Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.134200578T>ACA358375044PABPC4Lc.442A>T (p.Ser148Cys)
c.616A>T (p.Ser206Cys)
n.981A>T
n.976A>T
4g.134200578T>CCA358375045PABPC4Lc.442A>G (p.Ser148Gly)
c.616A>G (p.Ser206Gly)
n.981A>G
n.976A>G
4g.134200578T>GCA358375046PABPC4Lc.442A>C (p.Ser148Arg)
c.616A>C (p.Ser206Arg)
n.981A>C
n.976A>C
4g.134200579C>ACA358375047PABPC4Lc.441G>T (p.Gln147His)
c.615G>T (p.Gln205His)
n.980G>T
n.975G>T
4g.134200579C>GCA358375048PABPC4Lc.441G>C (p.Gln147His)
c.615G>C (p.Gln205His)
n.980G>C
n.975G>C
4g.134200579C>TCA441360969PABPC4Lc.441G>A (p.Gln147=)
c.615G>A (p.Gln205=)
n.980G>A
n.975G>A
gnomAD v4
4g.134200580T>ACA106325789PABPC4Lc.440A>T (p.Gln147Leu)
c.614A>T (p.Gln205Leu)
n.979A>T
n.974A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200580T>CCA358375049PABPC4Lc.440A>G (p.Gln147Arg)
c.614A>G (p.Gln205Arg)
n.979A>G
n.974A>G
dbSNP gnomAD v3 gnomAD v4
4g.134200580T>GCA358375050PABPC4Lc.440A>C (p.Gln147Pro)
c.614A>C (p.Gln205Pro)
n.979A>C
n.974A>C
4g.134200580T=CA1495814761PABPC4Lc.440A= (p.Gln147=)
c.614A= (p.Gln205=)
n.979A=
n.974A=
4g.134200581G>ACA358375051PABPC4Lc.439C>T (p.Gln147Ter)
c.613C>T (p.Gln205Ter)
n.978C>T
n.973C>T
4g.134200581G>CCA358375052PABPC4Lc.439C>G (p.Gln147Glu)
c.613C>G (p.Gln205Glu)
n.978C>G
n.973C>G
4g.134200581G>TCA358375053PABPC4Lc.439C>A (p.Gln147Lys)
c.613C>A (p.Gln205Lys)
n.978C>A
n.973C>A
4g.134200582G>ACA441360970PABPC4Lc.438C>T (p.Asn146=)
c.612C>T (p.Asn204=)
n.977C>T
n.972C>T
4g.134200582G>CCA358375054PABPC4Lc.438C>G (p.Asn146Lys)
c.612C>G (p.Asn204Lys)
n.977C>G
n.972C>G
4g.134200582G>TCA358375055PABPC4Lc.438C>A (p.Asn146Lys)
c.612C>A (p.Asn204Lys)
n.977C>A
n.972C>A
4g.134200583T>ACA358375056PABPC4Lc.437A>T (p.Asn146Ile)
c.611A>T (p.Asn204Ile)
n.976A>T
n.971A>T
4g.134200583T>CCA358375058PABPC4Lc.437A>G (p.Asn146Ser)
c.611A>G (p.Asn204Ser)
n.976A>G
n.971A>G
gnomAD v4
4g.134200583T>GCA358375057PABPC4Lc.437A>C (p.Asn146Thr)
c.611A>C (p.Asn204Thr)
n.976A>C
n.971A>C
4g.134200584dupCA441360971PABPC4Lc.437dup (p.Asn146LysfsTer10)
c.611dup (p.Asn204LysfsTer10)
n.976dup
n.971dup
gnomAD v4
4g.134200584T>ACA358375059PABPC4Lc.436A>T (p.Asn146Tyr)
c.610A>T (p.Asn204Tyr)
n.975A>T
n.970A>T
dbSNP gnomAD v3 gnomAD v4
4g.134200584T>CCA358375060PABPC4Lc.436A>G (p.Asn146Asp)
c.610A>G (p.Asn204Asp)
n.975A>G
n.970A>G
dbSNP gnomAD v2 gnomAD v4
4g.134200584T>GCA358375061PABPC4Lc.436A>C (p.Asn146His)
c.610A>C (p.Asn204His)
n.975A>C
n.970A>C
4g.134200584T=CA1495814764PABPC4Lc.436A= (p.Asn146=)
c.610A= (p.Asn204=)
n.975A=
n.970A=
4g.134200585C>ACA358375062PABPC4Lc.435G>T (p.Gln145His)
c.609G>T (p.Gln203His)
n.974G>T
n.969G>T
4g.134200585C>GCA358375063PABPC4Lc.435G>C (p.Gln145His)
c.609G>C (p.Gln203His)
n.974G>C
n.969G>C
4g.134200585C>TCA441360972PABPC4Lc.435G>A (p.Gln145=)
c.609G>A (p.Gln203=)
n.974G>A
n.969G>A
4g.134200585_134200586delinsCTCA1495814766PABPC4Lc.434_435delinsAG (p.Gln145=)
c.608_609delinsAG (p.Gln203=)
n.973_974delinsAG
n.968_969delinsAG
4g.134200586delCA555019081PABPC4Lc.434del (p.Gln145ArgfsTer13)
c.608del (p.Gln203ArgfsTer13)
n.973del
n.968del
dbSNP gnomAD v2 gnomAD v4
4g.134200586T>ACA358375064PABPC4Lc.434A>T (p.Gln145Leu)
c.608A>T (p.Gln203Leu)
n.973A>T
n.968A>T
4g.134200586T>CCA358375065PABPC4Lc.434A>G (p.Gln145Arg)
c.608A>G (p.Gln203Arg)
n.973A>G
n.968A>G
4g.134200586T>GCA358375066PABPC4Lc.434A>C (p.Gln145Pro)
c.608A>C (p.Gln203Pro)
n.973A>C
n.968A>C
4g.134200587G>ACA358375067PABPC4Lc.433C>T (p.Gln145Ter)
c.607C>T (p.Gln203Ter)
n.972C>T
n.967C>T
4g.134200587G>CCA358375068PABPC4Lc.433C>G (p.Gln145Glu)
c.607C>G (p.Gln203Glu)
n.972C>G
n.967C>G
4g.134200587G>TCA358375069PABPC4Lc.433C>A (p.Gln145Lys)
c.607C>A (p.Gln203Lys)
n.972C>A
n.967C>A
4g.134200588A>CCA358375071PABPC4Lc.432T>G (p.Phe144Leu)
c.606T>G (p.Phe202Leu)
n.971T>G
n.966T>G
4g.134200588A>GCA441360973PABPC4Lc.432T>C (p.Phe144=)
c.606T>C (p.Phe202=)
n.971T>C
n.966T>C
4g.134200588A>TCA358375070PABPC4Lc.432T>A (p.Phe144Leu)
c.606T>A (p.Phe202Leu)
n.971T>A
n.966T>A
4g.134200589A>CCA358375072PABPC4Lc.431T>G (p.Phe144Cys)
c.605T>G (p.Phe202Cys)
n.970T>G
n.965T>G
4g.134200589A>GCA358375073PABPC4Lc.431T>C (p.Phe144Ser)
c.605T>C (p.Phe202Ser)
n.970T>C
n.965T>C
4g.134200589A>TCA358375074PABPC4Lc.431T>A (p.Phe144Tyr)
c.605T>A (p.Phe202Tyr)
n.970T>A
n.965T>A
4g.134200590A>CCA358375075PABPC4Lc.430T>G (p.Phe144Val)
c.604T>G (p.Phe202Val)
n.969T>G
n.964T>G
4g.134200590A>GCA358375076PABPC4Lc.430T>C (p.Phe144Leu)
c.604T>C (p.Phe202Leu)
n.969T>C
n.964T>C
