Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84840593_84840598del | CA2575820492 | ALPK3 | c.1314_1319del (p.Ser438_Val439del) c.1920_1925del (p.Ser640_Val641del) | gnomAD v4 |
15 | g.84840596C>A | CA492277479 | ALPK3 | c.1317C>A (p.Val439=) c.1923C>A (p.Val641=) | dbSNP gnomAD v4 |
15 | g.84840596C= | CA2192368398 | ALPK3 | c.1317C= (p.Val439=) c.1923C= (p.Val641=) | |
15 | g.84840596C>G | CA492277481 | ALPK3 | c.1317C>G (p.Val439=) c.1923C>G (p.Val641=) | gnomAD v4 |
15 | g.84840596C>T | CA492277480 | ALPK3 | c.1317C>T (p.Val439=) c.1923C>T (p.Val641=) | ClinVar |
15 | g.84840596_84840598delinsCCG | CA2192368397 | ALPK3 | c.1317_1319delinsCCG (p.Val439=) c.1923_1925delinsCCG (p.Val641=) | |
15 | g.84840597C>A | CA492277483 | ALPK3 | c.1318C>A (p.Arg440=) c.1924C>A (p.Arg642=) | gnomAD v4 |
15 | g.84840597C= | CA2192368399 | ALPK3 | c.1318C= (p.Arg440=) c.1924C= (p.Arg642=) | |
15 | g.84840597C>G | CA393375377 | ALPK3 | c.1318C>G (p.Arg440Gly) c.1924C>G (p.Arg642Gly) | |
15 | g.84840597C>T | CA7709161 | ALPK3 | c.1318C>T (p.Arg440Trp) c.1924C>T (p.Arg642Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840597_84840598del | CA716470248 | ALPK3 | c.1318_1319del (p.Arg440GlyfsTer15) c.1924_1925del (p.Arg642GlyfsTer15) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840598G>A | CA393375379 | ALPK3 | c.1319G>A (p.Arg440Gln) c.1925G>A (p.Arg642Gln) | ClinVar gnomAD v4 COSMIC COSMIC |
15 | g.84840598G>C | CA393375380 | ALPK3 | c.1319G>C (p.Arg440Pro) c.1925G>C (p.Arg642Pro) | |
15 | g.84840598G>T | CA393375378 | ALPK3 | c.1319G>T (p.Arg440Leu) c.1925G>T (p.Arg642Leu) | gnomAD v4 |
15 | g.84840599G>A | CA492277489 | ALPK3 | c.1320G>A (p.Arg440=) c.1926G>A (p.Arg642=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840599G>C | CA492277491 | ALPK3 | c.1320G>C (p.Arg440=) c.1926G>C (p.Arg642=) | |
15 | g.84840599G= | CA2192368400 | ALPK3 | c.1320G= (p.Arg440=) c.1926G= (p.Arg642=) | |
15 | g.84840599G>T | CA273666172 | ALPK3 | c.1320G>T (p.Arg440=) c.1926G>T (p.Arg642=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840600G>A | CA393375382 | ALPK3 | c.1321G>A (p.Ala441Thr) c.1927G>A (p.Ala643Thr) | |
15 | g.84840600G>C | CA393375381 | ALPK3 | c.1321G>C (p.Ala441Pro) c.1927G>C (p.Ala643Pro) | |
15 | g.84840600G>T | CA393375383 | ALPK3 | c.1321G>T (p.Ala441Ser) c.1927G>T (p.Ala643Ser) | |
15 | g.84840601C>A | CA393375384 | ALPK3 | c.1322C>A (p.Ala441Glu) c.1928C>A (p.Ala643Glu) | gnomAD v4 |
15 | g.84840601C= | CA2192368401 | ALPK3 | c.1322C= (p.Ala441=) c.1928C= (p.Ala643=) | |
15 | g.84840601C>G | CA393375385 | ALPK3 | c.1322C>G (p.Ala441Gly) c.1928C>G (p.Ala643Gly) | |
15 | g.84840601C>T | CA393375386 | ALPK3 | c.1322C>T (p.Ala441Val) c.1928C>T (p.Ala643Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840602G>A | CA7709162 | ALPK3 | c.1323G>A (p.Ala441=) c.1929G>A (p.Ala643=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.84840602G>C | CA492277499 | ALPK3 | c.1323G>C (p.Ala441=) c.1929G>C (p.Ala643=) | |
15 | g.84840602G= | CA2192368402 | ALPK3 | c.1323G= (p.Ala441=) c.1929G= (p.Ala643=) | |
15 | g.84840602G>T | CA492277500 | ALPK3 | c.1323G>T (p.Ala441=) c.1929G>T (p.Ala643=) | gnomAD v4 |
15 | g.84840603C>A | CA393375387 | ALPK3 | c.1324C>A (p.Pro442Thr) c.1930C>A (p.Pro644Thr) | |
15 | g.84840603C>G | CA393375388 | ALPK3 | c.1324C>G (p.Pro442Ala) c.1930C>G (p.Pro644Ala) | |
15 | g.84840603C>T | CA393375389 | ALPK3 | c.1324C>T (p.Pro442Ser) c.1930C>T (p.Pro644Ser) | |
15 | g.84840604C>A | CA393375390 | ALPK3 | c.1325C>A (p.Pro442His) c.1931C>A (p.Pro644His) | |
15 | g.84840604C>G | CA393375391 | ALPK3 | c.1325C>G (p.Pro442Arg) c.1931C>G (p.Pro644Arg) | |
15 | g.84840604C>T | CA393375392 | ALPK3 | c.1325C>T (p.Pro442Leu) c.1931C>T (p.Pro644Leu) | |
15 | g.84840605T>A | CA492277510 | ALPK3 | c.1326T>A (p.Pro442=) c.1932T>A (p.Pro644=) | |
15 | g.84840605T>C | CA492277509 | ALPK3 | c.1326T>C (p.Pro442=) c.1932T>C (p.Pro644=) | gnomAD v4 |
15 | g.84840605T>G | CA492277507 | ALPK3 | c.1326T>G (p.Pro442=) c.1932T>G (p.Pro644=) | |
15 | g.84840606G>A | CA393375395 | ALPK3 | c.1327G>A (p.Gly443Arg) c.1933G>A (p.Gly645Arg) | |
15 | g.84840606G>C | CA393375394 | ALPK3 | c.1327G>C (p.Gly443Arg) c.1933G>C (p.Gly645Arg) | |
15 | g.84840606G>T | CA393375393 | ALPK3 | c.1327G>T (p.Gly443Trp) c.1933G>T (p.Gly645Trp) | |
15 | g.84840608_84840609del | CA2630109275 | ALPK3 | c.1329_1330del (p.Pro446GlnfsTer9) c.1935_1936del (p.Pro648GlnfsTer9) | gnomAD v4 |
15 | g.84840607G>A | CA393375396 | ALPK3 | c.1328G>A (p.Gly443Glu) c.1934G>A (p.Gly645Glu) | |
15 | g.84840607G>C | CA393375397 | ALPK3 | c.1328G>C (p.Gly443Ala) c.1934G>C (p.Gly645Ala) | |
15 | g.84840607G>T | CA393375398 | ALPK3 | c.1328G>T (p.Gly443Val) c.1934G>T (p.Gly645Val) | |
