Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
15 | g.84840276G>A | CA393374036 | ALPK3 | c.997G>A (p.Glu333Lys) c.1603G>A (p.Glu535Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840276G>C | CA393374038 | ALPK3 | c.997G>C (p.Glu333Gln) c.1603G>C (p.Glu535Gln) | gnomAD v4 |
15 | g.84840276G= | CA2192368271 | ALPK3 | c.997G= (p.Glu333=) c.1603G= (p.Glu535=) | |
15 | g.84840276G>T | CA393374039 | ALPK3 | c.997G>T (p.Glu333Ter) c.1603G>T (p.Glu535Ter) | |
15 | g.84840277A= | CA2192368272 | ALPK3 | c.998A= (p.Glu333=) c.1604A= (p.Glu535=) | |
15 | g.84840277A>C | CA393374042 | ALPK3 | c.998A>C (p.Glu333Ala) c.1604A>C (p.Glu535Ala) | |
15 | g.84840277A>G | CA393374044 | ALPK3 | c.998A>G (p.Glu333Gly) c.1604A>G (p.Glu535Gly) | |
15 | g.84840277A>T | CA393374045 | ALPK3 | c.998A>T (p.Glu333Val) c.1604A>T (p.Glu535Val) | dbSNP gnomAD v2 |
15 | g.84840278del | CA2630109268 | ALPK3 | c.999del (p.Lys334ArgfsTer?) c.1605del (p.Lys536ArgfsTer?) | gnomAD v4 |
15 | g.84840278G>A | CA492277434 | ALPK3 | c.999G>A (p.Glu333=) c.1605G>A (p.Glu535=) | |
15 | g.84840278G>C | CA393374046 | ALPK3 | c.999G>C (p.Glu333Asp) c.1605G>C (p.Glu535Asp) | |
15 | g.84840278G>T | CA393374048 | ALPK3 | c.999G>T (p.Glu333Asp) c.1605G>T (p.Glu535Asp) | |
15 | g.84840279A= | CA2192368273 | ALPK3 | c.1000A= (p.Lys334=) c.1606A= (p.Lys536=) | |
15 | g.84840279A>C | CA393374050 | ALPK3 | c.1000A>C (p.Lys334Gln) c.1606A>C (p.Lys536Gln) | |
15 | g.84840279A>G | CA393374051 | ALPK3 | c.1000A>G (p.Lys334Glu) c.1606A>G (p.Lys536Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840279A>T | CA393374053 | ALPK3 | c.1000A>T (p.Lys334Ter) c.1606A>T (p.Lys536Ter) | |
15 | g.84840280A>C | CA393374059 | ALPK3 | c.1001A>C (p.Lys334Thr) c.1607A>C (p.Lys536Thr) | ClinVar |
15 | g.84840280A>G | CA393374057 | ALPK3 | c.1001A>G (p.Lys334Arg) c.1607A>G (p.Lys536Arg) | |
15 | g.84840280A>T | CA393374055 | ALPK3 | c.1001A>T (p.Lys334Met) c.1607A>T (p.Lys536Met) | |
15 | g.84840282_84840285del | CA2695221131 | ALPK3 | c.1003_1006del (p.Ala335ProfsTer?) c.1609_1612del (p.Ala537ProfsTer?) | |
15 | g.84840281G>A | CA492277442 | ALPK3 | c.1002G>A (p.Lys334=) c.1608G>A (p.Lys536=) | |
15 | g.84840281G>C | CA393374063 | ALPK3 | c.1002G>C (p.Lys334Asn) c.1608G>C (p.Lys536Asn) | |
15 | g.84840281G>T | CA393374061 | ALPK3 | c.1002G>T (p.Lys334Asn) c.1608G>T (p.Lys536Asn) | |
15 | g.84840282G>A | CA393374065 | ALPK3 | c.1003G>A (p.Ala335Thr) c.1609G>A (p.Ala537Thr) | |
15 | g.84840282G>C | CA393374067 | ALPK3 | c.1003G>C (p.Ala335Pro) c.1609G>C (p.Ala537Pro) | |
15 | g.84840282G= | CA2192368274 | ALPK3 | c.1003G= (p.Ala335=) c.1609G= (p.Ala537=) | |
15 | g.84840282G>T | CA393374069 | ALPK3 | c.1003G>T (p.Ala335Ser) c.1609G>T (p.Ala537Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840283C>A | CA393374071 | ALPK3 | c.1004C>A (p.Ala335Glu) c.1610C>A (p.Ala537Glu) | |
15 | g.84840283C>G | CA393374073 | ALPK3 | c.1004C>G (p.Ala335Gly) c.1610C>G (p.Ala537Gly) | |
15 | g.84840283C>T | CA393374074 | ALPK3 | c.1004C>T (p.Ala335Val) c.1610C>T (p.Ala537Val) | gnomAD v4 |
15 | g.84840284A>C | CA492277457 | ALPK3 | c.1005A>C (p.Ala335=) c.1611A>C (p.Ala537=) | |
15 | g.84840284A>G | CA492277459 | ALPK3 | c.1005A>G (p.Ala335=) c.1611A>G (p.Ala537=) | |
15 | g.84840284A>T | CA492277460 | ALPK3 | c.1005A>T (p.Ala335=) c.1611A>T (p.Ala537=) | |
15 | g.84840285G>A | CA393374076 | ALPK3 | c.1006G>A (p.Ala336Thr) c.1612G>A (p.Ala538Thr) | |
15 | g.84840285G>C | CA393374077 | ALPK3 | c.1006G>C (p.Ala336Pro) c.1612G>C (p.Ala538Pro) | |
15 | g.84840285G>T | CA393374079 | ALPK3 | c.1006G>T (p.Ala336Ser) c.1612G>T (p.Ala538Ser) | |
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 |