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.84840282_84840285del | CA2695221131 | ALPK3 | c.1003_1006del (p.Ala335ProfsTer?) c.1609_1612del (p.Ala537ProfsTer?) | |
| 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) | |
| 15 | g.84840286C>A | CA393374082 | ALPK3 | c.1007C>A (p.Ala336Asp) c.1613C>A (p.Ala538Asp) | |
| 15 | g.84840286C= | CA2192368275 | ALPK3 | c.1007C= (p.Ala336=) c.1613C= (p.Ala538=) | |
| 15 | g.84840286C>G | CA393374083 | ALPK3 | c.1007C>G (p.Ala336Gly) c.1613C>G (p.Ala538Gly) | |
| 15 | g.84840286C>T | CA393374086 | ALPK3 | c.1007C>T (p.Ala336Val) c.1613C>T (p.Ala538Val) | dbSNP |
| 15 | g.84840287C>A | CA273665769 | ALPK3 | c.1008C>A (p.Ala336=) c.1614C>A (p.Ala538=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840287C= | CA2192368276 | ALPK3 | c.1008C= (p.Ala336=) c.1614C= (p.Ala538=) | |
| 15 | g.84840287C>G | CA492277467 | ALPK3 | c.1008C>G (p.Ala336=) c.1614C>G (p.Ala538=) | |
| 15 | g.84840287C>T | CA492277466 | ALPK3 | c.1008C>T (p.Ala336=) c.1614C>T (p.Ala538=) | dbSNP gnomAD v4 |
| 15 | g.84840288C>A | CA393374090 | ALPK3 | c.1009C>A (p.Gln337Lys) c.1615C>A (p.Gln539Lys) | |
| 15 | g.84840288C= | CA2192368277 | ALPK3 | c.1009C= (p.Gln337=) c.1615C= (p.Gln539=) | |
| 15 | g.84840288C>G | CA393374088 | ALPK3 | c.1009C>G (p.Gln337Glu) c.1615C>G (p.Gln539Glu) | |
| 15 | g.84840288C>T | CA393374089 | ALPK3 | c.1009C>T (p.Gln337Ter) c.1615C>T (p.Gln539Ter) | ClinVar dbSNP |
| 15 | g.84840289A>C | CA393374091 | ALPK3 | c.1010A>C (p.Gln337Pro) c.1616A>C (p.Gln539Pro) | |
| 15 | g.84840289A>G | CA393374092 | ALPK3 | c.1010A>G (p.Gln337Arg) c.1616A>G (p.Gln539Arg) | |
| 15 | g.84840289A>T | CA393374094 | ALPK3 | c.1010A>T (p.Gln337Leu) c.1616A>T (p.Gln539Leu) | |
| 15 | g.84840290A>C | CA393374096 | ALPK3 | c.1011A>C (p.Gln337His) c.1617A>C (p.Gln539His) | |
| 15 | g.84840290A>G | CA492277477 | ALPK3 | c.1011A>G (p.Gln337=) c.1617A>G (p.Gln539=) | |
| 15 | g.84840290A>T | CA393374097 | ALPK3 | c.1011A>T (p.Gln337His) c.1617A>T (p.Gln539His) | |
| 15 | g.84840291A>C | CA393374100 | ALPK3 | c.1012A>C (p.Ser338Arg) c.1618A>C (p.Ser540Arg) | |
| 15 | g.84840291A>G | CA393374101 | ALPK3 | c.1012A>G (p.Ser338Gly) c.1618A>G (p.Ser540Gly) | |
| 15 | g.84840291A>T | CA393374102 | ALPK3 | c.1012A>T (p.Ser338Cys) c.1618A>T (p.Ser540Cys) | |
| 15 | g.84840292G>A | CA393374104 | ALPK3 | c.1013G>A (p.Ser338Asn) c.1619G>A (p.Ser540Asn) | |
| 15 | g.84840292G>C | CA393374107 | ALPK3 | c.1013G>C (p.Ser338Thr) c.1619G>C (p.Ser540Thr) | |
| 15 | g.84840292G= | CA2192368278 | ALPK3 | c.1013G= (p.Ser338=) c.1619G= (p.Ser540=) | |
| 15 | g.84840292G>T | CA7709103 | ALPK3 | c.1013G>T (p.Ser338Ile) c.1619G>T (p.Ser540Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840293C>A | CA393374110 | ALPK3 | c.1014C>A (p.Ser338Arg) c.1620C>A (p.Ser540Arg) | |
| 15 | g.84840293C= | CA2192368279 | ALPK3 | c.1014C= (p.Ser338=) c.1620C= (p.Ser540=) | |
| 15 | g.84840293C>G | CA7709104 | ALPK3 | c.1014C>G (p.Ser338Arg) c.1620C>G (p.Ser540Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840293C>T | CA492277482 | ALPK3 | c.1014C>T (p.Ser338=) c.1620C>T (p.Ser540=) | ClinVar |
| 15 | g.84840294C>A | CA393374113 | ALPK3 | c.1015C>A (p.Arg339Ser) c.1621C>A (p.Arg541Ser) | ClinVar |
| 15 | g.84840294C= | CA2192368280 | ALPK3 | c.1015C= (p.Arg339=) c.1621C= (p.Arg541=) | |
| 15 | g.84840294C>G | CA7709106 | ALPK3 | c.1015C>G (p.Arg339Gly) c.1621C>G (p.Arg541Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840294C>T | CA7709105 | ALPK3 | c.1015C>T (p.Arg339Cys) c.1621C>T (p.Arg541Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840295G>A | CA393374116 | ALPK3 | c.1016G>A (p.Arg339His) c.1622G>A (p.Arg541His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.84840295G>C | CA393374118 | ALPK3 | c.1016G>C (p.Arg339Pro) c.1622G>C (p.Arg541Pro) | |
| 15 | g.84840295G= | CA2192368281 | ALPK3 | c.1016G= (p.Arg339=) c.1622G= (p.Arg541=) | |
| 15 | g.84840295G>T | CA393374120 | ALPK3 | c.1016G>T (p.Arg339Leu) c.1622G>T (p.Arg541Leu) | |
| 15 | g.84840296C>A | CA492277487 | ALPK3 | c.1017C>A (p.Arg339=) c.1623C>A (p.Arg541=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840296C= | CA2192368282 | ALPK3 | c.1017C= (p.Arg339=) c.1623C= (p.Arg541=) | |
| 15 | g.84840296C>G | CA492277488 | ALPK3 | c.1017C>G (p.Arg339=) c.1623C>G (p.Arg541=) | |
