Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45804314C>ACA406404697RSPH6Ac.1591G>T (p.Val531Leu)
c.799G>T (p.Val267Leu)
 dbSNP gnomAD v4
19g.45804314C=CA2338614968RSPH6Ac.1591G= (p.Val531=)
c.799G= (p.Val267=)
19g.45804314C>GCA406404696RSPH6Ac.1591G>C (p.Val531Leu)
c.799G>C (p.Val267Leu)
19g.45804314C>TCA9522625RSPH6Ac.1591G>A (p.Val531Met)
c.799G>A (p.Val267Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804314_45804317delinsCGGGCA2338614969RSPH6Ac.1588_1591delinsCCCG (p.Pro530=)
c.796_799delinsCCCG (p.Pro266=)
19g.45804315G>ACA308997026RSPH6Ac.1590C>T (p.Pro530=)
c.798C>T (p.Pro266=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804315G>CCA507828591RSPH6Ac.1590C>G (p.Pro530=)
c.798C>G (p.Pro266=)
 COSMIC
19g.45804315G=CA2338614970RSPH6Ac.1590C= (p.Pro530=)
c.798C= (p.Pro266=)
19g.45804315G>TCA507828592RSPH6Ac.1590C>A (p.Pro530=)
c.798C>A (p.Pro266=)
19g.45804318delCA2585869016RSPH6Ac.1590del (p.Val531CysfsTer27)
c.798del (p.Val267CysfsTer27)
 gnomAD v4
19g.45804316_45804318delCA882763069RSPH6Ac.1588_1590del (p.Pro530del)
c.796_798del (p.Pro266del)
 dbSNP gnomAD v3 gnomAD v4
19g.45804316G>ACA406404698RSPH6Ac.1589C>T (p.Pro530Leu)
c.797C>T (p.Pro266Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.45804316G>CCA406404699RSPH6Ac.1589C>G (p.Pro530Arg)
c.797C>G (p.Pro266Arg)
19g.45804316G=CA2338614971RSPH6Ac.1589C= (p.Pro530=)
c.797C= (p.Pro266=)
19g.45804316G>TCA406404700RSPH6Ac.1589C>A (p.Pro530His)
c.797C>A (p.Pro266His)
19g.45804317G>ACA406404701RSPH6Ac.1588C>T (p.Pro530Ser)
c.796C>T (p.Pro266Ser)
19g.45804317G>CCA406404702RSPH6Ac.1588C>G (p.Pro530Ala)
c.796C>G (p.Pro266Ala)
19g.45804317G>TCA406404703RSPH6Ac.1588C>A (p.Pro530Thr)
c.796C>A (p.Pro266Thr)
19g.45804318G>ACA507828593RSPH6Ac.1587C>T (p.Ile529=)
c.795C>T (p.Ile265=)
 dbSNP gnomAD v3 gnomAD v4
19g.45804318G>CCA406404704RSPH6Ac.1587C>G (p.Ile529Met)
c.795C>G (p.Ile265Met)
19g.45804318G=CA2338614972RSPH6Ac.1587C= (p.Ile529=)
c.795C= (p.Ile265=)
19g.45804318G>TCA507828594RSPH6Ac.1587C>A (p.Ile529=)
c.795C>A (p.Ile265=)
 gnomAD v4
19g.45804319A=CA2338614973RSPH6Ac.1586T= (p.Ile529=)
c.794T= (p.Ile265=)
19g.45804319A>CCA406404705RSPH6Ac.1586T>G (p.Ile529Ser)
c.794T>G (p.Ile265Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.45804319A>GCA406404706RSPH6Ac.1586T>C (p.Ile529Thr)
c.794T>C (p.Ile265Thr)
 gnomAD v4
19g.45804319A>TCA406404707RSPH6Ac.1586T>A (p.Ile529Asn)
c.794T>A (p.Ile265Asn)
19g.45804320T>ACA9522626RSPH6Ac.1585A>T (p.Ile529Phe)
c.793A>T (p.Ile265Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804320T>CCA406404709RSPH6Ac.1585A>G (p.Ile529Val)
c.793A>G (p.Ile265Val)
19g.45804320T>GCA406404708RSPH6Ac.1585A>C (p.Ile529Leu)
c.793A>C (p.Ile265Leu)
19g.45804320T=CA2338614974RSPH6Ac.1585A= (p.Ile529=)
c.793A= (p.Ile265=)
19g.45804321G>ACA507828597RSPH6Ac.1584C>T (p.Gly528=)
c.792C>T (p.Gly264=)
19g.45804321G>CCA507828596RSPH6Ac.1584C>G (p.Gly528=)
c.792C>G (p.Gly264=)
19g.45804321G>TCA507828595RSPH6Ac.1584C>A (p.Gly528=)
c.792C>A (p.Gly264=)
19g.45804322C>ACA406404710RSPH6Ac.1583G>T (p.Gly528Val)
c.791G>T (p.Gly264Val)
19g.45804322C>GCA406404711RSPH6Ac.1583G>C (p.Gly528Ala)
c.791G>C (p.Gly264Ala)
19g.45804322C>TCA406404712RSPH6Ac.1583G>A (p.Gly528Asp)
c.791G>A (p.Gly264Asp)
19g.45804323C>ACA406404713RSPH6Ac.1582G>T (p.Gly528Cys)
c.790G>T (p.Gly264Cys)
19g.45804323C>GCA406404714RSPH6Ac.1582G>C (p.Gly528Arg)
c.790G>C (p.Gly264Arg)
19g.45804323C>TCA406404715RSPH6Ac.1582G>A (p.Gly528Ser)
c.790G>A (p.Gly264Ser)
19g.45804324C>ACA406404716RSPH6Ac.1581G>T (p.Glu527Asp)
c.789G>T (p.Glu263Asp)
19g.45804324C=CA2338614975RSPH6Ac.1581G= (p.Glu527=)
c.789G= (p.Glu263=)
19g.45804324C>GCA9522627RSPH6Ac.1581G>C (p.Glu527Asp)
c.789G>C (p.Glu263Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804324C>TCA507828598RSPH6Ac.1581G>A (p.Glu527=)
c.789G>A (p.Glu263=)
19g.45804325T>ACA406404717RSPH6Ac.1580A>T (p.Glu527Val)
c.788A>T (p.Glu263Val)
19g.45804325T>CCA406404718RSPH6Ac.1580A>G (p.Glu527Gly)
c.788A>G (p.Glu263Gly)
19g.45804325T>GCA406404719RSPH6Ac.1580A>C (p.Glu527Ala)
c.788A>C (p.Glu263Ala)
19g.45804326C>ACA9522629RSPH6Ac.1579G>T (p.Glu527Ter)
c.787G>T (p.Glu263Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804326C=CA2338614976RSPH6Ac.1579G= (p.Glu527=)
c.787G= (p.Glu263=)
19g.45804326C>GCA406404720RSPH6Ac.1579G>C (p.Glu527Gln)
c.787G>C (p.Glu263Gln)
19g.45804326C>TCA9522628RSPH6Ac.1579G>A (p.Glu527Lys)
c.787G>A (p.Glu263Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804327G>ACA9522630RSPH6Ac.1578C>T (p.Phe526=)
c.786C>T (p.Phe262=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804327G>CCA406404722RSPH6Ac.1578C>G (p.Phe526Leu)
