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.84840382_84840392del | CA2573050767 | ALPK3 | c.1103_1113del (p.Thr368ArgfsTer14) c.1709_1719del (p.Thr570ArgfsTer14) | ClinVar |
| 15 | g.84840387C>A | CA393374449 | ALPK3 | c.1108C>A (p.Pro370Thr) c.1714C>A (p.Pro572Thr) | dbSNP |
| 15 | g.84840387C= | CA2192368318 | ALPK3 | c.1108C= (p.Pro370=) c.1714C= (p.Pro572=) | |
| 15 | g.84840387C>G | CA393374451 | ALPK3 | c.1108C>G (p.Pro370Ala) c.1714C>G (p.Pro572Ala) | |
| 15 | g.84840387C>T | CA393374453 | ALPK3 | c.1108C>T (p.Pro370Ser) c.1714C>T (p.Pro572Ser) | |
| 15 | g.84840388C>A | CA393374455 | ALPK3 | c.1109C>A (p.Pro370His) c.1715C>A (p.Pro572His) | |
| 15 | g.84840388C>G | CA393374456 | ALPK3 | c.1109C>G (p.Pro370Arg) c.1715C>G (p.Pro572Arg) | |
| 15 | g.84840388C>T | CA393374457 | ALPK3 | c.1109C>T (p.Pro370Leu) c.1715C>T (p.Pro572Leu) | gnomAD v4 |
| 15 | g.84840389C>A | CA492277691 | ALPK3 | c.1110C>A (p.Pro370=) c.1716C>A (p.Pro572=) | |
| 15 | g.84840389C>G | CA492277692 | ALPK3 | c.1110C>G (p.Pro370=) c.1716C>G (p.Pro572=) | |
| 15 | g.84840389C>T | CA492277693 | ALPK3 | c.1110C>T (p.Pro370=) c.1716C>T (p.Pro572=) | |
| 15 | g.84840390A>C | CA492277695 | ALPK3 | c.1111A>C (p.Arg371=) c.1717A>C (p.Arg573=) | |
| 15 | g.84840390A>G | CA393374458 | ALPK3 | c.1111A>G (p.Arg371Gly) c.1717A>G (p.Arg573Gly) | |
| 15 | g.84840390A>T | CA393374460 | ALPK3 | c.1111A>T (p.Arg371Ter) c.1717A>T (p.Arg573Ter) | |
| 15 | g.84840391G>A | CA393374461 | ALPK3 | c.1112G>A (p.Arg371Lys) c.1718G>A (p.Arg573Lys) | |
| 15 | g.84840391G>C | CA7709123 | ALPK3 | c.1112G>C (p.Arg371Thr) c.1718G>C (p.Arg573Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840391G= | CA2192368319 | ALPK3 | c.1112G= (p.Arg371=) c.1718G= (p.Arg573=) | |
| 15 | g.84840391G>T | CA393374463 | ALPK3 | c.1112G>T (p.Arg371Ile) c.1718G>T (p.Arg573Ile) | |
| 15 | g.84840392A>C | CA393374466 | ALPK3 | c.1113A>C (p.Arg371Ser) c.1719A>C (p.Arg573Ser) | |
| 15 | g.84840392A>G | CA492277701 | ALPK3 | c.1113A>G (p.Arg371=) c.1719A>G (p.Arg573=) | |
| 15 | g.84840392A>T | CA393374468 | ALPK3 | c.1113A>T (p.Arg371Ser) c.1719A>T (p.Arg573Ser) | |
| 15 | g.84840393G>A | CA393374469 | ALPK3 | c.1114G>A (p.Gly372Ser) c.1720G>A (p.Gly574Ser) | ClinVar dbSNP |
| 15 | g.84840393G>C | CA393374471 | ALPK3 | c.1114G>C (p.Gly372Arg) c.1720G>C (p.Gly574Arg) | ClinVar gnomAD v4 |
| 15 | g.84840393G>T | CA393374473 | ALPK3 | c.1114G>T (p.Gly372Cys) c.1720G>T (p.Gly574Cys) | |
| 15 | g.84840394G>A | CA393374475 | ALPK3 | c.1115G>A (p.Gly372Asp) c.1721G>A (p.Gly574Asp) | gnomAD v4 |
| 15 | g.84840394G>C | CA393374477 | ALPK3 | c.1115G>C (p.Gly372Ala) c.1721G>C (p.Gly574Ala) | dbSNP gnomAD v4 |
| 15 | g.84840394G= | CA2192368320 | ALPK3 | c.1115G= (p.Gly372=) c.1721G= (p.Gly574=) | |
| 15 | g.84840394G>T | CA393374478 | ALPK3 | c.1115G>T (p.Gly372Val) c.1721G>T (p.Gly574Val) | |
| 15 | g.84840395C>A | CA492277710 | ALPK3 | c.1116C>A (p.Gly372=) c.1722C>A (p.Gly574=) | |
| 15 | g.84840395C= | CA2192368321 | ALPK3 | c.1116C= (p.Gly372=) c.1722C= (p.Gly574=) | |
| 15 | g.84840395C>G | CA492277711 | ALPK3 | c.1116C>G (p.Gly372=) c.1722C>G (p.Gly574=) | |
| 15 | g.84840395C>T | CA492277712 | ALPK3 | c.1116C>T (p.Gly372=) c.1722C>T (p.Gly574=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.84840396A>C | CA492277714 | ALPK3 | c.1117A>C (p.Arg373=) c.1723A>C (p.Arg575=) | |
| 15 | g.84840396A>G | CA393374479 | ALPK3 | c.1117A>G (p.Arg373Gly) c.1723A>G (p.Arg575Gly) | |
| 15 | g.84840396A>T | CA393374480 | ALPK3 | c.1117A>T (p.Arg373Trp) c.1723A>T (p.Arg575Trp) | |
| 15 | g.84840397G>A | CA393374485 | ALPK3 | c.1118G>A (p.Arg373Lys) c.1724G>A (p.Arg575Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840397G>C | CA393374482 | ALPK3 | c.1118G>C (p.Arg373Thr) c.1724G>C (p.Arg575Thr) | |
| 15 | g.84840397G= | CA2192368322 | ALPK3 | c.1118G= (p.Arg373=) c.1724G= (p.Arg575=) | |
| 15 | g.84840397G>T | CA393374484 | ALPK3 | c.1118G>T (p.Arg373Met) c.1724G>T (p.Arg575Met) | |
| 15 | g.84840398G>A | CA492277717 | ALPK3 | c.1119G>A (p.Arg373=) c.1725G>A (p.Arg575=) | dbSNP |
| 15 | g.84840398G>C | CA393374487 | ALPK3 | c.1119G>C (p.Arg373Ser) c.1725G>C (p.Arg575Ser) | |
| 15 | g.84840398G= | CA2192368323 | ALPK3 | c.1119G= (p.Arg373=) c.1725G= (p.Arg575=) | |
| 15 | g.84840398G>T | CA393374488 | ALPK3 | c.1119G>T (p.Arg373Ser) c.1725G>T (p.Arg575Ser) | |
| 15 | g.84840399G>A | CA393374491 | ALPK3 | c.1120G>A (p.Ala374Thr) c.1726G>A (p.Ala576Thr) | |