| 15 | g.84840296C>T | CA273665816 | ALPK3 | c.1017C>T (p.Arg339=) c.1623C>T (p.Arg541=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840297C>A | CA7709107 | ALPK3 | c.1018C>A (p.Arg340Ser) c.1624C>A (p.Arg542Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840297C= | CA2192368283 | ALPK3 | c.1018C= (p.Arg340=) c.1624C= (p.Arg542=) | |
| 15 | g.84840297C>G | CA393374123 | ALPK3 | c.1018C>G (p.Arg340Gly) c.1624C>G (p.Arg542Gly) | gnomAD v4 |
| 15 | g.84840297C>T | CA393374125 | ALPK3 | c.1018C>T (p.Arg340Cys) c.1624C>T (p.Arg542Cys) | gnomAD v4 COSMIC COSMIC |
| 15 | g.84840298G>A | CA393374131 | ALPK3 | c.1019G>A (p.Arg340His) c.1625G>A (p.Arg542His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840298G>C | CA393374129 | ALPK3 | c.1019G>C (p.Arg340Pro) c.1625G>C (p.Arg542Pro) | dbSNP gnomAD v4 |
| 15 | g.84840298G= | CA2192368284 | ALPK3 | c.1019G= (p.Arg340=) c.1625G= (p.Arg542=) | |
| 15 | g.84840298G>T | CA393374127 | ALPK3 | c.1019G>T (p.Arg340Leu) c.1625G>T (p.Arg542Leu) | COSMIC COSMIC |
| 15 | g.84840299T>A | CA492277492 | ALPK3 | c.1020T>A (p.Arg340=) c.1626T>A (p.Arg542=) | |
| 15 | g.84840299T>C | CA492277493 | ALPK3 | c.1020T>C (p.Arg340=) c.1626T>C (p.Arg542=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840299T>G | CA492277494 | ALPK3 | c.1020T>G (p.Arg340=) c.1626T>G (p.Arg542=) | |
| 15 | g.84840299T= | CA2192368285 | ALPK3 | c.1020T= (p.Arg340=) c.1626T= (p.Arg542=) | |
| 15 | g.84840300T>A | CA393374133 | ALPK3 | c.1021T>A (p.Ser341Thr) c.1627T>A (p.Ser543Thr) | |
| 15 | g.84840300T>C | CA393374134 | ALPK3 | c.1021T>C (p.Ser341Pro) c.1627T>C (p.Ser543Pro) | |
| 15 | g.84840300T>G | CA393374136 | ALPK3 | c.1021T>G (p.Ser341Ala) c.1627T>G (p.Ser543Ala) | |
| 15 | g.84840301C>A | CA393374138 | ALPK3 | c.1022C>A (p.Ser341Tyr) c.1628C>A (p.Ser543Tyr) | |
| 15 | g.84840301C>G | CA393374139 | ALPK3 | c.1022C>G (p.Ser341Cys) c.1628C>G (p.Ser543Cys) | |
| 15 | g.84840301C>T | CA393374140 | ALPK3 | c.1022C>T (p.Ser341Phe) c.1628C>T (p.Ser543Phe) | |
| 15 | g.84840302T>A | CA492277501 | ALPK3 | c.1023T>A (p.Ser341=) c.1629T>A (p.Ser543=) | |
| 15 | g.84840302T>C | CA492277502 | ALPK3 | c.1023T>C (p.Ser341=) c.1629T>C (p.Ser543=) | |
| 15 | g.84840302T>G | CA492277503 | ALPK3 | c.1023T>G (p.Ser341=) c.1629T>G (p.Ser543=) | ClinVar |
| 15 | g.84840303T>A | CA393374143 | ALPK3 | c.1024T>A (p.Ser342Thr) c.1630T>A (p.Ser544Thr) | |
| 15 | g.84840303T>C | CA393374145 | ALPK3 | c.1024T>C (p.Ser342Pro) c.1630T>C (p.Ser544Pro) | ClinVar dbSNP |
| 15 | g.84840303T>G | CA393374144 | ALPK3 | c.1024T>G (p.Ser342Ala) c.1630T>G (p.Ser544Ala) | |
| 15 | g.84840303T= | CA2192368286 | ALPK3 | c.1024T= (p.Ser342=) c.1630T= (p.Ser544=) | |
| 15 | g.84840304C>A | CA393374147 | ALPK3 | c.1025C>A (p.Ser342Ter) c.1631C>A (p.Ser544Ter) | |
| 15 | g.84840304C= | CA2192368287 | ALPK3 | c.1025C= (p.Ser342=) c.1631C= (p.Ser544=) | |
| 15 | g.84840304C>G | CA393374149 | ALPK3 | c.1025C>G (p.Ser342Ter) c.1631C>G (p.Ser544Ter) | |
| 15 | g.84840304C>T | CA273665841 | ALPK3 | c.1025C>T (p.Ser342Leu) c.1631C>T (p.Ser544Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840305A= | CA2192368288 | ALPK3 | c.1026A= (p.Ser342=) c.1632A= (p.Ser544=) | |
| 15 | g.84840305A>C | CA492277508 | ALPK3 | c.1026A>C (p.Ser342=) c.1632A>C (p.Ser544=) | |
| 15 | g.84840305A>G | CA7709108 | ALPK3 | c.1026A>G (p.Ser342=) c.1632A>G (p.Ser544=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840305A>T | CA492277511 | ALPK3 | c.1026A>T (p.Ser342=) c.1632A>T (p.Ser544=) | |
| 15 | g.84840306G>A | CA7709109 | ALPK3 | c.1027G>A (p.Glu343Lys) c.1633G>A (p.Glu545Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840306G>C | CA393374154 | ALPK3 | c.1027G>C (p.Glu343Gln) c.1633G>C (p.Glu545Gln) | |
| 15 | g.84840306G= | CA2192368289 | ALPK3 | c.1027G= (p.Glu343=) c.1633G= (p.Glu545=) | |
| 15 | g.84840306G>T | CA393374155 | ALPK3 | c.1027G>T (p.Glu343Ter) c.1633G>T (p.Glu545Ter) | |
| 15 | g.84840307A>C | CA393374157 | ALPK3 | c.1028A>C (p.Glu343Ala) c.1634A>C (p.Glu545Ala) | |
| 15 | g.84840307A>G | CA393374158 | ALPK3 | c.1028A>G (p.Glu343Gly) c.1634A>G (p.Glu545Gly) | |
| 15 | g.84840307A>T | CA393374160 | ALPK3 | c.1028A>T (p.Glu343Val) c.1634A>T (p.Glu545Val) | |
| 15 | g.84840308A>C | CA393374162 | ALPK3 | c.1029A>C (p.Glu343Asp) c.1635A>C (p.Glu545Asp) | |
| 15 | g.84840308A>G | CA492277513 | ALPK3 | c.1029A>G (p.Glu343=) c.1635A>G (p.Glu545=) | |
| 15 | g.84840308A>T | CA393374163 | ALPK3 | c.1029A>T (p.Glu343Asp) c.1635A>T (p.Glu545Asp) | |
