Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84839714_84839716del | CA2630109254 | ALPK3 | c.435_437del (p.Glu145del) c.1041_1043del (p.Glu347del) | gnomAD v4 |
15 | g.84839711_84839714dup | CA2580613303 | ALPK3 | c.432_435dup (p.Asp146ArgfsTer30) c.1038_1041dup (p.Asp348ArgfsTer30) | ClinVar |
15 | g.84839714A>C | CA393372464 | ALPK3 | c.435A>C (p.Glu145Asp) c.1041A>C (p.Glu347Asp) | |
15 | g.84839714A>G | CA492276934 | ALPK3 | c.435A>G (p.Glu145=) c.1041A>G (p.Glu347=) | |
15 | g.84839714A>T | CA393372465 | ALPK3 | c.435A>T (p.Glu145Asp) c.1041A>T (p.Glu347Asp) | |
15 | g.84839715G>A | CA393372466 | ALPK3 | c.436G>A (p.Asp146Asn) c.1042G>A (p.Asp348Asn) | |
15 | g.84839715G>C | CA393372468 | ALPK3 | c.436G>C (p.Asp146His) c.1042G>C (p.Asp348His) | |
15 | g.84839715G>T | CA393372467 | ALPK3 | c.436G>T (p.Asp146Tyr) c.1042G>T (p.Asp348Tyr) | |
15 | g.84839716A>C | CA393372469 | ALPK3 | c.437A>C (p.Asp146Ala) c.1043A>C (p.Asp348Ala) | |
15 | g.84839716A>G | CA393372470 | ALPK3 | c.437A>G (p.Asp146Gly) c.1043A>G (p.Asp348Gly) | |
15 | g.84839716A>T | CA393372471 | ALPK3 | c.437A>T (p.Asp146Val) c.1043A>T (p.Asp348Val) | |
15 | g.84839717T>A | CA393372472 | ALPK3 | c.438T>A (p.Asp146Glu) c.1044T>A (p.Asp348Glu) | |
15 | g.84839717T>C | CA7708981 | ALPK3 | c.438T>C (p.Asp146=) c.1044T>C (p.Asp348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84839717T>G | CA393372473 | ALPK3 | c.438T>G (p.Asp146Glu) c.1044T>G (p.Asp348Glu) | |
15 | g.84839717T= | CA2192416542 | ALPK3 | c.438T= (p.Asp146=) c.1044T= (p.Asp348=) | |
15 | g.84839718G>A | CA393372474 | ALPK3 | c.439G>A (p.Ala147Thr) c.1045G>A (p.Ala349Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84839718G>C | CA393372475 | ALPK3 | c.439G>C (p.Ala147Pro) c.1045G>C (p.Ala349Pro) | |
15 | g.84839718G= | CA2192416548 | ALPK3 | c.439G= (p.Ala147=) c.1045G= (p.Ala349=) | |
15 | g.84839718G>T | CA393372476 | ALPK3 | c.439G>T (p.Ala147Ser) c.1045G>T (p.Ala349Ser) | ClinVar gnomAD v4 |
15 | g.84839719C>A | CA393372479 | ALPK3 | c.440C>A (p.Ala147Asp) c.1046C>A (p.Ala349Asp) | gnomAD v4 |
15 | g.84839719C>G | CA393372478 | ALPK3 | c.440C>G (p.Ala147Gly) c.1046C>G (p.Ala349Gly) | |
15 | g.84839719C>T | CA393372477 | ALPK3 | c.440C>T (p.Ala147Val) c.1046C>T (p.Ala349Val) | gnomAD v4 |
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 |