Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.29672552G>ACA363042914ZFP57c.1559C>T (p.Ala520Val)
c.1343C>T (p.Ala448Val)
c.1307C>T (p.Ala436Val)
c.1499C>T (p.Ala500Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.29672552G>CCA363042915ZFP57c.1559C>G (p.Ala520Gly)
c.1343C>G (p.Ala448Gly)
c.1307C>G (p.Ala436Gly)
c.1499C>G (p.Ala500Gly)
6g.29672552G=CA1618398781ZFP57c.1559C= (p.Ala520=)
c.1343C= (p.Ala448=)
c.1307C= (p.Ala436=)
c.1499C= (p.Ala500=)
6g.29672552G>TCA363042916ZFP57c.1559C>A (p.Ala520Asp)
c.1343C>A (p.Ala448Asp)
c.1307C>A (p.Ala436Asp)
c.1499C>A (p.Ala500Asp)
6g.29672553C>ACA363042919ZFP57c.1558G>T (p.Ala520Ser)
c.1342G>T (p.Ala448Ser)
c.1306G>T (p.Ala436Ser)
c.1498G>T (p.Ala500Ser)
6g.29672553C=CA1618398782ZFP57c.1558G= (p.Ala520=)
c.1342G= (p.Ala448=)
c.1306G= (p.Ala436=)
c.1498G= (p.Ala500=)
6g.29672553C>GCA363042918ZFP57c.1558G>C (p.Ala520Pro)
c.1342G>C (p.Ala448Pro)
c.1306G>C (p.Ala436Pro)
c.1498G>C (p.Ala500Pro)
6g.29672553C>TCA363042917ZFP57c.1558G>A (p.Ala520Thr)
c.1342G>A (p.Ala448Thr)
c.1306G>A (p.Ala436Thr)
c.1498G>A (p.Ala500Thr)
dbSNP gnomAD v2 gnomAD v4
6g.29672554C>ACA363042920ZFP57c.1557G>T (p.Lys519Asn)
c.1341G>T (p.Lys447Asn)
c.1305G>T (p.Lys435Asn)
c.1497G>T (p.Lys499Asn)
6g.29672554C>GCA363042921ZFP57c.1557G>C (p.Lys519Asn)
c.1341G>C (p.Lys447Asn)
c.1305G>C (p.Lys435Asn)
c.1497G>C (p.Lys499Asn)
6g.29672554C>TCA449458150ZFP57c.1557G>A (p.Lys519=)
c.1341G>A (p.Lys447=)
c.1305G>A (p.Lys435=)
c.1497G>A (p.Lys499=)
6g.29672555T>ACA363042922ZFP57c.1556A>T (p.Lys519Met)
c.1340A>T (p.Lys447Met)
c.1304A>T (p.Lys435Met)
c.1496A>T (p.Lys499Met)
6g.29672555T>CCA363042923ZFP57c.1556A>G (p.Lys519Arg)
c.1340A>G (p.Lys447Arg)
c.1304A>G (p.Lys435Arg)
c.1496A>G (p.Lys499Arg)
6g.29672555T>GCA363042924ZFP57c.1556A>C (p.Lys519Thr)
c.1340A>C (p.Lys447Thr)
c.1304A>C (p.Lys435Thr)
c.1496A>C (p.Lys499Thr)
6g.29672556T>ACA363042925ZFP57c.1555A>T (p.Lys519Ter)
c.1339A>T (p.Lys447Ter)
c.1303A>T (p.Lys435Ter)
c.1495A>T (p.Lys499Ter)
6g.29672556T>CCA363042926ZFP57c.1555A>G (p.Lys519Glu)
c.1339A>G (p.Lys447Glu)
c.1303A>G (p.Lys435Glu)
c.1495A>G (p.Lys499Glu)
6g.29672556T>GCA363042927ZFP57c.1555A>C (p.Lys519Gln)
c.1339A>C (p.Lys447Gln)
c.1303A>C (p.Lys435Gln)
c.1495A>C (p.Lys499Gln)
6g.29672557C>ACA363042928ZFP57c.1554G>T (p.Glu518Asp)
c.1338G>T (p.Glu446Asp)
c.1302G>T (p.Glu434Asp)
c.1494G>T (p.Glu498Asp)
6g.29672557C>GCA363042929ZFP57c.1554G>C (p.Glu518Asp)
c.1338G>C (p.Glu446Asp)
c.1302G>C (p.Glu434Asp)
c.1494G>C (p.Glu498Asp)
6g.29672557C>TCA449458153ZFP57c.1554G>A (p.Glu518=)
c.1338G>A (p.Glu446=)
c.1302G>A (p.Glu434=)
c.1494G>A (p.Glu498=)
6g.29672558T>ACA3690657ZFP57c.1553A>T (p.Glu518Val)
c.1337A>T (p.Glu446Val)
c.1301A>T (p.Glu434Val)
c.1493A>T (p.Glu498Val)
dbSNP ExAC
6g.29672558T>CCA363042930ZFP57c.1553A>G (p.Glu518Gly)
c.1337A>G (p.Glu446Gly)
c.1301A>G (p.Glu434Gly)
c.1493A>G (p.Glu498Gly)
6g.29672558T>GCA363042931ZFP57c.1553A>C (p.Glu518Ala)
c.1337A>C (p.Glu446Ala)
c.1301A>C (p.Glu434Ala)
c.1493A>C (p.Glu498Ala)
6g.29672558T=CA1618398783ZFP57c.1553A= (p.Glu518=)
c.1337A= (p.Glu446=)
c.1301A= (p.Glu434=)
c.1493A= (p.Glu498=)
6g.29672559C>ACA363042934ZFP57c.1552G>T (p.Glu518Ter)
c.1336G>T (p.Glu446Ter)
c.1300G>T (p.Glu434Ter)
c.1492G>T (p.Glu498Ter)
gnomAD v4 COSMIC
6g.29672559C>GCA363042932ZFP57c.1552G>C (p.Glu518Gln)
c.1336G>C (p.Glu446Gln)
c.1300G>C (p.Glu434Gln)
c.1492G>C (p.Glu498Gln)
6g.29672559C>TCA363042933ZFP57c.1552G>A (p.Glu518Lys)
c.1336G>A (p.Glu446Lys)
c.1300G>A (p.Glu434Lys)
c.1492G>A (p.Glu498Lys)
6g.29672560T>ACA363042935ZFP57c.1551A>T (p.Arg517Ser)
c.1335A>T (p.Arg445Ser)
c.1299A>T (p.Arg433Ser)
c.1491A>T (p.Arg497Ser)
6g.29672560T>CCA449458157ZFP57c.1551A>G (p.Arg517=)
c.1335A>G (p.Arg445=)
c.1299A>G (p.Arg433=)
c.1491A>G (p.Arg497=)
6g.29672560T>GCA363042936ZFP57c.1551A>C (p.Arg517Ser)
c.1335A>C (p.Arg445Ser)
c.1299A>C (p.Arg433Ser)
c.1491A>C (p.Arg497Ser)
6g.29672561C>ACA363042937ZFP57c.1550G>T (p.Arg517Ile)
c.1334G>T (p.Arg445Ile)
c.1298G>T (p.Arg433Ile)
c.1490G>T (p.Arg497Ile)
6g.29672561C=CA1618398785ZFP57c.1550G= (p.Arg517=)
c.1334G= (p.Arg445=)
c.1298G= (p.Arg433=)
c.1490G= (p.Arg497=)
6g.29672561C>GCA363042938ZFP57c.1550G>C (p.Arg517Thr)
c.1334G>C (p.Arg445Thr)
c.1298G>C (p.Arg433Thr)
c.1490G>C (p.Arg497Thr)
ClinVar
6g.29672561C>TCA3690658ZFP57c.1550G>A (p.Arg517Lys)
c.1334G>A (p.Arg445Lys)
c.1298G>A (p.Arg433Lys)
c.1490G>A (p.Arg497Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672561_29672563delinsCTTCA1618398784ZFP57c.1548_1550delinsAAG (p.Leu516=)
c.1332_1334delinsAAG (p.Leu444=)
c.1296_1298delinsAAG (p.Leu432=)
c.1488_1490delinsAAG (p.Leu496=)
6g.29672562T>ACA363042939ZFP57c.1549A>T (p.Arg517Ter)
c.1333A>T (p.Arg445Ter)
c.1297A>T (p.Arg433Ter)
c.1489A>T (p.Arg497Ter)
6g.29672562T>CCA363042940ZFP57c.1549A>G (p.Arg517Gly)
c.1333A>G (p.Arg445Gly)
c.1297A>G (p.Arg433Gly)
c.1489A>G (p.Arg497Gly)
dbSNP
6g.29672562T>GCA449458162ZFP57c.1549A>C (p.Arg517=)
c.1333A>C (p.Arg445=)
c.1297A>C (p.Arg433=)
c.1489A>C (p.Arg497=)
6g.29672562T=CA1618398787ZFP57c.1549A= (p.Arg517=)
c.1333A= (p.Arg445=)
c.1297A= (p.Arg433=)
c.1489A= (p.Arg497=)
6g.29672562_29672563delCA1618398786ZFP57c.1548_1549del (p.Lys519GlyfsTer17)
c.1332_1333del (p.Lys447GlyfsTer17)
c.1296_1297del (p.Lys435GlyfsTer17)
c.1488_1489del (p.Lys499GlyfsTer17)
dbSNP gnomAD v4
6g.29672563T>ACA449458163ZFP57c.1548A>T (p.Leu516=)
c.1332A>T (p.Leu444=)
c.1296A>T (p.Leu432=)
c.1488A>T (p.Leu496=)
6g.29672563T>CCA449458164ZFP57c.1548A>G (p.Leu516=)
c.1332A>G (p.Leu444=)
c.1296A>G (p.Leu432=)
c.1488A>G (p.Leu496=)
dbSNP gnomAD v3 gnomAD v4
6g.29672563T>GCA449458165ZFP57c.1548A>C (p.Leu516=)
c.1332A>C (p.Leu444=)
c.1296A>C (p.Leu432=)
c.1488A>C (p.Leu496=)
6g.29672563T=CA1618398788ZFP57c.1548A= (p.Leu516=)
c.1332A= (p.Leu444=)
c.1296A= (p.Leu432=)
c.1488A= (p.Leu496=)
6g.29672564A>CCA363042941ZFP57c.1547T>G (p.Leu516Arg)
c.1331T>G (p.Leu444Arg)
c.1295T>G (p.Leu432Arg)
c.1487T>G (p.Leu496Arg)
6g.29672564A>GCA363042942ZFP57c.1547T>C (p.Leu516Pro)
c.1331T>C (p.Leu444Pro)