| 15 | g.84840309A>C | CA393374166 | ALPK3 | c.1030A>C (p.Asn344His) c.1636A>C (p.Asn546His) | |
| 15 | g.84840309A>G | CA393374168 | ALPK3 | c.1030A>G (p.Asn344Asp) c.1636A>G (p.Asn546Asp) | |
| 15 | g.84840309A>T | CA393374167 | ALPK3 | c.1030A>T (p.Asn344Tyr) c.1636A>T (p.Asn546Tyr) | |
| 15 | g.84840310A= | CA2192368290 | ALPK3 | c.1031A= (p.Asn344=) c.1637A= (p.Asn546=) | |
| 15 | g.84840310A>C | CA393374170 | ALPK3 | c.1031A>C (p.Asn344Thr) c.1637A>C (p.Asn546Thr) | dbSNP |
| 15 | g.84840310A>G | CA393374172 | ALPK3 | c.1031A>G (p.Asn344Ser) c.1637A>G (p.Asn546Ser) | |
| 15 | g.84840310A>T | CA393374173 | ALPK3 | c.1031A>T (p.Asn344Ile) c.1637A>T (p.Asn546Ile) | |
| 15 | g.84840311C>A | CA393374175 | ALPK3 | c.1032C>A (p.Asn344Lys) c.1638C>A (p.Asn546Lys) | |
| 15 | g.84840311C>G | CA393374176 | ALPK3 | c.1032C>G (p.Asn344Lys) c.1638C>G (p.Asn546Lys) | |
| 15 | g.84840311C>T | CA492277519 | ALPK3 | c.1032C>T (p.Asn344=) c.1638C>T (p.Asn546=) | |
| 15 | g.84840312T>A | CA393374179 | ALPK3 | c.1033T>A (p.Cys345Ser) c.1639T>A (p.Cys547Ser) | |
| 15 | g.84840312T>C | CA393374180 | ALPK3 | c.1033T>C (p.Cys345Arg) c.1639T>C (p.Cys547Arg) | |
| 15 | g.84840312T>G | CA393374182 | ALPK3 | c.1033T>G (p.Cys345Gly) c.1639T>G (p.Cys547Gly) | |
| 15 | g.84840313G>A | CA393374183 | ALPK3 | c.1034G>A (p.Cys345Tyr) c.1640G>A (p.Cys547Tyr) | |
| 15 | g.84840313G>C | CA393374184 | ALPK3 | c.1034G>C (p.Cys345Ser) c.1640G>C (p.Cys547Ser) | |
| 15 | g.84840313G>T | CA393374185 | ALPK3 | c.1034G>T (p.Cys345Phe) c.1640G>T (p.Cys547Phe) | |
| 15 | g.84840314C>A | CA393374187 | ALPK3 | c.1035C>A (p.Cys345Ter) c.1641C>A (p.Cys547Ter) | |
| 15 | g.84840314C>G | CA393374188 | ALPK3 | c.1035C>G (p.Cys345Trp) c.1641C>G (p.Cys547Trp) | |
| 15 | g.84840314C>T | CA492277523 | ALPK3 | c.1035C>T (p.Cys345=) c.1641C>T (p.Cys547=) | |
| 15 | g.84840315_84840318dup | CA2582342626 | ALPK3 | c.1036_1039dup (p.Pro347HisfsTer8) c.1642_1645dup (p.Pro549HisfsTer8) | ClinVar |
| 15 | g.84840315A= | CA2192368291 | ALPK3 | c.1036A= (p.Ile346=) c.1642A= (p.Ile548=) | |
| 15 | g.84840315A>C | CA7709110 | ALPK3 | c.1036A>C (p.Ile346Leu) c.1642A>C (p.Ile548Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840315A>G | CA393374191 | ALPK3 | c.1036A>G (p.Ile346Val) c.1642A>G (p.Ile548Val) | |
| 15 | g.84840315A>T | CA393374189 | ALPK3 | c.1036A>T (p.Ile346Phe) c.1642A>T (p.Ile548Phe) | |
| 15 | g.84840316T>A | CA393374193 | ALPK3 | c.1037T>A (p.Ile346Asn) c.1643T>A (p.Ile548Asn) | |
| 15 | g.84840316T>C | CA393374195 | ALPK3 | c.1037T>C (p.Ile346Thr) c.1643T>C (p.Ile548Thr) | |
| 15 | g.84840316T>G | CA393374196 | ALPK3 | c.1037T>G (p.Ile346Ser) c.1643T>G (p.Ile548Ser) | |
| 15 | g.84840317C>A | CA492277527 | ALPK3 | c.1038C>A (p.Ile346=) c.1644C>A (p.Ile548=) | |
| 15 | g.84840317C>G | CA393374198 | ALPK3 | c.1038C>G (p.Ile346Met) c.1644C>G (p.Ile548Met) | |
| 15 | g.84840317C>T | CA492277528 | ALPK3 | c.1038C>T (p.Ile346=) c.1644C>T (p.Ile548=) | dbSNP |
| 15 | g.84840318C>A | CA393374200 | ALPK3 | c.1039C>A (p.Pro347Thr) c.1645C>A (p.Pro549Thr) | |
| 15 | g.84840318C= | CA2192368292 | ALPK3 | c.1039C= (p.Pro347=) c.1645C= (p.Pro549=) | |
| 15 | g.84840318C>G | CA393374201 | ALPK3 | c.1039C>G (p.Pro347Ala) c.1645C>G (p.Pro549Ala) | dbSNP gnomAD v4 |
| 15 | g.84840318C>T | CA393374203 | ALPK3 | c.1039C>T (p.Pro347Ser) c.1645C>T (p.Pro549Ser) | |
| 15 | g.84840319C>A | CA393374205 | ALPK3 | c.1040C>A (p.Pro347His) c.1646C>A (p.Pro549His) | dbSNP gnomAD v4 |
| 15 | g.84840319C= | CA2192368293 | ALPK3 | c.1040C= (p.Pro347=) c.1646C= (p.Pro549=) | |
| 15 | g.84840319C>G | CA393374207 | ALPK3 | c.1040C>G (p.Pro347Arg) c.1646C>G (p.Pro549Arg) | |
| 15 | g.84840319C>T | CA393374208 | ALPK3 | c.1040C>T (p.Pro347Leu) c.1646C>T (p.Pro549Leu) | |
| 15 | g.84840320C>A | CA492277531 | ALPK3 | c.1041C>A (p.Pro347=) c.1647C>A (p.Pro549=) | |
| 15 | g.84840320C= | CA2192368294 | ALPK3 | c.1041C= (p.Pro347=) c.1647C= (p.Pro549=) | |
| 15 | g.84840320C>G | CA492277532 | ALPK3 | c.1041C>G (p.Pro347=) c.1647C>G (p.Pro549=) | |
| 15 | g.84840320C>T | CA492277534 | ALPK3 | c.1041C>T (p.Pro347=) c.1647C>T (p.Pro549=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840321A= | CA2192368295 | ALPK3 | c.1042A= (p.Ser348=) c.1648A= (p.Ser550=) | |
| 15 | g.84840321A>C | CA393374213 | ALPK3 | c.1042A>C (p.Ser348Arg) c.1648A>C (p.Ser550Arg) | |
| 15 | g.84840321A>G | CA393374211 | ALPK3 | c.1042A>G (p.Ser348Gly) c.1648A>G (p.Ser550Gly) | dbSNP gnomAD v4 |