c.786C>G (p.Phe262Leu)
19g.45804327G=CA2338614977RSPH6Ac.1578C= (p.Phe526=)
c.786C= (p.Phe262=)
19g.45804327G>TCA406404721RSPH6Ac.1578C>A (p.Phe526Leu)
c.786C>A (p.Phe262Leu)
19g.45804328A=CA2338614978RSPH6Ac.1577T= (p.Phe526=)
c.785T= (p.Phe262=)
19g.45804328A>CCA406404723RSPH6Ac.1577T>G (p.Phe526Cys)
c.785T>G (p.Phe262Cys)
19g.45804328A>GCA406404724RSPH6Ac.1577T>C (p.Phe526Ser)
c.785T>C (p.Phe262Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.45804328A>TCA406404725RSPH6Ac.1577T>A (p.Phe526Tyr)
c.785T>A (p.Phe262Tyr)
19g.45804329A>CCA406404726RSPH6Ac.1576T>G (p.Phe526Val)
c.784T>G (p.Phe262Val)
19g.45804329A>GCA406404727RSPH6Ac.1576T>C (p.Phe526Leu)
c.784T>C (p.Phe262Leu)
 gnomAD v4
19g.45804329A>TCA406404728RSPH6Ac.1576T>A (p.Phe526Ile)
c.784T>A (p.Phe262Ile)
 gnomAD v4
19g.45804330G>ACA507828599RSPH6Ac.1575C>T (p.Asp525=)
c.783C>T (p.Asp261=)
19g.45804330G>CCA406404729RSPH6Ac.1575C>G (p.Asp525Glu)
c.783C>G (p.Asp261Glu)
19g.45804330G>TCA406404730RSPH6Ac.1575C>A (p.Asp525Glu)
c.783C>A (p.Asp261Glu)
19g.45804331T>ACA406404731RSPH6Ac.1574A>T (p.Asp525Val)
c.782A>T (p.Asp261Val)
19g.45804331T>CCA406404732RSPH6Ac.1574A>G (p.Asp525Gly)
c.782A>G (p.Asp261Gly)
19g.45804331T>GCA406404733RSPH6Ac.1574A>C (p.Asp525Ala)
c.782A>C (p.Asp261Ala)
19g.45804332C>ACA406404736RSPH6Ac.1573G>T (p.Asp525Tyr)
c.781G>T (p.Asp261Tyr)
19g.45804332C>GCA406404735RSPH6Ac.1573G>C (p.Asp525His)
c.781G>C (p.Asp261His)
19g.45804332C>TCA406404734RSPH6Ac.1573G>A (p.Asp525Asn)
c.781G>A (p.Asp261Asn)
 COSMIC
19g.45804333C>ACA507828600RSPH6Ac.1572G>T (p.Pro524=)
c.780G>T (p.Pro260=)
19g.45804333C=CA2338614979RSPH6Ac.1572G= (p.Pro524=)
c.780G= (p.Pro260=)
19g.45804333C>GCA507828601RSPH6Ac.1572G>C (p.Pro524=)
c.780G>C (p.Pro260=)
 dbSNP
19g.45804333C>TCA9522631RSPH6Ac.1572G>A (p.Pro524=)
c.780G>A (p.Pro260=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804334G>ACA9522633RSPH6Ac.1571C>T (p.Pro524Leu)
c.779C>T (p.Pro260Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804334G>CCA9522632RSPH6Ac.1571C>G (p.Pro524Arg)
c.779C>G (p.Pro260Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804334G=CA2338614980RSPH6Ac.1571C= (p.Pro524=)
c.779C= (p.Pro260=)
19g.45804334G>TCA406404737RSPH6Ac.1571C>A (p.Pro524Gln)
c.779C>A (p.Pro260Gln)
19g.45804335G>ACA9522634RSPH6Ac.1570C>T (p.Pro524Ser)
c.778C>T (p.Pro260Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804335G>CCA406404738RSPH6Ac.1570C>G (p.Pro524Ala)
c.778C>G (p.Pro260Ala)
19g.45804335G=CA2338614981RSPH6Ac.1570C= (p.Pro524=)
c.778C= (p.Pro260=)
19g.45804335G>TCA406404739RSPH6Ac.1570C>A (p.Pro524Thr)
c.778C>A (p.Pro260Thr)
19g.45804336G>ACA507828602RSPH6Ac.1569C>T (p.Asn523=)
c.777C>T (p.Asn259=)
 dbSNP gnomAD v4
19g.45804336G>CCA406404740RSPH6Ac.1569C>G (p.Asn523Lys)
c.777C>G (p.Asn259Lys)
19g.45804336G=CA2338614982RSPH6Ac.1569C= (p.Asn523=)
c.777C= (p.Asn259=)
19g.45804336G>TCA9522635RSPH6Ac.1569C>A (p.Asn523Lys)
c.777C>A (p.Asn259Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804337T>ACA406404741RSPH6Ac.1568A>T (p.Asn523Ile)
c.776A>T (p.Asn259Ile)
19g.45804337T>CCA406404742RSPH6Ac.1568A>G (p.Asn523Ser)
c.776A>G (p.Asn259Ser)
19g.45804337T>GCA406404743RSPH6Ac.1568A>C (p.Asn523Thr)
c.776A>C (p.Asn259Thr)
19g.45804338T>ACA406404744RSPH6Ac.1567A>T (p.Asn523Tyr)
c.775A>T (p.Asn259Tyr)
19g.45804338T>CCA406404745RSPH6Ac.1567A>G (p.Asn523Asp)
c.775A>G (p.Asn259Asp)
19g.45804338T>GCA406404746RSPH6Ac.1567A>C (p.Asn523His)
c.775A>C (p.Asn259His)
19g.45804339C>ACA406404748RSPH6Ac.1566G>T (p.Glu522Asp)
c.774G>T (p.Glu258Asp)
19g.45804339C>GCA406404747RSPH6Ac.1566G>C (p.Glu522Asp)
c.774G>C (p.Glu258Asp)
19g.45804339C>TCA507965284RSPH6Ac.1566G>A (p.Glu522=)
c.774G>A (p.Glu258=)
19g.45804342_45804344delCA2585869017RSPH6Ac.1564_1566del (p.Glu522del)
c.772_774del (p.Glu258del)
 gnomAD v4
19g.45804340T>ACA406404749RSPH6Ac.1565A>T (p.Glu522Val)
c.773A>T (p.Glu258Val)
19g.45804340T>CCA406404750RSPH6Ac.1565A>G (p.Glu522Gly)
c.773A>G (p.Glu258Gly)
19g.45804340T>GCA406404751RSPH6Ac.1565A>C (p.Glu522Ala)
c.773A>C (p.Glu258Ala)
19g.45804341C>ACA406404752RSPH6Ac.1564G>T (p.Glu522Ter)
c.772G>T (p.Glu258Ter)
19g.45804341C>GCA406404753RSPH6Ac.1564G>C (p.Glu522Gln)
c.772G>C (p.Glu258Gln)
19g.45804341C>TCA406404754RSPH6Ac.1564G>A (p.Glu522Lys)
c.772G>A (p.Glu258Lys)
19g.45804342C>ACA406404755RSPH6Ac.1563G>T (p.Glu521Asp)
c.771G>T (p.Glu257Asp)
19g.45804342C>GCA406404756RSPH6Ac.1563G>C (p.Glu521Asp)
c.771G>C (p.Glu257Asp)
19g.45804342C>TCA507965292RSPH6Ac.1563G>A (p.Glu521=)
c.771G>A (p.Glu257=)
19g.45804343_45804344delCA507965290RSPH6Ac.1562_1563del (p.Glu521GlyfsTer?)
