Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49622120T>A | CA486350210 | MGAT2 | c.852T>A (p.Pro284=) | |
14 | g.49622120T>C | CA486350211 | MGAT2 | c.852T>C (p.Pro284=) | |
14 | g.49622120T>G | CA486350212 | MGAT2 | c.852T>G (p.Pro284=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622120T= | CA2135804816 | MGAT2 | c.852T= (p.Pro284=) | |
14 | g.49622121G>A | CA389620749 | MGAT2 | c.853G>A (p.Glu285Lys) | gnomAD v4 |
14 | g.49622121G>C | CA389620751 | MGAT2 | c.853G>C (p.Glu285Gln) | |
14 | g.49622121G>T | CA389620753 | MGAT2 | c.853G>T (p.Glu285Ter) | |
14 | g.49622122A>C | CA389620756 | MGAT2 | c.854A>C (p.Glu285Ala) | |
14 | g.49622122A>G | CA389620757 | MGAT2 | c.854A>G (p.Glu285Gly) | |
14 | g.49622122A>T | CA389620758 | MGAT2 | c.854A>T (p.Glu285Val) | |
14 | g.49622123A>C | CA389620761 | MGAT2 | c.855A>C (p.Glu285Asp) | |
14 | g.49622123A>G | CA486350216 | MGAT2 | c.855A>G (p.Glu285=) | |
14 | g.49622123A>T | CA389620763 | MGAT2 | c.855A>T (p.Glu285Asp) | |
14 | g.49622124T>A | CA389620767 | MGAT2 | c.856T>A (p.Cys286Ser) | |
14 | g.49622124T>C | CA389620769 | MGAT2 | c.856T>C (p.Cys286Arg) | |
14 | g.49622124T>G | CA389620765 | MGAT2 | c.856T>G (p.Cys286Gly) | |
14 | g.49622125G>A | CA389620773 | MGAT2 | c.857G>A (p.Cys286Tyr) | gnomAD v4 |
14 | g.49622125G>C | CA389620770 | MGAT2 | c.857G>C (p.Cys286Ser) | gnomAD v4 |
14 | g.49622125G>T | CA389620772 | MGAT2 | c.857G>T (p.Cys286Phe) | |
14 | g.49622126T>A | CA389620775 | MGAT2 | c.858T>A (p.Cys286Ter) | gnomAD v4 |
14 | g.49622126T>C | CA486350221 | MGAT2 | c.858T>C (p.Cys286=) | dbSNP |
14 | g.49622126T>G | CA389620777 | MGAT2 | c.858T>G (p.Cys286Trp) | |
14 | g.49622126T= | CA2135804817 | MGAT2 | c.858T= (p.Cys286=) | |
14 | g.49622128_49622130del | CA2624726688 | MGAT2 | c.860_862del (p.Asp287del) | gnomAD v4 |
14 | g.49622127G>A | CA389620778 | MGAT2 | c.859G>A (p.Asp287Asn) | |
14 | g.49622127G>C | CA389620780 | MGAT2 | c.859G>C (p.Asp287His) | dbSNP |
14 | g.49622127G= | CA2135804818 | MGAT2 | c.859G= (p.Asp287=) | |
14 | g.49622127G>T | CA389620782 | MGAT2 | c.859G>T (p.Asp287Tyr) | |
14 | g.49622128A>C | CA389620784 | MGAT2 | c.860A>C (p.Asp287Ala) | |
14 | g.49622128A>G | CA389620786 | MGAT2 | c.860A>G (p.Asp287Gly) | |
14 | g.49622128A>T | CA389620788 | MGAT2 | c.860A>T (p.Asp287Val) | |
14 | g.49622129T>A | CA389620790 | MGAT2 | c.861T>A (p.Asp287Glu) | |
14 | g.49622129T>C | CA486350229 | MGAT2 | c.861T>C (p.Asp287=) | |
14 | g.49622129T>G | CA389620792 | MGAT2 | c.861T>G (p.Asp287Glu) | |
14 | g.49622130G>A | CA389620796 | MGAT2 | c.862G>A (p.Val288Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622130G>C | CA389620797 | MGAT2 | c.862G>C (p.Val288Leu) | |
14 | g.49622130G= | CA2135804819 | MGAT2 | c.862G= (p.Val288=) | |
14 | g.49622130G>T | CA389620794 | MGAT2 | c.862G>T (p.Val288Phe) | |
14 | g.49622131T>A | CA389620799 | MGAT2 | c.863T>A (p.Val288Asp) | |
14 | g.49622131T>C | CA389620800 | MGAT2 | c.863T>C (p.Val288Ala) | |
14 | g.49622131T>G | CA389620802 | MGAT2 | c.863T>G (p.Val288Gly) | |
14 | g.49622132T>A | CA486350240 | MGAT2 | c.864T>A (p.Val288=) | |
14 | g.49622132T>C | CA486350238 | MGAT2 | c.864T>C (p.Val288=) | |
14 | g.49622132T>G | CA486350239 | MGAT2 | c.864T>G (p.Val288=) | |
14 | g.49622133C>A | CA389620804 | MGAT2 | c.865C>A (p.Leu289Ile) | |
14 | g.49622133C>G | CA389620806 | MGAT2 | c.865C>G (p.Leu289Val) | |
14 | g.49622133C>T | CA389620808 | MGAT2 | c.865C>T (p.Leu289Phe) | gnomAD v4 |
14 | g.49622134T>A | CA389620810 | MGAT2 | c.866T>A (p.Leu289His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622134T>C | CA389620814 | MGAT2 | c.866T>C (p.Leu289Pro) | |
14 | g.49622134T>G | CA389620811 | MGAT2 | c.866T>G (p.Leu289Arg) |