Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
15 | g.84839820T>G | CA393372825 | ALPK3 | c.541T>G (p.Trp181Gly) c.1147T>G (p.Trp383Gly) | |
15 | g.84839821G>A | CA393372831 | ALPK3 | c.542G>A (p.Trp181Ter) c.1148G>A (p.Trp383Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84839821G>C | CA393372829 | ALPK3 | c.542G>C (p.Trp181Ser) c.1148G>C (p.Trp383Ser) | ClinVar dbSNP gnomAD v4 |
15 | g.84839821G= | CA2192416674 | ALPK3 | c.542G= (p.Trp181=) c.1148G= (p.Trp383=) | |
15 | g.84839821G>T | CA393372828 | ALPK3 | c.542G>T (p.Trp181Leu) c.1148G>T (p.Trp383Leu) | |
15 | g.84839822G>A | CA393372833 | ALPK3 | c.543G>A (p.Trp181Ter) c.1149G>A (p.Trp383Ter) | |
15 | g.84839822G>C | CA393372834 | ALPK3 | c.543G>C (p.Trp181Cys) c.1149G>C (p.Trp383Cys) | gnomAD v4 |
15 | g.84839822G>T | CA393372836 | ALPK3 | c.543G>T (p.Trp181Cys) c.1149G>T (p.Trp383Cys) | gnomAD v4 |
15 | g.84839823T>A | CA393372839 | ALPK3 | c.544T>A (p.Phe182Ile) c.1150T>A (p.Phe384Ile) | |
15 | g.84839823T>C | CA393372840 | ALPK3 | c.544T>C (p.Phe182Leu) c.1150T>C (p.Phe384Leu) | gnomAD v4 |
15 | g.84839823T>G | CA393372842 | ALPK3 | c.544T>G (p.Phe182Val) c.1150T>G (p.Phe384Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84839823T= | CA2192416677 | ALPK3 | c.544T= (p.Phe182=) c.1150T= (p.Phe384=) | |
15 | g.84839824T>A | CA393372844 | ALPK3 | c.545T>A (p.Phe182Tyr) c.1151T>A (p.Phe384Tyr) | |
15 | g.84839824T>C | CA393372848 | ALPK3 | c.545T>C (p.Phe182Ser) c.1151T>C (p.Phe384Ser) | |
15 | g.84839824T>G | CA393372846 | ALPK3 | c.545T>G (p.Phe182Cys) c.1151T>G (p.Phe384Cys) | |
15 | g.84839825C>A | CA7708994 | ALPK3 | c.546C>A (p.Phe182Leu) c.1152C>A (p.Phe384Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84839825C= | CA2192416680 | ALPK3 | c.546C= (p.Phe182=) c.1152C= (p.Phe384=) | |
15 | g.84839825C>G | CA393372851 | ALPK3 | c.546C>G (p.Phe182Leu) c.1152C>G (p.Phe384Leu) | |
15 | g.84839825C>T | CA492277140 | ALPK3 | c.546C>T (p.Phe182=) c.1152C>T (p.Phe384=) | gnomAD v4 COSMIC COSMIC |
15 | g.84839826G>A | CA393372853 | ALPK3 | c.547G>A (p.Ala183Thr) c.1153G>A (p.Ala385Thr) | gnomAD v4 |
15 | g.84839826G>C | CA393372855 | ALPK3 | c.547G>C (p.Ala183Pro) c.1153G>C (p.Ala385Pro) | |
15 | g.84839826G>T | CA393372857 | ALPK3 | c.547G>T (p.Ala183Ser) c.1153G>T (p.Ala385Ser) | |
15 | g.84839827C>A | CA393372860 | ALPK3 | c.548C>A (p.Ala183Asp) c.1154C>A (p.Ala385Asp) | |
15 | g.84839827C>G | CA393372861 | ALPK3 | c.548C>G (p.Ala183Gly) c.1154C>G (p.Ala385Gly) | |
15 | g.84839827C>T | CA393372863 | ALPK3 | c.548C>T (p.Ala183Val) c.1154C>T (p.Ala385Val) | |
15 | g.84839828C>A | CA492277142 | ALPK3 | c.549C>A (p.Ala183=) c.1155C>A (p.Ala385=) | |
15 | g.84839828C= | CA2192416682 | ALPK3 | c.549C= (p.Ala183=) c.1155C= (p.Ala385=) | |
15 | g.84839828C>G | CA492277143 | ALPK3 | c.549C>G (p.Ala183=) c.1155C>G (p.Ala385=) | ClinVar |
15 | g.84839828C>T | CA273665016 | ALPK3 | c.549C>T (p.Ala183=) c.1155C>T (p.Ala385=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84839829A= | CA2192416685 | ALPK3 | c.550A= (p.Lys184=) c.1156A= (p.Lys386=) | |
15 | g.84839829A>C | CA393372864 | ALPK3 | c.550A>C (p.Lys184Gln) c.1156A>C (p.Lys386Gln) | dbSNP gnomAD v3 gnomAD v4 |