c.770_771del (p.Glu257GlyfsTer?)
19g.45804343T>ACA406404757RSPH6Ac.1562A>T (p.Glu521Val)
c.770A>T (p.Glu257Val)
19g.45804343T>CCA406404758RSPH6Ac.1562A>G (p.Glu521Gly)
c.770A>G (p.Glu257Gly)
 gnomAD v4
19g.45804343T>GCA406404759RSPH6Ac.1562A>C (p.Glu521Ala)
c.770A>C (p.Glu257Ala)
19g.45804344C>ACA406404760RSPH6Ac.1561G>T (p.Glu521Ter)
c.769G>T (p.Glu257Ter)
 dbSNP gnomAD v4
19g.45804344C=CA2338614983RSPH6Ac.1561G= (p.Glu521=)
c.769G= (p.Glu257=)
19g.45804344C>GCA406404761RSPH6Ac.1561G>C (p.Glu521Gln)
c.769G>C (p.Glu257Gln)
19g.45804344C>TCA9522636RSPH6Ac.1561G>A (p.Glu521Lys)
c.769G>A (p.Glu257Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804345G>ACA9522637RSPH6Ac.1560C>T (p.Tyr520=)
c.768C>T (p.Tyr256=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804345G>CCA406404762RSPH6Ac.1560C>G (p.Tyr520Ter)
c.768C>G (p.Tyr256Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.45804345G=CA2338614984RSPH6Ac.1560C= (p.Tyr520=)
c.768C= (p.Tyr256=)
19g.45804345G>TCA406404763RSPH6Ac.1560C>A (p.Tyr520Ter)
c.768C>A (p.Tyr256Ter)
 gnomAD v4
19g.45804346T>ACA406404764RSPH6Ac.1559A>T (p.Tyr520Phe)
c.767A>T (p.Tyr256Phe)
19g.45804346T>CCA9522638RSPH6Ac.1559A>G (p.Tyr520Cys)
c.767A>G (p.Tyr256Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804346T>GCA406404765RSPH6Ac.1559A>C (p.Tyr520Ser)
c.767A>C (p.Tyr256Ser)
19g.45804346T=CA2338614985RSPH6Ac.1559A= (p.Tyr520=)
c.767A= (p.Tyr256=)
19g.45804346_45804353delCA507965298RSPH6Ac.1552_1559del (p.Asp518ArgfsTer?)
c.760_767del (p.Asp254ArgfsTer?)
19g.45804347A>CCA406404766RSPH6Ac.1558T>G (p.Tyr520Asp)
c.766T>G (p.Tyr256Asp)
19g.45804347A>GCA406404767RSPH6Ac.1558T>C (p.Tyr520His)
c.766T>C (p.Tyr256His)
 COSMIC
19g.45804347A>TCA406404768RSPH6Ac.1558T>A (p.Tyr520Asn)
c.766T>A (p.Tyr256Asn)
19g.45804348G>ACA507965302RSPH6Ac.1557C>T (p.Ser519=)
c.765C>T (p.Ser255=)
19g.45804348G>CCA507965303RSPH6Ac.1557C>G (p.Ser519=)
c.765C>G (p.Ser255=)
19g.45804348G>TCA507965305RSPH6Ac.1557C>A (p.Ser519=)
c.765C>A (p.Ser255=)
19g.45804349delCA2585869018RSPH6Ac.1557del (p.Tyr520ThrfsTer?)
c.765del (p.Tyr256ThrfsTer?)
 gnomAD v4
19g.45804349G>ACA406404769RSPH6Ac.1556C>T (p.Ser519Phe)
c.764C>T (p.Ser255Phe)
 gnomAD v4 COSMIC
19g.45804349G>CCA406404770RSPH6Ac.1556C>G (p.Ser519Cys)
c.764C>G (p.Ser255Cys)
19g.45804349G>TCA406404771RSPH6Ac.1556C>A (p.Ser519Tyr)
c.764C>A (p.Ser255Tyr)
19g.45804350A>CCA406404774RSPH6Ac.1555T>G (p.Ser519Ala)
c.763T>G (p.Ser255Ala)
19g.45804350A>GCA406404772RSPH6Ac.1555T>C (p.Ser519Pro)
c.763T>C (p.Ser255Pro)
 gnomAD v4
19g.45804350A>TCA406404773RSPH6Ac.1555T>A (p.Ser519Thr)
c.763T>A (p.Ser255Thr)
19g.45804351G>ACA507965309RSPH6Ac.1554C>T (p.Asp518=)
c.762C>T (p.Asp254=)
19g.45804351G>CCA406404775RSPH6Ac.1554C>G (p.Asp518Glu)
c.762C>G (p.Asp254Glu)
19g.45804351G>TCA406404776RSPH6Ac.1554C>A (p.Asp518Glu)
c.762C>A (p.Asp254Glu)
19g.45804351_45804355delinsGTCGCCA2338614987RSPH6Ac.1550_1554delinsGCGAC (p.Arg517=)
c.758_762delinsGCGAC (p.Arg253=)
19g.45804351_45804357delinsGTCGCGCCA2338614986RSPH6Ac.1548_1554delinsGCGCGAC (p.Gly516=)
c.756_762delinsGCGCGAC (p.Gly252=)
19g.45804352T>ACA406404777RSPH6Ac.1553A>T (p.Asp518Val)
c.761A>T (p.Asp254Val)
19g.45804352T>CCA406404778RSPH6Ac.1553A>G (p.Asp518Gly)
c.761A>G (p.Asp254Gly)
19g.45804352T>GCA406404779RSPH6Ac.1553A>C (p.Asp518Ala)
c.761A>C (p.Asp254Ala)
19g.45804352_45804355delCA882763146RSPH6Ac.1550_1553del (p.Arg517ProfsTer?)
