UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84840175C>A | CA7709092 | ALPK3 | c.896C>A (p.Ala299Asp) c.1502C>A (p.Ala501Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840175C= | CA2192368230 | ALPK3 | c.896C= (p.Ala299=) c.1502C= (p.Ala501=) | |
| 15 | g.84840175C>G | CA393373731 | ALPK3 | c.896C>G (p.Ala299Gly) c.1502C>G (p.Ala501Gly) | |
| 15 | g.84840175C>T | CA393373732 | ALPK3 | c.896C>T (p.Ala299Val) c.1502C>T (p.Ala501Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.84840176C>A | CA492277897 | ALPK3 | c.897C>A (p.Ala299=) c.1503C>A (p.Ala501=) | |
| 15 | g.84840176C= | CA2192368231 | ALPK3 | c.897C= (p.Ala299=) c.1503C= (p.Ala501=) | |
| 15 | g.84840176C>G | CA492277898 | ALPK3 | c.897C>G (p.Ala299=) c.1503C>G (p.Ala501=) | dbSNP |
| 15 | g.84840176C>T | CA492277899 | ALPK3 | c.897C>T (p.Ala299=) c.1503C>T (p.Ala501=) | |
| 15 | g.84840177A= | CA2192368232 | ALPK3 | c.898A= (p.Met300=) c.1504A= (p.Met502=) | |
| 15 | g.84840177A>C | CA393373733 | ALPK3 | c.898A>C (p.Met300Leu) c.1504A>C (p.Met502Leu) | |
| 15 | g.84840177A>G | CA7709093 | ALPK3 | c.898A>G (p.Met300Val) c.1504A>G (p.Met502Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840177A>T | CA393373734 | ALPK3 | c.898A>T (p.Met300Leu) c.1504A>T (p.Met502Leu) | gnomAD v4 |
| 15 | g.84840178T>A | CA393373735 | ALPK3 | c.899T>A (p.Met300Lys) c.1505T>A (p.Met502Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840178T>C | CA393373736 | ALPK3 | c.899T>C (p.Met300Thr) c.1505T>C (p.Met502Thr) | dbSNP gnomAD v4 |
| 15 | g.84840178T>G | CA393373737 | ALPK3 | c.899T>G (p.Met300Arg) c.1505T>G (p.Met502Arg) | |
| 15 | g.84840178T= | CA2192368233 | ALPK3 | c.899T= (p.Met300=) c.1505T= (p.Met502=) | |
| 15 | g.84840179G>A | CA393373738 | ALPK3 | c.900G>A (p.Met300Ile) c.1506G>A (p.Met502Ile) | dbSNP |
| 15 | g.84840179G>C | CA393373739 | ALPK3 | c.900G>C (p.Met300Ile) c.1506G>C (p.Met502Ile) | |
| 15 | g.84840179G= | CA2192368234 | ALPK3 | c.900G= (p.Met300=) c.1506G= (p.Met502=) | |
| 15 | g.84840179G>T | CA393373740 | ALPK3 | c.900G>T (p.Met300Ile) c.1506G>T (p.Met502Ile) | |
| 15 | g.84840180G>A | CA393373742 | ALPK3 | c.901G>A (p.Glu301Lys) c.1507G>A (p.Glu503Lys) | |
| 15 | g.84840180G>C | CA393373743 | ALPK3 | c.901G>C (p.Glu301Gln) c.1507G>C (p.Glu503Gln) | |
| 15 | g.84840180G>T | CA393373741 | ALPK3 | c.901G>T (p.Glu301Ter) c.1507G>T (p.Glu503Ter) | |
| 15 | g.84840181A>C | CA393373744 | ALPK3 | c.902A>C (p.Glu301Ala) c.1508A>C (p.Glu503Ala) | |
| 15 | g.84840181A>G | CA393373745 | ALPK3 | c.902A>G (p.Glu301Gly) c.1508A>G (p.Glu503Gly) | |
| 15 | g.84840181A>T | CA393373746 | ALPK3 | c.902A>T (p.Glu301Val) c.1508A>T (p.Glu503Val) | |
| 15 | g.84840182G>A | CA492277901 | ALPK3 | c.903G>A (p.Glu301=) c.1509G>A (p.Glu503=) | |
| 15 | g.84840182G>C | CA393373747 | ALPK3 | c.903G>C (p.Glu301Asp) c.1509G>C (p.Glu503Asp) | |
| 15 | g.84840182G= | CA2192368235 | ALPK3 | c.903G= (p.Glu301=) c.1509G= (p.Glu503=) | |
| 15 | g.84840182G>T | CA393373748 | ALPK3 | c.903G>T (p.Glu301Asp) c.1509G>T (p.Glu503Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840183C>A | CA273665698 | ALPK3 | c.904C>A (p.Leu302Met) c.1510C>A (p.Leu504Met) | ClinVar dbSNP gnomAD v4 |
| 15 | g.84840183C= | CA2192368236 | ALPK3 | c.904C= (p.Leu302=) c.1510C= (p.Leu504=) | |
| 15 | g.84840183C>G | CA393373749 | ALPK3 | c.904C>G (p.Leu302Val) c.1510C>G (p.Leu504Val) | |
| 15 | g.84840183C>T | CA492277903 | ALPK3 | c.904C>T (p.Leu302=) c.1510C>T (p.Leu504=) | COSMIC COSMIC |
| 15 | g.84840184T>A | CA393373750 | ALPK3 | c.905T>A (p.Leu302Gln) c.1511T>A (p.Leu504Gln) | |
| 15 | g.84840184T>C | CA393373751 | ALPK3 | c.905T>C (p.Leu302Pro) c.1511T>C (p.Leu504Pro) | dbSNP |
| 15 | g.84840184T>G | CA393373752 | ALPK3 | c.905T>G (p.Leu302Arg) c.1511T>G (p.Leu504Arg) | |
| 15 | g.84840184T= | CA2192368237 | ALPK3 | c.905T= (p.Leu302=) c.1511T= (p.Leu504=) | |
| 15 | g.84840185G>A | CA492277905 | ALPK3 | c.906G>A (p.Leu302=) c.1512G>A (p.Leu504=) | gnomAD v4 |
| 15 | g.84840185G>C | CA492277906 | ALPK3 | c.906G>C (p.Leu302=) c.1512G>C (p.Leu504=) | |
| 15 | g.84840185G>T | CA492277907 | ALPK3 | c.906G>T (p.Leu302=) c.1512G>T (p.Leu504=) | |