| 15 | g.84840399G>C | CA393374492 | ALPK3 | c.1120G>C (p.Ala374Pro) c.1726G>C (p.Ala576Pro) | |
| 15 | g.84840399G>T | CA393374494 | ALPK3 | c.1120G>T (p.Ala374Ser) c.1726G>T (p.Ala576Ser) | |
| 15 | g.84840400C>A | CA393374495 | ALPK3 | c.1121C>A (p.Ala374Asp) c.1727C>A (p.Ala576Asp) | |
| 15 | g.84840400C>G | CA393374497 | ALPK3 | c.1121C>G (p.Ala374Gly) c.1727C>G (p.Ala576Gly) | |
| 15 | g.84840400C>T | CA393374499 | ALPK3 | c.1121C>T (p.Ala374Val) c.1727C>T (p.Ala576Val) | |
| 15 | g.84840401T>A | CA492277724 | ALPK3 | c.1122T>A (p.Ala374=) c.1728T>A (p.Ala576=) | |
| 15 | g.84840401T>C | CA492277727 | ALPK3 | c.1122T>C (p.Ala374=) c.1728T>C (p.Ala576=) | |
| 15 | g.84840401T>G | CA492277725 | ALPK3 | c.1122T>G (p.Ala374=) c.1728T>G (p.Ala576=) | |
| 15 | g.84840402G>A | CA393374501 | ALPK3 | c.1123G>A (p.Ala375Thr) c.1729G>A (p.Ala577Thr) | gnomAD v4 COSMIC COSMIC |
| 15 | g.84840402G>C | CA393374503 | ALPK3 | c.1123G>C (p.Ala375Pro) c.1729G>C (p.Ala577Pro) | |
| 15 | g.84840402G>T | CA393374505 | ALPK3 | c.1123G>T (p.Ala375Ser) c.1729G>T (p.Ala577Ser) | |
| 15 | g.84840403C>A | CA393374509 | ALPK3 | c.1124C>A (p.Ala375Glu) c.1730C>A (p.Ala577Glu) | |
| 15 | g.84840403C>G | CA393374508 | ALPK3 | c.1124C>G (p.Ala375Gly) c.1730C>G (p.Ala577Gly) | gnomAD v4 |
| 15 | g.84840403C>T | CA393374507 | ALPK3 | c.1124C>T (p.Ala375Val) c.1730C>T (p.Ala577Val) | |
| 15 | g.84840404A= | CA2192368324 | ALPK3 | c.1125A= (p.Ala375=) c.1731A= (p.Ala577=) | |
| 15 | g.84840404A>C | CA492277729 | ALPK3 | c.1125A>C (p.Ala375=) c.1731A>C (p.Ala577=) | |
| 15 | g.84840404A>G | CA7709124 | ALPK3 | c.1125A>G (p.Ala375=) c.1731A>G (p.Ala577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840404A>T | CA492277731 | ALPK3 | c.1125A>T (p.Ala375=) c.1731A>T (p.Ala577=) | |
| 15 | g.84840405C>A | CA492277733 | ALPK3 | c.1126C>A (p.Arg376=) c.1732C>A (p.Arg578=) | |
| 15 | g.84840405C= | CA2192368325 | ALPK3 | c.1126C= (p.Arg376=) c.1732C= (p.Arg578=) | |
| 15 | g.84840405C>G | CA273665970 | ALPK3 | c.1126C>G (p.Arg376Gly) c.1732C>G (p.Arg578Gly) | dbSNP |
| 15 | g.84840405C>T | CA393374512 | ALPK3 | c.1126C>T (p.Arg376Trp) c.1732C>T (p.Arg578Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.84840406G>A | CA7709125 | ALPK3 | c.1127G>A (p.Arg376Gln) c.1733G>A (p.Arg578Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840406G>C | CA273666009 | ALPK3 | c.1127G>C (p.Arg376Pro) c.1733G>C (p.Arg578Pro) | dbSNP |
| 15 | g.84840406G= | CA2192368326 | ALPK3 | c.1127G= (p.Arg376=) c.1733G= (p.Arg578=) | |
| 15 | g.84840406G>T | CA393374515 | ALPK3 | c.1127G>T (p.Arg376Leu) c.1733G>T (p.Arg578Leu) | gnomAD v4 |
| 15 | g.84840410del | CA2580090123 | ALPK3 | c.1131del (p.Pro378LeufsTer?) c.1737del (p.Pro580LeufsTer?) | ClinVar gnomAD v4 |
| 15 | g.84840407G>A | CA492277738 | ALPK3 | c.1128G>A (p.Arg376=) c.1734G>A (p.Arg578=) | ClinVar gnomAD v4 |
| 15 | g.84840407G>C | CA492277739 | ALPK3 | c.1128G>C (p.Arg376=) c.1734G>C (p.Arg578=) | |
| 15 | g.84840407G>T | CA492277742 | ALPK3 | c.1128G>T (p.Arg376=) c.1734G>T (p.Arg578=) | |
| 15 | g.84840408G>A | CA393374518 | ALPK3 | c.1129G>A (p.Gly377Arg) c.1735G>A (p.Gly579Arg) | |
| 15 | g.84840408G>C | CA393374519 | ALPK3 | c.1129G>C (p.Gly377Arg) c.1735G>C (p.Gly579Arg) | gnomAD v4 |
| 15 | g.84840408G>T | CA393374520 | ALPK3 | c.1129G>T (p.Gly377Trp) c.1735G>T (p.Gly579Trp) | |
| 15 | g.84840409G>A | CA7709126 | ALPK3 | c.1130G>A (p.Gly377Glu) c.1736G>A (p.Gly579Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840409G>C | CA393374522 | ALPK3 | c.1130G>C (p.Gly377Ala) c.1736G>C (p.Gly579Ala) | gnomAD v4 |
| 15 | g.84840409G= | CA2192368327 | ALPK3 | c.1130G= (p.Gly377=) c.1736G= (p.Gly579=) | |
| 15 | g.84840409G>T | CA393374524 | ALPK3 | c.1130G>T (p.Gly377Val) c.1736G>T (p.Gly579Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840409_84840410delinsAC | CA2580090124 | ALPK3 | c.1130_1131delinsAC (p.Gly377Asp) c.1736_1737delinsAC (p.Gly579Asp) | ClinVar |
| 15 | g.84840410G>A | CA7709128 | ALPK3 | c.1131G>A (p.Gly377=) c.1737G>A (p.Gly579=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840410G>C | CA492277752 | ALPK3 | c.1131G>C (p.Gly377=) c.1737G>C (p.Gly579=) | gnomAD v4 |
| 15 | g.84840410G= | CA2192368329 | ALPK3 | c.1131G= (p.Gly377=) c.1737G= (p.Gly579=) | |
| 15 | g.84840410G>T | CA492277754 | ALPK3 | c.1131G>T (p.Gly377=) c.1737G>T (p.Gly579=) | ClinVar gnomAD v4 |
| 15 | g.84840410_84840420delinsGCCTGGGTCCT | CA2192368328 | ALPK3 | c.1131_1141delinsGCCTGGGTCCT (p.Gly377=) c.1737_1747delinsGCCTGGGTCCT (p.Gly579=) | |