c.758_761del (p.Arg253ProfsTer?)
 dbSNP
19g.45804352_45804357delCA9522639RSPH6Ac.1548_1553del (p.Arg517_Asp518del)
c.756_761del (p.Arg253_Asp254del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804353C>ACA406404780RSPH6Ac.1552G>T (p.Asp518Tyr)
c.760G>T (p.Asp254Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.45804353C=CA2338614988RSPH6Ac.1552G= (p.Asp518=)
c.760G= (p.Asp254=)
19g.45804353C>GCA406404781RSPH6Ac.1552G>C (p.Asp518His)
c.760G>C (p.Asp254His)
19g.45804353C>TCA406404782RSPH6Ac.1552G>A (p.Asp518Asn)
c.760G>A (p.Asp254Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.45804354G>ACA9522640RSPH6Ac.1551C>T (p.Arg517=)
c.759C>T (p.Arg253=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804354G>CCA507965317RSPH6Ac.1551C>G (p.Arg517=)
c.759C>G (p.Arg253=)
19g.45804354G=CA2338614989RSPH6Ac.1551C= (p.Arg517=)
c.759C= (p.Arg253=)
19g.45804354G>TCA507965370RSPH6Ac.1551C>A (p.Arg517=)
c.759C>A (p.Arg253=)
19g.45804355C>ACA406404783RSPH6Ac.1550G>T (p.Arg517Leu)
c.758G>T (p.Arg253Leu)
19g.45804355C=CA2338614990RSPH6Ac.1550G= (p.Arg517=)
c.758G= (p.Arg253=)
19g.45804355C>GCA406404784RSPH6Ac.1550G>C (p.Arg517Pro)
c.758G>C (p.Arg253Pro)
19g.45804355C>TCA406404785RSPH6Ac.1550G>A (p.Arg517His)
c.758G>A (p.Arg253His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804356G>ACA9522641RSPH6Ac.1549C>T (p.Arg517Cys)
c.757C>T (p.Arg253Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804356G>CCA406404787RSPH6Ac.1549C>G (p.Arg517Gly)
c.757C>G (p.Arg253Gly)
19g.45804356G=CA2338614991RSPH6Ac.1549C= (p.Arg517=)
c.757C= (p.Arg253=)
19g.45804356G>TCA406404786RSPH6Ac.1549C>A (p.Arg517Ser)
c.757C>A (p.Arg253Ser)
 dbSNP gnomAD v4
19g.45804357C>ACA507965376RSPH6Ac.1548G>T (p.Gly516=)
c.756G>T (p.Gly252=)
 dbSNP
19g.45804357C=CA2338614992RSPH6Ac.1548G= (p.Gly516=)
c.756G= (p.Gly252=)
19g.45804357C>GCA507965380RSPH6Ac.1548G>C (p.Gly516=)
c.756G>C (p.Gly252=)
19g.45804357C>TCA507965381RSPH6Ac.1548G>A (p.Gly516=)
c.756G>A (p.Gly252=)
19g.45804357_45804358insAACA9522642RSPH6Ac.1547_1548insTT (p.Arg517CysfsTer?)
c.755_756insTT (p.Arg253CysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804358C>ACA406404788RSPH6Ac.1547G>T (p.Gly516Val)
c.755G>T (p.Gly252Val)
19g.45804358C>GCA406404789RSPH6Ac.1547G>C (p.Gly516Ala)
c.755G>C (p.Gly252Ala)
19g.45804358C>TCA406404790RSPH6Ac.1547G>A (p.Gly516Glu)
c.755G>A (p.Gly252Glu)
 COSMIC
19g.45804359C>ACA406404791RSPH6Ac.1546G>T (p.Gly516Trp)
c.754G>T (p.Gly252Trp)
19g.45804359C=CA2338614993RSPH6Ac.1546G= (p.Gly516=)
c.754G= (p.Gly252=)
19g.45804359C>GCA406404792RSPH6Ac.1546G>C (p.Gly516Arg)
c.754G>C (p.Gly252Arg)
19g.45804359C>TCA9522643RSPH6Ac.1546G>A (p.Gly516Arg)
c.754G>A (p.Gly252Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804360A=CA2338614994RSPH6Ac.1545T= (p.Ala515=)
c.753T= (p.Ala251=)
19g.45804360A>CCA507965382RSPH6Ac.1545T>G (p.Ala515=)
c.753T>G (p.Ala251=)
19g.45804360A>GCA9522644RSPH6Ac.1545T>C (p.Ala515=)
c.753T>C (p.Ala251=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804360A>TCA507965383RSPH6Ac.1545T>A (p.Ala515=)
c.753T>A (p.Ala251=)
 dbSNP gnomAD v4
19g.45804361G>ACA308997053RSPH6Ac.1544C>T (p.Ala515Val)
c.752C>T (p.Ala251Val)
 dbSNP gnomAD v3 gnomAD v4
19g.45804361G>CCA9522645RSPH6Ac.1544C>G (p.Ala515Gly)
c.752C>G (p.Ala251Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804361G=CA2338614995RSPH6Ac.1544C= (p.Ala515=)
c.752C= (p.Ala251=)
19g.45804361G>TCA406404793RSPH6Ac.1544C>A (p.Ala515Asp)
c.752C>A (p.Ala251Asp)
19g.45804362C>ACA406404794RSPH6Ac.1543G>T (p.Ala515Ser)
c.751G>T (p.Ala251Ser)
19g.45804362C=CA2338614997RSPH6Ac.1543G= (p.Ala515=)
c.751G= (p.Ala251=)
19g.45804362C>GCA406404795RSPH6Ac.1543G>C (p.Ala515Pro)
c.751G>C (p.Ala251Pro)
19g.45804362C>TCA9522646RSPH6Ac.1543G>A (p.Ala515Thr)
c.751G>A (p.Ala251Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804362dupCA2338614996RSPH6Ac.1543dup (p.Ala515GlyfsTer?)
c.751dup (p.Ala251GlyfsTer?)