| 15 | g.84840186G>A | CA393373753 | ALPK3 | c.907G>A (p.Gly303Arg) c.1513G>A (p.Gly505Arg) | gnomAD v4 |
| 15 | g.84840186G>C | CA393373754 | ALPK3 | c.907G>C (p.Gly303Arg) c.1513G>C (p.Gly505Arg) | |
| 15 | g.84840186G>T | CA393373755 | ALPK3 | c.907G>T (p.Gly303Trp) c.1513G>T (p.Gly505Trp) | |
| 15 | g.84840187G>A | CA393373756 | ALPK3 | c.908G>A (p.Gly303Glu) c.1514G>A (p.Gly505Glu) | gnomAD v4 |
| 15 | g.84840187G>C | CA393373758 | ALPK3 | c.908G>C (p.Gly303Ala) c.1514G>C (p.Gly505Ala) | |
| 15 | g.84840187G>T | CA393373757 | ALPK3 | c.908G>T (p.Gly303Val) c.1514G>T (p.Gly505Val) | |
| 15 | g.84840188G>A | CA492277909 | ALPK3 | c.909G>A (p.Gly303=) c.1515G>A (p.Gly505=) | |
| 15 | g.84840188G>C | CA492277910 | ALPK3 | c.909G>C (p.Gly303=) c.1515G>C (p.Gly505=) | |
| 15 | g.84840188G>T | CA492277911 | ALPK3 | c.909G>T (p.Gly303=) c.1515G>T (p.Gly505=) | |
| 15 | g.84840189C>A | CA393373759 | ALPK3 | c.910C>A (p.Pro304Thr) c.1516C>A (p.Pro506Thr) | |
| 15 | g.84840189C= | CA2192368238 | ALPK3 | c.910C= (p.Pro304=) c.1516C= (p.Pro506=) | |
| 15 | g.84840189C>G | CA393373760 | ALPK3 | c.910C>G (p.Pro304Ala) c.1516C>G (p.Pro506Ala) | dbSNP |
| 15 | g.84840189C>T | CA7709094 | ALPK3 | c.910C>T (p.Pro304Ser) c.1516C>T (p.Pro506Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840190C>A | CA393373761 | ALPK3 | c.911C>A (p.Pro304His) c.1517C>A (p.Pro506His) | |
| 15 | g.84840190C= | CA2192368239 | ALPK3 | c.911C= (p.Pro304=) c.1517C= (p.Pro506=) | |
| 15 | g.84840190C>G | CA393373762 | ALPK3 | c.911C>G (p.Pro304Arg) c.1517C>G (p.Pro506Arg) | |
| 15 | g.84840190C>T | CA273665704 | ALPK3 | c.911C>T (p.Pro304Leu) c.1517C>T (p.Pro506Leu) | dbSNP |
| 15 | g.84840191T>A | CA492277913 | ALPK3 | c.912T>A (p.Pro304=) c.1518T>A (p.Pro506=) | |
| 15 | g.84840191T>C | CA492277914 | ALPK3 | c.912T>C (p.Pro304=) c.1518T>C (p.Pro506=) | |
| 15 | g.84840191T>G | CA492277915 | ALPK3 | c.912T>G (p.Pro304=) c.1518T>G (p.Pro506=) | |
| 15 | g.84840192C>A | CA393373763 | ALPK3 | c.913C>A (p.Gln305Lys) c.1519C>A (p.Gln507Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840192C= | CA2192368240 | ALPK3 | c.913C= (p.Gln305=) c.1519C= (p.Gln507=) | |
| 15 | g.84840192C>G | CA393373764 | ALPK3 | c.913C>G (p.Gln305Glu) c.1519C>G (p.Gln507Glu) | |
| 15 | g.84840192C>T | CA393373765 | ALPK3 | c.913C>T (p.Gln305Ter) c.1519C>T (p.Gln507Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840193A= | CA2192368241 | ALPK3 | c.914A= (p.Gln305=) c.1520A= (p.Gln507=) | |
| 15 | g.84840193A>C | CA393373766 | ALPK3 | c.914A>C (p.Gln305Pro) c.1520A>C (p.Gln507Pro) | |
| 15 | g.84840193A>G | CA393373767 | ALPK3 | c.914A>G (p.Gln305Arg) c.1520A>G (p.Gln507Arg) | gnomAD v4 |
| 15 | g.84840193A>T | CA393373768 | ALPK3 | c.914A>T (p.Gln305Leu) c.1520A>T (p.Gln507Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840194G>A | CA492277917 | ALPK3 | c.915G>A (p.Gln305=) c.1521G>A (p.Gln507=) | |
| 15 | g.84840194G>C | CA393373769 | ALPK3 | c.915G>C (p.Gln305His) c.1521G>C (p.Gln507His) | |
| 15 | g.84840194G>T | CA393373770 | ALPK3 | c.915G>T (p.Gln305His) c.1521G>T (p.Gln507His) | gnomAD v4 |
| 15 | g.84840195A>C | CA492277918 | ALPK3 | c.916A>C (p.Arg306=) c.1522A>C (p.Arg508=) | |
| 15 | g.84840195A>G | CA393373772 | ALPK3 | c.916A>G (p.Arg306Gly) c.1522A>G (p.Arg508Gly) | gnomAD v4 |
| 15 | g.84840195A>T | CA393373771 | ALPK3 | c.916A>T (p.Arg306Ter) c.1522A>T (p.Arg508Ter) | |
| 15 | g.84840196G>A | CA393373773 | ALPK3 | c.917G>A (p.Arg306Lys) c.1523G>A (p.Arg508Lys) | ClinVar dbSNP |
| 15 | g.84840196G>C | CA393373774 | ALPK3 | c.917G>C (p.Arg306Thr) c.1523G>C (p.Arg508Thr) | |
| 15 | g.84840196G>T | CA393373775 | ALPK3 | c.917G>T (p.Arg306Ile) c.1523G>T (p.Arg508Ile) | |
| 15 | g.84840197A= | CA2192368242 | ALPK3 | c.918A= (p.Arg306=) c.1524A= (p.Arg508=) | |
| 15 | g.84840197A>C | CA393373776 | ALPK3 | c.918A>C (p.Arg306Ser) c.1524A>C (p.Arg508Ser) | |
| 15 | g.84840197A>G | CA492277920 | ALPK3 | c.918A>G (p.Arg306=) c.1524A>G (p.Arg508=) | dbSNP gnomAD v2 |
| 15 | g.84840197A>T | CA393373777 | ALPK3 | c.918A>T (p.Arg306Ser) c.1524A>T (p.Arg508Ser) | |
| 15 | g.84840198G>A | CA393373779 | ALPK3 | c.919G>A (p.Ala307Thr) c.1525G>A (p.Ala509Thr) | gnomAD v4 |
