| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99884627C>A | CA341321704 | AGL | c.2605C>A (p.Gln869Lys) n.2816C>A c.2557C>A (p.Gln853Lys) c.2554C>A (p.Gln852Lys) c.865C>A (p.Gln289Lys) | |
| 1 | g.99884627C= | CA1183930644 | AGL | c.2605C= (p.Gln869=) n.2816C= c.2557C= (p.Gln853=) c.2554C= (p.Gln852=) c.865C= (p.Gln289=) | |
| 1 | g.99884627C>G | CA341321706 | AGL | c.2605C>G (p.Gln869Glu) n.2816C>G c.2557C>G (p.Gln853Glu) c.2554C>G (p.Gln852Glu) c.865C>G (p.Gln289Glu) | |
| 1 | g.99884627C>T | CA16040838 | AGL | c.2605C>T (p.Gln869Ter) n.2816C>T c.2557C>T (p.Gln853Ter) c.2554C>T (p.Gln852Ter) c.865C>T (p.Gln289Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884628A>C | CA341321707 | AGL | c.2606A>C (p.Gln869Pro) n.2817A>C c.2558A>C (p.Gln853Pro) c.2555A>C (p.Gln852Pro) c.866A>C (p.Gln289Pro) | |
| 1 | g.99884628A>G | CA341321708 | AGL | c.2606A>G (p.Gln869Arg) n.2817A>G c.2558A>G (p.Gln853Arg) c.2555A>G (p.Gln852Arg) c.866A>G (p.Gln289Arg) | |
| 1 | g.99884628A>T | CA341321709 | AGL | c.2606A>T (p.Gln869Leu) n.2817A>T c.2558A>T (p.Gln853Leu) c.2555A>T (p.Gln852Leu) c.866A>T (p.Gln289Leu) | |
| 1 | g.99884629A= | CA1148564872 | AGL | c.2607A= (p.Gln869=) n.2818A= c.2559A= (p.Gln853=) c.2556A= (p.Gln852=) c.867A= (p.Gln289=) | |
| 1 | g.99884629A>C | CA341321711 | AGL | c.2607A>C (p.Gln869His) n.2818A>C c.2559A>C (p.Gln853His) c.2556A>C (p.Gln852His) c.867A>C (p.Gln289His) | |
| 1 | g.99884629A>G | CA966839 | AGL | c.2607A>G (p.Gln869=) n.2818A>G c.2559A>G (p.Gln853=) c.2556A>G (p.Gln852=) c.867A>G (p.Gln289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884629A>T | CA341321715 | AGL | c.2607A>T (p.Gln869His) n.2818A>T c.2559A>T (p.Gln853His) c.2556A>T (p.Gln852His) c.867A>T (p.Gln289His) | ClinVar |
| 1 | g.99884630_99884633del | CA2586966998 | AGL | c.2608_2611del (p.Phe870ValfsTer9) n.2819_2822del c.2560_2563del (p.Phe854ValfsTer9) c.2557_2560del (p.Phe853ValfsTer9) c.868_871del (p.Phe290ValfsTer9) | |
| 1 | g.99884630T>A | CA341321723 | AGL | c.2608T>A (p.Phe870Ile) n.2819T>A c.2560T>A (p.Phe854Ile) c.2557T>A (p.Phe853Ile) c.868T>A (p.Phe290Ile) | |
| 1 | g.99884630T>C | CA341321718 | AGL | c.2608T>C (p.Phe870Leu) n.2819T>C c.2560T>C (p.Phe854Leu) c.2557T>C (p.Phe853Leu) c.868T>C (p.Phe290Leu) | |
| 1 | g.99884630T>G | CA341321721 | AGL | c.2608T>G (p.Phe870Val) n.2819T>G c.2560T>G (p.Phe854Val) c.2557T>G (p.Phe853Val) c.868T>G (p.Phe290Val) | |
| 1 | g.99884631T>A | CA341321725 | AGL | c.2609T>A (p.Phe870Tyr) n.2820T>A c.2561T>A (p.Phe854Tyr) c.2558T>A (p.Phe853Tyr) c.869T>A (p.Phe290Tyr) | |
