OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67711587_67711589del | CA2695234362 | AR | c.*419_*421del (n.*419_*421del) c.2071_2073del (p.Asp691del) c.698_700del (n.698_700del) c.475_477del (p.Asp159del) c.1501_1503del (p.Asp501del) | |
| X | g.67711586C>A | CA413423344 | AR | c.*418C>A (n.*418C>A) c.2070C>A (p.His690Gln) c.697C>A (n.697C>A) c.474C>A (p.His158Gln) c.1500C>A (p.His500Gln) | |
| X | g.67711586C= | CA2435130495 | AR | c.*418C= (n.*418C=) c.2070C= (p.His690=) c.697C= (n.697C=) c.474C= (p.His158=) c.1500C= (p.His500=) | |
| X | g.67711586C>G | CA413423345 | AR | c.*418C>G (n.*418C>G) c.2070C>G (p.His690Gln) c.697C>G (n.697C>G) c.474C>G (p.His158Gln) c.1500C>G (p.His500Gln) | ClinVar dbSNP |
| X | g.67711586C>T | CA10436571 | AR | c.*418C>T (n.*418C>T) c.2070C>T (p.His690=) c.697C>T (n.697C>T) c.474C>T (p.His158=) c.1500C>T (p.His500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.67711587G>A | CA330771346 | AR | c.*419G>A (n.*419G>A) c.2071G>A (p.Asp691Asn) c.698G>A (n.698G>A) c.475G>A (p.Asp159Asn) c.1501G>A (p.Asp501Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711587G>C | CA413423347 | AR | c.*419G>C (n.*419G>C) c.2071G>C (p.Asp691His) c.698G>C (n.698G>C) c.475G>C (p.Asp159His) c.1501G>C (p.Asp501His) | dbSNP |
| X | g.67711587G= | CA2435130496 | AR | c.*419G= (n.*419G=) c.2071G= (p.Asp691=) c.698G= (n.698G=) c.475G= (p.Asp159=) c.1501G= (p.Asp501=) | |
| X | g.67711587G>T | CA413423346 | AR | c.*419G>T (n.*419G>T) c.2071G>T (p.Asp691Tyr) c.698G>T (n.698G>T) c.475G>T (p.Asp159Tyr) c.1501G>T (p.Asp501Tyr) | dbSNP |
| X | g.67711588A= | CA2435130497 | AR | c.*420A= (n.*420A=) c.2072A= (p.Asp691=) c.699A= (n.699A=) c.476A= (p.Asp159=) c.1502A= (p.Asp501=) | |
| X | g.67711588A>C | CA413423348 | AR | c.*420A>C (n.*420A>C) c.2072A>C (p.Asp691Ala) c.699A>C (n.699A>C) c.476A>C (p.Asp159Ala) c.1502A>C (p.Asp501Ala) | dbSNP |
| X | g.67711588A>G | CA413423349 | AR | c.*420A>G (n.*420A>G) c.2072A>G (p.Asp691Gly) c.699A>G (n.699A>G) c.476A>G (p.Asp159Gly) c.1502A>G (p.Asp501Gly) | ClinVar dbSNP |
| X | g.67711588A>T | CA413423350 | AR | c.*420A>T (n.*420A>T) c.2072A>T (p.Asp691Val) c.699A>T (n.699A>T) c.476A>T (p.Asp159Val) c.1502A>T (p.Asp501Val) | dbSNP COSMIC COSMIC |
| X | g.67711593_67711595del | CA2695234363 | AR | c.*425_*427del (n.*425_*427del) c.2077_2079del (p.Asn693del) c.704_706del (n.704_706del) c.481_483del (p.Asn161del) c.1507_1509del (p.Asn503del) | |
| X | g.67711589C>A | CA413423351 | AR | c.*421C>A (n.*421C>A) c.2073C>A (p.Asp691Glu) c.700C>A (n.700C>A) c.477C>A (p.Asp159Glu) c.1503C>A (p.Asp501Glu) | |
| X | g.67711589C= | CA2435130498 | AR | c.*421C= (n.*421C=) c.2073C= (p.Asp691=) c.700C= (n.700C=) c.477C= (p.Asp159=) c.1503C= (p.Asp501=) | |
| X | g.67711589C>G | CA413423352 | AR | c.*421C>G (n.*421C>G) c.2073C>G (p.Asp691Glu) c.700C>G (n.700C>G) c.477C>G (p.Asp159Glu) c.1503C>G (p.Asp501Glu) | dbSNP |
| X | g.67711589C>T | CA10436572 | AR | c.*421C>T (n.*421C>T) c.2073C>T (p.Asp691=) c.700C>T (n.700C>T) c.477C>T (p.Asp159=) c.1503C>T (p.Asp501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711590A>C | CA413423353 | AR | c.*422A>C (n.*422A>C) c.2074A>C (p.Asn692His) c.701A>C (n.701A>C) c.478A>C (p.Asn160His) c.1504A>C (p.Asn502His) | |
| X | g.67711590A>G | CA413423354 | AR | c.*422A>G (n.*422A>G) c.2074A>G (p.Asn692Asp) c.701A>G (n.701A>G) c.478A>G (p.Asn160Asp) c.1504A>G (p.Asn502Asp) | |
| X | g.67711590A>T | CA413423355 | AR | c.*422A>T (n.*422A>T) c.2074A>T (p.Asn692Tyr) c.701A>T (n.701A>T) c.478A>T (p.Asn160Tyr) c.1504A>T (p.Asn502Tyr) | dbSNP |
| X | g.67711591A>C | CA413423356 | AR | c.*423A>C (n.*423A>C) c.2075A>C (p.Asn692Thr) c.702A>C (n.702A>C) c.479A>C (p.Asn160Thr) c.1505A>C (p.Asn502Thr) | dbSNP |
| X | g.67711591A>G | CA413423357 | AR | c.*423A>G (n.*423A>G) c.2075A>G (p.Asn692Ser) c.702A>G (n.702A>G) c.479A>G (p.Asn160Ser) c.1505A>G (p.Asn502Ser) | dbSNP |
| X | g.67711591A>T | CA413423358 | AR | c.*423A>T (n.*423A>T) c.2075A>T (p.Asn692Ile) c.702A>T (n.702A>T) c.479A>T (p.Asn160Ile) c.1505A>T (p.Asn502Ile) | dbSNP |
| X | g.67711592C>A | CA413423359 | AR | c.*424C>A (n.*424C>A) c.2076C>A (p.Asn692Lys) c.703C>A (n.703C>A) c.480C>A (p.Asn160Lys) c.1506C>A (p.Asn502Lys) | ClinVar dbSNP |
| X | g.67711592C>G | CA413423360 | AR | c.*424C>G (n.*424C>G) c.2076C>G (p.Asn692Lys) c.703C>G (n.703C>G) c.480C>G (p.Asn160Lys) c.1506C>G (p.Asn502Lys) | dbSNP |
| X | g.67711592C>T | CA517048428 | AR | c.*424C>T (n.*424C>T) c.2076C>T (p.Asn692=) c.703C>T (n.703C>T) c.480C>T (p.Asn160=) c.1506C>T (p.Asn502=) | |
| X | g.67711593A>C | CA413423363 | AR | c.*425A>C (n.*425A>C) c.2077A>C (p.Asn693His) c.704A>C (n.704A>C) c.481A>C (p.Asn161His) c.1507A>C (p.Asn503His) | dbSNP |
| X | g.67711593A>G | CA413423362 | AR | c.*425A>G (n.*425A>G) c.2077A>G (p.Asn693Asp) c.704A>G (n.704A>G) c.481A>G (p.Asn161Asp) c.1507A>G (p.Asn503Asp) | dbSNP |
| X | g.67711593A>T | CA413423361 | AR | c.*425A>T (n.*425A>T) c.2077A>T (p.Asn693Tyr) c.704A>T (n.704A>T) c.481A>T (p.Asn161Tyr) c.1507A>T (p.Asn503Tyr) | |
| X | g.67711593_67711594insCCAA | CA2821614872 | AR | c.*425_*426insCCAA (n.*425_*426insCCAA) c.2077_2078insCCAA (p.Asn693ThrfsTer13) c.704_705insCCAA (n.704_705insCCAA) c.481_482insCCAA (p.Asn161ThrfsTer13) c.1507_1508insCCAA (p.Asn503ThrfsTer13) | |
| X | g.67711594A>C | CA413423364 | AR | c.*426A>C (n.*426A>C) c.2078A>C (p.Asn693Thr) c.705A>C (n.705A>C) c.482A>C (p.Asn161Thr) c.1508A>C (p.Asn503Thr) | |
| X | g.67711594A>G | CA413423365 | AR | c.*426A>G (n.*426A>G) c.2078A>G (p.Asn693Ser) c.705A>G (n.705A>G) c.482A>G (p.Asn161Ser) c.1508A>G (p.Asn503Ser) | gnomAD v4 |
| X | g.67711594A>T | CA413423366 | AR | c.*426A>T (n.*426A>T) c.2078A>T (p.Asn693Ile) c.705A>T (n.705A>T) c.482A>T (p.Asn161Ile) c.1508A>T (p.Asn503Ile) | ClinVar dbSNP |
| X | g.67711595C>A | CA413423367 | AR | c.*427C>A (n.*427C>A) c.2079C>A (p.Asn693Lys) c.706C>A (n.706C>A) c.483C>A (p.Asn161Lys) c.1509C>A (p.Asn503Lys) | dbSNP gnomAD v4 |
| X | g.67711595C>G | CA413423368 | AR | c.*427C>G (n.*427C>G) c.2079C>G (p.Asn693Lys) c.706C>G (n.706C>G) c.483C>G (p.Asn161Lys) c.1509C>G (p.Asn503Lys) | ClinVar dbSNP |
| X | g.67711595C>T | CA517048433 | AR | c.*427C>T (n.*427C>T) c.2079C>T (p.Asn693=) c.706C>T (n.706C>T) c.483C>T (p.Asn161=) c.1509C>T (p.Asn503=) | dbSNP gnomAD v4 |
| X | g.67711596del | CA2596116040 | AR | c.*428del (n.*428del) c.2080del (p.Gln694SerfsTer?) c.707del (n.707del) c.484del (p.Gln162SerfsTer?) c.1510del (p.Gln504SerfsTer?) | gnomAD v3 gnomAD v4 |
| X | g.67711595_67711596insACACCCAACA | CA2821614873 | AR | c.*427_*428insACACCCAACA (n.*427_*428insACACCCAACA) c.2079_2080insACACCCAACA (p.Gln694ThrfsTer14) c.706_707insACACCCAACA (n.706_707insACACCCAACA) c.483_484insACACCCAACA (p.Gln162ThrfsTer14) c.1509_1510insACACCCAACA (p.Gln504ThrfsTer14) | |
| X | g.67711596C>A | CA413423369 | AR | c.*428C>A (n.*428C>A) c.2080C>A (p.Gln694Lys) c.707C>A (n.707C>A) c.484C>A (p.Gln162Lys) c.1510C>A (p.Gln504Lys) | dbSNP |
| X | g.67711596C>G | CA413423370 | AR | c.*428C>G (n.*428C>G) c.2080C>G (p.Gln694Glu) c.707C>G (n.707C>G) c.484C>G (p.Gln162Glu) c.1510C>G (p.Gln504Glu) | dbSNP |
| X | g.67711596C>T | CA413423371 | AR | c.*428C>T (n.*428C>T) c.2080C>T (p.Gln694Ter) c.707C>T (n.707C>T) c.484C>T (p.Gln162Ter) c.1510C>T (p.Gln504Ter) | |