| 15 | g.84840198G>C | CA273665712 | ALPK3 | c.919G>C (p.Ala307Pro) c.1525G>C (p.Ala509Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840198G= | CA2192368243 | ALPK3 | c.919G= (p.Ala307=) c.1525G= (p.Ala509=) | |
| 15 | g.84840198G>T | CA393373778 | ALPK3 | c.919G>T (p.Ala307Ser) c.1525G>T (p.Ala509Ser) | dbSNP |
| 15 | g.84840199C>A | CA393373780 | ALPK3 | c.920C>A (p.Ala307Asp) c.1526C>A (p.Ala509Asp) | dbSNP |
| 15 | g.84840199C= | CA2192368244 | ALPK3 | c.920C= (p.Ala307=) c.1526C= (p.Ala509=) | |
| 15 | g.84840199C>G | CA393373781 | ALPK3 | c.920C>G (p.Ala307Gly) c.1526C>G (p.Ala509Gly) | gnomAD v4 |
| 15 | g.84840199C>T | CA393373782 | ALPK3 | c.920C>T (p.Ala307Val) c.1526C>T (p.Ala509Val) | gnomAD v4 |
| 15 | g.84840200C>A | CA492277924 | ALPK3 | c.921C>A (p.Ala307=) c.1527C>A (p.Ala509=) | |
| 15 | g.84840200C>G | CA492277921 | ALPK3 | c.921C>G (p.Ala307=) c.1527C>G (p.Ala509=) | |
| 15 | g.84840200C>T | CA492277922 | ALPK3 | c.921C>T (p.Ala307=) c.1527C>T (p.Ala509=) | |
| 15 | g.84840201C>A | CA393373783 | ALPK3 | c.922C>A (p.Leu308Ile) c.1528C>A (p.Leu510Ile) | |
| 15 | g.84840201C>G | CA393373784 | ALPK3 | c.922C>G (p.Leu308Val) c.1528C>G (p.Leu510Val) | |
| 15 | g.84840201C>T | CA393373785 | ALPK3 | c.922C>T (p.Leu308Phe) c.1528C>T (p.Leu510Phe) | |
| 15 | g.84840202T>A | CA393373786 | ALPK3 | c.923T>A (p.Leu308His) c.1529T>A (p.Leu510His) | dbSNP gnomAD v4 |
| 15 | g.84840202T>C | CA393373788 | ALPK3 | c.923T>C (p.Leu308Pro) c.1529T>C (p.Leu510Pro) | |
| 15 | g.84840202T>G | CA393373787 | ALPK3 | c.923T>G (p.Leu308Arg) c.1529T>G (p.Leu510Arg) | |
| 15 | g.84840203C>A | CA492277286 | ALPK3 | c.924C>A (p.Leu308=) c.1530C>A (p.Leu510=) | |
| 15 | g.84840203C>G | CA492277287 | ALPK3 | c.924C>G (p.Leu308=) c.1530C>G (p.Leu510=) | gnomAD v4 |
| 15 | g.84840203C>T | CA492277288 | ALPK3 | c.924C>T (p.Leu308=) c.1530C>T (p.Leu510=) | |
| 15 | g.84840204A>C | CA393373789 | ALPK3 | c.925A>C (p.Lys309Gln) c.1531A>C (p.Lys511Gln) | |
| 15 | g.84840204A>G | CA393373790 | ALPK3 | c.925A>G (p.Lys309Glu) c.1531A>G (p.Lys511Glu) | |
| 15 | g.84840204A>T | CA393373791 | ALPK3 | c.925A>T (p.Lys309Ter) c.1531A>T (p.Lys511Ter) | |
| 15 | g.84840205_84840206del | CA2499306950 | ALPK3 | c.926_927del (p.Lys309ArgfsTer12) c.1532_1533del (p.Lys511ArgfsTer12) | ClinVar |
| 15 | g.84840205A>C | CA393373792 | ALPK3 | c.926A>C (p.Lys309Thr) c.1532A>C (p.Lys511Thr) | |
| 15 | g.84840205A>G | CA393373793 | ALPK3 | c.926A>G (p.Lys309Arg) c.1532A>G (p.Lys511Arg) | |
| 15 | g.84840205A>T | CA393373794 | ALPK3 | c.926A>T (p.Lys309Ile) c.1532A>T (p.Lys511Ile) | |
| 15 | g.84840206A>C | CA393373795 | ALPK3 | c.927A>C (p.Lys309Asn) c.1533A>C (p.Lys511Asn) | |
| 15 | g.84840206A>G | CA492277291 | ALPK3 | c.927A>G (p.Lys309=) c.1533A>G (p.Lys511=) | |
| 15 | g.84840206A>T | CA393373796 | ALPK3 | c.927A>T (p.Lys309Asn) c.1533A>T (p.Lys511Asn) | |
| 15 | g.84840207G>A | CA393373797 | ALPK3 | c.928G>A (p.Glu310Lys) c.1534G>A (p.Glu512Lys) | |
| 15 | g.84840207G>C | CA393373798 | ALPK3 | c.928G>C (p.Glu310Gln) c.1534G>C (p.Glu512Gln) | |
| 15 | g.84840207G>T | CA393373799 | ALPK3 | c.928G>T (p.Glu310Ter) c.1534G>T (p.Glu512Ter) | |
| 15 | g.84840208A>C | CA393373802 | ALPK3 | c.929A>C (p.Glu310Ala) c.1535A>C (p.Glu512Ala) | |
| 15 | g.84840208A>G | CA393373801 | ALPK3 | c.929A>G (p.Glu310Gly) c.1535A>G (p.Glu512Gly) | |
| 15 | g.84840208A>T | CA393373800 | ALPK3 | c.929A>T (p.Glu310Val) c.1535A>T (p.Glu512Val) | |
| 15 | g.84840209G>A | CA492277294 | ALPK3 | c.930G>A (p.Glu310=) c.1536G>A (p.Glu512=) | |
| 15 | g.84840209G>C | CA393373803 | ALPK3 | c.930G>C (p.Glu310Asp) c.1536G>C (p.Glu512Asp) | ClinVar gnomAD v4 |
| 15 | g.84840209G>T | CA393373804 | ALPK3 | c.930G>T (p.Glu310Asp) c.1536G>T (p.Glu512Asp) | |
| 15 | g.84840210G>A | CA393373805 | ALPK3 | c.931G>A (p.Glu311Lys) c.1537G>A (p.Glu513Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840210G>C | CA393373806 | ALPK3 | c.931G>C (p.Glu311Gln) c.1537G>C (p.Glu513Gln) | |
| 15 | g.84840210G= | CA2192368245 | ALPK3 | c.931G= (p.Glu311=) c.1537G= (p.Glu513=) | |
| 15 | g.84840210G>T | CA393373807 | ALPK3 | c.931G>T (p.Glu311Ter) c.1537G>T (p.Glu513Ter) | |
