Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.87612621T>ACA357603561DSPPc.435T>A (p.Asn145Lys)
4g.87612621T>CCA3000896DSPPc.435T>C (p.Asn145=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612621T>GCA357603562DSPPc.435T>G (p.Asn145Lys)
gnomAD v4
4g.87612621T=CA1474384528DSPPc.435T= (p.Asn145=)
4g.87612622G>ACA357603563DSPPc.436G>A (p.Ala146Thr)
gnomAD v4
4g.87612622G>CCA357603564DSPPc.436G>C (p.Ala146Pro)
gnomAD v4
4g.87612622G=CA1474384529DSPPc.436G= (p.Ala146=)
4g.87612622G>TCA357603565DSPPc.436G>T (p.Ala146Ser)
dbSNP gnomAD v3 gnomAD v4
4g.87612623C>ACA357603566DSPPc.437C>A (p.Ala146Asp)
4g.87612623C>GCA357603567DSPPc.437C>G (p.Ala146Gly)
4g.87612623C>TCA357603568DSPPc.437C>T (p.Ala146Val)
4g.87612624T>ACA440294200DSPPc.438T>A (p.Ala146=)
4g.87612624T>CCA440294202DSPPc.438T>C (p.Ala146=)
dbSNP gnomAD v3 gnomAD v4
4g.87612624T>GCA440294204DSPPc.438T>G (p.Ala146=)
4g.87612624T=CA1474384530DSPPc.438T= (p.Ala146=)
4g.87612625G>ACA357603569DSPPc.439G>A (p.Gly147Arg)
4g.87612625G>CCA357603570DSPPc.439G>C (p.Gly147Arg)
4g.87612625G>TCA357603571DSPPc.439G>T (p.Gly147Ter)
4g.87612626G>ACA357603572DSPPc.440G>A (p.Gly147Glu)
4g.87612626G>CCA357603573DSPPc.440G>C (p.Gly147Ala)
4g.87612626G>TCA357603574DSPPc.440G>T (p.Gly147Val)
4g.87612627A=CA1474384531DSPPc.441A= (p.Gly147=)
4g.87612627A>CCA440294206DSPPc.441A>C (p.Gly147=)
4g.87612627A>GCA440294207DSPPc.441A>G (p.Gly147=)
COSMIC
4g.87612627A>TCA100849689DSPPc.441A>T (p.Gly147=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.87612628G>ACA357603575DSPPc.442G>A (p.Ala148Thr)
4g.87612628G>CCA357603577DSPPc.442G>C (p.Ala148Pro)
4g.87612628G>TCA357603576DSPPc.442G>T (p.Ala148Ser)
dbSNP
4g.87612629C>ACA357603578DSPPc.443C>A (p.Ala148Asp)
gnomAD v4
4g.87612629C>GCA357603579DSPPc.443C>G (p.Ala148Gly)
4g.87612629C>TCA357603580DSPPc.443C>T (p.Ala148Val)
4g.87612630C>ACA440294210DSPPc.444C>A (p.Ala148=)
4g.87612630C>GCA440294211DSPPc.444C>G (p.Ala148=)
4g.87612630C>TCA440294209DSPPc.444C>T (p.Ala148=)
4g.87612631A>CCA357603581DSPPc.445A>C (p.Thr149Pro)
4g.87612631A>GCA357603582DSPPc.445A>G (p.Thr149Ala)
4g.87612631A>TCA357603583DSPPc.445A>T (p.Thr149Ser)
4g.87612632C>ACA357603584DSPPc.446C>A (p.Thr149Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.87612632C=CA1474384532DSPPc.446C= (p.Thr149=)
4g.87612632C>GCA3000897DSPPc.446C>G (p.Thr149Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612632C>TCA357603585DSPPc.446C>T (p.Thr149Ile)
4g.87612633A>CCA440294215DSPPc.447A>C (p.Thr149=)
4g.87612633A>GCA440294216DSPPc.447A>G (p.Thr149=)
4g.87612633A>TCA440294217DSPPc.447A>T (p.Thr149=)
4g.87612634A=CA1474384533DSPPc.448A= (p.Asn150=)
4g.87612634A>CCA357603586DSPPc.448A>C (p.Asn150His)
4g.87612634A>GCA100849696DSPPc.448A>G (p.Asn150Asp)
dbSNP gnomAD v4
4g.87612634A>TCA357603587DSPPc.448A>T (p.Asn150Tyr)
4g.87612635A=CA1474384534DSPPc.449A= (p.Asn150=)
4g.87612635A>CCA357603590DSPPc.449A>C (p.Asn150Thr)
4g.87612635A>GCA357603588DSPPc.449A>G (p.Asn150Ser)
4g.87612635A>TCA357603589DSPPc.449A>T (p.Asn150Ile)
dbSNP
4g.87612636C>ACA357603591DSPPc.450C>A (p.Asn150Lys)
4g.87612636C>GCA357603592DSPPc.450C>G (p.Asn150Lys)
4g.87612636C>TCA440294221DSPPc.450C>T (p.Asn150=)
4g.87612637A>CCA440294222DSPPc.451A>C (p.Arg151=)
4g.87612637A>GCA357603593DSPPc.451A>G (p.Arg151Gly)
4g.87612637A>TCA357603594DSPPc.451A>T (p.Arg151Ter)
4g.87612638G>ACA357603595DSPPc.452G>A (p.Arg151Lys)
4g.87612638G>CCA357603596DSPPc.452G>C (p.Arg151Thr)
4g.87612638G>TCA357603597DSPPc.452G>T (p.Arg151Ile)
4g.87612639A>CCA357603598DSPPc.453A>C (p.Arg151Ser)
4g.87612639A>GCA440294225DSPPc.453A>G (p.Arg151=)
gnomAD v4
4g.87612639A>TCA357603599DSPPc.453A>T (p.Arg151Ser)
4g.87612640A=CA1474384535DSPPc.454A= (p.Ser152=)
4g.87612640A>CCA357603600DSPPc.454A>C (p.Ser152Arg)
4g.87612640A>GCA357603601DSPPc.454A>G (p.Ser152Gly)
dbSNP gnomAD v2 gnomAD v4
4g.87612640A>TCA357603603DSPPc.454A>T (p.Ser152Cys)
4g.87612641G>ACA357603607DSPPc.455G>A (p.Ser152Asn)
4g.87612641G>CCA357603608DSPPc.455G>C (p.Ser152Thr)
4g.87612641G>TCA357603605DSPPc.455G>T (p.Ser152Ile)
4g.87612642delCA2762527068DSPPc.456del (p.Ser152ArgfsTer?)
4g.87612642C>ACA357603609DSPPc.456C>A (p.Ser152Arg)
gnomAD v4
4g.87612642C=CA1474384536DSPPc.456C= (p.Ser152=)
4g.87612642C>GCA100849701DSPPc.456C>G (p.Ser152Arg)
dbSNP gnomAD v4
4g.87612642C>TCA440294227DSPPc.456C>T (p.Ser152=)
gnomAD v4
4g.87612643A=CA1474384537DSPPc.457A= (p.Asn153=)
4g.87612643A>CCA357603612DSPPc.457A>C (p.Asn153His)
dbSNP
4g.87612643A>GCA357603610DSPPc.457A>G (p.Asn153Asp)
4g.87612643A>TCA357603611DSPPc.457A>T (p.Asn153Tyr)
gnomAD v4
4g.87612644delCA2557129059DSPPc.458del (p.Asn153ThrfsTer?)
4g.87612644A>CCA357603613DSPPc.458A>C (p.Asn153Thr)
4g.87612644A>GCA357603614DSPPc.458A>G (p.Asn153Ser)
4g.87612644A>TCA357603615DSPPc.458A>T (p.Asn153Ile)
4g.87612645C>ACA357603616DSPPc.459C>A (p.Asn153Lys)
4g.87612645C=CA1474384538DSPPc.459C= (p.Asn153=)
4g.87612645C>GCA357603617DSPPc.459C>G (p.Asn153Lys)
4g.87612645C>TCA100849704DSPPc.459C>T (p.Asn153=)
dbSNP gnomAD v3 gnomAD v4
4g.87612646A>CCA357603618DSPPc.460A>C (p.Thr154Pro)
4g.87612646A>GCA357603620DSPPc.460A>G (p.Thr154Ala)
4g.87612646A>TCA357603619DSPPc.460A>T (p.Thr154Ser)
4g.87612647C>ACA357603621DSPPc.461C>A (p.Thr154Asn)
4g.87612647C=CA1474384539DSPPc.461C= (p.Thr154=)
4g.87612647C>GCA357603622DSPPc.461C>G (p.Thr154Ser)
dbSNP gnomAD v2 COSMIC
4g.87612647C>TCA357603623DSPPc.461C>T (p.Thr154Ile)
4g.87612648T>ACA440294231DSPPc.462T>A (p.Thr154=)
4g.87612648T>CCA3000898DSPPc.462T>C (p.Thr154=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612648T>GCA440294232DSPPc.462T>G (p.Thr154=)
4g.87612648T=CA1474384540DSPPc.462T= (p.Thr154=)
4g.87612649A=CA1474384541DSPPc.463A= (p.Asn155=)
4g.87612649A>CCA357603624DSPPc.463A>C (p.Asn155His)
4g.87612649A>GCA357603626DSPPc.463A>G (p.Asn155Asp)
dbSNP
4g.87612649A>TCA357603625DSPPc.463A>T (p.Asn155Tyr)
4g.87612650A>CCA357603627DSPPc.464A>C (p.Asn155Thr)
4g.87612650A>GCA357603628DSPPc.464A>G (p.Asn155Ser)
4g.87612650A>TCA357603629DSPPc.464A>T (p.Asn155Ile)
4g.87612651T>ACA357603630DSPPc.465T>A (p.Asn155Lys)
4g.87612651T>CCA440294237DSPPc.465T>C (p.Asn155=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.87612651T>GCA357603631DSPPc.465T>G (p.Asn155Lys)
4g.87612651T=CA1474384542DSPPc.465T= (p.Asn155=)
4g.87612652G>ACA357603632DSPPc.466G>A (p.Gly156Arg)
4g.87612652G>CCA357603633DSPPc.466G>C (p.Gly156Arg)
4g.87612652G>TCA357603634DSPPc.466G>T (p.Gly156Ter)
4g.87612653G>ACA357603635DSPPc.467G>A (p.Gly156Glu)
gnomAD v4 COSMIC
4g.87612653G>CCA357603636DSPPc.467G>C (p.Gly156Ala)
4g.87612653G>TCA357603637DSPPc.467G>T (p.Gly156Val)
4g.87612654A>CCA440294242DSPPc.468A>C (p.Gly156=)
COSMIC
4g.87612654A>GCA440294243DSPPc.468A>G (p.Gly156=)
4g.87612654A>TCA440294244DSPPc.468A>T (p.Gly156=)
4g.87612655A>CCA357603638DSPPc.469A>C (p.Asn157His)
COSMIC
4g.87612655A>GCA357603640DSPPc.469A>G (p.Asn157Asp)
4g.87612655A>TCA357603639DSPPc.469A>T (p.Asn157Tyr)
4g.87612656A>CCA357603641DSPPc.470A>C (p.Asn157Thr)
4g.87612656A>GCA357603642DSPPc.470A>G (p.Asn157Ser)
4g.87612656A>TCA357603643DSPPc.470A>T (p.Asn157Ile)
4g.87612657T>ACA357603644DSPPc.471T>A (p.Asn157Lys)
4g.87612657T>CCA440294250DSPPc.471T>C (p.Asn157=)
dbSNP gnomAD v2 gnomAD v4
4g.87612657T>GCA357603645DSPPc.471T>G (p.Asn157Lys)
4g.87612657T=CA1474384543DSPPc.471T= (p.Asn157=)
4g.87612658A>CCA357603646DSPPc.472A>C (p.Thr158Pro)
4g.87612658A>GCA357603647DSPPc.472A>G (p.Thr158Ala)
4g.87612658A>TCA357603648DSPPc.472A>T (p.Thr158Ser)
4g.87612658_87612659insAAATGAAATATATTACATCA2560114701DSPPc.472_473insAAATGAAATATATTACAT (p.Thr158delinsLysMetLysTyrIleThrSer)
4g.87612659C>ACA357603649DSPPc.473C>A (p.Thr158Asn)
4g.87612659C>GCA357603650DSPPc.473C>G (p.Thr158Ser)
4g.87612659C>TCA357603651DSPPc.473C>T (p.Thr158Ile)
gnomAD v4
4g.87612660T>ACA440294261DSPPc.474T>A (p.Thr158=)
4g.87612660T>CCA440294260DSPPc.474T>C (p.Thr158=)
4g.87612660T>GCA440294259DSPPc.474T>G (p.Thr158=)
4g.87612661G>ACA357603654DSPPc.475G>A (p.Asp159Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.87612661G>CCA357603653DSPPc.475G>C (p.Asp159His)
4g.87612661G=CA1474384544DSPPc.475G= (p.Asp159=)
4g.87612661G>TCA357603652DSPPc.475G>T (p.Asp159Tyr)
COSMIC
4g.87612662A=CA1474384545DSPPc.476A= (p.Asp159=)
4g.87612662A>CCA357603655DSPPc.476A>C (p.Asp159Ala)
4g.87612662A>GCA357603656DSPPc.476A>G (p.Asp159Gly)
dbSNP gnomAD v2 gnomAD v4
4g.87612662A>TCA357603657DSPPc.476A>T (p.Asp159Val)
4g.87612663T>ACA357603658DSPPc.477T>A (p.Asp159Glu)
gnomAD v4
4g.87612663T>CCA3000899DSPPc.477T>C (p.Asp159=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612663T>GCA357603659DSPPc.477T>G (p.Asp159Glu)
4g.87612663T=CA1474384546DSPPc.477T= (p.Asp159=)
4g.87612664A>CCA357603660DSPPc.478A>C (p.Lys160Gln)
4g.87612664A>GCA357603661DSPPc.478A>G (p.Lys160Glu)
4g.87612664A>TCA357603662DSPPc.478A>T (p.Lys160Ter)
4g.87612665A>CCA357603663DSPPc.479A>C (p.Lys160Thr)
4g.87612665A>GCA357603664DSPPc.479A>G (p.Lys160Arg)
4g.87612665A>TCA357603665DSPPc.479A>T (p.Lys160Met)
4g.87612666G>ACA440294382DSPPc.480G>A (p.Lys160=)
4g.87612666G>CCA357603667DSPPc.480G>C (p.Lys160Asn)
4g.87612666G>TCA357603666DSPPc.480G>T (p.Lys160Asn)
COSMIC
4g.87612667A>CCA357603668DSPPc.481A>C (p.Asn161His)
4g.87612667A>GCA357603669DSPPc.481A>G (p.Asn161Asp)
gnomAD v4
4g.87612667A>TCA357603670DSPPc.481A>T (p.Asn161Tyr)
4g.87612668A>CCA357603671DSPPc.482A>C (p.Asn161Thr)
4g.87612668A>GCA357603672DSPPc.482A>G (p.Asn161Ser)
gnomAD v4
4g.87612668A>TCA357603673DSPPc.482A>T (p.Asn161Ile)
4g.87612669T>ACA357603675DSPPc.483T>A (p.Asn161Lys)
4g.87612669T>CCA440294390DSPPc.483T>C (p.Asn161=)
ClinVar gnomAD v4
4g.87612669T>GCA357603674DSPPc.483T>G (p.Asn161Lys)
4g.87612670A>CCA357603676DSPPc.484A>C (p.Thr162Pro)
4g.87612670A>GCA357603677DSPPc.484A>G (p.Thr162Ala)
gnomAD v4
4g.87612670A>TCA357603678DSPPc.484A>T (p.Thr162Ser)
4g.87612671C>ACA357603679DSPPc.485C>A (p.Thr162Asn)
4g.87612671C>GCA357603680DSPPc.485C>G (p.Thr162Ser)
4g.87612671C>TCA357603681DSPPc.485C>T (p.Thr162Ile)
4g.87612672C>ACA440294392DSPPc.486C>A (p.Thr162=)
dbSNP gnomAD v4
4g.87612672C=CA1474384547DSPPc.486C= (p.Thr162=)
4g.87612672C>GCA440294391DSPPc.486C>G (p.Thr162=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.87612672C>TCA100849715DSPPc.486C>T (p.Thr162=)
dbSNP gnomAD v4
4g.87612673C>ACA357603684DSPPc.487C>A (p.Gln163Lys)
4g.87612673C=CA1474384548DSPPc.487C= (p.Gln163=)
4g.87612673C>GCA357603682DSPPc.487C>G (p.Gln163Glu)
4g.87612673C>TCA357603683DSPPc.487C>T (p.Gln163Ter)
dbSNP gnomAD v3 gnomAD v4
4g.87612674A>CCA357603685DSPPc.488A>C (p.Gln163Pro)
4g.87612674A>GCA357603686DSPPc.488A>G (p.Gln163Arg)
4g.87612674A>TCA357603687DSPPc.488A>T (p.Gln163Leu)
4g.87612675A=CA1474384549DSPPc.489A= (p.Gln163=)
4g.87612675A>CCA357603688DSPPc.489A>C (p.Gln163His)
4g.87612675A>GCA440294395DSPPc.489A>G (p.Gln163=)
dbSNP gnomAD v4
4g.87612675A>TCA357603689DSPPc.489A>T (p.Gln163His)
4g.87612676A>CCA357603690DSPPc.490A>C (p.Asn164His)
4g.87612676A>GCA357603691DSPPc.490A>G (p.Asn164Asp)
4g.87612676A>TCA357603692DSPPc.490A>T (p.Asn164Tyr)
4g.87612677A>CCA357603693DSPPc.491A>C (p.Asn164Thr)
4g.87612677A>GCA357603694DSPPc.491A>G (p.Asn164Ser)
4g.87612677A>TCA357603695DSPPc.491A>T (p.Asn164Ile)
4g.87612678T>ACA357603696DSPPc.492T>A (p.Asn164Lys)
4g.87612678T>CCA440294401DSPPc.492T>C (p.Asn164=)
ClinVar
4g.87612678T>GCA3000900DSPPc.492T>G (p.Asn164Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612678T=CA1474384550DSPPc.492T= (p.Asn164=)
4g.87612679G>ACA3000901DSPPc.493G>A (p.Gly165Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612679G>CCA357603698DSPPc.493G>C (p.Gly165Arg)
4g.87612679G=CA1474384551DSPPc.493G= (p.Gly165=)
4g.87612679G>TCA357603697DSPPc.493G>T (p.Gly165Trp)
gnomAD v4
4g.87612682dupCA100849721DSPPc.496dup (p.Asp166GlyfsTer9)
dbSNP
4g.87612680G>ACA357603699DSPPc.494G>A (p.Gly165Glu)
dbSNP gnomAD v3 gnomAD v4
4g.87612680G>CCA357603700DSPPc.494G>C (p.Gly165Ala)
4g.87612680G=CA1474384552DSPPc.494G= (p.Gly165=)
4g.87612680G>TCA357603701DSPPc.494G>T (p.Gly165Val)
COSMIC
4g.87612681G>ACA3000902DSPPc.495G>A (p.Gly165=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612681G>CCA440294406DSPPc.495G>C (p.Gly165=)
4g.87612681G=CA1474384553DSPPc.495G= (p.Gly165=)
4g.87612681G>TCA440294407DSPPc.495G>T (p.Gly165=)
4g.87612682G>ACA3000903DSPPc.496G>A (p.Asp166Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612682G>CCA357603702DSPPc.496G>C (p.Asp166His)
4g.87612682G=CA1474384554DSPPc.496G= (p.Asp166=)
4g.87612682G>TCA357603703DSPPc.496G>T (p.Asp166Tyr)
4g.87612683A=CA1474384555DSPPc.497A= (p.Asp166=)
4g.87612683A>CCA357603704DSPPc.497A>C (p.Asp166Ala)
4g.87612683A>GCA357603705DSPPc.497A>G (p.Asp166Gly)
4g.87612683A>TCA357603706DSPPc.497A>T (p.Asp166Val)
dbSNP
4g.87612684T>ACA357603708DSPPc.498T>A (p.Asp166Glu)
4g.87612684T>CCA3000904DSPPc.498T>C (p.Asp166=)
dbSNP ExAC
4g.87612684T>GCA357603707DSPPc.498T>G (p.Asp166Glu)
4g.87612684T=CA1474384556DSPPc.498T= (p.Asp166=)
4g.87612685G>ACA357603709DSPPc.499G>A (p.Val167Ile)
dbSNP gnomAD v4
4g.87612685G>CCA357603710DSPPc.499G>C (p.Val167Leu)
4g.87612685G=CA1474384557DSPPc.499G= (p.Val167=)
4g.87612685G>TCA357603711DSPPc.499G>T (p.Val167Phe)
COSMIC
4g.87612686T>ACA357603712DSPPc.500T>A (p.Val167Asp)
ClinVar dbSNP
4g.87612686T>CCA357603713DSPPc.500T>C (p.Val167Ala)
dbSNP
4g.87612686T>GCA357603714DSPPc.500T>G (p.Val167Gly)
gnomAD v4
4g.87612686T=CA1474384558DSPPc.500T= (p.Val167=)
4g.87612687T>ACA440294417DSPPc.501T>A (p.Val167=)
4g.87612687T>CCA440294418DSPPc.501T>C (p.Val167=)
4g.87612687T>GCA440294420DSPPc.501T>G (p.Val167=)
4g.87612688G>ACA3000905DSPPc.502G>A (p.Gly168Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612688G>CCA357603715DSPPc.502G>C (p.Gly168Arg)
4g.87612688G=CA1474384559DSPPc.502G= (p.Gly168=)
4g.87612688G>TCA357603716DSPPc.502G>T (p.Gly168Cys)
4g.87612689G>ACA357603717DSPPc.503G>A (p.Gly168Asp)
4g.87612689G>CCA3000906DSPPc.503G>C (p.Gly168Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612689G=CA1474384560DSPPc.503G= (p.Gly168=)
4g.87612689G>TCA357603718DSPPc.503G>T (p.Gly168Val)
4g.87612690C>ACA440294425DSPPc.504C>A (p.Gly168=)
gnomAD v4
4g.87612690C=CA1474384561DSPPc.504C= (p.Gly168=)
4g.87612690C>GCA440294426DSPPc.504C>G (p.Gly168=)
4g.87612690C>TCA3000907DSPPc.504C>T (p.Gly168=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612691G>ACA3000908DSPPc.505G>A (p.Asp169Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.87612691G>CCA357603720DSPPc.505G>C (p.Asp169His)
4g.87612691G=CA1474384562DSPPc.505G= (p.Asp169=)
4g.87612691G>TCA357603719DSPPc.505G>T (p.Asp169Tyr)
4g.87612692A=CA1474384563DSPPc.506A= (p.Asp169=)
4g.87612692A>CCA357603722DSPPc.506A>C (p.Asp169Ala)
4g.87612692A>GCA357603721DSPPc.506A>G (p.Asp169Gly)
gnomAD v4
4g.87612692A>TCA357603723DSPPc.506A>T (p.Asp169Val)
4g.87612693T>ACA357603724DSPPc.507T>A (p.Asp169Glu)
4g.87612693T>CCA440294428DSPPc.507T>C (p.Asp169=)
4g.87612693T>GCA357603725DSPPc.507T>G (p.Asp169Glu)
4g.87612693dupCA917246895DSPPc.507dup (p.Ala170CysfsTer5)
dbSNP
4g.87612694G>ACA357603726DSPPc.508G>A (p.Ala170Thr)
dbSNP gnomAD v2 gnomAD v4
4g.87612694G>CCA357603727DSPPc.508G>C (p.Ala170Pro)
4g.87612694G=CA1474384564DSPPc.508G= (p.Ala170=)
4g.87612694G>TCA357603728DSPPc.508G>T (p.Ala170Ser)
4g.87612695C>ACA357603729DSPPc.509C>A (p.Ala170Glu)
4g.87612695C>GCA357603730DSPPc.509C>G (p.Ala170Gly)
4g.87612695C>TCA357603731DSPPc.509C>T (p.Ala170Val)
4g.87612696A>CCA440294435DSPPc.510A>C (p.Ala170=)
4g.87612696A>GCA440294436DSPPc.510A>G (p.Ala170=)
4g.87612696A>TCA440294438DSPPc.510A>T (p.Ala170=)
4g.87612697G>ACA357603732DSPPc.511G>A (p.Gly171Ser)
4g.87612697G>CCA357603733DSPPc.511G>C (p.Gly171Arg)
4g.87612697G>TCA357603734DSPPc.511G>T (p.Gly171Cys)
4g.87612698G>ACA3000909DSPPc.512G>A (p.Gly171Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612698G>CCA357603735DSPPc.512G>C (p.Gly171Ala)
4g.87612698G=CA1474384565DSPPc.512G= (p.Gly171=)
4g.87612698G>TCA357603736DSPPc.512G>T (p.Gly171Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.87612699T>ACA440294439DSPPc.513T>A (p.Gly171=)
gnomAD v4
4g.87612699T>CCA440294440DSPPc.513T>C (p.Gly171=)
gnomAD v4
4g.87612699T>GCA440294441DSPPc.513T>G (p.Gly171=)
4g.87612700C>ACA357603737DSPPc.514C>A (p.His172Asn)
4g.87612700C>GCA357603738DSPPc.514C>G (p.His172Asp)
4g.87612700C>TCA357603739DSPPc.514C>T (p.His172Tyr)
4g.87612701A>CCA357603740DSPPc.515A>C (p.His172Pro)
4g.87612701A>GCA357603741DSPPc.515A>G (p.His172Arg)
4g.87612701A>TCA357603742DSPPc.515A>T (p.His172Leu)
4g.87612702C>ACA357603743DSPPc.516C>A (p.His172Gln)
4g.87612702C>GCA357603744DSPPc.516C>G (p.His172Gln)
4g.87612702C>TCA440294447DSPPc.516C>T (p.His172=)
4g.87612703A>CCA357603745DSPPc.517A>C (p.Asn173His)
4g.87612703A>GCA357603746DSPPc.517A>G (p.Asn173Asp)
gnomAD v4
4g.87612703A>TCA357603747DSPPc.517A>T (p.Asn173Tyr)
4g.87612704A>CCA357603749DSPPc.518A>C (p.Asn173Thr)
4g.87612704A>GCA357603750DSPPc.518A>G (p.Asn173Ser)
4g.87612704A>TCA357603748DSPPc.518A>T (p.Asn173Ile)
4g.87612705T>ACA357603751DSPPc.519T>A (p.Asn173Lys)
4g.87612705T>CCA440294451DSPPc.519T>C (p.Asn173=)
dbSNP gnomAD v4
4g.87612705T>GCA357603752DSPPc.519T>G (p.Asn173Lys)
gnomAD v4
4g.87612706G>ACA357603753DSPPc.520G>A (p.Glu174Lys)
gnomAD v4
4g.87612706G>CCA357603754DSPPc.520G>C (p.Glu174Gln)
4g.87612706G>TCA357603755DSPPc.520G>T (p.Glu174Ter)
4g.87612707A>CCA357603758DSPPc.521A>C (p.Glu174Ala)
4g.87612707A>GCA357603757DSPPc.521A>G (p.Glu174Gly)
4g.87612707A>TCA357603756DSPPc.521A>T (p.Glu174Val)
4g.87612708G>ACA3000910DSPPc.522G>A (p.Glu174=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612708G>CCA357603759DSPPc.522G>C (p.Glu174Asp)
4g.87612708G=CA1474384566DSPPc.522G= (p.Glu174=)
4g.87612708G>TCA357603760DSPPc.522G>T (p.Glu174Asp)
4g.87612709G>ACA357603761DSPPc.523G>A (p.Asp175Asn)
4g.87612709G>CCA357603762DSPPc.523G>C (p.Asp175His)
4g.87612709G=CA1474384567DSPPc.523G= (p.Asp175=)
4g.87612709G>TCA3000911DSPPc.523G>T (p.Asp175Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.87612710A=CA1474384568DSPPc.524A= (p.Asp175=)
4g.87612710A>CCA357603763DSPPc.524A>C (p.Asp175Ala)
4g.87612710A>GCA357603765DSPPc.524A>G (p.Asp175Gly)
4g.87612710A>TCA357603764DSPPc.524A>T (p.Asp175Val)
dbSNP gnomAD v4
4g.87612711T>ACA357603766DSPPc.525T>A (p.Asp175Glu)
4g.87612711T>CCA440294465DSPPc.525T>C (p.Asp175=)
4g.87612711T>GCA357603767DSPPc.525T>G (p.Asp175Glu)
4g.87612712G>ACA357603768DSPPc.526G>A (p.Val176Ile)
gnomAD v4
4g.87612712G>CCA357603769DSPPc.526G>C (p.Val176Leu)
4g.87612712G>TCA357603770DSPPc.526G>T (p.Val176Phe)
gnomAD v4
4g.87612713T>ACA3000912DSPPc.527T>A (p.Val176Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612713T>CCA357603771DSPPc.527T>C (p.Val176Ala)
4g.87612713T>GCA357603772DSPPc.527T>G (p.Val176Gly)
4g.87612713T=CA1474384569DSPPc.527T= (p.Val176=)
4g.87612714C>ACA440294470DSPPc.528C>A (p.Val176=)
dbSNP
4g.87612714C=CA1474384570DSPPc.528C= (p.Val176=)
4g.87612714C>GCA440294471DSPPc.528C>G (p.Val176=)
gnomAD v4
4g.87612714C>TCA3000913DSPPc.528C>T (p.Val176=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.87612715G>ACA3000914DSPPc.529G>A (p.Ala177Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.87612715G>CCA357603773DSPPc.529G>C (p.Ala177Pro)
4g.87612715G=CA1474384571DSPPc.529G= (p.Ala177=)
4g.87612715G>TCA357603774DSPPc.529G>T (p.Ala177Ser)
4g.87612716C>ACA357603776DSPPc.530C>A (p.Ala177Asp)
4g.87612716C>GCA357603777DSPPc.530C>G (p.Ala177Gly)
4g.87612716C>TCA357603775DSPPc.530C>T (p.Ala177Val)
gnomAD v4
4g.87612717T>ACA440294473DSPPc.531T>A (p.Ala177=)
4g.87612717T>CCA440294474DSPPc.531T>C (p.Ala177=)
4g.87612717T>GCA440294475DSPPc.531T>G (p.Ala177=)
4g.87612718G>ACA357603780DSPPc.532G>A (p.Val178Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.87612718G>CCA357603778DSPPc.532G>C (p.Val178Leu)
4g.87612718G=CA1474384572DSPPc.532G= (p.Val178=)
4g.87612718G>TCA357603779DSPPc.532G>T (p.Val178Phe)
4g.87612719T>ACA357603781DSPPc.533T>A (p.Val178Asp)
4g.87612719T>CCA357603782DSPPc.533T>C (p.Val178Ala)
4g.87612719T>GCA357603783DSPPc.533T>G (p.Val178Gly)
4g.87612720T>ACA440294478DSPPc.534T>A (p.Val178=)
4g.87612720T>CCA440294480DSPPc.534T>C (p.Val178=)
4g.87612720T>GCA440294482DSPPc.534T>G (p.Val178=)
4g.87612721G>ACA357603784DSPPc.535G>A (p.Val179Ile)
gnomAD v4
4g.87612721G>CCA357603785DSPPc.535G>C (p.Val179Leu)
gnomAD v4
4g.87612721G>TCA357603786DSPPc.535G>T (p.Val179Phe)
gnomAD v4

Number of alleles fetched