| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84840272del | CA2630109267 | ALPK3 | c.993del (p.Glu331AspfsTer2) c.1599del (p.Glu533AspfsTer2) | gnomAD v4 |
| 15 | g.84840272G>A | CA492277418 | ALPK3 | c.993G>A (p.Glu331=) c.1599G>A (p.Glu533=) | |
| 15 | g.84840272G>C | CA393374020 | ALPK3 | c.993G>C (p.Glu331Asp) c.1599G>C (p.Glu533Asp) | dbSNP |
| 15 | g.84840272G= | CA2192368270 | ALPK3 | c.993G= (p.Glu331=) c.1599G= (p.Glu533=) | |
| 15 | g.84840272G>T | CA393374022 | ALPK3 | c.993G>T (p.Glu331Asp) c.1599G>T (p.Glu533Asp) | |
| 15 | g.84840273T>A | CA393374024 | ALPK3 | c.994T>A (p.Leu332Ile) c.1600T>A (p.Leu534Ile) | |
| 15 | g.84840273T>C | CA492277422 | ALPK3 | c.994T>C (p.Leu332=) c.1600T>C (p.Leu534=) | |
| 15 | g.84840273T>G | CA393374026 | ALPK3 | c.994T>G (p.Leu332Val) c.1600T>G (p.Leu534Val) | ClinVar |
| 15 | g.84840274T>A | CA393374032 | ALPK3 | c.995T>A (p.Leu332Ter) c.1601T>A (p.Leu534Ter) | |
| 15 | g.84840274T>C | CA393374030 | ALPK3 | c.995T>C (p.Leu332Ser) c.1601T>C (p.Leu534Ser) | |
| 15 | g.84840274T>G | CA393374028 | ALPK3 | c.995T>G (p.Leu332Ter) c.1601T>G (p.Leu534Ter) | |
| 15 | g.84840275A>C | CA393374033 | ALPK3 | c.996A>C (p.Leu332Phe) c.1602A>C (p.Leu534Phe) | |
| 15 | g.84840275A>G | CA492277427 | ALPK3 | c.996A>G (p.Leu332=) c.1602A>G (p.Leu534=) | ClinVar |
| 15 | g.84840275A>T | CA393374034 | ALPK3 | c.996A>T (p.Leu332Phe) c.1602A>T (p.Leu534Phe) | |
| 15 | g.84840276G>A | CA393374036 | ALPK3 | c.997G>A (p.Glu333Lys) c.1603G>A (p.Glu535Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840276G>C | CA393374038 | ALPK3 | c.997G>C (p.Glu333Gln) c.1603G>C (p.Glu535Gln) | gnomAD v4 |
| 15 | g.84840276G= | CA2192368271 | ALPK3 | c.997G= (p.Glu333=) c.1603G= (p.Glu535=) | |
| 15 | g.84840276G>T | CA393374039 | ALPK3 | c.997G>T (p.Glu333Ter) c.1603G>T (p.Glu535Ter) | |
| 15 | g.84840277A= | CA2192368272 | ALPK3 | c.998A= (p.Glu333=) c.1604A= (p.Glu535=) | |
| 15 | g.84840277A>C | CA393374042 | ALPK3 | c.998A>C (p.Glu333Ala) c.1604A>C (p.Glu535Ala) | |
| 15 | g.84840277A>G | CA393374044 | ALPK3 | c.998A>G (p.Glu333Gly) c.1604A>G (p.Glu535Gly) | |
| 15 | g.84840277A>T | CA393374045 | ALPK3 | c.998A>T (p.Glu333Val) c.1604A>T (p.Glu535Val) | dbSNP gnomAD v2 |
| 15 | g.84840278del | CA2630109268 | ALPK3 | c.999del (p.Lys334ArgfsTer?) c.1605del (p.Lys536ArgfsTer?) | gnomAD v4 |
| 15 | g.84840278G>A | CA492277434 | ALPK3 | c.999G>A (p.Glu333=) c.1605G>A (p.Glu535=) | |
| 15 | g.84840278G>C | CA393374046 | ALPK3 | c.999G>C (p.Glu333Asp) c.1605G>C (p.Glu535Asp) | |