 dbSNP gnomAD v4
19g.45804363A>CCA507965385RSPH6Ac.1542T>G (p.Gly514=)
c.750T>G (p.Gly250=)
19g.45804363A>GCA507965389RSPH6Ac.1542T>C (p.Gly514=)
c.750T>C (p.Gly250=)
19g.45804363A>TCA507965387RSPH6Ac.1542T>A (p.Gly514=)
c.750T>A (p.Gly250=)
19g.45804364C>ACA406404797RSPH6Ac.1541G>T (p.Gly514Val)
c.749G>T (p.Gly250Val)
19g.45804364C=CA2338614998RSPH6Ac.1541G= (p.Gly514=)
c.749G= (p.Gly250=)
19g.45804364C>GCA406404796RSPH6Ac.1541G>C (p.Gly514Ala)
c.749G>C (p.Gly250Ala)
19g.45804364C>TCA9522647RSPH6Ac.1541G>A (p.Gly514Asp)
c.749G>A (p.Gly250Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804365C>ACA406404798RSPH6Ac.1540G>T (p.Gly514Cys)
c.748G>T (p.Gly250Cys)
19g.45804365C>GCA406404799RSPH6Ac.1540G>C (p.Gly514Arg)
c.748G>C (p.Gly250Arg)
19g.45804365C>TCA406404800RSPH6Ac.1540G>A (p.Gly514Ser)
c.748G>A (p.Gly250Ser)
 gnomAD v4
19g.45804366A>CCA507965394RSPH6Ac.1539T>G (p.Gly513=)
c.747T>G (p.Gly249=)
19g.45804366A>GCA507965396RSPH6Ac.1539T>C (p.Gly513=)
c.747T>C (p.Gly249=)
19g.45804366A>TCA507965398RSPH6Ac.1539T>A (p.Gly513=)
c.747T>A (p.Gly249=)
19g.45804367C>ACA9522648RSPH6Ac.1538G>T (p.Gly513Val)
c.746G>T (p.Gly249Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804367C=CA2338614999RSPH6Ac.1538G= (p.Gly513=)
c.746G= (p.Gly249=)
19g.45804367C>GCA406404801RSPH6Ac.1538G>C (p.Gly513Ala)
c.746G>C (p.Gly249Ala)
19g.45804367C>TCA9522649RSPH6Ac.1538G>A (p.Gly513Asp)
c.746G>A (p.Gly249Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804368C>ACA406404802RSPH6Ac.1537G>T (p.Gly513Cys)
c.745G>T (p.Gly249Cys)
19g.45804368C>GCA406404803RSPH6Ac.1537G>C (p.Gly513Arg)
c.745G>C (p.Gly249Arg)
19g.45804368C>TCA406404804RSPH6Ac.1537G>A (p.Gly513Ser)
c.745G>A (p.Gly249Ser)
19g.45804369T>ACA406404805RSPH6Ac.1536A>T (p.Glu512Asp)
c.744A>T (p.Glu248Asp)
19g.45804369T>CCA507965405RSPH6Ac.1536A>G (p.Glu512=)
c.744A>G (p.Glu248=)
19g.45804369T>GCA406404806RSPH6Ac.1536A>C (p.Glu512Asp)
c.744A>C (p.Glu248Asp)
19g.45804369_45804372delinsTTCCCA2338615000RSPH6Ac.1533_1536delinsGGAA (p.Glu511=)
c.741_744delinsGGAA (p.Glu247=)
19g.45804370T>ACA406404808RSPH6Ac.1535A>T (p.Glu512Val)
c.743A>T (p.Glu248Val)
19g.45804370T>CCA406404809RSPH6Ac.1535A>G (p.Glu512Gly)
c.743A>G (p.Glu248Gly)
19g.45804370T>GCA406404807RSPH6Ac.1535A>C (p.Glu512Ala)
c.743A>C (p.Glu248Ala)
19g.45804378_45804380delCA9522650RSPH6Ac.1533_1535del (p.Glu512del)
c.741_743del (p.Glu248del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804371C>ACA406404810RSPH6Ac.1534G>T (p.Glu512Ter)
c.742G>T (p.Glu248Ter)
19g.45804371C>GCA406404811RSPH6Ac.1534G>C (p.Glu512Gln)
c.742G>C (p.Glu248Gln)
19g.45804371C>TCA406404812RSPH6Ac.1534G>A (p.Glu512Lys)
c.742G>A (p.Glu248Lys)
19g.45804372C>ACA406404813RSPH6Ac.1533G>T (p.Glu511Asp)
c.741G>T (p.Glu247Asp)
19g.45804372C=CA2338615001RSPH6Ac.1533G= (p.Glu511=)
c.741G= (p.Glu247=)
19g.45804372C>GCA406404814RSPH6Ac.1533G>C (p.Glu511Asp)
c.741G>C (p.Glu247Asp)
19g.45804372C>TCA9522651RSPH6Ac.1533G>A (p.Glu511=)
c.741G>A (p.Glu247=)
 dbSNP ExAC gnomAD v2
19g.45804373T>ACA406404817RSPH6Ac.1532A>T (p.Glu511Val)
c.740A>T (p.Glu247Val)
19g.45804373T>CCA406404815RSPH6Ac.1532A>G (p.Glu511Gly)
c.740A>G (p.Glu247Gly)
19g.45804373T>GCA406404816RSPH6Ac.1532A>C (p.Glu511Ala)
c.740A>C (p.Glu247Ala)
 dbSNP
19g.45804373T=CA2338615002RSPH6Ac.1532A= (p.Glu511=)
c.740A= (p.Glu247=)
19g.45804374C>ACA406404818RSPH6Ac.1531G>T (p.Glu511Ter)
c.739G>T (p.Glu247Ter)
19g.45804374C=CA2338615003RSPH6Ac.1531G= (p.Glu511=)
c.739G= (p.Glu247=)
19g.45804374C>GCA406404819RSPH6Ac.1531G>C (p.Glu511Gln)
c.739G>C (p.Glu247Gln)
19g.45804374C>TCA308997068RSPH6Ac.1531G>A (p.Glu511Lys)
c.739G>A (p.Glu247Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.45804375C>ACA406404820RSPH6Ac.1530G>T (p.Glu510Asp)
