Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49622053A= | CA2135804791 | MGAT2 | c.785A= (p.His262=) | |
14 | g.49622053A>C | CA389620447 | MGAT2 | c.785A>C (p.His262Pro) | gnomAD v4 |
14 | g.49622053A>G | CA254037 | MGAT2 | c.785A>G (p.His262Arg) | ClinVar dbSNP |
14 | g.49622053A>T | CA389620449 | MGAT2 | c.785A>T (p.His262Leu) | |
14 | g.49622054C>A | CA389620451 | MGAT2 | c.786C>A (p.His262Gln) | |
14 | g.49622054C= | CA2135804792 | MGAT2 | c.786C= (p.His262=) | |
14 | g.49622054C>G | CA389620453 | MGAT2 | c.786C>G (p.His262Gln) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.49622054C>T | CA486350089 | MGAT2 | c.786C>T (p.His262=) | gnomAD v4 |
14 | g.49622055T>A | CA389620455 | MGAT2 | c.787T>A (p.Tyr263Asn) | |
14 | g.49622055T>C | CA389620457 | MGAT2 | c.787T>C (p.Tyr263His) | |
14 | g.49622055T>G | CA389620459 | MGAT2 | c.787T>G (p.Tyr263Asp) | |
14 | g.49622056A= | CA2135804793 | MGAT2 | c.788A= (p.Tyr263=) | |
14 | g.49622056A>C | CA389620460 | MGAT2 | c.788A>C (p.Tyr263Ser) | |
14 | g.49622056A>G | CA389620463 | MGAT2 | c.788A>G (p.Tyr263Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622056A>T | CA389620461 | MGAT2 | c.788A>T (p.Tyr263Phe) | |
14 | g.49622057C>A | CA389620466 | MGAT2 | c.789C>A (p.Tyr263Ter) | |
14 | g.49622057C>G | CA389620467 | MGAT2 | c.789C>G (p.Tyr263Ter) | |
14 | g.49622057C>T | CA486350094 | MGAT2 | c.789C>T (p.Tyr263=) | |
14 | g.49622058T>A | CA389620470 | MGAT2 | c.790T>A (p.Leu264Ile) | |
14 | g.49622058T>C | CA486350095 | MGAT2 | c.790T>C (p.Leu264=) | |
14 | g.49622058T>G | CA389620471 | MGAT2 | c.790T>G (p.Leu264Val) | gnomAD v4 |
14 | g.49622059T>A | CA389620474 | MGAT2 | c.791T>A (p.Leu264Ter) | gnomAD v4 |
14 | g.49622059T>C | CA389620478 | MGAT2 | c.791T>C (p.Leu264Ser) | |
14 | g.49622059T>G | CA389620476 | MGAT2 | c.791T>G (p.Leu264Ter) | |
14 | g.49622060A>C | CA389620480 | MGAT2 | c.792A>C (p.Leu264Phe) | |
14 | g.49622060A>G | CA486350096 | MGAT2 | c.792A>G (p.Leu264=) | |
14 | g.49622060A>T | CA389620482 | MGAT2 | c.792A>T (p.Leu264Phe) | |
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 |