| 1 | g.99884631T>C | CA341321727 | AGL | c.2609T>C (p.Phe870Ser) n.2820T>C c.2561T>C (p.Phe854Ser) c.2558T>C (p.Phe853Ser) c.869T>C (p.Phe290Ser) | |
| 1 | g.99884631T>G | CA341321729 | AGL | c.2609T>G (p.Phe870Cys) n.2820T>G c.2561T>G (p.Phe854Cys) c.2558T>G (p.Phe853Cys) c.869T>G (p.Phe290Cys) | |
| 1 | g.99884632C>A | CA341321731 | AGL | c.2610C>A (p.Phe870Leu) n.2821C>A c.2562C>A (p.Phe854Leu) c.2559C>A (p.Phe853Leu) c.870C>A (p.Phe290Leu) | |
| 1 | g.99884632C>G | CA341321732 | AGL | c.2610C>G (p.Phe870Leu) n.2821C>G c.2562C>G (p.Phe854Leu) c.2559C>G (p.Phe853Leu) c.870C>G (p.Phe290Leu) | |
| 1 | g.99884632C>T | CA419083637 | AGL | c.2610C>T (p.Phe870=) n.2821C>T c.2562C>T (p.Phe854=) c.2559C>T (p.Phe853=) c.870C>T (p.Phe290=) | |
| 1 | g.99884633A>C | CA341321735 | AGL | c.2611A>C (p.Ser871Arg) n.2822A>C c.2563A>C (p.Ser855Arg) c.2560A>C (p.Ser854Arg) c.871A>C (p.Ser291Arg) | |
| 1 | g.99884633A>G | CA341321736 | AGL | c.2611A>G (p.Ser871Gly) n.2822A>G c.2563A>G (p.Ser855Gly) c.2560A>G (p.Ser854Gly) c.871A>G (p.Ser291Gly) | |
| 1 | g.99884633A>T | CA341321738 | AGL | c.2611A>T (p.Ser871Cys) n.2822A>T c.2563A>T (p.Ser855Cys) c.2560A>T (p.Ser854Cys) c.871A>T (p.Ser291Cys) | |
| 1 | g.99884634G>A | CA341321740 | AGL | c.2612G>A (p.Ser871Asn) n.2823G>A c.2564G>A (p.Ser855Asn) c.2561G>A (p.Ser854Asn) c.872G>A (p.Ser291Asn) | ClinVar |
| 1 | g.99884634G>C | CA341321742 | AGL | c.2612G>C (p.Ser871Thr) n.2823G>C c.2564G>C (p.Ser855Thr) c.2561G>C (p.Ser854Thr) c.872G>C (p.Ser291Thr) | |
| 1 | g.99884634G>T | CA341321743 | AGL | c.2612G>T (p.Ser871Ile) n.2823G>T c.2564G>T (p.Ser855Ile) c.2561G>T (p.Ser854Ile) c.872G>T (p.Ser291Ile) | COSMIC |
| 1 | g.99884635T>A | CA341321745 | AGL | c.2613T>A (p.Ser871Arg) n.2824T>A c.2565T>A (p.Ser855Arg) c.2562T>A (p.Ser854Arg) c.873T>A (p.Ser291Arg) | |
| 1 | g.99884635T>C | CA419083649 | AGL | c.2613T>C (p.Ser871=) n.2824T>C c.2565T>C (p.Ser855=) c.2562T>C (p.Ser854=) c.873T>C (p.Ser291=) | |
| 1 | g.99884635T>G | CA341321744 | AGL | c.2613T>G (p.Ser871Arg) n.2824T>G c.2565T>G (p.Ser855Arg) c.2562T>G (p.Ser854Arg) c.873T>G (p.Ser291Arg) | |
| 1 | g.99884636C>A | CA341321746 | AGL | c.2614C>A (p.Pro872Thr) n.2825C>A c.2566C>A (p.Pro856Thr) c.2563C>A (p.Pro855Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
| 1 | g.99884636C>G | CA341321748 | AGL | c.2614C>G (p.Pro872Ala) n.2825C>G c.2566C>G (p.Pro856Ala) c.2563C>G (p.Pro855Ala) c.874C>G (p.Pro292Ala) | |
| 1 | g.99884636C>T | CA341321750 | AGL | c.2614C>T (p.Pro872Ser) n.2825C>T c.2566C>T (p.Pro856Ser) c.2563C>T (p.Pro855Ser) c.874C>T (p.Pro292Ser) | ClinVar |