c.738G>T (p.Glu246Asp)
19g.45804375C>GCA406404821RSPH6Ac.1530G>C (p.Glu510Asp)
c.738G>C (p.Glu246Asp)
19g.45804375C>TCA507965419RSPH6Ac.1530G>A (p.Glu510=)
c.738G>A (p.Glu246=)
19g.45804376T>ACA406404822RSPH6Ac.1529A>T (p.Glu510Val)
c.737A>T (p.Glu246Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804376T>CCA406404824RSPH6Ac.1529A>G (p.Glu510Gly)
c.737A>G (p.Glu246Gly)
19g.45804376T>GCA406404823RSPH6Ac.1529A>C (p.Glu510Ala)
c.737A>C (p.Glu246Ala)
19g.45804376T=CA2338615004RSPH6Ac.1529A= (p.Glu510=)
c.737A= (p.Glu246=)
19g.45804377C>ACA406404825RSPH6Ac.1528G>T (p.Glu510Ter)
c.736G>T (p.Glu246Ter)
19g.45804377C=CA2338615005RSPH6Ac.1528G= (p.Glu510=)
c.736G= (p.Glu246=)
19g.45804377C>GCA406404826RSPH6Ac.1528G>C (p.Glu510Gln)
c.736G>C (p.Glu246Gln)
19g.45804377C>TCA406404827RSPH6Ac.1528G>A (p.Glu510Lys)
c.736G>A (p.Glu246Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.45804378C>ACA406404828RSPH6Ac.1527G>T (p.Glu509Asp)
c.735G>T (p.Glu245Asp)
19g.45804378C=CA2338615006RSPH6Ac.1527G= (p.Glu509=)
c.735G= (p.Glu245=)
19g.45804378C>GCA9522652RSPH6Ac.1527G>C (p.Glu509Asp)
c.735G>C (p.Glu245Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804378C>TCA507965424RSPH6Ac.1527G>A (p.Glu509=)
c.735G>A (p.Glu245=)
19g.45804379T>ACA406404829RSPH6Ac.1526A>T (p.Glu509Val)
c.734A>T (p.Glu245Val)
19g.45804379T>CCA406404830RSPH6Ac.1526A>G (p.Glu509Gly)
c.734A>G (p.Glu245Gly)
 gnomAD v4
19g.45804379T>GCA406404831RSPH6Ac.1526A>C (p.Glu509Ala)
c.734A>C (p.Glu245Ala)
19g.45804380C>ACA406404832RSPH6Ac.1525G>T (p.Glu509Ter)
c.733G>T (p.Glu245Ter)
19g.45804380C=CA2338615007RSPH6Ac.1525G= (p.Glu509=)
c.733G= (p.Glu245=)
19g.45804380C>GCA406404833RSPH6Ac.1525G>C (p.Glu509Gln)
c.733G>C (p.Glu245Gln)
19g.45804380C>TCA9522653RSPH6Ac.1525G>A (p.Glu509Lys)
c.733G>A (p.Glu245Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804381G>ACA9522654RSPH6Ac.1524C>T (p.Asp508=)
c.732C>T (p.Asp244=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804381G>CCA406404835RSPH6Ac.1524C>G (p.Asp508Glu)
c.732C>G (p.Asp244Glu)
19g.45804381G=CA2338615008RSPH6Ac.1524C= (p.Asp508=)
c.732C= (p.Asp244=)
19g.45804381G>TCA406404834RSPH6Ac.1524C>A (p.Asp508Glu)
c.732C>A (p.Asp244Glu)
19g.45804382T>ACA406404836RSPH6Ac.1523A>T (p.Asp508Val)
c.731A>T (p.Asp244Val)
19g.45804382T>CCA406404838RSPH6Ac.1523A>G (p.Asp508Gly)
c.731A>G (p.Asp244Gly)
19g.45804382T>GCA406404837RSPH6Ac.1523A>C (p.Asp508Ala)
c.731A>C (p.Asp244Ala)
19g.45804383C>ACA406404839RSPH6Ac.1522G>T (p.Asp508Tyr)
c.730G>T (p.Asp244Tyr)
 gnomAD v4
19g.45804383C=CA2338615009RSPH6Ac.1522G= (p.Asp508=)
c.730G= (p.Asp244=)
19g.45804383C>GCA406404840RSPH6Ac.1522G>C (p.Asp508His)
c.730G>C (p.Asp244His)
19g.45804383C>TCA9522655RSPH6Ac.1522G>A (p.Asp508Asn)
c.730G>A (p.Asp244Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804384G>ACA507965433RSPH6Ac.1521C>T (p.Gly507=)
c.729C>T (p.Gly243=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804384G>CCA507965434RSPH6Ac.1521C>G (p.Gly507=)
c.729C>G (p.Gly243=)
19g.45804384G=CA2338615010RSPH6Ac.1521C= (p.Gly507=)
c.729C= (p.Gly243=)
19g.45804384G>TCA507965435RSPH6Ac.1521C>A (p.Gly507=)
c.729C>A (p.Gly243=)
 gnomAD v4
19g.45804385C>ACA406404841RSPH6Ac.1520G>T (p.Gly507Val)
c.728G>T (p.Gly243Val)
19g.45804385C=CA2338615011RSPH6Ac.1520G= (p.Gly507=)
c.728G= (p.Gly243=)
19g.45804385C>GCA406404843RSPH6Ac.1520G>C (p.Gly507Ala)
c.728G>C (p.Gly243Ala)
19g.45804385C>TCA406404842RSPH6Ac.1520G>A (p.Gly507Asp)
c.728G>A (p.Gly243Asp)
 dbSNP
19g.45804385_45804388delinsCCCTCA2338615012RSPH6Ac.1517_1520delinsAGGG (p.Glu506=)
c.725_728delinsAGGG (p.Glu242=)
19g.45804386C>ACA406404844RSPH6Ac.1519G>T (p.Gly507Cys)
c.727G>T (p.Gly243Cys)
19g.45804386C=CA2338615013RSPH6Ac.1519G= (p.Gly507=)