| 15 | g.84840411C>A | CA393374533 | ALPK3 | c.1132C>A (p.Pro378Thr) c.1738C>A (p.Pro580Thr) | gnomAD v4 |
| 15 | g.84840411C>G | CA393374531 | ALPK3 | c.1132C>G (p.Pro378Ala) c.1738C>G (p.Pro580Ala) | |
| 15 | g.84840411C>T | CA393374528 | ALPK3 | c.1132C>T (p.Pro378Ser) c.1738C>T (p.Pro580Ser) | ClinVar COSMIC COSMIC |
| 15 | g.84840412_84840421del | CA7709127 | ALPK3 | c.1133_1142del (p.Pro378LeufsTer?) c.1739_1748del (p.Pro580LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840412C>A | CA393374535 | ALPK3 | c.1133C>A (p.Pro378His) c.1739C>A (p.Pro580His) | |
| 15 | g.84840412C>G | CA393374537 | ALPK3 | c.1133C>G (p.Pro378Arg) c.1739C>G (p.Pro580Arg) | |
| 15 | g.84840412C>T | CA393374538 | ALPK3 | c.1133C>T (p.Pro378Leu) c.1739C>T (p.Pro580Leu) | ClinVar |
| 15 | g.84840413T>A | CA492277765 | ALPK3 | c.1134T>A (p.Pro378=) c.1740T>A (p.Pro580=) | |
| 15 | g.84840413T>C | CA7709129 | ALPK3 | c.1134T>C (p.Pro378=) c.1740T>C (p.Pro580=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840413T>G | CA492277766 | ALPK3 | c.1134T>G (p.Pro378=) c.1740T>G (p.Pro580=) | |
| 15 | g.84840413T= | CA2192368330 | ALPK3 | c.1134T= (p.Pro378=) c.1740T= (p.Pro580=) | |
| 15 | g.84840414G>A | CA393374544 | ALPK3 | c.1135G>A (p.Gly379Arg) c.1741G>A (p.Gly581Arg) | |
| 15 | g.84840414G>C | CA393374543 | ALPK3 | c.1135G>C (p.Gly379Arg) c.1741G>C (p.Gly581Arg) | |
| 15 | g.84840414G>T | CA393374541 | ALPK3 | c.1135G>T (p.Gly379Trp) c.1741G>T (p.Gly581Trp) | |
| 15 | g.84840415G>A | CA393374545 | ALPK3 | c.1136G>A (p.Gly379Glu) c.1742G>A (p.Gly581Glu) | gnomAD v4 |
| 15 | g.84840415G>C | CA393374546 | ALPK3 | c.1136G>C (p.Gly379Ala) c.1742G>C (p.Gly581Ala) | |
| 15 | g.84840415G>T | CA393374548 | ALPK3 | c.1136G>T (p.Gly379Val) c.1742G>T (p.Gly581Val) | ClinVar dbSNP |
| 15 | g.84840416G>A | CA492277769 | ALPK3 | c.1137G>A (p.Gly379=) c.1743G>A (p.Gly581=) | |
| 15 | g.84840416G>C | CA492277773 | ALPK3 | c.1137G>C (p.Gly379=) c.1743G>C (p.Gly581=) | |
| 15 | g.84840416G>T | CA492277770 | ALPK3 | c.1137G>T (p.Gly379=) c.1743G>T (p.Gly581=) | |
| 15 | g.84840417T>A | CA393374551 | ALPK3 | c.1138T>A (p.Ser380Thr) c.1744T>A (p.Ser582Thr) | |
| 15 | g.84840417T>C | CA393374553 | ALPK3 | c.1138T>C (p.Ser380Pro) c.1744T>C (p.Ser582Pro) | |
| 15 | g.84840417T>G | CA393374555 | ALPK3 | c.1138T>G (p.Ser380Ala) c.1744T>G (p.Ser582Ala) | |
| 15 | g.84840418C>A | CA393374557 | ALPK3 | c.1139C>A (p.Ser380Tyr) c.1745C>A (p.Ser582Tyr) | |
| 15 | g.84840418C= | CA2192368331 | ALPK3 | c.1139C= (p.Ser380=) c.1745C= (p.Ser582=) | |
| 15 | g.84840418C>G | CA393374561 | ALPK3 | c.1139C>G (p.Ser380Cys) c.1745C>G (p.Ser582Cys) | dbSNP |
| 15 | g.84840418C>T | CA393374559 | ALPK3 | c.1139C>T (p.Ser380Phe) c.1745C>T (p.Ser582Phe) | |
| 15 | g.84840419C>A | CA492277779 | ALPK3 | c.1140C>A (p.Ser380=) c.1746C>A (p.Ser582=) | |
| 15 | g.84840419C>G | CA492277784 | ALPK3 | c.1140C>G (p.Ser380=) c.1746C>G (p.Ser582=) | |
| 15 | g.84840419C>T | CA492277786 | ALPK3 | c.1140C>T (p.Ser380=) c.1746C>T (p.Ser582=) | |
| 15 | g.84840420T>A | CA393374562 | ALPK3 | c.1141T>A (p.Ser381Thr) c.1747T>A (p.Ser583Thr) | |
| 15 | g.84840420T>C | CA393374564 | ALPK3 | c.1141T>C (p.Ser381Pro) c.1747T>C (p.Ser583Pro) | gnomAD v4 |
| 15 | g.84840420T>G | CA393374565 | ALPK3 | c.1141T>G (p.Ser381Ala) c.1747T>G (p.Ser583Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840420T= | CA2192368332 | ALPK3 | c.1141T= (p.Ser381=) c.1747T= (p.Ser583=) | |
| 15 | g.84840421C>A | CA393374567 | ALPK3 | c.1142C>A (p.Ser381Tyr) c.1748C>A (p.Ser583Tyr) | |
| 15 | g.84840421C>G | CA393374569 | ALPK3 | c.1142C>G (p.Ser381Cys) c.1748C>G (p.Ser583Cys) | ClinVar |
| 15 | g.84840421C>T | CA393374570 | ALPK3 | c.1142C>T (p.Ser381Phe) c.1748C>T (p.Ser583Phe) | gnomAD v4 |
| 15 | g.84840422T>A | CA492277793 | ALPK3 | c.1143T>A (p.Ser381=) c.1749T>A (p.Ser583=) | |
| 15 | g.84840422T>C | CA492277796 | ALPK3 | c.1143T>C (p.Ser381=) c.1749T>C (p.Ser583=) | gnomAD v4 |
| 15 | g.84840422T>G | CA492277794 | ALPK3 | c.1143T>G (p.Ser381=) c.1749T>G (p.Ser583=) | |
| 15 | g.84840423G>A | CA393374572 | ALPK3 | c.1144G>A (p.Gly382Ser) c.1750G>A (p.Gly584Ser) | |
| 15 | g.84840423G>C | CA393374574 | ALPK3 | c.1144G>C (p.Gly382Arg) c.1750G>C (p.Gly584Arg) | |
| 15 | g.84840423G>T | CA393374576 | ALPK3 | c.1144G>T (p.Gly382Cys) c.1750G>T (p.Gly584Cys) | |
| 15 | g.84840424G>A | CA393374578 | ALPK3 | c.1145G>A (p.Gly382Asp) c.1751G>A (p.Gly584Asp) | |
