | NOTCH3 | c.3179A>C (p.Gln1060Pro) c.3020A>C (p.Gln1007Pro) c.3023A>C (p.Gln1008Pro) | |
| 19 | g.15180221G>A | CA404513855 | NOTCH3 | c.3178C>T (p.Gln1060Ter) c.3019C>T (p.Gln1007Ter) c.3022C>T (p.Gln1008Ter) | dbSNP |
| 19 | g.15180221G>C | CA404513858 | NOTCH3 | c.3178C>G (p.Gln1060Glu) c.3019C>G (p.Gln1007Glu) c.3022C>G (p.Gln1008Glu) | |
| 19 | g.15180221G>T | CA404513864 | NOTCH3 | c.3178C>A (p.Gln1060Lys) c.3019C>A (p.Gln1007Lys) c.3022C>A (p.Gln1008Lys) | |
| 19 | g.15180222C>A | CA505824382 | NOTCH3 | c.3177G>T (p.Gly1059=) c.3018G>T (p.Gly1006=) c.3021G>T (p.Gly1007=) | |
| 19 | g.15180222C= | CA2324744291 | NOTCH3 | c.3177G= (p.Gly1059=) c.3018G= (p.Gly1006=) c.3021G= (p.Gly1007=) | |
| 19 | g.15180222C>G | CA505824385 | NOTCH3 | c.3177G>C (p.Gly1059=) c.3018G>C (p.Gly1006=) c.3021G>C (p.Gly1007=) | |
| 19 | g.15180222C>T | CA9263159 | NOTCH3 | c.3177G>A (p.Gly1059=) c.3018G>A (p.Gly1006=) c.3021G>A (p.Gly1007=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15180223C>A | CA404513870 | NOTCH3 | c.3176G>T (p.Gly1059Val) c.3017G>T (p.Gly1006Val) c.3020G>T (p.Gly1007Val) | dbSNP |
| 19 | g.15180223C= | CA2324744292 | NOTCH3 | c.3176G= (p.Gly1059=) c.3017G= (p.Gly1006=) c.3020G= (p.Gly1007=) | |
| 19 | g.15180223C>G | CA404513868 | NOTCH3 | c.3176G>C (p.Gly1059Ala) c.3017G>C (p.Gly1006Ala) c.3020G>C (p.Gly1007Ala) | |
| 19 | g.15180223C>T | CA404513871 | NOTCH3 | c.3176G>A (p.Gly1059Glu) c.3017G>A (p.Gly1006Glu) c.3020G>A (p.Gly1007Glu) | |
| 19 | g.15180224C>A | CA404513874 | NOTCH3 | c.3175G>T (p.Gly1059Trp) c.3016G>T (p.Gly1006Trp) c.3019G>T (p.Gly1007Trp) | |
| 19 | g.15180224C>G | CA404513879 | NOTCH3 | c.3175G>C (p.Gly1059Arg) c.3016G>C (p.Gly1006Arg) c.3019G>C (p.Gly1007Arg) | |
| 19 | g.15180224C>T | CA404513876 | NOTCH3 | c.3175G>A (p.Gly1059Arg) c.3016G>A (p.Gly1006Arg) c.3019G>A (p.Gly1007Arg) | |
| 19 | g.15180225A= | CA2324744293 | NOTCH3 | c.3174T= (p.Gly1058=) c.3015T= (p.Gly1005=) c.3018T= (p.Gly1006=) | |
| 19 | g.15180225A>C | CA9263160 | NOTCH3 | c.3174T>G (p.Gly1058=) c.3015T>G (p.Gly1005=) c.3018T>G (p.Gly1006=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15180225A>G | CA505824415 | NOTCH3 | c.3174T>C (p.Gly1058=) c.3015T>C (p.Gly1005=) c.3018T>C (p.Gly1006=) | |
| 19 | g.15180225A>T | CA505824418 | NOTCH3 | c.3174T>A (p.Gly1058=) c.3015T>A (p.Gly1005=) c.3018T>A (p.Gly1006=) | dbSNP |
| 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) |