| 15 | g.84840321A>T | CA393374209 | ALPK3 | c.1042A>T (p.Ser348Cys) c.1648A>T (p.Ser550Cys) | |
| 15 | g.84840322G>A | CA393374215 | ALPK3 | c.1043G>A (p.Ser348Asn) c.1649G>A (p.Ser550Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.84840322G>C | CA393374219 | ALPK3 | c.1043G>C (p.Ser348Thr) c.1649G>C (p.Ser550Thr) | gnomAD v4 |
| 15 | g.84840322G>T | CA393374217 | ALPK3 | c.1043G>T (p.Ser348Ile) c.1649G>T (p.Ser550Ile) | |
| 15 | g.84840323C>A | CA393374221 | ALPK3 | c.1044C>A (p.Ser348Arg) c.1650C>A (p.Ser550Arg) | gnomAD v4 |
| 15 | g.84840323C= | CA2192368296 | ALPK3 | c.1044C= (p.Ser348=) c.1650C= (p.Ser550=) | |
| 15 | g.84840323C>G | CA393374224 | ALPK3 | c.1044C>G (p.Ser348Arg) c.1650C>G (p.Ser550Arg) | |
| 15 | g.84840323C>T | CA273665852 | ALPK3 | c.1044C>T (p.Ser348=) c.1650C>T (p.Ser550=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840324T>A | CA393374226 | ALPK3 | c.1045T>A (p.Ser349Thr) c.1651T>A (p.Ser551Thr) | |
| 15 | g.84840324T>C | CA393374227 | ALPK3 | c.1045T>C (p.Ser349Pro) c.1651T>C (p.Ser551Pro) | gnomAD v4 |
| 15 | g.84840324T>G | CA393374229 | ALPK3 | c.1045T>G (p.Ser349Ala) c.1651T>G (p.Ser551Ala) | gnomAD v4 |
| 15 | g.84840325C>A | CA393374230 | ALPK3 | c.1046C>A (p.Ser349Ter) c.1652C>A (p.Ser551Ter) | |
| 15 | g.84840325C>G | CA393374232 | ALPK3 | c.1046C>G (p.Ser349Ter) c.1652C>G (p.Ser551Ter) | |
| 15 | g.84840325C>T | CA393374233 | ALPK3 | c.1046C>T (p.Ser349Leu) c.1652C>T (p.Ser551Leu) | gnomAD v4 |
| 15 | g.84840326A>C | CA492277542 | ALPK3 | c.1047A>C (p.Ser349=) c.1653A>C (p.Ser551=) | |
| 15 | g.84840326A>G | CA492277543 | ALPK3 | c.1047A>G (p.Ser349=) c.1653A>G (p.Ser551=) | |
| 15 | g.84840326A>T | CA492277544 | ALPK3 | c.1047A>T (p.Ser349=) c.1653A>T (p.Ser551=) | |
| 15 | g.84840327G>A | CA393374239 | ALPK3 | c.1048G>A (p.Asp350Asn) c.1654G>A (p.Asp552Asn) | |
| 15 | g.84840327G>C | CA393374237 | ALPK3 | c.1048G>C (p.Asp350His) c.1654G>C (p.Asp552His) | |
| 15 | g.84840327G>T | CA393374235 | ALPK3 | c.1048G>T (p.Asp350Tyr) c.1654G>T (p.Asp552Tyr) | |
| 15 | g.84840328A>C | CA393374241 | ALPK3 | c.1049A>C (p.Asp350Ala) c.1655A>C (p.Asp552Ala) | |
| 15 | g.84840328A>G | CA393374243 | ALPK3 | c.1049A>G (p.Asp350Gly) c.1655A>G (p.Asp552Gly) | |
| 15 | g.84840328A>T | CA393374245 | ALPK3 | c.1049A>T (p.Asp350Val) c.1655A>T (p.Asp552Val) | |
| 15 | g.84840329C>A | CA393374246 | ALPK3 | c.1050C>A (p.Asp350Glu) c.1656C>A (p.Asp552Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.84840329C= | CA2192368297 | ALPK3 | c.1050C= (p.Asp350=) c.1656C= (p.Asp552=) | |
| 15 | g.84840329C>G | CA7709112 | ALPK3 | c.1050C>G (p.Asp350Glu) c.1656C>G (p.Asp552Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840329C>T | CA7709111 | ALPK3 | c.1050C>T (p.Asp350=) c.1656C>T (p.Asp552=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840330G>A | CA7709113 | ALPK3 | c.1051G>A (p.Glu351Lys) c.1657G>A (p.Glu553Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840330G>C | CA393374252 | ALPK3 | c.1051G>C (p.Glu351Gln) c.1657G>C (p.Glu553Gln) | ClinVar dbSNP |
| 15 | g.84840330G= | CA2192368298 | ALPK3 | c.1051G= (p.Glu351=) c.1657G= (p.Glu553=) | |
| 15 | g.84840330G>T | CA393374250 | ALPK3 | c.1051G>T (p.Glu351Ter) c.1657G>T (p.Glu553Ter) | |
| 15 | g.84840331A>C | CA393374253 | ALPK3 | c.1052A>C (p.Glu351Ala) c.1658A>C (p.Glu553Ala) | |
| 15 | g.84840331A>G | CA393374255 | ALPK3 | c.1052A>G (p.Glu351Gly) c.1658A>G (p.Glu553Gly) | |
| 15 | g.84840331A>T | CA393374256 | ALPK3 | c.1052A>T (p.Glu351Val) c.1658A>T (p.Glu553Val) | |
| 15 | g.84840332G>A | CA273665855 | ALPK3 | c.1053G>A (p.Glu351=) c.1659G>A (p.Glu553=) | dbSNP gnomAD v4 |
| 15 | g.84840332G>C | CA393374257 | ALPK3 | c.1053G>C (p.Glu351Asp) c.1659G>C (p.Glu553Asp) | |
| 15 | g.84840332G= | CA2192368299 | ALPK3 | c.1053G= (p.Glu351=) c.1659G= (p.Glu553=) | |
| 15 | g.84840332G>T | CA393374258 | ALPK3 | c.1053G>T (p.Glu351Asp) c.1659G>T (p.Glu553Asp) | dbSNP gnomAD v4 |
| 15 | g.84840333C>A | CA393374260 | ALPK3 | c.1054C>A (p.Pro352Thr) c.1660C>A (p.Pro554Thr) | |
| 15 | g.84840333C= | CA2192368300 | ALPK3 | c.1054C= (p.Pro352=) c.1660C= (p.Pro554=) | |
| 15 | g.84840333C>G | CA393374262 | ALPK3 | c.1054C>G (p.Pro352Ala) c.1660C>G (p.Pro554Ala) | |
| 15 | g.84840333C>T | CA393374264 | ALPK3 | c.1054C>T (p.Pro352Ser) c.1660C>T (p.Pro554Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840334dup | CA2580090121 | ALPK3 | c.1055dup (p.Asp353Ter) c.1661dup (p.Asp555Ter) | ClinVar |