| X | g.67711597A>C | CA413423372 | AR | c.*429A>C (n.*429A>C) c.2081A>C (p.Gln694Pro) c.708A>C (n.708A>C) c.485A>C (p.Gln162Pro) c.1511A>C (p.Gln504Pro) | |
| X | g.67711597A>G | CA413423373 | AR | c.*429A>G (n.*429A>G) c.2081A>G (p.Gln694Arg) c.708A>G (n.708A>G) c.485A>G (p.Gln162Arg) c.1511A>G (p.Gln504Arg) | |
| X | g.67711597A>T | CA413423374 | AR | c.*429A>T (n.*429A>T) c.2081A>T (p.Gln694Leu) c.708A>T (n.708A>T) c.485A>T (p.Gln162Leu) c.1511A>T (p.Gln504Leu) | dbSNP |
| X | g.67711598G>A | CA10436573 | AR | c.*430G>A (n.*430G>A) c.2082G>A (p.Gln694=) c.709G>A (n.709G>A) c.486G>A (p.Gln162=) c.1512G>A (p.Gln504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711598G>C | CA330771347 | AR | c.*430G>C (n.*430G>C) c.2082G>C (p.Gln694His) c.709G>C (n.709G>C) c.486G>C (p.Gln162His) c.1512G>C (p.Gln504His) | dbSNP |
| X | g.67711598G= | CA2435130499 | AR | c.*430G= (n.*430G=) c.2082G= (p.Gln694=) c.709G= (n.709G=) c.486G= (p.Gln162=) c.1512G= (p.Gln504=) | |
| X | g.67711598G>T | CA413423375 | AR | c.*430G>T (n.*430G>T) c.2082G>T (p.Gln694His) c.709G>T (n.709G>T) c.486G>T (p.Gln162His) c.1512G>T (p.Gln504His) | |
| X | g.67711599C>A | CA413423377 | AR | c.*431C>A (n.*431C>A) c.2083C>A (p.Pro695Thr) c.710C>A (n.710C>A) c.487C>A (p.Pro163Thr) c.1513C>A (p.Pro505Thr) | dbSNP |
| X | g.67711599C= | CA2435130500 | AR | c.*431C= (n.*431C=) c.2083C= (p.Pro695=) c.710C= (n.710C=) c.487C= (p.Pro163=) c.1513C= (p.Pro505=) | |
| X | g.67711599C>G | CA413423376 | AR | c.*431C>G (n.*431C>G) c.2083C>G (p.Pro695Ala) c.710C>G (n.710C>G) c.487C>G (p.Pro163Ala) c.1513C>G (p.Pro505Ala) | dbSNP |
| X | g.67711599C>T | CA10436574 | AR | c.*431C>T (n.*431C>T) c.2083C>T (p.Pro695Ser) c.710C>T (n.710C>T) c.487C>T (p.Pro163Ser) c.1513C>T (p.Pro505Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711600C>A | CA413423378 | AR | c.*432C>A (n.*432C>A) c.2084C>A (p.Pro695His) c.711C>A (n.711C>A) c.488C>A (p.Pro163His) c.1514C>A (p.Pro505His) | dbSNP |
| X | g.67711600C>G | CA413423379 | AR | c.*432C>G (n.*432C>G) c.2084C>G (p.Pro695Arg) c.711C>G (n.711C>G) c.488C>G (p.Pro163Arg) c.1514C>G (p.Pro505Arg) | dbSNP |
| X | g.67711600C>T | CA413423380 | AR | c.*432C>T (n.*432C>T) c.2084C>T (p.Pro695Leu) c.711C>T (n.711C>T) c.488C>T (p.Pro163Leu) c.1514C>T (p.Pro505Leu) | dbSNP |
| X | g.67711601C>A | CA517048455 | AR | c.*433C>A (n.*433C>A) c.2085C>A (p.Pro695=) c.712C>A (n.712C>A) c.489C>A (p.Pro163=) c.1515C>A (p.Pro505=) | dbSNP |
| X | g.67711601C= | CA2435130501 | AR | c.*433C= (n.*433C=) c.2085C= (p.Pro695=) c.712C= (n.712C=) c.489C= (p.Pro163=) c.1515C= (p.Pro505=) | |
| X | g.67711601C>G | CA517048452 | AR | c.*433C>G (n.*433C>G) c.2085C>G (p.Pro695=) c.712C>G (n.712C>G) c.489C>G (p.Pro163=) c.1515C>G (p.Pro505=) | dbSNP |
| X | g.67711601C>T | CA10436575 | AR | c.*433C>T (n.*433C>T) c.2085C>T (p.Pro695=) c.712C>T (n.712C>T) c.489C>T (p.Pro163=) c.1515C>T (p.Pro505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711602G>A | CA413423381 | AR | c.*434G>A (n.*434G>A) c.2086G>A (p.Asp696Asn) c.713G>A (n.713G>A) c.490G>A (p.Asp164Asn) c.1516G>A (p.Asp506Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67711602G>C | CA413423382 | AR | c.*434G>C (n.*434G>C) c.2086G>C (p.Asp696His) c.713G>C (n.713G>C) c.490G>C (p.Asp164His) c.1516G>C (p.Asp506His) | dbSNP |
| X | g.67711602G= | CA2435130502 | AR | c.*434G= (n.*434G=) c.2086G= (p.Asp696=) c.713G= (n.713G=) c.490G= (p.Asp164=) c.1516G= (p.Asp506=) | |
| X | g.67711602G>T | CA413423383 | AR | c.*434G>T (n.*434G>T) c.2086G>T (p.Asp696Tyr) c.713G>T (n.713G>T) c.490G>T (p.Asp164Tyr) c.1516G>T (p.Asp506Tyr) | dbSNP |
| X | g.67711603A>C | CA413423386 | AR | c.*435A>C (n.*435A>C) c.2087A>C (p.Asp696Ala) c.714A>C (n.714A>C) c.491A>C (p.Asp164Ala) c.1517A>C (p.Asp506Ala) | dbSNP |
| X | g.67711603A>G | CA413423384 | AR | c.*435A>G (n.*435A>G) c.2087A>G (p.Asp696Gly) c.714A>G (n.714A>G) c.491A>G (p.Asp164Gly) c.1517A>G (p.Asp506Gly) | dbSNP |
| X | g.67711603A>T | CA413423385 | AR | c.*435A>T (n.*435A>T) c.2087A>T (p.Asp696Val) c.714A>T (n.714A>T) c.491A>T (p.Asp164Val) c.1517A>T (p.Asp506Val) | ClinVar dbSNP |
| X | g.67711604C>A | CA413423387 | AR | c.*436C>A (n.*436C>A) c.2088C>A (p.Asp696Glu) c.715C>A (n.715C>A) c.492C>A (p.Asp164Glu) c.1518C>A (p.Asp506Glu) | |
| X | g.67711604C= | CA2435130503 | AR | c.*436C= (n.*436C=) c.2088C= (p.Asp696=) c.715C= (n.715C=) c.492C= (p.Asp164=) c.1518C= (p.Asp506=) | |
| X | g.67711604C>G | CA413423388 | AR | c.*436C>G (n.*436C>G) c.2088C>G (p.Asp696Glu) c.715C>G (n.715C>G) c.492C>G (p.Asp164Glu) c.1518C>G (p.Asp506Glu) | |
| X | g.67711604C>T | CA517048466 | AR | c.*436C>T (n.*436C>T) c.2088C>T (p.Asp696=) c.715C>T (n.715C>T) c.492C>T (p.Asp164=) c.1518C>T (p.Asp506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711605T>A | CA413423389 | AR | c.*437T>A (n.*437T>A) c.2089T>A (p.Ser697Thr) c.716T>A (n.716T>A) c.493T>A (p.Ser165Thr) c.1519T>A (p.Ser507Thr) | COSMIC COSMIC COSMIC |
| X | g.67711605T>C | CA413423390 | AR | c.*437T>C (n.*437T>C) c.2089T>C (p.Ser697Pro) c.716T>C (n.716T>C) c.493T>C (p.Ser165Pro) c.1519T>C (p.Ser507Pro) | |
| X | g.67711605T>G | CA413423391 | AR | c.*437T>G (n.*437T>G) c.2089T>G (p.Ser697Ala) c.716T>G (n.716T>G) c.493T>G (p.Ser165Ala) c.1519T>G (p.Ser507Ala) | |
| X | g.67711606C>A | CA413423392 | AR | c.*438C>A (n.*438C>A) c.2090C>A (p.Ser697Tyr) c.717C>A (n.717C>A) c.494C>A (p.Ser165Tyr) c.1520C>A (p.Ser507Tyr) | ClinVar dbSNP |
| X | g.67711606C= | CA2435130504 | AR | c.*438C= (n.*438C=) c.2090C= (p.Ser697=) c.717C= (n.717C=) c.494C= (p.Ser165=) c.1520C= (p.Ser507=) | |
| X | g.67711606C>G | CA413423394 | AR | c.*438C>G (n.*438C>G) c.2090C>G (p.Ser697Cys) c.717C>G (n.717C>G) c.494C>G (p.Ser165Cys) c.1520C>G (p.Ser507Cys) | dbSNP |
| X | g.67711606C>T | CA413423393 | AR | c.*438C>T (n.*438C>T) c.2090C>T (p.Ser697Phe) c.717C>T (n.717C>T) c.494C>T (p.Ser165Phe) c.1520C>T (p.Ser507Phe) | dbSNP |
| X | g.67711607C>A | CA517048475 | AR | c.*439C>A (n.*439C>A) c.2091C>A (p.Ser697=) c.718C>A (n.718C>A) c.495C>A (p.Ser165=) c.1521C>A (p.Ser507=) | |
| X | g.67711607C>G | CA517048476 | AR | c.*439C>G (n.*439C>G) c.2091C>G (p.Ser697=) c.718C>G (n.718C>G) c.495C>G (p.Ser165=) c.1521C>G (p.Ser507=) | |
| X | g.67711607C>T | CA517048477 | AR | c.*439C>T (n.*439C>T) c.2091C>T (p.Ser697=) c.718C>T (n.718C>T) c.495C>T (p.Ser165=) c.1521C>T (p.Ser507=) | gnomAD v4 COSMIC COSMIC |
| X | g.67711608T>A | CA413423395 | AR | c.*440T>A (n.*440T>A) c.2092T>A (p.Phe698Ile) c.719T>A (n.719T>A) c.496T>A (p.Phe166Ile) c.1522T>A (p.Phe508Ile) | dbSNP |
| X | g.67711608T>C | CA413423396 | AR | c.*440T>C (n.*440T>C) c.2092T>C (p.Phe698Leu) c.719T>C (n.719T>C) c.496T>C (p.Phe166Leu) c.1522T>C (p.Phe508Leu) | |
| X | g.67711608T>G | CA413423397 | AR | c.*440T>G (n.*440T>G) c.2092T>G (p.Phe698Val) c.719T>G (n.719T>G) c.496T>G (p.Phe166Val) c.1522T>G (p.Phe508Val) | |
| X | g.67711609T>A | CA413423398 | AR | c.*441T>A (n.*441T>A) c.2093T>A (p.Phe698Tyr) c.720T>A (n.720T>A) c.497T>A (p.Phe166Tyr) c.1523T>A (p.Phe508Tyr) | |
| X | g.67711609T>C | CA413423399 | AR | c.*441T>C (n.*441T>C) c.2093T>C (p.Phe698Ser) c.720T>C (n.720T>C) c.497T>C (p.Phe166Ser) c.1523T>C (p.Phe508Ser) | |
| X | g.67711609T>G | CA413423400 | AR | c.*441T>G (n.*441T>G) c.2093T>G (p.Phe698Cys) c.720T>G (n.720T>G) c.497T>G (p.Phe166Cys) c.1523T>G (p.Phe508Cys) | |