| 15 | g.84840278G>T | CA393374048 | ALPK3 | c.999G>T (p.Glu333Asp) c.1605G>T (p.Glu535Asp) | |
| 15 | g.84840279A= | CA2192368273 | ALPK3 | c.1000A= (p.Lys334=) c.1606A= (p.Lys536=) | |
| 15 | g.84840279A>C | CA393374050 | ALPK3 | c.1000A>C (p.Lys334Gln) c.1606A>C (p.Lys536Gln) | |
| 15 | g.84840279A>G | CA393374051 | ALPK3 | c.1000A>G (p.Lys334Glu) c.1606A>G (p.Lys536Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.84840279A>T | CA393374053 | ALPK3 | c.1000A>T (p.Lys334Ter) c.1606A>T (p.Lys536Ter) | |
| 15 | g.84840280A>C | CA393374059 | ALPK3 | c.1001A>C (p.Lys334Thr) c.1607A>C (p.Lys536Thr) | ClinVar |
| 15 | g.84840280A>G | CA393374057 | ALPK3 | c.1001A>G (p.Lys334Arg) c.1607A>G (p.Lys536Arg) | |
| 15 | g.84840280A>T | CA393374055 | ALPK3 | c.1001A>T (p.Lys334Met) c.1607A>T (p.Lys536Met) | |
| 15 | g.84840282_84840285del | CA2695221131 | ALPK3 | c.1003_1006del (p.Ala335ProfsTer?) c.1609_1612del (p.Ala537ProfsTer?) | |
| 15 | g.84840281G>A | CA492277442 | ALPK3 | c.1002G>A (p.Lys334=) c.1608G>A (p.Lys536=) | |
| 15 | g.84840281G>C | CA393374063 | ALPK3 | c.1002G>C (p.Lys334Asn) c.1608G>C (p.Lys536Asn) | |
| 15 | g.84840281G>T | CA393374061 | ALPK3 | c.1002G>T (p.Lys334Asn) c.1608G>T (p.Lys536Asn) | |
| 15 | g.84840282G>A | CA393374065 | ALPK3 | c.1003G>A (p.Ala335Thr) c.1609G>A (p.Ala537Thr) | |
| 15 | g.84840282G>C | CA393374067 | ALPK3 | c.1003G>C (p.Ala335Pro) c.1609G>C (p.Ala537Pro) | |
| 15 | g.84840282G= | CA2192368274 | ALPK3 | c.1003G= (p.Ala335=) c.1609G= (p.Ala537=) | |
| 15 | g.84840282G>T | CA393374069 | ALPK3 | c.1003G>T (p.Ala335Ser) c.1609G>T (p.Ala537Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840283C>A | CA393374071 | ALPK3 | c.1004C>A (p.Ala335Glu) c.1610C>A (p.Ala537Glu) | |
| 15 | g.84840283C>G | CA393374073 | ALPK3 | c.1004C>G (p.Ala335Gly) c.1610C>G (p.Ala537Gly) | |
| 15 | g.84840283C>T | CA393374074 | ALPK3 | c.1004C>T (p.Ala335Val) c.1610C>T (p.Ala537Val) | gnomAD v4 |
| 15 | g.84840284A>C | CA492277457 | ALPK3 | c.1005A>C (p.Ala335=) c.1611A>C (p.Ala537=) | |
| 15 | g.84840284A>G | CA492277459 | ALPK3 | c.1005A>G (p.Ala335=) c.1611A>G (p.Ala537=) | |
| 15 | g.84840284A>T | CA492277460 | ALPK3 | c.1005A>T (p.Ala335=) c.1611A>T (p.Ala537=) | |
| 15 | g.84840285G>A | CA393374076 | ALPK3 | c.1006G>A (p.Ala336Thr) c.1612G>A (p.Ala538Thr) | |
| 15 | g.84840285G>C | CA393374077 | ALPK3 | c.1006G>C (p.Ala336Pro) c.1612G>C (p.Ala538Pro) | |
| 15 | g.84840285G>T | CA393374079 | ALPK3 | c.1006G>T (p.Ala336Ser) c.1612G>T (p.Ala538Ser) |