15 | g.84840608G>A | CA7709163 | ALPK3 | c.1329G>A (p.Gly443=) c.1935G>A (p.Gly645=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840608G>C | CA492277514 | ALPK3 | c.1329G>C (p.Gly443=) c.1935G>C (p.Gly645=) | dbSNP |
15 | g.84840608G= | CA2192368403 | ALPK3 | c.1329G= (p.Gly443=) c.1935G= (p.Gly645=) | |
15 | g.84840608G>T | CA492277515 | ALPK3 | c.1329G>T (p.Gly443=) c.1935G>T (p.Gly645=) | ClinVar dbSNP gnomAD v4 |
15 | g.84840609G>A | CA393375399 | ALPK3 | c.1330G>A (p.Glu444Lys) c.1936G>A (p.Glu646Lys) | |
15 | g.84840609G>C | CA393375400 | ALPK3 | c.1330G>C (p.Glu444Gln) c.1936G>C (p.Glu646Gln) | |
15 | g.84840609G>T | CA393375401 | ALPK3 | c.1330G>T (p.Glu444Ter) c.1936G>T (p.Glu646Ter) | gnomAD v4 |
15 | g.84840610A>C | CA393375402 | ALPK3 | c.1331A>C (p.Glu444Ala) c.1937A>C (p.Glu646Ala) | gnomAD v4 |
15 | g.84840610A>G | CA393375403 | ALPK3 | c.1331A>G (p.Glu444Gly) c.1937A>G (p.Glu646Gly) | |
15 | g.84840610A>T | CA393375404 | ALPK3 | c.1331A>T (p.Glu444Val) c.1937A>T (p.Glu646Val) | |
15 | g.84840611G>A | CA492277521 | ALPK3 | c.1332G>A (p.Glu444=) c.1938G>A (p.Glu646=) | |
15 | g.84840611G>C | CA393375405 | ALPK3 | c.1332G>C (p.Glu444Asp) c.1938G>C (p.Glu646Asp) | |
15 | g.84840611G>T | CA393375406 | ALPK3 | c.1332G>T (p.Glu444Asp) c.1938G>T (p.Glu646Asp) | |
15 | g.84840611_84840616del | CA2575820493 | ALPK3 | c.1332_1337del (p.Glu444_Pro446delinsAsp) c.1938_1943del (p.Glu646_Pro648delinsAsp) | |
15 | g.84840612A>C | CA393375408 | ALPK3 | c.1333A>C (p.Ser445Arg) c.1939A>C (p.Ser647Arg) | |
15 | g.84840612A>G | CA393375409 | ALPK3 | c.1333A>G (p.Ser445Gly) c.1939A>G (p.Ser647Gly) | gnomAD v4 |
15 | g.84840612A>T | CA393375407 | ALPK3 | c.1333A>T (p.Ser445Cys) c.1939A>T (p.Ser647Cys) | |
15 | g.84840613G>A | CA393375410 | ALPK3 | c.1334G>A (p.Ser445Asn) c.1940G>A (p.Ser647Asn) | ClinVar |
15 | g.84840613G>C | CA393375411 | ALPK3 | c.1334G>C (p.Ser445Thr) c.1940G>C (p.Ser647Thr) | |
15 | g.84840613G>T | CA393375412 | ALPK3 | c.1334G>T (p.Ser445Ile) c.1940G>T (p.Ser647Ile) | dbSNP |
15 | g.84840613_84840616del | CA2630109276 | ALPK3 | c.1334_1337del (p.Ser445ThrfsTer25) c.1940_1943del (p.Ser647ThrfsTer25) | gnomAD v4 |
15 | g.84840614T>A | CA393375413 | ALPK3 | c.1335T>A (p.Ser445Arg) c.1941T>A (p.Ser647Arg) | |
15 | g.84840614T>C | CA492277525 | ALPK3 | c.1335T>C (p.Ser445=) c.1941T>C (p.Ser647=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840614T>G | CA393375414 | ALPK3 | c.1335T>G (p.Ser445Arg) c.1941T>G (p.Ser647Arg) | |
15 | g.84840614T= | CA2192368404 | ALPK3 | c.1335T= (p.Ser445=) c.1941T= (p.Ser647=) | |
15 | g.84840615C>A | CA7709164 | ALPK3 | c.1336C>A (p.Pro446Thr) c.1942C>A (p.Pro648Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840615C= | CA2192368405 | ALPK3 | c.1336C= (p.Pro446=) c.1942C= (p.Pro648=) | |
15 | g.84840615C>G | CA393375415 | ALPK3 | c.1336C>G (p.Pro446Ala) c.1942C>G (p.Pro648Ala) | gnomAD v4 |
15 | g.84840615C>T | CA7709165 | ALPK3 | c.1336C>T (p.Pro446Ser) c.1942C>T (p.Pro648Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840616C>A | CA393375416 | ALPK3 | c.1337C>A (p.Pro446His) c.1943C>A (p.Pro648His) | |
15 | g.84840616C>G | CA393375417 | ALPK3 | c.1337C>G (p.Pro446Arg) c.1943C>G (p.Pro648Arg) | |
15 | g.84840616C>T | CA393375418 | ALPK3 | c.1337C>T (p.Pro446Leu) c.1943C>T (p.Pro648Leu) | |
15 | g.84840617C>A | CA492277533 | ALPK3 | c.1338C>A (p.Pro446=) c.1944C>A (p.Pro648=) | gnomAD v4 |
15 | g.84840617C>G | CA492277535 | ALPK3 | c.1338C>G (p.Pro446=) c.1944C>G (p.Pro648=) | |
15 | g.84840617C>T | CA492277536 | ALPK3 | c.1338C>T (p.Pro446=) c.1944C>T (p.Pro648=) | |
15 | g.84840618A>C | CA393375419 | ALPK3 | c.1339A>C (p.Lys447Gln) c.1945A>C (p.Lys649Gln) | |
15 | g.84840618A>G | CA393375420 | ALPK3 | c.1339A>G (p.Lys447Glu) c.1945A>G (p.Lys649Glu) | gnomAD v4 |
15 | g.84840618A>T | CA393375421 | ALPK3 | c.1339A>T (p.Lys447Ter) c.1945A>T (p.Lys649Ter) | |
15 | g.84840619A>C | CA393375422 | ALPK3 | c.1340A>C (p.Lys447Thr) c.1946A>C (p.Lys649Thr) | |
15 | g.84840619A>G | CA393375424 | ALPK3 | c.1340A>G (p.Lys447Arg) c.1946A>G (p.Lys649Arg) | gnomAD v4 |
15 | g.84840619A>T | CA393375423 | ALPK3 | c.1340A>T (p.Lys447Met) c.1946A>T (p.Lys649Met) | |
15 | g.84840620G>A | CA7709166 | ALPK3 | c.1341G>A (p.Lys447=) c.1947G>A (p.Lys649=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840620G>C | CA393375425 | ALPK3 | c.1341G>C (p.Lys447Asn) c.1947G>C (p.Lys649Asn) | |
15 | g.84840620G= | CA2192368406 | ALPK3 | c.1341G= (p.Lys447=) c.1947G= (p.Lys649=) | |
15 | g.84840620G>T | CA393375426 | ALPK3 | c.1341G>T (p.Lys447Asn) c.1947G>T (p.Lys649Asn) | gnomAD v4 |
15 | g.84840621G>A | CA7709167 | ALPK3 | c.1342G>A (p.Gly448Arg) c.1948G>A (p.Gly650Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840621G>C | CA393375427 | ALPK3 | c.1342G>C (p.Gly448Arg) c.1948G>C (p.Gly650Arg) | |