c.1295T>C (p.Leu432Pro)
c.1487T>C (p.Leu496Pro)
6g.29672564A>TCA363042943ZFP57c.1547T>A (p.Leu516Gln)
c.1331T>A (p.Leu444Gln)
c.1295T>A (p.Leu432Gln)
c.1487T>A (p.Leu496Gln)
6g.29672564_29672565delinsAGCA1618398789ZFP57c.1546_1547delinsCT (p.Leu516=)
c.1330_1331delinsCT (p.Leu444=)
c.1294_1295delinsCT (p.Leu432=)
c.1486_1487delinsCT (p.Leu496=)
6g.29672565G>ACA449458168ZFP57c.1546C>T (p.Leu516=)
c.1330C>T (p.Leu444=)
c.1294C>T (p.Leu432=)
c.1486C>T (p.Leu496=)
6g.29672565G>CCA363042944ZFP57c.1546C>G (p.Leu516Val)
c.1330C>G (p.Leu444Val)
c.1294C>G (p.Leu432Val)
c.1486C>G (p.Leu496Val)
COSMIC
6g.29672565G>TCA363042945ZFP57c.1546C>A (p.Leu516Ile)
c.1330C>A (p.Leu444Ile)
c.1294C>A (p.Leu432Ile)
c.1486C>A (p.Leu496Ile)
6g.29672566delCA3690659ZFP57c.1546del (p.Leu516Ter)
c.1330del (p.Leu444Ter)
c.1294del (p.Leu432Ter)
c.1486del (p.Leu496Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672566G>ACA449458172ZFP57c.1545C>T (p.Gly515=)
c.1329C>T (p.Gly443=)
c.1293C>T (p.Gly431=)
c.1485C>T (p.Gly495=)
dbSNP
6g.29672566G>CCA208816ZFP57c.1545C>G (p.Gly515=)
c.1329C>G (p.Gly443=)
c.1293C>G (p.Gly431=)
c.1485C>G (p.Gly495=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.29672566G=CA1618398790ZFP57c.1545C= (p.Gly515=)
c.1329C= (p.Gly443=)
c.1293C= (p.Gly431=)
c.1485C= (p.Gly495=)
6g.29672566G>TCA449458173ZFP57c.1545C>A (p.Gly515=)
c.1329C>A (p.Gly443=)
c.1293C>A (p.Gly431=)
c.1485C>A (p.Gly495=)
6g.29672567C>ACA363042947ZFP57c.1544G>T (p.Gly515Val)
c.1328G>T (p.Gly443Val)
c.1292G>T (p.Gly431Val)
c.1484G>T (p.Gly495Val)
6g.29672567C=CA1618398791ZFP57c.1544G= (p.Gly515=)
c.1328G= (p.Gly443=)
c.1292G= (p.Gly431=)
c.1484G= (p.Gly495=)
6g.29672567C>GCA363042946ZFP57c.1544G>C (p.Gly515Ala)
c.1328G>C (p.Gly443Ala)
c.1292G>C (p.Gly431Ala)
c.1484G>C (p.Gly495Ala)
6g.29672567C>TCA3690660ZFP57c.1544G>A (p.Gly515Asp)
c.1328G>A (p.Gly443Asp)
c.1292G>A (p.Gly431Asp)
c.1484G>A (p.Gly495Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672568C>ACA363042948ZFP57c.1543G>T (p.Gly515Cys)
c.1327G>T (p.Gly443Cys)
c.1291G>T (p.Gly431Cys)
c.1483G>T (p.Gly495Cys)
6g.29672568C=CA1618398792ZFP57c.1543G= (p.Gly515=)
c.1327G= (p.Gly443=)
c.1291G= (p.Gly431=)
c.1483G= (p.Gly495=)
6g.29672568C>GCA363042949ZFP57c.1543G>C (p.Gly515Arg)
c.1327G>C (p.Gly443Arg)
c.1291G>C (p.Gly431Arg)
c.1483G>C (p.Gly495Arg)
dbSNP
6g.29672568C>TCA363042950ZFP57c.1543G>A (p.Gly515Ser)
c.1327G>A (p.Gly443Ser)
c.1291G>A (p.Gly431Ser)
c.1483G>A (p.Gly495Ser)
6g.29672570_29672571delCA2677767652ZFP57c.1542_1543del (p.Gly515ProfsTer21)
c.1326_1327del (p.Gly443ProfsTer21)
c.1290_1291del (p.Gly431ProfsTer21)
c.1482_1483del (p.Gly495ProfsTer21)
gnomAD v4
6g.29672569T>ACA363042951ZFP57c.1542A>T (p.Arg514Ser)
c.1326A>T (p.Arg442Ser)
c.1290A>T (p.Arg430Ser)
c.1482A>T (p.Arg494Ser)
6g.29672569T>CCA449458179ZFP57c.1542A>G (p.Arg514=)
c.1326A>G (p.Arg442=)
c.1290A>G (p.Arg430=)
c.1482A>G (p.Arg494=)
6g.29672569T>GCA363042952ZFP57c.1542A>C (p.Arg514Ser)
c.1326A>C (p.Arg442Ser)
c.1290A>C (p.Arg430Ser)
c.1482A>C (p.Arg494Ser)
6g.29672570C>ACA363042953ZFP57c.1541G>T (p.Arg514Ile)
c.1325G>T (p.Arg442Ile)
c.1289G>T (p.Arg430Ile)
c.1481G>T (p.Arg494Ile)
6g.29672570C>GCA363042954ZFP57c.1541G>C (p.Arg514Thr)
c.1325G>C (p.Arg442Thr)
c.1289G>C (p.Arg430Thr)
c.1481G>C (p.Arg494Thr)
6g.29672570C>TCA363042955ZFP57c.1541G>A (p.Arg514Lys)
c.1325G>A (p.Arg442Lys)
c.1289G>A (p.Arg430Lys)
c.1481G>A (p.Arg494Lys)
6g.29672571T>ACA363042956ZFP57c.1540A>T (p.Arg514Ter)
c.1324A>T (p.Arg442Ter)
c.1288A>T (p.Arg430Ter)
c.1480A>T (p.Arg494Ter)
6g.29672571T>CCA363042957ZFP57c.1540A>G (p.Arg514Gly)
c.1324A>G (p.Arg442Gly)
c.1288A>G (p.Arg430Gly)
c.1480A>G (p.Arg494Gly)
6g.29672571T>GCA449458185ZFP57c.1540A>C (p.Arg514=)
c.1324A>C (p.Arg442=)
c.1288A>C (p.Arg430=)
c.1480A>C (p.Arg494=)
6g.29672572T>ACA363042958ZFP57c.1539A>T (p.Arg513Ser)
c.1323A>T (p.Arg441Ser)
c.1287A>T (p.Arg429Ser)
c.1479A>T (p.Arg493Ser)
6g.29672572T>CCA135974314ZFP57c.1539A>G (p.Arg513=)
c.1323A>G (p.Arg441=)
c.1287A>G (p.Arg429=)
c.1479A>G (p.Arg493=)
dbSNP
6g.29672572T>GCA363042959ZFP57c.1539A>C (p.Arg513Ser)
c.1323A>C (p.Arg441Ser)
c.1287A>C (p.Arg429Ser)
c.1479A>C (p.Arg493Ser)
6g.29672572T=CA1618398793ZFP57c.1539A= (p.Arg513=)
c.1323A= (p.Arg441=)
c.1287A= (p.Arg429=)
c.1479A= (p.Arg493=)
6g.29672573C>ACA363042960ZFP57c.1538G>T (p.Arg513Ile)
c.1322G>T (p.Arg441Ile)
c.1286G>T (p.Arg429Ile)
c.1478G>T (p.Arg493Ile)
6g.29672573C=CA1618398795ZFP57c.1538G= (p.Arg513=)
c.1322G= (p.Arg441=)
c.1286G= (p.Arg429=)
c.1478G= (p.Arg493=)
6g.29672573C>GCA363042961ZFP57c.1538G>C (p.Arg513Thr)
c.1322G>C (p.Arg441Thr)
c.1286G>C (p.Arg429Thr)
c.1478G>C (p.Arg493Thr)
6g.29672573C>TCA363042962ZFP57c.1538G>A (p.Arg513Lys)
c.1322G>A (p.Arg441Lys)
c.1286G>A (p.Arg429Lys)
c.1478G>A (p.Arg493Lys)
dbSNP gnomAD v4 COSMIC
6g.29672573_29672588delinsCTCCTGGGGGTATGGACA1618398794ZFP57c.1523_1538delinsTCCATACCCCCAGGAG (p.Ile508=)
c.1307_1322delinsTCCATACCCCCAGGAG (p.Ile436=)
c.1271_1286delinsTCCATACCCCCAGGAG (p.Ile424=)
c.1463_1478delinsTCCATACCCCCAGGAG (p.Ile488=)
6g.29672574T>ACA363042963ZFP57c.1537A>T (p.Arg513Ter)
c.1321A>T (p.Arg441Ter)
c.1285A>T (p.Arg429Ter)
c.1477A>T (p.Arg493Ter)
6g.29672574T>CCA363042964ZFP57c.1537A>G (p.Arg513Gly)
c.1321A>G (p.Arg441Gly)
c.1285A>G (p.Arg429Gly)
c.1477A>G (p.Arg493Gly)
6g.29672574T>GCA449458188ZFP57c.1537A>C (p.Arg513=)
c.1321A>C (p.Arg441=)
c.1285A>C (p.Arg429=)
c.1477A>C (p.Arg493=)
6g.29672583_29672597dupCA1618398796ZFP57c.1523_1537dup (p.Arg512_Arg513insIleHisThrProArg)
c.1307_1321dup (p.Arg440_Arg441insIleHisThrProArg)
c.1271_1285dup (p.Arg428_Arg429insIleHisThrProArg)
c.1463_1477dup (p.Arg492_Arg493insIleHisThrProArg)
dbSNP
6g.29672583_29672597delCA3690661ZFP57c.1523_1537del (p.Ile508_Arg512del)
c.1307_1321del (p.Ile436_Arg440del)
c.1271_1285del (p.Ile424_Arg428del)
c.1463_1477del (p.Ile488_Arg492del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672575C>ACA363042965ZFP57c.1536G>T (p.Arg512Ser)
c.1320G>T (p.Arg440Ser)
c.1284G>T (p.Arg428Ser)
c.1476G>T (p.Arg492Ser)