| 15 | g.84840211A>C | CA393373808 | ALPK3 | c.932A>C (p.Glu311Ala) c.1538A>C (p.Glu513Ala) | |
| 15 | g.84840211A>G | CA393373809 | ALPK3 | c.932A>G (p.Glu311Gly) c.1538A>G (p.Glu513Gly) | |
| 15 | g.84840211A>T | CA393373810 | ALPK3 | c.932A>T (p.Glu311Val) c.1538A>T (p.Glu513Val) | |
| 15 | g.84840212G>A | CA492277296 | ALPK3 | c.933G>A (p.Glu311=) c.1539G>A (p.Glu513=) | |
| 15 | g.84840212G>C | CA393373811 | ALPK3 | c.933G>C (p.Glu311Asp) c.1539G>C (p.Glu513Asp) | |
| 15 | g.84840212G>T | CA393373812 | ALPK3 | c.933G>T (p.Glu311Asp) c.1539G>T (p.Glu513Asp) | |
| 15 | g.84840213A>C | CA393373813 | ALPK3 | c.934A>C (p.Ser312Arg) c.1540A>C (p.Ser514Arg) | |
| 15 | g.84840213A>G | CA393373814 | ALPK3 | c.934A>G (p.Ser312Gly) c.1540A>G (p.Ser514Gly) | |
| 15 | g.84840213A>T | CA393373815 | ALPK3 | c.934A>T (p.Ser312Cys) c.1540A>T (p.Ser514Cys) | |
| 15 | g.84840214G>A | CA393373816 | ALPK3 | c.935G>A (p.Ser312Asn) c.1541G>A (p.Ser514Asn) | |
| 15 | g.84840214G>C | CA393373817 | ALPK3 | c.935G>C (p.Ser312Thr) c.1541G>C (p.Ser514Thr) | |
| 15 | g.84840214G= | CA2192368246 | ALPK3 | c.935G= (p.Ser312=) c.1541G= (p.Ser514=) | |
| 15 | g.84840214G>T | CA273665727 | ALPK3 | c.935G>T (p.Ser312Ile) c.1541G>T (p.Ser514Ile) | dbSNP |
| 15 | g.84840215T>A | CA393373819 | ALPK3 | c.936T>A (p.Ser312Arg) c.1542T>A (p.Ser514Arg) | |
| 15 | g.84840215T>C | CA492277298 | ALPK3 | c.936T>C (p.Ser312=) c.1542T>C (p.Ser514=) | |
| 15 | g.84840215T>G | CA393373818 | ALPK3 | c.936T>G (p.Ser312Arg) c.1542T>G (p.Ser514Arg) | |
| 15 | g.84840216G>A | CA393373821 | ALPK3 | c.937G>A (p.Gly313Arg) c.1543G>A (p.Gly515Arg) | |
| 15 | g.84840216G>C | CA393373820 | ALPK3 | c.937G>C (p.Gly313Arg) c.1543G>C (p.Gly515Arg) | |
| 15 | g.84840216G>T | CA393373822 | ALPK3 | c.937G>T (p.Gly313Trp) c.1543G>T (p.Gly515Trp) | gnomAD v4 |
| 15 | g.84840219del | CA2630109266 | ALPK3 | c.940del (p.Ala314ProfsTer19) c.1546del (p.Ala516ProfsTer19) | gnomAD v4 |
| 15 | g.84840217G>A | CA7709095 | ALPK3 | c.938G>A (p.Gly313Glu) c.1544G>A (p.Gly515Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840217G>C | CA393373824 | ALPK3 | c.938G>C (p.Gly313Ala) c.1544G>C (p.Gly515Ala) | |
| 15 | g.84840217G= | CA2192368247 | ALPK3 | c.938G= (p.Gly313=) c.1544G= (p.Gly515=) | |
| 15 | g.84840217G>T | CA393373823 | ALPK3 | c.938G>T (p.Gly313Val) c.1544G>T (p.Gly515Val) | |
| 15 | g.84840218G>A | CA492277304 | ALPK3 | c.939G>A (p.Gly313=) c.1545G>A (p.Gly515=) | ClinVar |
| 15 | g.84840218G>C | CA492277303 | ALPK3 | c.939G>C (p.Gly313=) c.1545G>C (p.Gly515=) | |
| 15 | g.84840218G>T | CA492277302 | ALPK3 | c.939G>T (p.Gly313=) c.1545G>T (p.Gly515=) | |
| 15 | g.84840219G>A | CA7709096 | ALPK3 | c.940G>A (p.Ala314Thr) c.1546G>A (p.Ala516Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840219G>C | CA393373826 | ALPK3 | c.940G>C (p.Ala314Pro) c.1546G>C (p.Ala516Pro) | |
| 15 | g.84840219G= | CA2192368248 | ALPK3 | c.940G= (p.Ala314=) c.1546G= (p.Ala516=) | |
| 15 | g.84840219G>T | CA393373825 | ALPK3 | c.940G>T (p.Ala314Ser) c.1546G>T (p.Ala516Ser) | |
| 15 | g.84840220C>A | CA393373827 | ALPK3 | c.941C>A (p.Ala314Asp) c.1547C>A (p.Ala516Asp) | |
| 15 | g.84840220C>G | CA393373828 | ALPK3 | c.941C>G (p.Ala314Gly) c.1547C>G (p.Ala516Gly) | |
| 15 | g.84840220C>T | CA393373829 | ALPK3 | c.941C>T (p.Ala314Val) c.1547C>T (p.Ala516Val) | |
| 15 | g.84840221C>A | CA492277306 | ALPK3 | c.942C>A (p.Ala314=) c.1548C>A (p.Ala516=) | gnomAD v4 |
| 15 | g.84840221C>G | CA492277308 | ALPK3 | c.942C>G (p.Ala314=) c.1548C>G (p.Ala516=) | |
| 15 | g.84840221C>T | CA492277307 | ALPK3 | c.942C>T (p.Ala314=) c.1548C>T (p.Ala516=) | |
| 15 | g.84840222A= | CA2192368249 | ALPK3 | c.943A= (p.Lys315=) c.1549A= (p.Lys517=) | |
| 15 | g.84840222A>C | CA393373830 | ALPK3 | c.943A>C (p.Lys315Gln) c.1549A>C (p.Lys517Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840222A>G | CA393373831 | ALPK3 | c.943A>G (p.Lys315Glu) c.1549A>G (p.Lys517Glu) | |
| 15 | g.84840222A>T | CA393373832 | ALPK3 | c.943A>T (p.Lys315Ter) c.1549A>T (p.Lys517Ter) | |
| 15 | g.84840223A>C | CA393373833 | ALPK3 | c.944A>C (p.Lys315Thr) c.1550A>C (p.Lys517Thr) | |