| 15 | g.84840334C>A | CA393374265 | ALPK3 | c.1055C>A (p.Pro352His) c.1661C>A (p.Pro554His) | |
| 15 | g.84840334C>G | CA393374267 | ALPK3 | c.1055C>G (p.Pro352Arg) c.1661C>G (p.Pro554Arg) | |
| 15 | g.84840334C>T | CA393374269 | ALPK3 | c.1055C>T (p.Pro352Leu) c.1661C>T (p.Pro554Leu) | |
| 15 | g.84840335T>A | CA492277556 | ALPK3 | c.1056T>A (p.Pro352=) c.1662T>A (p.Pro554=) | ClinVar gnomAD v4 |
| 15 | g.84840335T>C | CA492277557 | ALPK3 | c.1056T>C (p.Pro352=) c.1662T>C (p.Pro554=) | |
| 15 | g.84840335T>G | CA492277558 | ALPK3 | c.1056T>G (p.Pro352=) c.1662T>G (p.Pro554=) | |
| 15 | g.84840336G>A | CA393374271 | ALPK3 | c.1057G>A (p.Asp353Asn) c.1663G>A (p.Asp555Asn) | |
| 15 | g.84840336G>C | CA7709114 | ALPK3 | c.1057G>C (p.Asp353His) c.1663G>C (p.Asp555His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840336G= | CA2192368301 | ALPK3 | c.1057G= (p.Asp353=) c.1663G= (p.Asp555=) | |
| 15 | g.84840336G>T | CA393374272 | ALPK3 | c.1057G>T (p.Asp353Tyr) c.1663G>T (p.Asp555Tyr) | |
| 15 | g.84840337A>C | CA393374275 | ALPK3 | c.1058A>C (p.Asp353Ala) c.1664A>C (p.Asp555Ala) | |
| 15 | g.84840337A>G | CA393374277 | ALPK3 | c.1058A>G (p.Asp353Gly) c.1664A>G (p.Asp555Gly) | |
| 15 | g.84840337A>T | CA393374278 | ALPK3 | c.1058A>T (p.Asp353Val) c.1664A>T (p.Asp555Val) | |
| 15 | g.84840338C>A | CA393374280 | ALPK3 | c.1059C>A (p.Asp353Glu) c.1665C>A (p.Asp555Glu) | |
| 15 | g.84840338C>G | CA393374281 | ALPK3 | c.1059C>G (p.Asp353Glu) c.1665C>G (p.Asp555Glu) | |
| 15 | g.84840338C>T | CA492277561 | ALPK3 | c.1059C>T (p.Asp353=) c.1665C>T (p.Asp555=) | |
| 15 | g.84840339T>A | CA393374284 | ALPK3 | c.1060T>A (p.Ser354Thr) c.1666T>A (p.Ser556Thr) | |
| 15 | g.84840339T>C | CA273665908 | ALPK3 | c.1060T>C (p.Ser354Pro) c.1666T>C (p.Ser556Pro) | dbSNP |
| 15 | g.84840339T>G | CA393374286 | ALPK3 | c.1060T>G (p.Ser354Ala) c.1666T>G (p.Ser556Ala) | |
| 15 | g.84840339T= | CA2192368302 | ALPK3 | c.1060T= (p.Ser354=) c.1666T= (p.Ser556=) | |
| 15 | g.84840340C>A | CA393374287 | ALPK3 | c.1061C>A (p.Ser354Tyr) c.1667C>A (p.Ser556Tyr) | |
| 15 | g.84840340C= | CA2192368303 | ALPK3 | c.1061C= (p.Ser354=) c.1667C= (p.Ser556=) | |
| 15 | g.84840340C>G | CA393374289 | ALPK3 | c.1061C>G (p.Ser354Cys) c.1667C>G (p.Ser556Cys) | |
| 15 | g.84840340C>T | CA393374290 | ALPK3 | c.1061C>T (p.Ser354Phe) c.1667C>T (p.Ser556Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840341C>A | CA492277565 | ALPK3 | c.1062C>A (p.Ser354=) c.1668C>A (p.Ser556=) | |
| 15 | g.84840341C>G | CA492277566 | ALPK3 | c.1062C>G (p.Ser354=) c.1668C>G (p.Ser556=) | |
| 15 | g.84840341C>T | CA492277568 | ALPK3 | c.1062C>T (p.Ser354=) c.1668C>T (p.Ser556=) | |
| 15 | g.84840342T>A | CA393374294 | ALPK3 | c.1063T>A (p.Cys355Ser) c.1669T>A (p.Cys557Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840342T>C | CA7709115 | ALPK3 | c.1063T>C (p.Cys355Arg) c.1669T>C (p.Cys557Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840342T>G | CA393374292 | ALPK3 | c.1063T>G (p.Cys355Gly) c.1669T>G (p.Cys557Gly) | |
| 15 | g.84840342T= | CA2192368304 | ALPK3 | c.1063T= (p.Cys355=) c.1669T= (p.Cys557=) | |
| 15 | g.84840343G>A | CA393374296 | ALPK3 | c.1064G>A (p.Cys355Tyr) c.1670G>A (p.Cys557Tyr) | |
| 15 | g.84840343G>C | CA393374297 | ALPK3 | c.1064G>C (p.Cys355Ser) c.1670G>C (p.Cys557Ser) | |
| 15 | g.84840343G>T | CA393374298 | ALPK3 | c.1064G>T (p.Cys355Phe) c.1670G>T (p.Cys557Phe) | |
| 15 | g.84840344T>A | CA393374301 | ALPK3 | c.1065T>A (p.Cys355Ter) c.1671T>A (p.Cys557Ter) | |
| 15 | g.84840344T>C | CA492277570 | ALPK3 | c.1065T>C (p.Cys355=) c.1671T>C (p.Cys557=) | |
| 15 | g.84840344T>G | CA393374302 | ALPK3 | c.1065T>G (p.Cys355Trp) c.1671T>G (p.Cys557Trp) | |
| 15 | g.84840345G>A | CA393374303 | ALPK3 | c.1066G>A (p.Gly356Arg) c.1672G>A (p.Gly558Arg) | |
| 15 | g.84840345G>C | CA393374305 | ALPK3 | c.1066G>C (p.Gly356Arg) c.1672G>C (p.Gly558Arg) | |
| 15 | g.84840345G>T | CA393374306 | ALPK3 | c.1066G>T (p.Gly356Trp) c.1672G>T (p.Gly558Trp) | |
| 15 | g.84840346G>A | CA273665919 | ALPK3 | c.1067G>A (p.Gly356Glu) c.1673G>A (p.Gly558Glu) | dbSNP gnomAD v4 |
| 15 | g.84840346G>C | CA393374309 | ALPK3 | c.1067G>C (p.Gly356Ala) c.1673G>C (p.Gly558Ala) | |
| 15 | g.84840346G= | CA2192368305 | ALPK3 | c.1067G= (p.Gly356=) c.1673G= (p.Gly558=) | |