c.727G= (p.Gly243=)
19g.45804386C>GCA406404845RSPH6Ac.1519G>C (p.Gly507Arg)
c.727G>C (p.Gly243Arg)
19g.45804386C>TCA9522656RSPH6Ac.1519G>A (p.Gly507Ser)
c.727G>A (p.Gly243Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804393_45804395delCA308997077RSPH6Ac.1517_1519del (p.Glu506del)
c.725_727del (p.Glu242del)
 dbSNP gnomAD v4
19g.45804387C>ACA406404846RSPH6Ac.1518G>T (p.Glu506Asp)
c.726G>T (p.Glu242Asp)
19g.45804387C>GCA406404847RSPH6Ac.1518G>C (p.Glu506Asp)
c.726G>C (p.Glu242Asp)
19g.45804387C>TCA507965438RSPH6Ac.1518G>A (p.Glu506=)
c.726G>A (p.Glu242=)
19g.45804388T>ACA406404848RSPH6Ac.1517A>T (p.Glu506Val)
c.725A>T (p.Glu242Val)
19g.45804388T>CCA406404849RSPH6Ac.1517A>G (p.Glu506Gly)
c.725A>G (p.Glu242Gly)
19g.45804388T>GCA406404850RSPH6Ac.1517A>C (p.Glu506Ala)
c.725A>C (p.Glu242Ala)
19g.45804389C>ACA406404851RSPH6Ac.1516G>T (p.Glu506Ter)
c.724G>T (p.Glu242Ter)
19g.45804389C>GCA406404852RSPH6Ac.1516G>C (p.Glu506Gln)
c.724G>C (p.Glu242Gln)
19g.45804389C>TCA406404853RSPH6Ac.1516G>A (p.Glu506Lys)
c.724G>A (p.Glu242Lys)
19g.45804390C>ACA406404855RSPH6Ac.1515G>T (p.Glu505Asp)
c.723G>T (p.Glu241Asp)
19g.45804390C>GCA406404854RSPH6Ac.1515G>C (p.Glu505Asp)
c.723G>C (p.Glu241Asp)
19g.45804390C>TCA507965443RSPH6Ac.1515G>A (p.Glu505=)
c.723G>A (p.Glu241=)
 gnomAD v4
19g.45804391T>ACA406404856RSPH6Ac.1514A>T (p.Glu505Val)
c.722A>T (p.Glu241Val)
 ClinVar dbSNP gnomAD v4
19g.45804391T>CCA406404857RSPH6Ac.1514A>G (p.Glu505Gly)
c.722A>G (p.Glu241Gly)
19g.45804391T>GCA406404858RSPH6Ac.1514A>C (p.Glu505Ala)
c.722A>C (p.Glu241Ala)
19g.45804391T=CA2338615014RSPH6Ac.1514A= (p.Glu505=)
c.722A= (p.Glu241=)
19g.45804392C>ACA406404859RSPH6Ac.1513G>T (p.Glu505Ter)
c.721G>T (p.Glu241Ter)
19g.45804392C=CA2338615015RSPH6Ac.1513G= (p.Glu505=)
c.721G= (p.Glu241=)
19g.45804392C>GCA406404860RSPH6Ac.1513G>C (p.Glu505Gln)
c.721G>C (p.Glu241Gln)
19g.45804392C>TCA308997080RSPH6Ac.1513G>A (p.Glu505Lys)
c.721G>A (p.Glu241Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.45804393C>ACA406404861RSPH6Ac.1512G>T (p.Glu504Asp)
c.720G>T (p.Glu240Asp)
19g.45804393C>GCA406404862RSPH6Ac.1512G>C (p.Glu504Asp)
c.720G>C (p.Glu240Asp)
19g.45804393C>TCA507965448RSPH6Ac.1512G>A (p.Glu504=)
c.720G>A (p.Glu240=)
19g.45804394T>ACA406404863RSPH6Ac.1511A>T (p.Glu504Val)
c.719A>T (p.Glu240Val)
19g.45804394T>CCA406404864RSPH6Ac.1511A>G (p.Glu504Gly)
c.719A>G (p.Glu240Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.45804394T>GCA406404865RSPH6Ac.1511A>C (p.Glu504Ala)
c.719A>C (p.Glu240Ala)
19g.45804394T=CA2338615016RSPH6Ac.1511A= (p.Glu504=)
c.719A= (p.Glu240=)
19g.45804395C>ACA406404867RSPH6Ac.1510G>T (p.Glu504Ter)
c.718G>T (p.Glu240Ter)
19g.45804395C>GCA406404868RSPH6Ac.1510G>C (p.Glu504Gln)
c.718G>C (p.Glu240Gln)
19g.45804395C>TCA406404866RSPH6Ac.1510G>A (p.Glu504Lys)
c.718G>A (p.Glu240Lys)
19g.45804396A>CCA406404869RSPH6Ac.1509T>G (p.Ser503Arg)
c.717T>G (p.Ser239Arg)
19g.45804396A>GCA507965452RSPH6Ac.1509T>C (p.Ser503=)
c.717T>C (p.Ser239=)
19g.45804396A>TCA406404870RSPH6Ac.1509T>A (p.Ser503Arg)
c.717T>A (p.Ser239Arg)
19g.45804397C>ACA406404871RSPH6Ac.1508G>T (p.Ser503Ile)
c.716G>T (p.Ser239Ile)
19g.45804397C=CA2338615017RSPH6Ac.1508G= (p.Ser503=)
c.716G= (p.Ser239=)
19g.45804397C>GCA406404872RSPH6Ac.1508G>C (p.Ser503Thr)
c.716G>C (p.Ser239Thr)
19g.45804397C>TCA406404873RSPH6Ac.1508G>A (p.Ser503Asn)
c.716G>A (p.Ser239Asn)
 dbSNP
19g.45804398T>ACA406404876RSPH6Ac.1507A>T (p.Ser503Cys)
c.715A>T (p.Ser239Cys)
19g.45804398T>CCA406404874RSPH6Ac.1507A>G (p.Ser503Gly)
c.715A>G (p.Ser239Gly)
19g.45804398T>GCA406404875RSPH6Ac.1507A>C (p.Ser503Arg)
c.715A>C (p.Ser239Arg)
19g.45804398_45804401delCA2585869019RSPH6Ac.1504_1507del (p.Phe502ValfsTer?)
c.712_715del (p.Phe238ValfsTer?)