| 15 | g.84840223A>G | CA393373834 | ALPK3 | c.944A>G (p.Lys315Arg) c.1550A>G (p.Lys517Arg) | gnomAD v4 |
| 15 | g.84840223A>T | CA393373835 | ALPK3 | c.944A>T (p.Lys315Met) c.1550A>T (p.Lys517Met) | |
| 15 | g.84840224G>A | CA492277312 | ALPK3 | c.945G>A (p.Lys315=) c.1551G>A (p.Lys517=) | |
| 15 | g.84840224G>C | CA273665749 | ALPK3 | c.945G>C (p.Lys315Asn) c.1551G>C (p.Lys517Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840224G= | CA2192368250 | ALPK3 | c.945G= (p.Lys315=) c.1551G= (p.Lys517=) | |
| 15 | g.84840224G>T | CA393373836 | ALPK3 | c.945G>T (p.Lys315Asn) c.1551G>T (p.Lys517Asn) | |
| 15 | g.84840225A= | CA2192368251 | ALPK3 | c.946A= (p.Lys316=) c.1552A= (p.Lys518=) | |
| 15 | g.84840225A>C | CA393373837 | ALPK3 | c.946A>C (p.Lys316Gln) c.1552A>C (p.Lys518Gln) | |
| 15 | g.84840225A>G | CA393373839 | ALPK3 | c.946A>G (p.Lys316Glu) c.1552A>G (p.Lys518Glu) | dbSNP |
| 15 | g.84840225A>T | CA393373838 | ALPK3 | c.946A>T (p.Lys316Ter) c.1552A>T (p.Lys518Ter) | |
| 15 | g.84840226A= | CA2192368252 | ALPK3 | c.947A= (p.Lys316=) c.1553A= (p.Lys518=) | |
| 15 | g.84840226A>C | CA7709097 | ALPK3 | c.947A>C (p.Lys316Thr) c.1553A>C (p.Lys518Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840226A>G | CA393373840 | ALPK3 | c.947A>G (p.Lys316Arg) c.1553A>G (p.Lys518Arg) | dbSNP |
| 15 | g.84840226A>T | CA393373841 | ALPK3 | c.947A>T (p.Lys316Met) c.1553A>T (p.Lys518Met) | |
| 15 | g.84840227G>A | CA7709098 | ALPK3 | c.948G>A (p.Lys316=) c.1554G>A (p.Lys518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840227G>C | CA393373842 | ALPK3 | c.948G>C (p.Lys316Asn) c.1554G>C (p.Lys518Asn) | |
| 15 | g.84840227G= | CA2192368253 | ALPK3 | c.948G= (p.Lys316=) c.1554G= (p.Lys518=) | |
| 15 | g.84840227G>T | CA393373843 | ALPK3 | c.948G>T (p.Lys316Asn) c.1554G>T (p.Lys518Asn) | COSMIC COSMIC |
| 15 | g.84840228A= | CA2192368254 | ALPK3 | c.949A= (p.Lys317=) c.1555A= (p.Lys519=) | |
| 15 | g.84840228A>C | CA393373844 | ALPK3 | c.949A>C (p.Lys317Gln) c.1555A>C (p.Lys519Gln) | |
| 15 | g.84840228A>G | CA393373845 | ALPK3 | c.949A>G (p.Lys317Glu) c.1555A>G (p.Lys519Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840228A>T | CA393373846 | ALPK3 | c.949A>T (p.Lys317Ter) c.1555A>T (p.Lys519Ter) | |
| 15 | g.84840229A>C | CA393373848 | ALPK3 | c.950A>C (p.Lys317Thr) c.1556A>C (p.Lys519Thr) | |
| 15 | g.84840229A>G | CA393373849 | ALPK3 | c.950A>G (p.Lys317Arg) c.1556A>G (p.Lys519Arg) | |
| 15 | g.84840229A>T | CA393373847 | ALPK3 | c.950A>T (p.Lys317Ile) c.1556A>T (p.Lys519Ile) | |
| 15 | g.84840230A>C | CA393373850 | ALPK3 | c.951A>C (p.Lys317Asn) c.1557A>C (p.Lys519Asn) | |
| 15 | g.84840230A>G | CA492277320 | ALPK3 | c.951A>G (p.Lys317=) c.1557A>G (p.Lys519=) | gnomAD v4 |
| 15 | g.84840230A>T | CA393373852 | ALPK3 | c.951A>T (p.Lys317Asn) c.1557A>T (p.Lys519Asn) | |
| 15 | g.84840231A>C | CA393373854 | ALPK3 | c.952A>C (p.Lys318Gln) c.1558A>C (p.Lys520Gln) | |
| 15 | g.84840231A>G | CA393373856 | ALPK3 | c.952A>G (p.Lys318Glu) c.1558A>G (p.Lys520Glu) | |
| 15 | g.84840231A>T | CA393373857 | ALPK3 | c.952A>T (p.Lys318Ter) c.1558A>T (p.Lys520Ter) | |
| 15 | g.84840232A>C | CA393373863 | ALPK3 | c.953A>C (p.Lys318Thr) c.1559A>C (p.Lys520Thr) | |
| 15 | g.84840232A>G | CA393373859 | ALPK3 | c.953A>G (p.Lys318Arg) c.1559A>G (p.Lys520Arg) | |
| 15 | g.84840232A>T | CA393373861 | ALPK3 | c.953A>T (p.Lys318Met) c.1559A>T (p.Lys520Met) | |
| 15 | g.84840233G>A | CA492277324 | ALPK3 | c.954G>A (p.Lys318=) c.1560G>A (p.Lys520=) | |
| 15 | g.84840233G>C | CA393373865 | ALPK3 | c.954G>C (p.Lys318Asn) c.1560G>C (p.Lys520Asn) | |
| 15 | g.84840233G>T | CA393373866 | ALPK3 | c.954G>T (p.Lys318Asn) c.1560G>T (p.Lys520Asn) | gnomAD v4 |
| 15 | g.84840234A= | CA2192368255 | ALPK3 | c.955A= (p.Lys319=) c.1561A= (p.Lys521=) | |
| 15 | g.84840234A>C | CA393373869 | ALPK3 | c.955A>C (p.Lys319Gln) c.1561A>C (p.Lys521Gln) | |
| 15 | g.84840234A>G | CA393373870 | ALPK3 | c.955A>G (p.Lys319Glu) c.1561A>G (p.Lys521Glu) | dbSNP gnomAD v4 |
| 15 | g.84840234A>T | CA393373871 | ALPK3 | c.955A>T (p.Lys319Ter) c.1561A>T (p.Lys521Ter) | gnomAD v4 |
| 15 | g.84840235A>C | CA393373874 | ALPK3 | c.956A>C (p.Lys319Thr) c.1562A>C (p.Lys521Thr) | |