4g.134200590A>TCA358375077PABPC4Lc.430T>A (p.Phe144Ile)
c.604T>A (p.Phe202Ile)
n.969T>A
n.964T>A
4g.134200591G>ACA441360974PABPC4Lc.429C>T (p.His143=)
c.603C>T (p.His201=)
n.968C>T
n.963C>T
4g.134200591G>CCA358375078PABPC4Lc.429C>G (p.His143Gln)
c.603C>G (p.His201Gln)
n.968C>G
n.963C>G
4g.134200591G>TCA358375079PABPC4Lc.429C>A (p.His143Gln)
c.603C>A (p.His201Gln)
n.968C>A
n.963C>A
4g.134200592T>ACA358375080PABPC4Lc.428A>T (p.His143Leu)
c.602A>T (p.His201Leu)
n.967A>T
n.962A>T
4g.134200592T>CCA358375081PABPC4Lc.428A>G (p.His143Arg)
c.602A>G (p.His201Arg)
n.967A>G
n.962A>G
4g.134200592T>GCA358375082PABPC4Lc.428A>C (p.His143Pro)
c.602A>C (p.His201Pro)
n.967A>C
n.962A>C
4g.134200593G>ACA358375083PABPC4Lc.427C>T (p.His143Tyr)
c.601C>T (p.His201Tyr)
n.966C>T
n.961C>T
dbSNP gnomAD v4
4g.134200593G>CCA106325791PABPC4Lc.427C>G (p.His143Asp)
c.601C>G (p.His201Asp)
n.966C>G
n.961C>G
dbSNP
4g.134200593G=CA1495814777PABPC4Lc.427C= (p.His143=)
c.601C= (p.His201=)
n.966C=
n.961C=
4g.134200593G>TCA358375084PABPC4Lc.427C>A (p.His143Asn)
c.601C>A (p.His201Asn)
n.966C>A
n.961C>A
gnomAD v4
4g.134200595_134200607delCA2672091048PABPC4Lc.415_427del (p.Tyr139ThrfsTer15)
c.589_601del (p.Tyr197ThrfsTer15)
n.954_966del
n.949_961del
gnomAD v4
4g.134200594C>ACA441360975PABPC4Lc.426G>T (p.Val142=)
c.600G>T (p.Val200=)
n.965G>T
n.960G>T
4g.134200594C>GCA441360977PABPC4Lc.426G>C (p.Val142=)
c.600G>C (p.Val200=)
n.965G>C
n.960G>C
4g.134200594C>TCA441360976PABPC4Lc.426G>A (p.Val142=)
c.600G>A (p.Val200=)
n.965G>A
n.960G>A
4g.134200595A=CA1495814782PABPC4Lc.425T= (p.Val142=)
c.599T= (p.Val200=)
n.964T=
n.959T=
4g.134200595A>CCA358375087PABPC4Lc.425T>G (p.Val142Gly)
c.599T>G (p.Val200Gly)
n.964T>G
n.959T>G
dbSNP gnomAD v2 gnomAD v4
4g.134200595A>GCA358375086PABPC4Lc.425T>C (p.Val142Ala)
c.599T>C (p.Val200Ala)
n.964T>C
n.959T>C
4g.134200595A>TCA358375085PABPC4Lc.425T>A (p.Val142Glu)
c.599T>A (p.Val200Glu)
n.964T>A
n.959T>A
4g.134200596C>ACA358375088PABPC4Lc.424G>T (p.Val142Leu)
c.598G>T (p.Val200Leu)
n.963G>T
n.958G>T
4g.134200596C=CA1495814786PABPC4Lc.424G= (p.Val142=)
c.598G= (p.Val200=)
n.963G=
n.958G=
4g.134200596C>GCA358375089PABPC4Lc.424G>C (p.Val142Leu)
c.598G>C (p.Val200Leu)
n.963G>C
n.958G>C
dbSNP gnomAD v2 gnomAD v4
4g.134200596C>TCA358375090PABPC4Lc.424G>A (p.Val142Met)
c.598G>A (p.Val200Met)
n.963G>A
n.958G>A
4g.134200597A>CCA358375091PABPC4Lc.423T>G (p.Phe141Leu)
c.597T>G (p.Phe199Leu)
n.962T>G
n.957T>G
gnomAD v4
4g.134200597A>GCA441360978PABPC4Lc.423T>C (p.Phe141=)
c.597T>C (p.Phe199=)
n.962T>C
n.957T>C
4g.134200597A>TCA358375092PABPC4Lc.423T>A (p.Phe141Leu)
c.597T>A (p.Phe199Leu)
n.962T>A
n.957T>A
4g.134200598A=CA1495814788PABPC4Lc.422T= (p.Phe141=)
c.596T= (p.Phe199=)
n.961T=
n.956T=
4g.134200598A>CCA358375093PABPC4Lc.422T>G (p.Phe141Cys)
c.596T>G (p.Phe199Cys)
n.961T>G
n.956T>G
dbSNP gnomAD v2 gnomAD v4
4g.134200598A>GCA358375094PABPC4Lc.422T>C (p.Phe141Ser)
c.596T>C (p.Phe199Ser)
n.961T>C
n.956T>C
4g.134200598A>TCA358375095PABPC4Lc.422T>A (p.Phe141Tyr)
c.596T>A (p.Phe199Tyr)
n.961T>A
n.956T>A
4g.134200599A=CA1495814792PABPC4Lc.421T= (p.Phe141=)
c.595T= (p.Phe199=)
n.960T=
n.955T=
4g.134200599A>CCA358375096PABPC4Lc.421T>G (p.Phe141Val)
c.595T>G (p.Phe199Val)
n.960T>G
n.955T>G
4g.134200599A>GCA358375097PABPC4Lc.421T>C (p.Phe141Leu)
c.595T>C (p.Phe199Leu)
n.960T>C
n.955T>C
dbSNP gnomAD v4
4g.134200599A>TCA358375098PABPC4Lc.421T>A (p.Phe141Ile)
c.595T>A (p.Phe199Ile)
n.960T>A
n.955T>A
4g.134200600T>ACA441360979PABPC4Lc.420A>T (p.Ala140=)
c.594A>T (p.Ala198=)
n.959A>T
n.954A>T
4g.134200600T>CCA441360980PABPC4Lc.420A>G (p.Ala140=)
c.594A>G (p.Ala198=)
n.959A>G
n.954A>G
4g.134200600T>GCA441360981PABPC4Lc.420A>C (p.Ala140=)
c.594A>C (p.Ala198=)
n.959A>C
n.954A>C
dbSNP gnomAD v3 gnomAD v4
4g.134200600T=CA1495814794PABPC4Lc.420A= (p.Ala140=)
c.594A= (p.Ala198=)
n.959A=
n.954A=
4g.134200601G>ACA358375099PABPC4Lc.419C>T (p.Ala140Val)
c.593C>T (p.Ala198Val)
n.958C>T
n.953C>T
dbSNP
4g.134200601G>CCA358375100PABPC4Lc.419C>G (p.Ala140Gly)
c.593C>G (p.Ala198Gly)
n.958C>G
n.953C>G
4g.134200601G>TCA358375101PABPC4Lc.419C>A (p.Ala140Glu)
c.593C>A (p.Ala198Glu)
n.958C>A
n.953C>A
4g.134200602C>ACA358375103PABPC4Lc.418G>T (p.Ala140Ser)
c.592G>T (p.Ala198Ser)
n.957G>T
n.952G>T
4g.134200602C>GCA358375105PABPC4Lc.418G>C (p.Ala140Pro)
c.592G>C (p.Ala198Pro)
n.957G>C
n.952G>C
4g.134200602C>TCA358375102PABPC4Lc.418G>A (p.Ala140Thr)
c.592G>A (p.Ala198Thr)
n.957G>A
n.952G>A
4g.134200603A>CCA358375106PABPC4Lc.417T>G (p.Tyr139Ter)
c.591T>G (p.Tyr197Ter)
