Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49621790_49621791del | CA2624726676 | MGAT2 | c.522_523del (p.Gln174HisfsTer12) | gnomAD v4 |
14 | g.49621791G>A | CA389619341 | MGAT2 | c.523G>A (p.Val175Met) | |
14 | g.49621791G>C | CA389619342 | MGAT2 | c.523G>C (p.Val175Leu) | gnomAD v4 |
14 | g.49621791G>T | CA389619343 | MGAT2 | c.523G>T (p.Val175Leu) | |
14 | g.49621792T>A | CA389619344 | MGAT2 | c.524T>A (p.Val175Glu) | |
14 | g.49621792T>C | CA389619345 | MGAT2 | c.524T>C (p.Val175Ala) | |
14 | g.49621792T>G | CA389619346 | MGAT2 | c.524T>G (p.Val175Gly) | |
14 | g.49621793G>A | CA486350145 | MGAT2 | c.525G>A (p.Val175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621793G>C | CA486350148 | MGAT2 | c.525G>C (p.Val175=) | |
14 | g.49621793G= | CA2135804644 | MGAT2 | c.525G= (p.Val175=) | |
14 | g.49621793G>T | CA486350151 | MGAT2 | c.525G>T (p.Val175=) | |
14 | g.49621794T>A | CA389619348 | MGAT2 | c.526T>A (p.Phe176Ile) | |
14 | g.49621794T>C | CA389619347 | MGAT2 | c.526T>C (p.Phe176Leu) | |
14 | g.49621794T>G | CA260660703 | MGAT2 | c.526T>G (p.Phe176Val) | dbSNP |
14 | g.49621794T= | CA2135804646 | MGAT2 | c.526T= (p.Phe176=) | |
14 | g.49621794_49621796delinsTTC | CA2135804650 | MGAT2 | c.526_528delinsTTC (p.Phe176=) | |
14 | g.49621795T>A | CA389619349 | MGAT2 | c.527T>A (p.Phe176Tyr) | gnomAD v4 |
14 | g.49621795T>C | CA389619350 | MGAT2 | c.527T>C (p.Phe176Ser) | gnomAD v4 |
14 | g.49621795T>G | CA389619351 | MGAT2 | c.527T>G (p.Phe176Cys) | |
14 | g.49621796_49621797del | CA2135804654 | MGAT2 | c.528_529del (p.Phe177SerfsTer9) | dbSNP |
14 | g.49621796C>A | CA389619352 | MGAT2 | c.528C>A (p.Phe176Leu) | |
14 | g.49621796C>G | CA389619353 | MGAT2 | c.528C>G (p.Phe176Leu) | COSMIC |
14 | g.49621796C>T | CA486350153 | MGAT2 | c.528C>T (p.Phe176=) | gnomAD v4 |
14 | g.49621797T>A | CA389619354 | MGAT2 | c.529T>A (p.Phe177Ile) | |
14 | g.49621797T>C | CA389619356 | MGAT2 | c.529T>C (p.Phe177Leu) | |
14 | g.49621797T>G | CA389619355 | MGAT2 | c.529T>G (p.Phe177Val) | |
14 | g.49621798T>A | CA389619357 | MGAT2 | c.530T>A (p.Phe177Tyr) | |
14 | g.49621798T>C | CA389619358 | MGAT2 | c.530T>C (p.Phe177Ser) | |
14 | g.49621798T>G | CA389619359 | MGAT2 | c.530T>G (p.Phe177Cys) | |
14 | g.49621799T>A | CA389619360 | MGAT2 | c.531T>A (p.Phe177Leu) | |
14 | g.49621799T>C | CA7172566 | MGAT2 | c.531T>C (p.Phe177=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621799T>G | CA389619361 | MGAT2 | c.531T>G (p.Phe177Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621799T= | CA2135804657 | MGAT2 | c.531T= (p.Phe177=) | |
14 | g.49621800C>A | CA389619362 | MGAT2 | c.532C>A (p.Pro178Thr) | |
14 | g.49621800C>G | CA389619363 | MGAT2 | c.532C>G (p.Pro178Ala) | |
14 | g.49621800C>T | CA389619364 | MGAT2 | c.532C>T (p.Pro178Ser) | |
14 | g.49621801C>A | CA389619365 | MGAT2 | c.533C>A (p.Pro178His) | |
14 | g.49621801C>G | CA389619366 | MGAT2 | c.533C>G (p.Pro178Arg) | |
14 | g.49621801C>T | CA389619367 | MGAT2 | c.533C>T (p.Pro178Leu) | |
14 | g.49621802T>A | CA486350163 | MGAT2 | c.534T>A (p.Pro178=) | |
14 | g.49621802T>C | CA486350165 | MGAT2 | c.534T>C (p.Pro178=) | |
14 | g.49621802T>G | CA486350166 | MGAT2 | c.534T>G (p.Pro178=) | |
14 | g.49621803T>A | CA389619368 | MGAT2 | c.535T>A (p.Phe179Ile) | |
14 | g.49621803T>C | CA389619370 | MGAT2 | c.535T>C (p.Phe179Leu) | |
14 | g.49621803T>G | CA389619369 | MGAT2 | c.535T>G (p.Phe179Val) | |
14 | g.49621804T>A | CA389619371 | MGAT2 | c.536T>A (p.Phe179Tyr) | |
14 | g.49621804T>C | CA389619372 | MGAT2 | c.536T>C (p.Phe179Ser) | |
14 | g.49621804T>G | CA389619373 | MGAT2 | c.536T>G (p.Phe179Cys) | |
14 | g.49621805C>A | CA389619374 | MGAT2 | c.537C>A (p.Phe179Leu) | |
14 | g.49621805C= | CA2135804659 | MGAT2 | c.537C= (p.Phe179=) |