Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49622061G>A | CA389620484 | MGAT2 | c.793G>A (p.Ala265Thr) | |
14 | g.49622061G>C | CA389620486 | MGAT2 | c.793G>C (p.Ala265Pro) | |
14 | g.49622061G= | CA2135804794 | MGAT2 | c.793G= (p.Ala265=) | |
14 | g.49622061G>T | CA260660788 | MGAT2 | c.793G>T (p.Ala265Ser) | dbSNP |
14 | g.49622062C>A | CA389620488 | MGAT2 | c.794C>A (p.Ala265Asp) | |
14 | g.49622062C= | CA2135804795 | MGAT2 | c.794C= (p.Ala265=) | |
14 | g.49622062C>G | CA389620490 | MGAT2 | c.794C>G (p.Ala265Gly) | |
14 | g.49622062C>T | CA389620492 | MGAT2 | c.794C>T (p.Ala265Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622063C>A | CA486350102 | MGAT2 | c.795C>A (p.Ala265=) | |
14 | g.49622063C>G | CA486350104 | MGAT2 | c.795C>G (p.Ala265=) | |
14 | g.49622063C>T | CA486350105 | MGAT2 | c.795C>T (p.Ala265=) | |
14 | g.49622064C>A | CA389620494 | MGAT2 | c.796C>A (p.Pro266Thr) | |
14 | g.49622064C>G | CA389620495 | MGAT2 | c.796C>G (p.Pro266Ala) | gnomAD v4 |
14 | g.49622064C>T | CA389620497 | MGAT2 | c.796C>T (p.Pro266Ser) | |
14 | g.49622065C>A | CA389620499 | MGAT2 | c.797C>A (p.Pro266Gln) | |
14 | g.49622065C= | CA2135804797 | MGAT2 | c.797C= (p.Pro266=) | |
14 | g.49622065C>G | CA389620503 | MGAT2 | c.797C>G (p.Pro266Arg) | |
14 | g.49622065C>T | CA389620501 | MGAT2 | c.797C>T (p.Pro266Leu) | ClinVar dbSNP |
14 | g.49622065_49622067delinsCAG | CA2135804796 | MGAT2 | c.797_799delinsCAG (p.Pro266=) | |
14 | g.49622066A>C | CA486350114 | MGAT2 | c.798A>C (p.Pro266=) | |
14 | g.49622066A>G | CA486350111 | MGAT2 | c.798A>G (p.Pro266=) | |
14 | g.49622066A>T | CA486350112 | MGAT2 | c.798A>T (p.Pro266=) | |
14 | g.49622067_49622068del | CA7172602 | MGAT2 | c.799_800del (p.Asp267LeufsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49622067G>A | CA389620506 | MGAT2 | c.799G>A (p.Asp267Asn) | |
14 | g.49622067G>C | CA389620508 | MGAT2 | c.799G>C (p.Asp267His) | ClinVar dbSNP |
14 | g.49622067G= | CA2135804798 | MGAT2 | c.799G= (p.Asp267=) | |
14 | g.49622067G>T | CA389620510 | MGAT2 | c.799G>T (p.Asp267Tyr) | |
14 | g.49622068A>C | CA389620512 | MGAT2 | c.800A>C (p.Asp267Ala) | |
14 | g.49622068A>G | CA389620514 | MGAT2 | c.800A>G (p.Asp267Gly) | |
14 | g.49622068A>T | CA389620516 | MGAT2 | c.800A>T (p.Asp267Val) | |
14 | g.49622069C>A | CA389620518 | MGAT2 | c.801C>A (p.Asp267Glu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622069C= | CA2135804799 | MGAT2 | c.801C= (p.Asp267=) | |
14 | g.49622069C>G | CA389620520 | MGAT2 | c.801C>G (p.Asp267Glu) | |
14 | g.49622069C>T | CA486350123 | MGAT2 | c.801C>T (p.Asp267=) | |
14 | g.49622070T>A | CA389620522 | MGAT2 | c.802T>A (p.Phe268Ile) | |
14 | g.49622070T>C | CA389620524 | MGAT2 | c.802T>C (p.Phe268Leu) | |
14 | g.49622070T>G | CA389620526 | MGAT2 | c.802T>G (p.Phe268Val) | |
14 | g.49622071T>A | CA389620531 | MGAT2 | c.803T>A (p.Phe268Tyr) | |
14 | g.49622071T>C | CA389620528 | MGAT2 | c.803T>C (p.Phe268Ser) | |
14 | g.49622071T>G | CA389620529 | MGAT2 | c.803T>G (p.Phe268Cys) | |
14 | g.49622072T>A | CA389620533 | MGAT2 | c.804T>A (p.Phe268Leu) | |
14 | g.49622072T>C | CA486350129 | MGAT2 | c.804T>C (p.Phe268=) | gnomAD v4 |
14 | g.49622072T>G | CA389620535 | MGAT2 | c.804T>G (p.Phe268Leu) | |
14 | g.49622073T>A | CA389620537 | MGAT2 | c.805T>A (p.Tyr269Asn) | gnomAD v4 |
14 | g.49622073T>C | CA7172603 | MGAT2 | c.805T>C (p.Tyr269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622073T>G | CA389620540 | MGAT2 | c.805T>G (p.Tyr269Asp) | |
14 | g.49622073T= | CA2135804800 | MGAT2 | c.805T= (p.Tyr269=) | |
14 | g.49622074A>C | CA389620543 | MGAT2 | c.806A>C (p.Tyr269Ser) | |
14 | g.49622074A>G | CA389620544 | MGAT2 | c.806A>G (p.Tyr269Cys) | |
14 | g.49622074A>T | CA389620546 | MGAT2 | c.806A>T (p.Tyr269Phe) |