| 15 | g.84840346G>T | CA393374311 | ALPK3 | c.1067G>T (p.Gly356Val) c.1673G>T (p.Gly558Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.84840347G>A | CA492277575 | ALPK3 | c.1068G>A (p.Gly356=) c.1674G>A (p.Gly558=) | |
| 15 | g.84840347G>C | CA492277576 | ALPK3 | c.1068G>C (p.Gly356=) c.1674G>C (p.Gly558=) | |
| 15 | g.84840347G>T | CA492277577 | ALPK3 | c.1068G>T (p.Gly356=) c.1674G>T (p.Gly558=) | gnomAD v4 |
| 15 | g.84840348A>C | CA393374314 | ALPK3 | c.1069A>C (p.Thr357Pro) c.1675A>C (p.Thr559Pro) | |
| 15 | g.84840348A>G | CA393374313 | ALPK3 | c.1069A>G (p.Thr357Ala) c.1675A>G (p.Thr559Ala) | |
| 15 | g.84840348A>T | CA393374312 | ALPK3 | c.1069A>T (p.Thr357Ser) c.1675A>T (p.Thr559Ser) | |
| 15 | g.84840349C>A | CA393374315 | ALPK3 | c.1070C>A (p.Thr357Asn) c.1676C>A (p.Thr559Asn) | |
| 15 | g.84840349C= | CA2192368306 | ALPK3 | c.1070C= (p.Thr357=) c.1676C= (p.Thr559=) | |
| 15 | g.84840349C>G | CA393374316 | ALPK3 | c.1070C>G (p.Thr357Ser) c.1676C>G (p.Thr559Ser) | dbSNP |
| 15 | g.84840349C>T | CA393374318 | ALPK3 | c.1070C>T (p.Thr357Ile) c.1676C>T (p.Thr559Ile) | |
| 15 | g.84840350T>A | CA492277582 | ALPK3 | c.1071T>A (p.Thr357=) c.1677T>A (p.Thr559=) | |
| 15 | g.84840350T>C | CA492277583 | ALPK3 | c.1071T>C (p.Thr357=) c.1677T>C (p.Thr559=) | |
| 15 | g.84840350T>G | CA7709116 | ALPK3 | c.1071T>G (p.Thr357=) c.1677T>G (p.Thr559=) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.84840350T= | CA2192368307 | ALPK3 | c.1071T= (p.Thr357=) c.1677T= (p.Thr559=) | |
| 15 | g.84840351C>A | CA393374320 | ALPK3 | c.1072C>A (p.Gln358Lys) c.1678C>A (p.Gln560Lys) | |
| 15 | g.84840351C= | CA2192368308 | ALPK3 | c.1072C= (p.Gln358=) c.1678C= (p.Gln560=) | |
| 15 | g.84840351C>G | CA393374321 | ALPK3 | c.1072C>G (p.Gln358Glu) c.1678C>G (p.Gln560Glu) | |
| 15 | g.84840351C>T | CA7709117 | ALPK3 | c.1072C>T (p.Gln358Ter) c.1678C>T (p.Gln560Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840352A>C | CA393374326 | ALPK3 | c.1073A>C (p.Gln358Pro) c.1679A>C (p.Gln560Pro) | |
| 15 | g.84840352A>G | CA393374323 | ALPK3 | c.1073A>G (p.Gln358Arg) c.1679A>G (p.Gln560Arg) | |
| 15 | g.84840352A>T | CA393374324 | ALPK3 | c.1073A>T (p.Gln358Leu) c.1679A>T (p.Gln560Leu) | |
| 15 | g.84840352_84840353del | CA2580090122 | ALPK3 | c.1073_1074del (p.Gln358ArgfsTer27) c.1679_1680del (p.Gln560ArgfsTer27) | ClinVar |
| 15 | g.84840353G>A | CA492277587 | ALPK3 | c.1074G>A (p.Gln358=) c.1680G>A (p.Gln560=) | |
| 15 | g.84840353G>C | CA393374327 | ALPK3 | c.1074G>C (p.Gln358His) c.1680G>C (p.Gln560His) | |
| 15 | g.84840353G>T | CA393374329 | ALPK3 | c.1074G>T (p.Gln358His) c.1680G>T (p.Gln560His) | |
| 15 | g.84840356del | CA912994713 | ALPK3 | c.1077del (p.Val361TrpfsTer?) c.1683del (p.Val563TrpfsTer?) | gnomAD v4 |
| 15 | g.84840354G>A | CA393374330 | ALPK3 | c.1075G>A (p.Gly359Arg) c.1681G>A (p.Gly561Arg) | |
| 15 | g.84840354G>C | CA393374331 | ALPK3 | c.1075G>C (p.Gly359Arg) c.1681G>C (p.Gly561Arg) | |
| 15 | g.84840354G>T | CA393374333 | ALPK3 | c.1075G>T (p.Gly359Trp) c.1681G>T (p.Gly561Trp) | |
| 15 | g.84840355G>A | CA393374334 | ALPK3 | c.1076G>A (p.Gly359Glu) c.1682G>A (p.Gly561Glu) | |
| 15 | g.84840355G>C | CA393374337 | ALPK3 | c.1076G>C (p.Gly359Ala) c.1682G>C (p.Gly561Ala) | |
| 15 | g.84840355G>T | CA393374335 | ALPK3 | c.1076G>T (p.Gly359Val) c.1682G>T (p.Gly561Val) | |
| 15 | g.84840356G>A | CA492277600 | ALPK3 | c.1077G>A (p.Gly359=) c.1683G>A (p.Gly561=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840356G>C | CA492277601 | ALPK3 | c.1077G>C (p.Gly359=) c.1683G>C (p.Gly561=) | |
| 15 | g.84840356G= | CA2192368309 | ALPK3 | c.1077G= (p.Gly359=) c.1683G= (p.Gly561=) | |
| 15 | g.84840356G>T | CA492277602 | ALPK3 | c.1077G>T (p.Gly359=) c.1683G>T (p.Gly561=) | ClinVar |
| 15 | g.84840357C>A | CA393374339 | ALPK3 | c.1078C>A (p.Pro360Thr) c.1684C>A (p.Pro562Thr) | |
| 15 | g.84840357C= | CA2192368310 | ALPK3 | c.1078C= (p.Pro360=) c.1684C= (p.Pro562=) | |
| 15 | g.84840357C>G | CA393374340 | ALPK3 | c.1078C>G (p.Pro360Ala) c.1684C>G (p.Pro562Ala) | gnomAD v4 |
| 15 | g.84840357C>T | CA393374342 | ALPK3 | c.1078C>T (p.Pro360Ser) c.1684C>T (p.Pro562Ser) | dbSNP gnomAD v4 |
| 15 | g.84840358C>A | CA393374343 | ALPK3 | c.1079C>A (p.Pro360His) c.1685C>A (p.Pro562His) | |
| 15 | g.84840358C= | CA2192368311 | ALPK3 | c.1079C= (p.Pro360=) c.1685C= (p.Pro562=) | |
| 15 | g.84840358C>G | CA393374344 | ALPK3 | c.1079C>G (p.Pro360Arg) c.1685C>G (p.Pro562Arg) | |