6g.29672575C>GCA363042966ZFP57c.1536G>C (p.Arg512Ser)
c.1320G>C (p.Arg440Ser)
c.1284G>C (p.Arg428Ser)
c.1476G>C (p.Arg492Ser)
6g.29672575C>TCA449458193ZFP57c.1536G>A (p.Arg512=)
c.1320G>A (p.Arg440=)
c.1284G>A (p.Arg428=)
c.1476G>A (p.Arg492=)
6g.29672575_29672576insTCA2677767653ZFP57c.1535_1536insA (p.Arg513GlufsTer24)
c.1319_1320insA (p.Arg441GlufsTer24)
c.1283_1284insA (p.Arg429GlufsTer24)
c.1475_1476insA (p.Arg493GlufsTer24)
gnomAD v4
6g.29672576C>ACA363042967ZFP57c.1535G>T (p.Arg512Met)
c.1319G>T (p.Arg440Met)
c.1283G>T (p.Arg428Met)
c.1475G>T (p.Arg492Met)
6g.29672576C=CA1618398797ZFP57c.1535G= (p.Arg512=)
c.1319G= (p.Arg440=)
c.1283G= (p.Arg428=)
c.1475G= (p.Arg492=)
6g.29672576C>GCA363042968ZFP57c.1535G>C (p.Arg512Thr)
c.1319G>C (p.Arg440Thr)
c.1283G>C (p.Arg428Thr)
c.1475G>C (p.Arg492Thr)
6g.29672576C>TCA135974316ZFP57c.1535G>A (p.Arg512Lys)
c.1319G>A (p.Arg440Lys)
c.1283G>A (p.Arg428Lys)
c.1475G>A (p.Arg492Lys)
dbSNP COSMIC
6g.29672577T>ACA363042969ZFP57c.1534A>T (p.Arg512Trp)
c.1318A>T (p.Arg440Trp)
c.1282A>T (p.Arg428Trp)
c.1474A>T (p.Arg492Trp)
6g.29672577T>CCA363042970ZFP57c.1534A>G (p.Arg512Gly)
c.1318A>G (p.Arg440Gly)
c.1282A>G (p.Arg428Gly)
c.1474A>G (p.Arg492Gly)
6g.29672577T>GCA449458197ZFP57c.1534A>C (p.Arg512=)
c.1318A>C (p.Arg440=)
c.1282A>C (p.Arg428=)
c.1474A>C (p.Arg492=)
6g.29672577T=CA1618398798ZFP57c.1534A= (p.Arg512=)
c.1318A= (p.Arg440=)
c.1282A= (p.Arg428=)
c.1474A= (p.Arg492=)
6g.29672577_29672578insTACA2677767654ZFP57c.1533_1534insTA (p.Arg512Ter)
c.1317_1318insTA (p.Arg440Ter)
c.1281_1282insTA (p.Arg428Ter)
c.1473_1474insTA (p.Arg492Ter)
gnomAD v4
6g.29672578G>ACA3690663ZFP57c.1533C>T (p.Pro511=)
c.1317C>T (p.Pro439=)
c.1281C>T (p.Pro427=)
c.1473C>T (p.Pro491=)
dbSNP ExAC gnomAD v4
6g.29672578G>CCA449458198ZFP57c.1533C>G (p.Pro511=)
c.1317C>G (p.Pro439=)
c.1281C>G (p.Pro427=)
c.1473C>G (p.Pro491=)
6g.29672578G=CA1618398799ZFP57c.1533C= (p.Pro511=)
c.1317C= (p.Pro439=)
c.1281C= (p.Pro427=)
c.1473C= (p.Pro491=)
6g.29672578G>TCA449458199ZFP57c.1533C>A (p.Pro511=)
c.1317C>A (p.Pro439=)
c.1281C>A (p.Pro427=)
c.1473C>A (p.Pro491=)
dbSNP gnomAD v2
6g.29672582dupCA3690662ZFP57c.1533dup (p.Arg512GlnfsTer25)
c.1317dup (p.Arg440GlnfsTer25)
c.1281dup (p.Arg428GlnfsTer25)
c.1473dup (p.Arg492GlnfsTer25)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672582delCA2677767655ZFP57c.1533del (p.Arg512GlyfsTer5)
c.1317del (p.Arg440GlyfsTer5)
c.1281del (p.Arg428GlyfsTer5)
c.1473del (p.Arg492GlyfsTer5)
gnomAD v4
6g.29672579G>ACA3690664ZFP57c.1532C>T (p.Pro511Leu)
c.1316C>T (p.Pro439Leu)
c.1280C>T (p.Pro427Leu)
c.1472C>T (p.Pro491Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672579G>CCA363042971ZFP57c.1532C>G (p.Pro511Arg)
c.1316C>G (p.Pro439Arg)
c.1280C>G (p.Pro427Arg)
c.1472C>G (p.Pro491Arg)
6g.29672579G=CA1618398800ZFP57c.1532C= (p.Pro511=)
c.1316C= (p.Pro439=)
c.1280C= (p.Pro427=)
c.1472C= (p.Pro491=)
6g.29672579G>TCA363042972ZFP57c.1532C>A (p.Pro511His)
c.1316C>A (p.Pro439His)
c.1280C>A (p.Pro427His)
c.1472C>A (p.Pro491His)
dbSNP
6g.29672580G>ACA363042973ZFP57c.1531C>T (p.Pro511Ser)
c.1315C>T (p.Pro439Ser)
c.1279C>T (p.Pro427Ser)
c.1471C>T (p.Pro491Ser)
COSMIC
6g.29672580G>CCA3690665ZFP57c.1531C>G (p.Pro511Ala)
c.1315C>G (p.Pro439Ala)
c.1279C>G (p.Pro427Ala)
c.1471C>G (p.Pro491Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672580G=CA1618398801ZFP57c.1531C= (p.Pro511=)
c.1315C= (p.Pro439=)
c.1279C= (p.Pro427=)
c.1471C= (p.Pro491=)
6g.29672580G>TCA363042974ZFP57c.1531C>A (p.Pro511Thr)
c.1315C>A (p.Pro439Thr)
c.1279C>A (p.Pro427Thr)
c.1471C>A (p.Pro491Thr)
6g.29672581G>ACA449458201ZFP57c.1530C>T (p.Thr510=)
c.1314C>T (p.Thr438=)
c.1278C>T (p.Thr426=)
c.1470C>T (p.Thr490=)
dbSNP
6g.29672581G>CCA449458202ZFP57c.1530C>G (p.Thr510=)
c.1314C>G (p.Thr438=)
c.1278C>G (p.Thr426=)
c.1470C>G (p.Thr490=)
6g.29672581G=CA1618398802ZFP57c.1530C= (p.Thr510=)
c.1314C= (p.Thr438=)
c.1278C= (p.Thr426=)
c.1470C= (p.Thr490=)
6g.29672581G>TCA3690666ZFP57c.1530C>A (p.Thr510=)
c.1314C>A (p.Thr438=)
c.1278C>A (p.Thr426=)
c.1470C>A (p.Thr490=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672582G>ACA363042975ZFP57c.1529C>T (p.Thr510Ile)
c.1313C>T (p.Thr438Ile)
c.1277C>T (p.Thr426Ile)
c.1469C>T (p.Thr490Ile)
dbSNP gnomAD v4
6g.29672582G>CCA363042976ZFP57c.1529C>G (p.Thr510Ser)
c.1313C>G (p.Thr438Ser)
c.1277C>G (p.Thr426Ser)
c.1469C>G (p.Thr490Ser)
6g.29672582G=CA1618398803ZFP57c.1529C= (p.Thr510=)
c.1313C= (p.Thr438=)
c.1277C= (p.Thr426=)
c.1469C= (p.Thr490=)
6g.29672582G>TCA3690667ZFP57c.1529C>A (p.Thr510Asn)
c.1313C>A (p.Thr438Asn)
c.1277C>A (p.Thr426Asn)
c.1469C>A (p.Thr490Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672583T>ACA363042977ZFP57c.1528A>T (p.Thr510Ser)
c.1312A>T (p.Thr438Ser)
c.1276A>T (p.Thr426Ser)
c.1468A>T (p.Thr490Ser)
6g.29672583T>CCA363042978ZFP57c.1528A>G (p.Thr510Ala)
c.1312A>G (p.Thr438Ala)
c.1276A>G (p.Thr426Ala)
c.1468A>G (p.Thr490Ala)
6g.29672583T>GCA363042979ZFP57c.1528A>C (p.Thr510Pro)
c.1312A>C (p.Thr438Pro)
c.1276A>C (p.Thr426Pro)
c.1468A>C (p.Thr490Pro)
6g.29672584A>CCA363042980ZFP57c.1527T>G (p.His509Gln)
c.1311T>G (p.His437Gln)
c.1275T>G (p.His425Gln)
c.1467T>G (p.His489Gln)
6g.29672584A>GCA449458207ZFP57c.1527T>C (p.His509=)
c.1311T>C (p.His437=)
c.1275T>C (p.His425=)
c.1467T>C (p.His489=)
6g.29672584A>TCA363042981ZFP57c.1527T>A (p.His509Gln)
c.1311T>A (p.His437Gln)
c.1275T>A (p.His425Gln)
c.1467T>A (p.His489Gln)
6g.29672585T>ACA363042982ZFP57c.1526A>T (p.His509Leu)
c.1310A>T (p.His437Leu)
c.1274A>T (p.His425Leu)
c.1466A>T (p.His489Leu)
6g.29672585T>CCA363042983ZFP57c.1526A>G (p.His509Arg)
c.1310A>G (p.His437Arg)
c.1274A>G (p.His425Arg)
c.1466A>G (p.His489Arg)
6g.29672585T>GCA363042984ZFP57c.1526A>C (p.His509Pro)
c.1310A>C (p.His437Pro)
c.1274A>C (p.His425Pro)
c.1466A>C (p.His489Pro)
6g.29672586G>ACA363042987ZFP57c.1525C>T (p.His509Tyr)
c.1309C>T (p.His437Tyr)
c.1273C>T (p.His425Tyr)
c.1465C>T (p.His489Tyr)
6g.29672586G>CCA363042985ZFP57c.1525C>G (p.His509Asp)
c.1309C>G (p.His437Asp)
c.1273C>G (p.His425Asp)
c.1465C>G (p.His489Asp)