n.956T>G
n.951T>G
4g.134200603A>GCA441360982PABPC4Lc.417T>C (p.Tyr139=)
c.591T>C (p.Tyr197=)
n.956T>C
n.951T>C
4g.134200603A>TCA358375107PABPC4Lc.417T>A (p.Tyr139Ter)
c.591T>A (p.Tyr197Ter)
n.956T>A
n.951T>A
4g.134200604T>ACA358375108PABPC4Lc.416A>T (p.Tyr139Phe)
c.590A>T (p.Tyr197Phe)
n.955A>T
n.950A>T
dbSNP gnomAD v4
4g.134200604T>CCA358375109PABPC4Lc.416A>G (p.Tyr139Cys)
c.590A>G (p.Tyr197Cys)
n.955A>G
n.950A>G
dbSNP gnomAD v4
4g.134200604T>GCA358375110PABPC4Lc.416A>C (p.Tyr139Ser)
c.590A>C (p.Tyr197Ser)
n.955A>C
n.950A>C
4g.134200604T=CA1495814798PABPC4Lc.416A= (p.Tyr139=)
c.590A= (p.Tyr197=)
n.955A=
n.950A=
4g.134200605A>CCA358375111PABPC4Lc.415T>G (p.Tyr139Asp)
c.589T>G (p.Tyr197Asp)
n.954T>G
n.949T>G
4g.134200605A>GCA358375112PABPC4Lc.415T>C (p.Tyr139His)
c.589T>C (p.Tyr197His)
n.954T>C
n.949T>C
4g.134200605A>TCA358375113PABPC4Lc.415T>A (p.Tyr139Asn)
c.589T>A (p.Tyr197Asn)
n.954T>A
n.949T>A
4g.134200606G>ACA441360983PABPC4Lc.414C>T (p.Gly138=)
c.588C>T (p.Gly196=)
n.953C>T
n.948C>T
4g.134200606G>CCA441360984PABPC4Lc.414C>G (p.Gly138=)
c.588C>G (p.Gly196=)
n.953C>G
n.948C>G
4g.134200606G>TCA441360985PABPC4Lc.414C>A (p.Gly138=)
c.588C>A (p.Gly196=)
n.953C>A
n.948C>A
4g.134200607C>ACA358375114PABPC4Lc.413G>T (p.Gly138Val)
c.587G>T (p.Gly196Val)
n.952G>T
n.947G>T
4g.134200607C=CA1495814801PABPC4Lc.413G= (p.Gly138=)
c.587G= (p.Gly196=)
n.952G=
n.947G=
4g.134200607C>GCA358375115PABPC4Lc.413G>C (p.Gly138Ala)
c.587G>C (p.Gly196Ala)
n.952G>C
n.947G>C
4g.134200607C>TCA358375116PABPC4Lc.413G>A (p.Gly138Asp)
c.587G>A (p.Gly196Asp)
n.952G>A
n.947G>A
dbSNP gnomAD v2 gnomAD v4
4g.134200608C>ACA358375117PABPC4Lc.412G>T (p.Gly138Cys)
c.586G>T (p.Gly196Cys)
n.951G>T
n.946G>T
4g.134200608C=CA1495814803PABPC4Lc.412G= (p.Gly138=)
c.586G= (p.Gly196=)
n.951G=
n.946G=
4g.134200608C>GCA358375118PABPC4Lc.412G>C (p.Gly138Arg)
c.586G>C (p.Gly196Arg)
n.951G>C
n.946G>C
4g.134200608C>TCA358375119PABPC4Lc.412G>A (p.Gly138Ser)
c.586G>A (p.Gly196Ser)
n.951G>A
n.946G>A
ClinVar
4g.134200608_134200609insAGTGAATTCA1495814805PABPC4Lc.411_412insAATTCACT (p.Gly138AsnfsTer23)
c.585_586insAATTCACT (p.Gly196AsnfsTer23)
n.950_951insAATTCACT
n.945_946insAATTCACT
dbSNP
4g.134200609C>ACA358375120PABPC4Lc.411G>T (p.Lys137Asn)
c.585G>T (p.Lys195Asn)
n.950G>T
n.945G>T
4g.134200609C=CA1495814806PABPC4Lc.411G= (p.Lys137=)
c.585G= (p.Lys195=)
n.950G=
n.945G=
4g.134200609C>GCA358375121PABPC4Lc.411G>C (p.Lys137Asn)
c.585G>C (p.Lys195Asn)
n.950G>C
n.945G>C
4g.134200609C>TCA441360986PABPC4Lc.411G>A (p.Lys137=)
c.585G>A (p.Lys195=)
n.950G>A
n.945G>A
dbSNP
4g.134200609_134200610insACCAATATTTACATAAAAAACTCA1495814810PABPC4Lc.410_411insAGTTTTTTATGTAAATATTGGT (p.Gly138ValfsTer25)
c.584_585insAGTTTTTTATGTAAATATTGGT (p.Gly196ValfsTer25)
n.949_950insAGTTTTTTATGTAAATATTGGT
n.944_945insAGTTTTTTATGTAAATATTGGT
dbSNP
4g.134200610T>ACA358375122PABPC4Lc.410A>T (p.Lys137Met)
c.584A>T (p.Lys195Met)
n.949A>T
n.944A>T
4g.134200610T>CCA358375123PABPC4Lc.410A>G (p.Lys137Arg)
c.584A>G (p.Lys195Arg)
n.949A>G
n.944A>G
4g.134200610T>GCA358375124PABPC4Lc.410A>C (p.Lys137Thr)
c.584A>C (p.Lys195Thr)
n.949A>C
n.944A>C
4g.134200611dupCA2672091049PABPC4Lc.410dup (p.Tyr139LeufsTer17)
c.584dup (p.Tyr197LeufsTer17)
n.949dup
n.944dup
gnomAD v4
4g.134200611T>ACA358375125PABPC4Lc.409A>T (p.Lys137Ter)
c.583A>T (p.Lys195Ter)
n.948A>T
n.943A>T
4g.134200611T>CCA358375126PABPC4Lc.409A>G (p.Lys137Glu)
c.583A>G (p.Lys195Glu)
n.948A>G
n.943A>G
ClinVar
4g.134200611T>GCA358375127PABPC4Lc.409A>C (p.Lys137Gln)
c.583A>C (p.Lys195Gln)
n.948A>C
n.943A>C
4g.134200612G>ACA441360987PABPC4Lc.408C>T (p.Ser136=)
c.582C>T (p.Ser194=)
n.947C>T
n.942C>T
4g.134200612G>CCA441360988PABPC4Lc.408C>G (p.Ser136=)
c.582C>G (p.Ser194=)
n.947C>G
n.942C>G
4g.134200612G>TCA441360989PABPC4Lc.408C>A (p.Ser136=)
c.582C>A (p.Ser194=)
n.947C>A
n.942C>A
4g.134200613G>ACA358375128PABPC4Lc.407C>T (p.Ser136Phe)
c.581C>T (p.Ser194Phe)
n.946C>T
n.941C>T
dbSNP gnomAD v4
4g.134200613G>CCA358375129PABPC4Lc.407C>G (p.Ser136Cys)
c.581C>G (p.Ser194Cys)
n.946C>G
n.941C>G
4g.134200613G=CA1495814813PABPC4Lc.407C= (p.Ser136=)
c.581C= (p.Ser194=)
n.946C=
n.941C=
4g.134200613G>TCA358375130PABPC4Lc.407C>A (p.Ser136Tyr)
c.581C>A (p.Ser194Tyr)
n.946C>A
n.941C>A
4g.134200614A=CA1495814816PABPC4Lc.406T= (p.Ser136=)
c.580T= (p.Ser194=)
n.945T=
n.940T=
4g.134200614A>CCA358375131PABPC4Lc.406T>G (p.Ser136Ala)
c.580T>G (p.Ser194Ala)
n.945T>G
n.940T>G
4g.134200614A>GCA358375132PABPC4Lc.406T>C (p.Ser136Pro)
c.580T>C (p.Ser194Pro)
n.945T>C