15 | g.84840621G= | CA2192368407 | ALPK3 | c.1342G= (p.Gly448=) c.1948G= (p.Gly650=) | |
15 | g.84840621G>T | CA393375428 | ALPK3 | c.1342G>T (p.Gly448Trp) c.1948G>T (p.Gly650Trp) | |
15 | g.84840622G>A | CA393375429 | ALPK3 | c.1343G>A (p.Gly448Glu) c.1949G>A (p.Gly650Glu) | |
15 | g.84840622G>C | CA393375430 | ALPK3 | c.1343G>C (p.Gly448Ala) c.1949G>C (p.Gly650Ala) | gnomAD v4 |
15 | g.84840622G>T | CA393375431 | ALPK3 | c.1343G>T (p.Gly448Val) c.1949G>T (p.Gly650Val) | |
15 | g.84840623G>A | CA492277547 | ALPK3 | c.1344G>A (p.Gly448=) c.1950G>A (p.Gly650=) | ClinVar gnomAD v4 |
15 | g.84840623G>C | CA492277548 | ALPK3 | c.1344G>C (p.Gly448=) c.1950G>C (p.Gly650=) | |
15 | g.84840623G= | CA2192368408 | ALPK3 | c.1344G= (p.Gly448=) c.1950G= (p.Gly650=) | |
15 | g.84840623G>T | CA492277549 | ALPK3 | c.1344G>T (p.Gly448=) c.1950G>T (p.Gly650=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.84840624A>C | CA393375432 | ALPK3 | c.1345A>C (p.Lys449Gln) c.1951A>C (p.Lys651Gln) | |
15 | g.84840624A>G | CA393375433 | ALPK3 | c.1345A>G (p.Lys449Glu) c.1951A>G (p.Lys651Glu) | |
15 | g.84840624A>T | CA393375434 | ALPK3 | c.1345A>T (p.Lys449Ter) c.1951A>T (p.Lys651Ter) | |
15 | g.84840625A= | CA2192368409 | ALPK3 | c.1346A= (p.Lys449=) c.1952A= (p.Lys651=) | |
15 | g.84840625A>C | CA393375436 | ALPK3 | c.1346A>C (p.Lys449Thr) c.1952A>C (p.Lys651Thr) | |
15 | g.84840625A>G | CA393375437 | ALPK3 | c.1346A>G (p.Lys449Arg) c.1952A>G (p.Lys651Arg) | dbSNP |
15 | g.84840625A>T | CA393375435 | ALPK3 | c.1346A>T (p.Lys449Met) c.1952A>T (p.Lys651Met) | |
15 | g.84840626G>A | CA492277553 | ALPK3 | c.1347G>A (p.Lys449=) c.1953G>A (p.Lys651=) | |
15 | g.84840626G>C | CA393375439 | ALPK3 | c.1347G>C (p.Lys449Asn) c.1953G>C (p.Lys651Asn) | |
15 | g.84840626G>T | CA393375438 | ALPK3 | c.1347G>T (p.Lys449Asn) c.1953G>T (p.Lys651Asn) | gnomAD v4 |
15 | g.84840627G>A | CA393375440 | ALPK3 | c.1348G>A (p.Ala450Thr) c.1954G>A (p.Ala652Thr) | ClinVar gnomAD v4 |
15 | g.84840627G>C | CA393375441 | ALPK3 | c.1348G>C (p.Ala450Pro) c.1954G>C (p.Ala652Pro) | |
15 | g.84840627G>T | CA393375442 | ALPK3 | c.1348G>T (p.Ala450Ser) c.1954G>T (p.Ala652Ser) | |
15 | g.84840628C>A | CA393375443 | ALPK3 | c.1349C>A (p.Ala450Glu) c.1955C>A (p.Ala652Glu) | dbSNP gnomAD v4 |
15 | g.84840628C= | CA2192368410 | ALPK3 | c.1349C= (p.Ala450=) c.1955C= (p.Ala652=) | |
15 | g.84840628C>G | CA393375444 | ALPK3 | c.1349C>G (p.Ala450Gly) c.1955C>G (p.Ala652Gly) | |
15 | g.84840628C>T | CA393375445 | ALPK3 | c.1349C>T (p.Ala450Val) c.1955C>T (p.Ala652Val) | gnomAD v4 |
15 | g.84840629A= | CA2192368411 | ALPK3 | c.1350A= (p.Ala450=) c.1956A= (p.Ala652=) | |
15 | g.84840629A>C | CA492277559 | ALPK3 | c.1350A>C (p.Ala450=) c.1956A>C (p.Ala652=) | |
15 | g.84840629A>G | CA492277560 | ALPK3 | c.1350A>G (p.Ala450=) c.1956A>G (p.Ala652=) | |
15 | g.84840629A>T | CA7709168 | ALPK3 | c.1350A>T (p.Ala450=) c.1956A>T (p.Ala652=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840630C>A | CA393375446 | ALPK3 | c.1351C>A (p.Pro451Thr) c.1957C>A (p.Pro653Thr) | gnomAD v4 |
15 | g.84840630C= | CA2192368412 | ALPK3 | c.1351C= (p.Pro451=) c.1957C= (p.Pro653=) | |
15 | g.84840630C>G | CA393375447 | ALPK3 | c.1351C>G (p.Pro451Ala) c.1957C>G (p.Pro653Ala) | |
15 | g.84840630C>T | CA7709169 | ALPK3 | c.1351C>T (p.Pro451Ser) c.1957C>T (p.Pro653Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840631C>A | CA393375448 | ALPK3 | c.1352C>A (p.Pro451His) c.1958C>A (p.Pro653His) | gnomAD v4 |
15 | g.84840631C= | CA2192368413 | ALPK3 | c.1352C= (p.Pro451=) c.1958C= (p.Pro653=) | |
15 | g.84840631C>G | CA393375449 | ALPK3 | c.1352C>G (p.Pro451Arg) c.1958C>G (p.Pro653Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840631C>T | CA393375450 | ALPK3 | c.1352C>T (p.Pro451Leu) c.1958C>T (p.Pro653Leu) | ClinVar dbSNP |
15 | g.84840632C>A | CA492277563 | ALPK3 | c.1353C>A (p.Pro451=) c.1959C>A (p.Pro653=) | ClinVar gnomAD v4 |
15 | g.84840632C= | CA2192368414 | ALPK3 | c.1353C= (p.Pro451=) c.1959C= (p.Pro653=) | |
15 | g.84840632C>G | CA492277564 | ALPK3 | c.1353C>G (p.Pro451=) c.1959C>G (p.Pro653=) | |
15 | g.84840632C>T | CA7709170 | ALPK3 | c.1353C>T (p.Pro451=) c.1959C>T (p.Pro653=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840633C>A | CA393375451 | ALPK3 | c.1354C>A (p.Leu452Ile) c.1960C>A (p.Leu654Ile) | gnomAD v4 |
15 | g.84840633C>G | CA393375453 | ALPK3 | c.1354C>G (p.Leu452Val) c.1960C>G (p.Leu654Val) | |
15 | g.84840633C>T | CA393375452 | ALPK3 | c.1354C>T (p.Leu452Phe) c.1960C>T (p.Leu654Phe) | |
15 | g.84840634T>A | CA393375454 | ALPK3 | c.1355T>A (p.Leu452His) c.1961T>A (p.Leu654His) | |
15 | g.84840634T>C | CA393375455 | ALPK3 | c.1355T>C (p.Leu452Pro) c.1961T>C (p.Leu654Pro) | |
