| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84839806_84839807delinsAG | CA2192416645 | ALPK3 | c.527_528delinsAG (p.Lys176=) c.1133_1134delinsAG (p.Lys378=) | |
| 15 | g.84839807del | CA16620013 | ALPK3 | c.528del (p.Ile177SerfsTer9) c.1134del (p.Ile379SerfsTer9) | ClinVar dbSNP |
| 15 | g.84839807G>A | CA492277103 | ALPK3 | c.528G>A (p.Lys176=) c.1134G>A (p.Lys378=) | gnomAD v4 |
| 15 | g.84839807G>C | CA393372768 | ALPK3 | c.528G>C (p.Lys176Asn) c.1134G>C (p.Lys378Asn) | |
| 15 | g.84839807G= | CA2192416654 | ALPK3 | c.528G= (p.Lys176=) c.1134G= (p.Lys378=) | |
| 15 | g.84839807G>T | CA393372769 | ALPK3 | c.528G>T (p.Lys176Asn) c.1134G>T (p.Lys378Asn) | dbSNP |
| 15 | g.84839808A>C | CA393372772 | ALPK3 | c.529A>C (p.Ile177Leu) c.1135A>C (p.Ile379Leu) | |
| 15 | g.84839808A>G | CA393372773 | ALPK3 | c.529A>G (p.Ile177Val) c.1135A>G (p.Ile379Val) | gnomAD v4 |
| 15 | g.84839808A>T | CA393372774 | ALPK3 | c.529A>T (p.Ile177Phe) c.1135A>T (p.Ile379Phe) | |
| 15 | g.84839809T>A | CA393372777 | ALPK3 | c.530T>A (p.Ile177Asn) c.1136T>A (p.Ile379Asn) | |
| 15 | g.84839809T>C | CA393372779 | ALPK3 | c.530T>C (p.Ile177Thr) c.1136T>C (p.Ile379Thr) | |
| 15 | g.84839809T>G | CA393372780 | ALPK3 | c.530T>G (p.Ile177Ser) c.1136T>G (p.Ile379Ser) | |
| 15 | g.84839810C>A | CA492277111 | ALPK3 | c.531C>A (p.Ile177=) c.1137C>A (p.Ile379=) | |
| 15 | g.84839810C= | CA2192416656 | ALPK3 | c.531C= (p.Ile177=) c.1137C= (p.Ile379=) | |
| 15 | g.84839810C>G | CA393372782 | ALPK3 | c.531C>G (p.Ile177Met) c.1137C>G (p.Ile379Met) | |
| 15 | g.84839810C>T | CA492277112 | ALPK3 | c.531C>T (p.Ile177=) c.1137C>T (p.Ile379=) | dbSNP |
| 15 | g.84839811del | CA2630109256 | ALPK3 | c.532del (p.His178ThrfsTer8) c.1138del (p.His380ThrfsTer8) | gnomAD v4 |
| 15 | g.84839811C>A | CA393372785 | ALPK3 | c.532C>A (p.His178Asn) c.1138C>A (p.His380Asn) | |
| 15 | g.84839811C= | CA2192416660 | ALPK3 | c.532C= (p.His178=) c.1138C= (p.His380=) | |
| 15 | g.84839811C>G | CA393372786 | ALPK3 | c.532C>G (p.His178Asp) c.1138C>G (p.His380Asp) | |
| 15 | g.84839811C>T | CA273664992 | ALPK3 | c.532C>T (p.His178Tyr) c.1138C>T (p.His380Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84839812A>C | CA393372792 | ALPK3 | c.533A>C (p.His178Pro) c.1139A>C (p.His380Pro) | |
| 15 | g.84839812A>G | CA393372789 | ALPK3 | c.533A>G (p.His178Arg) c.1139A>G (p.His380Arg) | gnomAD v4 |
| 15 | g.84839812A>T | CA393372790 | ALPK3 | c.533A>T (p.His178Leu) c.1139A>T (p.His380Leu) | |
| 15 | g.84839813C>A | CA393372795 | ALPK3 | c.534C>A (p.His178Gln) c.1140C>A (p.His380Gln) | |