n.940T>C
4g.134200614A>TCA106325793PABPC4Lc.406T>A (p.Ser136Thr)
c.580T>A (p.Ser194Thr)
n.945T>A
n.940T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200614dupCA2672091050PABPC4Lc.406dup (p.Ser136PhefsTer20)
c.580dup (p.Ser194PhefsTer20)
n.945dup
n.940dup
gnomAD v4
4g.134200615G>ACA106325795PABPC4Lc.405C>T (p.Gly135=)
c.579C>T (p.Gly193=)
n.944C>T
n.939C>T
dbSNP gnomAD v3 gnomAD v4
4g.134200615G>CCA106325797PABPC4Lc.405C>G (p.Gly135=)
c.579C>G (p.Gly193=)
n.944C>G
n.939C>G
dbSNP gnomAD v4
4g.134200615G=CA1495814817PABPC4Lc.405C= (p.Gly135=)
c.579C= (p.Gly193=)
n.944C=
n.939C=
4g.134200615G>TCA441360990PABPC4Lc.405C>A (p.Gly135=)
c.579C>A (p.Gly193=)
n.944C>A
n.939C>A
4g.134200616C>ACA358375133PABPC4Lc.404G>T (p.Gly135Val)
c.578G>T (p.Gly193Val)
n.943G>T
n.938G>T
4g.134200616C>GCA358375135PABPC4Lc.404G>C (p.Gly135Ala)
c.578G>C (p.Gly193Ala)
n.943G>C
n.938G>C
gnomAD v4
4g.134200616C>TCA358375134PABPC4Lc.404G>A (p.Gly135Asp)
c.578G>A (p.Gly193Asp)
n.943G>A
n.938G>A
gnomAD v4
4g.134200617C>ACA358375136PABPC4Lc.403G>T (p.Gly135Cys)
c.577G>T (p.Gly193Cys)
n.942G>T
n.937G>T
4g.134200617C=CA1495814821PABPC4Lc.403G= (p.Gly135=)
c.577G= (p.Gly193=)
n.942G=
n.937G=
4g.134200617C>GCA358375137PABPC4Lc.403G>C (p.Gly135Arg)
c.577G>C (p.Gly193Arg)
n.942G>C
n.937G>C
4g.134200617C>TCA358375138PABPC4Lc.403G>A (p.Gly135Ser)
c.577G>A (p.Gly193Ser)
n.942G>A
n.937G>A
dbSNP gnomAD v4
4g.134200618T>ACA358375139PABPC4Lc.402A>T (p.Gln134His)
c.576A>T (p.Gln192His)
n.941A>T
n.936A>T
4g.134200618T>CCA441360991PABPC4Lc.402A>G (p.Gln134=)
c.576A>G (p.Gln192=)
n.941A>G
n.936A>G
4g.134200618T>GCA358375140PABPC4Lc.402A>C (p.Gln134His)
c.576A>C (p.Gln192His)
n.941A>C
n.936A>C
dbSNP
4g.134200618T=CA1495814824PABPC4Lc.402A= (p.Gln134=)
c.576A= (p.Gln192=)
n.941A=
n.936A=
4g.134200619T>ACA358375141PABPC4Lc.401A>T (p.Gln134Leu)
c.575A>T (p.Gln192Leu)
n.940A>T
n.935A>T
4g.134200619T>CCA358375142PABPC4Lc.401A>G (p.Gln134Arg)
c.575A>G (p.Gln192Arg)
n.940A>G
n.935A>G
dbSNP gnomAD v3 gnomAD v4
4g.134200619T>GCA358375143PABPC4Lc.401A>C (p.Gln134Pro)
c.575A>C (p.Gln192Pro)
n.940A>C
n.935A>C
4g.134200619T=CA1495814829PABPC4Lc.401A= (p.Gln134=)
c.575A= (p.Gln192=)
n.940A=
n.935A=
4g.134200620G>ACA358375144PABPC4Lc.400C>T (p.Gln134Ter)
c.574C>T (p.Gln192Ter)
n.939C>T
n.934C>T
COSMIC COSMIC
4g.134200620G>CCA358375145PABPC4Lc.400C>G (p.Gln134Glu)
c.574C>G (p.Gln192Glu)
n.939C>G
n.934C>G
4g.134200620G>TCA358375146PABPC4Lc.400C>A (p.Gln134Lys)
c.574C>A (p.Gln192Lys)
n.939C>A
n.934C>A
4g.134200621A>CCA358375147PABPC4Lc.399T>G (p.Asp133Glu)
c.573T>G (p.Asp191Glu)
n.938T>G
n.933T>G
4g.134200621A>GCA441360992PABPC4Lc.399T>C (p.Asp133=)
c.573T>C (p.Asp191=)
n.938T>C
n.933T>C
4g.134200621A>TCA358375148PABPC4Lc.399T>A (p.Asp133Glu)
c.573T>A (p.Asp191Glu)
n.938T>A
n.933T>A
4g.134200622T>ACA358375151PABPC4Lc.398A>T (p.Asp133Val)
c.572A>T (p.Asp191Val)
n.937A>T
n.932A>T
4g.134200622T>CCA358375150PABPC4Lc.398A>G (p.Asp133Gly)
c.572A>G (p.Asp191Gly)
n.937A>G
n.932A>G
dbSNP gnomAD v4
4g.134200622T>GCA358375149PABPC4Lc.398A>C (p.Asp133Ala)
c.572A>C (p.Asp191Ala)
n.937A>C
n.932A>C
dbSNP gnomAD v4
4g.134200622T=CA1495814831PABPC4Lc.398A= (p.Asp133=)
c.572A= (p.Asp191=)
n.937A=
n.932A=
4g.134200623C>ACA358375152PABPC4Lc.397G>T (p.Asp133Tyr)
c.571G>T (p.Asp191Tyr)
n.936G>T
n.931G>T
4g.134200623C>GCA358375153PABPC4Lc.397G>C (p.Asp133His)
c.571G>C (p.Asp191His)
n.936G>C
n.931G>C
4g.134200623C>TCA358375154PABPC4Lc.397G>A (p.Asp133Asn)
c.571G>A (p.Asp191Asn)
n.936G>A
n.931G>A
4g.134200624A=CA1495814836PABPC4Lc.396T= (p.Asp132=)
c.570T= (p.Asp190=)
n.935T=
n.930T=
4g.134200624A>CCA358375155PABPC4Lc.396T>G (p.Asp132Glu)
c.570T>G (p.Asp190Glu)
n.935T>G
n.930T>G
gnomAD v4
4g.134200624A>GCA441360993PABPC4Lc.396T>C (p.Asp132=)
c.570T>C (p.Asp190=)
n.935T>C
n.930T>C
dbSNP gnomAD v4
4g.134200624A>TCA358375156PABPC4Lc.396T>A (p.Asp132Glu)
c.570T>A (p.Asp190Glu)
n.935T>A
n.930T>A
gnomAD v4
4g.134200625T>ACA358375157PABPC4Lc.395A>T (p.Asp132Val)
c.569A>T (p.Asp190Val)
n.934A>T
n.929A>T
4g.134200625T>CCA358375158PABPC4Lc.395A>G (p.Asp132Gly)
c.569A>G (p.Asp190Gly)
n.934A>G
n.929A>G
4g.134200625T>GCA358375159PABPC4Lc.395A>C (p.Asp132Ala)
c.569A>C (p.Asp190Ala)
n.934A>C
n.929A>C
4g.134200626C>ACA358375160PABPC4Lc.394G>T (p.Asp132Tyr)
c.568G>T (p.Asp190Tyr)
n.933G>T
n.928G>T
4g.134200626C>GCA358375161PABPC4Lc.394G>C (p.Asp132His)
c.568G>C (p.Asp190His)
n.933G>C
n.928G>C
4g.134200626C>TCA358375162PABPC4Lc.394G>A (p.Asp132Asn)
c.568G>A (p.Asp190Asn)
n.933G>A
n.928G>A