15 | g.84840634T>G | CA393375456 | ALPK3 | c.1355T>G (p.Leu452Arg) c.1961T>G (p.Leu654Arg) | |
15 | g.84840635C>A | CA273666291 | ALPK3 | c.1356C>A (p.Leu452=) c.1962C>A (p.Leu654=) | dbSNP |
15 | g.84840635C= | CA2192368415 | ALPK3 | c.1356C= (p.Leu452=) c.1962C= (p.Leu654=) | |
15 | g.84840635C>G | CA492277572 | ALPK3 | c.1356C>G (p.Leu452=) c.1962C>G (p.Leu654=) | |
15 | g.84840635C>T | CA492277573 | ALPK3 | c.1356C>T (p.Leu452=) c.1962C>T (p.Leu654=) | |
15 | g.84840636A>C | CA492277574 | ALPK3 | c.1357A>C (p.Arg453=) c.1963A>C (p.Arg655=) | gnomAD v4 |
15 | g.84840636A>G | CA393375457 | ALPK3 | c.1357A>G (p.Arg453Gly) c.1963A>G (p.Arg655Gly) | |
15 | g.84840636A>T | CA393375458 | ALPK3 | c.1357A>T (p.Arg453Trp) c.1963A>T (p.Arg655Trp) | |
15 | g.84840636_84840637insTTTTTTAAT | CA972230716 | ALPK3 | c.1357_1358insTTTTTTAAT (p.Arg453IlefsTer3) c.1963_1964insTTTTTTAAT (p.Arg655IlefsTer3) | gnomAD v3 gnomAD v4 |
15 | g.84840637G>A | CA393375459 | ALPK3 | c.1358G>A (p.Arg453Lys) c.1964G>A (p.Arg655Lys) | COSMIC COSMIC |
15 | g.84840637G>C | CA393375460 | ALPK3 | c.1358G>C (p.Arg453Thr) c.1964G>C (p.Arg655Thr) | |
15 | g.84840637G>T | CA393375461 | ALPK3 | c.1358G>T (p.Arg453Met) c.1964G>T (p.Arg655Met) | |
15 | g.84840639del | CA2630109277 | ALPK3 | c.1360del (p.Ala454LeufsTer17) c.1966del (p.Ala656LeufsTer17) | gnomAD v4 |
15 | g.84840637_84840638insATAC | CA972230718 | ALPK3 | c.1358_1359insATAC (p.Ala454TyrfsTer3) c.1964_1965insATAC (p.Ala656TyrfsTer3) | gnomAD v3 gnomAD v4 |
15 | g.84840638G>A | CA492277581 | ALPK3 | c.1359G>A (p.Arg453=) c.1965G>A (p.Arg655=) | |
15 | g.84840638G>C | CA393375462 | ALPK3 | c.1359G>C (p.Arg453Ser) c.1965G>C (p.Arg655Ser) | |
15 | g.84840638G>T | CA393375463 | ALPK3 | c.1359G>T (p.Arg453Ser) c.1965G>T (p.Arg655Ser) | |
15 | g.84840639G>A | CA393375466 | ALPK3 | c.1360G>A (p.Ala454Thr) c.1966G>A (p.Ala656Thr) | gnomAD v4 |
15 | g.84840639G>C | CA393375465 | ALPK3 | c.1360G>C (p.Ala454Pro) c.1966G>C (p.Ala656Pro) | |
15 | g.84840639G>T | CA393375464 | ALPK3 | c.1360G>T (p.Ala454Ser) c.1966G>T (p.Ala656Ser) | ClinVar dbSNP |
15 | g.84840640C>A | CA393375467 | ALPK3 | c.1361C>A (p.Ala454Asp) c.1967C>A (p.Ala656Asp) | |
15 | g.84840640C= | CA2192368416 | ALPK3 | c.1361C= (p.Ala454=) c.1967C= (p.Ala656=) | |
15 | g.84840640C>G | CA393375468 | ALPK3 | c.1361C>G (p.Ala454Gly) c.1967C>G (p.Ala656Gly) | dbSNP |
15 | g.84840640C>T | CA393375469 | ALPK3 | c.1361C>T (p.Ala454Val) c.1967C>T (p.Ala656Val) | |
15 | g.84840641T>A | CA492277593 | ALPK3 | c.1362T>A (p.Ala454=) c.1968T>A (p.Ala656=) | |
15 | g.84840641T>C | CA492277591 | ALPK3 | c.1362T>C (p.Ala454=) c.1968T>C (p.Ala656=) | |
15 | g.84840641T>G | CA492277589 | ALPK3 | c.1362T>G (p.Ala454=) c.1968T>G (p.Ala656=) | |
15 | g.84840641_84840642del | CA972230722 | ALPK3 | c.1362_1363del (p.Arg455LysfsTer21) c.1968_1969del (p.Arg657LysfsTer21) | gnomAD v3 gnomAD v4 |
15 | g.84840642A>C | CA492277594 | ALPK3 | c.1363A>C (p.Arg455=) c.1969A>C (p.Arg657=) | |
15 | g.84840642A>G | CA393375470 | ALPK3 | c.1363A>G (p.Arg455Gly) c.1969A>G (p.Arg657Gly) | |
15 | g.84840642A>T | CA393375471 | ALPK3 | c.1363A>T (p.Arg455Ter) c.1969A>T (p.Arg657Ter) | |
15 | g.84840643G>A | CA393375472 | ALPK3 | c.1364G>A (p.Arg455Lys) c.1970G>A (p.Arg657Lys) | |
15 | g.84840643G>C | CA393375473 | ALPK3 | c.1364G>C (p.Arg455Thr) c.1970G>C (p.Arg657Thr) | |
15 | g.84840643G>T | CA393375474 | ALPK3 | c.1364G>T (p.Arg455Ile) c.1970G>T (p.Arg657Ile) | |
15 | g.84840644A>C | CA393375475 | ALPK3 | c.1365A>C (p.Arg455Ser) c.1971A>C (p.Arg657Ser) | |
15 | g.84840644A>G | CA492277599 | ALPK3 | c.1365A>G (p.Arg455=) c.1971A>G (p.Arg657=) | |
15 | g.84840644A>T | CA393375476 | ALPK3 | c.1365A>T (p.Arg455Ser) c.1971A>T (p.Arg657Ser) | |
15 | g.84840644_84840645insCC | CA972230733 | ALPK3 | c.1365_1366insCC (p.Ser456ProfsTer16) c.1971_1972insCC (p.Ser658ProfsTer16) | gnomAD v3 gnomAD v4 |
15 | g.84840645A>C | CA393375477 | ALPK3 | c.1366A>C (p.Ser456Arg) c.1972A>C (p.Ser658Arg) | |
15 | g.84840645A>G | CA393375478 | ALPK3 | c.1366A>G (p.Ser456Gly) c.1972A>G (p.Ser658Gly) | |
15 | g.84840645A>T | CA393375479 | ALPK3 | c.1366A>T (p.Ser456Cys) c.1972A>T (p.Ser658Cys) | |
15 | g.84840646G>A | CA393375481 | ALPK3 | c.1367G>A (p.Ser456Asn) c.1973G>A (p.Ser658Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840646G>C | CA393375482 | ALPK3 | c.1367G>C (p.Ser456Thr) c.1973G>C (p.Ser658Thr) | |
15 | g.84840646G= | CA2192368417 | ALPK3 | c.1367G= (p.Ser456=) c.1973G= (p.Ser658=) | |
15 | g.84840646G>T | CA393375480 | ALPK3 | c.1367G>T (p.Ser456Ile) c.1973G>T (p.Ser658Ile) | |
15 | g.84840647C>A | CA393375483 | ALPK3 | c.1368C>A (p.Ser456Arg) c.1974C>A (p.Ser658Arg) | |
15 | g.84840647C= | CA2192368418 | ALPK3 | c.1368C= (p.Ser456=) c.1974C= (p.Ser658=) | |