| 15 | g.84840424G>C | CA393374580 | ALPK3 | c.1145G>C (p.Gly382Ala) c.1751G>C (p.Gly584Ala) | |
| 15 | g.84840424G>T | CA393374581 | ALPK3 | c.1145G>T (p.Gly382Val) c.1751G>T (p.Gly584Val) | ClinVar |
| 15 | g.84840425C>A | CA492277806 | ALPK3 | c.1146C>A (p.Gly382=) c.1752C>A (p.Gly584=) | |
| 15 | g.84840425C= | CA2192368333 | ALPK3 | c.1146C= (p.Gly382=) c.1752C= (p.Gly584=) | |
| 15 | g.84840425C>G | CA492277807 | ALPK3 | c.1146C>G (p.Gly382=) c.1752C>G (p.Gly584=) | |
| 15 | g.84840425C>T | CA7709130 | ALPK3 | c.1146C>T (p.Gly382=) c.1752C>T (p.Gly584=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840426A>C | CA393374583 | ALPK3 | c.1147A>C (p.Thr383Pro) c.1753A>C (p.Thr585Pro) | |
| 15 | g.84840426A>G | CA393374586 | ALPK3 | c.1147A>G (p.Thr383Ala) c.1753A>G (p.Thr585Ala) | |
| 15 | g.84840426A>T | CA393374585 | ALPK3 | c.1147A>T (p.Thr383Ser) c.1753A>T (p.Thr585Ser) | |
| 15 | g.84840427C>A | CA393374588 | ALPK3 | c.1148C>A (p.Thr383Lys) c.1754C>A (p.Thr585Lys) | |
| 15 | g.84840427C= | CA2192368334 | ALPK3 | c.1148C= (p.Thr383=) c.1754C= (p.Thr585=) | |
| 15 | g.84840427C>G | CA393374590 | ALPK3 | c.1148C>G (p.Thr383Arg) c.1754C>G (p.Thr585Arg) | |
| 15 | g.84840427C>T | CA7709131 | ALPK3 | c.1148C>T (p.Thr383Ile) c.1754C>T (p.Thr585Ile) | dbSNP ExAC gnomAD v2 |
| 15 | g.84840428A>C | CA492277814 | ALPK3 | c.1149A>C (p.Thr383=) c.1755A>C (p.Thr585=) | |
| 15 | g.84840428A>G | CA492277816 | ALPK3 | c.1149A>G (p.Thr383=) c.1755A>G (p.Thr585=) | |
| 15 | g.84840428A>T | CA492277817 | ALPK3 | c.1149A>T (p.Thr383=) c.1755A>T (p.Thr585=) | |
| 15 | g.84840429G>A | CA393374592 | ALPK3 | c.1150G>A (p.Asp384Asn) c.1756G>A (p.Asp586Asn) | |
| 15 | g.84840429G>C | CA393374593 | ALPK3 | c.1150G>C (p.Asp384His) c.1756G>C (p.Asp586His) | |
| 15 | g.84840429G>T | CA393374595 | ALPK3 | c.1150G>T (p.Asp384Tyr) c.1756G>T (p.Asp586Tyr) | |
| 15 | g.84840430A= | CA2192368335 | ALPK3 | c.1151A= (p.Asp384=) c.1757A= (p.Asp586=) | |
| 15 | g.84840430A>C | CA393374597 | ALPK3 | c.1151A>C (p.Asp384Ala) c.1757A>C (p.Asp586Ala) | gnomAD v4 |
| 15 | g.84840430A>G | CA393374598 | ALPK3 | c.1151A>G (p.Asp384Gly) c.1757A>G (p.Asp586Gly) | dbSNP gnomAD v4 |
| 15 | g.84840430A>T | CA393374600 | ALPK3 | c.1151A>T (p.Asp384Val) c.1757A>T (p.Asp586Val) | |
| 15 | g.84840431T>A | CA393374602 | ALPK3 | c.1152T>A (p.Asp384Glu) c.1758T>A (p.Asp586Glu) | |
| 15 | g.84840431T>C | CA273666031 | ALPK3 | c.1152T>C (p.Asp384=) c.1758T>C (p.Asp586=) | dbSNP |
| 15 | g.84840431T>G | CA393374604 | ALPK3 | c.1152T>G (p.Asp384Glu) c.1758T>G (p.Asp586Glu) | |
| 15 | g.84840431T= | CA2192368336 | ALPK3 | c.1152T= (p.Asp384=) c.1758T= (p.Asp586=) | |
| 15 | g.84840432A>C | CA393374608 | ALPK3 | c.1153A>C (p.Ser385Arg) c.1759A>C (p.Ser587Arg) | |
| 15 | g.84840432A>G | CA393374609 | ALPK3 | c.1153A>G (p.Ser385Gly) c.1759A>G (p.Ser587Gly) | gnomAD v4 |
| 15 | g.84840432A>T | CA393374606 | ALPK3 | c.1153A>T (p.Ser385Cys) c.1759A>T (p.Ser587Cys) | |
| 15 | g.84840433G>A | CA393374612 | ALPK3 | c.1154G>A (p.Ser385Asn) c.1760G>A (p.Ser587Asn) | |
| 15 | g.84840433G>C | CA393374610 | ALPK3 | c.1154G>C (p.Ser385Thr) c.1760G>C (p.Ser587Thr) | |
| 15 | g.84840433G>T | CA393374614 | ALPK3 | c.1154G>T (p.Ser385Ile) c.1760G>T (p.Ser587Ile) | |
| 15 | g.84840434T>A | CA393374615 | ALPK3 | c.1155T>A (p.Ser385Arg) c.1761T>A (p.Ser587Arg) | |
| 15 | g.84840434T>C | CA492277829 | ALPK3 | c.1155T>C (p.Ser385=) c.1761T>C (p.Ser587=) | |
| 15 | g.84840434T>G | CA393374617 | ALPK3 | c.1155T>G (p.Ser385Arg) c.1761T>G (p.Ser587Arg) | |
| 15 | g.84840435A= | CA2192368337 | ALPK3 | c.1156A= (p.Thr386=) c.1762A= (p.Thr588=) | |
| 15 | g.84840435A>C | CA393374619 | ALPK3 | c.1156A>C (p.Thr386Pro) c.1762A>C (p.Thr588Pro) | |
| 15 | g.84840435A>G | CA7709132 | ALPK3 | c.1156A>G (p.Thr386Ala) c.1762A>G (p.Thr588Ala) | dbSNP ExAC gnomAD v2 |
| 15 | g.84840435A>T | CA393374620 | ALPK3 | c.1156A>T (p.Thr386Ser) c.1762A>T (p.Thr588Ser) | |
| 15 | g.84840436C>A | CA393374623 | ALPK3 | c.1157C>A (p.Thr386Asn) c.1763C>A (p.Thr588Asn) | |
| 15 | g.84840436C>G | CA393374625 | ALPK3 | c.1157C>G (p.Thr386Ser) c.1763C>G (p.Thr588Ser) | |
| 15 | g.84840436C>T | CA393374627 | ALPK3 | c.1157C>T (p.Thr386Ile) c.1763C>T (p.Thr588Ile) | |
| 15 | g.84840437del | CA2630109269 | ALPK3 | c.1158del (p.Arg387GlyfsTer29) c.1764del (p.Arg589GlyfsTer29) | gnomAD v4 |
| 15 | g.84840437C>A | CA492277834 | ALPK3 | c.1158C>A (p.Thr386=) c.1764C>A (p.Thr588=) | |