| X | g.67711610T>A | CA413423401 | AR | c.*442T>A (n.*442T>A) c.2094T>A (p.Phe698Leu) c.721T>A (n.721T>A) c.498T>A (p.Phe166Leu) c.1524T>A (p.Phe508Leu) | |
| X | g.67711610T>C | CA517048482 | AR | c.*442T>C (n.*442T>C) c.2094T>C (p.Phe698=) c.721T>C (n.721T>C) c.498T>C (p.Phe166=) c.1524T>C (p.Phe508=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711610T>G | CA413423402 | AR | c.*442T>G (n.*442T>G) c.2094T>G (p.Phe698Leu) c.721T>G (n.721T>G) c.498T>G (p.Phe166Leu) c.1524T>G (p.Phe508Leu) | |
| X | g.67711610T= | CA2435130505 | AR | c.*442T= (n.*442T=) c.2094T= (p.Phe698=) c.721T= (n.721T=) c.498T= (p.Phe166=) c.1524T= (p.Phe508=) | |
| X | g.67711611G>A | CA413423403 | AR | c.*443G>A (n.*443G>A) c.2095G>A (p.Ala699Thr) c.722G>A (n.722G>A) c.499G>A (p.Ala167Thr) c.1525G>A (p.Ala509Thr) | dbSNP gnomAD v4 |
| X | g.67711611G>C | CA413423404 | AR | c.*443G>C (n.*443G>C) c.2095G>C (p.Ala699Pro) c.722G>C (n.722G>C) c.499G>C (p.Ala167Pro) c.1525G>C (p.Ala509Pro) | gnomAD v4 |
| X | g.67711611G>T | CA413423405 | AR | c.*443G>T (n.*443G>T) c.2095G>T (p.Ala699Ser) c.722G>T (n.722G>T) c.499G>T (p.Ala167Ser) c.1525G>T (p.Ala509Ser) | |
| X | g.67711612C>A | CA413423406 | AR | c.*444C>A (n.*444C>A) c.2096C>A (p.Ala699Glu) c.723C>A (n.723C>A) c.500C>A (p.Ala167Glu) c.1526C>A (p.Ala509Glu) | dbSNP |
| X | g.67711612C>G | CA413423408 | AR | c.*444C>G (n.*444C>G) c.2096C>G (p.Ala699Gly) c.723C>G (n.723C>G) c.500C>G (p.Ala167Gly) c.1526C>G (p.Ala509Gly) | dbSNP |
| X | g.67711612C>T | CA413423407 | AR | c.*444C>T (n.*444C>T) c.2096C>T (p.Ala699Val) c.723C>T (n.723C>T) c.500C>T (p.Ala167Val) c.1526C>T (p.Ala509Val) | dbSNP |
| X | g.67711613A>C | CA517048485 | AR | c.*445A>C (n.*445A>C) c.2097A>C (p.Ala699=) c.724A>C (n.724A>C) c.501A>C (p.Ala167=) c.1527A>C (p.Ala509=) | gnomAD v4 |
| X | g.67711613A>G | CA517048486 | AR | c.*445A>G (n.*445A>G) c.2097A>G (p.Ala699=) c.724A>G (n.724A>G) c.501A>G (p.Ala167=) c.1527A>G (p.Ala509=) | ClinVar dbSNP |
| X | g.67711613A>T | CA517048490 | AR | c.*445A>T (n.*445A>T) c.2097A>T (p.Ala699=) c.724A>T (n.724A>T) c.501A>T (p.Ala167=) c.1527A>T (p.Ala509=) | dbSNP |
| X | g.67711614G>A | CA413423409 | AR | c.*446G>A (n.*446G>A) c.2098G>A (p.Ala700Thr) c.725G>A (n.725G>A) c.502G>A (p.Ala168Thr) c.1528G>A (p.Ala510Thr) | dbSNP gnomAD v4 |
| X | g.67711614G>C | CA413423410 | AR | c.*446G>C (n.*446G>C) c.2098G>C (p.Ala700Pro) c.725G>C (n.725G>C) c.502G>C (p.Ala168Pro) c.1528G>C (p.Ala510Pro) | dbSNP |
| X | g.67711614G= | CA2435130506 | AR | c.*446G= (n.*446G=) c.2098G= (p.Ala700=) c.725G= (n.725G=) c.502G= (p.Ala168=) c.1528G= (p.Ala510=) | |
| X | g.67711614G>T | CA413423411 | AR | c.*446G>T (n.*446G>T) c.2098G>T (p.Ala700Ser) c.725G>T (n.725G>T) c.502G>T (p.Ala168Ser) c.1528G>T (p.Ala510Ser) | dbSNP gnomAD v4 |
| X | g.67711615C>A | CA413423412 | AR | c.*447C>A (n.*447C>A) c.2099C>A (p.Ala700Asp) c.726C>A (n.726C>A) c.503C>A (p.Ala168Asp) c.1529C>A (p.Ala510Asp) | dbSNP |
| X | g.67711615C>G | CA413423413 | AR | c.*447C>G (n.*447C>G) c.2099C>G (p.Ala700Gly) c.726C>G (n.726C>G) c.503C>G (p.Ala168Gly) c.1529C>G (p.Ala510Gly) | dbSNP |
| X | g.67711615C>T | CA413423414 | AR | c.*447C>T (n.*447C>T) c.2099C>T (p.Ala700Val) c.726C>T (n.726C>T) c.503C>T (p.Ala168Val) c.1529C>T (p.Ala510Val) | dbSNP |
| X | g.67711616C>A | CA517048497 | AR | c.*448C>A (n.*448C>A) c.2100C>A (p.Ala700=) c.727C>A (n.727C>A) c.504C>A (p.Ala168=) c.1530C>A (p.Ala510=) | |
| X | g.67711616C>G | CA517048498 | AR | c.*448C>G (n.*448C>G) c.2100C>G (p.Ala700=) c.727C>G (n.727C>G) c.504C>G (p.Ala168=) c.1530C>G (p.Ala510=) | |
| X | g.67711616C>T | CA517048499 | AR | c.*448C>T (n.*448C>T) c.2100C>T (p.Ala700=) c.727C>T (n.727C>T) c.504C>T (p.Ala168=) c.1530C>T (p.Ala510=) | |
| X | g.67711617T>A | CA413423415 | AR | c.*449T>A (n.*449T>A) c.2101T>A (p.Leu701Met) c.728T>A (n.728T>A) c.505T>A (p.Leu169Met) c.1531T>A (p.Leu511Met) | dbSNP |
| X | g.67711617T>C | CA517048500 | AR | c.*449T>C (n.*449T>C) c.2101T>C (p.Leu701=) c.728T>C (n.728T>C) c.505T>C (p.Leu169=) c.1531T>C (p.Leu511=) | dbSNP |
| X | g.67711617T>G | CA413423416 | AR | c.*449T>G (n.*449T>G) c.2101T>G (p.Leu701Val) c.728T>G (n.728T>G) c.505T>G (p.Leu169Val) c.1531T>G (p.Leu511Val) | |
| X | g.67711617_67711630del | CA2695234364 | AR | c.*449_*462del (n.*449_*462del) c.2101_2114del (p.Leu701GlnfsTer2) c.728_741del (n.728_741del) c.505_518del (p.Leu169GlnfsTer2) c.1531_1544del (p.Leu511GlnfsTer2) | |
| X | g.67711618T>A | CA413423417 | AR | c.*450T>A (n.*450T>A) c.2102T>A (p.Leu701Ter) c.729T>A (n.729T>A) c.506T>A (p.Leu169Ter) c.1532T>A (p.Leu511Ter) | dbSNP |
| X | g.67711618T>C | CA413423418 | AR | c.*450T>C (n.*450T>C) c.2102T>C (p.Leu701Ser) c.729T>C (n.729T>C) c.506T>C (p.Leu169Ser) c.1532T>C (p.Leu511Ser) | dbSNP |
| X | g.67711618T>G | CA413423419 | AR | c.*450T>G (n.*450T>G) c.2102T>G (p.Leu701Trp) c.729T>G (n.729T>G) c.506T>G (p.Leu169Trp) c.1532T>G (p.Leu511Trp) | |
| X | g.67711619G>A | CA517048508 | AR | c.*451G>A (n.*451G>A) c.2103G>A (p.Leu701=) c.730G>A (n.730G>A) c.507G>A (p.Leu169=) c.1533G>A (p.Leu511=) | dbSNP |
| X | g.67711619G>C | CA413423420 | AR | c.*451G>C (n.*451G>C) c.2103G>C (p.Leu701Phe) c.730G>C (n.730G>C) c.507G>C (p.Leu169Phe) c.1533G>C (p.Leu511Phe) | |
| X | g.67711619G= | CA2435130507 | AR | c.*451G= (n.*451G=) c.2103G= (p.Leu701=) c.730G= (n.730G=) c.507G= (p.Leu169=) c.1533G= (p.Leu511=) | |
| X | g.67711619G>T | CA413423421 | AR | c.*451G>T (n.*451G>T) c.2103G>T (p.Leu701Phe) c.730G>T (n.730G>T) c.507G>T (p.Leu169Phe) c.1533G>T (p.Leu511Phe) | ClinVar dbSNP |
| X | g.67711620C>A | CA413423424 | AR | c.*452C>A (n.*452C>A) c.2104C>A (p.Leu702Ile) c.731C>A (n.731C>A) c.508C>A (p.Leu170Ile) c.1534C>A (p.Leu512Ile) | dbSNP |
| X | g.67711620C= | CA2435130508 | AR | c.*452C= (n.*452C=) c.2104C= (p.Leu702=) c.731C= (n.731C=) c.508C= (p.Leu170=) c.1534C= (p.Leu512=) | |
| X | g.67711620C>G | CA413423423 | AR | c.*452C>G (n.*452C>G) c.2104C>G (p.Leu702Val) c.731C>G (n.731C>G) c.508C>G (p.Leu170Val) c.1534C>G (p.Leu512Val) | dbSNP |
| X | g.67711620C>T | CA413423422 | AR | c.*452C>T (n.*452C>T) c.2104C>T (p.Leu702Phe) c.731C>T (n.731C>T) c.508C>T (p.Leu170Phe) c.1534C>T (p.Leu512Phe) | ClinVar dbSNP |
| X | g.67711621T>A | CA348332 | AR | c.*453T>A (n.*453T>A) c.2105T>A (p.Leu702His) c.732T>A (n.732T>A) c.509T>A (p.Leu170His) c.1535T>A (p.Leu512His) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.67711621T>C | CA413423425 | AR | c.*453T>C (n.*453T>C) c.2105T>C (p.Leu702Pro) c.732T>C (n.732T>C) c.509T>C (p.Leu170Pro) c.1535T>C (p.Leu512Pro) | dbSNP |
| X | g.67711621T>G | CA413423426 | AR | c.*453T>G (n.*453T>G) c.2105T>G (p.Leu702Arg) c.732T>G (n.732T>G) c.509T>G (p.Leu170Arg) c.1535T>G (p.Leu512Arg) | |
| X | g.67711621T= | CA2435130509 | AR | c.*453T= (n.*453T=) c.2105T= (p.Leu702=) c.732T= (n.732T=) c.509T= (p.Leu170=) c.1535T= (p.Leu512=) | |
| X | g.67711622C>A | CA517048514 | AR | c.*454C>A (n.*454C>A) c.2106C>A (p.Leu702=) c.733C>A (n.733C>A) c.510C>A (p.Leu170=) c.1536C>A (p.Leu512=) | dbSNP COSMIC COSMIC |
| X | g.67711622C= | CA2435130510 | AR | c.*454C= (n.*454C=) c.2106C= (p.Leu702=) c.733C= (n.733C=) c.510C= (p.Leu170=) c.1536C= (p.Leu512=) | |