6g.29672586G>TCA363042986ZFP57c.1525C>A (p.His509Asn)
c.1309C>A (p.His437Asn)
c.1273C>A (p.His425Asn)
c.1465C>A (p.His489Asn)
6g.29672587G>ACA449458213ZFP57c.1524C>T (p.Ile508=)
c.1308C>T (p.Ile436=)
c.1272C>T (p.Ile424=)
c.1464C>T (p.Ile488=)
COSMIC
6g.29672587G>CCA363042988ZFP57c.1524C>G (p.Ile508Met)
c.1308C>G (p.Ile436Met)
c.1272C>G (p.Ile424Met)
c.1464C>G (p.Ile488Met)
6g.29672587G>TCA449458212ZFP57c.1524C>A (p.Ile508=)
c.1308C>A (p.Ile436=)
c.1272C>A (p.Ile424=)
c.1464C>A (p.Ile488=)
6g.29672588A=CA1618398804ZFP57c.1523T= (p.Ile508=)
c.1307T= (p.Ile436=)
c.1271T= (p.Ile424=)
c.1463T= (p.Ile488=)
6g.29672588A>CCA363042989ZFP57c.1523T>G (p.Ile508Ser)
c.1307T>G (p.Ile436Ser)
c.1271T>G (p.Ile424Ser)
c.1463T>G (p.Ile488Ser)
gnomAD v4
6g.29672588A>GCA363042990ZFP57c.1523T>C (p.Ile508Thr)
c.1307T>C (p.Ile436Thr)
c.1271T>C (p.Ile424Thr)
c.1463T>C (p.Ile488Thr)
6g.29672588A>TCA363042991ZFP57c.1523T>A (p.Ile508Asn)
c.1307T>A (p.Ile436Asn)
c.1271T>A (p.Ile424Asn)
c.1463T>A (p.Ile488Asn)
dbSNP gnomAD v2 gnomAD v4
6g.29672589T>ACA363042992ZFP57c.1522A>T (p.Ile508Phe)
c.1306A>T (p.Ile436Phe)
c.1270A>T (p.Ile424Phe)
c.1462A>T (p.Ile488Phe)
6g.29672589T>CCA363042993ZFP57c.1522A>G (p.Ile508Val)
c.1306A>G (p.Ile436Val)
c.1270A>G (p.Ile424Val)
c.1462A>G (p.Ile488Val)
dbSNP gnomAD v4
6g.29672589T>GCA363042994ZFP57c.1522A>C (p.Ile508Leu)
c.1306A>C (p.Ile436Leu)
c.1270A>C (p.Ile424Leu)
c.1462A>C (p.Ile488Leu)
6g.29672590C>ACA363042995ZFP57c.1521G>T (p.Arg507Ser)
c.1305G>T (p.Arg435Ser)
c.1269G>T (p.Arg423Ser)
c.1461G>T (p.Arg487Ser)
ClinVar gnomAD v4
6g.29672590C>GCA363042996ZFP57c.1521G>C (p.Arg507Ser)
c.1305G>C (p.Arg435Ser)
c.1269G>C (p.Arg423Ser)
c.1461G>C (p.Arg487Ser)
6g.29672590C>TCA449458216ZFP57c.1521G>A (p.Arg507=)
c.1305G>A (p.Arg435=)
c.1269G>A (p.Arg423=)
c.1461G>A (p.Arg487=)
6g.29672591C>ACA3690668ZFP57c.1520G>T (p.Arg507Met)
c.1304G>T (p.Arg435Met)
c.1268G>T (p.Arg423Met)
c.1460G>T (p.Arg487Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672591C=CA1618398805ZFP57c.1520G= (p.Arg507=)
c.1304G= (p.Arg435=)
c.1268G= (p.Arg423=)
c.1460G= (p.Arg487=)
6g.29672591C>GCA363042997ZFP57c.1520G>C (p.Arg507Thr)
c.1304G>C (p.Arg435Thr)
c.1268G>C (p.Arg423Thr)
c.1460G>C (p.Arg487Thr)
6g.29672591C>TCA3690669ZFP57c.1520G>A (p.Arg507Lys)
c.1304G>A (p.Arg435Lys)
c.1268G>A (p.Arg423Lys)
c.1460G>A (p.Arg487Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.29672592T>ACA363042998ZFP57c.1519A>T (p.Arg507Trp)
c.1303A>T (p.Arg435Trp)
c.1267A>T (p.Arg423Trp)
c.1459A>T (p.Arg487Trp)
6g.29672592T>CCA363042999ZFP57c.1519A>G (p.Arg507Gly)
c.1303A>G (p.Arg435Gly)
c.1267A>G (p.Arg423Gly)
c.1459A>G (p.Arg487Gly)
dbSNP gnomAD v2 gnomAD v4
6g.29672592T>GCA449458218ZFP57c.1519A>C (p.Arg507=)
c.1303A>C (p.Arg435=)
c.1267A>C (p.Arg423=)
c.1459A>C (p.Arg487=)
6g.29672592T=CA1618398806ZFP57c.1519A= (p.Arg507=)
c.1303A= (p.Arg435=)
c.1267A= (p.Arg423=)
c.1459A= (p.Arg487=)
6g.29672592_29672593delinsTGCA1618398807ZFP57c.1518_1519delinsCA (p.Pro506=)
c.1302_1303delinsCA (p.Pro434=)
c.1266_1267delinsCA (p.Pro422=)
c.1458_1459delinsCA (p.Pro486=)
6g.29672593G>ACA449458221ZFP57c.1518C>T (p.Pro506=)
c.1302C>T (p.Pro434=)
c.1266C>T (p.Pro422=)
c.1458C>T (p.Pro486=)
dbSNP
6g.29672593G>CCA3690670ZFP57c.1518C>G (p.Pro506=)
c.1302C>G (p.Pro434=)
c.1266C>G (p.Pro422=)
c.1458C>G (p.Pro486=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672593G=CA1618398808ZFP57c.1518C= (p.Pro506=)
c.1302C= (p.Pro434=)
c.1266C= (p.Pro422=)
c.1458C= (p.Pro486=)
6g.29672593G>TCA3690671ZFP57c.1518C>A (p.Pro506=)
c.1302C>A (p.Pro434=)
c.1266C>A (p.Pro422=)
c.1458C>A (p.Pro486=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672598delCA566285251ZFP57c.1518del (p.Arg507GlyfsTer10)
c.1302del (p.Arg435GlyfsTer10)
c.1266del (p.Arg423GlyfsTer10)
c.1458del (p.Arg487GlyfsTer10)
dbSNP gnomAD v2 gnomAD v4
6g.29672594G>ACA363043000ZFP57c.1517C>T (p.Pro506Leu)
c.1301C>T (p.Pro434Leu)
c.1265C>T (p.Pro422Leu)
c.1457C>T (p.Pro486Leu)
6g.29672594G>CCA135974334ZFP57c.1517C>G (p.Pro506Arg)
c.1301C>G (p.Pro434Arg)
c.1265C>G (p.Pro422Arg)
c.1457C>G (p.Pro486Arg)
dbSNP gnomAD v4
6g.29672594G=CA1618398809ZFP57c.1517C= (p.Pro506=)
c.1301C= (p.Pro434=)
c.1265C= (p.Pro422=)
c.1457C= (p.Pro486=)
6g.29672594G>TCA363043001ZFP57c.1517C>A (p.Pro506His)
c.1301C>A (p.Pro434His)
c.1265C>A (p.Pro422His)
c.1457C>A (p.Pro486His)
6g.29672595G>ACA3690673ZFP57c.1516C>T (p.Pro506Ser)
c.1300C>T (p.Pro434Ser)
c.1264C>T (p.Pro422Ser)
c.1456C>T (p.Pro486Ser)
dbSNP ExAC
6g.29672595G>CCA363043002ZFP57c.1516C>G (p.Pro506Ala)
c.1300C>G (p.Pro434Ala)
c.1264C>G (p.Pro422Ala)
c.1456C>G (p.Pro486Ala)
6g.29672595G=CA1618398810ZFP57c.1516C= (p.Pro506=)
c.1300C= (p.Pro434=)
c.1264C= (p.Pro422=)
c.1456C= (p.Pro486=)
6g.29672595G>TCA3690672ZFP57c.1516C>A (p.Pro506Thr)
c.1300C>A (p.Pro434Thr)
c.1264C>A (p.Pro422Thr)
c.1456C>A (p.Pro486Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672596G>ACA449458230ZFP57c.1515C>T (p.Pro505=)
c.1299C>T (p.Pro433=)
c.1263C>T (p.Pro421=)
c.1455C>T (p.Pro485=)
gnomAD v4
6g.29672596G>CCA449458232ZFP57c.1515C>G (p.Pro505=)
c.1299C>G (p.Pro433=)
c.1263C>G (p.Pro421=)
c.1455C>G (p.Pro485=)
6g.29672596G>TCA449458233ZFP57c.1515C>A (p.Pro505=)
c.1299C>A (p.Pro433=)
c.1263C>A (p.Pro421=)
c.1455C>A (p.Pro485=)
dbSNP
6g.29672597G>ACA363043003ZFP57c.1514C>T (p.Pro505Leu)
c.1298C>T (p.Pro433Leu)
c.1262C>T (p.Pro421Leu)
c.1454C>T (p.Pro485Leu)
gnomAD v4
6g.29672597G>CCA363043004ZFP57c.1514C>G (p.Pro505Arg)
c.1298C>G (p.Pro433Arg)
c.1262C>G (p.Pro421Arg)
c.1454C>G (p.Pro485Arg)
6g.29672597G>TCA363043005ZFP57c.1514C>A (p.Pro505His)
c.1298C>A (p.Pro433His)
c.1262C>A (p.Pro421His)
c.1454C>A (p.Pro485His)
gnomAD v4
6g.29672598G>ACA363043006ZFP57c.1513C>T (p.Pro505Ser)
c.1297C>T (p.Pro433Ser)
c.1261C>T (p.Pro421Ser)
c.1453C>T (p.Pro485Ser)
gnomAD v4
6g.29672598G>CCA363043007ZFP57c.1513C>G (p.Pro505Ala)
c.1297C>G (p.Pro433Ala)
c.1261C>G (p.Pro421Ala)
c.1453C>G (p.Pro485Ala)
6g.29672598G>TCA363043008ZFP57c.1513C>A (p.Pro505Thr)
c.1297C>A (p.Pro433Thr)
