Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108357C>A | CA502178297 | GAA | c.1023C>A (p.Ile341=) | ClinVar gnomAD v4 |
17 | g.80108357C>G | CA401364621 | GAA | c.1023C>G (p.Ile341Met) | |
17 | g.80108357C>T | CA502178298 | GAA | c.1023C>T (p.Ile341=) | gnomAD v4 |
17 | g.80108358T>A | CA401364623 | GAA | c.1024T>A (p.Phe342Ile) | |
17 | g.80108358T>C | CA401364625 | GAA | c.1024T>C (p.Phe342Leu) | gnomAD v4 |
17 | g.80108358T>G | CA401364627 | GAA | c.1024T>G (p.Phe342Val) | |
17 | g.80108359T>A | CA401364628 | GAA | c.1025T>A (p.Phe342Tyr) | |
17 | g.80108359T>C | CA401364630 | GAA | c.1025T>C (p.Phe342Ser) | |
17 | g.80108359T>G | CA401364632 | GAA | c.1025T>G (p.Phe342Cys) | |
17 | g.80108360C>A | CA401364636 | GAA | c.1026C>A (p.Phe342Leu) | |
17 | g.80108360C= | CA2277812688 | GAA | c.1026C= (p.Phe342=) | |
17 | g.80108360C>G | CA401364634 | GAA | c.1026C>G (p.Phe342Leu) | |
17 | g.80108360C>T | CA294891803 | GAA | c.1026C>T (p.Phe342=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108361C>A | CA401364638 | GAA | c.1027C>A (p.Leu343Met) | |
17 | g.80108361C>G | CA401364640 | GAA | c.1027C>G (p.Leu343Val) | |
17 | g.80108361C>T | CA502178299 | GAA | c.1027C>T (p.Leu343=) | |
17 | g.80108362T>A | CA401364642 | GAA | c.1028T>A (p.Leu343Gln) | |
17 | g.80108362T>C | CA401364644 | GAA | c.1028T>C (p.Leu343Pro) | |
17 | g.80108362T>G | CA401364645 | GAA | c.1028T>G (p.Leu343Arg) | |
17 | g.80108362_80108364delinsTGG | CA2277812689 | GAA | c.1028_1030delinsTGG (p.Leu343=) | |
17 | g.80108363G>A | CA502178300 | GAA | c.1029G>A (p.Leu343=) | gnomAD v4 |
17 | g.80108363G>C | CA502178301 | GAA | c.1029G>C (p.Leu343=) | |
17 | g.80108363G>T | CA502178302 | GAA | c.1029G>T (p.Leu343=) | |
17 | g.80108364_80108365del | CA913191005 | GAA | c.1030_1031del (p.Gly344ProfsTer?) | ClinVar dbSNP |
17 | g.80108364G>A | CA401364650 | GAA | c.1030G>A (p.Gly344Ser) | dbSNP |
17 | g.80108364G>C | CA401364649 | GAA | c.1030G>C (p.Gly344Arg) | |
17 | g.80108364G= | CA2277812690 | GAA | c.1030G= (p.Gly344=) | |
17 | g.80108364G>T | CA401364647 | GAA | c.1030G>T (p.Gly344Cys) | |
17 | g.80108365G>A | CA401364652 | GAA | c.1031G>A (p.Gly344Asp) | |
17 | g.80108365G>C | CA401364653 | GAA | c.1031G>C (p.Gly344Ala) | |
17 | g.80108365G>T | CA401364655 | GAA | c.1031G>T (p.Gly344Val) | gnomAD v4 |
17 | g.80108366C>A | CA502178304 | GAA | c.1032C>A (p.Gly344=) | |
17 | g.80108366C>G | CA502178306 | GAA | c.1032C>G (p.Gly344=) | |
17 | g.80108366C>T | CA502178307 | GAA | c.1032C>T (p.Gly344=) | gnomAD v4 |
17 | g.80108367C>A | CA401364657 | GAA | c.1033C>A (p.Pro345Thr) | |
17 | g.80108367C>G | CA401364659 | GAA | c.1033C>G (p.Pro345Ala) | |
17 | g.80108367C>T | CA401364661 | GAA | c.1033C>T (p.Pro345Ser) | ClinVar gnomAD v4 |
17 | g.80108368C>A | CA401364662 | GAA | c.1034C>A (p.Pro345Gln) | |
17 | g.80108368C>G | CA401364666 | GAA | c.1034C>G (p.Pro345Arg) | |
17 | g.80108368C>T | CA401364664 | GAA | c.1034C>T (p.Pro345Leu) | |
17 | g.80108369A= | CA2277812691 | GAA | c.1035A= (p.Pro345=) | |
17 | g.80108369A>C | CA294891820 | GAA | c.1035A>C (p.Pro345=) | ClinVar dbSNP |
17 | g.80108369A>G | CA502178309 | GAA | c.1035A>G (p.Pro345=) | |
17 | g.80108369A>T | CA502178310 | GAA | c.1035A>T (p.Pro345=) | |
17 | g.80108370G>A | CA401364669 | GAA | c.1036G>A (p.Glu346Lys) | |
17 | g.80108370G>C | CA401364670 | GAA | c.1036G>C (p.Glu346Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108370G= | CA2277812692 | GAA | c.1036G= (p.Glu346=) | |
17 | g.80108370G>T | CA401364672 | GAA | c.1036G>T (p.Glu346Ter) | |
17 | g.80108371A>C | CA401364674 | GAA | c.1037A>C (p.Glu346Ala) | |
17 | g.80108371A>G | CA401364676 | GAA | c.1037A>G (p.Glu346Gly) |