4g.134200626dupCA2672091051PABPC4Lc.394dup (p.Asp132GlyfsTer2)
c.568dup (p.Asp190GlyfsTer2)
n.933dup
n.928dup
gnomAD v4
4g.134200627A>CCA358375163PABPC4Lc.393T>G (p.Ser131Arg)
c.567T>G (p.Ser189Arg)
n.932T>G
n.927T>G
4g.134200627A>GCA441360994PABPC4Lc.393T>C (p.Ser131=)
c.567T>C (p.Ser189=)
n.932T>C
n.927T>C
4g.134200627A>TCA358375164PABPC4Lc.393T>A (p.Ser131Arg)
c.567T>A (p.Ser189Arg)
n.932T>A
n.927T>A
4g.134200628C>ACA358375166PABPC4Lc.392G>T (p.Ser131Ile)
c.566G>T (p.Ser189Ile)
n.931G>T
n.926G>T
4g.134200628C=CA1495814838PABPC4Lc.392G= (p.Ser131=)
c.566G= (p.Ser189=)
n.931G=
n.926G=
4g.134200628C>GCA358375167PABPC4Lc.392G>C (p.Ser131Thr)
c.566G>C (p.Ser189Thr)
n.931G>C
n.926G>C
4g.134200628C>TCA358375165PABPC4Lc.392G>A (p.Ser131Asn)
c.566G>A (p.Ser189Asn)
n.931G>A
n.926G>A
dbSNP gnomAD v2 gnomAD v4
4g.134200629T>ACA358375168PABPC4Lc.391A>T (p.Ser131Cys)
c.565A>T (p.Ser189Cys)
n.930A>T
n.925A>T
4g.134200629T>CCA358375169PABPC4Lc.391A>G (p.Ser131Gly)
c.565A>G (p.Ser189Gly)
n.930A>G
n.925A>G
4g.134200629T>GCA358375170PABPC4Lc.391A>C (p.Ser131Arg)
c.565A>C (p.Ser189Arg)
n.930A>C
n.925A>C
4g.134200630C>ACA358375171PABPC4Lc.390G>T (p.Met130Ile)
c.564G>T (p.Met188Ile)
n.929G>T
n.924G>T
4g.134200630C>GCA358375172PABPC4Lc.390G>C (p.Met130Ile)
c.564G>C (p.Met188Ile)
n.929G>C
n.924G>C
4g.134200630C>TCA358375173PABPC4Lc.390G>A (p.Met130Ile)
c.564G>A (p.Met188Ile)
n.929G>A
n.924G>A
gnomAD v4
4g.134200631A>CCA358375174PABPC4Lc.389T>G (p.Met130Arg)
c.563T>G (p.Met188Arg)
n.928T>G
n.923T>G
4g.134200631A>GCA358375175PABPC4Lc.389T>C (p.Met130Thr)
c.563T>C (p.Met188Thr)
n.928T>C
n.923T>C
4g.134200631A>TCA358375176PABPC4Lc.389T>A (p.Met130Lys)
c.563T>A (p.Met188Lys)
n.928T>A
n.923T>A
gnomAD v4
4g.134200632T>ACA358375177PABPC4Lc.388A>T (p.Met130Leu)
c.562A>T (p.Met188Leu)
n.927A>T
n.922A>T
dbSNP gnomAD v4
4g.134200632T>CCA358375178PABPC4Lc.388A>G (p.Met130Val)
c.562A>G (p.Met188Val)
n.927A>G
n.922A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200632T>GCA358375179PABPC4Lc.388A>C (p.Met130Leu)
c.562A>C (p.Met188Leu)
n.927A>C
n.922A>C
4g.134200632T=CA1495814841PABPC4Lc.388A= (p.Met130=)
c.562A= (p.Met188=)
n.927A=
n.922A=
4g.134200633C>ACA441360995PABPC4Lc.387G>T (p.Val129=)
c.561G>T (p.Val187=)
n.926G>T
n.921G>T
4g.134200633C=CA1495814844PABPC4Lc.387G= (p.Val129=)
c.561G= (p.Val187=)
n.926G=
n.921G=
4g.134200633C>GCA441360996PABPC4Lc.387G>C (p.Val129=)
c.561G>C (p.Val187=)
n.926G>C
n.921G>C
4g.134200633C>TCA441360997PABPC4Lc.387G>A (p.Val129=)
c.561G>A (p.Val187=)
n.926G>A
n.921G>A
dbSNP gnomAD v2 gnomAD v4
4g.134200634A>CCA358375182PABPC4Lc.386T>G (p.Val129Gly)
c.560T>G (p.Val187Gly)
n.925T>G
n.920T>G
4g.134200634A>GCA358375180PABPC4Lc.386T>C (p.Val129Ala)
c.560T>C (p.Val187Ala)
n.925T>C
n.920T>C
4g.134200634A>TCA358375181PABPC4Lc.386T>A (p.Val129Glu)
c.560T>A (p.Val187Glu)
n.925T>A
n.920T>A
4g.134200634dupCA2672091052PABPC4Lc.386dup (p.Met130AspfsTer3)
c.560dup (p.Met188AspfsTer3)
n.925dup
n.920dup
gnomAD v4
4g.134200635C>ACA358375183PABPC4Lc.385G>T (p.Val129Leu)
c.559G>T (p.Val187Leu)
n.924G>T
n.919G>T
gnomAD v4
4g.134200635C>GCA358375184PABPC4Lc.385G>C (p.Val129Leu)
c.559G>C (p.Val187Leu)
n.924G>C
n.919G>C
4g.134200635C>TCA358375185PABPC4Lc.385G>A (p.Val129Met)
c.559G>A (p.Val187Met)
n.924G>A
n.919G>A
4g.134200636C>ACA358375186PABPC4Lc.384G>T (p.Lys128Asn)
c.558G>T (p.Lys186Asn)
n.923G>T
n.918G>T
4g.134200636C=CA1495814848PABPC4Lc.384G= (p.Lys128=)
c.558G= (p.Lys186=)
n.923G=
n.918G=
4g.134200636C>GCA106325799PABPC4Lc.384G>C (p.Lys128Asn)
c.558G>C (p.Lys186Asn)
n.923G>C
n.918G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200636C>TCA441360998PABPC4Lc.384G>A (p.Lys128=)
c.558G>A (p.Lys186=)
n.923G>A
n.918G>A
gnomAD v4
4g.134200637T>ACA358375187PABPC4Lc.383A>T (p.Lys128Met)
c.557A>T (p.Lys186Met)
n.922A>T
n.917A>T
4g.134200637T>CCA358375188PABPC4Lc.383A>G (p.Lys128Arg)
c.557A>G (p.Lys186Arg)
n.922A>G
n.917A>G
dbSNP gnomAD v2 gnomAD v4
4g.134200637T>GCA358375189PABPC4Lc.383A>C (p.Lys128Thr)
c.557A>C (p.Lys186Thr)
n.922A>C
n.917A>C
4g.134200637T=CA1495814850PABPC4Lc.383A= (p.Lys128=)
c.557A= (p.Lys186=)
n.922A=
n.917A=
4g.134200638T>ACA358375190PABPC4Lc.382A>T (p.Lys128Ter)
c.556A>T (p.Lys186Ter)
n.921A>T
n.916A>T
COSMIC COSMIC
4g.134200638T>CCA358375191PABPC4Lc.382A>G (p.Lys128Glu)
c.556A>G (p.Lys186Glu)
n.921A>G
n.916A>G
gnomAD v4
4g.134200638T>GCA358375192PABPC4Lc.382A>C (p.Lys128Gln)
c.556A>C (p.Lys186Gln)
n.921A>C
n.916A>C
4g.134200639G>ACA441360999PABPC4Lc.381C>T (p.Ser127=)