| 15 | g.84840235A>G | CA393373877 | ALPK3 | c.956A>G (p.Lys319Arg) c.1562A>G (p.Lys521Arg) | |
| 15 | g.84840235A>T | CA393373875 | ALPK3 | c.956A>T (p.Lys319Ile) c.1562A>T (p.Lys521Ile) | |
| 15 | g.84840236A= | CA2192368256 | ALPK3 | c.957A= (p.Lys319=) c.1563A= (p.Lys521=) | |
| 15 | g.84840236A>C | CA393373879 | ALPK3 | c.957A>C (p.Lys319Asn) c.1563A>C (p.Lys521Asn) | |
| 15 | g.84840236A>G | CA7709099 | ALPK3 | c.957A>G (p.Lys319=) c.1563A>G (p.Lys521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840236A>T | CA393373881 | ALPK3 | c.957A>T (p.Lys319Asn) c.1563A>T (p.Lys521Asn) | |
| 15 | g.84840237G>A | CA393373883 | ALPK3 | c.958G>A (p.Asp320Asn) c.1564G>A (p.Asp522Asn) | |
| 15 | g.84840237G>C | CA393373885 | ALPK3 | c.958G>C (p.Asp320His) c.1564G>C (p.Asp522His) | |
| 15 | g.84840237G= | CA2192368257 | ALPK3 | c.958G= (p.Asp320=) c.1564G= (p.Asp522=) | |
| 15 | g.84840237G>T | CA393373887 | ALPK3 | c.958G>T (p.Asp320Tyr) c.1564G>T (p.Asp522Tyr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.84840238A>C | CA393373889 | ALPK3 | c.959A>C (p.Asp320Ala) c.1565A>C (p.Asp522Ala) | |
| 15 | g.84840238A>G | CA393373890 | ALPK3 | c.959A>G (p.Asp320Gly) c.1565A>G (p.Asp522Gly) | ClinVar |
| 15 | g.84840238A>T | CA393373892 | ALPK3 | c.959A>T (p.Asp320Val) c.1565A>T (p.Asp522Val) | |
| 15 | g.84840239T>A | CA393373894 | ALPK3 | c.960T>A (p.Asp320Glu) c.1566T>A (p.Asp522Glu) | |
| 15 | g.84840239T>C | CA492277333 | ALPK3 | c.960T>C (p.Asp320=) c.1566T>C (p.Asp522=) | |
| 15 | g.84840239T>G | CA393373896 | ALPK3 | c.960T>G (p.Asp320Glu) c.1566T>G (p.Asp522Glu) | |
| 15 | g.84840240G>A | CA393373901 | ALPK3 | c.961G>A (p.Glu321Lys) c.1567G>A (p.Glu523Lys) | |
| 15 | g.84840240G>C | CA393373900 | ALPK3 | c.961G>C (p.Glu321Gln) c.1567G>C (p.Glu523Gln) | |
| 15 | g.84840240G>T | CA393373898 | ALPK3 | c.961G>T (p.Glu321Ter) c.1567G>T (p.Glu523Ter) | |
| 15 | g.84840241A= | CA2192368258 | ALPK3 | c.962A= (p.Glu321=) c.1568A= (p.Glu523=) | |
| 15 | g.84840241A>C | CA393373903 | ALPK3 | c.962A>C (p.Glu321Ala) c.1568A>C (p.Glu523Ala) | |
| 15 | g.84840241A>G | CA7709100 | ALPK3 | c.962A>G (p.Glu321Gly) c.1568A>G (p.Glu523Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840241A>T | CA393373904 | ALPK3 | c.962A>T (p.Glu321Val) c.1568A>T (p.Glu523Val) | |
| 15 | g.84840242G>A | CA492277337 | ALPK3 | c.963G>A (p.Glu321=) c.1569G>A (p.Glu523=) | gnomAD v4 |
| 15 | g.84840242G>C | CA393373907 | ALPK3 | c.963G>C (p.Glu321Asp) c.1569G>C (p.Glu523Asp) | |
| 15 | g.84840242G>T | CA393373909 | ALPK3 | c.963G>T (p.Glu321Asp) c.1569G>T (p.Glu523Asp) | |
| 15 | g.84840243G>A | CA393373911 | ALPK3 | c.964G>A (p.Glu322Lys) c.1570G>A (p.Glu524Lys) | |
| 15 | g.84840243G>C | CA393373913 | ALPK3 | c.964G>C (p.Glu322Gln) c.1570G>C (p.Glu524Gln) | |
| 15 | g.84840243G>T | CA393373914 | ALPK3 | c.964G>T (p.Glu322Ter) c.1570G>T (p.Glu524Ter) | |
| 15 | g.84840244A>C | CA393373917 | ALPK3 | c.965A>C (p.Glu322Ala) c.1571A>C (p.Glu524Ala) | |
| 15 | g.84840244A>G | CA393373918 | ALPK3 | c.965A>G (p.Glu322Gly) c.1571A>G (p.Glu524Gly) | |
| 15 | g.84840244A>T | CA393373920 | ALPK3 | c.965A>T (p.Glu322Val) c.1571A>T (p.Glu524Val) | ClinVar |
| 15 | g.84840245A>C | CA393373921 | ALPK3 | c.966A>C (p.Glu322Asp) c.1572A>C (p.Glu524Asp) | |
| 15 | g.84840245A>G | CA492277342 | ALPK3 | c.966A>G (p.Glu322=) c.1572A>G (p.Glu524=) | |
| 15 | g.84840245A>T | CA393373924 | ALPK3 | c.966A>T (p.Glu322Asp) c.1572A>T (p.Glu524Asp) | |
| 15 | g.84840246T>A | CA393373927 | ALPK3 | c.967T>A (p.Ser323Thr) c.1573T>A (p.Ser525Thr) | |
| 15 | g.84840246T>C | CA273665766 | ALPK3 | c.967T>C (p.Ser323Pro) c.1573T>C (p.Ser525Pro) | dbSNP |
| 15 | g.84840246T>G | CA393373925 | ALPK3 | c.967T>G (p.Ser323Ala) c.1573T>G (p.Ser525Ala) | |
| 15 | g.84840246T= | CA2192368259 | ALPK3 | c.967T= (p.Ser323=) c.1573T= (p.Ser525=) | |
| 15 | g.84840247C>A | CA393373929 | ALPK3 | c.968C>A (p.Ser323Tyr) c.1574C>A (p.Ser525Tyr) | |
| 15 | g.84840247C>G | CA393373931 | ALPK3 | c.968C>G (p.Ser323Cys) c.1574C>G (p.Ser525Cys) | |
| 15 | g.84840247C>T | CA393373933 | ALPK3 | c.968C>T (p.Ser323Phe) c.1574C>T (p.Ser525Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840248C>A | CA492277344 | ALPK3 | c.969C>A (p.Ser323=) c.1575C>A (p.Ser525=) | |