| X | g.67711622C>G | CA10436576 | AR | c.*454C>G (n.*454C>G) c.2106C>G (p.Leu702=) c.733C>G (n.733C>G) c.510C>G (p.Leu170=) c.1536C>G (p.Leu512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711622C>T | CA10436577 | AR | c.*454C>T (n.*454C>T) c.2106C>T (p.Leu702=) c.733C>T (n.733C>T) c.510C>T (p.Leu170=) c.1536C>T (p.Leu512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711623T>A | CA413423427 | AR | c.*455T>A (n.*455T>A) c.2107T>A (p.Ser703Thr) c.734T>A (n.734T>A) c.511T>A (p.Ser171Thr) c.1537T>A (p.Ser513Thr) | dbSNP |
| X | g.67711623T>C | CA413423428 | AR | c.*455T>C (n.*455T>C) c.2107T>C (p.Ser703Pro) c.734T>C (n.734T>C) c.511T>C (p.Ser171Pro) c.1537T>C (p.Ser513Pro) | dbSNP |
| X | g.67711623T>G | CA413423429 | AR | c.*455T>G (n.*455T>G) c.2107T>G (p.Ser703Ala) c.734T>G (n.734T>G) c.511T>G (p.Ser171Ala) c.1537T>G (p.Ser513Ala) | |
| X | g.67711624C>A | CA413423430 | AR | c.*456C>A (n.*456C>A) c.2108C>A (p.Ser703Tyr) c.735C>A (n.735C>A) c.512C>A (p.Ser171Tyr) c.1538C>A (p.Ser513Tyr) | dbSNP |
| X | g.67711624C>G | CA413423431 | AR | c.*456C>G (n.*456C>G) c.2108C>G (p.Ser703Cys) c.735C>G (n.735C>G) c.512C>G (p.Ser171Cys) c.1538C>G (p.Ser513Cys) | dbSNP |
| X | g.67711624C>T | CA413423432 | AR | c.*456C>T (n.*456C>T) c.2108C>T (p.Ser703Phe) c.735C>T (n.735C>T) c.512C>T (p.Ser171Phe) c.1538C>T (p.Ser513Phe) | dbSNP |
| X | g.67711625T>A | CA517048526 | AR | c.*457T>A (n.*457T>A) c.2109T>A (p.Ser703=) c.736T>A (n.736T>A) c.513T>A (p.Ser171=) c.1539T>A (p.Ser513=) | |
| X | g.67711625T>C | CA517048527 | AR | c.*457T>C (n.*457T>C) c.2109T>C (p.Ser703=) c.736T>C (n.736T>C) c.513T>C (p.Ser171=) c.1539T>C (p.Ser513=) | |
| X | g.67711625T>G | CA517048529 | AR | c.*457T>G (n.*457T>G) c.2109T>G (p.Ser703=) c.736T>G (n.736T>G) c.513T>G (p.Ser171=) c.1539T>G (p.Ser513=) | gnomAD v4 |
| X | g.67711626A>C | CA413423433 | AR | c.*458A>C (n.*458A>C) c.2110A>C (p.Ser704Arg) c.737A>C (n.737A>C) c.514A>C (p.Ser172Arg) c.1540A>C (p.Ser514Arg) | |
| X | g.67711626A>G | CA413423434 | AR | c.*458A>G (n.*458A>G) c.2110A>G (p.Ser704Gly) c.737A>G (n.737A>G) c.514A>G (p.Ser172Gly) c.1540A>G (p.Ser514Gly) | dbSNP |
| X | g.67711626A>T | CA413423435 | AR | c.*458A>T (n.*458A>T) c.2110A>T (p.Ser704Cys) c.737A>T (n.737A>T) c.514A>T (p.Ser172Cys) c.1540A>T (p.Ser514Cys) | dbSNP |
| X | g.67711627G>A | CA413423437 | AR | c.*459G>A (n.*459G>A) c.2111G>A (p.Ser704Asn) c.738G>A (n.738G>A) c.515G>A (p.Ser172Asn) c.1541G>A (p.Ser514Asn) | dbSNP |
| X | g.67711627G>C | CA413423438 | AR | c.*459G>C (n.*459G>C) c.2111G>C (p.Ser704Thr) c.738G>C (n.738G>C) c.515G>C (p.Ser172Thr) c.1541G>C (p.Ser514Thr) | dbSNP |
| X | g.67711627G>T | CA413423436 | AR | c.*459G>T (n.*459G>T) c.2111G>T (p.Ser704Ile) c.738G>T (n.738G>T) c.515G>T (p.Ser172Ile) c.1541G>T (p.Ser514Ile) | |
| X | g.67711628C>A | CA413423439 | AR | c.*460C>A (n.*460C>A) c.2112C>A (p.Ser704Arg) c.739C>A (n.739C>A) c.516C>A (p.Ser172Arg) c.1542C>A (p.Ser514Arg) | dbSNP |
| X | g.67711628C>G | CA413423440 | AR | c.*460C>G (n.*460C>G) c.2112C>G (p.Ser704Arg) c.739C>G (n.739C>G) c.516C>G (p.Ser172Arg) c.1542C>G (p.Ser514Arg) | dbSNP |
| X | g.67711628C>T | CA517048533 | AR | c.*460C>T (n.*460C>T) c.2112C>T (p.Ser704=) c.739C>T (n.739C>T) c.516C>T (p.Ser172=) c.1542C>T (p.Ser514=) | dbSNP |
| X | g.67711629C>A | CA413423441 | AR | c.*461C>A (n.*461C>A) c.2113C>A (p.Leu705Ile) c.740C>A (n.740C>A) c.517C>A (p.Leu173Ile) c.1543C>A (p.Leu515Ile) | dbSNP |
| X | g.67711629C>G | CA413423442 | AR | c.*461C>G (n.*461C>G) c.2113C>G (p.Leu705Val) c.740C>G (n.740C>G) c.517C>G (p.Leu173Val) c.1543C>G (p.Leu515Val) | |
| X | g.67711629C>T | CA413423443 | AR | c.*461C>T (n.*461C>T) c.2113C>T (p.Leu705Phe) c.740C>T (n.740C>T) c.517C>T (p.Leu173Phe) c.1543C>T (p.Leu515Phe) | dbSNP |
| X | g.67711630T>A | CA413423444 | AR | c.*462T>A (n.*462T>A) c.2114T>A (p.Leu705His) c.741T>A (n.741T>A) c.518T>A (p.Leu173His) c.1544T>A (p.Leu515His) | |
| X | g.67711630T>C | CA413423445 | AR | c.*462T>C (n.*462T>C) c.2114T>C (p.Leu705Pro) c.741T>C (n.741T>C) c.518T>C (p.Leu173Pro) c.1544T>C (p.Leu515Pro) | dbSNP |
| X | g.67711630T>G | CA413423446 | AR | c.*462T>G (n.*462T>G) c.2114T>G (p.Leu705Arg) c.741T>G (n.741T>G) c.518T>G (p.Leu173Arg) c.1544T>G (p.Leu515Arg) | |
| X | g.67711631C>A | CA517048536 | AR | c.*463C>A (n.*463C>A) c.2115C>A (p.Leu705=) c.742C>A (n.742C>A) c.519C>A (p.Leu173=) c.1545C>A (p.Leu515=) | dbSNP |
| X | g.67711631C>G | CA517048537 | AR | c.*463C>G (n.*463C>G) c.2115C>G (p.Leu705=) c.742C>G (n.742C>G) c.519C>G (p.Leu173=) c.1545C>G (p.Leu515=) | dbSNP |
| X | g.67711631C>T | CA517048539 | AR | c.*463C>T (n.*463C>T) c.2115C>T (p.Leu705=) c.742C>T (n.742C>T) c.519C>T (p.Leu173=) c.1545C>T (p.Leu515=) | ClinVar COSMIC COSMIC COSMIC |
| X | g.67711632A>C | CA413423447 | AR | c.*464A>C (n.*464A>C) c.2116A>C (p.Asn706His) c.743A>C (n.743A>C) c.520A>C (p.Asn174His) c.1546A>C (p.Asn516His) | gnomAD v4 |
| X | g.67711632A>G | CA413423448 | AR | c.*464A>G (n.*464A>G) c.2116A>G (p.Asn706Asp) c.743A>G (n.743A>G) c.520A>G (p.Asn174Asp) c.1546A>G (p.Asn516Asp) | dbSNP |
| X | g.67711632A>T | CA413423449 | AR | c.*464A>T (n.*464A>T) c.2116A>T (p.Asn706Tyr) c.743A>T (n.743A>T) c.520A>T (p.Asn174Tyr) c.1546A>T (p.Asn516Tyr) | dbSNP |
| X | g.67711633A= | CA2435130511 | AR | c.*465A= (n.*465A=) c.2117A= (p.Asn706=) c.744A= (n.744A=) c.521A= (p.Asn174=) c.1547A= (p.Asn516=) | |
| X | g.67711633A>C | CA330771348 | AR | c.*465A>C (n.*465A>C) c.2117A>C (p.Asn706Thr) c.744A>C (n.744A>C) c.521A>C (p.Asn174Thr) c.1547A>C (p.Asn516Thr) | dbSNP |
| X | g.67711633A>G | CA413423451 | AR | c.*465A>G (n.*465A>G) c.2117A>G (p.Asn706Ser) c.744A>G (n.744A>G) c.521A>G (p.Asn174Ser) c.1547A>G (p.Asn516Ser) | ClinVar dbSNP |
| X | g.67711633A>T | CA413423450 | AR | c.*465A>T (n.*465A>T) c.2117A>T (p.Asn706Ile) c.744A>T (n.744A>T) c.521A>T (p.Asn174Ile) c.1547A>T (p.Asn516Ile) | dbSNP |
| X | g.67711634T>A | CA413423452 | AR | c.*466T>A (n.*466T>A) c.2118T>A (p.Asn706Lys) c.745T>A (n.745T>A) c.522T>A (p.Asn174Lys) c.1548T>A (p.Asn516Lys) | dbSNP |
| X | g.67711634T>C | CA517048545 | AR | c.*466T>C (n.*466T>C) c.2118T>C (p.Asn706=) c.745T>C (n.745T>C) c.522T>C (p.Asn174=) c.1548T>C (p.Asn516=) | |
| X | g.67711634T>G | CA413423453 | AR | c.*466T>G (n.*466T>G) c.2118T>G (p.Asn706Lys) c.745T>G (n.745T>G) c.522T>G (p.Asn174Lys) c.1548T>G (p.Asn516Lys) | |
| X | g.67711635G>A | CA413423454 | AR | c.*467G>A (n.*467G>A) c.2119G>A (p.Glu707Lys) c.746G>A (n.746G>A) c.523G>A (p.Glu175Lys) c.1549G>A (p.Glu517Lys) | dbSNP |
| X | g.67711635G>C | CA413423455 | AR | c.*467G>C (n.*467G>C) c.2119G>C (p.Glu707Gln) c.746G>C (n.746G>C) c.523G>C (p.Glu175Gln) c.1549G>C (p.Glu517Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711635G= | CA2435130512 | AR | c.*467G= (n.*467G=) c.2119G= (p.Glu707=) c.746G= (n.746G=) c.523G= (p.Glu175=) c.1549G= (p.Glu517=) | |
| X | g.67711635G>T | CA413423456 | AR | c.*467G>T (n.*467G>T) c.2119G>T (p.Glu707Ter) c.746G>T (n.746G>T) c.523G>T (p.Glu175Ter) c.1549G>T (p.Glu517Ter) | COSMIC COSMIC |
| X | g.67711636A>C | CA413423457 | AR | c.*468A>C (n.*468A>C) c.2120A>C (p.Glu707Ala) c.747A>C (n.747A>C) c.524A>C (p.Glu175Ala) c.1550A>C (p.Glu517Ala) | dbSNP |
| X | g.67711636A>G | CA413423458 | AR | c.*468A>G (n.*468A>G) c.2120A>G (p.Glu707Gly) c.747A>G (n.747A>G) c.524A>G (p.Glu175Gly) c.1550A>G (p.Glu517Gly) | |
| X | g.67711636A>T | CA413423459 | AR | c.*468A>T (n.*468A>T) c.2120A>T (p.Glu707Val) c.747A>T (n.747A>T) c.524A>T (p.Glu175Val) c.1550A>T (p.Glu517Val) | dbSNP |