15 | g.84840647C>G | CA273666309 | ALPK3 | c.1368C>G (p.Ser456Arg) c.1974C>G (p.Ser658Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840647C>T | CA492277608 | ALPK3 | c.1368C>T (p.Ser456=) c.1974C>T (p.Ser658=) | gnomAD v4 |
15 | g.84840648G>A | CA393375484 | ALPK3 | c.1369G>A (p.Glu457Lys) c.1975G>A (p.Glu659Lys) | ClinVar dbSNP gnomAD v4 |
15 | g.84840648G>C | CA393375485 | ALPK3 | c.1369G>C (p.Glu457Gln) c.1975G>C (p.Glu659Gln) | |
15 | g.84840648G>T | CA393375486 | ALPK3 | c.1369G>T (p.Glu457Ter) c.1975G>T (p.Glu659Ter) | gnomAD v4 |
15 | g.84840649A>C | CA393375489 | ALPK3 | c.1370A>C (p.Glu457Ala) c.1976A>C (p.Glu659Ala) | |
15 | g.84840649A>G | CA393375487 | ALPK3 | c.1370A>G (p.Glu457Gly) c.1976A>G (p.Glu659Gly) | |
15 | g.84840649A>T | CA393375488 | ALPK3 | c.1370A>T (p.Glu457Val) c.1976A>T (p.Glu659Val) | |
15 | g.84840650G>A | CA492277614 | ALPK3 | c.1371G>A (p.Glu457=) c.1977G>A (p.Glu659=) | |
15 | g.84840650G>C | CA393375490 | ALPK3 | c.1371G>C (p.Glu457Asp) c.1977G>C (p.Glu659Asp) | |
15 | g.84840650G>T | CA393375491 | ALPK3 | c.1371G>T (p.Glu457Asp) c.1977G>T (p.Glu659Asp) | |
15 | g.84840654del | CA2630109278 | ALPK3 | c.1375del (p.Val459CysfsTer12) c.1981del (p.Val661CysfsTer12) | gnomAD v4 |
15 | g.84840651G>A | CA393375492 | ALPK3 | c.1372G>A (p.Gly458Arg) c.1978G>A (p.Gly660Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840651G>C | CA393375493 | ALPK3 | c.1372G>C (p.Gly458Arg) c.1978G>C (p.Gly660Arg) | |
15 | g.84840651G= | CA2192368419 | ALPK3 | c.1372G= (p.Gly458=) c.1978G= (p.Gly660=) | |
15 | g.84840651G>T | CA393375494 | ALPK3 | c.1372G>T (p.Gly458Trp) c.1978G>T (p.Gly660Trp) | |
15 | g.84840652G>A | CA7709171 | ALPK3 | c.1373G>A (p.Gly458Glu) c.1979G>A (p.Gly660Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840652G>C | CA393375496 | ALPK3 | c.1373G>C (p.Gly458Ala) c.1979G>C (p.Gly660Ala) | |
15 | g.84840652G= | CA2192368420 | ALPK3 | c.1373G= (p.Gly458=) c.1979G= (p.Gly660=) | |
15 | g.84840652G>T | CA393375495 | ALPK3 | c.1373G>T (p.Gly458Val) c.1979G>T (p.Gly660Val) | |
15 | g.84840653G>A | CA7709172 | ALPK3 | c.1374G>A (p.Gly458=) c.1980G>A (p.Gly660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840653G>C | CA492277619 | ALPK3 | c.1374G>C (p.Gly458=) c.1980G>C (p.Gly660=) | |
15 | g.84840653G= | CA2192368421 | ALPK3 | c.1374G= (p.Gly458=) c.1980G= (p.Gly660=) | |
15 | g.84840653G>T | CA492277621 | ALPK3 | c.1374G>T (p.Gly458=) c.1980G>T (p.Gly660=) | |
15 | g.84840654G>A | CA393375498 | ALPK3 | c.1375G>A (p.Val459Met) c.1981G>A (p.Val661Met) | |
15 | g.84840654G>C | CA393375497 | ALPK3 | c.1375G>C (p.Val459Leu) c.1981G>C (p.Val661Leu) | |
15 | g.84840654G>T | CA393375499 | ALPK3 | c.1375G>T (p.Val459Leu) c.1981G>T (p.Val661Leu) | ClinVar gnomAD v4 |
15 | g.84840655T>A | CA393375500 | ALPK3 | c.1376T>A (p.Val459Glu) c.1982T>A (p.Val661Glu) | |
15 | g.84840655T>C | CA393375502 | ALPK3 | c.1376T>C (p.Val459Ala) c.1982T>C (p.Val661Ala) | |
15 | g.84840655T>G | CA393375501 | ALPK3 | c.1376T>G (p.Val459Gly) c.1982T>G (p.Val661Gly) | |
15 | g.84840656G>A | CA492277625 | ALPK3 | c.1377G>A (p.Val459=) c.1983G>A (p.Val661=) | |
15 | g.84840656G>C | CA492277626 | ALPK3 | c.1377G>C (p.Val459=) c.1983G>C (p.Val661=) | |
15 | g.84840656G= | CA2192368422 | ALPK3 | c.1377G= (p.Val459=) c.1983G= (p.Val661=) | |
15 | g.84840656G>T | CA492277624 | ALPK3 | c.1377G>T (p.Val459=) c.1983G>T (p.Val661=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840657C>A | CA393375503 | ALPK3 | c.1378C>A (p.Pro460Thr) c.1984C>A (p.Pro662Thr) | |
15 | g.84840657C>G | CA393375505 | ALPK3 | c.1378C>G (p.Pro460Ala) c.1984C>G (p.Pro662Ala) | gnomAD v4 |
15 | g.84840657C>T | CA393375504 | ALPK3 | c.1378C>T (p.Pro460Ser) c.1984C>T (p.Pro662Ser) | gnomAD v4 |
15 | g.84840658C>A | CA393375506 | ALPK3 | c.1379C>A (p.Pro460His) c.1985C>A (p.Pro662His) | |
15 | g.84840658C>G | CA393375507 | ALPK3 | c.1379C>G (p.Pro460Arg) c.1985C>G (p.Pro662Arg) | |
15 | g.84840658C>T | CA393375508 | ALPK3 | c.1379C>T (p.Pro460Leu) c.1985C>T (p.Pro662Leu) | |
15 | g.84840659T>A | CA492277633 | ALPK3 | c.1380T>A (p.Pro460=) c.1986T>A (p.Pro662=) | |
15 | g.84840659T>C | CA492277635 | ALPK3 | c.1380T>C (p.Pro460=) c.1986T>C (p.Pro662=) | gnomAD v4 |
15 | g.84840659T>G | CA492277636 | ALPK3 | c.1380T>G (p.Pro460=) c.1986T>G (p.Pro662=) | |
15 | g.84840660G>A | CA393375509 | ALPK3 | c.1381G>A (p.Gly461Ser) c.1987G>A (p.Gly663Ser) | gnomAD v4 |
15 | g.84840660G>C | CA393375510 | ALPK3 | c.1381G>C (p.Gly461Arg) c.1987G>C (p.Gly663Arg) | |
15 | g.84840660G>T | CA393375511 | ALPK3 | c.1381G>T (p.Gly461Cys) c.1987G>T (p.Gly663Cys) | |