c.555C>T (p.Ser185=)
n.920C>T
n.915C>T
4g.134200639G>CCA441361000PABPC4Lc.381C>G (p.Ser127=)
c.555C>G (p.Ser185=)
n.920C>G
n.915C>G
4g.134200639G>TCA441361001PABPC4Lc.381C>A (p.Ser127=)
c.555C>A (p.Ser185=)
n.920C>A
n.915C>A
4g.134200640G>ACA358375195PABPC4Lc.380C>T (p.Ser127Phe)
c.554C>T (p.Ser185Phe)
n.919C>T
n.914C>T
4g.134200640G>CCA358375194PABPC4Lc.380C>G (p.Ser127Cys)
c.554C>G (p.Ser185Cys)
n.919C>G
n.914C>G
4g.134200640G>TCA358375193PABPC4Lc.380C>A (p.Ser127Tyr)
c.554C>A (p.Ser185Tyr)
n.919C>A
n.914C>A
4g.134200641A=CA1495814852PABPC4Lc.379T= (p.Ser127=)
c.553T= (p.Ser185=)
n.918T=
n.913T=
4g.134200641A>CCA358375196PABPC4Lc.379T>G (p.Ser127Ala)
c.553T>G (p.Ser185Ala)
n.918T>G
n.913T>G
4g.134200641A>GCA358375198PABPC4Lc.379T>C (p.Ser127Pro)
c.553T>C (p.Ser185Pro)
n.918T>C
n.913T>C
4g.134200641A>TCA358375197PABPC4Lc.379T>A (p.Ser127Thr)
c.553T>A (p.Ser185Thr)
n.918T>A
n.913T>A
dbSNP gnomAD v2 gnomAD v4
4g.134200642G>ACA441361002PABPC4Lc.378C>T (p.Ser126=)
c.552C>T (p.Ser184=)
n.917C>T
n.912C>T
4g.134200642G>CCA441361003PABPC4Lc.378C>G (p.Ser126=)
c.552C>G (p.Ser184=)
n.917C>G
n.912C>G
4g.134200642G>TCA441361004PABPC4Lc.378C>A (p.Ser126=)
c.552C>A (p.Ser184=)
n.917C>A
n.912C>A
4g.134200643G>ACA358375199PABPC4Lc.377C>T (p.Ser126Phe)
c.551C>T (p.Ser184Phe)
n.916C>T
n.911C>T
dbSNP gnomAD v2 COSMIC COSMIC
4g.134200643G>CCA358375201PABPC4Lc.377C>G (p.Ser126Cys)
c.551C>G (p.Ser184Cys)
n.916C>G
n.911C>G
4g.134200643G=CA1495814854PABPC4Lc.377C= (p.Ser126=)
c.551C= (p.Ser184=)
n.916C=
n.911C=
4g.134200643G>TCA358375200PABPC4Lc.377C>A (p.Ser126Tyr)
c.551C>A (p.Ser184Tyr)
n.916C>A
n.911C>A
4g.134200644A>CCA358375202PABPC4Lc.376T>G (p.Ser126Ala)
c.550T>G (p.Ser184Ala)
n.915T>G
n.910T>G
4g.134200644A>GCA358375203PABPC4Lc.376T>C (p.Ser126Pro)
c.550T>C (p.Ser184Pro)
n.915T>C
n.910T>C
4g.134200644A>TCA358375204PABPC4Lc.376T>A (p.Ser126Thr)
c.550T>A (p.Ser184Thr)
n.915T>A
n.910T>A
4g.134200645A>CCA441361007PABPC4Lc.375T>G (p.Leu125=)
c.549T>G (p.Leu183=)
n.914T>G
n.909T>G
4g.134200645A>GCA441361006PABPC4Lc.375T>C (p.Leu125=)
c.549T>C (p.Leu183=)
n.914T>C
n.909T>C
4g.134200645A>TCA441361005PABPC4Lc.375T>A (p.Leu125=)
c.549T>A (p.Leu183=)
n.914T>A
n.909T>A
4g.134200646A>CCA358375205PABPC4Lc.374T>G (p.Leu125Arg)
c.548T>G (p.Leu183Arg)
n.913T>G
n.908T>G
4g.134200646A>GCA358375206PABPC4Lc.374T>C (p.Leu125Pro)
c.548T>C (p.Leu183Pro)
n.913T>C
n.908T>C
4g.134200646A>TCA358375207PABPC4Lc.374T>A (p.Leu125His)
c.548T>A (p.Leu183His)
n.913T>A
n.908T>A
4g.134200647G>ACA358375208PABPC4Lc.373C>T (p.Leu125Phe)
c.547C>T (p.Leu183Phe)
n.912C>T
n.907C>T
4g.134200647G>CCA358375209PABPC4Lc.373C>G (p.Leu125Val)
c.547C>G (p.Leu183Val)
n.912C>G
n.907C>G
gnomAD v4
4g.134200647G=CA1495814859PABPC4Lc.373C= (p.Leu125=)
c.547C= (p.Leu183=)
n.912C=
n.907C=
4g.134200647G>TCA358375210PABPC4Lc.373C>A (p.Leu125Ile)
c.547C>A (p.Leu183Ile)
n.912C>A
n.907C>A
dbSNP gnomAD v3 gnomAD v4
4g.134200648G>ACA441361009PABPC4Lc.372C>T (p.Ile124=)
c.546C>T (p.Ile182=)
n.911C>T
n.906C>T
dbSNP gnomAD v2 gnomAD v4
4g.134200648G>CCA358375211PABPC4Lc.372C>G (p.Ile124Met)
c.546C>G (p.Ile182Met)
n.911C>G
n.906C>G
4g.134200648G=CA1495814860PABPC4Lc.372C= (p.Ile124=)
c.546C= (p.Ile182=)
n.911C=
n.906C=
4g.134200648G>TCA441361008PABPC4Lc.372C>A (p.Ile124=)
c.546C>A (p.Ile182=)
n.911C>A
n.906C>A
4g.134200649A>CCA358375212PABPC4Lc.371T>G (p.Ile124Ser)
c.545T>G (p.Ile182Ser)
n.910T>G
n.905T>G
4g.134200649A>GCA358375213PABPC4Lc.371T>C (p.Ile124Thr)
c.545T>C (p.Ile182Thr)
n.910T>C
n.905T>C
4g.134200649A>TCA358375214PABPC4Lc.371T>A (p.Ile124Asn)
c.545T>A (p.Ile182Asn)
n.910T>A
n.905T>A
4g.134200650T>ACA358375217PABPC4Lc.370A>T (p.Ile124Phe)
c.544A>T (p.Ile182Phe)
n.909A>T
n.904A>T
4g.134200650T>CCA358375215PABPC4Lc.370A>G (p.Ile124Val)
c.544A>G (p.Ile182Val)
n.909A>G
n.904A>G
gnomAD v4
4g.134200650T>GCA358375216PABPC4Lc.370A>C (p.Ile124Leu)
c.544A>C (p.Ile182Leu)
n.909A>C
n.904A>C
4g.134200651C>ACA358375218PABPC4Lc.369G>T (p.Lys123Asn)
c.543G>T (p.Lys181Asn)
n.908G>T
n.903G>T
4g.134200651C>GCA358375219PABPC4Lc.369G>C (p.Lys123Asn)
c.543G>C (p.Lys181Asn)
n.908G>C
n.903G>C
gnomAD v4
4g.134200651C>TCA441361010PABPC4Lc.369G>A (p.Lys123=)
c.543G>A (p.Lys181=)
n.908G>A
n.903G>A
4g.134200652T>ACA358375220PABPC4Lc.368A>T (p.Lys123Met)
c.542A>T (p.Lys181Met)
n.907A>T
n.902A>T
4g.134200652T>CCA358375221PABPC4Lc.368A>G (p.Lys123Arg)
c.542A>G (p.Lys181Arg)
n.907A>G
n.902A>G
4g.134200652T>GCA358375222PABPC4Lc.368A>C (p.Lys123Thr)
c.542A>C (p.Lys181Thr)
n.907A>C
n.902A>C
