Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49622185A>C | CA389621006 | MGAT2 | c.917A>C (p.Lys306Thr) | |
14 | g.49622185A>G | CA389621007 | MGAT2 | c.917A>G (p.Lys306Arg) | |
14 | g.49622185A>T | CA389621008 | MGAT2 | c.917A>T (p.Lys306Met) | |
14 | g.49622186G>A | CA486349951 | MGAT2 | c.918G>A (p.Lys306=) | |
14 | g.49622186G>C | CA389621009 | MGAT2 | c.918G>C (p.Lys306Asn) | gnomAD v4 |
14 | g.49622186G>T | CA389621010 | MGAT2 | c.918G>T (p.Lys306Asn) | |
14 | g.49622187G>A | CA389621011 | MGAT2 | c.919G>A (p.Val307Ile) | gnomAD v4 |
14 | g.49622187G>C | CA389621012 | MGAT2 | c.919G>C (p.Val307Leu) | |
14 | g.49622187G>T | CA389621013 | MGAT2 | c.919G>T (p.Val307Leu) | |
14 | g.49622188T>A | CA389621014 | MGAT2 | c.920T>A (p.Val307Glu) | |
14 | g.49622188T>C | CA389621015 | MGAT2 | c.920T>C (p.Val307Ala) | |
14 | g.49622188T>G | CA389621016 | MGAT2 | c.920T>G (p.Val307Gly) | |
14 | g.49622189A= | CA2135804844 | MGAT2 | c.921A= (p.Val307=) | |
14 | g.49622189A>C | CA260660822 | MGAT2 | c.921A>C (p.Val307=) | dbSNP gnomAD v4 |
14 | g.49622189A>G | CA7172619 | MGAT2 | c.921A>G (p.Val307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622189A>T | CA486349962 | MGAT2 | c.921A>T (p.Val307=) | |
14 | g.49622190G>A | CA389621017 | MGAT2 | c.922G>A (p.Asp308Asn) | |
14 | g.49622190G>C | CA389621019 | MGAT2 | c.922G>C (p.Asp308His) | gnomAD v4 |
14 | g.49622190G>T | CA389621018 | MGAT2 | c.922G>T (p.Asp308Tyr) | |
14 | g.49622191A>C | CA389621020 | MGAT2 | c.923A>C (p.Asp308Ala) | |
14 | g.49622191A>G | CA389621021 | MGAT2 | c.923A>G (p.Asp308Gly) | gnomAD v4 |
14 | g.49622191A>T | CA389621022 | MGAT2 | c.923A>T (p.Asp308Val) | |
14 | g.49622192T>A | CA389621023 | MGAT2 | c.924T>A (p.Asp308Glu) | |
14 | g.49622192T>C | CA486349969 | MGAT2 | c.924T>C (p.Asp308=) | |
14 | g.49622192T>G | CA389621024 | MGAT2 | c.924T>G (p.Asp308Glu) | |
14 | g.49622193G>A | CA7172620 | MGAT2 | c.925G>A (p.Val309Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49622193G>C | CA389621027 | MGAT2 | c.925G>C (p.Val309Leu) | |
14 | g.49622193G= | CA2135804845 | MGAT2 | c.925G= (p.Val309=) | |
14 | g.49622193G>T | CA389621025 | MGAT2 | c.925G>T (p.Val309Leu) | |
14 | g.49622194T>A | CA389621031 | MGAT2 | c.926T>A (p.Val309Glu) | |
14 | g.49622194T>C | CA389621033 | MGAT2 | c.926T>C (p.Val309Ala) | |
14 | g.49622194T>G | CA389621035 | MGAT2 | c.926T>G (p.Val309Gly) | gnomAD v4 |
14 | g.49622195G>A | CA486349974 | MGAT2 | c.927G>A (p.Val309=) | |
14 | g.49622195G>C | CA486349976 | MGAT2 | c.927G>C (p.Val309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622195G= | CA2135804846 | MGAT2 | c.927G= (p.Val309=) | |
14 | g.49622195G>T | CA486349975 | MGAT2 | c.927G>T (p.Val309=) | |
14 | g.49622196A>C | CA389621037 | MGAT2 | c.928A>C (p.Lys310Gln) | |
14 | g.49622196A>G | CA389621038 | MGAT2 | c.928A>G (p.Lys310Glu) | |
14 | g.49622196A>T | CA389621040 | MGAT2 | c.928A>T (p.Lys310Ter) | |
14 | g.49622197A>C | CA389621042 | MGAT2 | c.929A>C (p.Lys310Thr) | |
14 | g.49622197A>G | CA389621046 | MGAT2 | c.929A>G (p.Lys310Arg) | |
14 | g.49622197A>T | CA389621045 | MGAT2 | c.929A>T (p.Lys310Ile) | |
14 | g.49622198A>C | CA389621048 | MGAT2 | c.930A>C (p.Lys310Asn) | |
14 | g.49622198A>G | CA486349981 | MGAT2 | c.930A>G (p.Lys310=) | |
14 | g.49622198A>T | CA389621050 | MGAT2 | c.930A>T (p.Lys310Asn) | |
14 | g.49622199A>C | CA389621052 | MGAT2 | c.931A>C (p.Thr311Pro) | |
14 | g.49622199A>G | CA389621053 | MGAT2 | c.931A>G (p.Thr311Ala) | |
14 | g.49622199A>T | CA389621055 | MGAT2 | c.931A>T (p.Thr311Ser) | |
14 | g.49622200C>A | CA389621057 | MGAT2 | c.932C>A (p.Thr311Asn) | |
14 | g.49622200C= | CA2135804847 | MGAT2 | c.932C= (p.Thr311=) |