| 15 | g.84840437C= | CA2192368338 | ALPK3 | c.1158C= (p.Thr386=) c.1764C= (p.Thr588=) | |
| 15 | g.84840437C>G | CA492277836 | ALPK3 | c.1158C>G (p.Thr386=) c.1764C>G (p.Thr588=) | |
| 15 | g.84840437C>T | CA7709133 | ALPK3 | c.1158C>T (p.Thr386=) c.1764C>T (p.Thr588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840438A= | CA2192368339 | ALPK3 | c.1159A= (p.Arg387=) c.1765A= (p.Arg589=) | |
| 15 | g.84840438A>C | CA492277837 | ALPK3 | c.1159A>C (p.Arg387=) c.1765A>C (p.Arg589=) | |
| 15 | g.84840438A>G | CA393374630 | ALPK3 | c.1159A>G (p.Arg387Gly) c.1765A>G (p.Arg589Gly) | dbSNP gnomAD v4 |
| 15 | g.84840438A>T | CA393374631 | ALPK3 | c.1159A>T (p.Arg387Trp) c.1765A>T (p.Arg589Trp) | |
| 15 | g.84840439G>A | CA393374633 | ALPK3 | c.1160G>A (p.Arg387Lys) c.1766G>A (p.Arg589Lys) | gnomAD v4 |
| 15 | g.84840439G>C | CA393374635 | ALPK3 | c.1160G>C (p.Arg387Thr) c.1766G>C (p.Arg589Thr) | |
| 15 | g.84840439G>T | CA393374636 | ALPK3 | c.1160G>T (p.Arg387Met) c.1766G>T (p.Arg589Met) | |
| 15 | g.84840440G>A | CA492277843 | ALPK3 | c.1161G>A (p.Arg387=) c.1767G>A (p.Arg589=) | |
| 15 | g.84840440G>C | CA393374639 | ALPK3 | c.1161G>C (p.Arg387Ser) c.1767G>C (p.Arg589Ser) | |
| 15 | g.84840440G>T | CA393374640 | ALPK3 | c.1161G>T (p.Arg387Ser) c.1767G>T (p.Arg589Ser) | |
| 15 | g.84840441A= | CA2192368340 | ALPK3 | c.1162A= (p.Lys388=) c.1768A= (p.Lys590=) | |
| 15 | g.84840441A>C | CA393374644 | ALPK3 | c.1162A>C (p.Lys388Gln) c.1768A>C (p.Lys590Gln) | dbSNP gnomAD v4 |
| 15 | g.84840441A>G | CA393374643 | ALPK3 | c.1162A>G (p.Lys388Glu) c.1768A>G (p.Lys590Glu) | |
| 15 | g.84840441A>T | CA393374642 | ALPK3 | c.1162A>T (p.Lys388Ter) c.1768A>T (p.Lys590Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840442A= | CA2192368341 | ALPK3 | c.1163A= (p.Lys388=) c.1769A= (p.Lys590=) | |
| 15 | g.84840442A>C | CA393374645 | ALPK3 | c.1163A>C (p.Lys388Thr) c.1769A>C (p.Lys590Thr) | |
| 15 | g.84840442A>G | CA393374646 | ALPK3 | c.1163A>G (p.Lys388Arg) c.1769A>G (p.Lys590Arg) | |
| 15 | g.84840442A>T | CA393374647 | ALPK3 | c.1163A>T (p.Lys388Met) c.1769A>T (p.Lys590Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840443G>A | CA492277848 | ALPK3 | c.1164G>A (p.Lys388=) c.1770G>A (p.Lys590=) | |
| 15 | g.84840443G>C | CA393374648 | ALPK3 | c.1164G>C (p.Lys388Asn) c.1770G>C (p.Lys590Asn) | |
| 15 | g.84840443G>T | CA393374650 | ALPK3 | c.1164G>T (p.Lys388Asn) c.1770G>T (p.Lys590Asn) | |
| 15 | g.84840444C>A | CA393374652 | ALPK3 | c.1165C>A (p.Pro389Thr) c.1771C>A (p.Pro591Thr) | |
| 15 | g.84840444C>G | CA393374660 | ALPK3 | c.1165C>G (p.Pro389Ala) c.1771C>G (p.Pro591Ala) | gnomAD v4 |
| 15 | g.84840444C>T | CA393374661 | ALPK3 | c.1165C>T (p.Pro389Ser) c.1771C>T (p.Pro591Ser) | |
| 15 | g.84840445C>A | CA393374663 | ALPK3 | c.1166C>A (p.Pro389Gln) c.1772C>A (p.Pro591Gln) | |
| 15 | g.84840445C>G | CA393374665 | ALPK3 | c.1166C>G (p.Pro389Arg) c.1772C>G (p.Pro591Arg) | |
| 15 | g.84840445C>T | CA393374667 | ALPK3 | c.1166C>T (p.Pro389Leu) c.1772C>T (p.Pro591Leu) | |
| 15 | g.84840446A>C | CA492277860 | ALPK3 | c.1167A>C (p.Pro389=) c.1773A>C (p.Pro591=) | |
| 15 | g.84840446A>G | CA492277858 | ALPK3 | c.1167A>G (p.Pro389=) c.1773A>G (p.Pro591=) | |
| 15 | g.84840446A>T | CA492277857 | ALPK3 | c.1167A>T (p.Pro389=) c.1773A>T (p.Pro591=) | |
| 15 | g.84840447G>A | CA7709134 | ALPK3 | c.1168G>A (p.Ala390Thr) c.1774G>A (p.Ala592Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840447G>C | CA393374670 | ALPK3 | c.1168G>C (p.Ala390Pro) c.1774G>C (p.Ala592Pro) | |
| 15 | g.84840447G= | CA2192368342 | ALPK3 | c.1168G= (p.Ala390=) c.1774G= (p.Ala592=) | |
| 15 | g.84840447G>T | CA393374669 | ALPK3 | c.1168G>T (p.Ala390Ser) c.1774G>T (p.Ala592Ser) | |
| 15 | g.84840447_84840448delinsGC | CA2192368343 | ALPK3 | c.1168_1169delinsGC (p.Ala390=) c.1774_1775delinsGC (p.Ala592=) | |
| 15 | g.84840448C>A | CA393374672 | ALPK3 | c.1169C>A (p.Ala390Asp) c.1775C>A (p.Ala592Asp) | |
| 15 | g.84840448C= | CA2192368344 | ALPK3 | c.1169C= (p.Ala390=) c.1775C= (p.Ala592=) | |
| 15 | g.84840448C>G | CA393374674 | ALPK3 | c.1169C>G (p.Ala390Gly) c.1775C>G (p.Ala592Gly) | dbSNP |
| 15 | g.84840448C>T | CA393374676 | ALPK3 | c.1169C>T (p.Ala390Val) c.1775C>T (p.Ala592Val) | gnomAD v4 |
| 15 | g.84840449del | CA919606912 | ALPK3 | c.1170del (p.Ser391LeufsTer25) c.1776del (p.Ser593LeufsTer25) | dbSNP |
| 15 | g.84840449C>A | CA492277864 | ALPK3 | c.1170C>A (p.Ala390=) c.1776C>A (p.Ala592=) | COSMIC COSMIC |