15 | g.84840661G>A | CA7709173 | ALPK3 | c.1382G>A (p.Gly461Asp) c.1988G>A (p.Gly663Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840661G>C | CA393375512 | ALPK3 | c.1382G>C (p.Gly461Ala) c.1988G>C (p.Gly663Ala) | |
15 | g.84840661G= | CA2192368423 | ALPK3 | c.1382G= (p.Gly461=) c.1988G= (p.Gly663=) | |
15 | g.84840661G>T | CA393375513 | ALPK3 | c.1382G>T (p.Gly461Val) c.1988G>T (p.Gly663Val) | |
15 | g.84840662C>A | CA492277641 | ALPK3 | c.1383C>A (p.Gly461=) c.1989C>A (p.Gly663=) | |
15 | g.84840662C= | CA2192368424 | ALPK3 | c.1383C= (p.Gly461=) c.1989C= (p.Gly663=) | |
15 | g.84840662C>G | CA492277643 | ALPK3 | c.1383C>G (p.Gly461=) c.1989C>G (p.Gly663=) | |
15 | g.84840662C>T | CA7709174 | ALPK3 | c.1383C>T (p.Gly461=) c.1989C>T (p.Gly663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840662_84840663delinsAC | CA2739269634 | ALPK3 | c.1383_1384delinsAC (p.Ala462Pro) c.1989_1990delinsAC (p.Ala664Pro) | ClinVar |
15 | g.84840663G>A | CA7709175 | ALPK3 | c.1384G>A (p.Ala462Thr) c.1990G>A (p.Ala664Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.84840663G>C | CA393375514 | ALPK3 | c.1384G>C (p.Ala462Pro) c.1990G>C (p.Ala664Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840663G= | CA2192368425 | ALPK3 | c.1384G= (p.Ala462=) c.1990G= (p.Ala664=) | |
15 | g.84840663G>T | CA393375515 | ALPK3 | c.1384G>T (p.Ala462Ser) c.1990G>T (p.Ala664Ser) | |
15 | g.84840664C>A | CA393375516 | ALPK3 | c.1385C>A (p.Ala462Asp) c.1991C>A (p.Ala664Asp) | COSMIC COSMIC |
15 | g.84840664C>G | CA393375518 | ALPK3 | c.1385C>G (p.Ala462Gly) c.1991C>G (p.Ala664Gly) | |
15 | g.84840664C>T | CA393375517 | ALPK3 | c.1385C>T (p.Ala462Val) c.1991C>T (p.Ala664Val) | gnomAD v4 |
15 | g.84840665T>A | CA492277649 | ALPK3 | c.1386T>A (p.Ala462=) c.1992T>A (p.Ala664=) | |
15 | g.84840665T>C | CA492277650 | ALPK3 | c.1386T>C (p.Ala462=) c.1992T>C (p.Ala664=) | |
15 | g.84840665T>G | CA492277651 | ALPK3 | c.1386T>G (p.Ala462=) c.1992T>G (p.Ala664=) | |
15 | g.84840666C>A | CA393375519 | ALPK3 | c.1387C>A (p.Pro463Thr) c.1993C>A (p.Pro665Thr) | |
15 | g.84840666C= | CA2192368426 | ALPK3 | c.1387C= (p.Pro463=) c.1993C= (p.Pro665=) | |
15 | g.84840666C>G | CA393375520 | ALPK3 | c.1387C>G (p.Pro463Ala) c.1993C>G (p.Pro665Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840666C>T | CA273666329 | ALPK3 | c.1387C>T (p.Pro463Ser) c.1993C>T (p.Pro665Ser) | dbSNP |
15 | g.84840667C>A | CA393375521 | ALPK3 | c.1388C>A (p.Pro463His) c.1994C>A (p.Pro665His) | |
15 | g.84840667C>G | CA393375522 | ALPK3 | c.1388C>G (p.Pro463Arg) c.1994C>G (p.Pro665Arg) | |
15 | g.84840667C>T | CA393375523 | ALPK3 | c.1388C>T (p.Pro463Leu) c.1994C>T (p.Pro665Leu) | gnomAD v4 |
15 | g.84840668T>A | CA492277659 | ALPK3 | c.1389T>A (p.Pro463=) c.1995T>A (p.Pro665=) | |
15 | g.84840668T>C | CA273666331 | ALPK3 | c.1389T>C (p.Pro463=) c.1995T>C (p.Pro665=) | dbSNP |
15 | g.84840668T>G | CA492277660 | ALPK3 | c.1389T>G (p.Pro463=) c.1995T>G (p.Pro665=) | |
15 | g.84840668T= | CA2192368427 | ALPK3 | c.1389T= (p.Pro463=) c.1995T= (p.Pro665=) | |
15 | g.84840669G>A | CA393375524 | ALPK3 | c.1390G>A (p.Gly464Ser) c.1996G>A (p.Gly666Ser) | |
15 | g.84840669G>C | CA393375525 | ALPK3 | c.1390G>C (p.Gly464Arg) c.1996G>C (p.Gly666Arg) | |
15 | g.84840669G>T | CA393375526 | ALPK3 | c.1390G>T (p.Gly464Cys) c.1996G>T (p.Gly666Cys) | |
15 | g.84840670del | CA2630109279 | ALPK3 | c.1391del (p.Gly464AlafsTer7) c.1997del (p.Gly666AlafsTer7) | gnomAD v4 |
15 | g.84840670G>A | CA393375529 | ALPK3 | c.1391G>A (p.Gly464Asp) c.1997G>A (p.Gly666Asp) | |
15 | g.84840670G>C | CA393375528 | ALPK3 | c.1391G>C (p.Gly464Ala) c.1997G>C (p.Gly666Ala) | |
15 | g.84840670G>T | CA393375527 | ALPK3 | c.1391G>T (p.Gly464Val) c.1997G>T (p.Gly666Val) | gnomAD v4 |
15 | g.84840671C>A | CA492277665 | ALPK3 | c.1392C>A (p.Gly464=) c.1998C>A (p.Gly666=) | ClinVar gnomAD v4 |
15 | g.84840671C= | CA2192368428 | ALPK3 | c.1392C= (p.Gly464=) c.1998C= (p.Gly666=) | |
15 | g.84840671C>G | CA7709176 | ALPK3 | c.1392C>G (p.Gly464=) c.1998C>G (p.Gly666=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840671C>T | CA492277666 | ALPK3 | c.1392C>T (p.Gly464=) c.1998C>T (p.Gly666=) | gnomAD v4 |
15 | g.84840672C>A | CA7709177 | ALPK3 | c.1393C>A (p.Gln465Lys) c.1999C>A (p.Gln667Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840672C= | CA2192368429 | ALPK3 | c.1393C= (p.Gln465=) c.1999C= (p.Gln667=) | |
15 | g.84840672C>G | CA393375530 | ALPK3 | c.1393C>G (p.Gln465Glu) c.1999C>G (p.Gln667Glu) | |
15 | g.84840672C>T | CA393375531 | ALPK3 | c.1393C>T (p.Gln465Ter) c.1999C>T (p.Gln667Ter) | |
15 | g.84840673A>C | CA393375532 | ALPK3 | c.1394A>C (p.Gln465Pro) c.2000A>C (p.Gln667Pro) | |
15 | g.84840673A>G | CA393375533 | ALPK3 | c.1394A>G (p.Gln465Arg) c.2000A>G (p.Gln667Arg) | |
15 | g.84840673A>T | CA393375534 | ALPK3 | c.1394A>T (p.Gln465Leu) c.2000A>T (p.Gln667Leu) | |