c.1261C>A (p.Pro421Thr)
c.1453C>A (p.Pro485Thr)
6g.29672599A>CCA449458239ZFP57c.1512T>G (p.Ser504=)
c.1296T>G (p.Ser432=)
c.1260T>G (p.Ser420=)
c.1452T>G (p.Ser484=)
6g.29672599A>GCA449458236ZFP57c.1512T>C (p.Ser504=)
c.1296T>C (p.Ser432=)
c.1260T>C (p.Ser420=)
c.1452T>C (p.Ser484=)
6g.29672599A>TCA449458238ZFP57c.1512T>A (p.Ser504=)
c.1296T>A (p.Ser432=)
c.1260T>A (p.Ser420=)
c.1452T>A (p.Ser484=)
6g.29672600G>ACA363043010ZFP57c.1511C>T (p.Ser504Phe)
c.1295C>T (p.Ser432Phe)
c.1259C>T (p.Ser420Phe)
c.1451C>T (p.Ser484Phe)
6g.29672600G>CCA363043009ZFP57c.1511C>G (p.Ser504Cys)
c.1295C>G (p.Ser432Cys)
c.1259C>G (p.Ser420Cys)
c.1451C>G (p.Ser484Cys)
gnomAD v4
6g.29672600G=CA1618398811ZFP57c.1511C= (p.Ser504=)
c.1295C= (p.Ser432=)
c.1259C= (p.Ser420=)
c.1451C= (p.Ser484=)
6g.29672600G>TCA135974342ZFP57c.1511C>A (p.Ser504Tyr)
c.1295C>A (p.Ser432Tyr)
c.1259C>A (p.Ser420Tyr)
c.1451C>A (p.Ser484Tyr)
dbSNP gnomAD v4
6g.29672601A>CCA363043011ZFP57c.1510T>G (p.Ser504Ala)
c.1294T>G (p.Ser432Ala)
c.1258T>G (p.Ser420Ala)
c.1450T>G (p.Ser484Ala)
6g.29672601A>GCA363043012ZFP57c.1510T>C (p.Ser504Pro)
c.1294T>C (p.Ser432Pro)
c.1258T>C (p.Ser420Pro)
c.1450T>C (p.Ser484Pro)
6g.29672601A>TCA363043013ZFP57c.1510T>A (p.Ser504Thr)
c.1294T>A (p.Ser432Thr)
c.1258T>A (p.Ser420Thr)
c.1450T>A (p.Ser484Thr)
6g.29672602T>ACA363043014ZFP57c.1509A>T (p.Gln503His)
c.1293A>T (p.Gln431His)
c.1257A>T (p.Gln419His)
c.1449A>T (p.Gln483His)
6g.29672602T>CCA3690674ZFP57c.1509A>G (p.Gln503=)
c.1293A>G (p.Gln431=)
c.1257A>G (p.Gln419=)
c.1449A>G (p.Gln483=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672602T>GCA363043015ZFP57c.1509A>C (p.Gln503His)
c.1293A>C (p.Gln431His)
c.1257A>C (p.Gln419His)
c.1449A>C (p.Gln483His)
6g.29672602T=CA1618398812ZFP57c.1509A= (p.Gln503=)
c.1293A= (p.Gln431=)
c.1257A= (p.Gln419=)
c.1449A= (p.Gln483=)
6g.29672603T>ACA363043016ZFP57c.1508A>T (p.Gln503Leu)
c.1292A>T (p.Gln431Leu)
c.1256A>T (p.Gln419Leu)
c.1448A>T (p.Gln483Leu)
6g.29672603T>CCA363043017ZFP57c.1508A>G (p.Gln503Arg)
c.1292A>G (p.Gln431Arg)
c.1256A>G (p.Gln419Arg)
c.1448A>G (p.Gln483Arg)
6g.29672603T>GCA363043018ZFP57c.1508A>C (p.Gln503Pro)
c.1292A>C (p.Gln431Pro)
c.1256A>C (p.Gln419Pro)
c.1448A>C (p.Gln483Pro)
6g.29672604G>ACA363043019ZFP57c.1507C>T (p.Gln503Ter)
c.1291C>T (p.Gln431Ter)
c.1255C>T (p.Gln419Ter)
c.1447C>T (p.Gln483Ter)
6g.29672604G>CCA363043020ZFP57c.1507C>G (p.Gln503Glu)
c.1291C>G (p.Gln431Glu)
c.1255C>G (p.Gln419Glu)
c.1447C>G (p.Gln483Glu)
6g.29672604G>TCA363043021ZFP57c.1507C>A (p.Gln503Lys)
c.1291C>A (p.Gln431Lys)
c.1255C>A (p.Gln419Lys)
c.1447C>A (p.Gln483Lys)
6g.29672605A>CCA363043023ZFP57c.1506T>G (p.Asp502Glu)
c.1290T>G (p.Asp430Glu)
c.1254T>G (p.Asp418Glu)
c.1446T>G (p.Asp482Glu)
6g.29672605A>GCA449458255ZFP57c.1506T>C (p.Asp502=)
c.1290T>C (p.Asp430=)
c.1254T>C (p.Asp418=)
c.1446T>C (p.Asp482=)
6g.29672605A>TCA363043022ZFP57c.1506T>A (p.Asp502Glu)
c.1290T>A (p.Asp430Glu)
c.1254T>A (p.Asp418Glu)
c.1446T>A (p.Asp482Glu)
6g.29672606T>ACA363043024ZFP57c.1505A>T (p.Asp502Val)
c.1289A>T (p.Asp430Val)
c.1253A>T (p.Asp418Val)
c.1445A>T (p.Asp482Val)
6g.29672606T>CCA363043025ZFP57c.1505A>G (p.Asp502Gly)
c.1289A>G (p.Asp430Gly)
c.1253A>G (p.Asp418Gly)
c.1445A>G (p.Asp482Gly)
dbSNP
6g.29672606T>GCA363043026ZFP57c.1505A>C (p.Asp502Ala)
c.1289A>C (p.Asp430Ala)
c.1253A>C (p.Asp418Ala)
c.1445A>C (p.Asp482Ala)
gnomAD v4
6g.29672606T=CA1618398813ZFP57c.1505A= (p.Asp502=)
c.1289A= (p.Asp430=)
c.1253A= (p.Asp418=)
c.1445A= (p.Asp482=)
6g.29672607C>ACA363043027ZFP57c.1504G>T (p.Asp502Tyr)
c.1288G>T (p.Asp430Tyr)
c.1252G>T (p.Asp418Tyr)
c.1444G>T (p.Asp482Tyr)
6g.29672607C>GCA363043028ZFP57c.1504G>C (p.Asp502His)
c.1288G>C (p.Asp430His)
c.1252G>C (p.Asp418His)
c.1444G>C (p.Asp482His)
gnomAD v4
6g.29672607C>TCA363043029ZFP57c.1504G>A (p.Asp502Asn)
c.1288G>A (p.Asp430Asn)
c.1252G>A (p.Asp418Asn)
c.1444G>A (p.Asp482Asn)
6g.29672608A=CA1618398814ZFP57c.1503T= (p.Gly501=)
c.1287T= (p.Gly429=)
c.1251T= (p.Gly417=)
c.1443T= (p.Gly481=)
6g.29672608A>CCA449458264ZFP57c.1503T>G (p.Gly501=)
c.1287T>G (p.Gly429=)
c.1251T>G (p.Gly417=)
c.1443T>G (p.Gly481=)
gnomAD v4
6g.29672608A>GCA449458267ZFP57c.1503T>C (p.Gly501=)
c.1287T>C (p.Gly429=)
c.1251T>C (p.Gly417=)
c.1443T>C (p.Gly481=)
dbSNP
6g.29672608A>TCA449458265ZFP57c.1503T>A (p.Gly501=)
c.1287T>A (p.Gly429=)
c.1251T>A (p.Gly417=)
c.1443T>A (p.Gly481=)
6g.29672609C>ACA363043030ZFP57c.1502G>T (p.Gly501Val)
c.1286G>T (p.Gly429Val)
c.1250G>T (p.Gly417Val)
c.1442G>T (p.Gly481Val)
6g.29672609C=CA1618398815ZFP57c.1502G= (p.Gly501=)
c.1286G= (p.Gly429=)
c.1250G= (p.Gly417=)
c.1442G= (p.Gly481=)
6g.29672609C>GCA363043031ZFP57c.1502G>C (p.Gly501Ala)
c.1286G>C (p.Gly429Ala)
c.1250G>C (p.Gly417Ala)
c.1442G>C (p.Gly481Ala)
6g.29672609C>TCA363043032ZFP57c.1502G>A (p.Gly501Asp)
c.1286G>A (p.Gly429Asp)
c.1250G>A (p.Gly417Asp)
c.1442G>A (p.Gly481Asp)
dbSNP gnomAD v4
6g.29672610delCA2677767658ZFP57c.1502del (p.Gly501ValfsTer16)
c.1286del (p.Gly429ValfsTer16)
c.1250del (p.Gly417ValfsTer16)
c.1442del (p.Gly481ValfsTer16)
gnomAD v4
6g.29672610C>ACA363043033ZFP57c.1501G>T (p.Gly501Cys)
c.1285G>T (p.Gly429Cys)
c.1249G>T (p.Gly417Cys)
c.1441G>T (p.Gly481Cys)
6g.29672610C=CA1618398816ZFP57c.1501G= (p.Gly501=)
c.1285G= (p.Gly429=)
c.1249G= (p.Gly417=)
c.1441G= (p.Gly481=)
6g.29672610C>GCA363043034ZFP57c.1501G>C (p.Gly501Arg)
c.1285G>C (p.Gly429Arg)
c.1249G>C (p.Gly417Arg)
c.1441G>C (p.Gly481Arg)
6g.29672610C>TCA135974344ZFP57c.1501G>A (p.Gly501Ser)
c.1285G>A (p.Gly429Ser)
c.1249G>A (p.Gly417Ser)
c.1441G>A (p.Gly481Ser)
dbSNP gnomAD v3 gnomAD v4
6g.29672611T>ACA449458277ZFP57c.1500A>T (p.Gly500=)
c.1284A>T (p.Gly428=)
c.1248A>T (p.Gly416=)
c.1440A>T (p.Gly480=)
6g.29672611T>CCA449458275ZFP57c.1500A>G (p.Gly500=)
c.1284A>G (p.Gly428=)
c.1248A>G (p.Gly416=)
c.1440A>G (p.Gly480=)
6g.29672611T>GCA449458276ZFP57c.1500A>C (p.Gly500=)
c.1284A>C (p.Gly428=)
c.1248A>C (p.Gly416=)
c.1440A>C (p.Gly480=)
6g.29672612C>ACA363043036ZFP57c.1499G>T (p.Gly500Val)
c.1283G>T (p.Gly428Val)
c.1247G>T (p.Gly416Val)