| 15 | g.84840358C>T | CA393374346 | ALPK3 | c.1079C>T (p.Pro360Leu) c.1685C>T (p.Pro562Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.84840359C>A | CA492277609 | ALPK3 | c.1080C>A (p.Pro360=) c.1686C>A (p.Pro562=) | |
| 15 | g.84840359C>G | CA492277607 | ALPK3 | c.1080C>G (p.Pro360=) c.1686C>G (p.Pro562=) | gnomAD v4 |
| 15 | g.84840359C>T | CA492277606 | ALPK3 | c.1080C>T (p.Pro360=) c.1686C>T (p.Pro562=) | dbSNP gnomAD v4 |
| 15 | g.84840360G>A | CA7709118 | ALPK3 | c.1081G>A (p.Val361Met) c.1687G>A (p.Val563Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840360G>C | CA393374348 | ALPK3 | c.1081G>C (p.Val361Leu) c.1687G>C (p.Val563Leu) | gnomAD v4 |
| 15 | g.84840360G= | CA2192368312 | ALPK3 | c.1081G= (p.Val361=) c.1687G= (p.Val563=) | |
| 15 | g.84840360G>T | CA393374350 | ALPK3 | c.1081G>T (p.Val361Leu) c.1687G>T (p.Val563Leu) | gnomAD v4 |
| 15 | g.84840361T>A | CA393374352 | ALPK3 | c.1082T>A (p.Val361Glu) c.1688T>A (p.Val563Glu) | ClinVar dbSNP |
| 15 | g.84840361T>C | CA393374354 | ALPK3 | c.1082T>C (p.Val361Ala) c.1688T>C (p.Val563Ala) | |
| 15 | g.84840361T>G | CA393374355 | ALPK3 | c.1082T>G (p.Val361Gly) c.1688T>G (p.Val563Gly) | |
| 15 | g.84840362G>A | CA492277616 | ALPK3 | c.1083G>A (p.Val361=) c.1689G>A (p.Val563=) | gnomAD v4 |
| 15 | g.84840362G>C | CA492277615 | ALPK3 | c.1083G>C (p.Val361=) c.1689G>C (p.Val563=) | gnomAD v4 |
| 15 | g.84840362G>T | CA492277613 | ALPK3 | c.1083G>T (p.Val361=) c.1689G>T (p.Val563=) | |
| 15 | g.84840363G>A | CA393374357 | ALPK3 | c.1084G>A (p.Gly362Ser) c.1690G>A (p.Gly564Ser) | COSMIC COSMIC |
| 15 | g.84840363G>C | CA393374360 | ALPK3 | c.1084G>C (p.Gly362Arg) c.1690G>C (p.Gly564Arg) | |
| 15 | g.84840363G>T | CA393374358 | ALPK3 | c.1084G>T (p.Gly362Cys) c.1690G>T (p.Gly564Cys) | |
| 15 | g.84840364G>A | CA393374362 | ALPK3 | c.1085G>A (p.Gly362Asp) c.1691G>A (p.Gly564Asp) | |
| 15 | g.84840364G>C | CA393374363 | ALPK3 | c.1085G>C (p.Gly362Ala) c.1691G>C (p.Gly564Ala) | |
| 15 | g.84840364G>T | CA393374365 | ALPK3 | c.1085G>T (p.Gly362Val) c.1691G>T (p.Gly564Val) | |
| 15 | g.84840365C>A | CA492277622 | ALPK3 | c.1086C>A (p.Gly362=) c.1692C>A (p.Gly564=) | gnomAD v4 |
| 15 | g.84840365C= | CA2192368313 | ALPK3 | c.1086C= (p.Gly362=) c.1692C= (p.Gly564=) | |
| 15 | g.84840365C>G | CA492277618 | ALPK3 | c.1086C>G (p.Gly362=) c.1692C>G (p.Gly564=) | |
| 15 | g.84840365C>T | CA492277620 | ALPK3 | c.1086C>T (p.Gly362=) c.1692C>T (p.Gly564=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840366G>A | CA7709119 | ALPK3 | c.1087G>A (p.Val363Met) c.1693G>A (p.Val565Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840366G>C | CA393374368 | ALPK3 | c.1087G>C (p.Val363Leu) c.1693G>C (p.Val565Leu) | |
| 15 | g.84840366G= | CA2192368314 | ALPK3 | c.1087G= (p.Val363=) c.1693G= (p.Val565=) | |
| 15 | g.84840366G>T | CA393374370 | ALPK3 | c.1087G>T (p.Val363Leu) c.1693G>T (p.Val565Leu) | |
| 15 | g.84840367T>A | CA393374372 | ALPK3 | c.1088T>A (p.Val363Glu) c.1694T>A (p.Val565Glu) | |
| 15 | g.84840367T>C | CA393374373 | ALPK3 | c.1088T>C (p.Val363Ala) c.1694T>C (p.Val565Ala) | |
| 15 | g.84840367T>G | CA393374375 | ALPK3 | c.1088T>G (p.Val363Gly) c.1694T>G (p.Val565Gly) | |
| 15 | g.84840368G>A | CA492277628 | ALPK3 | c.1089G>A (p.Val363=) c.1695G>A (p.Val565=) | |
| 15 | g.84840368G>C | CA492277630 | ALPK3 | c.1089G>C (p.Val363=) c.1695G>C (p.Val565=) | |
| 15 | g.84840368G>T | CA492277632 | ALPK3 | c.1089G>T (p.Val363=) c.1695G>T (p.Val565=) | |
| 15 | g.84840369G>A | CA393374377 | ALPK3 | c.1090G>A (p.Glu364Lys) c.1696G>A (p.Glu566Lys) | COSMIC COSMIC |
| 15 | g.84840369G>C | CA393374379 | ALPK3 | c.1090G>C (p.Glu364Gln) c.1696G>C (p.Glu566Gln) | |
| 15 | g.84840369G>T | CA393374380 | ALPK3 | c.1090G>T (p.Glu364Ter) c.1696G>T (p.Glu566Ter) | |
| 15 | g.84840370A>C | CA393374385 | ALPK3 | c.1091A>C (p.Glu364Ala) c.1697A>C (p.Glu566Ala) | |
| 15 | g.84840370A>G | CA393374382 | ALPK3 | c.1091A>G (p.Glu364Gly) c.1697A>G (p.Glu566Gly) | |
| 15 | g.84840370A>T | CA393374383 | ALPK3 | c.1091A>T (p.Glu364Val) c.1697A>T (p.Glu566Val) | |
| 15 | g.84840371G>A | CA7709120 | ALPK3 | c.1092G>A (p.Glu364=) c.1698G>A (p.Glu566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840371G>C | CA393374388 | ALPK3 | c.1092G>C (p.Glu364Asp) c.1698G>C (p.Glu566Asp) | |
| 15 | g.84840371G= | CA2192368315 | ALPK3 | c.1092G= (p.Glu364=) c.1698G= (p.Glu566=) | |
| 15 | g.84840371G>T | CA393374389 | ALPK3 | c.1092G>T (p.Glu364Asp) c.1698G>T (p.Glu566Asp) | |