| 15 | g.84839813C>G | CA393372796 | ALPK3 | c.534C>G (p.His178Gln) c.1140C>G (p.His380Gln) | |
| 15 | g.84839813C>T | CA492277119 | ALPK3 | c.534C>T (p.His178=) c.1140C>T (p.His380=) | gnomAD v4 |
| 15 | g.84839814C>A | CA393372799 | ALPK3 | c.535C>A (p.Gln179Lys) c.1141C>A (p.Gln381Lys) | |
| 15 | g.84839814C= | CA2192416663 | ALPK3 | c.535C= (p.Gln179=) c.1141C= (p.Gln381=) | |
| 15 | g.84839814C>G | CA393372800 | ALPK3 | c.535C>G (p.Gln179Glu) c.1141C>G (p.Gln381Glu) | |
| 15 | g.84839814C>T | CA393372802 | ALPK3 | c.535C>T (p.Gln179Ter) c.1141C>T (p.Gln381Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84839815A>C | CA393372804 | ALPK3 | c.536A>C (p.Gln179Pro) c.1142A>C (p.Gln381Pro) | |
| 15 | g.84839815A>G | CA393372806 | ALPK3 | c.536A>G (p.Gln179Arg) c.1142A>G (p.Gln381Arg) | |
| 15 | g.84839815A>T | CA393372807 | ALPK3 | c.536A>T (p.Gln179Leu) c.1142A>T (p.Gln381Leu) | |
| 15 | g.84839816G>A | CA492277123 | ALPK3 | c.537G>A (p.Gln179=) c.1143G>A (p.Gln381=) | |
| 15 | g.84839816G>C | CA393372809 | ALPK3 | c.537G>C (p.Gln179His) c.1143G>C (p.Gln381His) | |
| 15 | g.84839816G>T | CA393372811 | ALPK3 | c.537G>T (p.Gln179His) c.1143G>T (p.Gln381His) | |
| 15 | g.84839817C>A | CA393372816 | ALPK3 | c.538C>A (p.Arg180Ser) c.1144C>A (p.Arg382Ser) | dbSNP |
| 15 | g.84839817C= | CA2192416667 | ALPK3 | c.538C= (p.Arg180=) c.1144C= (p.Arg382=) | |
| 15 | g.84839817C>G | CA393372815 | ALPK3 | c.538C>G (p.Arg180Gly) c.1144C>G (p.Arg382Gly) | dbSNP |
| 15 | g.84839817C>T | CA393372813 | ALPK3 | c.538C>T (p.Arg180Cys) c.1144C>T (p.Arg382Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84839818G>A | CA7708993 | ALPK3 | c.539G>A (p.Arg180His) c.1145G>A (p.Arg382His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84839818G>C | CA393372818 | ALPK3 | c.539G>C (p.Arg180Pro) c.1145G>C (p.Arg382Pro) | |
| 15 | g.84839818G= | CA2192416672 | ALPK3 | c.539G= (p.Arg180=) c.1145G= (p.Arg382=) | |
| 15 | g.84839818G>T | CA393372820 | ALPK3 | c.539G>T (p.Arg180Leu) c.1145G>T (p.Arg382Leu) | |
| 15 | g.84839819C>A | CA492277131 | ALPK3 | c.540C>A (p.Arg180=) c.1146C>A (p.Arg382=) | ClinVar gnomAD v4 |
| 15 | g.84839819C>G | CA492277130 | ALPK3 | c.540C>G (p.Arg180=) c.1146C>G (p.Arg382=) | |
| 15 | g.84839819C>T | CA492277128 | ALPK3 | c.540C>T (p.Arg180=) c.1146C>T (p.Arg382=) | gnomAD v4 |
| 15 | g.84839820T>A | CA393372822 | ALPK3 | c.541T>A (p.Trp181Arg) c.1147T>A (p.Trp383Arg) | |
| 15 | g.84839820T>C | CA393372823 | ALPK3 | c.541T>C (p.Trp181Arg) c.1147T>C (p.Trp383Arg) |