dbSNP gnomAD v3 gnomAD v4
4g.134200652T=CA1495814862PABPC4Lc.368A= (p.Lys123=)
c.542A= (p.Lys181=)
n.907A=
n.902A=
4g.134200653T>ACA358375223PABPC4Lc.367A>T (p.Lys123Ter)
c.541A>T (p.Lys181Ter)
n.906A>T
n.901A>T
4g.134200653T>CCA358375224PABPC4Lc.367A>G (p.Lys123Glu)
c.541A>G (p.Lys181Glu)
n.906A>G
n.901A>G
4g.134200653T>GCA358375225PABPC4Lc.367A>C (p.Lys123Gln)
c.541A>C (p.Lys181Gln)
n.906A>C
n.901A>C
4g.134200654T>ACA441361011PABPC4Lc.366A>T (p.Gly122=)
c.540A>T (p.Gly180=)
n.905A>T
n.900A>T
4g.134200654T>CCA3081073PABPC4Lc.366A>G (p.Gly122=)
c.540A>G (p.Gly180=)
n.905A>G
n.900A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200654T>GCA441361012PABPC4Lc.366A>C (p.Gly122=)
c.540A>C (p.Gly180=)
n.905A>C
n.900A>C
dbSNP
4g.134200654T=CA1495814865PABPC4Lc.366A= (p.Gly122=)
c.540A= (p.Gly180=)
n.905A=
n.900A=
4g.134200655C>ACA358375226PABPC4Lc.365G>T (p.Gly122Val)
c.539G>T (p.Gly180Val)
n.904G>T
n.899G>T
4g.134200655C>GCA358375227PABPC4Lc.365G>C (p.Gly122Ala)
c.539G>C (p.Gly180Ala)
n.904G>C
n.899G>C
4g.134200655C>TCA358375228PABPC4Lc.365G>A (p.Gly122Glu)
c.539G>A (p.Gly180Glu)
n.904G>A
n.899G>A
4g.134200656C>ACA358375229PABPC4Lc.364G>T (p.Gly122Ter)
c.538G>T (p.Gly180Ter)
n.903G>T
n.898G>T
4g.134200656C>GCA358375231PABPC4Lc.364G>C (p.Gly122Arg)
c.538G>C (p.Gly180Arg)
n.903G>C
n.898G>C
4g.134200656C>TCA358375230PABPC4Lc.364G>A (p.Gly122Arg)
c.538G>A (p.Gly180Arg)
n.903G>A
n.898G>A
4g.134200657A>CCA358375232PABPC4Lc.363T>G (p.Phe121Leu)
c.537T>G (p.Phe179Leu)
n.902T>G
n.897T>G
4g.134200657A>GCA441361013PABPC4Lc.363T>C (p.Phe121=)
c.537T>C (p.Phe179=)
n.902T>C
n.897T>C
4g.134200657A>TCA358375233PABPC4Lc.363T>A (p.Phe121Leu)
c.537T>A (p.Phe179Leu)
n.902T>A
n.897T>A
4g.134200660delCA2672091053PABPC4Lc.363del (p.Phe121LeufsTer9)
c.537del (p.Phe179LeufsTer9)
n.902del
n.897del
gnomAD v4
4g.134200658A>CCA358375234PABPC4Lc.362T>G (p.Phe121Cys)
c.536T>G (p.Phe179Cys)
n.901T>G
n.896T>G
4g.134200658A>GCA358375235PABPC4Lc.362T>C (p.Phe121Ser)
c.536T>C (p.Phe179Ser)
n.901T>C
n.896T>C
4g.134200658A>TCA358375236PABPC4Lc.362T>A (p.Phe121Tyr)
c.536T>A (p.Phe179Tyr)
n.901T>A
n.896T>A
4g.134200659A>CCA358375237PABPC4Lc.361T>G (p.Phe121Val)
c.535T>G (p.Phe179Val)
n.900T>G
n.895T>G
4g.134200659A>GCA358375238PABPC4Lc.361T>C (p.Phe121Leu)
c.535T>C (p.Phe179Leu)
n.900T>C
n.895T>C
4g.134200659A>TCA358375239PABPC4Lc.361T>A (p.Phe121Ile)
c.535T>A (p.Phe179Ile)
n.900T>A
n.895T>A
4g.134200660A>CCA441361014PABPC4Lc.360T>G (p.Ala120=)
c.534T>G (p.Ala178=)
n.899T>G
n.894T>G
4g.134200660A>GCA441361015PABPC4Lc.360T>C (p.Ala120=)
c.534T>C (p.Ala178=)
n.899T>C
n.894T>C
4g.134200660A>TCA441361016PABPC4Lc.360T>A (p.Ala120=)
c.534T>A (p.Ala178=)
n.899T>A
n.894T>A
4g.134200661G>ACA358375240PABPC4Lc.359C>T (p.Ala120Val)
c.533C>T (p.Ala178Val)
n.898C>T
n.893C>T
4g.134200661G>CCA358375241PABPC4Lc.359C>G (p.Ala120Gly)
c.533C>G (p.Ala178Gly)
n.898C>G
n.893C>G
4g.134200661G>TCA358375242PABPC4Lc.359C>A (p.Ala120Asp)
c.533C>A (p.Ala178Asp)
n.898C>A
n.893C>A
gnomAD v4
4g.134200662delCA2672091054PABPC4Lc.358del (p.Ala120LeufsTer10)
c.532del (p.Ala178LeufsTer10)
n.897del
n.892del
gnomAD v4
4g.134200662C>ACA358375245PABPC4Lc.358G>T (p.Ala120Ser)
c.532G>T (p.Ala178Ser)
n.897G>T
n.892G>T
4g.134200662C>GCA358375243PABPC4Lc.358G>C (p.Ala120Pro)
c.532G>C (p.Ala178Pro)
n.897G>C
n.892G>C
4g.134200662C>TCA358375244PABPC4Lc.358G>A (p.Ala120Thr)
c.532G>A (p.Ala178Thr)
n.897G>A
n.892G>A
4g.134200663T>ACA441361017PABPC4Lc.357A>T (p.Ser119=)
c.531A>T (p.Ser177=)
n.896A>T
n.891A>T
4g.134200663T>CCA441361018PABPC4Lc.357A>G (p.Ser119=)
c.531A>G (p.Ser177=)
n.896A>G
n.891A>G
4g.134200663T>GCA441361019PABPC4Lc.357A>C (p.Ser119=)
c.531A>C (p.Ser177=)
n.896A>C
n.891A>C
dbSNP gnomAD v2 gnomAD v4
4g.134200663T=CA1495814868PABPC4Lc.357A= (p.Ser119=)
c.531A= (p.Ser177=)
n.896A=
n.891A=
4g.134200664G>ACA358375246PABPC4Lc.356C>T (p.Ser119Leu)
c.530C>T (p.Ser177Leu)
n.895C>T
n.890C>T
4g.134200664G>CCA358375247PABPC4Lc.356C>G (p.Ser119Ter)
c.530C>G (p.Ser177Ter)
n.895C>G
n.890C>G
4g.134200664G=CA1495814872PABPC4Lc.356C= (p.Ser119=)
c.530C= (p.Ser177=)
n.895C=
n.890C=
4g.134200664G>TCA358375248PABPC4Lc.356C>A (p.Ser119Ter)
c.530C>A (p.Ser177Ter)
n.895C>A
n.890C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200665A>CCA358375249PABPC4Lc.355T>G (p.Ser119Ala)
c.529T>G (p.Ser177Ala)
n.894T>G
n.889T>G
4g.134200665A>GCA358375250PABPC4Lc.355T>C (p.Ser119Pro)
c.529T>C (p.Ser177Pro)
n.894T>C
n.889T>C
gnomAD v4
4g.134200665A>TCA358375251PABPC4Lc.355T>A (p.Ser119Thr)