| 15 | g.84840449C>G | CA492277865 | ALPK3 | c.1170C>G (p.Ala390=) c.1776C>G (p.Ala592=) | |
| 15 | g.84840449C>T | CA492277866 | ALPK3 | c.1170C>T (p.Ala390=) c.1776C>T (p.Ala592=) | |
| 15 | g.84840450T>A | CA393374677 | ALPK3 | c.1171T>A (p.Ser391Thr) c.1777T>A (p.Ser593Thr) | |
| 15 | g.84840450T>C | CA393374682 | ALPK3 | c.1171T>C (p.Ser391Pro) c.1777T>C (p.Ser593Pro) | |
| 15 | g.84840450T>G | CA393374683 | ALPK3 | c.1171T>G (p.Ser391Ala) c.1777T>G (p.Ser593Ala) | |
| 15 | g.84840450_84840453delinsTCTG | CA2192368345 | ALPK3 | c.1171_1174delinsTCTG (p.Ser391=) c.1777_1780delinsTCTG (p.Ser593=) | |
| 15 | g.84840451C>A | CA393374684 | ALPK3 | c.1172C>A (p.Ser391Tyr) c.1778C>A (p.Ser593Tyr) | |
| 15 | g.84840451C= | CA2192368347 | ALPK3 | c.1172C= (p.Ser391=) c.1778C= (p.Ser593=) | |
| 15 | g.84840451C>G | CA393374685 | ALPK3 | c.1172C>G (p.Ser391Cys) c.1778C>G (p.Ser593Cys) | gnomAD v3 gnomAD v4 |
| 15 | g.84840451C>T | CA7709135 | ALPK3 | c.1172C>T (p.Ser391Phe) c.1778C>T (p.Ser593Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840454_84840456del | CA2192368346 | ALPK3 | c.1175_1177del (p.Ala392del) c.1781_1783del (p.Ala594del) | dbSNP |
| 15 | g.84840452T>A | CA492277870 | ALPK3 | c.1173T>A (p.Ser391=) c.1779T>A (p.Ser593=) | |
| 15 | g.84840452T>C | CA492277871 | ALPK3 | c.1173T>C (p.Ser391=) c.1779T>C (p.Ser593=) | gnomAD v4 |
| 15 | g.84840452T>G | CA492277874 | ALPK3 | c.1173T>G (p.Ser391=) c.1779T>G (p.Ser593=) | |
| 15 | g.84840453G>A | CA393374686 | ALPK3 | c.1174G>A (p.Ala392Thr) c.1780G>A (p.Ala594Thr) | |
| 15 | g.84840453G>C | CA393374687 | ALPK3 | c.1174G>C (p.Ala392Pro) c.1780G>C (p.Ala594Pro) | |
| 15 | g.84840453G>T | CA393374688 | ALPK3 | c.1174G>T (p.Ala392Ser) c.1780G>T (p.Ala594Ser) | |
| 15 | g.84840454C>A | CA393374690 | ALPK3 | c.1175C>A (p.Ala392Asp) c.1781C>A (p.Ala594Asp) | |
| 15 | g.84840454C= | CA2192368348 | ALPK3 | c.1175C= (p.Ala392=) c.1781C= (p.Ala594=) | |
| 15 | g.84840454C>G | CA393374689 | ALPK3 | c.1175C>G (p.Ala392Gly) c.1781C>G (p.Ala594Gly) | |
| 15 | g.84840454C>T | CA7709136 | ALPK3 | c.1175C>T (p.Ala392Val) c.1781C>T (p.Ala594Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840455T>A | CA492277879 | ALPK3 | c.1176T>A (p.Ala392=) c.1782T>A (p.Ala594=) | |
| 15 | g.84840455T>C | CA492277880 | ALPK3 | c.1176T>C (p.Ala392=) c.1782T>C (p.Ala594=) | |
| 15 | g.84840455T>G | CA492277881 | ALPK3 | c.1176T>G (p.Ala392=) c.1782T>G (p.Ala594=) | |
| 15 | g.84840455dup | CA2575820490 | ALPK3 | c.1176dup (p.Val393CysfsTer?) c.1782dup (p.Val595CysfsTer?) | |
| 15 | g.84840456G>A | CA393374691 | ALPK3 | c.1177G>A (p.Val393Met) c.1783G>A (p.Val595Met) | |
| 15 | g.84840456G>C | CA393374692 | ALPK3 | c.1177G>C (p.Val393Leu) c.1783G>C (p.Val595Leu) | ClinVar |
| 15 | g.84840456G>T | CA393374693 | ALPK3 | c.1177G>T (p.Val393Leu) c.1783G>T (p.Val595Leu) | |
| 15 | g.84840457T>A | CA393374694 | ALPK3 | c.1178T>A (p.Val393Glu) c.1784T>A (p.Val595Glu) | |
| 15 | g.84840457T>C | CA393374695 | ALPK3 | c.1178T>C (p.Val393Ala) c.1784T>C (p.Val595Ala) | |
| 15 | g.84840457T>G | CA393374696 | ALPK3 | c.1178T>G (p.Val393Gly) c.1784T>G (p.Val595Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840457T= | CA2192368349 | ALPK3 | c.1178T= (p.Val393=) c.1784T= (p.Val595=) | |
| 15 | g.84840458G>A | CA492277247 | ALPK3 | c.1179G>A (p.Val393=) c.1785G>A (p.Val595=) | |
| 15 | g.84840458G>C | CA492277248 | ALPK3 | c.1179G>C (p.Val393=) c.1785G>C (p.Val595=) | |
| 15 | g.84840458G>T | CA492277249 | ALPK3 | c.1179G>T (p.Val393=) c.1785G>T (p.Val595=) | |
| 15 | g.84840459G>A | CA393374697 | ALPK3 | c.1180G>A (p.Gly394Ser) c.1786G>A (p.Gly596Ser) | gnomAD v4 |
| 15 | g.84840459G>C | CA393374698 | ALPK3 | c.1180G>C (p.Gly394Arg) c.1786G>C (p.Gly596Arg) | |
| 15 | g.84840459G>T | CA393374699 | ALPK3 | c.1180G>T (p.Gly394Cys) c.1786G>T (p.Gly596Cys) | |
| 15 | g.84840460G>A | CA393374700 | ALPK3 | c.1181G>A (p.Gly394Asp) c.1787G>A (p.Gly596Asp) | dbSNP gnomAD v2 |
| 15 | g.84840460G>C | CA393374701 | ALPK3 | c.1181G>C (p.Gly394Ala) c.1787G>C (p.Gly596Ala) | |
| 15 | g.84840460G= | CA2192368350 | ALPK3 | c.1181G= (p.Gly394=) c.1787G= (p.Gly596=) | |
| 15 | g.84840460G>T | CA393374702 | ALPK3 | c.1181G>T (p.Gly394Val) c.1787G>T (p.Gly596Val) | |
| 15 | g.84840461C>A | CA492277252 | ALPK3 | c.1182C>A (p.Gly394=) c.1788C>A (p.Gly596=) | |
| 15 | g.84840461C>G | CA492277251 | ALPK3 | c.1182C>G (p.Gly394=) c.1788C>G (p.Gly596=) | |