| 15 | g.84840248C>G | CA492277345 | ALPK3 | c.969C>G (p.Ser323=) c.1575C>G (p.Ser525=) | |
| 15 | g.84840248C>T | CA492277346 | ALPK3 | c.969C>T (p.Ser323=) c.1575C>T (p.Ser525=) | gnomAD v4 |
| 15 | g.84840252_84840255dup | CA2697549430 | ALPK3 | c.973_976dup (p.Gly326AlafsTer29) c.1579_1582dup (p.Gly528AlafsTer29) | ClinVar |
| 15 | g.84840249A= | CA2192368260 | ALPK3 | c.970A= (p.Lys324=) c.1576A= (p.Lys526=) | |
| 15 | g.84840249A>C | CA393373935 | ALPK3 | c.970A>C (p.Lys324Gln) c.1576A>C (p.Lys526Gln) | |
| 15 | g.84840249A>G | CA393373936 | ALPK3 | c.970A>G (p.Lys324Glu) c.1576A>G (p.Lys526Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840249A>T | CA393373937 | ALPK3 | c.970A>T (p.Lys324Ter) c.1576A>T (p.Lys526Ter) | |
| 15 | g.84840250A>C | CA393373939 | ALPK3 | c.971A>C (p.Lys324Thr) c.1577A>C (p.Lys526Thr) | |
| 15 | g.84840250A>G | CA393373941 | ALPK3 | c.971A>G (p.Lys324Arg) c.1577A>G (p.Lys526Arg) | |
| 15 | g.84840250A>T | CA393373943 | ALPK3 | c.971A>T (p.Lys324Met) c.1577A>T (p.Lys526Met) | |
| 15 | g.84840251G>A | CA492277358 | ALPK3 | c.972G>A (p.Lys324=) c.1578G>A (p.Lys526=) | dbSNP |
| 15 | g.84840251G>C | CA393373944 | ALPK3 | c.972G>C (p.Lys324Asn) c.1578G>C (p.Lys526Asn) | |
| 15 | g.84840251G= | CA2192368261 | ALPK3 | c.972G= (p.Lys324=) c.1578G= (p.Lys526=) | |
| 15 | g.84840251G>T | CA393373945 | ALPK3 | c.972G>T (p.Lys324Asn) c.1578G>T (p.Lys526Asn) | gnomAD v4 |
| 15 | g.84840252C>A | CA393373949 | ALPK3 | c.973C>A (p.Gln325Lys) c.1579C>A (p.Gln527Lys) | |
| 15 | g.84840252C>G | CA393373951 | ALPK3 | c.973C>G (p.Gln325Glu) c.1579C>G (p.Gln527Glu) | |
| 15 | g.84840252C>T | CA393373947 | ALPK3 | c.973C>T (p.Gln325Ter) c.1579C>T (p.Gln527Ter) | gnomAD v4 |
| 15 | g.84840253A>C | CA393373953 | ALPK3 | c.974A>C (p.Gln325Pro) c.1580A>C (p.Gln527Pro) | |
| 15 | g.84840253A>G | CA393373954 | ALPK3 | c.974A>G (p.Gln325Arg) c.1580A>G (p.Gln527Arg) | |
| 15 | g.84840253A>T | CA393373956 | ALPK3 | c.974A>T (p.Gln325Leu) c.1580A>T (p.Gln527Leu) | |
| 15 | g.84840254A>C | CA393373958 | ALPK3 | c.975A>C (p.Gln325His) c.1581A>C (p.Gln527His) | |
| 15 | g.84840254A>G | CA492277365 | ALPK3 | c.975A>G (p.Gln325=) c.1581A>G (p.Gln527=) | |
| 15 | g.84840254A>T | CA393373960 | ALPK3 | c.975A>T (p.Gln325His) c.1581A>T (p.Gln527His) | |
| 15 | g.84840255G>A | CA393373961 | ALPK3 | c.976G>A (p.Gly326Ser) c.1582G>A (p.Gly528Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840255G>C | CA393373962 | ALPK3 | c.976G>C (p.Gly326Arg) c.1582G>C (p.Gly528Arg) | |
| 15 | g.84840255G= | CA2192368262 | ALPK3 | c.976G= (p.Gly326=) c.1582G= (p.Gly528=) | |
| 15 | g.84840255G>T | CA393373963 | ALPK3 | c.976G>T (p.Gly326Cys) c.1582G>T (p.Gly528Cys) | |
| 15 | g.84840256G>A | CA393373964 | ALPK3 | c.977G>A (p.Gly326Asp) c.1583G>A (p.Gly528Asp) | |
| 15 | g.84840256G>C | CA393373966 | ALPK3 | c.977G>C (p.Gly326Ala) c.1583G>C (p.Gly528Ala) | |
| 15 | g.84840256G>T | CA393373968 | ALPK3 | c.977G>T (p.Gly326Val) c.1583G>T (p.Gly528Val) | ClinVar gnomAD v4 |
| 15 | g.84840257C>A | CA492277370 | ALPK3 | c.978C>A (p.Gly326=) c.1584C>A (p.Gly528=) | |
| 15 | g.84840257C>G | CA492277374 | ALPK3 | c.978C>G (p.Gly326=) c.1584C>G (p.Gly528=) | |
| 15 | g.84840257C>T | CA492277371 | ALPK3 | c.978C>T (p.Gly326=) c.1584C>T (p.Gly528=) | |
| 15 | g.84840258C>A | CA393373969 | ALPK3 | c.979C>A (p.Leu327Met) c.1585C>A (p.Leu529Met) | |
| 15 | g.84840258C>G | CA393373971 | ALPK3 | c.979C>G (p.Leu327Val) c.1585C>G (p.Leu529Val) | |
| 15 | g.84840258C>T | CA492277376 | ALPK3 | c.979C>T (p.Leu327=) c.1585C>T (p.Leu529=) | |
| 15 | g.84840259T>A | CA393373976 | ALPK3 | c.980T>A (p.Leu327Gln) c.1586T>A (p.Leu529Gln) | |
| 15 | g.84840259T>C | CA393373975 | ALPK3 | c.980T>C (p.Leu327Pro) c.1586T>C (p.Leu529Pro) | ClinVar dbSNP |
| 15 | g.84840259T>G | CA7709101 | ALPK3 | c.980T>G (p.Leu327Arg) c.1586T>G (p.Leu529Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840259T= | CA2192368263 | ALPK3 | c.980T= (p.Leu327=) c.1586T= (p.Leu529=) | |
| 15 | g.84840260G>A | CA492277381 | ALPK3 | c.981G>A (p.Leu327=) c.1587G>A (p.Leu529=) | |
