Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151010901G>A | CA369864737 | NOS3 | c.2899G>A (p.Gly967Arg) c.2281G>A (p.Gly761Arg) n.382G>A c.780G>A n.278G>A | |
7 | g.151010901G>C | CA369864736 | NOS3 | c.2899G>C (p.Gly967Arg) c.2281G>C (p.Gly761Arg) n.382G>C c.780G>C n.278G>C | |
7 | g.151010901G>T | CA369864735 | NOS3 | c.2899G>T (p.Gly967Trp) c.2281G>T (p.Gly761Trp) n.382G>T c.780G>T n.278G>T | |
7 | g.151010902G>A | CA369864738 | NOS3 | c.2900G>A (p.Gly967Glu) c.2282G>A (p.Gly761Glu) n.383G>A c.781G>A n.279G>A | |
7 | g.151010902G>C | CA369864739 | NOS3 | c.2900G>C (p.Gly967Ala) c.2282G>C (p.Gly761Ala) n.383G>C c.781G>C n.279G>C | |
7 | g.151010902G>T | CA369864740 | NOS3 | c.2900G>T (p.Gly967Val) c.2282G>T (p.Gly761Val) n.383G>T c.781G>T n.279G>T | |
7 | g.151010903G>A | CA458872588 | NOS3 | c.2901G>A (p.Gly967=) c.2283G>A (p.Gly761=) n.384G>A c.782G>A n.280G>A | |
7 | g.151010903G>C | CA458872589 | NOS3 | c.2901G>C (p.Gly967=) c.2283G>C (p.Gly761=) n.384G>C c.782G>C n.280G>C | |
7 | g.151010903G>T | CA458872590 | NOS3 | c.2901G>T (p.Gly967=) c.2283G>T (p.Gly761=) n.384G>T c.782G>T n.280G>T | |
7 | g.151010904C>A | CA369864741 | NOS3 | c.2902C>A (p.Leu968Met) c.2284C>A (p.Leu762Met) n.385C>A c.783C>A n.281C>A | |
7 | g.151010904C= | CA1752460168 | NOS3 | c.2902C= (p.Leu968=) c.2284C= (p.Leu762=) n.385C= c.783C= n.281C= | |
7 | g.151010904C>G | CA369864742 | NOS3 | c.2902C>G (p.Leu968Val) c.2284C>G (p.Leu762Val) n.385C>G c.783C>G n.281C>G | gnomAD v4 |
7 | g.151010904C>T | CA458872591 | NOS3 | c.2902C>T (p.Leu968=) c.2284C>T (p.Leu762=) n.385C>T c.783C>T n.281C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151010905T>A | CA369864743 | NOS3 | c.2903T>A (p.Leu968Gln) c.2285T>A (p.Leu762Gln) n.386T>A c.784T>A n.282T>A | dbSNP gnomAD v4 |
7 | g.151010905T>C | CA369864744 | NOS3 | c.2903T>C (p.Leu968Pro) c.2285T>C (p.Leu762Pro) n.386T>C c.784T>C n.282T>C | |
7 | g.151010905T>G | CA369864745 | NOS3 | c.2903T>G (p.Leu968Arg) c.2285T>G (p.Leu762Arg) n.386T>G c.784T>G n.282T>G | |
7 | g.151010905T= | CA1752460170 | NOS3 | c.2903T= (p.Leu968=) c.2285T= (p.Leu762=) n.386T= c.784T= n.282T= | |
7 | g.151010906G>A | CA4567527 | NOS3 | c.2904G>A (p.Leu968=) c.2286G>A (p.Leu762=) n.387G>A c.785G>A n.283G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151010906G>C | CA458872592 | NOS3 | c.2904G>C (p.Leu968=) c.2286G>C (p.Leu762=) n.387G>C c.785G>C n.283G>C | |
7 | g.151010906G= | CA1752460176 | NOS3 | c.2904G= (p.Leu968=) c.2286G= (p.Leu762=) n.387G= c.785G= n.283G= | |
7 | g.151010906G>T | CA458872593 | NOS3 | c.2904G>T (p.Leu968=) c.2286G>T (p.Leu762=) n.387G>T c.785G>T n.283G>T | |
7 | g.151010907G>A | CA369864746 | NOS3 | c.2905G>A (p.Gly969Ser) c.2287G>A (p.Gly763Ser) n.388G>A c.786G>A n.284G>A | dbSNP |
7 | g.151010907G>C | CA369864747 | NOS3 | c.2905G>C (p.Gly969Arg) c.2287G>C (p.Gly763Arg) n.388G>C c.786G>C n.284G>C | |
7 | g.151010907G= | CA1752460180 | NOS3 | c.2905G= (p.Gly969=) c.2287G= (p.Gly763=) n.388G= c.786G= n.284G= | |
7 | g.151010907G>T | CA369864748 | NOS3 | c.2905G>T (p.Gly969Cys) c.2287G>T (p.Gly763Cys) n.388G>T c.786G>T n.284G>T | |