| 15 | g.84840461C>T | CA492277250 | ALPK3 | c.1182C>T (p.Gly394=) c.1788C>T (p.Gly596=) | |
| 15 | g.84840462A= | CA2192368351 | ALPK3 | c.1183A= (p.Thr395=) c.1789A= (p.Thr597=) | |
| 15 | g.84840462A>C | CA393374704 | ALPK3 | c.1183A>C (p.Thr395Pro) c.1789A>C (p.Thr597Pro) | |
| 15 | g.84840462A>G | CA393374705 | ALPK3 | c.1183A>G (p.Thr395Ala) c.1789A>G (p.Thr597Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840462A>T | CA393374703 | ALPK3 | c.1183A>T (p.Thr395Ser) c.1789A>T (p.Thr597Ser) | |
| 15 | g.84840463C>A | CA393374708 | ALPK3 | c.1184C>A (p.Thr395Asn) c.1790C>A (p.Thr597Asn) | |
| 15 | g.84840463C>G | CA393374706 | ALPK3 | c.1184C>G (p.Thr395Ser) c.1790C>G (p.Thr597Ser) | |
| 15 | g.84840463C>T | CA393374707 | ALPK3 | c.1184C>T (p.Thr395Ile) c.1790C>T (p.Thr597Ile) | |
| 15 | g.84840464T>A | CA492277253 | ALPK3 | c.1185T>A (p.Thr395=) c.1791T>A (p.Thr597=) | |
| 15 | g.84840464T>C | CA492277254 | ALPK3 | c.1185T>C (p.Thr395=) c.1791T>C (p.Thr597=) | |
| 15 | g.84840464T>G | CA492277255 | ALPK3 | c.1185T>G (p.Thr395=) c.1791T>G (p.Thr597=) | |
| 15 | g.84840465C>A | CA393374709 | ALPK3 | c.1186C>A (p.Pro396Thr) c.1792C>A (p.Pro598Thr) | gnomAD v4 |
| 15 | g.84840465C>G | CA393374710 | ALPK3 | c.1186C>G (p.Pro396Ala) c.1792C>G (p.Pro598Ala) | gnomAD v4 |
| 15 | g.84840465C>T | CA393374711 | ALPK3 | c.1186C>T (p.Pro396Ser) c.1792C>T (p.Pro598Ser) | ClinVar |
| 15 | g.84840466C>A | CA393374712 | ALPK3 | c.1187C>A (p.Pro396Gln) c.1793C>A (p.Pro598Gln) | |
| 15 | g.84840466C>G | CA393374713 | ALPK3 | c.1187C>G (p.Pro396Arg) c.1793C>G (p.Pro598Arg) | |
| 15 | g.84840466C>T | CA393374714 | ALPK3 | c.1187C>T (p.Pro396Leu) c.1793C>T (p.Pro598Leu) | |
| 15 | g.84840467A>C | CA492277258 | ALPK3 | c.1188A>C (p.Pro396=) c.1794A>C (p.Pro598=) | |
| 15 | g.84840467A>G | CA492277257 | ALPK3 | c.1188A>G (p.Pro396=) c.1794A>G (p.Pro598=) | gnomAD v4 |
| 15 | g.84840467A>T | CA492277256 | ALPK3 | c.1188A>T (p.Pro396=) c.1794A>T (p.Pro598=) | |
| 15 | g.84840468G>A | CA393374715 | ALPK3 | c.1189G>A (p.Asp397Asn) c.1795G>A (p.Asp599Asn) | |
| 15 | g.84840468G>C | CA7709137 | ALPK3 | c.1189G>C (p.Asp397His) c.1795G>C (p.Asp599His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840468G= | CA2192368352 | ALPK3 | c.1189G= (p.Asp397=) c.1795G= (p.Asp599=) | |
| 15 | g.84840468G>T | CA393374716 | ALPK3 | c.1189G>T (p.Asp397Tyr) c.1795G>T (p.Asp599Tyr) | |
| 15 | g.84840469A>C | CA393374725 | ALPK3 | c.1190A>C (p.Asp397Ala) c.1796A>C (p.Asp599Ala) | |
| 15 | g.84840469A>G | CA393374723 | ALPK3 | c.1190A>G (p.Asp397Gly) c.1796A>G (p.Asp599Gly) | |
| 15 | g.84840469A>T | CA393374717 | ALPK3 | c.1190A>T (p.Asp397Val) c.1796A>T (p.Asp599Val) | |
| 15 | g.84840470C>A | CA393374727 | ALPK3 | c.1191C>A (p.Asp397Glu) c.1797C>A (p.Asp599Glu) | |
| 15 | g.84840470C>G | CA393374729 | ALPK3 | c.1191C>G (p.Asp397Glu) c.1797C>G (p.Asp599Glu) | |
| 15 | g.84840470C>T | CA492277259 | ALPK3 | c.1191C>T (p.Asp397=) c.1797C>T (p.Asp599=) | |
| 15 | g.84840471A>C | CA393374731 | ALPK3 | c.1192A>C (p.Lys398Gln) c.1798A>C (p.Lys600Gln) | |
| 15 | g.84840471A>G | CA393374732 | ALPK3 | c.1192A>G (p.Lys398Glu) c.1798A>G (p.Lys600Glu) | ClinVar |
| 15 | g.84840471A>T | CA393374734 | ALPK3 | c.1192A>T (p.Lys398Ter) c.1798A>T (p.Lys600Ter) | |
| 15 | g.84840472A>C | CA393374736 | ALPK3 | c.1193A>C (p.Lys398Thr) c.1799A>C (p.Lys600Thr) | |
| 15 | g.84840472A>G | CA393374741 | ALPK3 | c.1193A>G (p.Lys398Arg) c.1799A>G (p.Lys600Arg) | |
| 15 | g.84840472A>T | CA393374743 | ALPK3 | c.1193A>T (p.Lys398Met) c.1799A>T (p.Lys600Met) | |
| 15 | g.84840473G>A | CA492277260 | ALPK3 | c.1194G>A (p.Lys398=) c.1800G>A (p.Lys600=) | |
| 15 | g.84840473G>C | CA393374745 | ALPK3 | c.1194G>C (p.Lys398Asn) c.1800G>C (p.Lys600Asn) | |
| 15 | g.84840473G>T | CA393374747 | ALPK3 | c.1194G>T (p.Lys398Asn) c.1800G>T (p.Lys600Asn) | |
| 15 | g.84840474G>A | CA393374749 | ALPK3 | c.1195G>A (p.Ala399Thr) c.1801G>A (p.Ala601Thr) | gnomAD v4 |
| 15 | g.84840474G>C | CA393374751 | ALPK3 | c.1195G>C (p.Ala399Pro) c.1801G>C (p.Ala601Pro) | |
| 15 | g.84840474G>T | CA393374753 | ALPK3 | c.1195G>T (p.Ala399Ser) c.1801G>T (p.Ala601Ser) | |
| 15 | g.84840475C>A | CA393374756 | ALPK3 | c.1196C>A (p.Ala399Asp) c.1802C>A (p.Ala601Asp) | |
| 15 | g.84840475C>G | CA393374759 | ALPK3 | c.1196C>G (p.Ala399Gly) c.1802C>G (p.Ala601Gly) | |
| 15 | g.84840475C>T | CA393374755 | ALPK3 | c.1196C>T (p.Ala399Val) c.1802C>T (p.Ala601Val) | |