c.1439G>T (p.Gly480Val)
6g.29672612C>GCA363043037ZFP57c.1499G>C (p.Gly500Ala)
c.1283G>C (p.Gly428Ala)
c.1247G>C (p.Gly416Ala)
c.1439G>C (p.Gly480Ala)
6g.29672612C>TCA363043035ZFP57c.1499G>A (p.Gly500Glu)
c.1283G>A (p.Gly428Glu)
c.1247G>A (p.Gly416Glu)
c.1439G>A (p.Gly480Glu)
gnomAD v4
6g.29672613C>ACA363043038ZFP57c.1498G>T (p.Gly500Ter)
c.1282G>T (p.Gly428Ter)
c.1246G>T (p.Gly416Ter)
c.1438G>T (p.Gly480Ter)
gnomAD v4
6g.29672613C=CA1618398817ZFP57c.1498G= (p.Gly500=)
c.1282G= (p.Gly428=)
c.1246G= (p.Gly416=)
c.1438G= (p.Gly480=)
6g.29672613C>GCA363043039ZFP57c.1498G>C (p.Gly500Arg)
c.1282G>C (p.Gly428Arg)
c.1246G>C (p.Gly416Arg)
c.1438G>C (p.Gly480Arg)
6g.29672613C>TCA3690675ZFP57c.1498G>A (p.Gly500Arg)
c.1282G>A (p.Gly428Arg)
c.1246G>A (p.Gly416Arg)
c.1438G>A (p.Gly480Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672614A>CCA363043040ZFP57c.1497T>G (p.His499Gln)
c.1281T>G (p.His427Gln)
c.1245T>G (p.His415Gln)
c.1437T>G (p.His479Gln)
6g.29672614A>GCA449458287ZFP57c.1497T>C (p.His499=)
c.1281T>C (p.His427=)
c.1245T>C (p.His415=)
c.1437T>C (p.His479=)
6g.29672614A>TCA363043041ZFP57c.1497T>A (p.His499Gln)
c.1281T>A (p.His427Gln)
c.1245T>A (p.His415Gln)
c.1437T>A (p.His479Gln)
gnomAD v4
6g.29672615T>ACA363043044ZFP57c.1496A>T (p.His499Leu)
c.1280A>T (p.His427Leu)
c.1244A>T (p.His415Leu)
c.1436A>T (p.His479Leu)
6g.29672615T>CCA363043042ZFP57c.1496A>G (p.His499Arg)
c.1280A>G (p.His427Arg)
c.1244A>G (p.His415Arg)
c.1436A>G (p.His479Arg)
6g.29672615T>GCA363043043ZFP57c.1496A>C (p.His499Pro)
c.1280A>C (p.His427Pro)
c.1244A>C (p.His415Pro)
c.1436A>C (p.His479Pro)
gnomAD v4
6g.29672616G>ACA363043045ZFP57c.1495C>T (p.His499Tyr)
c.1279C>T (p.His427Tyr)
c.1243C>T (p.His415Tyr)
c.1435C>T (p.His479Tyr)
6g.29672616G>CCA363043046ZFP57c.1495C>G (p.His499Asp)
c.1279C>G (p.His427Asp)
c.1243C>G (p.His415Asp)
c.1435C>G (p.His479Asp)
6g.29672616G>TCA363043047ZFP57c.1495C>A (p.His499Asn)
c.1279C>A (p.His427Asn)
c.1243C>A (p.His415Asn)
c.1435C>A (p.His479Asn)
6g.29672617C>ACA363043048ZFP57c.1494G>T (p.Lys498Asn)
c.1278G>T (p.Lys426Asn)
c.1242G>T (p.Lys414Asn)
c.1434G>T (p.Lys478Asn)
6g.29672617C>GCA363043049ZFP57c.1494G>C (p.Lys498Asn)
c.1278G>C (p.Lys426Asn)
c.1242G>C (p.Lys414Asn)
c.1434G>C (p.Lys478Asn)
6g.29672617C>TCA449458290ZFP57c.1494G>A (p.Lys498=)
c.1278G>A (p.Lys426=)
c.1242G>A (p.Lys414=)
c.1434G>A (p.Lys478=)
gnomAD v4
6g.29672618T>ACA363043052ZFP57c.1493A>T (p.Lys498Met)
c.1277A>T (p.Lys426Met)
c.1241A>T (p.Lys414Met)
c.1433A>T (p.Lys478Met)
6g.29672618T>CCA363043051ZFP57c.1493A>G (p.Lys498Arg)
c.1277A>G (p.Lys426Arg)
c.1241A>G (p.Lys414Arg)
c.1433A>G (p.Lys478Arg)
6g.29672618T>GCA363043050ZFP57c.1493A>C (p.Lys498Thr)
c.1277A>C (p.Lys426Thr)
c.1241A>C (p.Lys414Thr)
c.1433A>C (p.Lys478Thr)
6g.29672619T>ACA363043053ZFP57c.1492A>T (p.Lys498Ter)
c.1276A>T (p.Lys426Ter)
c.1240A>T (p.Lys414Ter)
c.1432A>T (p.Lys478Ter)
6g.29672619T>CCA363043055ZFP57c.1492A>G (p.Lys498Glu)
c.1276A>G (p.Lys426Glu)
c.1240A>G (p.Lys414Glu)
c.1432A>G (p.Lys478Glu)
6g.29672619T>GCA363043054ZFP57c.1492A>C (p.Lys498Gln)
c.1276A>C (p.Lys426Gln)
c.1240A>C (p.Lys414Gln)
c.1432A>C (p.Lys478Gln)
6g.29672620C>ACA363043056ZFP57c.1491G>T (p.Trp497Cys)
c.1275G>T (p.Trp425Cys)
c.1239G>T (p.Trp413Cys)
c.1431G>T (p.Trp477Cys)
6g.29672620C>GCA363043058ZFP57c.1491G>C (p.Trp497Cys)
c.1275G>C (p.Trp425Cys)
c.1239G>C (p.Trp413Cys)
c.1431G>C (p.Trp477Cys)
6g.29672620C>TCA363043057ZFP57c.1491G>A (p.Trp497Ter)
c.1275G>A (p.Trp425Ter)
c.1239G>A (p.Trp413Ter)
c.1431G>A (p.Trp477Ter)
6g.29672621C>ACA363043059ZFP57c.1490G>T (p.Trp497Leu)
c.1274G>T (p.Trp425Leu)
c.1238G>T (p.Trp413Leu)
c.1430G>T (p.Trp477Leu)
6g.29672621C>GCA363043060ZFP57c.1490G>C (p.Trp497Ser)
c.1274G>C (p.Trp425Ser)
c.1238G>C (p.Trp413Ser)
c.1430G>C (p.Trp477Ser)
6g.29672621C>TCA363043061ZFP57c.1490G>A (p.Trp497Ter)
c.1274G>A (p.Trp425Ter)
c.1238G>A (p.Trp413Ter)
c.1430G>A (p.Trp477Ter)
COSMIC
6g.29672622A=CA1618398818ZFP57c.1489T= (p.Trp497=)
c.1273T= (p.Trp425=)
c.1237T= (p.Trp413=)
c.1429T= (p.Trp477=)
6g.29672622A>CCA363043062ZFP57c.1489T>G (p.Trp497Gly)
c.1273T>G (p.Trp425Gly)
c.1237T>G (p.Trp413Gly)
c.1429T>G (p.Trp477Gly)
6g.29672622A>GCA363043063ZFP57c.1489T>C (p.Trp497Arg)
c.1273T>C (p.Trp425Arg)
c.1237T>C (p.Trp413Arg)
c.1429T>C (p.Trp477Arg)
dbSNP
6g.29672622A>TCA363043064ZFP57c.1489T>A (p.Trp497Arg)
c.1273T>A (p.Trp425Arg)
c.1237T>A (p.Trp413Arg)
c.1429T>A (p.Trp477Arg)
6g.29672623T>ACA363043065ZFP57c.1488A>T (p.Glu496Asp)
c.1272A>T (p.Glu424Asp)
c.1236A>T (p.Glu412Asp)
c.1428A>T (p.Glu476Asp)
6g.29672623T>CCA449458294ZFP57c.1488A>G (p.Glu496=)
c.1272A>G (p.Glu424=)
c.1236A>G (p.Glu412=)
c.1428A>G (p.Glu476=)
6g.29672623T>GCA363043066ZFP57c.1488A>C (p.Glu496Asp)
c.1272A>C (p.Glu424Asp)
c.1236A>C (p.Glu412Asp)
c.1428A>C (p.Glu476Asp)
6g.29672624T>ACA363043067ZFP57c.1487A>T (p.Glu496Val)
c.1271A>T (p.Glu424Val)
c.1235A>T (p.Glu412Val)
c.1427A>T (p.Glu476Val)
6g.29672624T>CCA363043068ZFP57c.1487A>G (p.Glu496Gly)
c.1271A>G (p.Glu424Gly)
c.1235A>G (p.Glu412Gly)
c.1427A>G (p.Glu476Gly)
dbSNP gnomAD v4
6g.29672624T>GCA363043069ZFP57c.1487A>C (p.Glu496Ala)
c.1271A>C (p.Glu424Ala)
c.1235A>C (p.Glu412Ala)
c.1427A>C (p.Glu476Ala)
6g.29672624T=CA1618398819ZFP57c.1487A= (p.Glu496=)
c.1271A= (p.Glu424=)
c.1235A= (p.Glu412=)
c.1427A= (p.Glu476=)
6g.29672625C>ACA363043072ZFP57c.1486G>T (p.Glu496Ter)
c.1270G>T (p.Glu424Ter)
c.1234G>T (p.Glu412Ter)
c.1426G>T (p.Glu476Ter)
gnomAD v4
6g.29672625C>GCA363043071ZFP57c.1486G>C (p.Glu496Gln)
c.1270G>C (p.Glu424Gln)
c.1234G>C (p.Glu412Gln)
c.1426G>C (p.Glu476Gln)
6g.29672625C>TCA363043070ZFP57c.1486G>A (p.Glu496Lys)
c.1270G>A (p.Glu424Lys)
c.1234G>A (p.Glu412Lys)
c.1426G>A (p.Glu476Lys)
COSMIC
6g.29672626C>ACA363043073ZFP57c.1485G>T (p.Glu495Asp)
c.1269G>T (p.Glu423Asp)
c.1233G>T (p.Glu411Asp)
c.1425G>T (p.Glu475Asp)
6g.29672626C=CA1618398820ZFP57c.1485G= (p.Glu495=)
c.1269G= (p.Glu423=)
c.1233G= (p.Glu411=)
c.1425G= (p.Glu475=)
6g.29672626C>GCA3690676ZFP57c.1485G>C (p.Glu495Asp)
c.1269G>C (p.Glu423Asp)
c.1233G>C (p.Glu411Asp)
