| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84839706_84839709del | CA2697549429 | ALPK3 | c.427_430del (p.Arg143LysfsTer29) c.1033_1036del (p.Arg345LysfsTer29) | |
| 15 | g.84839707G>A | CA273664918 | ALPK3 | c.428G>A (p.Arg143Gln) c.1034G>A (p.Arg345Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84839707G>C | CA393372449 | ALPK3 | c.428G>C (p.Arg143Pro) c.1034G>C (p.Arg345Pro) | ClinVar |
| 15 | g.84839707G= | CA2192416534 | ALPK3 | c.428G= (p.Arg143=) c.1034G= (p.Arg345=) | |
| 15 | g.84839707G>T | CA393372448 | ALPK3 | c.428G>T (p.Arg143Leu) c.1034G>T (p.Arg345Leu) | |
| 15 | g.84839708A>C | CA492276920 | ALPK3 | c.429A>C (p.Arg143=) c.1035A>C (p.Arg345=) | |
| 15 | g.84839708A>G | CA492276923 | ALPK3 | c.429A>G (p.Arg143=) c.1035A>G (p.Arg345=) | |
| 15 | g.84839708A>T | CA492276921 | ALPK3 | c.429A>T (p.Arg143=) c.1035A>T (p.Arg345=) | |
| 15 | g.84839714_84839716del | CA2630109254 | ALPK3 | c.435_437del (p.Glu145del) c.1041_1043del (p.Glu347del) | gnomAD v4 |
| 15 | g.84839709G>A | CA393372450 | ALPK3 | c.430G>A (p.Glu144Lys) c.1036G>A (p.Glu346Lys) | dbSNP |
| 15 | g.84839709G>C | CA393372452 | ALPK3 | c.430G>C (p.Glu144Gln) c.1036G>C (p.Glu346Gln) | |
| 15 | g.84839709G= | CA2192416538 | ALPK3 | c.430G= (p.Glu144=) c.1036G= (p.Glu346=) | |
| 15 | g.84839709G>T | CA393372451 | ALPK3 | c.430G>T (p.Glu144Ter) c.1036G>T (p.Glu346Ter) | |
| 15 | g.84839710A>C | CA393372453 | ALPK3 | c.431A>C (p.Glu144Ala) c.1037A>C (p.Glu346Ala) | |
| 15 | g.84839710A>G | CA393372454 | ALPK3 | c.431A>G (p.Glu144Gly) c.1037A>G (p.Glu346Gly) | ClinVar |
| 15 | g.84839710A>T | CA393372455 | ALPK3 | c.431A>T (p.Glu144Val) c.1037A>T (p.Glu346Val) | |
| 15 | g.84839711_84839714dup | CA2580613303 | ALPK3 | c.432_435dup (p.Asp146ArgfsTer30) c.1038_1041dup (p.Asp348ArgfsTer30) | |
| 15 | g.84839711A>C | CA393372456 | ALPK3 | c.432A>C (p.Glu144Asp) c.1038A>C (p.Glu346Asp) | |
| 15 | g.84839711A>G | CA492276927 | ALPK3 | c.432A>G (p.Glu144=) c.1038A>G (p.Glu346=) | |
| 15 | g.84839711A>T | CA393372457 | ALPK3 | c.432A>T (p.Glu144Asp) c.1038A>T (p.Glu346Asp) | |
| 15 | g.84839712G>A | CA393372458 | ALPK3 | c.433G>A (p.Glu145Lys) c.1039G>A (p.Glu347Lys) | |
| 15 | g.84839712G>C | CA393372459 | ALPK3 | c.433G>C (p.Glu145Gln) c.1039G>C (p.Glu347Gln) | |
| 15 | g.84839712G>T | CA393372460 | ALPK3 | c.433G>T (p.Glu145Ter) c.1039G>T (p.Glu347Ter) | |
| 15 | g.84839713A>C | CA393372461 | ALPK3 | c.434A>C (p.Glu145Ala) c.1040A>C (p.Glu347Ala) | |
| 15 | g.84839713A>G | CA393372462 | ALPK3 | c.434A>G (p.Glu145Gly) c.1040A>G (p.Glu347Gly) | |
| 15 | g.84839713A>T | CA393372463 | ALPK3 | c.434A>T (p.Glu145Val) c.1040A>T (p.Glu347Val) | ClinVar dbSNP |
| 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) | 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 |