Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150999035C>A | CA458872023 | NOS3 | c.906C>A (p.Leu302=) c.288C>A (p.Leu96=) | |
7 | g.150999035C>G | CA458872024 | NOS3 | c.906C>G (p.Leu302=) c.288C>G (p.Leu96=) | dbSNP |
7 | g.150999035C>T | CA458872025 | NOS3 | c.906C>T (p.Leu302=) c.288C>T (p.Leu96=) | |
7 | g.150999036T>A | CA369854499 | NOS3 | c.907T>A (p.Phe303Ile) c.289T>A (p.Phe97Ile) | |
7 | g.150999036T>C | CA369854500 | NOS3 | c.907T>C (p.Phe303Leu) c.289T>C (p.Phe97Leu) | |
7 | g.150999036T>G | CA369854501 | NOS3 | c.907T>G (p.Phe303Val) c.289T>G (p.Phe97Val) | |
7 | g.150999037del | CA2685608204 | NOS3 | c.908del (p.Phe303SerfsTer?) c.290del (p.Phe97SerfsTer?) | gnomAD v4 |
7 | g.150999037T>A | CA369854502 | NOS3 | c.908T>A (p.Phe303Tyr) c.290T>A (p.Phe97Tyr) | |
7 | g.150999037T>C | CA369854503 | NOS3 | c.908T>C (p.Phe303Ser) c.290T>C (p.Phe97Ser) | |
7 | g.150999037T>G | CA369854504 | NOS3 | c.908T>G (p.Phe303Cys) c.290T>G (p.Phe97Cys) | |
7 | g.150999038C>A | CA369854505 | NOS3 | c.909C>A (p.Phe303Leu) c.291C>A (p.Phe97Leu) | |
7 | g.150999038C= | CA1752470788 | NOS3 | c.909C= (p.Phe303=) c.291C= (p.Phe97=) | |
7 | g.150999038C>G | CA369854506 | NOS3 | c.909C>G (p.Phe303Leu) c.291C>G (p.Phe97Leu) | |
7 | g.150999038C>T | CA458872029 | NOS3 | c.909C>T (p.Phe303=) c.291C>T (p.Phe97=) | dbSNP gnomAD v4 |
7 | g.150999039C>A | CA369854507 | NOS3 | c.910C>A (p.Leu304Ile) c.292C>A (p.Leu98Ile) | |
7 | g.150999039C= | CA1752470789 | NOS3 | c.910C= (p.Leu304=) c.292C= (p.Leu98=) | |
7 | g.150999039C>G | CA369854508 | NOS3 | c.910C>G (p.Leu304Val) c.292C>G (p.Leu98Val) | |
7 | g.150999039C>T | CA4566792 | NOS3 | c.910C>T (p.Leu304Phe) c.292C>T (p.Leu98Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150999040T>A | CA369854511 | NOS3 | c.911T>A (p.Leu304His) c.293T>A (p.Leu98His) | |
7 | g.150999040T>C | CA369854509 | NOS3 | c.911T>C (p.Leu304Pro) c.293T>C (p.Leu98Pro) | |
7 | g.150999040T>G | CA369854510 | NOS3 | c.911T>G (p.Leu304Arg) c.293T>G (p.Leu98Arg) | |
7 | g.150999041T>A | CA458872042 | NOS3 | c.912T>A (p.Leu304=) c.294T>A (p.Leu98=) | |
7 | g.150999041T>C | CA458872044 | NOS3 | c.912T>C (p.Leu304=) c.294T>C (p.Leu98=) | |
7 | g.150999041T>G | CA458872048 | NOS3 | c.912T>G (p.Leu304=) c.294T>G (p.Leu98=) | |
7 | g.150999042C>A | CA369854512 | NOS3 | c.913C>A (p.Leu305Met) c.295C>A (p.Leu99Met) | |
7 | g.150999042C>G | CA369854513 | NOS3 | c.913C>G (p.Leu305Val) c.295C>G (p.Leu99Val) | |
7 | g.150999042C>T | CA458872049 | NOS3 | c.913C>T (p.Leu305=) c.295C>T (p.Leu99=) | |
7 | g.150999043T>A | CA369854514 | NOS3 | c.914T>A (p.Leu305Gln) c.296T>A (p.Leu99Gln) | |
7 | g.150999043T>C | CA369854515 | NOS3 | c.914T>C (p.Leu305Pro) c.296T>C (p.Leu99Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150999043T>G | CA369854516 | NOS3 | c.914T>G (p.Leu305Arg) c.296T>G (p.Leu99Arg) | |
7 | g.150999043T= | CA1752470790 | NOS3 | c.914T= (p.Leu305=) c.296T= (p.Leu99=) | |
7 | g.150999044G>A | CA458872050 | NOS3 | c.915G>A (p.Leu305=) c.297G>A (p.Leu99=) | |
7 | g.150999044G>C | CA458872051 | NOS3 | c.915G>C (p.Leu305=) c.297G>C (p.Leu99=) | |
7 | g.150999044G>T | CA458872053 | NOS3 | c.915G>T (p.Leu305=) c.297G>T (p.Leu99=) | |
7 | g.150999044_150999045delinsGC | CA1752470791 | NOS3 | c.915_916delinsGC (p.Leu305=) c.297_298delinsGC (p.Leu99=) | |
7 | g.150999045C>A | CA369854518 | NOS3 | c.916C>A (p.Pro306Thr) c.298C>A (p.Pro100Thr) | COSMIC |
7 | g.150999045C= | CA1752470792 | NOS3 | c.916C= (p.Pro306=) c.298C= (p.Pro100=) | |
7 | g.150999045C>G | CA369854517 | NOS3 | c.916C>G (p.Pro306Ala) c.298C>G (p.Pro100Ala) | |
7 | g.150999045C>T | CA4566794 | NOS3 | c.916C>T (p.Pro306Ser) c.298C>T (p.Pro100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150999050dup | CA4566793 | NOS3 | c.921dup (p.Glu308ArgfsTer5) c.303dup (p.Glu102ArgfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.150999049_150999050dup | CA2778427297 | NOS3 | c.920_921dup (p.Glu308ProfsTer?) c.302_303dup (p.Glu102ProfsTer?) | |
7 | g.150999050del | CA579075585 | NOS3 | c.921del (p.Glu308SerfsTer?) c.303del (p.Glu102SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.150999046C>A | CA369854519 | NOS3 | c.917C>A (p.Pro306His) c.299C>A (p.Pro100His) | |
7 | g.150999046C= | CA1752470793 | NOS3 | c.917C= (p.Pro306=) c.299C= (p.Pro100=) | |
7 | g.150999046C>G | CA369854520 | NOS3 | c.917C>G (p.Pro306Arg) c.299C>G (p.Pro100Arg) | |
7 | g.150999046C>T | CA369854521 | NOS3 | c.917C>T (p.Pro306Leu) c.299C>T (p.Pro100Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150999047C>A | CA458872057 | NOS3 | c.918C>A (p.Pro306=) c.300C>A (p.Pro100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150999047C= | CA1752470794 | NOS3 | c.918C= (p.Pro306=) c.300C= (p.Pro100=) | |
7 | g.150999047C>G | CA458872061 | NOS3 | c.918C>G (p.Pro306=) c.300C>G (p.Pro100=) | gnomAD v4 |
7 | g.150999047C>T | CA458872059 | NOS3 | c.918C>T (p.Pro306=) c.300C>T (p.Pro100=) | gnomAD v4 |