Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84839720C>A | CA492276942 | ALPK3 | c.441C>A (p.Ala147=) c.1047C>A (p.Ala349=) | |
15 | g.84839720C>G | CA492276943 | ALPK3 | c.441C>G (p.Ala147=) c.1047C>G (p.Ala349=) | |
15 | g.84839720C>T | CA492276944 | ALPK3 | c.441C>T (p.Ala147=) c.1047C>T (p.Ala349=) | ClinVar |
15 | g.84839721_84839722dup | CA2630109255 | ALPK3 | c.442_443dup (p.Ile149ProfsTer25) c.1048_1049dup (p.Ile351ProfsTer25) | gnomAD v4 |
15 | g.84839721G>A | CA393372480 | ALPK3 | c.442G>A (p.Ala148Thr) c.1048G>A (p.Ala350Thr) | ClinVar dbSNP gnomAD v4 |
15 | g.84839721G>C | CA393372481 | ALPK3 | c.442G>C (p.Ala148Pro) c.1048G>C (p.Ala350Pro) | |
15 | g.84839721G= | CA2192416551 | ALPK3 | c.442G= (p.Ala148=) c.1048G= (p.Ala350=) | |
15 | g.84839721G>T | CA393372482 | ALPK3 | c.442G>T (p.Ala148Ser) c.1048G>T (p.Ala350Ser) | gnomAD v4 |
15 | g.84839722C>A | CA393372483 | ALPK3 | c.443C>A (p.Ala148Asp) c.1049C>A (p.Ala350Asp) | |
15 | g.84839722C>G | CA393372484 | ALPK3 | c.443C>G (p.Ala148Gly) c.1049C>G (p.Ala350Gly) | |
15 | g.84839722C>T | CA393372485 | ALPK3 | c.443C>T (p.Ala148Val) c.1049C>T (p.Ala350Val) | COSMIC COSMIC |
15 | g.84839723C>A | CA492276951 | ALPK3 | c.444C>A (p.Ala148=) c.1050C>A (p.Ala350=) | |
15 | g.84839723C= | CA2192416555 | ALPK3 | c.444C= (p.Ala148=) c.1050C= (p.Ala350=) | |
15 | g.84839723C>G | CA7708982 | ALPK3 | c.444C>G (p.Ala148=) c.1050C>G (p.Ala350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84839723C>T | CA492276952 | ALPK3 | c.444C>T (p.Ala148=) c.1050C>T (p.Ala350=) | |
15 | g.84839724A>C | CA393372486 | ALPK3 | c.445A>C (p.Ile149Leu) c.1051A>C (p.Ile351Leu) | |
15 | g.84839724A>G | CA393372488 | ALPK3 | c.445A>G (p.Ile149Val) c.1051A>G (p.Ile351Val) | gnomAD v4 |
15 | g.84839724A>T | CA393372487 | ALPK3 | c.445A>T (p.Ile149Phe) c.1051A>T (p.Ile351Phe) | |
15 | g.84839725T>A | CA393372489 | ALPK3 | c.446T>A (p.Ile149Asn) c.1052T>A (p.Ile351Asn) | |
15 | g.84839725T>C | CA7708983 | ALPK3 | c.446T>C (p.Ile149Thr) c.1052T>C (p.Ile351Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84839725T>G | CA393372490 | ALPK3 | c.446T>G (p.Ile149Ser) c.1052T>G (p.Ile351Ser) | |
15 | g.84839725T= | CA2192416558 | ALPK3 | c.446T= (p.Ile149=) c.1052T= (p.Ile351=) | |
15 | g.84839726C>A | CA492276956 | ALPK3 | c.447C>A (p.Ile149=) c.1053C>A (p.Ile351=) | |
15 | g.84839726C= | CA2192416559 | ALPK3 | c.447C= (p.Ile149=) c.1053C= (p.Ile351=) | |