7 | g.151010908G>A | CA369864749 | NOS3 | c.2906G>A (p.Gly969Asp) c.2288G>A (p.Gly763Asp) n.389G>A c.787G>A n.285G>A | |
7 | g.151010908G>C | CA369864751 | NOS3 | c.2906G>C (p.Gly969Ala) c.2288G>C (p.Gly763Ala) n.389G>C c.787G>C n.285G>C | |
7 | g.151010908G>T | CA369864750 | NOS3 | c.2906G>T (p.Gly969Val) c.2288G>T (p.Gly763Val) n.389G>T c.787G>T n.285G>T | |
7 | g.151010909C>A | CA458872594 | NOS3 | c.2907C>A (p.Gly969=) c.2289C>A (p.Gly763=) n.390C>A c.788C>A n.286C>A | |
7 | g.151010909C>G | CA458872595 | NOS3 | c.2907C>G (p.Gly969=) c.2289C>G (p.Gly763=) n.390C>G c.788C>G n.286C>G | |
7 | g.151010909C>T | CA458872596 | NOS3 | c.2907C>T (p.Gly969=) c.2289C>T (p.Gly763=) n.390C>T c.788C>T n.286C>T | gnomAD v4 |
7 | g.151010913dup | CA2778427637 | NOS3 | c.2911dup (p.Leu971ProfsTer?) c.2293dup (p.Leu765ProfsTer?) n.394dup c.792dup n.290dup | |
7 | g.151010913del | CA2685613325 | NOS3 | c.2911del (p.Leu971CysfsTer10) c.2293del (p.Leu765CysfsTer10) n.394del c.792del n.290del | gnomAD v4 |
7 | g.151010910C>A | CA369864752 | NOS3 | c.2908C>A (p.Pro970Thr) c.2290C>A (p.Pro764Thr) n.391C>A c.789C>A n.287C>A | |
7 | g.151010910C= | CA1752460184 | NOS3 | c.2908C= (p.Pro970=) c.2290C= (p.Pro764=) n.391C= c.789C= n.287C= | |
7 | g.151010910C>G | CA369864753 | NOS3 | c.2908C>G (p.Pro970Ala) c.2290C>G (p.Pro764Ala) n.391C>G c.789C>G n.287C>G | |
7 | g.151010910C>T | CA4567528 | NOS3 | c.2908C>T (p.Pro970Ser) c.2290C>T (p.Pro764Ser) n.391C>T c.789C>T n.287C>T | dbSNP ExAC gnomAD v2 |
7 | g.151010911C>A | CA369864754 | NOS3 | c.2909C>A (p.Pro970His) c.2291C>A (p.Pro764His) n.392C>A c.790C>A n.288C>A | |
7 | g.151010911C>G | CA369864755 | NOS3 | c.2909C>G (p.Pro970Arg) c.2291C>G (p.Pro764Arg) n.392C>G c.790C>G n.288C>G | |
7 | g.151010911C>T | CA369864756 | NOS3 | c.2909C>T (p.Pro970Leu) c.2291C>T (p.Pro764Leu) n.392C>T c.790C>T n.288C>T | |
7 | g.151010912C>A | CA458872597 | NOS3 | c.2910C>A (p.Pro970=) c.2292C>A (p.Pro764=) n.393C>A c.791C>A n.289C>A | |
7 | g.151010912C>G | CA458872598 | NOS3 | c.2910C>G (p.Pro970=) c.2292C>G (p.Pro764=) n.393C>G c.791C>G n.289C>G | COSMIC |
7 | g.151010912C>T | CA458872599 | NOS3 | c.2910C>T (p.Pro970=) c.2292C>T (p.Pro764=) n.393C>T c.791C>T n.289C>T | |
7 | g.151010913C>A | CA369864757 | NOS3 | c.2911C>A (p.Leu971Met) c.2293C>A (p.Leu765Met) n.394C>A c.792C>A n.290C>A | |
7 | g.151010913C= | CA1752460187 | NOS3 | c.2911C= (p.Leu971=) c.2293C= (p.Leu765=) n.394C= c.792C= n.290C= | |
7 | g.151010913C>G | CA369864758 | NOS3 | c.2911C>G (p.Leu971Val) c.2293C>G (p.Leu765Val) n.394C>G c.792C>G n.290C>G | |
7 | g.151010913C>T | CA458872600 | NOS3 | c.2911C>T (p.Leu971=) c.2293C>T (p.Leu765=) n.394C>T c.792C>T n.290C>T | dbSNP |
7 | g.151010914T>A | CA369864759 | NOS3 | c.2912T>A (p.Leu971Gln) c.2294T>A (p.Leu765Gln) n.395T>A c.793T>A n.291T>A | |
7 | g.151010914T>C | CA369864760 | NOS3 | c.2912T>C (p.Leu971Pro) c.2294T>C (p.Leu765Pro) n.395T>C c.793T>C n.291T>C | |
7 | g.151010914T>G | CA369864761 | NOS3 | c.2912T>G (p.Leu971Arg) c.2294T>G (p.Leu765Arg) n.395T>G c.793T>G n.291T>G | gnomAD v4 |