| X | g.67711637A= | CA2435130513 | AR | c.*469A= (n.*469A=) c.2121A= (p.Glu707=) c.748A= (n.748A=) c.525A= (p.Glu175=) c.1551A= (p.Glu517=) | |
| X | g.67711637A>C | CA413423460 | AR | c.*469A>C (n.*469A>C) c.2121A>C (p.Glu707Asp) c.748A>C (n.748A>C) c.525A>C (p.Glu175Asp) c.1551A>C (p.Glu517Asp) | ClinVar dbSNP |
| X | g.67711637A>G | CA517048549 | AR | c.*469A>G (n.*469A>G) c.2121A>G (p.Glu707=) c.748A>G (n.748A>G) c.525A>G (p.Glu175=) c.1551A>G (p.Glu517=) | dbSNP COSMIC |
| X | g.67711637A>T | CA413423461 | AR | c.*469A>T (n.*469A>T) c.2121A>T (p.Glu707Asp) c.748A>T (n.748A>T) c.525A>T (p.Glu175Asp) c.1551A>T (p.Glu517Asp) | dbSNP |
| X | g.67711638C>A | CA413423462 | AR | c.*470C>A (n.*470C>A) c.2122C>A (p.Leu708Met) c.749C>A (n.749C>A) c.526C>A (p.Leu176Met) c.1552C>A (p.Leu518Met) | dbSNP |
| X | g.67711638C>G | CA413423463 | AR | c.*470C>G (n.*470C>G) c.2122C>G (p.Leu708Val) c.749C>G (n.749C>G) c.526C>G (p.Leu176Val) c.1552C>G (p.Leu518Val) | dbSNP |
| X | g.67711638C>T | CA517048551 | AR | c.*470C>T (n.*470C>T) c.2122C>T (p.Leu708=) c.749C>T (n.749C>T) c.526C>T (p.Leu176=) c.1552C>T (p.Leu518=) | dbSNP gnomAD v4 |
| X | g.67711639T>A | CA413423464 | AR | c.*471T>A (n.*471T>A) c.2123T>A (p.Leu708Gln) c.750T>A (n.750T>A) c.527T>A (p.Leu176Gln) c.1553T>A (p.Leu518Gln) | |
| X | g.67711639T>C | CA413423465 | AR | c.*471T>C (n.*471T>C) c.2123T>C (p.Leu708Pro) c.750T>C (n.750T>C) c.527T>C (p.Leu176Pro) c.1553T>C (p.Leu518Pro) | |
| X | g.67711639T>G | CA120755 | AR | c.*471T>G (n.*471T>G) c.2123T>G (p.Leu708Arg) c.750T>G (n.750T>G) c.527T>G (p.Leu176Arg) c.1553T>G (p.Leu518Arg) | ClinVar dbSNP |
| X | g.67711639T= | CA2435130514 | AR | c.*471T= (n.*471T=) c.2123T= (p.Leu708=) c.750T= (n.750T=) c.527T= (p.Leu176=) c.1553T= (p.Leu518=) | |
| X | g.67711639_67711651del | CA2695234365 | AR | c.*471_*483del (n.*471_*483del) c.2123_2135del (p.Leu708ArgfsTer?) c.750_762del (n.750_762del) c.527_539del (p.Leu176ArgfsTer?) c.1553_1565del (p.Leu518ArgfsTer?) | |
| X | g.67711640G>A | CA517048558 | AR | c.*472G>A (n.*472G>A) c.2124G>A (p.Leu708=) c.751G>A (n.751G>A) c.528G>A (p.Leu176=) c.1554G>A (p.Leu518=) | dbSNP |
| X | g.67711640G>C | CA10436578 | AR | c.*472G>C (n.*472G>C) c.2124G>C (p.Leu708=) c.751G>C (n.751G>C) c.528G>C (p.Leu176=) c.1554G>C (p.Leu518=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711640G= | CA2435130515 | AR | c.*472G= (n.*472G=) c.2124G= (p.Leu708=) c.751G= (n.751G=) c.528G= (p.Leu176=) c.1554G= (p.Leu518=) | |
| X | g.67711640G>T | CA517048556 | AR | c.*472G>T (n.*472G>T) c.2124G>T (p.Leu708=) c.751G>T (n.751G>T) c.528G>T (p.Leu176=) c.1554G>T (p.Leu518=) | dbSNP |
| X | g.67711641G>A | CA413423468 | AR | c.*473G>A (n.*473G>A) c.2125G>A (p.Gly709Arg) c.752G>A (n.752G>A) c.529G>A (p.Gly177Arg) c.1555G>A (p.Gly519Arg) | ClinVar dbSNP |
| X | g.67711641G>C | CA413423466 | AR | c.*473G>C (n.*473G>C) c.2125G>C (p.Gly709Arg) c.752G>C (n.752G>C) c.529G>C (p.Gly177Arg) c.1555G>C (p.Gly519Arg) | |
| X | g.67711641G= | CA2435130516 | AR | c.*473G= (n.*473G=) c.2125G= (p.Gly709=) c.752G= (n.752G=) c.529G= (p.Gly177=) c.1555G= (p.Gly519=) | |
| X | g.67711641G>T | CA413423467 | AR | c.*473G>T (n.*473G>T) c.2125G>T (p.Gly709Ter) c.752G>T (n.752G>T) c.529G>T (p.Gly177Ter) c.1555G>T (p.Gly519Ter) | |
| X | g.67711642G>A | CA413423469 | AR | c.*474G>A (n.*474G>A) c.2126G>A (p.Gly709Glu) c.753G>A (n.753G>A) c.530G>A (p.Gly177Glu) c.1556G>A (p.Gly519Glu) | ClinVar dbSNP |
| X | g.67711642G>C | CA413423470 | AR | c.*474G>C (n.*474G>C) c.2126G>C (p.Gly709Ala) c.753G>C (n.753G>C) c.530G>C (p.Gly177Ala) c.1556G>C (p.Gly519Ala) | dbSNP |
| X | g.67711642G>T | CA413423471 | AR | c.*474G>T (n.*474G>T) c.2126G>T (p.Gly709Val) c.753G>T (n.753G>T) c.530G>T (p.Gly177Val) c.1556G>T (p.Gly519Val) | ClinVar dbSNP |
| X | g.67711643A>C | CA517048574 | AR | c.*475A>C (n.*475A>C) c.2127A>C (p.Gly709=) c.754A>C (n.754A>C) c.531A>C (p.Gly177=) c.1557A>C (p.Gly519=) | |
| X | g.67711643A>G | CA517048571 | AR | c.*475A>G (n.*475A>G) c.2127A>G (p.Gly709=) c.754A>G (n.754A>G) c.531A>G (p.Gly177=) c.1557A>G (p.Gly519=) | dbSNP |
| X | g.67711643A>T | CA517048569 | AR | c.*475A>T (n.*475A>T) c.2127A>T (p.Gly709=) c.754A>T (n.754A>T) c.531A>T (p.Gly177=) c.1557A>T (p.Gly519=) | dbSNP |
| X | g.67711644G>A | CA413423472 | AR | c.*476G>A (n.*476G>A) c.2128G>A (p.Glu710Lys) c.755G>A (n.755G>A) c.532G>A (p.Glu178Lys) c.1558G>A (p.Glu520Lys) | ClinVar dbSNP |
| X | g.67711644G>C | CA413423473 | AR | c.*476G>C (n.*476G>C) c.2128G>C (p.Glu710Gln) c.755G>C (n.755G>C) c.532G>C (p.Glu178Gln) c.1558G>C (p.Glu520Gln) | dbSNP |
| X | g.67711644G= | CA2435130517 | AR | c.*476G= (n.*476G=) c.2128G= (p.Glu710=) c.755G= (n.755G=) c.532G= (p.Glu178=) c.1558G= (p.Glu520=) | |
| X | g.67711644G>T | CA413423474 | AR | c.*476G>T (n.*476G>T) c.2128G>T (p.Glu710Ter) c.755G>T (n.755G>T) c.532G>T (p.Glu178Ter) c.1558G>T (p.Glu520Ter) | |
| X | g.67711645A>C | CA413423475 | AR | c.*477A>C (n.*477A>C) c.2129A>C (p.Glu710Ala) c.756A>C (n.756A>C) c.533A>C (p.Glu178Ala) c.1559A>C (p.Glu520Ala) | |
| X | g.67711645A>G | CA413423476 | AR | c.*477A>G (n.*477A>G) c.2129A>G (p.Glu710Gly) c.756A>G (n.756A>G) c.533A>G (p.Glu178Gly) c.1559A>G (p.Glu520Gly) | dbSNP |
| X | g.67711645A>T | CA413423477 | AR | c.*477A>T (n.*477A>T) c.2129A>T (p.Glu710Val) c.756A>T (n.756A>T) c.533A>T (p.Glu178Val) c.1559A>T (p.Glu520Val) | dbSNP |
| X | g.67711646G>A | CA517048582 | AR | c.*478G>A (n.*478G>A) c.2130G>A (p.Glu710=) c.757G>A (n.757G>A) c.534G>A (p.Glu178=) c.1560G>A (p.Glu520=) | dbSNP COSMIC |
| X | g.67711646G>C | CA413423478 | AR | c.*478G>C (n.*478G>C) c.2130G>C (p.Glu710Asp) c.757G>C (n.757G>C) c.534G>C (p.Glu178Asp) c.1560G>C (p.Glu520Asp) | dbSNP |
| X | g.67711646G= | CA2435130518 | AR | c.*478G= (n.*478G=) c.2130G= (p.Glu710=) c.757G= (n.757G=) c.534G= (p.Glu178=) c.1560G= (p.Glu520=) | |
| X | g.67711646G>T | CA413423479 | AR | c.*478G>T (n.*478G>T) c.2130G>T (p.Glu710Asp) c.757G>T (n.757G>T) c.534G>T (p.Glu178Asp) c.1560G>T (p.Glu520Asp) | |
| X | g.67711647A>C | CA517048587 | AR | c.*479A>C (n.*479A>C) c.2131A>C (p.Arg711=) c.758A>C (n.758A>C) c.535A>C (p.Arg179=) c.1561A>C (p.Arg521=) | |
| X | g.67711647A>G | CA413423481 | AR | c.*479A>G (n.*479A>G) c.2131A>G (p.Arg711Gly) c.758A>G (n.758A>G) c.535A>G (p.Arg179Gly) c.1561A>G (p.Arg521Gly) | dbSNP COSMIC COSMIC |
| X | g.67711647A>T | CA413423480 | AR | c.*479A>T (n.*479A>T) c.2131A>T (p.Arg711Ter) c.758A>T (n.758A>T) c.535A>T (p.Arg179Ter) c.1561A>T (p.Arg521Ter) | |
| X | g.67711648G>A | CA330771349 | AR | c.*480G>A (n.*480G>A) c.2132G>A (p.Arg711Lys) c.759G>A (n.759G>A) c.536G>A (p.Arg179Lys) c.1562G>A (p.Arg521Lys) | dbSNP |
| X | g.67711648G>C | CA413423482 | AR | c.*480G>C (n.*480G>C) c.2132G>C (p.Arg711Thr) c.759G>C (n.759G>C) c.536G>C (p.Arg179Thr) c.1562G>C (p.Arg521Thr) | dbSNP |
| X | g.67711648G= | CA2435130519 | AR | c.*480G= (n.*480G=) c.2132G= (p.Arg711=) c.759G= (n.759G=) c.536G= (p.Arg179=) c.1562G= (p.Arg521=) | |
| X | g.67711648G>T | CA413423483 | AR | c.*480G>T (n.*480G>T) c.2132G>T (p.Arg711Ile) c.759G>T (n.759G>T) c.536G>T (p.Arg179Ile) c.1562G>T (p.Arg521Ile) | COSMIC COSMIC |
| X | g.67711649A>C | CA413423484 | AR | c.*481A>C (n.*481A>C) c.2133A>C (p.Arg711Ser) c.760A>C (n.760A>C) c.537A>C (p.Arg179Ser) c.1563A>C (p.Arg521Ser) | dbSNP |
| X | g.67711649A>G | CA517048588 | AR | c.*481A>G (n.*481A>G) c.2133A>G (p.Arg711=) c.760A>G (n.760A>G) c.537A>G (p.Arg179=) c.1563A>G (p.Arg521=) | dbSNP |
| X | g.67711649A>T | CA413423485 | AR | c.*481A>T (n.*481A>T) c.2133A>T (p.Arg711Ser) c.760A>T (n.760A>T) c.537A>T (p.Arg179Ser) c.1563A>T (p.Arg521Ser) | dbSNP |
| X | g.67711650C>A | CA413423486 | AR | c.*482C>A (n.*482C>A) c.2134C>A (p.Gln712Lys) c.761C>A (n.761C>A) c.538C>A (p.Gln180Lys) c.1564C>A (p.Gln522Lys) | |
| X | g.67711650C= | CA2435130520 | AR | c.*482C= (n.*482C=) c.2134C= (p.Gln712=) c.761C= (n.761C=) c.538C= (p.Gln180=) c.1564C= (p.Gln522=) | |
| X | g.67711650C>G | CA413423487 | AR | c.*482C>G (n.*482C>G) c.2134C>G (p.Gln712Glu) c.761C>G (n.761C>G) c.538C>G (p.Gln180Glu) c.1564C>G (p.Gln522Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711650C>T | CA413423488 | AR | c.*482C>T (n.*482C>T) c.2134C>T (p.Gln712Ter) c.761C>T (n.761C>T) c.538C>T (p.Gln180Ter) c.1564C>T (p.Gln522Ter) | |
| X | g.67711651del | CA2695234366 | AR | c.*483del (n.*483del) c.2135del (p.Gln712ArgfsTer?) c.762del (n.762del) c.539del (p.Gln180ArgfsTer?) c.1565del (p.Gln522ArgfsTer?) | |
| X | g.67711651A>C | CA413423489 | AR | c.*483A>C (n.*483A>C) c.2135A>C (p.Gln712Pro) c.762A>C (n.762A>C) c.539A>C (p.Gln180Pro) c.1565A>C (p.Gln522Pro) | |
| X | g.67711651A>G | CA413423490 | AR | c.*483A>G (n.*483A>G) c.2135A>G (p.Gln712Arg) c.762A>G (n.762A>G) c.539A>G (p.Gln180Arg) c.1565A>G (p.Gln522Arg) | dbSNP |
| X | g.67711651A>T | CA413423491 | AR | c.*483A>T (n.*483A>T) c.2135A>T (p.Gln712Leu) c.762A>T (n.762A>T) c.539A>T (p.Gln180Leu) c.1565A>T (p.Gln522Leu) | dbSNP |
| X | g.67711652G>A | CA517048600 | AR | c.*484G>A (n.*484G>A) c.2136G>A (p.Gln712=) c.763G>A (n.763G>A) c.540G>A (p.Gln180=) c.1566G>A (p.Gln522=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.67711652G>C | CA413423492 | AR | c.*484G>C (n.*484G>C) c.2136G>C (p.Gln712His) c.763G>C (n.763G>C) c.540G>C (p.Gln180His) c.1566G>C (p.Gln522His) | dbSNP |
| X | g.67711652G= | CA2435130521 | AR | c.*484G= (n.*484G=) c.2136G= (p.Gln712=) c.763G= (n.763G=) c.540G= (p.Gln180=) c.1566G= (p.Gln522=) | |
| X | g.67711652G>T | CA413423493 | AR | c.*484G>T (n.*484G>T) c.2136G>T (p.Gln712His) c.763G>T (n.763G>T) c.540G>T (p.Gln180His) c.1566G>T (p.Gln522His) | |
| X | g.67711653C>A | CA16608973 | AR | c.*485C>A (n.*485C>A) c.2137C>A (p.Leu713Ile) c.764C>A (n.764C>A) c.541C>A (p.Leu181Ile) c.1567C>A (p.Leu523Ile) | ClinVar dbSNP |
| X | g.67711653C= | CA2435130522 | AR | c.*485C= (n.*485C=) c.2137C= (p.Leu713=) c.764C= (n.764C=) c.541C= (p.Leu181=) c.1567C= (p.Leu523=) | |
| X | g.67711653C>G | CA413423494 | AR | c.*485C>G (n.*485C>G) c.2137C>G (p.Leu713Val) c.764C>G (n.764C>G) c.541C>G (p.Leu181Val) c.1567C>G (p.Leu523Val) | dbSNP |
| X | g.67711653C>T | CA254900 | AR | c.*485C>T (n.*485C>T) c.2137C>T (p.Leu713Phe) c.764C>T (n.764C>T) c.541C>T (p.Leu181Phe) c.1567C>T (p.Leu523Phe) | ClinVar dbSNP |
| X | g.67711654T>A | CA413423495 | AR | c.*486T>A (n.*486T>A) c.2138T>A (p.Leu713His) c.765T>A (n.765T>A) c.542T>A (p.Leu181His) c.1568T>A (p.Leu523His) | dbSNP |
| X | g.67711654T>C | CA413423496 | AR | c.*486T>C (n.*486T>C) c.2138T>C (p.Leu713Pro) c.765T>C (n.765T>C) c.542T>C (p.Leu181Pro) c.1568T>C (p.Leu523Pro) | dbSNP |
| X | g.67711654T>G | CA413423497 | AR | c.*486T>G (n.*486T>G) c.2138T>G (p.Leu713Arg) c.765T>G (n.765T>G) c.542T>G (p.Leu181Arg) c.1568T>G (p.Leu523Arg) | |
| X | g.67711655T>A | CA517048610 | AR | c.*487T>A (n.*487T>A) c.2139T>A (p.Leu713=) c.766T>A (n.766T>A) c.543T>A (p.Leu181=) c.1569T>A (p.Leu523=) | dbSNP |
| X | g.67711655T>C | CA517048613 | AR | c.*487T>C (n.*487T>C) c.2139T>C (p.Leu713=) c.766T>C (n.766T>C) c.543T>C (p.Leu181=) c.1569T>C (p.Leu523=) | dbSNP |
| X | g.67711655T>G | CA517048616 | AR | c.*487T>G (n.*487T>G) c.2139T>G (p.Leu713=) c.766T>G (n.766T>G) c.543T>G (p.Leu181=) c.1569T>G (p.Leu523=) | |
| X | g.67711656G>A | CA413423498 | AR | c.*488G>A (n.*488G>A) c.2140G>A (p.Val714Ile) c.767G>A (n.767G>A) c.544G>A (p.Val182Ile) c.1570G>A (p.Val524Ile) | dbSNP gnomAD v2 |
| X | g.67711656G>C | CA413423499 | AR | c.*488G>C (n.*488G>C) c.2140G>C (p.Val714Leu) c.767G>C (n.767G>C) c.544G>C (p.Val182Leu) c.1570G>C (p.Val524Leu) | dbSNP |
| X | g.67711656G= | CA2435130523 | AR | c.*488G= (n.*488G=) c.2140G= (p.Val714=) c.767G= (n.767G=) c.544G= (p.Val182=) c.1570G= (p.Val524=) | |
| X | g.67711656G>T | CA413423500 | AR | c.*488G>T (n.*488G>T) c.2140G>T (p.Val714Leu) c.767G>T (n.767G>T) c.544G>T (p.Val182Leu) c.1570G>T (p.Val524Leu) | |
| X | g.67711657T>A | CA413423501 | AR | c.*489T>A (n.*489T>A) c.2141T>A (p.Val714Glu) c.768T>A (n.768T>A) c.545T>A (p.Val182Glu) c.1571T>A (p.Val524Glu) | dbSNP |
| X | g.67711657T>C | CA413423502 | AR | c.*489T>C (n.*489T>C) c.2141T>C (p.Val714Ala) c.768T>C (n.768T>C) c.545T>C (p.Val182Ala) c.1571T>C (p.Val524Ala) | dbSNP |
| X | g.67711657T>G | CA413423503 | AR | c.*489T>G (n.*489T>G) c.2141T>G (p.Val714Gly) c.768T>G (n.768T>G) c.545T>G (p.Val182Gly) c.1571T>G (p.Val524Gly) | dbSNP |
| X | g.67711658A>C | CA517048621 | AR | c.*490A>C (n.*490A>C) c.2142A>C (p.Val714=) c.769A>C (n.769A>C) c.546A>C (p.Val182=) c.1572A>C (p.Val524=) | dbSNP |
| X | g.67711658A>G | CA517048624 | AR | c.*490A>G (n.*490A>G) c.2142A>G (p.Val714=) c.769A>G (n.769A>G) c.546A>G (p.Val182=) c.1572A>G (p.Val524=) | ClinVar dbSNP gnomAD v4 |
| X | g.67711658A>T | CA517048625 | AR | c.*490A>T (n.*490A>T) c.2142A>T (p.Val714=) c.769A>T (n.769A>T) c.546A>T (p.Val182=) c.1572A>T (p.Val524=) | dbSNP |
| X | g.67711659C>A | CA413423504 | AR | c.*491C>A (n.*491C>A) c.2143C>A (p.His715Asn) c.770C>A (n.770C>A) c.547C>A (p.His183Asn) c.1573C>A (p.His525Asn) | gnomAD v4 |
| X | g.67711659C= | CA2435130524 | AR | c.*491C= (n.*491C=) c.2143C= (p.His715=) c.770C= (n.770C=) c.547C= (p.His183=) c.1573C= (p.His525=) | |
| X | g.67711659C>G | CA413423505 | AR | c.*491C>G (n.*491C>G) c.2143C>G (p.His715Asp) c.770C>G (n.770C>G) c.547C>G (p.His183Asp) c.1573C>G (p.His525Asp) | dbSNP |
| X | g.67711659C>T | CA413423506 | AR | c.*491C>T (n.*491C>T) c.2143C>T (p.His715Tyr) c.770C>T (n.770C>T) c.547C>T (p.His183Tyr) c.1573C>T (p.His525Tyr) | dbSNP |
| X | g.67711660A>C | CA413423509 | AR | c.*492A>C (n.*492A>C) c.2144A>C (p.His715Pro) c.771A>C (n.771A>C) c.548A>C (p.His183Pro) c.1574A>C (p.His525Pro) | dbSNP |
| X | g.67711660A>G | CA413423507 | AR | c.*492A>G (n.*492A>G) c.2144A>G (p.His715Arg) c.771A>G (n.771A>G) c.548A>G (p.His183Arg) c.1574A>G (p.His525Arg) | |
| X | g.67711660A>T | CA413423508 | AR | c.*492A>T (n.*492A>T) c.2144A>T (p.His715Leu) c.771A>T (n.771A>T) c.548A>T (p.His183Leu) c.1574A>T (p.His525Leu) | dbSNP |
| X | g.67711661C>A | CA413423510 | AR | c.*493C>A (n.*493C>A) c.2145C>A (p.His715Gln) c.772C>A (n.772C>A) c.549C>A (p.His183Gln) c.1575C>A (p.His525Gln) | dbSNP |
| X | g.67711661C= | CA2435130525 | AR | c.*493C= (n.*493C=) c.2145C= (p.His715=) c.772C= (n.772C=) c.549C= (p.His183=) c.1575C= (p.His525=) | |
| X | g.67711661C>G | CA413423511 | AR | c.*493C>G (n.*493C>G) c.2145C>G (p.His715Gln) c.772C>G (n.772C>G) c.549C>G (p.His183Gln) c.1575C>G (p.His525Gln) | dbSNP |
| X | g.67711661C>T | CA517048631 | AR | c.*493C>T (n.*493C>T) c.2145C>T (p.His715=) c.772C>T (n.772C>T) c.549C>T (p.His183=) c.1575C>T (p.His525=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711662G>A | CA413423512 | AR | c.*494G>A (n.*494G>A) c.2146G>A (p.Val716Met) c.773G>A (n.773G>A) c.550G>A (p.Val184Met) c.1576G>A (p.Val526Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.67711662G>C | CA413423513 | AR | c.*494G>C (n.*494G>C) c.2146G>C (p.Val716Leu) c.773G>C (n.773G>C) c.550G>C (p.Val184Leu) c.1576G>C (p.Val526Leu) | dbSNP |
| X | g.67711662G= | CA2435130526 | AR | c.*494G= (n.*494G=) c.2146G= (p.Val716=) c.773G= (n.773G=) c.550G= (p.Val184=) c.1576G= (p.Val526=) | |
| X | g.67711662G>T | CA413423514 | AR | c.*494G>T (n.*494G>T) c.2146G>T (p.Val716Leu) c.773G>T (n.773G>T) c.550G>T (p.Val184Leu) c.1576G>T (p.Val526Leu) | |
| X | g.67711663T>A | CA413423515 | AR | c.*495T>A (n.*495T>A) c.2147T>A (p.Val716Glu) c.774T>A (n.774T>A) c.551T>A (p.Val184Glu) c.1577T>A (p.Val526Glu) | |
| X | g.67711663T>C | CA413423516 | AR | c.*495T>C (n.*495T>C) c.2147T>C (p.Val716Ala) c.774T>C (n.774T>C) c.551T>C (p.Val184Ala) c.1577T>C (p.Val526Ala) | |
| X | g.67711663T>G | CA413423517 | AR | c.*495T>G (n.*495T>G) c.2147T>G (p.Val716Gly) c.774T>G (n.774T>G) c.551T>G (p.Val184Gly) c.1577T>G (p.Val526Gly) | |
| X | g.67711664G>A | CA517048642 | AR | c.*496G>A (n.*496G>A) c.2148G>A (p.Val716=) c.775G>A (n.775G>A) c.552G>A (p.Val184=) c.1578G>A (p.Val526=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711664G>C | CA517048645 | AR | c.*496G>C (n.*496G>C) c.2148G>C (p.Val716=) c.775G>C (n.775G>C) c.552G>C (p.Val184=) c.1578G>C (p.Val526=) | |
| X | g.67711664G= | CA2435130527 | AR | c.*496G= (n.*496G=) c.2148G= (p.Val716=) c.775G= (n.775G=) c.552G= (p.Val184=) c.1578G= (p.Val526=) | |
| X | g.67711664G>T | CA517048643 | AR | c.*496G>T (n.*496G>T) c.2148G>T (p.Val716=) c.775G>T (n.775G>T) c.552G>T (p.Val184=) c.1578G>T (p.Val526=) | gnomAD v4 |
| X | g.67711665G>A | CA413423518 | AR | c.*497G>A (n.*497G>A) c.2149G>A (p.Val717Ile) c.776G>A (n.776G>A) c.553G>A (p.Val185Ile) c.1579G>A (p.Val527Ile) | dbSNP |
| X | g.67711665G>C | CA413423519 | AR | c.*497G>C (n.*497G>C) c.2149G>C (p.Val717Leu) c.776G>C (n.776G>C) c.553G>C (p.Val185Leu) c.1579G>C (p.Val527Leu) | dbSNP |
| X | g.67711665G>T | CA413423520 | AR | c.*497G>T (n.*497G>T) c.2149G>T (p.Val717Phe) c.776G>T (n.776G>T) c.553G>T (p.Val185Phe) c.1579G>T (p.Val527Phe) | |
| X | g.67711666T>A | CA413423522 | AR | c.*498T>A (n.*498T>A) c.2150T>A (p.Val717Asp) c.777T>A (n.777T>A) c.554T>A (p.Val185Asp) c.1580T>A (p.Val527Asp) | |
| X | g.67711666T>C | CA413423523 | AR | c.*498T>C (n.*498T>C) c.2150T>C (p.Val717Ala) c.777T>C (n.777T>C) c.554T>C (p.Val185Ala) c.1580T>C (p.Val527Ala) | |
| X | g.67711666T>G | CA413423521 | AR | c.*498T>G (n.*498T>G) c.2150T>G (p.Val717Gly) c.777T>G (n.777T>G) c.554T>G (p.Val185Gly) c.1580T>G (p.Val527Gly) | |
| X | g.67711667C>A | CA517048651 | AR | c.*499C>A (n.*499C>A) c.2151C>A (p.Val717=) c.778C>A (n.778C>A) c.555C>A (p.Val185=) c.1581C>A (p.Val527=) | dbSNP gnomAD v4 |
| X | g.67711667C>G | CA517048654 | AR | c.*499C>G (n.*499C>G) c.2151C>G (p.Val717=) c.778C>G (n.778C>G) c.555C>G (p.Val185=) c.1581C>G (p.Val527=) | dbSNP |
| X | g.67711667C>T | CA517048656 | AR | c.*499C>T (n.*499C>T) c.2151C>T (p.Val717=) c.778C>T (n.778C>T) c.555C>T (p.Val185=) c.1581C>T (p.Val527=) | dbSNP |
| X | g.67711668A>C | CA413423526 | AR | c.*500A>C (n.*500A>C) c.2152A>C (p.Lys718Gln) c.779A>C (n.779A>C) c.556A>C (p.Lys186Gln) c.1582A>C (p.Lys528Gln) | |
| X | g.67711668A>G | CA413423524 | AR | c.*500A>G (n.*500A>G) c.2152A>G (p.Lys718Glu) c.779A>G (n.779A>G) c.556A>G (p.Lys186Glu) c.1582A>G (p.Lys528Glu) | |
| X | g.67711668A>T | CA413423525 | AR | c.*500A>T (n.*500A>T) c.2152A>T (p.Lys718Ter) c.779A>T (n.779A>T) c.556A>T (p.Lys186Ter) c.1582A>T (p.Lys528Ter) | dbSNP |
| X | g.67711669A>C | CA413423527 | AR | c.*501A>C (n.*501A>C) c.2153A>C (p.Lys718Thr) c.780A>C (n.780A>C) c.557A>C (p.Lys186Thr) c.1583A>C (p.Lys528Thr) | |
| X | g.67711669A>G | CA413423528 | AR | c.*501A>G (n.*501A>G) c.2153A>G (p.Lys718Arg) c.780A>G (n.780A>G) c.557A>G (p.Lys186Arg) c.1583A>G (p.Lys528Arg) | |
| X | g.67711669A>T | CA413423529 | AR | c.*501A>T (n.*501A>T) c.2153A>T (p.Lys718Met) c.780A>T (n.780A>T) c.557A>T (p.Lys186Met) c.1583A>T (p.Lys528Met) | dbSNP |
| X | g.67711670G>A | CA10436579 | AR | c.*502G>A (n.*502G>A) c.2154G>A (p.Lys718=) c.781G>A (n.781G>A) c.558G>A (p.Lys186=) c.1584G>A (p.Lys528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711670G>C | CA413423530 | AR | c.*502G>C (n.*502G>C) c.2154G>C (p.Lys718Asn) c.781G>C (n.781G>C) c.558G>C (p.Lys186Asn) c.1584G>C (p.Lys528Asn) | dbSNP |
| X | g.67711670G= | CA2435130528 | AR | c.*502G= (n.*502G=) c.2154G= (p.Lys718=) c.781G= (n.781G=) c.558G= (p.Lys186=) c.1584G= (p.Lys528=) | |
| X | g.67711670G>T | CA413423531 | AR | c.*502G>T (n.*502G>T) c.2154G>T (p.Lys718Asn) c.781G>T (n.781G>T) c.558G>T (p.Lys186Asn) c.1584G>T (p.Lys528Asn) | |
| X | g.67711671T>A | CA413423532 | AR | c.*503T>A (n.*503T>A) c.2155T>A (p.Trp719Arg) c.782T>A (n.782T>A) c.559T>A (p.Trp187Arg) c.1585T>A (p.Trp529Arg) | |
| X | g.67711671T>C | CA413423533 | AR | c.*503T>C (n.*503T>C) c.2155T>C (p.Trp719Arg) c.782T>C (n.782T>C) c.559T>C (p.Trp187Arg) c.1585T>C (p.Trp529Arg) | ClinVar dbSNP |
| X | g.67711671T>G | CA413423534 | AR | c.*503T>G (n.*503T>G) c.2155T>G (p.Trp719Gly) c.782T>G (n.782T>G) c.559T>G (p.Trp187Gly) c.1585T>G (p.Trp529Gly) | |
| X | g.67711671T= | CA2435130529 | AR | c.*503T= (n.*503T=) c.2155T= (p.Trp719=) c.782T= (n.782T=) c.559T= (p.Trp187=) c.1585T= (p.Trp529=) | |
| X | g.67711672G>A | CA413423537 | AR | c.*504G>A (n.*504G>A) c.2156G>A (p.Trp719Ter) c.783G>A (n.783G>A) c.560G>A (p.Trp187Ter) c.1586G>A (p.Trp529Ter) | ClinVar dbSNP |
| X | g.67711672G>C | CA413423536 | AR | c.*504G>C (n.*504G>C) c.2156G>C (p.Trp719Ser) c.783G>C (n.783G>C) c.560G>C (p.Trp187Ser) c.1586G>C (p.Trp529Ser) | |
| X | g.67711672G>T | CA413423535 | AR | c.*504G>T (n.*504G>T) c.2156G>T (p.Trp719Leu) c.783G>T (n.783G>T) c.560G>T (p.Trp187Leu) c.1586G>T (p.Trp529Leu) | |
| X | g.67711673G>A | CA120680 | AR | c.*505G>A (n.*505G>A) c.2157G>A (p.Trp719Ter) c.784G>A (n.784G>A) c.561G>A (p.Trp187Ter) c.1587G>A (p.Trp529Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711673G>C | CA413423538 | AR | c.*505G>C (n.*505G>C) c.2157G>C (p.Trp719Cys) c.784G>C (n.784G>C) c.561G>C (p.Trp187Cys) c.1587G>C (p.Trp529Cys) | dbSNP |
| X | g.67711673G= | CA2435130530 | AR | c.*505G= (n.*505G=) c.2157G= (p.Trp719=) c.784G= (n.784G=) c.561G= (p.Trp187=) c.1587G= (p.Trp529=) | |
| X | g.67711673G>T | CA413423539 | AR | c.*505G>T (n.*505G>T) c.2157G>T (p.Trp719Cys) c.784G>T (n.784G>T) c.561G>T (p.Trp187Cys) c.1587G>T (p.Trp529Cys) | dbSNP |
| X | g.67711674G>A | CA413423540 | AR | c.*506G>A (n.*506G>A) c.2158G>A (p.Ala720Thr) c.785G>A (n.785G>A) c.562G>A (p.Ala188Thr) c.1588G>A (p.Ala530Thr) | |
| X | g.67711674G>C | CA413423541 | AR | c.*506G>C (n.*506G>C) c.2158G>C (p.Ala720Pro) c.785G>C (n.785G>C) c.562G>C (p.Ala188Pro) c.1588G>C (p.Ala530Pro) | |
| X | g.67711674G= | CA2435130532 | AR | c.*506G= (n.*506G=) c.2158G= (p.Ala720=) c.785G= (n.785G=) c.562G= (p.Ala188=) c.1588G= (p.Ala530=) | |
| X | g.67711674G>T | CA413423542 | AR | c.*506G>T (n.*506G>T) c.2158G>T (p.Ala720Ser) c.785G>T (n.785G>T) c.562G>T (p.Ala188Ser) c.1588G>T (p.Ala530Ser) | dbSNP |
| X | g.67711674_67711675delinsGC | CA2435130531 | AR | c.*506_*507delinsGC (n.*506_*507delinsGC) c.2158_2159delinsGC (p.Ala720=) c.785_786delinsGC (n.785_786delinsGC) c.562_563delinsGC (p.Ala188=) c.1588_1589delinsGC (p.Ala530=) | |
| X | g.67711675C>A | CA413423543 | AR | c.*507C>A (n.*507C>A) c.2159C>A (p.Ala720Asp) c.786C>A (n.786C>A) c.563C>A (p.Ala188Asp) c.1589C>A (p.Ala530Asp) | dbSNP |
| X | g.67711675C= | CA2435130533 | AR | c.*507C= (n.*507C=) c.2159C= (p.Ala720=) c.786C= (n.786C=) c.563C= (p.Ala188=) c.1589C= (p.Ala530=) | |
| X | g.67711675C>G | CA413423544 | AR | c.*507C>G (n.*507C>G) c.2159C>G (p.Ala720Gly) c.786C>G (n.786C>G) c.563C>G (p.Ala188Gly) c.1589C>G (p.Ala530Gly) | dbSNP |
| X | g.67711675C>T | CA413423545 | AR | c.*507C>T (n.*507C>T) c.2159C>T (p.Ala720Val) c.786C>T (n.786C>T) c.563C>T (p.Ala188Val) c.1589C>T (p.Ala530Val) | ClinVar dbSNP |
| X | g.67711676del | CA915951139 | AR | c.*508del (n.*508del) c.2160del (p.Lys721ArgfsTer?) c.787del (n.787del) c.564del (p.Lys189ArgfsTer?) c.1590del (p.Lys531ArgfsTer?) | ClinVar dbSNP |
| X | g.67711676C>A | CA517048680 | AR | c.*508C>A (n.*508C>A) c.2160C>A (p.Ala720=) c.787C>A (n.787C>A) c.564C>A (p.Ala188=) c.1590C>A (p.Ala530=) | |
| X | g.67711676C>G | CA517048683 | AR | c.*508C>G (n.*508C>G) c.2160C>G (p.Ala720=) c.787C>G (n.787C>G) c.564C>G (p.Ala188=) c.1590C>G (p.Ala530=) | |
| X | g.67711676C>T | CA517048684 | AR | c.*508C>T (n.*508C>T) c.2160C>T (p.Ala720=) c.787C>T (n.787C>T) c.564C>T (p.Ala188=) c.1590C>T (p.Ala530=) | |
| X | g.67711677A>C | CA413423546 | AR | c.*509A>C (n.*509A>C) c.2161A>C (p.Lys721Gln) c.788A>C (n.788A>C) c.565A>C (p.Lys189Gln) c.1591A>C (p.Lys531Gln) | dbSNP |
| X | g.67711677A>G | CA413423547 | AR | c.*509A>G (n.*509A>G) c.2161A>G (p.Lys721Glu) c.788A>G (n.788A>G) c.565A>G (p.Lys189Glu) c.1591A>G (p.Lys531Glu) | |
| X | g.67711677A>T | CA413423548 | AR | c.*509A>T (n.*509A>T) c.2161A>T (p.Lys721Ter) c.788A>T (n.788A>T) c.565A>T (p.Lys189Ter) c.1591A>T (p.Lys531Ter) | dbSNP |
| X | g.67711678dup | CA2580101279 | AR | c.*510dup (n.*510dup) c.2162dup (p.Ala722GlyfsTer?) c.789dup (n.789dup) c.2162dup (p.Ala722GlyfsTer4) c.566dup (p.Ala190GlyfsTer?) c.1592dup (p.Ala532GlyfsTer?) | ClinVar |
| X | g.67711678A>C | CA413423550 | AR | c.*510A>C (n.*510A>C) c.2162A>C (p.Lys721Thr) c.789A>C (n.789A>C) c.566A>C (p.Lys189Thr) c.1592A>C (p.Lys531Thr) | |
| X | g.67711678A>G | CA413423551 | AR | c.*510A>G (n.*510A>G) c.2162A>G (p.Lys721Arg) c.789A>G (n.789A>G) c.566A>G (p.Lys189Arg) c.1592A>G (p.Lys531Arg) | dbSNP |
| X | g.67711678A>T | CA413423549 | AR | c.*510A>T (n.*510A>T) c.2162A>T (p.Lys721Met) c.789A>T (n.789A>T) c.566A>T (p.Lys189Met) c.1592A>T (p.Lys531Met) | |
| X | g.67711679G>A | CA517048696 | AR | c.*511G>A (n.*511G>A) c.2163G>A (p.Lys721=) c.790G>A (n.790G>A) c.567G>A (p.Lys189=) c.1593G>A (p.Lys531=) | dbSNP |
| X | g.67711679G>C | CA413423552 | AR | c.*511G>C (n.*511G>C) c.2163G>C (p.Lys721Asn) c.790G>C (n.790G>C) c.567G>C (p.Lys189Asn) c.1593G>C (p.Lys531Asn) | dbSNP |
| X | g.67711679G>T | CA413423553 | AR | c.*511G>T (n.*511G>T) c.2163G>T (p.Lys721Asn) c.790G>T (n.790G>T) c.567G>T (p.Lys189Asn) c.1593G>T (p.Lys531Asn) | |
| X | g.67711680del | CA2695234367 | AR | c.*512del (n.*512del) c.2164del (p.Ala722ProfsTer?) c.791del (n.791del) c.568del (p.Ala190ProfsTer?) c.1594del (p.Ala532ProfsTer?) | |
| X | g.67711680G>A | CA120752 | AR | c.*512G>A (n.*512G>A) c.2164G>A (p.Ala722Thr) c.791G>A (n.791G>A) c.568G>A (p.Ala190Thr) c.1594G>A (p.Ala532Thr) | ClinVar dbSNP COSMIC |
| X | g.67711680G>C | CA413423554 | AR | c.*512G>C (n.*512G>C) c.2164G>C (p.Ala722Pro) c.791G>C (n.791G>C) c.568G>C (p.Ala190Pro) c.1594G>C (p.Ala532Pro) | dbSNP |
| X | g.67711680G= | CA2435130534 | AR | c.*512G= (n.*512G=) c.2164G= (p.Ala722=) c.791G= (n.791G=) c.568G= (p.Ala190=) c.1594G= (p.Ala532=) | |
| X | g.67711680G>T | CA413423555 | AR | c.*512G>T (n.*512G>T) c.2164G>T (p.Ala722Ser) c.791G>T (n.791G>T) c.568G>T (p.Ala190Ser) c.1594G>T (p.Ala532Ser) | |
| X | g.67711681C>A | CA413423556 | AR | c.*513C>A (n.*513C>A) c.2165C>A (p.Ala722Asp) c.792C>A (n.792C>A) c.569C>A (p.Ala190Asp) c.1595C>A (p.Ala532Asp) | dbSNP |
| X | g.67711681C= | CA2435130535 | AR | c.*513C= (n.*513C=) c.2165C= (p.Ala722=) c.792C= (n.792C=) c.569C= (p.Ala190=) c.1595C= (p.Ala532=) | |
| X | g.67711681C>G | CA413423557 | AR | c.*513C>G (n.*513C>G) c.2165C>G (p.Ala722Gly) c.792C>G (n.792C>G) c.569C>G (p.Ala190Gly) c.1595C>G (p.Ala532Gly) | dbSNP |
| X | g.67711681C>T | CA10436580 | AR | c.*513C>T (n.*513C>T) c.2165C>T (p.Ala722Val) c.792C>T (n.792C>T) c.569C>T (p.Ala190Val) c.1595C>T (p.Ala532Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711682C>A | CA517048702 | AR | c.*514C>A (n.*514C>A) c.2166C>A (p.Ala722=) c.793C>A (n.793C>A) c.570C>A (p.Ala190=) c.1596C>A (p.Ala532=) | dbSNP |
| X | g.67711682C>G | CA517048705 | AR | c.*514C>G (n.*514C>G) c.2166C>G (p.Ala722=) c.793C>G (n.793C>G) c.570C>G (p.Ala190=) c.1596C>G (p.Ala532=) | dbSNP |
| X | g.67711682C>T | CA517048706 | AR | c.*514C>T (n.*514C>T) c.2166C>T (p.Ala722=) c.793C>T (n.793C>T) c.570C>T (p.Ala190=) c.1596C>T (p.Ala532=) | dbSNP |
| X | g.67711682_67711684del | CA2695234368 | AR | c.*514_*516del (n.*514_*516del) c.2166_2168del (p.Leu723del) c.793_795del (n.793_795del) c.570_572del (p.Leu191del) c.1596_1598del (p.Leu533del) | |
| X | g.67711683T>A | CA413423558 | AR | c.*515T>A (n.*515T>A) c.2167T>A (p.Leu723Met) c.794T>A (n.794T>A) c.571T>A (p.Leu191Met) c.1597T>A (p.Leu533Met) | dbSNP gnomAD v4 |
| X | g.67711683T>C | CA517048712 | AR | c.*515T>C (n.*515T>C) c.2167T>C (p.Leu723=) c.794T>C (n.794T>C) c.571T>C (p.Leu191=) c.1597T>C (p.Leu533=) | |
| X | g.67711683T>G | CA413423559 | AR | c.*515T>G (n.*515T>G) c.2167T>G (p.Leu723Val) c.794T>G (n.794T>G) c.571T>G (p.Leu191Val) c.1597T>G (p.Leu533Val) | dbSNP |
| X | g.67711684T>A | CA413423560 | AR | c.*516T>A (n.*516T>A) c.2168T>A (p.Leu723Ter) c.795T>A (n.795T>A) c.572T>A (p.Leu191Ter) c.1598T>A (p.Leu533Ter) | |
| X | g.67711684T>C | CA413423561 | AR | c.*516T>C (n.*516T>C) c.2168T>C (p.Leu723Ser) c.795T>C (n.795T>C) c.572T>C (p.Leu191Ser) c.1598T>C (p.Leu533Ser) | |
| X | g.67711684T>G | CA413423562 | AR | c.*516T>G (n.*516T>G) c.2168T>G (p.Leu723Trp) c.795T>G (n.795T>G) c.572T>G (p.Leu191Trp) c.1598T>G (p.Leu533Trp) | |
| X | g.67711685G>A | CA517048713 | AR | c.*517G>A (n.*517G>A) c.2169G>A (p.Leu723=) c.796G>A (n.796G>A) c.573G>A (p.Leu191=) c.1599G>A (p.Leu533=) | dbSNP |
| X | g.67711685G>C | CA413423564 | AR | c.*517G>C (n.*517G>C) c.2169G>C (p.Leu723Phe) c.796G>C (n.796G>C) c.573G>C (p.Leu191Phe) c.1599G>C (p.Leu533Phe) | dbSNP |
| X | g.67711685G>T | CA413423563 | AR | c.*517G>T (n.*517G>T) c.2169G>T (p.Leu723Phe) c.796G>T (n.796G>T) c.573G>T (p.Leu191Phe) c.1599G>T (p.Leu533Phe) | ClinVar COSMIC |
| X | g.67711686C>A | CA413423565 | AR | c.*518C>A (n.*518C>A) c.2170C>A (p.Pro724Thr) c.797C>A (n.797C>A) c.574C>A (p.Pro192Thr) c.1600C>A (p.Pro534Thr) | dbSNP COSMIC |
| X | g.67711686C>G | CA413423566 | AR | c.*518C>G (n.*518C>G) c.2170C>G (p.Pro724Ala) c.797C>G (n.797C>G) c.574C>G (p.Pro192Ala) c.1600C>G (p.Pro534Ala) | dbSNP |
| X | g.67711686C>T | CA413423567 | AR | c.*518C>T (n.*518C>T) c.2170C>T (p.Pro724Ser) c.797C>T (n.797C>T) c.574C>T (p.Pro192Ser) c.1600C>T (p.Pro534Ser) | ClinVar dbSNP |