15 | g.84839726C>G | CA393372491 | ALPK3 | c.447C>G (p.Ile149Met) c.1053C>G (p.Ile351Met) | |
15 | g.84839726C>T | CA492276958 | ALPK3 | c.447C>T (p.Ile149=) c.1053C>T (p.Ile351=) | dbSNP |
15 | g.84839727T>A | CA393372492 | ALPK3 | c.448T>A (p.Tyr150Asn) c.1054T>A (p.Tyr352Asn) | |
15 | g.84839727T>C | CA273664932 | ALPK3 | c.448T>C (p.Tyr150His) c.1054T>C (p.Tyr352His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84839727T>G | CA393372493 | ALPK3 | c.448T>G (p.Tyr150Asp) c.1054T>G (p.Tyr352Asp) | |
15 | g.84839727T= | CA2192416562 | ALPK3 | c.448T= (p.Tyr150=) c.1054T= (p.Tyr352=) | |
15 | g.84839728A>C | CA393372494 | ALPK3 | c.449A>C (p.Tyr150Ser) c.1055A>C (p.Tyr352Ser) | |
15 | g.84839728A>G | CA393372495 | ALPK3 | c.449A>G (p.Tyr150Cys) c.1055A>G (p.Tyr352Cys) | |
15 | g.84839728A>T | CA393372496 | ALPK3 | c.449A>T (p.Tyr150Phe) c.1055A>T (p.Tyr352Phe) | |
15 | g.84839729C>A | CA393372497 | ALPK3 | c.450C>A (p.Tyr150Ter) c.1056C>A (p.Tyr352Ter) | |
15 | g.84839729C>G | CA393372498 | ALPK3 | c.450C>G (p.Tyr150Ter) c.1056C>G (p.Tyr352Ter) | |
15 | g.84839729C>T | CA492276961 | ALPK3 | c.450C>T (p.Tyr150=) c.1056C>T (p.Tyr352=) | |
15 | g.84839730C>A | CA393372499 | ALPK3 | c.451C>A (p.Gln151Lys) c.1057C>A (p.Gln353Lys) | |
15 | g.84839730C>G | CA393372500 | ALPK3 | c.451C>G (p.Gln151Glu) c.1057C>G (p.Gln353Glu) | |
15 | g.84839730C>T | CA393372501 | ALPK3 | c.451C>T (p.Gln151Ter) c.1057C>T (p.Gln353Ter) | |
15 | g.84839731A>C | CA393372502 | ALPK3 | c.452A>C (p.Gln151Pro) c.1058A>C (p.Gln353Pro) | |
15 | g.84839731A>G | CA393372503 | ALPK3 | c.452A>G (p.Gln151Arg) c.1058A>G (p.Gln353Arg) | |
15 | g.84839731A>T | CA393372504 | ALPK3 | c.452A>T (p.Gln151Leu) c.1058A>T (p.Gln353Leu) | |
15 | g.84839732G>A | CA7708984 | ALPK3 | c.453G>A (p.Gln151=) c.1059G>A (p.Gln353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84839732G>C | CA393372506 | ALPK3 | c.453G>C (p.Gln151His) c.1059G>C (p.Gln353His) | |
15 | g.84839732G= | CA2192416566 | ALPK3 | c.453G= (p.Gln151=) c.1059G= (p.Gln353=) | |
15 | g.84839732G>T | CA393372505 | ALPK3 | c.453G>T (p.Gln151His) c.1059G>T (p.Gln353His) | |
15 | g.84839733G>A | CA393372508 | ALPK3 | c.454G>A (p.Ala152Thr) c.1060G>A (p.Ala354Thr) | gnomAD v4 |
15 | g.84839733G>C | CA393372507 | ALPK3 | c.454G>C (p.Ala152Pro) c.1060G>C (p.Ala354Pro) | |
15 | g.84839733G>T | CA393372509 | ALPK3 | c.454G>T (p.Ala152Ser) c.1060G>T (p.Ala354Ser) | |
15 | g.84839734C>A | CA393372510 | ALPK3 | c.455C>A (p.Ala152Asp) c.1061C>A (p.Ala354Asp) |