15 | g.84840674G>A | CA492277672 | ALPK3 | c.1395G>A (p.Gln465=) c.2001G>A (p.Gln667=) | ClinVar dbSNP |
15 | g.84840674G>C | CA393375536 | ALPK3 | c.1395G>C (p.Gln465His) c.2001G>C (p.Gln667His) | |
15 | g.84840674G= | CA2192368430 | ALPK3 | c.1395G= (p.Gln465=) c.2001G= (p.Gln667=) | |
15 | g.84840674G>T | CA393375535 | ALPK3 | c.1395G>T (p.Gln465His) c.2001G>T (p.Gln667His) | |
15 | g.84840675C>A | CA393375537 | ALPK3 | c.1396C>A (p.Pro466Thr) c.2002C>A (p.Pro668Thr) | |
15 | g.84840675C= | CA2192368431 | ALPK3 | c.1396C= (p.Pro466=) c.2002C= (p.Pro668=) | |
15 | g.84840675C>G | CA273666347 | ALPK3 | c.1396C>G (p.Pro466Ala) c.2002C>G (p.Pro668Ala) | dbSNP |
15 | g.84840675C>T | CA393375538 | ALPK3 | c.1396C>T (p.Pro466Ser) c.2002C>T (p.Pro668Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840676C>A | CA393375539 | ALPK3 | c.1397C>A (p.Pro466His) c.2003C>A (p.Pro668His) | |
15 | g.84840676C>G | CA393375540 | ALPK3 | c.1397C>G (p.Pro466Arg) c.2003C>G (p.Pro668Arg) | gnomAD v4 |
15 | g.84840676C>T | CA393375541 | ALPK3 | c.1397C>T (p.Pro466Leu) c.2003C>T (p.Pro668Leu) | |
15 | g.84840677C>A | CA492277685 | ALPK3 | c.1398C>A (p.Pro466=) c.2004C>A (p.Pro668=) | |
15 | g.84840677C= | CA2192368432 | ALPK3 | c.1398C= (p.Pro466=) c.2004C= (p.Pro668=) | |
15 | g.84840677C>G | CA492277682 | ALPK3 | c.1398C>G (p.Pro466=) c.2004C>G (p.Pro668=) | dbSNP |
15 | g.84840677C>T | CA492277683 | ALPK3 | c.1398C>T (p.Pro466=) c.2004C>T (p.Pro668=) | |
15 | g.84840678A>C | CA393375542 | ALPK3 | c.1399A>C (p.Thr467Pro) c.2005A>C (p.Thr669Pro) | |
15 | g.84840678A>G | CA393375544 | ALPK3 | c.1399A>G (p.Thr467Ala) c.2005A>G (p.Thr669Ala) | |
15 | g.84840678A>T | CA393375543 | ALPK3 | c.1399A>T (p.Thr467Ser) c.2005A>T (p.Thr669Ser) | |
15 | g.84840679C>A | CA393375545 | ALPK3 | c.1400C>A (p.Thr467Lys) c.2006C>A (p.Thr669Lys) | |
15 | g.84840679C>G | CA393375546 | ALPK3 | c.1400C>G (p.Thr467Arg) c.2006C>G (p.Thr669Arg) | |
15 | g.84840679C>T | CA393375547 | ALPK3 | c.1400C>T (p.Thr467Ile) c.2006C>T (p.Thr669Ile) | COSMIC COSMIC |
15 | g.84840680A>C | CA492277699 | ALPK3 | c.1401A>C (p.Thr467=) c.2007A>C (p.Thr669=) | |
15 | g.84840680A>G | CA492277700 | ALPK3 | c.1401A>G (p.Thr467=) c.2007A>G (p.Thr669=) | |
15 | g.84840680A>T | CA492277702 | ALPK3 | c.1401A>T (p.Thr467=) c.2007A>T (p.Thr669=) | |
15 | g.84840680_84840684delinsACACT | CA2192368433 | ALPK3 | c.1401_1405delinsACACT (p.Thr467=) c.2007_2011delinsACACT (p.Thr669=) | |
15 | g.84840681C>A | CA393375548 | ALPK3 | c.1402C>A (p.His468Asn) c.2008C>A (p.His670Asn) | gnomAD v4 |
15 | g.84840681C>G | CA393375549 | ALPK3 | c.1402C>G (p.His468Asp) c.2008C>G (p.His670Asp) | COSMIC COSMIC |
15 | g.84840681C>T | CA393375550 | ALPK3 | c.1402C>T (p.His468Tyr) c.2008C>T (p.His670Tyr) | |
15 | g.84840682_84840685del | CA7709178 | ALPK3 | c.1403_1406del (p.His468ProfsTer2) c.2009_2012del (p.His670ProfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840682A= | CA2192368434 | ALPK3 | c.1403A= (p.His468=) c.2009A= (p.His670=) | |
15 | g.84840682A>C | CA393375551 | ALPK3 | c.1403A>C (p.His468Pro) c.2009A>C (p.His670Pro) | |
15 | g.84840682A>G | CA393375552 | ALPK3 | c.1403A>G (p.His468Arg) c.2009A>G (p.His670Arg) | |
15 | g.84840682A>T | CA7709179 | ALPK3 | c.1403A>T (p.His468Leu) c.2009A>T (p.His670Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840683C>A | CA393375553 | ALPK3 | c.1404C>A (p.His468Gln) c.2010C>A (p.His670Gln) | gnomAD v4 |
15 | g.84840683C= | CA2192368435 | ALPK3 | c.1404C= (p.His468=) c.2010C= (p.His670=) | |
15 | g.84840683C>G | CA393375554 | ALPK3 | c.1404C>G (p.His468Gln) c.2010C>G (p.His670Gln) | |
15 | g.84840683C>T | CA492277708 | ALPK3 | c.1404C>T (p.His468=) c.2010C>T (p.His670=) | dbSNP gnomAD v4 |
15 | g.84840684T>A | CA393375557 | ALPK3 | c.1405T>A (p.Ser469Thr) c.2011T>A (p.Ser671Thr) | |
15 | g.84840684T>C | CA393375556 | ALPK3 | c.1405T>C (p.Ser469Pro) c.2011T>C (p.Ser671Pro) | |
15 | g.84840684T>G | CA393375555 | ALPK3 | c.1405T>G (p.Ser469Ala) c.2011T>G (p.Ser671Ala) | |
15 | g.84840685C>A | CA393375558 | ALPK3 | c.1406C>A (p.Ser469Tyr) c.2012C>A (p.Ser671Tyr) | |
15 | g.84840685C= | CA2192368436 | ALPK3 | c.1406C= (p.Ser469=) c.2012C= (p.Ser671=) | |
15 | g.84840685C>G | CA393375559 | ALPK3 | c.1406C>G (p.Ser469Cys) c.2012C>G (p.Ser671Cys) | gnomAD v4 |
15 | g.84840685C>T | CA7709180 | ALPK3 | c.1406C>T (p.Ser469Phe) c.2012C>T (p.Ser671Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84840686C>A | CA492277719 | ALPK3 | c.1407C>A (p.Ser469=) c.2013C>A (p.Ser671=) | dbSNP gnomAD v4 |
15 | g.84840686C= | CA2192368437 | ALPK3 | c.1407C= (p.Ser469=) c.2013C= (p.Ser671=) | |
15 | g.84840686C>G | CA492277720 | ALPK3 | c.1407C>G (p.Ser469=) c.2013C>G (p.Ser671=) | |