| 15 | g.84840260G>C | CA492277382 | ALPK3 | c.981G>C (p.Leu327=) c.1587G>C (p.Leu529=) | dbSNP gnomAD v4 |
| 15 | g.84840260G= | CA2192368264 | ALPK3 | c.981G= (p.Leu327=) c.1587G= (p.Leu529=) | |
| 15 | g.84840260G>T | CA492277383 | ALPK3 | c.981G>T (p.Leu327=) c.1587G>T (p.Leu529=) | |
| 15 | g.84840261C>A | CA492277386 | ALPK3 | c.982C>A (p.Arg328=) c.1588C>A (p.Arg530=) | gnomAD v4 |
| 15 | g.84840261C= | CA2192368265 | ALPK3 | c.982C= (p.Arg328=) c.1588C= (p.Arg530=) | |
| 15 | g.84840261C>G | CA393373978 | ALPK3 | c.982C>G (p.Arg328Gly) c.1588C>G (p.Arg530Gly) | |
| 15 | g.84840261C>T | CA393373980 | ALPK3 | c.982C>T (p.Arg328Trp) c.1588C>T (p.Arg530Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840262G>A | CA393373981 | ALPK3 | c.983G>A (p.Arg328Gln) c.1589G>A (p.Arg530Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840262G>C | CA393373982 | ALPK3 | c.983G>C (p.Arg328Pro) c.1589G>C (p.Arg530Pro) | |
| 15 | g.84840262G= | CA2192368266 | ALPK3 | c.983G= (p.Arg328=) c.1589G= (p.Arg530=) | |
| 15 | g.84840262G>T | CA393373983 | ALPK3 | c.983G>T (p.Arg328Leu) c.1589G>T (p.Arg530Leu) | |
| 15 | g.84840263G>A | CA492277395 | ALPK3 | c.984G>A (p.Arg328=) c.1590G>A (p.Arg530=) | |
| 15 | g.84840263G>C | CA492277393 | ALPK3 | c.984G>C (p.Arg328=) c.1590G>C (p.Arg530=) | |
| 15 | g.84840263G>T | CA492277391 | ALPK3 | c.984G>T (p.Arg328=) c.1590G>T (p.Arg530=) | |
| 15 | g.84840264A= | CA2192368267 | ALPK3 | c.985A= (p.Lys329=) c.1591A= (p.Lys531=) | |
| 15 | g.84840264A>C | CA7709102 | ALPK3 | c.985A>C (p.Lys329Gln) c.1591A>C (p.Lys531Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840264A>G | CA393373984 | ALPK3 | c.985A>G (p.Lys329Glu) c.1591A>G (p.Lys531Glu) | |
| 15 | g.84840264A>T | CA393373985 | ALPK3 | c.985A>T (p.Lys329Ter) c.1591A>T (p.Lys531Ter) | |
| 15 | g.84840265A>C | CA393373988 | ALPK3 | c.986A>C (p.Lys329Thr) c.1592A>C (p.Lys531Thr) | gnomAD v4 |
| 15 | g.84840265A>G | CA393373990 | ALPK3 | c.986A>G (p.Lys329Arg) c.1592A>G (p.Lys531Arg) | gnomAD v4 |
| 15 | g.84840265A>T | CA393373991 | ALPK3 | c.986A>T (p.Lys329Met) c.1592A>T (p.Lys531Met) | |
| 15 | g.84840266G>A | CA492277401 | ALPK3 | c.987G>A (p.Lys329=) c.1593G>A (p.Lys531=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840266G>C | CA393373993 | ALPK3 | c.987G>C (p.Lys329Asn) c.1593G>C (p.Lys531Asn) | ClinVar dbSNP gnomAD v2 |
| 15 | g.84840266G= | CA2192368268 | ALPK3 | c.987G= (p.Lys329=) c.1593G= (p.Lys531=) | |
| 15 | g.84840266G>T | CA393373995 | ALPK3 | c.987G>T (p.Lys329Asn) c.1593G>T (p.Lys531Asn) | |
| 15 | g.84840267C>A | CA393373998 | ALPK3 | c.988C>A (p.Pro330Thr) c.1594C>A (p.Pro532Thr) | |
| 15 | g.84840267C>G | CA393373999 | ALPK3 | c.988C>G (p.Pro330Ala) c.1594C>G (p.Pro532Ala) | |
| 15 | g.84840267C>T | CA393373997 | ALPK3 | c.988C>T (p.Pro330Ser) c.1594C>T (p.Pro532Ser) | |
| 15 | g.84840268C>A | CA393374005 | ALPK3 | c.989C>A (p.Pro330Gln) c.1595C>A (p.Pro532Gln) | |
| 15 | g.84840268C>G | CA393374001 | ALPK3 | c.989C>G (p.Pro330Arg) c.1595C>G (p.Pro532Arg) | |
| 15 | g.84840268C>T | CA393374003 | ALPK3 | c.989C>T (p.Pro330Leu) c.1595C>T (p.Pro532Leu) | dbSNP gnomAD v4 |
| 15 | g.84840269A>C | CA492277409 | ALPK3 | c.990A>C (p.Pro330=) c.1596A>C (p.Pro532=) | |
| 15 | g.84840269A>G | CA492277411 | ALPK3 | c.990A>G (p.Pro330=) c.1596A>G (p.Pro532=) | |
| 15 | g.84840269A>T | CA492277412 | ALPK3 | c.990A>T (p.Pro330=) c.1596A>T (p.Pro532=) | |
| 15 | g.84840270G>A | CA393374007 | ALPK3 | c.991G>A (p.Glu331Lys) c.1597G>A (p.Glu533Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840270G>C | CA393374009 | ALPK3 | c.991G>C (p.Glu331Gln) c.1597G>C (p.Glu533Gln) | |
| 15 | g.84840270G= | CA2192368269 | ALPK3 | c.991G= (p.Glu331=) c.1597G= (p.Glu533=) | |
| 15 | g.84840270G>T | CA393374011 | ALPK3 | c.991G>T (p.Glu331Ter) c.1597G>T (p.Glu533Ter) | |
| 15 | g.84840271A>C | CA393374013 | ALPK3 | c.992A>C (p.Glu331Ala) c.1598A>C (p.Glu533Ala) | |
| 15 | g.84840271A>G | CA393374015 | ALPK3 | c.992A>G (p.Glu331Gly) c.1598A>G (p.Glu533Gly) | |
| 15 | g.84840271A>T | CA393374018 | ALPK3 | c.992A>T (p.Glu331Val) c.1598A>T (p.Glu533Val) | |
| 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) |