c.1425G>C (p.Glu475Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672626C>TCA449458296ZFP57c.1485G>A (p.Glu495=)
c.1269G>A (p.Glu423=)
c.1233G>A (p.Glu411=)
c.1425G>A (p.Glu475=)
6g.29672627T>ACA363043074ZFP57c.1484A>T (p.Glu495Val)
c.1268A>T (p.Glu423Val)
c.1232A>T (p.Glu411Val)
c.1424A>T (p.Glu475Val)
6g.29672627T>CCA363043075ZFP57c.1484A>G (p.Glu495Gly)
c.1268A>G (p.Glu423Gly)
c.1232A>G (p.Glu411Gly)
c.1424A>G (p.Glu475Gly)
gnomAD v4
6g.29672627T>GCA363043076ZFP57c.1484A>C (p.Glu495Ala)
c.1268A>C (p.Glu423Ala)
c.1232A>C (p.Glu411Ala)
c.1424A>C (p.Glu475Ala)
6g.29672628C>ACA363043077ZFP57c.1483G>T (p.Glu495Ter)
c.1267G>T (p.Glu423Ter)
c.1231G>T (p.Glu411Ter)
c.1423G>T (p.Glu475Ter)
6g.29672628C=CA1618398821ZFP57c.1483G= (p.Glu495=)
c.1267G= (p.Glu423=)
c.1231G= (p.Glu411=)
c.1423G= (p.Glu475=)
6g.29672628C>GCA363043078ZFP57c.1483G>C (p.Glu495Gln)
c.1267G>C (p.Glu423Gln)
c.1231G>C (p.Glu411Gln)
c.1423G>C (p.Glu475Gln)
6g.29672628C>TCA363043079ZFP57c.1483G>A (p.Glu495Lys)
c.1267G>A (p.Glu423Lys)
c.1231G>A (p.Glu411Lys)
c.1423G>A (p.Glu475Lys)
dbSNP gnomAD v2 gnomAD v4
6g.29672631delCA2770457527ZFP57c.1483del (p.Glu495ArgfsTer22)
c.1267del (p.Glu423ArgfsTer22)
c.1231del (p.Glu411ArgfsTer22)
c.1423del (p.Glu475ArgfsTer22)
6g.29672629C>ACA449458301ZFP57c.1482G>T (p.Gly494=)
c.1266G>T (p.Gly422=)
c.1230G>T (p.Gly410=)
c.1422G>T (p.Gly474=)
6g.29672629C>GCA449458302ZFP57c.1482G>C (p.Gly494=)
c.1266G>C (p.Gly422=)
c.1230G>C (p.Gly410=)
c.1422G>C (p.Gly474=)
6g.29672629C>TCA449458303ZFP57c.1482G>A (p.Gly494=)
c.1266G>A (p.Gly422=)
c.1230G>A (p.Gly410=)
c.1422G>A (p.Gly474=)
6g.29672630C>ACA363043080ZFP57c.1481G>T (p.Gly494Val)
c.1265G>T (p.Gly422Val)
c.1229G>T (p.Gly410Val)
c.1421G>T (p.Gly474Val)
6g.29672630C>GCA363043081ZFP57c.1481G>C (p.Gly494Ala)
c.1265G>C (p.Gly422Ala)
c.1229G>C (p.Gly410Ala)
c.1421G>C (p.Gly474Ala)
6g.29672630C>TCA363043082ZFP57c.1481G>A (p.Gly494Glu)
c.1265G>A (p.Gly422Glu)
c.1229G>A (p.Gly410Glu)
c.1421G>A (p.Gly474Glu)
6g.29672631C>ACA363043084ZFP57c.1480G>T (p.Gly494Trp)
c.1264G>T (p.Gly422Trp)
c.1228G>T (p.Gly410Trp)
c.1420G>T (p.Gly474Trp)
6g.29672631C=CA1618398822ZFP57c.1480G= (p.Gly494=)
c.1264G= (p.Gly422=)
c.1228G= (p.Gly410=)
c.1420G= (p.Gly474=)
6g.29672631C>GCA363043083ZFP57c.1480G>C (p.Gly494Arg)
c.1264G>C (p.Gly422Arg)
c.1228G>C (p.Gly410Arg)
c.1420G>C (p.Gly474Arg)
6g.29672631C>TCA3690677ZFP57c.1480G>A (p.Gly494Arg)
c.1264G>A (p.Gly422Arg)
c.1228G>A (p.Gly410Arg)
c.1420G>A (p.Gly474Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672632A>CCA449458306ZFP57c.1479T>G (p.Ala493=)
c.1263T>G (p.Ala421=)
c.1227T>G (p.Ala409=)
c.1419T>G (p.Ala473=)
6g.29672632A>GCA449458309ZFP57c.1479T>C (p.Ala493=)
c.1263T>C (p.Ala421=)
c.1227T>C (p.Ala409=)
c.1419T>C (p.Ala473=)
6g.29672632A>TCA449458307ZFP57c.1479T>A (p.Ala493=)
c.1263T>A (p.Ala421=)
c.1227T>A (p.Ala409=)
c.1419T>A (p.Ala473=)
6g.29672633G>ACA363043085ZFP57c.1478C>T (p.Ala493Val)
c.1262C>T (p.Ala421Val)
c.1226C>T (p.Ala409Val)
c.1418C>T (p.Ala473Val)
dbSNP gnomAD v4
6g.29672633G>CCA363043086ZFP57c.1478C>G (p.Ala493Gly)
c.1262C>G (p.Ala421Gly)
c.1226C>G (p.Ala409Gly)
c.1418C>G (p.Ala473Gly)
6g.29672633G=CA1618398823ZFP57c.1478C= (p.Ala493=)
c.1262C= (p.Ala421=)
c.1226C= (p.Ala409=)
c.1418C= (p.Ala473=)
6g.29672633G>TCA363043087ZFP57c.1478C>A (p.Ala493Asp)
c.1262C>A (p.Ala421Asp)
c.1226C>A (p.Ala409Asp)
c.1418C>A (p.Ala473Asp)
6g.29672634C>ACA3690678ZFP57c.1477G>T (p.Ala493Ser)
c.1261G>T (p.Ala421Ser)
c.1225G>T (p.Ala409Ser)
c.1417G>T (p.Ala473Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.29672634C=CA1618398824ZFP57c.1477G= (p.Ala493=)
c.1261G= (p.Ala421=)
c.1225G= (p.Ala409=)
c.1417G= (p.Ala473=)
6g.29672634C>GCA363043088ZFP57c.1477G>C (p.Ala493Pro)
c.1261G>C (p.Ala421Pro)
c.1225G>C (p.Ala409Pro)
c.1417G>C (p.Ala473Pro)
6g.29672634C>TCA363043089ZFP57c.1477G>A (p.Ala493Thr)
c.1261G>A (p.Ala421Thr)
c.1225G>A (p.Ala409Thr)
c.1417G>A (p.Ala473Thr)
6g.29672635C>ACA363043090ZFP57c.1476G>T (p.Met492Ile)
c.1260G>T (p.Met420Ile)
c.1224G>T (p.Met408Ile)
c.1416G>T (p.Met472Ile)
6g.29672635C>GCA363043091ZFP57c.1476G>C (p.Met492Ile)
c.1260G>C (p.Met420Ile)
c.1224G>C (p.Met408Ile)
c.1416G>C (p.Met472Ile)
6g.29672635C>TCA363043092ZFP57c.1476G>A (p.Met492Ile)
c.1260G>A (p.Met420Ile)
c.1224G>A (p.Met408Ile)
c.1416G>A (p.Met472Ile)
6g.29672636A=CA1618398825ZFP57c.1475T= (p.Met492=)
c.1259T= (p.Met420=)
c.1223T= (p.Met408=)
c.1415T= (p.Met472=)
6g.29672636A>CCA363043093ZFP57c.1475T>G (p.Met492Arg)
c.1259T>G (p.Met420Arg)
c.1223T>G (p.Met408Arg)
c.1415T>G (p.Met472Arg)
6g.29672636A>GCA363043094ZFP57c.1475T>C (p.Met492Thr)
c.1259T>C (p.Met420Thr)
c.1223T>C (p.Met408Thr)
c.1415T>C (p.Met472Thr)
dbSNP gnomAD v2 gnomAD v4
6g.29672636A>TCA363043095ZFP57c.1475T>A (p.Met492Lys)
c.1259T>A (p.Met420Lys)
c.1223T>A (p.Met408Lys)
c.1415T>A (p.Met472Lys)
6g.29672637T>ACA363043098ZFP57c.1474A>T (p.Met492Leu)
c.1258A>T (p.Met420Leu)
c.1222A>T (p.Met408Leu)
c.1414A>T (p.Met472Leu)
6g.29672637T>CCA363043096ZFP57c.1474A>G (p.Met492Val)
c.1258A>G (p.Met420Val)
c.1222A>G (p.Met408Val)
c.1414A>G (p.Met472Val)
gnomAD v4
6g.29672637T>GCA363043097ZFP57c.1474A>C (p.Met492Leu)
c.1258A>C (p.Met420Leu)
c.1222A>C (p.Met408Leu)
c.1414A>C (p.Met472Leu)
6g.29672638A>CCA449458313ZFP57c.1473T>G (p.Thr491=)
c.1257T>G (p.Thr419=)
c.1221T>G (p.Thr407=)
c.1413T>G (p.Thr471=)
6g.29672638A>GCA449458314ZFP57c.1473T>C (p.Thr491=)
c.1257T>C (p.Thr419=)
c.1221T>C (p.Thr407=)
c.1413T>C (p.Thr471=)
6g.29672638A>TCA449458315ZFP57c.1473T>A (p.Thr491=)
c.1257T>A (p.Thr419=)
c.1221T>A (p.Thr407=)
c.1413T>A (p.Thr471=)
6g.29672639G>ACA363043099ZFP57c.1472C>T (p.Thr491Ile)
c.1256C>T (p.Thr419Ile)
c.1220C>T (p.Thr407Ile)
c.1412C>T (p.Thr471Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.29672639G>CCA3690679ZFP57c.1472C>G (p.Thr491Ser)
c.1256C>G (p.Thr419Ser)
c.1220C>G (p.Thr407Ser)
c.1412C>G (p.Thr471Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672639G=CA1618398826ZFP57c.1472C= (p.Thr491=)
c.1256C= (p.Thr419=)
c.1220C= (p.Thr407=)