15 | g.84840686C>T | CA273666387 | ALPK3 | c.1407C>T (p.Ser469=) c.2013C>T (p.Ser671=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840687T>A | CA393375560 | ALPK3 | c.1408T>A (p.Leu470Met) c.2014T>A (p.Leu672Met) | |
15 | g.84840687T>C | CA7709181 | ALPK3 | c.1408T>C (p.Leu470=) c.2014T>C (p.Leu672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840687T>G | CA393375561 | ALPK3 | c.1408T>G (p.Leu470Val) c.2014T>G (p.Leu672Val) | |
15 | g.84840687T= | CA2192368438 | ALPK3 | c.1408T= (p.Leu470=) c.2014T= (p.Leu672=) | |
15 | g.84840688T>A | CA393375562 | ALPK3 | c.1409T>A (p.Leu470Ter) c.2015T>A (p.Leu672Ter) | |
15 | g.84840688T>C | CA393375563 | ALPK3 | c.1409T>C (p.Leu470Ser) c.2015T>C (p.Leu672Ser) | |
15 | g.84840688T>G | CA393375564 | ALPK3 | c.1409T>G (p.Leu470Trp) c.2015T>G (p.Leu672Trp) | |
15 | g.84840689G>A | CA492277728 | ALPK3 | c.1410G>A (p.Leu470=) c.2016G>A (p.Leu672=) | |
15 | g.84840689G>C | CA393375565 | ALPK3 | c.1410G>C (p.Leu470Phe) c.2016G>C (p.Leu672Phe) | |
15 | g.84840689G= | CA2192368439 | ALPK3 | c.1410G= (p.Leu470=) c.2016G= (p.Leu672=) | |
15 | g.84840689G>T | CA273666388 | ALPK3 | c.1410G>T (p.Leu470Phe) c.2016G>T (p.Leu672Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840689dup | CA2630109280 | ALPK3 | c.1410dup (p.Thr471AspfsTer6) c.2016dup (p.Thr673AspfsTer6) | gnomAD v4 |
15 | g.84840690A= | CA2192368440 | ALPK3 | c.1411A= (p.Thr471=) c.2017A= (p.Thr673=) | |
15 | g.84840690A>C | CA393375566 | ALPK3 | c.1411A>C (p.Thr471Pro) c.2017A>C (p.Thr673Pro) | gnomAD v4 |
15 | g.84840690A>G | CA393375567 | ALPK3 | c.1411A>G (p.Thr471Ala) c.2017A>G (p.Thr673Ala) | |
15 | g.84840690A>T | CA7709183 | ALPK3 | c.1411A>T (p.Thr471Ser) c.2017A>T (p.Thr673Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840690_84840691delinsAC | CA2192368441 | ALPK3 | c.1411_1412delinsAC (p.Thr471=) c.2017_2018delinsAC (p.Thr673=) | |
15 | g.84840691C>A | CA393375569 | ALPK3 | c.1412C>A (p.Thr471Asn) c.2018C>A (p.Thr673Asn) | ClinVar gnomAD v4 |
15 | g.84840691C= | CA2192368442 | ALPK3 | c.1412C= (p.Thr471=) c.2018C= (p.Thr673=) | |
15 | g.84840691C>G | CA393375568 | ALPK3 | c.1412C>G (p.Thr471Ser) c.2018C>G (p.Thr673Ser) | ClinVar |
15 | g.84840691C>T | CA7709184 | ALPK3 | c.1412C>T (p.Thr471Ile) c.2018C>T (p.Thr673Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840696dup | CA619855178 | ALPK3 | c.1417dup (p.Gln473ProfsTer4) c.2023dup (p.Gln675ProfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840696del | CA7709182 | ALPK3 | c.1417del (p.Gln473SerfsTer30) c.2023del (p.Gln675SerfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84840692C>A | CA492277743 | ALPK3 | c.1413C>A (p.Thr471=) c.2019C>A (p.Thr673=) | ClinVar gnomAD v4 |
15 | g.84840692C= | CA2192368443 | ALPK3 | c.1413C= (p.Thr471=) c.2019C= (p.Thr673=) | |
15 | g.84840692C>G | CA492277740 | ALPK3 | c.1413C>G (p.Thr471=) c.2019C>G (p.Thr673=) | ClinVar |
15 | g.84840692C>T | CA492277741 | ALPK3 | c.1413C>T (p.Thr471=) c.2019C>T (p.Thr673=) | ClinVar dbSNP gnomAD v4 |
15 | g.84840693C>A | CA393375570 | ALPK3 | c.1414C>A (p.Pro472Thr) c.2020C>A (p.Pro674Thr) | |
15 | g.84840693C>G | CA393375571 | ALPK3 | c.1414C>G (p.Pro472Ala) c.2020C>G (p.Pro674Ala) | |
15 | g.84840693C>T | CA393375572 | ALPK3 | c.1414C>T (p.Pro472Ser) c.2020C>T (p.Pro674Ser) | |
15 | g.84840694C>A | CA393375573 | ALPK3 | c.1415C>A (p.Pro472His) c.2021C>A (p.Pro674His) | |
15 | g.84840694C= | CA2192368444 | ALPK3 | c.1415C= (p.Pro472=) c.2021C= (p.Pro674=) | |
15 | g.84840694C>G | CA393375574 | ALPK3 | c.1415C>G (p.Pro472Arg) c.2021C>G (p.Pro674Arg) | gnomAD v4 |
15 | g.84840694C>T | CA393375575 | ALPK3 | c.1415C>T (p.Pro472Leu) c.2021C>T (p.Pro674Leu) | |
15 | g.84840695C>A | CA492277753 | ALPK3 | c.1416C>A (p.Pro472=) c.2022C>A (p.Pro674=) | |
15 | g.84840695C= | CA2192368445 | ALPK3 | c.1416C= (p.Pro472=) c.2022C= (p.Pro674=) | |
15 | g.84840695C>G | CA7709185 | ALPK3 | c.1416C>G (p.Pro472=) c.2022C>G (p.Pro674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84840695C>T | CA492277759 | ALPK3 | c.1416C>T (p.Pro472=) c.2022C>T (p.Pro674=) | |
15 | g.84840700_84840701insCACACACTCCTTGACCCTCCAGCC | CA619855179 | ALPK3 | c.1421_1422insCACACACTCCTTGACCCTCCAGCC (p.Pro474_Thr475insThrHisSerLeuThrLeuGlnPro) c.2027_2028insCACACACTCCTTGACCCTCCAGCC (p.Pro676_Thr677insThrHisSerLeuThrLeuGlnPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.84840696C>A | CA393375576 | ALPK3 | c.1417C>A (p.Gln473Lys) c.2023C>A (p.Gln675Lys) | |
15 | g.84840696C= | CA2192368446 | ALPK3 | c.1417C= (p.Gln473=) c.2023C= (p.Gln675=) | |
15 | g.84840696C>G | CA393375577 | ALPK3 | c.1417C>G (p.Gln473Glu) c.2023C>G (p.Gln675Glu) | |
15 | g.84840696C>T | CA7709186 | ALPK3 | c.1417C>T (p.Gln473Ter) c.2023C>T (p.Gln675Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |