Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.134200705C>ACA441362015PABPC4Lc.315G>T (p.Leu105=)
c.489G>T (p.Leu163=)
n.854G>T
n.849G>T
4g.134200705C>GCA441362016PABPC4Lc.315G>C (p.Leu105=)
c.489G>C (p.Leu163=)
n.854G>C
n.849G>C
4g.134200705C>TCA441362017PABPC4Lc.315G>A (p.Leu105=)
c.489G>A (p.Leu163=)
n.854G>A
n.849G>A
4g.134200706A>CCA358375349PABPC4Lc.314T>G (p.Leu105Arg)
c.488T>G (p.Leu163Arg)
n.853T>G
n.848T>G
 gnomAD v4
4g.134200706A>GCA358375348PABPC4Lc.314T>C (p.Leu105Pro)
c.488T>C (p.Leu163Pro)
n.853T>C
n.848T>C
4g.134200706A>TCA358375347PABPC4Lc.314T>A (p.Leu105Gln)
c.488T>A (p.Leu163Gln)
n.853T>A
n.848T>A
4g.134200707G>ACA441362018PABPC4Lc.313C>T (p.Leu105=)
c.487C>T (p.Leu163=)
n.852C>T
n.847C>T
4g.134200707G>CCA358375351PABPC4Lc.313C>G (p.Leu105Val)
c.487C>G (p.Leu163Val)
n.852C>G
n.847C>G
4g.134200707G=CA1495814932PABPC4Lc.313C= (p.Leu105=)
c.487C= (p.Leu163=)
n.852C=
n.847C=
4g.134200707G>TCA358375350PABPC4Lc.313C>A (p.Leu105Met)
c.487C>A (p.Leu163Met)
n.852C>A
n.847C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200708A>CCA358375352PABPC4Lc.312T>G (p.Asn104Lys)
c.486T>G (p.Asn162Lys)
n.851T>G
n.846T>G
4g.134200708A>GCA441362019PABPC4Lc.312T>C (p.Asn104=)
c.486T>C (p.Asn162=)
n.851T>C
n.846T>C
4g.134200708A>TCA358375353PABPC4Lc.312T>A (p.Asn104Lys)
c.486T>A (p.Asn162Lys)
n.851T>A
n.846T>A
4g.134200710_134200711insTGTCCGTATTCA2763628674PABPC4Lc.312_313insACGGACAAAT (p.Leu105ThrfsTer10)
c.486_487insACGGACAAAT (p.Leu163ThrfsTer10)
n.851_852insACGGACAAAT
n.846_847insACGGACAAAT
4g.134200709T>ACA358375354PABPC4Lc.311A>T (p.Asn104Ile)
c.485A>T (p.Asn162Ile)
n.850A>T
n.845A>T
4g.134200709T>CCA358375355PABPC4Lc.311A>G (p.Asn104Ser)
c.485A>G (p.Asn162Ser)
n.850A>G
n.845A>G
4g.134200709T>GCA358375356PABPC4Lc.311A>C (p.Asn104Thr)
c.485A>C (p.Asn162Thr)
n.850A>C
n.845A>C
4g.134200710T>ACA358375359PABPC4Lc.310A>T (p.Asn104Tyr)
c.484A>T (p.Asn162Tyr)
n.849A>T
n.844A>T
4g.134200710T>CCA358375357PABPC4Lc.310A>G (p.Asn104Asp)
c.484A>G (p.Asn162Asp)
n.849A>G
n.844A>G
4g.134200710T>GCA358375358PABPC4Lc.310A>C (p.Asn104His)
c.484A>C (p.Asn162His)
n.849A>C
n.844A>C
4g.134200711C>ACA358375360PABPC4Lc.309G>T (p.Lys103Asn)
c.483G>T (p.Lys161Asn)
n.848G>T
n.843G>T
 COSMIC COSMIC
4g.134200711C=CA1495814935PABPC4Lc.309G= (p.Lys103=)
c.483G= (p.Lys161=)
n.848G=
n.843G=
4g.134200711C>GCA358375361PABPC4Lc.309G>C (p.Lys103Asn)
c.483G>C (p.Lys161Asn)
n.848G>C
n.843G>C
 dbSNP gnomAD v4
4g.134200711C>TCA441362020PABPC4Lc.309G>A (p.Lys103=)
c.483G>A (p.Lys161=)
n.848G>A
n.843G>A
4g.134200712T>ACA106325813PABPC4Lc.308A>T (p.Lys103Met)
c.482A>T (p.Lys161Met)
n.847A>T
n.842A>T
 dbSNP
4g.134200712T>CCA358375362PABPC4Lc.308A>G (p.Lys103Arg)
c.482A>G (p.Lys161Arg)
n.847A>G
n.842A>G
4g.134200712T>GCA358375363PABPC4Lc.308A>C (p.Lys103Thr)
c.482A>C (p.Lys161Thr)
n.847A>C
n.842A>C
4g.134200712T=CA1495814938PABPC4Lc.308A= (p.Lys103=)
c.482A= (p.Lys161=)
n.847A=
n.842A=
4g.134200713T>ACA358375364PABPC4Lc.307A>T (p.Lys103Ter)
c.481A>T (p.Lys161Ter)
n.846A>T
n.841A>T
4g.134200713T>CCA358375366PABPC4Lc.307A>G (p.Lys103Glu)
c.481A>G (p.Lys161Glu)
n.846A>G
n.841A>G
4g.134200713T>GCA358375365PABPC4Lc.307A>C (p.Lys103Gln)
c.481A>C (p.Lys161Gln)
n.846A>C
n.841A>C
4g.134200714G>ACA441362021PABPC4Lc.306C>T (p.Ile102=)
c.480C>T (p.Ile160=)
n.845C>T
n.840C>T
4g.134200714G>CCA358375367PABPC4Lc.306C>G (p.Ile102Met)
c.480C>G (p.Ile160Met)
n.845C>G
n.840C>G
4g.134200714G=CA1495814941PABPC4Lc.306C= (p.Ile102=)
c.480C= (p.Ile160=)
n.845C=
n.840C=
4g.134200714G>TCA441362022PABPC4Lc.306C>A (p.Ile102=)
c.480C>A (p.Ile160=)
n.845C>A
n.840C>A
4g.134200715A>CCA358375368PABPC4Lc.305T>G (p.Ile102Ser)
c.479T>G (p.Ile160Ser)
n.844T>G
n.839T>G
4g.134200715A>GCA358375369PABPC4Lc.305T>C (p.Ile102Thr)
c.479T>C (p.Ile160Thr)
n.844T>C
n.839T>C
4g.134200715A>TCA358375370PABPC4Lc.305T>A (p.Ile102Asn)
c.479T>A (p.Ile160Asn)
n.844T>A
n.839T>A
4g.134200715dupCA555019085PABPC4Lc.305dup (p.Lys103GlnfsTer9)
c.479dup (p.Lys161GlnfsTer9)
n.844dup
n.839dup
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>ACA358375371PABPC4Lc.304A>T (p.Ile102Phe)
c.478A>T (p.Ile160Phe)
n.843A>T
n.838A>T
4g.134200716T>CCA358375372PABPC4Lc.304A>G (p.Ile102Val)
c.478A>G (p.Ile160Val)
n.843A>G
n.838A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>GCA358375373PABPC4Lc.304A>C (p.Ile102Leu)
c.478A>C (p.Ile160Leu)
n.843A>C
n.838A>C
4g.134200716T=CA1495814947PABPC4Lc.304A= (p.Ile102=)
c.478A= (p.Ile160=)
n.843A=
n.838A=
4g.134200717G>ACA441362023PABPC4Lc.303C>T (p.Phe101=)
c.477C>T (p.Phe159=)
n.842C>T
n.837C>T
4g.134200717G>CCA358375374PABPC4Lc.303C>G (p.Phe101Leu)
c.477C>G (p.Phe159Leu)
n.842C>G
n.837C>G
4g.134200717G>TCA358375375PABPC4Lc.303C>A (p.Phe101Leu)
c.477C>A (p.Phe159Leu)
n.842C>A
n.837C>A
4g.134200718A>CCA358375376PABPC4Lc.302T>G (p.Phe101Cys)
c.476T>G (p.Phe159Cys)
n.841T>G
n.836T>G
4g.134200718A>GCA358375377PABPC4Lc.302T>C (p.Phe101Ser)
c.476T>C (p.Phe159Ser)
n.841T>C
n.836T>C
4g.134200718A>TCA358375378PABPC4Lc.302T>A (p.Phe101Tyr)
c.476T>A (p.Phe159Tyr)
n.841T>A
n.836T>A
4g.134200719A>CCA358375380PABPC4Lc.301T>G (p.Phe101Val)
c.475T>G (p.Phe159Val)
n.840T>G
n.835T>G
4g.134200719A>GCA358375381PABPC4Lc.301T>C (p.Phe101Leu)
c.475T>C (p.Phe159Leu)
n.840T>C
n.835T>C
 COSMIC COSMIC
4g.134200719A>TCA358375379PABPC4Lc.301T>A (p.Phe101Ile)
c.475T>A (p.Phe159Ile)
n.840T>A
n.835T>A
4g.134200720T>ACA441362026PABPC4Lc.300A>T (p.Val100=)
c.474A>T (p.Val158=)
n.839A>T
n.834A>T
4g.134200720T>CCA441362025PABPC4Lc.300A>G (p.Val100=)
c.474A>G (p.Val158=)
n.839A>G
n.834A>G
 gnomAD v4
4g.134200720T>GCA441362024PABPC4Lc.300A>C (p.Val100=)
c.474A>C (p.Val158=)
n.839A>C
n.834A>C
4g.134200721A=CA1495814949PABPC4Lc.299T= (p.Val100=)
c.473T= (p.Val158=)
n.838T=
n.833T=
4g.134200721A>CCA358375382PABPC4Lc.299T>G (p.Val100Gly)
c.473T>G (p.Val158Gly)
n.838T>G
n.833T>G
4g.134200721A>GCA3081075PABPC4Lc.299T>C (p.Val100Ala)
c.473T>C (p.Val158Ala)
n.838T>C
n.833T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200721A>TCA358375383PABPC4Lc.299T>A (p.Val100Glu)
c.473T>A (p.Val158Glu)
n.838T>A
n.833T>A
4g.134200722C>ACA358375384PABPC4Lc.298G>T (p.Val100Leu)
c.472G>T (p.Val158Leu)
n.837G>T
n.832G>T
4g.134200722C=CA1495814955PABPC4Lc.298G= (p.Val100=)
c.472G= (p.Val158=)
n.837G=
n.832G=
4g.134200722C>GCA358375385PABPC4Lc.298G>C (p.Val100Leu)
c.472G>C (p.Val158Leu)
n.837G>C
n.832G>C
4g.134200722C>TCA106325816PABPC4Lc.298G>A (p.Val100Ile)
c.472G>A (p.Val158Ile)
n.837G>A
n.832G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200723G>ACA441362027PABPC4Lc.297C>T (p.Asn99=)
c.471C>T (p.Asn157=)
n.836C>T
n.831C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200723G>CCA358375386PABPC4Lc.297C>G (p.Asn99Lys)
c.471C>G (p.Asn157Lys)
n.836C>G
n.831C>G
 dbSNP gnomAD v4
4g.134200723G=CA1495814962PABPC4Lc.297C= (p.Asn99=)
c.471C= (p.Asn157=)
n.836C=
n.831C=
4g.134200723G>TCA358375387PABPC4Lc.297C>A (p.Asn99Lys)
c.471C>A (p.Asn157Lys)
n.836C>A
n.831C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200724T>ACA358375388PABPC4Lc.296A>T (p.Asn99Ile)
c.470A>T (p.Asn157Ile)
n.835A>T
n.830A>T
4g.134200724T>CCA358375389PABPC4Lc.296A>G (p.Asn99Ser)
c.470A>G (p.Asn157Ser)
n.835A>G
n.830A>G
4g.134200724T>GCA358375390PABPC4Lc.296A>C (p.Asn99Thr)
c.470A>C (p.Asn157Thr)
n.835A>C
n.830A>C
4g.134200725T>ACA358375391PABPC4Lc.295A>T (p.Asn99Tyr)
c.469A>T (p.Asn157Tyr)
n.834A>T
n.829A>T
4g.134200725T>CCA358375392PABPC4Lc.295A>G (p.Asn99Asp)
c.469A>G (p.Asn157Asp)
n.834A>G
n.829A>G
 COSMIC COSMIC
4g.134200725T>GCA358375393PABPC4Lc.295A>C (p.Asn99His)
c.469A>C (p.Asn157His)
n.834A>C
n.829A>C
4g.134200726C>ACA441362028PABPC4Lc.294G>T (p.Gly98=)
c.468G>T (p.Gly156=)
n.833G>T
n.828G>T
 dbSNP gnomAD v4
4g.134200726C>GCA441362029PABPC4Lc.294G>C (p.Gly98=)
c.468G>C (p.Gly156=)
n.833G>C
n.828G>C
4g.134200726C>TCA441362030PABPC4Lc.294G>A (p.Gly98=)
c.468G>A (p.Gly156=)
n.833G>A
n.828G>A
4g.134200728delCA2763628675PABPC4Lc.294del (p.Asn99ThrfsTer?)
c.468del (p.Asn157ThrfsTer?)
n.833del
n.828del
4g.134200727C>ACA358375396PABPC4Lc.293G>T (p.Gly98Val)
c.467G>T (p.Gly156Val)
n.832G>T
n.827G>T
4g.134200727C>GCA358375394PABPC4Lc.293G>C (p.Gly98Ala)
c.467G>C (p.Gly156Ala)
n.832G>C
n.827G>C
4g.134200727C>TCA358375395PABPC4Lc.293G>A (p.Gly98Glu)
c.467G>A (p.Gly156Glu)
n.832G>A
n.827G>A
4g.134200728C>ACA358375397PABPC4Lc.292G>T (p.Gly98Trp)
c.466G>T (p.Gly156Trp)
n.831G>T
n.826G>T
4g.134200728C>GCA358375398PABPC4Lc.292G>C (p.Gly98Arg)
c.466G>C (p.Gly156Arg)
n.831G>C
n.826G>C
4g.134200728C>TCA358375399PABPC4Lc.292G>A (p.Gly98Arg)
c.466G>A (p.Gly156Arg)
n.831G>A
n.826G>A
 dbSNP
4g.134200729A>CCA358375400PABPC4Lc.291T>G (p.Ile97Met)
c.465T>G (p.Ile155Met)
n.830T>G
n.825T>G
4g.134200729A>GCA441362031PABPC4Lc.291T>C (p.Ile97=)
c.465T>C (p.Ile155=)
n.830T>C
n.825T>C
4g.134200729A>TCA441362032PABPC4Lc.291T>A (p.Ile97=)
c.465T>A (p.Ile155=)
n.830T>A
n.825T>A
 gnomAD v4
4g.134200730A>CCA358375401PABPC4Lc.290T>G (p.Ile97Ser)
c.464T>G (p.Ile155Ser)
n.829T>G
n.824T>G
4g.134200730A>GCA358375402PABPC4Lc.290T>C (p.Ile97Thr)
c.464T>C (p.Ile155Thr)
n.829T>C
n.824T>C
 gnomAD v4
4g.134200730A>TCA358375403PABPC4Lc.290T>A (p.Ile97Asn)
c.464T>A (p.Ile155Asn)
n.829T>A
n.824T>A
4g.134200731T>ACA358375404PABPC4Lc.289A>T (p.Ile97Phe)
c.463A>T (p.Ile155Phe)
n.828A>T
n.823A>T
4g.134200731T>CCA358375405PABPC4Lc.289A>G (p.Ile97Val)
c.463A>G (p.Ile155Val)
n.828A>G
n.823A>G
4g.134200731T>GCA3081076PABPC4Lc.289A>C (p.Ile97Leu)
c.463A>C (p.Ile155Leu)
n.828A>C
n.823A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200731T=CA1495814968PABPC4Lc.289A= (p.Ile97=)
c.463A= (p.Ile155=)
n.828A=
n.823A=
4g.134200732T>ACA441362033PABPC4Lc.288A>T (p.Gly96=)
c.462A>T (p.Gly154=)
n.827A>T
n.822A>T
4g.134200732T>CCA441362034PABPC4Lc.288A>G (p.Gly96=)
c.462A>G (p.Gly154=)
n.827A>G
n.822A>G
4g.134200732T>GCA441362035PABPC4Lc.288A>C (p.Gly96=)
c.462A>C (p.Gly154=)
n.827A>C
n.822A>C
4g.134200733C>ACA358375407PABPC4Lc.287G>T (p.Gly96Val)
c.461G>T (p.Gly154Val)
n.826G>T
n.821G>T
4g.134200733C>GCA358375408PABPC4Lc.287G>C (p.Gly96Ala)
c.461G>C (p.Gly154Ala)
n.826G>C
n.821G>C
4g.134200733C>TCA358375406PABPC4Lc.287G>A (p.Gly96Glu)
c.461G>A (p.Gly154Glu)
n.826G>A
n.821G>A
4g.134200734C>ACA358375409PABPC4Lc.286G>T (p.Gly96Ter)
c.460G>T (p.Gly154Ter)
n.825G>T
n.820G>T
4g.134200734C=CA1495814972PABPC4Lc.286G= (p.Gly96=)
c.460G= (p.Gly154=)
n.825G=
n.820G=
4g.134200734C>GCA358375410PABPC4Lc.286G>C (p.Gly96Arg)
c.460G>C (p.Gly154Arg)
n.825G>C
n.820G>C
4g.134200734C>TCA358375411PABPC4Lc.286G>A (p.Gly96Arg)
c.460G>A (p.Gly154Arg)
n.825G>A
n.820G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200735A>CCA441362038PABPC4Lc.285T>G (p.Ser95=)
c.459T>G (p.Ser153=)
n.824T>G
n.819T>G
4g.134200735A>GCA441362037PABPC4Lc.285T>C (p.Ser95=)
c.459T>C (p.Ser153=)
n.824T>C
n.819T>C
4g.134200735A>TCA441362036PABPC4Lc.285T>A (p.Ser95=)
c.459T>A (p.Ser153=)
n.824T>A
n.819T>A
4g.134200735_134200736insTCA2672091055PABPC4Lc.284_285insA (p.Gly96TrpfsTer16)
c.458_459insA (p.Gly154TrpfsTer16)
n.823_824insA
n.818_819insA
 gnomAD v4
4g.134200736G>ACA358375412PABPC4Lc.284C>T (p.Ser95Phe)
c.458C>T (p.Ser153Phe)
n.823C>T
n.818C>T
4g.134200736G>CCA358375413PABPC4Lc.284C>G (p.Ser95Cys)
c.458C>G (p.Ser153Cys)
n.823C>G
n.818C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200736G=CA1495814975PABPC4Lc.284C= (p.Ser95=)
c.458C= (p.Ser153=)
n.823C=
n.818C=
4g.134200736G>TCA358375414PABPC4Lc.284C>A (p.Ser95Tyr)
c.458C>A (p.Ser153Tyr)
n.823C>A
n.818C>A
4g.134200736_134200737insCCACCATGCCAGGCTATTTATTTATTTCA2672091056PABPC4Lc.283_284insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser95Ter)
c.457_458insAAATAAATAAATAGCCTGGCATGGTGG (p.Ser153Ter)
n.822_823insAAATAAATAAATAGCCTGGCATGGTGG
n.817_818insAAATAAATAAATAGCCTGGCATGGTGG
 gnomAD v4
4g.134200737A=CA1495814979PABPC4Lc.283T= (p.Ser95=)
c.457T= (p.Ser153=)
n.822T=
n.817T=
4g.134200737A>CCA358375415PABPC4Lc.283T>G (p.Ser95Ala)
c.457T>G (p.Ser153Ala)
n.822T>G
n.817T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200737A>GCA358375416PABPC4Lc.283T>C (p.Ser95Pro)
c.457T>C (p.Ser153Pro)
n.822T>C
n.817T>C
 gnomAD v4
4g.134200737A>TCA358375417PABPC4Lc.283T>A (p.Ser95Thr)
c.457T>A (p.Ser153Thr)
n.822T>A
n.817T>A
4g.134200738T>ACA358375418PABPC4Lc.282A>T (p.Arg94Ser)
c.456A>T (p.Arg152Ser)
n.821A>T
n.816A>T
 gnomAD v4
4g.134200738T>CCA441362039PABPC4Lc.282A>G (p.Arg94=)
c.456A>G (p.Arg152=)
n.821A>G
n.816A>G
4g.134200738T>GCA358375419PABPC4Lc.282A>C (p.Arg94Ser)
c.456A>C (p.Arg152Ser)
n.821A>C
n.816A>C
4g.134200738_134200741delinsTCTCCA1495814984PABPC4Lc.279_282delinsGAGA (p.Arg93=)
c.453_456delinsGAGA (p.Arg151=)
n.818_821delinsGAGA
n.813_816delinsGAGA
4g.134200739C>ACA358375420PABPC4Lc.281G>T (p.Arg94Ile)
c.455G>T (p.Arg152Ile)
n.820G>T
n.815G>T
 dbSNP
4g.134200739C=CA1495814987PABPC4Lc.281G= (p.Arg94=)
c.455G= (p.Arg152=)
n.820G=
n.815G=
4g.134200739C>GCA358375421PABPC4Lc.281G>C (p.Arg94Thr)
c.455G>C (p.Arg152Thr)
n.820G>C
n.815G>C
4g.134200739C>TCA3081078PABPC4Lc.281G>A (p.Arg94Lys)
c.455G>A (p.Arg152Lys)
n.820G>A
n.815G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200742_134200744delCA3081077PABPC4Lc.279_281del (p.Arg94del)
c.453_455del (p.Arg152del)
n.818_820del
n.813_815del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200740T>ACA358375422PABPC4Lc.280A>T (p.Arg94Ter)
c.454A>T (p.Arg152Ter)
n.819A>T
n.814A>T
4g.134200740T>CCA358375423PABPC4Lc.280A>G (p.Arg94Gly)
c.454A>G (p.Arg152Gly)
n.819A>G
n.814A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200740T>GCA441362040PABPC4Lc.280A>C (p.Arg94=)
c.454A>C (p.Arg152=)
n.819A>C
n.814A>C
4g.134200740T=CA1495814991PABPC4Lc.280A= (p.Arg94=)
c.454A= (p.Arg152=)
n.819A=
n.814A=
4g.134200741C>ACA358375424PABPC4Lc.279G>T (p.Arg93Ser)
c.453G>T (p.Arg151Ser)
n.818G>T
n.813G>T
 gnomAD v4
4g.134200741C=CA1495814994PABPC4Lc.279G= (p.Arg93=)
c.453G= (p.Arg151=)
n.818G=
n.813G=
4g.134200741C>GCA358375425PABPC4Lc.279G>C (p.Arg93Ser)
c.453G>C (p.Arg151Ser)
n.818G>C
n.813G>C
4g.134200741C>TCA106325821PABPC4Lc.279G>A (p.Arg93=)
c.453G>A (p.Arg151=)
n.818G>A
n.813G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200742C>ACA358375428PABPC4Lc.278G>T (p.Arg93Met)
c.452G>T (p.Arg151Met)
n.817G>T
n.812G>T
 gnomAD v4
4g.134200742C>GCA358375427PABPC4Lc.278G>C (p.Arg93Thr)
c.452G>C (p.Arg151Thr)
n.817G>C
n.812G>C
4g.134200742C>TCA358375426PABPC4Lc.278G>A (p.Arg93Lys)
c.452G>A (p.Arg151Lys)
n.817G>A
n.812G>A
 gnomAD v4
4g.134200743T>ACA358375429PABPC4Lc.277A>T (p.Arg93Trp)
c.451A>T (p.Arg151Trp)
n.816A>T
n.811A>T
4g.134200743T>CCA358375430PABPC4Lc.277A>G (p.Arg93Gly)
c.451A>G (p.Arg151Gly)
n.816A>G
n.811A>G
4g.134200743T>GCA441362041PABPC4Lc.277A>C (p.Arg93=)
c.451A>C (p.Arg151=)
n.816A>C
n.811A>C
 gnomAD v4
4g.134200744C>ACA358375431PABPC4Lc.276G>T (p.Leu92Phe)
c.450G>T (p.Leu150Phe)
n.815G>T
n.810G>T
 COSMIC COSMIC
4g.134200744C=CA1495814997PABPC4Lc.276G= (p.Leu92=)
c.450G= (p.Leu150=)
n.815G=
n.810G=
4g.134200744C>GCA358375432PABPC4Lc.276G>C (p.Leu92Phe)
c.450G>C (p.Leu150Phe)
n.815G>C
n.810G>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200744C>TCA441362042PABPC4Lc.276G>A (p.Leu92=)
c.450G>A (p.Leu150=)
n.815G>A
n.810G>A
 COSMIC COSMIC
4g.134200745A>CCA358375433PABPC4Lc.275T>G (p.Leu92Trp)
c.449T>G (p.Leu150Trp)
n.814T>G
n.809T>G
4g.134200745A>GCA358375434PABPC4Lc.275T>C (p.Leu92Ser)
c.449T>C (p.Leu150Ser)
n.814T>C
n.809T>C
4g.134200745A>TCA358375435PABPC4Lc.275T>A (p.Leu92Ter)
c.449T>A (p.Leu150Ter)
n.814T>A
n.809T>A
4g.134200746A>CCA358375436PABPC4Lc.274T>G (p.Leu92Val)
c.448T>G (p.Leu150Val)
n.813T>G
n.808T>G
4g.134200746A>GCA441362043PABPC4Lc.274T>C (p.Leu92=)
c.448T>C (p.Leu150=)
n.813T>C
n.808T>C
 gnomAD v4
4g.134200746A>TCA358375437PABPC4Lc.274T>A (p.Leu92Met)
c.448T>A (p.Leu150Met)
n.813T>A
n.808T>A
4g.134200746_134200747insACACCCAAACACACCCAACACACA2763628676PABPC4Lc.274_275insGTGTTGGGTGTGTTTGGGTGTT (p.Leu92CysfsTer27)
c.448_449insGTGTTGGGTGTGTTTGGGTGTT (p.Leu150CysfsTer27)
n.813_814insGTGTTGGGTGTGTTTGGGTGTT
n.808_809insGTGTTGGGTGTGTTTGGGTGTT
4g.134200747G>ACA441362044PABPC4Lc.273C>T (p.Tyr91=)
c.447C>T (p.Tyr149=)
n.812C>T
n.807C>T
4g.134200747G>CCA358375438PABPC4Lc.273C>G (p.Tyr91Ter)
c.447C>G (p.Tyr149Ter)
n.812C>G
n.807C>G
4g.134200747G>TCA358375439PABPC4Lc.273C>A (p.Tyr91Ter)
c.447C>A (p.Tyr149Ter)
n.812C>A
n.807C>A
4g.134200748T>ACA358375440PABPC4Lc.272A>T (p.Tyr91Phe)
c.446A>T (p.Tyr149Phe)
n.811A>T
n.806A>T
4g.134200748T>CCA358375442PABPC4Lc.272A>G (p.Tyr91Cys)
c.446A>G (p.Tyr149Cys)
n.811A>G
n.806A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200748T>GCA358375441PABPC4Lc.272A>C (p.Tyr91Ser)
c.446A>C (p.Tyr149Ser)
n.811A>C
n.806A>C
 dbSNP gnomAD v4
4g.134200748T=CA1495814998PABPC4Lc.272A= (p.Tyr91=)
c.446A= (p.Tyr149=)
n.811A=
n.806A=
4g.134200749A=CA1495815001PABPC4Lc.271T= (p.Tyr91=)
c.445T= (p.Tyr149=)
n.810T=
n.805T=
4g.134200749A>CCA358375443PABPC4Lc.271T>G (p.Tyr91Asp)
c.445T>G (p.Tyr149Asp)
n.810T>G
n.805T>G
4g.134200749A>GCA106325823PABPC4Lc.271T>C (p.Tyr91His)
c.445T>C (p.Tyr149His)
n.810T>C
n.805T>C
 dbSNP
4g.134200749A>TCA358375444PABPC4Lc.271T>A (p.Tyr91Asn)
c.445T>A (p.Tyr149Asn)
n.810T>A
n.805T>A
4g.134200750G>ACA441362045PABPC4Lc.270C>T (p.Ala90=)
c.444C>T (p.Ala148=)
n.809C>T
n.804C>T
 gnomAD v4
4g.134200750G>CCA441362046PABPC4Lc.270C>G (p.Ala90=)
c.444C>G (p.Ala148=)
n.809C>G
n.804C>G
 gnomAD v4
4g.134200750G>TCA441362047PABPC4Lc.270C>A (p.Ala90=)
c.444C>A (p.Ala148=)
n.809C>A
n.804C>A
4g.134200751G>ACA358375445PABPC4Lc.269C>T (p.Ala90Val)
c.443C>T (p.Ala148Val)
n.808C>T
n.803C>T
 gnomAD v4
4g.134200751G>CCA358375447PABPC4Lc.269C>G (p.Ala90Gly)
c.443C>G (p.Ala148Gly)
n.808C>G
n.803C>G
4g.134200751G>TCA358375446PABPC4Lc.269C>A (p.Ala90Asp)
c.443C>A (p.Ala148Asp)
n.808C>A
n.803C>A
4g.134200752C>ACA358375448PABPC4Lc.268G>T (p.Ala90Ser)
c.442G>T (p.Ala148Ser)
n.807G>T
n.802G>T
4g.134200752C=CA1495815003PABPC4Lc.268G= (p.Ala90=)
c.442G= (p.Ala148=)
n.807G=
n.802G=
4g.134200752C>GCA358375449PABPC4Lc.268G>C (p.Ala90Pro)
c.442G>C (p.Ala148Pro)
n.807G>C
n.802G>C
4g.134200752C>TCA358375450PABPC4Lc.268G>A (p.Ala90Thr)
c.442G>A (p.Ala148Thr)
n.807G>A
n.802G>A
 gnomAD v4
4g.134200753A>CCA358375451PABPC4Lc.267T>G (p.Asp89Glu)
c.441T>G (p.Asp147Glu)
n.806T>G
n.801T>G
4g.134200753A>GCA441362048PABPC4Lc.267T>C (p.Asp89=)
c.441T>C (p.Asp147=)
n.806T>C
n.801T>C
4g.134200753A>TCA358375452PABPC4Lc.267T>A (p.Asp89Glu)
c.441T>A (p.Asp147Glu)
n.806T>A
n.801T>A
4g.134200753dupCA787526460PABPC4Lc.267dup (p.Ala90CysfsTer22)
c.441dup (p.Ala148CysfsTer22)
n.806dup
n.801dup
 dbSNP gnomAD v3 gnomAD v4
4g.134200754T>ACA358375453PABPC4Lc.266A>T (p.Asp89Val)
c.440A>T (p.Asp147Val)
n.805A>T
n.800A>T
4g.134200754T>CCA358375454PABPC4Lc.266A>G (p.Asp89Gly)
c.440A>G (p.Asp147Gly)
n.805A>G
n.800A>G
 gnomAD v4
4g.134200754T>GCA358375455PABPC4Lc.266A>C (p.Asp89Ala)
c.440A>C (p.Asp147Ala)
n.805A>C
n.800A>C
4g.134200755C>ACA358375456PABPC4Lc.265G>T (p.Asp89Tyr)
c.439G>T (p.Asp147Tyr)
n.804G>T
n.799G>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200755C=CA1495815008PABPC4Lc.265G= (p.Asp89=)
c.439G= (p.Asp147=)
n.804G=
n.799G=
4g.134200755C>GCA358375457PABPC4Lc.265G>C (p.Asp89His)
c.439G>C (p.Asp147His)
n.804G>C
n.799G>C
4g.134200755C>TCA358375458PABPC4Lc.265G>A (p.Asp89Asn)
c.439G>A (p.Asp147Asn)
n.804G>A
n.799G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200756G>ACA3081079PABPC4Lc.264C>T (p.Arg88=)
c.438C>T (p.Arg146=)
n.803C>T
n.798C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200756G>CCA441362049PABPC4Lc.264C>G (p.Arg88=)
c.438C>G (p.Arg146=)
n.803C>G
n.798C>G
 dbSNP gnomAD v4
4g.134200756G=CA1495815011PABPC4Lc.264C= (p.Arg88=)
c.438C= (p.Arg146=)
n.803C=
n.798C=
4g.134200756G>TCA441362050PABPC4Lc.264C>A (p.Arg88=)
c.438C>A (p.Arg146=)
n.803C>A
n.798C>A
4g.134200757C>ACA358375459PABPC4Lc.263G>T (p.Arg88Leu)
c.437G>T (p.Arg146Leu)
n.802G>T
n.797G>T
4g.134200757C=CA1495815015PABPC4Lc.263G= (p.Arg88=)
c.437G= (p.Arg146=)
n.802G=
n.797G=
4g.134200757C>GCA358375460PABPC4Lc.263G>C (p.Arg88Pro)
c.437G>C (p.Arg146Pro)
n.802G>C
n.797G>C
4g.134200757C>TCA358375461PABPC4Lc.263G>A (p.Arg88His)
c.437G>A (p.Arg146His)
n.802G>A
n.797G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200758G>ACA3081080PABPC4Lc.262C>T (p.Arg88Cys)
c.436C>T (p.Arg146Cys)
n.801C>T
n.796C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200758G>CCA358375462PABPC4Lc.262C>G (p.Arg88Gly)
c.436C>G (p.Arg146Gly)
n.801C>G
n.796C>G
4g.134200758G=CA1495815016PABPC4Lc.262C= (p.Arg88=)
c.436C= (p.Arg146=)
n.801C=
n.796C=
4g.134200758G>TCA358375464PABPC4Lc.262C>A (p.Arg88Ser)
c.436C>A (p.Arg146Ser)
n.801C>A
n.796C>A
 gnomAD v4
4g.134200759C>ACA358375465PABPC4Lc.261G>T (p.Gln87His)
c.435G>T (p.Gln145His)
n.800G>T
n.795G>T
4g.134200759C=CA1495815020PABPC4Lc.261G= (p.Gln87=)
c.435G= (p.Gln145=)
n.800G=
n.795G=
4g.134200759C>GCA358375466PABPC4Lc.261G>C (p.Gln87His)
c.435G>C (p.Gln145His)
n.800G>C
n.795G>C
4g.134200759C>TCA441362051PABPC4Lc.261G>A (p.Gln87=)
c.435G>A (p.Gln145=)
n.800G>A
n.795G>A
 dbSNP gnomAD v4 COSMIC COSMIC
4g.134200760T>ACA358375467PABPC4Lc.260A>T (p.Gln87Leu)
c.434A>T (p.Gln145Leu)
n.799A>T
n.794A>T
 gnomAD v4
4g.134200760T>CCA358375468PABPC4Lc.260A>G (p.Gln87Arg)
c.434A>G (p.Gln145Arg)
n.799A>G
n.794A>G
4g.134200760T>GCA358375469PABPC4Lc.260A>C (p.Gln87Pro)
c.434A>C (p.Gln145Pro)
n.799A>C
n.794A>C
4g.134200761G>ACA358375471PABPC4Lc.259C>T (p.Gln87Ter)
c.433C>T (p.Gln145Ter)
n.798C>T
n.793C>T
 gnomAD v4
4g.134200761G>CCA358375472PABPC4Lc.259C>G (p.Gln87Glu)
c.433C>G (p.Gln145Glu)
n.798C>G
n.793C>G
4g.134200761G>TCA358375470PABPC4Lc.259C>A (p.Gln87Lys)
c.433C>A (p.Gln145Lys)
n.798C>A
n.793C>A
4g.134200762A>CCA441362054PABPC4Lc.258T>G (p.Ser86=)
c.432T>G (p.Ser144=)
n.797T>G
n.792T>G
4g.134200762A>GCA441362053PABPC4Lc.258T>C (p.Ser86=)
c.432T>C (p.Ser144=)
n.797T>C
n.792T>C
4g.134200762A>TCA441362052PABPC4Lc.258T>A (p.Ser86=)
c.432T>A (p.Ser144=)
n.797T>A
n.792T>A
4g.134200763G>ACA358375473PABPC4Lc.257C>T (p.Ser86Phe)
c.431C>T (p.Ser144Phe)
n.796C>T
n.791C>T
 gnomAD v4
4g.134200763G>CCA358375474PABPC4Lc.257C>G (p.Ser86Cys)
c.431C>G (p.Ser144Cys)
n.796C>G
n.791C>G
4g.134200763G>TCA358375475PABPC4Lc.257C>A (p.Ser86Tyr)
c.431C>A (p.Ser144Tyr)
n.796C>A
n.791C>A
4g.134200764A>CCA358375476PABPC4Lc.256T>G (p.Ser86Ala)
c.430T>G (p.Ser144Ala)
n.795T>G
n.790T>G
4g.134200764A>GCA358375477PABPC4Lc.256T>C (p.Ser86Pro)
c.430T>C (p.Ser144Pro)
n.795T>C
n.790T>C
4g.134200764A>TCA358375478PABPC4Lc.256T>A (p.Ser86Thr)
c.430T>A (p.Ser144Thr)
n.795T>A
n.790T>A
4g.134200765C>ACA358375479PABPC4Lc.255G>T (p.Trp85Cys)
c.429G>T (p.Trp143Cys)
n.794G>T
n.789G>T
4g.134200765C>GCA358375480PABPC4Lc.255G>C (p.Trp85Cys)
c.429G>C (p.Trp143Cys)
n.794G>C
n.789G>C
4g.134200765C>TCA358375481PABPC4Lc.255G>A (p.Trp85Ter)
c.429G>A (p.Trp143Ter)
n.794G>A
n.789G>A
4g.134200766C>ACA358375482PABPC4Lc.254G>T (p.Trp85Leu)
c.428G>T (p.Trp143Leu)
n.793G>T
n.788G>T
4g.134200766C>GCA358375483PABPC4Lc.254G>C (p.Trp85Ser)
c.428G>C (p.Trp143Ser)
n.793G>C
n.788G>C
4g.134200766C>TCA358375484PABPC4Lc.254G>A (p.Trp85Ter)
c.428G>A (p.Trp143Ter)
n.793G>A
n.788G>A
4g.134200767A>CCA358375487PABPC4Lc.253T>G (p.Trp85Gly)
c.427T>G (p.Trp143Gly)
n.792T>G
n.787T>G
4g.134200767A>GCA358375485PABPC4Lc.253T>C (p.Trp85Arg)
c.427T>C (p.Trp143Arg)
n.792T>C
n.787T>C
4g.134200767A>TCA358375486PABPC4Lc.253T>A (p.Trp85Arg)
c.427T>A (p.Trp143Arg)
n.792T>A
n.787T>A
4g.134200768C>ACA358375488PABPC4Lc.252G>T (p.Met84Ile)
c.426G>T (p.Met142Ile)
n.791G>T
n.786G>T
4g.134200768C=CA1495815022PABPC4Lc.252G= (p.Met84=)
c.426G= (p.Met142=)
n.791G=
n.786G=
4g.134200768C>GCA358375489PABPC4Lc.252G>C (p.Met84Ile)
c.426G>C (p.Met142Ile)
n.791G>C
n.786G>C
4g.134200768C>TCA3081081PABPC4Lc.252G>A (p.Met84Ile)
c.426G>A (p.Met142Ile)
n.791G>A
n.786G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200768_134200770delinsCATCA1495815023PABPC4Lc.250_252delinsATG (p.Met84=)
c.424_426delinsATG (p.Met142=)
n.789_791delinsATG
n.784_786delinsATG
4g.134200769A=CA1495815026PABPC4Lc.251T= (p.Met84=)
c.425T= (p.Met142=)
n.790T=
n.785T=
4g.134200769A>CCA358375490PABPC4Lc.251T>G (p.Met84Arg)
c.425T>G (p.Met142Arg)
n.790T>G
n.785T>G
4g.134200769A>GCA358375491PABPC4Lc.251T>C (p.Met84Thr)
c.425T>C (p.Met142Thr)
n.790T>C
n.785T>C
 ClinVar dbSNP gnomAD v4
4g.134200769A>TCA358375492PABPC4Lc.251T>A (p.Met84Lys)
c.425T>A (p.Met142Lys)
n.790T>A
n.785T>A
 gnomAD v4
4g.134200769_134200770delCA1495815025PABPC4Lc.250_251del (p.Met84ValfsTer27)
c.424_425del (p.Met142ValfsTer27)
n.789_790del
n.784_785del
 dbSNP gnomAD v4
4g.134200770T>ACA358375493PABPC4Lc.250A>T (p.Met84Leu)
c.424A>T (p.Met142Leu)
n.789A>T
n.784A>T
4g.134200770T>CCA358375494PABPC4Lc.250A>G (p.Met84Val)
c.424A>G (p.Met142Val)
n.789A>G
n.784A>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200770T>GCA358375495PABPC4Lc.250A>C (p.Met84Leu)
c.424A>C (p.Met142Leu)
n.789A>C
n.784A>C
4g.134200770T=CA1495815029PABPC4Lc.250A= (p.Met84=)
c.424A= (p.Met142=)
n.789A=
n.784A=
4g.134200771G>ACA441362055PABPC4Lc.249C>T (p.Leu83=)
c.423C>T (p.Leu141=)
n.788C>T
n.783C>T
4g.134200771G>CCA106325830PABPC4Lc.249C>G (p.Leu83=)
c.423C>G (p.Leu141=)
n.788C>G
n.783C>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200771G=CA1495815033PABPC4Lc.249C= (p.Leu83=)
c.423C= (p.Leu141=)
n.788C=
n.783C=
4g.134200771G>TCA441362056PABPC4Lc.249C>A (p.Leu83=)
c.423C>A (p.Leu141=)
n.788C>A
n.783C>A
4g.134200772A>CCA358375496PABPC4Lc.248T>G (p.Leu83Arg)
c.422T>G (p.Leu141Arg)
n.787T>G
n.782T>G
4g.134200772A>GCA358375497PABPC4Lc.248T>C (p.Leu83Pro)
c.422T>C (p.Leu141Pro)
n.787T>C
n.782T>C
4g.134200772A>TCA358375498PABPC4Lc.248T>A (p.Leu83His)
c.422T>A (p.Leu141His)
n.787T>A
n.782T>A
4g.134200773G>ACA358375501PABPC4Lc.247C>T (p.Leu83Phe)
c.421C>T (p.Leu141Phe)
n.786C>T
n.781C>T
4g.134200773G>CCA358375500PABPC4Lc.247C>G (p.Leu83Val)
c.421C>G (p.Leu141Val)
n.786C>G
n.781C>G
4g.134200773G>TCA358375499PABPC4Lc.247C>A (p.Leu83Ile)
c.421C>A (p.Leu141Ile)
n.786C>A
n.781C>A
4g.134200774A>CCA441362057PABPC4Lc.246T>G (p.Arg82=)
c.420T>G (p.Arg140=)
n.785T>G
n.780T>G
4g.134200774A>GCA441362058PABPC4Lc.246T>C (p.Arg82=)
c.420T>C (p.Arg140=)
n.785T>C
n.780T>C
 gnomAD v4
4g.134200774A>TCA441362059PABPC4Lc.246T>A (p.Arg82=)
c.420T>A (p.Arg140=)
n.785T>A
n.780T>A
4g.134200775C>ACA358375502PABPC4Lc.245G>T (p.Arg82Leu)
c.419G>T (p.Arg140Leu)
n.784G>T
n.779G>T
4g.134200775C=CA1495815036PABPC4Lc.245G= (p.Arg82=)
c.419G= (p.Arg140=)
n.784G=
n.779G=
4g.134200775C>GCA358375504PABPC4Lc.245G>C (p.Arg82Pro)
c.419G>C (p.Arg140Pro)
n.784G>C
n.779G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200775C>TCA358375503PABPC4Lc.245G>A (p.Arg82His)
c.419G>A (p.Arg140His)
n.784G>A
n.779G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.134200776G>ACA358375505PABPC4Lc.244C>T (p.Arg82Cys)
c.418C>T (p.Arg140Cys)
n.783C>T
n.778C>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200776G>CCA358375506PABPC4Lc.244C>G (p.Arg82Gly)
c.418C>G (p.Arg140Gly)
n.783C>G
n.778C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200776G=CA1495815042PABPC4Lc.244C= (p.Arg82=)
c.418C= (p.Arg140=)
n.783C=
n.778C=
4g.134200776G>TCA358375507PABPC4Lc.244C>A (p.Arg82Ser)
c.418C>A (p.Arg140Ser)
n.783C>A
n.778C>A
4g.134200777G>ACA441362060PABPC4Lc.243C>T (p.Ile81=)
c.417C>T (p.Ile139=)
n.782C>T
n.777C>T
4g.134200777G>CCA358375508PABPC4Lc.243C>G (p.Ile81Met)
c.417C>G (p.Ile139Met)
n.782C>G
n.777C>G
4g.134200777G=CA1495815045PABPC4Lc.243C= (p.Ile81=)
c.417C= (p.Ile139=)
n.782C=
n.777C=
4g.134200777G>TCA441362061PABPC4Lc.243C>A (p.Ile81=)
c.417C>A (p.Ile139=)
n.782C>A
n.777C>A
 dbSNP
4g.134200778A>CCA358375509PABPC4Lc.242T>G (p.Ile81Ser)
c.416T>G (p.Ile139Ser)
n.781T>G
n.776T>G
4g.134200778A>GCA358375510PABPC4Lc.242T>C (p.Ile81Thr)
c.416T>C (p.Ile139Thr)
n.781T>C
n.776T>C
4g.134200778A>TCA358375511PABPC4Lc.242T>A (p.Ile81Asn)
c.416T>A (p.Ile139Asn)
n.781T>A
n.776T>A
4g.134200779T>ACA358375512PABPC4Lc.241A>T (p.Ile81Phe)
c.415A>T (p.Ile139Phe)
n.780A>T
n.775A>T
4g.134200779T>CCA358375513PABPC4Lc.241A>G (p.Ile81Val)
c.415A>G (p.Ile139Val)
n.780A>G
n.775A>G
4g.134200779T>GCA358375514PABPC4Lc.241A>C (p.Ile81Leu)
c.415A>C (p.Ile139Leu)
n.780A>C
n.775A>C
4g.134200780G>ACA441362062PABPC4Lc.240C>T (p.Ser80=)
c.414C>T (p.Ser138=)
n.779C>T
n.774C>T
 COSMIC COSMIC
4g.134200780G>CCA441362063PABPC4Lc.240C>G (p.Ser80=)
c.414C>G (p.Ser138=)
n.779C>G
n.774C>G
4g.134200780G>TCA441362064PABPC4Lc.240C>A (p.Ser80=)
c.414C>A (p.Ser138=)
n.779C>A
n.774C>A
4g.134200781G>ACA358375517PABPC4Lc.239C>T (p.Ser80Phe)
c.413C>T (p.Ser138Phe)
n.778C>T
n.773C>T
4g.134200781G>CCA358375516PABPC4Lc.239C>G (p.Ser80Cys)
c.413C>G (p.Ser138Cys)
n.778C>G
n.773C>G
4g.134200781G=CA1495815049PABPC4Lc.239C= (p.Ser80=)
c.413C= (p.Ser138=)
n.778C=
n.773C=
4g.134200781G>TCA358375515PABPC4Lc.239C>A (p.Ser80Tyr)
c.413C>A (p.Ser138Tyr)
n.778C>A
n.773C>A
 dbSNP
4g.134200782A=CA1495815054PABPC4Lc.238T= (p.Ser80=)
c.412T= (p.Ser138=)
n.777T=
n.772T=
4g.134200782A>CCA358375518PABPC4Lc.238T>G (p.Ser80Ala)
c.412T>G (p.Ser138Ala)
n.777T>G
n.772T>G
4g.134200782A>GCA106325833PABPC4Lc.238T>C (p.Ser80Pro)
c.412T>C (p.Ser138Pro)
n.777T>C
n.772T>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200782A>TCA358375519PABPC4Lc.238T>A (p.Ser80Thr)
c.412T>A (p.Ser138Thr)
n.777T>A
n.772T>A
4g.134200783T>ACA358375520PABPC4Lc.237A>T (p.Lys79Asn)
c.411A>T (p.Lys137Asn)
n.776A>T
n.771A>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200783T>CCA441362065PABPC4Lc.237A>G (p.Lys79=)
c.411A>G (p.Lys137=)
n.776A>G
n.771A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200783T>GCA358375521PABPC4Lc.237A>C (p.Lys79Asn)
c.411A>C (p.Lys137Asn)
n.776A>C
n.771A>C
4g.134200783T=CA1495815057PABPC4Lc.237A= (p.Lys79=)
c.411A= (p.Lys137=)
n.776A=
n.771A=
4g.134200784T>ACA358375522PABPC4Lc.236A>T (p.Lys79Ile)
c.410A>T (p.Lys137Ile)
n.775A>T
n.770A>T
4g.134200784T>CCA358375523PABPC4Lc.236A>G (p.Lys79Arg)
c.410A>G (p.Lys137Arg)
n.775A>G
n.770A>G
4g.134200784T>GCA106325835PABPC4Lc.236A>C (p.Lys79Thr)
c.410A>C (p.Lys137Thr)
n.775A>C
n.770A>C
 dbSNP gnomAD v3 gnomAD v4
4g.134200784T=CA1495815062PABPC4Lc.236A= (p.Lys79=)
c.410A= (p.Lys137=)
n.775A=
n.770A=
4g.134200785T>ACA358375524PABPC4Lc.235A>T (p.Lys79Ter)
c.409A>T (p.Lys137Ter)
n.774A>T
n.769A>T
 dbSNP
4g.134200785T>CCA358375525PABPC4Lc.235A>G (p.Lys79Glu)
c.409A>G (p.Lys137Glu)
n.774A>G
n.769A>G
4g.134200785T>GCA358375526PABPC4Lc.235A>C (p.Lys79Gln)
c.409A>C (p.Lys137Gln)
n.774A>C
n.769A>C
4g.134200785T=CA1495815064PABPC4Lc.235A= (p.Lys79=)
c.409A= (p.Lys137=)
n.774A=
n.769A=
4g.134200786G>ACA441362066PABPC4Lc.234C>T (p.Gly78=)
c.408C>T (p.Gly136=)
n.773C>T
n.768C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200786G>CCA441362067PABPC4Lc.234C>G (p.Gly78=)
c.408C>G (p.Gly136=)
n.773C>G
n.768C>G
4g.134200786G=CA1495815068PABPC4Lc.234C= (p.Gly78=)
c.408C= (p.Gly136=)
n.773C=
n.768C=
4g.134200786G>TCA441362068PABPC4Lc.234C>A (p.Gly78=)
c.408C>A (p.Gly136=)
n.773C>A
n.768C>A
4g.134200787C>ACA358375528PABPC4Lc.233G>T (p.Gly78Val)
c.407G>T (p.Gly136Val)
n.772G>T
n.767G>T
4g.134200787C>GCA358375529PABPC4Lc.233G>C (p.Gly78Ala)
c.407G>C (p.Gly136Ala)
n.772G>C
n.767G>C
4g.134200787C>TCA358375527PABPC4Lc.233G>A (p.Gly78Asp)
c.407G>A (p.Gly136Asp)
n.772G>A
n.767G>A
 gnomAD v4
4g.134200788C>ACA358375530PABPC4Lc.232G>T (p.Gly78Cys)
c.406G>T (p.Gly136Cys)
n.771G>T
n.766G>T
4g.134200788C=CA1495815070PABPC4Lc.232G= (p.Gly78=)
c.406G= (p.Gly136=)
n.771G=
n.766G=
4g.134200788C>GCA358375531PABPC4Lc.232G>C (p.Gly78Arg)
c.406G>C (p.Gly136Arg)
n.771G>C
n.766G>C
4g.134200788C>TCA358375532PABPC4Lc.232G>A (p.Gly78Ser)
c.406G>A (p.Gly136Ser)
n.771G>A
n.766G>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200789T>ACA358375533PABPC4Lc.231A>T (p.Lys77Asn)
c.405A>T (p.Lys135Asn)
n.770A>T
n.765A>T
4g.134200789T>CCA441362069PABPC4Lc.231A>G (p.Lys77=)
c.405A>G (p.Lys135=)
n.770A>G
n.765A>G
4g.134200789T>GCA358375534PABPC4Lc.231A>C (p.Lys77Asn)
c.405A>C (p.Lys135Asn)
n.770A>C
n.765A>C
4g.134200790T>ACA358375535PABPC4Lc.230A>T (p.Lys77Ile)
c.404A>T (p.Lys135Ile)
n.769A>T
n.764A>T
4g.134200790T>CCA358375536PABPC4Lc.230A>G (p.Lys77Arg)
c.404A>G (p.Lys135Arg)
n.769A>G
n.764A>G
4g.134200790T>GCA358375537PABPC4Lc.230A>C (p.Lys77Thr)
c.404A>C (p.Lys135Thr)
n.769A>C
n.764A>C
4g.134200791T>ACA358375538PABPC4Lc.229A>T (p.Lys77Ter)
c.403A>T (p.Lys135Ter)
n.768A>T
n.763A>T
4g.134200791T>CCA358375539PABPC4Lc.229A>G (p.Lys77Glu)
c.403A>G (p.Lys135Glu)
n.768A>G
n.763A>G
4g.134200791T>GCA358375540PABPC4Lc.229A>C (p.Lys77Gln)
c.403A>C (p.Lys135Gln)
n.768A>C
n.763A>C
4g.134200792T>ACA441362070PABPC4Lc.228A>T (p.Ile76=)
c.402A>T (p.Ile134=)
n.767A>T
n.762A>T
4g.134200792T>CCA358375541PABPC4Lc.228A>G (p.Ile76Met)
c.402A>G (p.Ile134Met)
n.767A>G
n.762A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200792T>GCA441362071PABPC4Lc.228A>C (p.Ile76=)
c.402A>C (p.Ile134=)
n.767A>C
n.762A>C
4g.134200792T=CA1495815074PABPC4Lc.228A= (p.Ile76=)
c.402A= (p.Ile134=)
n.767A=
n.762A=
4g.134200792_134200795delinsTATGCA1495815072PABPC4Lc.225_228delinsCATA (p.Ile75=)
c.399_402delinsCATA (p.Ile133=)
n.764_767delinsCATA
n.759_762delinsCATA
4g.134200793A=CA1495815079PABPC4Lc.227T= (p.Ile76=)
c.401T= (p.Ile134=)
n.766T=
n.761T=
4g.134200793A>CCA358375544PABPC4Lc.227T>G (p.Ile76Arg)
c.401T>G (p.Ile134Arg)
n.766T>G
n.761T>G
4g.134200793A>GCA358375543PABPC4Lc.227T>C (p.Ile76Thr)
c.401T>C (p.Ile134Thr)
n.766T>C
n.761T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200793A>TCA358375542PABPC4Lc.227T>A (p.Ile76Lys)
c.401T>A (p.Ile134Lys)
n.766T>A
n.761T>A
4g.134200796_134200798delCA106325837PABPC4Lc.225_227del (p.Ile76del)
c.399_401del (p.Ile134del)
n.764_766del
n.759_761del
 dbSNP gnomAD v4
4g.134200794T>ACA358375545PABPC4Lc.226A>T (p.Ile76Leu)
c.400A>T (p.Ile134Leu)
n.765A>T
n.760A>T
4g.134200794T>CCA106325839PABPC4Lc.226A>G (p.Ile76Val)
c.400A>G (p.Ile134Val)
n.765A>G
n.760A>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200794T>GCA358375546PABPC4Lc.226A>C (p.Ile76Leu)
c.400A>C (p.Ile134Leu)
n.765A>C
n.760A>C
4g.134200794T=CA1495815085PABPC4Lc.226A= (p.Ile76=)
c.400A= (p.Ile134=)
n.765A=
n.760A=
4g.134200795G>ACA441362072PABPC4Lc.225C>T (p.Ile75=)
c.399C>T (p.Ile133=)
n.764C>T
n.759C>T
4g.134200795G>CCA106325841PABPC4Lc.225C>G (p.Ile75Met)
c.399C>G (p.Ile133Met)
n.764C>G
n.759C>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200795G=CA1495815088PABPC4Lc.225C= (p.Ile75=)
c.399C= (p.Ile133=)
n.764C=
n.759C=
4g.134200795G>TCA441362073PABPC4Lc.225C>A (p.Ile75=)
c.399C>A (p.Ile133=)
n.764C>A
n.759C>A
4g.134200796A=CA1495815090PABPC4Lc.224T= (p.Ile75=)
c.398T= (p.Ile133=)
n.763T=
n.758T=
4g.134200796A>CCA358375547PABPC4Lc.224T>G (p.Ile75Ser)
c.398T>G (p.Ile133Ser)
n.763T>G
n.758T>G
4g.134200796A>GCA3081082PABPC4Lc.224T>C (p.Ile75Thr)
c.398T>C (p.Ile133Thr)
n.763T>C
n.758T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200796A>TCA358375548PABPC4Lc.224T>A (p.Ile75Asn)
c.398T>A (p.Ile133Asn)
n.763T>A
n.758T>A
4g.134200797T>ACA358375549PABPC4Lc.223A>T (p.Ile75Phe)
c.397A>T (p.Ile133Phe)
n.762A>T
n.757A>T
4g.134200797T>CCA358375550PABPC4Lc.223A>G (p.Ile75Val)
c.397A>G (p.Ile133Val)
n.762A>G
n.757A>G
4g.134200797T>GCA358375551PABPC4Lc.223A>C (p.Ile75Leu)
c.397A>C (p.Ile133Leu)
n.762A>C
n.757A>C
4g.134200798G>ACA441362074PABPC4Lc.222C>T (p.Asp74=)
c.396C>T (p.Asp132=)
n.761C>T
n.756C>T
 gnomAD v4
4g.134200798G>CCA358375552PABPC4Lc.222C>G (p.Asp74Glu)
c.396C>G (p.Asp132Glu)
n.761C>G
n.756C>G
4g.134200798G>TCA358375553PABPC4Lc.222C>A (p.Asp74Glu)
c.396C>A (p.Asp132Glu)
n.761C>A
n.756C>A
4g.134200799T>ACA358375556PABPC4Lc.221A>T (p.Asp74Val)
c.395A>T (p.Asp132Val)
n.760A>T
n.755A>T
4g.134200799T>CCA358375555PABPC4Lc.221A>G (p.Asp74Gly)
c.395A>G (p.Asp132Gly)
n.760A>G
n.755A>G
4g.134200799T>GCA358375554PABPC4Lc.221A>C (p.Asp74Ala)
c.395A>C (p.Asp132Ala)
n.760A>C
n.755A>C
4g.134200800C>ACA358375557PABPC4Lc.220G>T (p.Asp74Tyr)
c.394G>T (p.Asp132Tyr)
n.759G>T
n.754G>T
 COSMIC COSMIC
4g.134200800C=CA1495815092PABPC4Lc.220G= (p.Asp74=)
c.394G= (p.Asp132=)
n.759G=
n.754G=
4g.134200800C>GCA358375559PABPC4Lc.220G>C (p.Asp74His)
c.394G>C (p.Asp132His)
n.759G>C
n.754G>C
4g.134200800C>TCA358375558PABPC4Lc.220G>A (p.Asp74Asn)
c.394G>A (p.Asp132Asn)
n.759G>A
n.754G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200801A>CCA358375560PABPC4Lc.219T>G (p.Phe73Leu)
c.393T>G (p.Phe131Leu)
n.758T>G
n.753T>G
4g.134200801A>GCA441362075PABPC4Lc.219T>C (p.Phe73=)
c.393T>C (p.Phe131=)
n.758T>C
n.753T>C
4g.134200801A>TCA358375561PABPC4Lc.219T>A (p.Phe73Leu)
c.393T>A (p.Phe131Leu)
n.758T>A
n.753T>A
4g.134200802A>CCA358375562PABPC4Lc.218T>G (p.Phe73Cys)
c.392T>G (p.Phe131Cys)
n.757T>G
n.752T>G
4g.134200802A>GCA358375563PABPC4Lc.218T>C (p.Phe73Ser)
c.392T>C (p.Phe131Ser)
n.757T>C
n.752T>C
4g.134200802A>TCA358375564PABPC4Lc.218T>A (p.Phe73Tyr)
c.392T>A (p.Phe131Tyr)
n.757T>A
n.752T>A
4g.134200803A=CA1495815095PABPC4Lc.217T= (p.Phe73=)
c.391T= (p.Phe131=)
n.756T=
n.751T=
4g.134200803A>CCA358375565PABPC4Lc.217T>G (p.Phe73Val)
c.391T>G (p.Phe131Val)
n.756T>G
n.751T>G
 dbSNP gnomAD v4
4g.134200803A>GCA358375566PABPC4Lc.217T>C (p.Phe73Leu)
c.391T>C (p.Phe131Leu)
n.756T>C
n.751T>C
4g.134200803A>TCA358375567PABPC4Lc.217T>A (p.Phe73Ile)
c.391T>A (p.Phe131Ile)
n.756T>A
n.751T>A
4g.134200804G>ACA441362076PABPC4Lc.216C>T (p.Asn72=)
c.390C>T (p.Asn130=)
n.755C>T
n.750C>T
 gnomAD v4
4g.134200804G>CCA358375568PABPC4Lc.216C>G (p.Asn72Lys)
c.390C>G (p.Asn130Lys)
n.755C>G
n.750C>G
4g.134200804G=CA1495815097PABPC4Lc.216C= (p.Asn72=)
c.390C= (p.Asn130=)
n.755C=
n.750C=
4g.134200804G>TCA106325844PABPC4Lc.216C>A (p.Asn72Lys)
c.390C>A (p.Asn130Lys)
n.755C>A
n.750C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200805T>ACA358375569PABPC4Lc.215A>T (p.Asn72Ile)
c.389A>T (p.Asn130Ile)
n.754A>T
n.749A>T
4g.134200805T>CCA358375570PABPC4Lc.215A>G (p.Asn72Ser)
c.389A>G (p.Asn130Ser)
n.754A>G
n.749A>G
4g.134200805T>GCA358375571PABPC4Lc.215A>C (p.Asn72Thr)
c.389A>C (p.Asn130Thr)
n.754A>C
n.749A>C

Number of alleles fetched