| 15 | g.84840372C>A | CA393374391 | ALPK3 | c.1093C>A (p.Gln365Lys) c.1699C>A (p.Gln567Lys) | ClinVar gnomAD v4 |
| 15 | g.84840372C= | CA2192368316 | ALPK3 | c.1093C= (p.Gln365=) c.1699C= (p.Gln567=) | |
| 15 | g.84840372C>G | CA393374392 | ALPK3 | c.1093C>G (p.Gln365Glu) c.1699C>G (p.Gln567Glu) | |
| 15 | g.84840372C>T | CA7709121 | ALPK3 | c.1093C>T (p.Gln365Ter) c.1699C>T (p.Gln567Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840373A>C | CA393374394 | ALPK3 | c.1094A>C (p.Gln365Pro) c.1700A>C (p.Gln567Pro) | |
| 15 | g.84840373A>G | CA393374396 | ALPK3 | c.1094A>G (p.Gln365Arg) c.1700A>G (p.Gln567Arg) | |
| 15 | g.84840373A>T | CA393374397 | ALPK3 | c.1094A>T (p.Gln365Leu) c.1700A>T (p.Gln567Leu) | |
| 15 | g.84840374G>A | CA492277644 | ALPK3 | c.1095G>A (p.Gln365=) c.1701G>A (p.Gln567=) | |
| 15 | g.84840374G>C | CA393374399 | ALPK3 | c.1095G>C (p.Gln365His) c.1701G>C (p.Gln567His) | |
| 15 | g.84840374G>T | CA393374400 | ALPK3 | c.1095G>T (p.Gln365His) c.1701G>T (p.Gln567His) | |
| 15 | g.84840375G>A | CA393374406 | ALPK3 | c.1096G>A (p.Val366Ile) c.1702G>A (p.Val568Ile) | |
| 15 | g.84840375G>C | CA393374404 | ALPK3 | c.1096G>C (p.Val366Leu) c.1702G>C (p.Val568Leu) | |
| 15 | g.84840375G>T | CA393374402 | ALPK3 | c.1096G>T (p.Val366Phe) c.1702G>T (p.Val568Phe) | ClinVar gnomAD v4 |
| 15 | g.84840376T>A | CA393374407 | ALPK3 | c.1097T>A (p.Val366Asp) c.1703T>A (p.Val568Asp) | |
| 15 | g.84840376T>C | CA393374411 | ALPK3 | c.1097T>C (p.Val366Ala) c.1703T>C (p.Val568Ala) | |
| 15 | g.84840376T>G | CA393374409 | ALPK3 | c.1097T>G (p.Val366Gly) c.1703T>G (p.Val568Gly) | |
| 15 | g.84840377T>A | CA492277653 | ALPK3 | c.1098T>A (p.Val366=) c.1704T>A (p.Val568=) | |
| 15 | g.84840377T>C | CA492277655 | ALPK3 | c.1098T>C (p.Val366=) c.1704T>C (p.Val568=) | |
| 15 | g.84840377T>G | CA492277657 | ALPK3 | c.1098T>G (p.Val366=) c.1704T>G (p.Val568=) | |
| 15 | g.84840378C>A | CA393374413 | ALPK3 | c.1099C>A (p.Gln367Lys) c.1705C>A (p.Gln569Lys) | |
| 15 | g.84840378C>G | CA393374415 | ALPK3 | c.1099C>G (p.Gln367Glu) c.1705C>G (p.Gln569Glu) | |
| 15 | g.84840378C>T | CA393374414 | ALPK3 | c.1099C>T (p.Gln367Ter) c.1705C>T (p.Gln569Ter) | |
| 15 | g.84840382_84840392del | CA2573050767 | ALPK3 | c.1103_1113del (p.Thr368ArgfsTer14) c.1709_1719del (p.Thr570ArgfsTer14) | ClinVar |
| 15 | g.84840379A>C | CA393374417 | ALPK3 | c.1100A>C (p.Gln367Pro) c.1706A>C (p.Gln569Pro) | |
| 15 | g.84840379A>G | CA393374419 | ALPK3 | c.1100A>G (p.Gln367Arg) c.1706A>G (p.Gln569Arg) | gnomAD v4 |
| 15 | g.84840379A>T | CA393374420 | ALPK3 | c.1100A>T (p.Gln367Leu) c.1706A>T (p.Gln569Leu) | |
| 15 | g.84840380G>A | CA492277664 | ALPK3 | c.1101G>A (p.Gln367=) c.1707G>A (p.Gln569=) | |
| 15 | g.84840380G>C | CA393374422 | ALPK3 | c.1101G>C (p.Gln367His) c.1707G>C (p.Gln569His) | |
| 15 | g.84840380G>T | CA393374424 | ALPK3 | c.1101G>T (p.Gln367His) c.1707G>T (p.Gln569His) | |
| 15 | g.84840381A>C | CA393374426 | ALPK3 | c.1102A>C (p.Thr368Pro) c.1708A>C (p.Thr570Pro) | |
| 15 | g.84840381A>G | CA393374427 | ALPK3 | c.1102A>G (p.Thr368Ala) c.1708A>G (p.Thr570Ala) | |
| 15 | g.84840381A>T | CA393374428 | ALPK3 | c.1102A>T (p.Thr368Ser) c.1708A>T (p.Thr570Ser) | |
| 15 | g.84840382C>A | CA393374430 | ALPK3 | c.1103C>A (p.Thr368Asn) c.1709C>A (p.Thr570Asn) | |
| 15 | g.84840382C>G | CA393374432 | ALPK3 | c.1103C>G (p.Thr368Ser) c.1709C>G (p.Thr570Ser) | |
| 15 | g.84840382C>T | CA393374434 | ALPK3 | c.1103C>T (p.Thr368Ile) c.1709C>T (p.Thr570Ile) | |
| 15 | g.84840383C>A | CA7709122 | ALPK3 | c.1104C>A (p.Thr368=) c.1710C>A (p.Thr570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84840383C= | CA2192368317 | ALPK3 | c.1104C= (p.Thr368=) c.1710C= (p.Thr570=) | |
| 15 | g.84840383C>G | CA492277670 | ALPK3 | c.1104C>G (p.Thr368=) c.1710C>G (p.Thr570=) | |
| 15 | g.84840383C>T | CA492277669 | ALPK3 | c.1104C>T (p.Thr368=) c.1710C>T (p.Thr570=) | |
| 15 | g.84840384C>A | CA393374440 | ALPK3 | c.1105C>A (p.Gln369Lys) c.1711C>A (p.Gln571Lys) | |
| 15 | g.84840384C>G | CA393374437 | ALPK3 | c.1105C>G (p.Gln369Glu) c.1711C>G (p.Gln571Glu) | |
| 15 | g.84840384C>T | CA393374439 | ALPK3 | c.1105C>T (p.Gln369Ter) c.1711C>T (p.Gln571Ter) | |
| 15 | g.84840385A>C | CA393374441 | ALPK3 | c.1106A>C (p.Gln369Pro) c.1712A>C (p.Gln571Pro) | |
| 15 | g.84840385A>G | CA393374442 | ALPK3 | c.1106A>G (p.Gln369Arg) c.1712A>G (p.Gln571Arg) | |
| 15 | g.84840385A>T | CA393374444 | ALPK3 | c.1106A>T (p.Gln369Leu) c.1712A>T (p.Gln571Leu) |