| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15191932_15191933del | CA9263825 | NOTCH3 | c.679+29_679+30del (n.679+29_679+30del) c.676+29_676+30del (n.676+29_676+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191933T>C | CA2583065606 | NOTCH3 | c.679+27A>G (n.679+27A>G) c.676+27A>G (n.676+27A>G) | gnomAD v4 |
| 19 | g.15191934G>C | CA2583065607 | NOTCH3 | c.679+26C>G (n.679+26C>G) c.676+26C>G (n.676+26C>G) | dbSNP gnomAD v4 |
| 19 | g.15191935A>G | CA2735786893 | NOTCH3 | c.679+25T>C (n.679+25T>C) c.676+25T>C (n.676+25T>C) | dbSNP |
| 19 | g.15191935A>T | CA2735786889 | NOTCH3 | c.679+25T>A (n.679+25T>A) c.676+25T>A (n.676+25T>A) | dbSNP |
| 19 | g.15191936C>A | CA2735623701 | NOTCH3 | c.679+24G>T (n.679+24G>T) c.676+24G>T (n.676+24G>T) | dbSNP |
| 19 | g.15191936C= | CA2324749920 | NOTCH3 | c.679+24G= (n.679+24G=) c.676+24G= (n.676+24G=) | |
| 19 | g.15191936C>T | CA9263826 | NOTCH3 | c.679+24G>A (n.679+24G>A) c.676+24G>A (n.676+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191937T>C | CA2735786894 | NOTCH3 | c.679+23A>G (n.679+23A>G) c.676+23A>G (n.676+23A>G) | dbSNP |
| 19 | g.15191940C>T | CA2583065608 | NOTCH3 | c.679+20G>A (n.679+20G>A) c.676+20G>A (n.676+20G>A) | gnomAD v4 |
| 19 | g.15191941C>A | CA2735786895 | NOTCH3 | c.679+19G>T (n.679+19G>T) c.676+19G>T (n.676+19G>T) | dbSNP |
| 19 | g.15191943G>A | CA2735786910 | NOTCH3 | c.679+17C>T (n.679+17C>T) c.676+17C>T (n.676+17C>T) | dbSNP |
| 19 | g.15191944A= | CA2324749921 | NOTCH3 | c.679+16T= (n.679+16T=) c.676+16T= (n.676+16T=) | |
| 19 | g.15191944A>G | CA9263827 | NOTCH3 | c.679+16T>C (n.679+16T>C) c.676+16T>C (n.676+16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191944A>T | CA657366710 | NOTCH3 | c.679+16T>A (n.679+16T>A) c.676+16T>A (n.676+16T>A) | COSMIC COSMIC |
| 19 | g.15191945G>A | CA9263828 | NOTCH3 | c.679+15C>T (n.679+15C>T) c.676+15C>T (n.676+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191945G>C | CA305777687 | NOTCH3 | c.679+15C>G (n.679+15C>G) c.676+15C>G (n.676+15C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191945G= | CA2324749922 | NOTCH3 | c.679+15C= (n.679+15C=) c.676+15C= (n.676+15C=) | |
| 19 | g.15191946T>A | CA2735786924 | NOTCH3 | c.679+14A>T (n.679+14A>T) c.676+14A>T (n.676+14A>T) | dbSNP |
| 19 | g.15191946T>C | CA2583065612 | NOTCH3 | c.679+14A>G (n.679+14A>G) c.676+14A>G (n.676+14A>G) | gnomAD v4 |
| 19 | g.15191946T>G | CA2583065613 | NOTCH3 | c.679+14A>C (n.679+14A>C) c.676+14A>C (n.676+14A>C) | gnomAD v4 |
| 19 | g.15191949G>C | CA2735786981 | NOTCH3 | c.679+11C>G (n.679+11C>G) c.676+11C>G (n.676+11C>G) | dbSNP |
| 19 | g.15191950G>A | CA632128108 | NOTCH3 | c.679+10C>T (n.679+10C>T) c.676+10C>T (n.676+10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191950G>C | CA305777693 | NOTCH3 | c.679+10C>G (n.679+10C>G) c.676+10C>G (n.676+10C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15191950G= | CA2324749923 | NOTCH3 | c.679+10C= (n.679+10C=) c.676+10C= (n.676+10C=) | |