| 1 | g.99884637C>A | CA341321752 | AGL | c.2615C>A (p.Pro872His) n.2826C>A c.2567C>A (p.Pro856His) c.2564C>A (p.Pro855His) c.875C>A (p.Pro292His) | |
| 1 | g.99884637C= | CA1183930645 | AGL | c.2615C= (p.Pro872=) n.2826C= c.2567C= (p.Pro856=) c.2564C= (p.Pro855=) c.875C= (p.Pro292=) | |
| 1 | g.99884637C>G | CA341321754 | AGL | c.2615C>G (p.Pro872Arg) n.2826C>G c.2567C>G (p.Pro856Arg) c.2564C>G (p.Pro855Arg) c.875C>G (p.Pro292Arg) | |
| 1 | g.99884637C>T | CA966840 | AGL | c.2615C>T (p.Pro872Leu) n.2826C>T c.2567C>T (p.Pro856Leu) c.2564C>T (p.Pro855Leu) c.875C>T (p.Pro292Leu) | dbSNP ExAC gnomAD v4 |
| 1 | g.99884638T>A | CA419083661 | AGL | c.2616T>A (p.Pro872=) n.2827T>A c.2568T>A (p.Pro856=) c.2565T>A (p.Pro855=) c.876T>A (p.Pro292=) | |
| 1 | g.99884638T>C | CA419083664 | AGL | c.2616T>C (p.Pro872=) n.2827T>C c.2568T>C (p.Pro856=) c.2565T>C (p.Pro855=) c.876T>C (p.Pro292=) | |
| 1 | g.99884638T>G | CA419083666 | AGL | c.2616T>G (p.Pro872=) n.2827T>G c.2568T>G (p.Pro856=) c.2565T>G (p.Pro855=) c.876T>G (p.Pro292=) | |
| 1 | g.99884639C>A | CA341321762 | AGL | c.2617C>A (p.His873Asn) n.2828C>A c.2569C>A (p.His857Asn) c.2566C>A (p.His856Asn) c.877C>A (p.His293Asn) | gnomAD v4 |
| 1 | g.99884639C>G | CA341321758 | AGL | c.2617C>G (p.His873Asp) n.2828C>G c.2569C>G (p.His857Asp) c.2566C>G (p.His856Asp) c.877C>G (p.His293Asp) | |
| 1 | g.99884639C>T | CA341321760 | AGL | c.2617C>T (p.His873Tyr) n.2828C>T c.2569C>T (p.His857Tyr) c.2566C>T (p.His856Tyr) c.877C>T (p.His293Tyr) | gnomAD v4 |
| 1 | g.99884640A= | CA1183930646 | AGL | c.2618A= (p.His873=) n.2829A= c.2570A= (p.His857=) c.2567A= (p.His856=) c.878A= (p.His293=) | |
| 1 | g.99884640A>C | CA341321765 | AGL | c.2618A>C (p.His873Pro) n.2829A>C c.2570A>C (p.His857Pro) c.2567A>C (p.His856Pro) c.878A>C (p.His293Pro) | |
| 1 | g.99884640A>G | CA27519529 | AGL | c.2618A>G (p.His873Arg) n.2829A>G c.2570A>G (p.His857Arg) c.2567A>G (p.His856Arg) c.878A>G (p.His293Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884640A>T | CA341321769 | AGL | c.2618A>T (p.His873Leu) n.2829A>T c.2570A>T (p.His857Leu) c.2567A>T (p.His856Leu) c.878A>T (p.His293Leu) | |
| 1 | g.99884641C>A | CA341321771 | AGL | c.2619C>A (p.His873Gln) n.2830C>A c.2571C>A (p.His857Gln) c.2568C>A (p.His856Gln) c.879C>A (p.His293Gln) | |
| 1 | g.99884641C>G | CA341321772 | AGL | c.2619C>G (p.His873Gln) n.2830C>G c.2571C>G (p.His857Gln) c.2568C>G (p.His856Gln) c.879C>G (p.His293Gln) | |
| 1 | g.99884641C>T | CA419083672 | AGL | c.2619C>T (p.His873=) n.2830C>T c.2571C>T (p.His857=) c.2568C>T (p.His856=) c.879C>T (p.His293=) | gnomAD v4 |