c.1412C= (p.Thr471=)
6g.29672639G>TCA363043101ZFP57c.1472C>A (p.Thr491Asn)
c.1256C>A (p.Thr419Asn)
c.1220C>A (p.Thr407Asn)
c.1412C>A (p.Thr471Asn)
6g.29672640T>ACA363043102ZFP57c.1471A>T (p.Thr491Ser)
c.1255A>T (p.Thr419Ser)
c.1219A>T (p.Thr407Ser)
c.1411A>T (p.Thr471Ser)
gnomAD v4
6g.29672640T>CCA363043103ZFP57c.1471A>G (p.Thr491Ala)
c.1255A>G (p.Thr419Ala)
c.1219A>G (p.Thr407Ala)
c.1411A>G (p.Thr471Ala)
6g.29672640T>GCA363043104ZFP57c.1471A>C (p.Thr491Pro)
c.1255A>C (p.Thr419Pro)
c.1219A>C (p.Thr407Pro)
c.1411A>C (p.Thr471Pro)
6g.29672641G>ACA449458319ZFP57c.1470C>T (p.Pro490=)
c.1254C>T (p.Pro418=)
c.1218C>T (p.Pro406=)
c.1410C>T (p.Pro470=)
6g.29672641G>CCA449458320ZFP57c.1470C>G (p.Pro490=)
c.1254C>G (p.Pro418=)
c.1218C>G (p.Pro406=)
c.1410C>G (p.Pro470=)
6g.29672641G>TCA449458321ZFP57c.1470C>A (p.Pro490=)
c.1254C>A (p.Pro418=)
c.1218C>A (p.Pro406=)
c.1410C>A (p.Pro470=)
6g.29672642G>ACA363043105ZFP57c.1469C>T (p.Pro490Leu)
c.1253C>T (p.Pro418Leu)
c.1217C>T (p.Pro406Leu)
c.1409C>T (p.Pro470Leu)
gnomAD v4
6g.29672642G>CCA363043106ZFP57c.1469C>G (p.Pro490Arg)
c.1253C>G (p.Pro418Arg)
c.1217C>G (p.Pro406Arg)
c.1409C>G (p.Pro470Arg)
gnomAD v4
6g.29672642G>TCA363043107ZFP57c.1469C>A (p.Pro490His)
c.1253C>A (p.Pro418His)
c.1217C>A (p.Pro406His)
c.1409C>A (p.Pro470His)
6g.29672643G>ACA363043108ZFP57c.1468C>T (p.Pro490Ser)
c.1252C>T (p.Pro418Ser)
c.1216C>T (p.Pro406Ser)
c.1408C>T (p.Pro470Ser)
dbSNP gnomAD v2 gnomAD v4
6g.29672643G>CCA363043109ZFP57c.1468C>G (p.Pro490Ala)
c.1252C>G (p.Pro418Ala)
c.1216C>G (p.Pro406Ala)
c.1408C>G (p.Pro470Ala)
6g.29672643G=CA1618398827ZFP57c.1468C= (p.Pro490=)
c.1252C= (p.Pro418=)
c.1216C= (p.Pro406=)
c.1408C= (p.Pro470=)
6g.29672643G>TCA363043110ZFP57c.1468C>A (p.Pro490Thr)
c.1252C>A (p.Pro418Thr)
c.1216C>A (p.Pro406Thr)
c.1408C>A (p.Pro470Thr)
gnomAD v4
6g.29672644G>ACA449458323ZFP57c.1467C>T (p.Val489=)
c.1251C>T (p.Val417=)
c.1215C>T (p.Val405=)
c.1407C>T (p.Val469=)
gnomAD v4
6g.29672644G>CCA449458324ZFP57c.1467C>G (p.Val489=)
c.1251C>G (p.Val417=)
c.1215C>G (p.Val405=)
c.1407C>G (p.Val469=)
6g.29672644G>TCA449458325ZFP57c.1467C>A (p.Val489=)
c.1251C>A (p.Val417=)
c.1215C>A (p.Val405=)
c.1407C>A (p.Val469=)
6g.29672645A>CCA363043113ZFP57c.1466T>G (p.Val489Gly)
c.1250T>G (p.Val417Gly)
c.1214T>G (p.Val405Gly)
c.1406T>G (p.Val469Gly)
6g.29672645A>GCA363043112ZFP57c.1466T>C (p.Val489Ala)
c.1250T>C (p.Val417Ala)
c.1214T>C (p.Val405Ala)
c.1406T>C (p.Val469Ala)
6g.29672645A>TCA363043111ZFP57c.1466T>A (p.Val489Asp)
c.1250T>A (p.Val417Asp)
c.1214T>A (p.Val405Asp)
c.1406T>A (p.Val469Asp)
6g.29672646C>ACA363043115ZFP57c.1465G>T (p.Val489Phe)
c.1249G>T (p.Val417Phe)
c.1213G>T (p.Val405Phe)
c.1405G>T (p.Val469Phe)
dbSNP gnomAD v2 gnomAD v4
6g.29672646C=CA1618398828ZFP57c.1465G= (p.Val489=)
c.1249G= (p.Val417=)
c.1213G= (p.Val405=)
c.1405G= (p.Val469=)
6g.29672646C>GCA363043114ZFP57c.1465G>C (p.Val489Leu)
c.1249G>C (p.Val417Leu)
c.1213G>C (p.Val405Leu)
c.1405G>C (p.Val469Leu)
6g.29672646C>TCA363043116ZFP57c.1465G>A (p.Val489Ile)
c.1249G>A (p.Val417Ile)
c.1213G>A (p.Val405Ile)
c.1405G>A (p.Val469Ile)
6g.29672647A>CCA363043117ZFP57c.1464T>G (p.Asp488Glu)
c.1248T>G (p.Asp416Glu)
c.1212T>G (p.Asp404Glu)
c.1404T>G (p.Asp468Glu)
6g.29672647A>GCA449458327ZFP57c.1464T>C (p.Asp488=)
c.1248T>C (p.Asp416=)
c.1212T>C (p.Asp404=)
c.1404T>C (p.Asp468=)
gnomAD v4
6g.29672647A>TCA363043118ZFP57c.1464T>A (p.Asp488Glu)
c.1248T>A (p.Asp416Glu)
c.1212T>A (p.Asp404Glu)
c.1404T>A (p.Asp468Glu)
6g.29672648T>ACA363043119ZFP57c.1463A>T (p.Asp488Val)
c.1247A>T (p.Asp416Val)
c.1211A>T (p.Asp404Val)
c.1403A>T (p.Asp468Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.29672648T>CCA135974378ZFP57c.1463A>G (p.Asp488Gly)
c.1247A>G (p.Asp416Gly)
c.1211A>G (p.Asp404Gly)
c.1403A>G (p.Asp468Gly)
dbSNP
6g.29672648T>GCA363043121ZFP57c.1463A>C (p.Asp488Ala)
c.1247A>C (p.Asp416Ala)
c.1211A>C (p.Asp404Ala)
c.1403A>C (p.Asp468Ala)
6g.29672648T=CA1618398829ZFP57c.1463A= (p.Asp488=)
c.1247A= (p.Asp416=)
c.1211A= (p.Asp404=)
c.1403A= (p.Asp468=)
6g.29672649C>ACA363043123ZFP57c.1462G>T (p.Asp488Tyr)
c.1246G>T (p.Asp416Tyr)
c.1210G>T (p.Asp404Tyr)
c.1402G>T (p.Asp468Tyr)
6g.29672649C>GCA363043124ZFP57c.1462G>C (p.Asp488His)
c.1246G>C (p.Asp416His)
c.1210G>C (p.Asp404His)
c.1402G>C (p.Asp468His)
6g.29672649C>TCA363043125ZFP57c.1462G>A (p.Asp488Asn)
c.1246G>A (p.Asp416Asn)
c.1210G>A (p.Asp404Asn)
c.1402G>A (p.Asp468Asn)
6g.29672650A=CA1618398830ZFP57c.1461T= (p.His487=)
c.1245T= (p.His415=)
c.1209T= (p.His403=)
c.1401T= (p.His467=)
6g.29672650A>CCA363043127ZFP57c.1461T>G (p.His487Gln)
c.1245T>G (p.His415Gln)
c.1209T>G (p.His403Gln)
c.1401T>G (p.His467Gln)
gnomAD v4
6g.29672650A>GCA449458329ZFP57c.1461T>C (p.His487=)
c.1245T>C (p.His415=)
c.1209T>C (p.His403=)
c.1401T>C (p.His467=)
6g.29672650A>TCA363043128ZFP57c.1461T>A (p.His487Gln)
c.1245T>A (p.His415Gln)
c.1209T>A (p.His403Gln)
c.1401T>A (p.His467Gln)
dbSNP gnomAD v2 gnomAD v4
6g.29672651T>ACA363043129ZFP57c.1460A>T (p.His487Leu)
c.1244A>T (p.His415Leu)
c.1208A>T (p.His403Leu)
c.1400A>T (p.His467Leu)
gnomAD v4
6g.29672651T>CCA363043130ZFP57c.1460A>G (p.His487Arg)
c.1244A>G (p.His415Arg)
c.1208A>G (p.His403Arg)
c.1400A>G (p.His467Arg)
dbSNP gnomAD v4
6g.29672651T>GCA363043132ZFP57c.1460A>C (p.His487Pro)
c.1244A>C (p.His415Pro)
c.1208A>C (p.His403Pro)
c.1400A>C (p.His467Pro)
6g.29672651T=CA1618398831ZFP57c.1460A= (p.His487=)
c.1244A= (p.His415=)
c.1208A= (p.His403=)
c.1400A= (p.His467=)
6g.29672652G>ACA3690680ZFP57c.1459C>T (p.His487Tyr)
c.1243C>T (p.His415Tyr)
c.1207C>T (p.His403Tyr)
c.1399C>T (p.His467Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.29672652G>CCA363043133ZFP57c.1459C>G (p.His487Asp)
c.1243C>G (p.His415Asp)
c.1207C>G (p.His403Asp)
c.1399C>G (p.His467Asp)
6g.29672652G=CA1618398832ZFP57c.1459C= (p.His487=)
c.1243C= (p.His415=)
c.1207C= (p.His403=)
c.1399C= (p.His467=)
6g.29672652G>TCA363043134ZFP57c.1459C>A (p.His487Asn)
c.1243C>A (p.His415Asn)
c.1207C>A (p.His403Asn)
c.1399C>A (p.His467Asn)

Number of alleles fetched