 gnomAD v4
19g.45804399A=CA2338615018RSPH6Ac.1506T= (p.Phe502=)
c.714T= (p.Phe238=)
19g.45804399A>CCA406404877RSPH6Ac.1506T>G (p.Phe502Leu)
c.714T>G (p.Phe238Leu)
 gnomAD v4
19g.45804399A>GCA507965455RSPH6Ac.1506T>C (p.Phe502=)
c.714T>C (p.Phe238=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804399A>TCA406404878RSPH6Ac.1506T>A (p.Phe502Leu)
c.714T>A (p.Phe238Leu)
19g.45804400A>CCA406404879RSPH6Ac.1505T>G (p.Phe502Cys)
c.713T>G (p.Phe238Cys)
19g.45804400A>GCA406404880RSPH6Ac.1505T>C (p.Phe502Ser)
c.713T>C (p.Phe238Ser)
19g.45804400A>TCA406404881RSPH6Ac.1505T>A (p.Phe502Tyr)
c.713T>A (p.Phe238Tyr)
19g.45804401A>CCA406404882RSPH6Ac.1504T>G (p.Phe502Val)
c.712T>G (p.Phe238Val)
19g.45804401A>GCA406404884RSPH6Ac.1504T>C (p.Phe502Leu)
c.712T>C (p.Phe238Leu)
19g.45804401A>TCA406404883RSPH6Ac.1504T>A (p.Phe502Ile)
c.712T>A (p.Phe238Ile)
 gnomAD v4
19g.45804402C>ACA406404885RSPH6Ac.1503G>T (p.Gln501His)
c.711G>T (p.Gln237His)
19g.45804402C=CA2338615019RSPH6Ac.1503G= (p.Gln501=)
c.711G= (p.Gln237=)
19g.45804402C>GCA406404886RSPH6Ac.1503G>C (p.Gln501His)
c.711G>C (p.Gln237His)
19g.45804402C>TCA9522657RSPH6Ac.1503G>A (p.Gln501=)
c.711G>A (p.Gln237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804403T>ACA406404887RSPH6Ac.1502A>T (p.Gln501Leu)
c.710A>T (p.Gln237Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.45804403T>CCA406404888RSPH6Ac.1502A>G (p.Gln501Arg)
c.710A>G (p.Gln237Arg)
 gnomAD v4
19g.45804403T>GCA406404889RSPH6Ac.1502A>C (p.Gln501Pro)
c.710A>C (p.Gln237Pro)
19g.45804403_45804404delCA2585869020RSPH6Ac.1501_1502del (p.Gln501ValfsTer2)
c.709_710del (p.Gln237ValfsTer2)
 gnomAD v4
19g.45804404G>ACA406404890RSPH6Ac.1501C>T (p.Gln501Ter)
c.709C>T (p.Gln237Ter)
 gnomAD v4
19g.45804404G>CCA406404891RSPH6Ac.1501C>G (p.Gln501Glu)
c.709C>G (p.Gln237Glu)
19g.45804404G>TCA406404892RSPH6Ac.1501C>A (p.Gln501Lys)
c.709C>A (p.Gln237Lys)
19g.45804405G>ACA507965461RSPH6Ac.1500C>T (p.Tyr500=)
c.708C>T (p.Tyr236=)
19g.45804405G>CCA406404893RSPH6Ac.1500C>G (p.Tyr500Ter)
c.708C>G (p.Tyr236Ter)
 gnomAD v4
19g.45804405G>TCA406404894RSPH6Ac.1500C>A (p.Tyr500Ter)
c.708C>A (p.Tyr236Ter)
19g.45804406T>ACA406404897RSPH6Ac.1499A>T (p.Tyr500Phe)
c.707A>T (p.Tyr236Phe)
19g.45804406T>CCA406404896RSPH6Ac.1499A>G (p.Tyr500Cys)
c.707A>G (p.Tyr236Cys)
19g.45804406T>GCA406404895RSPH6Ac.1499A>C (p.Tyr500Ser)
c.707A>C (p.Tyr236Ser)
19g.45804407A>CCA406404898RSPH6Ac.1498T>G (p.Tyr500Asp)
c.706T>G (p.Tyr236Asp)
19g.45804407A>GCA406404900RSPH6Ac.1498T>C (p.Tyr500His)
c.706T>C (p.Tyr236His)
 gnomAD v4
19g.45804407A>TCA406404899RSPH6Ac.1498T>A (p.Tyr500Asn)
c.706T>A (p.Tyr236Asn)
19g.45804409_45804411delCA2585869021RSPH6Ac.1496_1498del (p.Phe499del)
c.704_706del (p.Phe235del)
 gnomAD v4
19g.45804408G>ACA507965464RSPH6Ac.1497C>T (p.Phe499=)
c.705C>T (p.Phe235=)
19g.45804408G>CCA406404901RSPH6Ac.1497C>G (p.Phe499Leu)
c.705C>G (p.Phe235Leu)
19g.45804408G>TCA406404902RSPH6Ac.1497C>A (p.Phe499Leu)
c.705C>A (p.Phe235Leu)
19g.45804409A=CA2338615020RSPH6Ac.1496T= (p.Phe499=)
c.704T= (p.Phe235=)
19g.45804409A>CCA9522658RSPH6Ac.1496T>G (p.Phe499Cys)
c.704T>G (p.Phe235Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804409A>GCA406404903RSPH6Ac.1496T>C (p.Phe499Ser)
c.704T>C (p.Phe235Ser)
19g.45804409A>TCA406404904RSPH6Ac.1496T>A (p.Phe499Tyr)
c.704T>A (p.Phe235Tyr)
19g.45804410A>CCA406404905RSPH6Ac.1495T>G (p.Phe499Val)
c.703T>G (p.Phe235Val)
19g.45804410A>GCA406404906RSPH6Ac.1495T>C (p.Phe499Leu)
c.703T>C (p.Phe235Leu)
19g.45804410A>TCA406404907RSPH6Ac.1495T>A (p.Phe499Ile)
c.703T>A (p.Phe235Ile)
19g.45804411G>ACA308997084RSPH6Ac.1494C>T (p.Gly498=)
c.702C>T (p.Gly234=)
 dbSNP gnomAD v4
19g.45804411G>CCA507965467RSPH6Ac.1494C>G (p.Gly498=)
c.702C>G (p.Gly234=)
 gnomAD v4
19g.45804411G=CA2338615021RSPH6Ac.1494C= (p.Gly498=)
c.702C= (p.Gly234=)
19g.45804411G>TCA507965468RSPH6Ac.1494C>A (p.Gly498=)
c.702C>A (p.Gly234=)
19g.45804412C>ACA406404908RSPH6Ac.1493G>T (p.Gly498Val)
c.701G>T (p.Gly234Val)
 dbSNP gnomAD v4
19g.45804412C=CA2338615022RSPH6Ac.1493G= (p.Gly498=)
c.701G= (p.Gly234=)
19g.45804412C>GCA406404909RSPH6Ac.1493G>C (p.Gly498Ala)
c.701G>C (p.Gly234Ala)
19g.45804412C>TCA406404910RSPH6Ac.1493G>A (p.Gly498Asp)
c.701G>A (p.Gly234Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.45804413C>ACA406404913RSPH6Ac.1492G>T (p.Gly498Cys)
c.700G>T (p.Gly234Cys)
19g.45804413C>GCA406404912RSPH6Ac.1492G>C (p.Gly498Arg)
c.700G>C (p.Gly234Arg)
19g.45804413C>TCA406404911RSPH6Ac.1492G>A (p.Gly498Ser)
c.700G>A (p.Gly234Ser)
19g.45804414C>ACA507965473RSPH6Ac.1491G>T (p.Leu497=)
c.699G>T (p.Leu233=)
19g.45804414C>GCA507965474RSPH6Ac.1491G>C (p.Leu497=)
c.699G>C (p.Leu233=)
19g.45804414C>TCA507965472RSPH6Ac.1491G>A (p.Leu497=)
c.699G>A (p.Leu233=)

Number of alleles fetched