| 15 | g.84840476C>A | CA492277261 | ALPK3 | c.1197C>A (p.Ala399=) c.1803C>A (p.Ala601=) | |
| 15 | g.84840476C>G | CA492277262 | ALPK3 | c.1197C>G (p.Ala399=) c.1803C>G (p.Ala601=) | |
| 15 | g.84840476C>T | CA492277263 | ALPK3 | c.1197C>T (p.Ala399=) c.1803C>T (p.Ala601=) | |
| 15 | g.84840477C>A | CA393374760 | ALPK3 | c.1198C>A (p.Gln400Lys) c.1804C>A (p.Gln602Lys) | |
| 15 | g.84840477C>G | CA393374761 | ALPK3 | c.1198C>G (p.Gln400Glu) c.1804C>G (p.Gln602Glu) | |
| 15 | g.84840477C>T | CA393374763 | ALPK3 | c.1198C>T (p.Gln400Ter) c.1804C>T (p.Gln602Ter) | |
| 15 | g.84840478A= | CA2192368353 | ALPK3 | c.1199A= (p.Gln400=) c.1805A= (p.Gln602=) | |
| 15 | g.84840478A>C | CA393374765 | ALPK3 | c.1199A>C (p.Gln400Pro) c.1805A>C (p.Gln602Pro) | |
| 15 | g.84840478A>G | CA7709138 | ALPK3 | c.1199A>G (p.Gln400Arg) c.1805A>G (p.Gln602Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840478A>T | CA393374767 | ALPK3 | c.1199A>T (p.Gln400Leu) c.1805A>T (p.Gln602Leu) | |
| 15 | g.84840479G>A | CA492277264 | ALPK3 | c.1200G>A (p.Gln400=) c.1806G>A (p.Gln602=) | |
| 15 | g.84840479G>C | CA393374768 | ALPK3 | c.1200G>C (p.Gln400His) c.1806G>C (p.Gln602His) | gnomAD v4 |
| 15 | g.84840479G>T | CA393374770 | ALPK3 | c.1200G>T (p.Gln400His) c.1806G>T (p.Gln602His) | |
| 15 | g.84840480A= | CA2192368354 | ALPK3 | c.1201A= (p.Lys401=) c.1807A= (p.Lys603=) | |
| 15 | g.84840480A>C | CA393374772 | ALPK3 | c.1201A>C (p.Lys401Gln) c.1807A>C (p.Lys603Gln) | |
| 15 | g.84840480A>G | CA393374774 | ALPK3 | c.1201A>G (p.Lys401Glu) c.1807A>G (p.Lys603Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840480A>T | CA393374775 | ALPK3 | c.1201A>T (p.Lys401Ter) c.1807A>T (p.Lys603Ter) | |
| 15 | g.84840481A>C | CA393374776 | ALPK3 | c.1202A>C (p.Lys401Thr) c.1808A>C (p.Lys603Thr) | |
| 15 | g.84840481A>G | CA393374778 | ALPK3 | c.1202A>G (p.Lys401Arg) c.1808A>G (p.Lys603Arg) | |
| 15 | g.84840481A>T | CA393374780 | ALPK3 | c.1202A>T (p.Lys401Met) c.1808A>T (p.Lys603Met) | |
| 15 | g.84840482G>A | CA492277265 | ALPK3 | c.1203G>A (p.Lys401=) c.1809G>A (p.Lys603=) | |
| 15 | g.84840482G>C | CA393374786 | ALPK3 | c.1203G>C (p.Lys401Asn) c.1809G>C (p.Lys603Asn) | |
| 15 | g.84840482G>T | CA393374787 | ALPK3 | c.1203G>T (p.Lys401Asn) c.1809G>T (p.Lys603Asn) | |
| 15 | g.84840483del | CA2575820491 | ALPK3 | c.1204del (p.Ala402ProfsTer14) c.1810del (p.Ala604ProfsTer14) | gnomAD v4 |
| 15 | g.84840483G>A | CA393374789 | ALPK3 | c.1204G>A (p.Ala402Thr) c.1810G>A (p.Ala604Thr) | |
| 15 | g.84840483G>C | CA393374790 | ALPK3 | c.1204G>C (p.Ala402Pro) c.1810G>C (p.Ala604Pro) | gnomAD v4 |
| 15 | g.84840483G>T | CA393374792 | ALPK3 | c.1204G>T (p.Ala402Ser) c.1810G>T (p.Ala604Ser) | ClinVar COSMIC COSMIC |
| 15 | g.84840484C>A | CA393374794 | ALPK3 | c.1205C>A (p.Ala402Asp) c.1811C>A (p.Ala604Asp) | |
| 15 | g.84840484C= | CA2192368355 | ALPK3 | c.1205C= (p.Ala402=) c.1811C= (p.Ala604=) | |
| 15 | g.84840484C>G | CA393374796 | ALPK3 | c.1205C>G (p.Ala402Gly) c.1811C>G (p.Ala604Gly) | |
| 15 | g.84840484C>T | CA393374797 | ALPK3 | c.1205C>T (p.Ala402Val) c.1811C>T (p.Ala604Val) | |
| 15 | g.84840487dup | CA2630109270 | ALPK3 | c.1208dup (p.Gly404TrpfsTer?) c.1814dup (p.Gly606TrpfsTer?) | gnomAD v4 |
| 15 | g.84840485C>A | CA492277266 | ALPK3 | c.1206C>A (p.Ala402=) c.1812C>A (p.Ala604=) | |
| 15 | g.84840485C= | CA2192368357 | ALPK3 | c.1206C= (p.Ala402=) c.1812C= (p.Ala604=) | |
| 15 | g.84840485C>G | CA7709139 | ALPK3 | c.1206C>G (p.Ala402=) c.1812C>G (p.Ala604=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840485C>T | CA492277267 | ALPK3 | c.1206C>T (p.Ala402=) c.1812C>T (p.Ala604=) | COSMIC COSMIC |
| 15 | g.84840488_84840493dup | CA2192368356 | ALPK3 | c.1209_1214dup (p.Pro405_Gly406insGlyPro) c.1815_1820dup (p.Pro607_Gly608insGlyPro) | dbSNP gnomAD v4 |
| 15 | g.84840486C>A | CA393374801 | ALPK3 | c.1207C>A (p.Pro403Thr) c.1813C>A (p.Pro605Thr) | |
| 15 | g.84840486C= | CA2192368358 | ALPK3 | c.1207C= (p.Pro403=) c.1813C= (p.Pro605=) | |
| 15 | g.84840486C>G | CA7709141 | ALPK3 | c.1207C>G (p.Pro403Ala) c.1813C>G (p.Pro605Ala) | dbSNP ExAC |
| 15 | g.84840486C>T | CA7709140 | ALPK3 | c.1207C>T (p.Pro403Ser) c.1813C>T (p.Pro605Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840487C>A | CA393374804 | ALPK3 | c.1208C>A (p.Pro403His) c.1814C>A (p.Pro605His) | |
| 15 | g.84840487C>G | CA393374806 | ALPK3 | c.1208C>G (p.Pro403Arg) c.1814C>G (p.Pro605Arg) | |
| 15 | g.84840487C>T | CA393374810 | ALPK3 | c.1208C>T (p.Pro403Leu) c.1814C>T (p.Pro605Leu) |