| 19 | g.15191952T>A | CA2735787066 | NOTCH3 | c.679+8A>T (n.679+8A>T) c.676+8A>T (n.676+8A>T) | dbSNP |
| 19 | g.15191955C>G | CA2735787068 | NOTCH3 | c.679+5G>C (n.679+5G>C) c.676+5G>C (n.676+5G>C) | dbSNP |
| 19 | g.15191957C>A | CA9263829 | NOTCH3 | c.679+3G>T (n.679+3G>T) c.676+3G>T (n.676+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191957C= | CA2324749924 | NOTCH3 | c.679+3G= (n.679+3G=) c.676+3G= (n.676+3G=) | |
| 19 | g.15191957C>G | CA993898975 | NOTCH3 | c.679+3G>C (n.679+3G>C) c.676+3G>C (n.676+3G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191958A>C | CA404533005 | NOTCH3 | c.679+2T>G (n.679+2T>G) c.676+2T>G (n.676+2T>G) | |
| 19 | g.15191958A>G | CA404533006 | NOTCH3 | c.679+2T>C (n.679+2T>C) c.676+2T>C (n.676+2T>C) | |
| 19 | g.15191958A>T | CA404533008 | NOTCH3 | c.679+2T>A (n.679+2T>A) c.676+2T>A (n.676+2T>A) | |
| 19 | g.15191959C>A | CA404533011 | NOTCH3 | c.679+1G>T (n.679+1G>T) c.676+1G>T (n.676+1G>T) | dbSNP |
| 19 | g.15191959C>G | CA404533012 | NOTCH3 | c.679+1G>C (n.679+1G>C) c.676+1G>C (n.676+1G>C) | |
| 19 | g.15191959C>T | CA404533013 | NOTCH3 | c.679+1G>A (n.679+1G>A) c.676+1G>A (n.676+1G>A) | COSMIC COSMIC |
| 19 | g.15191960C>A | CA404533018 | NOTCH3 | c.679G>T (p.Gly227Trp) c.676G>T (p.Gly226Trp) | dbSNP |
| 19 | g.15191960C= | CA2324749925 | NOTCH3 | c.679G= (p.Gly227=) c.676G= (p.Gly226=) | |
| 19 | g.15191960C>G | CA404533016 | NOTCH3 | c.679G>C (p.Gly227Arg) c.676G>C (p.Gly226Arg) | gnomAD v4 |
| 19 | g.15191960C>T | CA404533014 | NOTCH3 | c.679G>A (p.Gly227Arg) c.676G>A (p.Gly226Arg) | |
| 19 | g.15191961A= | CA2324749926 | NOTCH3 | c.678T= (p.Pro226=) c.675T= (p.Pro225=) | |
| 19 | g.15191961A>C | CA506078609 | NOTCH3 | c.678T>G (p.Pro226=) c.675T>G (p.Pro225=) | |
| 19 | g.15191961A>G | CA9263830 | NOTCH3 | c.678T>C (p.Pro226=) c.675T>C (p.Pro225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191961A>T | CA506078610 | NOTCH3 | c.678T>A (p.Pro226=) c.675T>A (p.Pro225=) | |
| 19 | g.15191962G>A | CA404533021 | NOTCH3 | c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | gnomAD v4 |
| 19 | g.15191962G>C | CA404533022 | NOTCH3 | c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
| 19 | g.15191962G>T | CA404533023 | NOTCH3 | c.677C>A (p.Pro226His) c.674C>A (p.Pro225His) | |
| 19 | g.15191963G>A | CA404533026 | NOTCH3 | c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | dbSNP COSMIC COSMIC |
| 19 | g.15191963G>C | CA404533035 | NOTCH3 | c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | |
| 19 | g.15191963G>T | CA404533037 | NOTCH3 | c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) |