c.529T>A (p.Ser177Thr)
n.894T>A
n.889T>A
4g.134200669delCA2604810259PABPC4Lc.355del (p.Ser119GlnfsTer11)
c.529del (p.Ser177GlnfsTer11)
n.894del
n.889del
dbSNP gnomAD v3 gnomAD v4
4g.134200666A>CCA358375252PABPC4Lc.354T>G (p.Phe118Leu)
c.528T>G (p.Phe176Leu)
n.893T>G
n.888T>G
4g.134200666A>GCA441361020PABPC4Lc.354T>C (p.Phe118=)
c.528T>C (p.Phe176=)
n.893T>C
n.888T>C
4g.134200666A>TCA358375253PABPC4Lc.354T>A (p.Phe118Leu)
c.528T>A (p.Phe176Leu)
n.893T>A
n.888T>A
4g.134200667A>CCA358375254PABPC4Lc.353T>G (p.Phe118Cys)
c.527T>G (p.Phe176Cys)
n.892T>G
n.887T>G
4g.134200667A>GCA358375255PABPC4Lc.353T>C (p.Phe118Ser)
c.527T>C (p.Phe176Ser)
n.892T>C
n.887T>C
4g.134200667A>TCA358375256PABPC4Lc.353T>A (p.Phe118Tyr)
c.527T>A (p.Phe176Tyr)
n.892T>A
n.887T>A
4g.134200668A>CCA358375258PABPC4Lc.352T>G (p.Phe118Val)
c.526T>G (p.Phe176Val)
n.891T>G
n.886T>G
4g.134200668A>GCA358375259PABPC4Lc.352T>C (p.Phe118Leu)
c.526T>C (p.Phe176Leu)
n.891T>C
n.886T>C
4g.134200668A>TCA358375257PABPC4Lc.352T>A (p.Phe118Ile)
c.526T>A (p.Phe176Ile)
n.891T>A
n.886T>A
4g.134200669A=CA1495814876PABPC4Lc.351T= (p.His117=)
c.525T= (p.His175=)
n.890T=
n.885T=
4g.134200669A>CCA358375261PABPC4Lc.351T>G (p.His117Gln)
c.525T>G (p.His175Gln)
n.890T>G
n.885T>G
4g.134200669A>GCA106325802PABPC4Lc.351T>C (p.His117=)
c.525T>C (p.His175=)
n.890T>C
n.885T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200669A>TCA358375260PABPC4Lc.351T>A (p.His117Gln)
c.525T>A (p.His175Gln)
n.890T>A
n.885T>A
4g.134200670T>ACA358375262PABPC4Lc.350A>T (p.His117Leu)
c.524A>T (p.His175Leu)
n.889A>T
n.884A>T
4g.134200670T>CCA358375263PABPC4Lc.350A>G (p.His117Arg)
c.524A>G (p.His175Arg)
n.889A>G
n.884A>G
gnomAD v4
4g.134200670T>GCA358375264PABPC4Lc.350A>C (p.His117Pro)
c.524A>C (p.His175Pro)
n.889A>C
n.884A>C
4g.134200671G>ACA358375265PABPC4Lc.349C>T (p.His117Tyr)
c.523C>T (p.His175Tyr)
n.888C>T
n.883C>T
dbSNP gnomAD v3 gnomAD v4
4g.134200671G>CCA358375266PABPC4Lc.349C>G (p.His117Asp)
c.523C>G (p.His175Asp)
n.888C>G
n.883C>G
4g.134200671G=CA1495814879PABPC4Lc.349C= (p.His117=)
c.523C= (p.His175=)
n.888C=
n.883C=
4g.134200671G>TCA358375267PABPC4Lc.349C>A (p.His117Asn)
c.523C>A (p.His175Asn)
n.888C>A
n.883C>A
gnomAD v4
4g.134200672T>ACA358375268PABPC4Lc.348A>T (p.Glu116Asp)
c.522A>T (p.Glu174Asp)
n.887A>T
n.882A>T
4g.134200672T>CCA441361021PABPC4Lc.348A>G (p.Glu116=)
c.522A>G (p.Glu174=)
n.887A>G
n.882A>G
4g.134200672T>GCA358375269PABPC4Lc.348A>C (p.Glu116Asp)
c.522A>C (p.Glu174Asp)
n.887A>C
n.882A>C
4g.134200673T>ACA358375270PABPC4Lc.347A>T (p.Glu116Val)
c.521A>T (p.Glu174Val)
n.886A>T
n.881A>T
4g.134200673T>CCA358375271PABPC4Lc.347A>G (p.Glu116Gly)
c.521A>G (p.Glu174Gly)
n.886A>G
n.881A>G
4g.134200673T>GCA358375272PABPC4Lc.347A>C (p.Glu116Ala)
c.521A>C (p.Glu174Ala)
n.886A>C
n.881A>C
4g.134200674C>ACA358375275PABPC4Lc.346G>T (p.Glu116Ter)
c.520G>T (p.Glu174Ter)
n.885G>T
n.880G>T
4g.134200674C=CA1495814882PABPC4Lc.346G= (p.Glu116=)
c.520G= (p.Glu174=)
n.885G=
n.880G=
4g.134200674C>GCA358375273PABPC4Lc.346G>C (p.Glu116Gln)
c.520G>C (p.Glu174Gln)
n.885G>C
n.880G>C
4g.134200674C>TCA358375274PABPC4Lc.346G>A (p.Glu116Lys)
c.520G>A (p.Glu174Lys)
n.885G>A
n.880G>A
dbSNP gnomAD v2 gnomAD v4
4g.134200675A=CA1495814884PABPC4Lc.345T= (p.Tyr115=)
c.519T= (p.Tyr173=)
n.884T=
n.879T=
4g.134200675A>CCA358375276PABPC4Lc.345T>G (p.Tyr115Ter)
c.519T>G (p.Tyr173Ter)
n.884T>G
n.879T>G
4g.134200675A>GCA441361022PABPC4Lc.345T>C (p.Tyr115=)
c.519T>C (p.Tyr173=)
n.884T>C
n.879T>C
dbSNP
4g.134200675A>TCA358375277PABPC4Lc.345T>A (p.Tyr115Ter)
c.519T>A (p.Tyr173Ter)
n.884T>A
n.879T>A
4g.134200676T>ACA358375278PABPC4Lc.344A>T (p.Tyr115Phe)
c.518A>T (p.Tyr173Phe)
n.883A>T
n.878A>T
4g.134200676T>CCA358375279PABPC4Lc.344A>G (p.Tyr115Cys)
c.518A>G (p.Tyr173Cys)
n.883A>G
n.878A>G
gnomAD v4
4g.134200676T>GCA358375280PABPC4Lc.344A>C (p.Tyr115Ser)
c.518A>C (p.Tyr173Ser)
n.883A>C
n.878A>C
4g.134200677A>CCA358375281PABPC4Lc.343T>G (p.Tyr115Asp)
c.517T>G (p.Tyr173Asp)
n.882T>G
n.877T>G
gnomAD v4
4g.134200677A>GCA358375282PABPC4Lc.343T>C (p.Tyr115His)
c.517T>C (p.Tyr173His)
n.882T>C
n.877T>C
4g.134200677A>TCA358375283PABPC4Lc.343T>A (p.Tyr115Asn)
c.517T>A (p.Tyr173Asn)
n.882T>A
n.877T>A
4g.134200678A>CCA441361025PABPC4Lc.342T>G (p.Leu114=)
c.516T>G (p.Leu172=)
n.881T>G
n.876T>G
4g.134200678A>GCA441361024PABPC4Lc.342T>C (p.Leu114=)
c.516T>C (p.Leu172=)
n.881T>C
n.876T>C
gnomAD v4
4g.134200678A>TCA441361023PABPC4Lc.342T>A (p.Leu114=)
c.516T>A (p.Leu172=)
n.881T>A
n.876T>A

Number of alleles fetched