Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.40092583_40097170delCA915941212PPT1c.69_129-76del
c.69_125-79del
c.69_125-76del
c.69_125-3071del
c.43_405-76del
c.47_103-76del
n.81_137-76del
c.69_212-76del
c.69_125-83del
c.69_124+4532del
c.69_125-526del
 ClinVar
1g.40097116C>ACA339850651PPT1c.123G>T (p.Met41Ile)
c.97G>T
c.101G>T
n.135G>T
1g.40097116C=CA1164248358PPT1c.123G= (p.Met41=)
c.97G=
c.101G=
n.135G=
1g.40097116C>GCA339850652PPT1c.123G>C (p.Met41Ile)
c.97G>C
c.101G>C
n.135G>C
1g.40097116C>TCA339850653PPT1c.123G>A (p.Met41Ile)
c.97G>A
c.101G>A
n.135G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097117A>CCA339850654PPT1c.122T>G (p.Met41Arg)
c.96T>G
c.100T>G
n.134T>G
 COSMIC
1g.40097117A>GCA339850655PPT1c.122T>C (p.Met41Thr)
c.96T>C
c.100T>C
n.134T>C
1g.40097117A>TCA339850656PPT1c.122T>A (p.Met41Lys)
c.96T>A
c.100T>A
n.134T>A
1g.40097118T>ACA339850657PPT1c.121A>T (p.Met41Leu)
c.95A>T
c.99A>T
n.133A>T
1g.40097118T>CCA339850658PPT1c.121A>G (p.Met41Val)
c.95A>G
c.99A>G
n.133A>G
1g.40097118T>GCA339850659PPT1c.121A>C (p.Met41Leu)
c.95A>C
c.99A>C
n.133A>C
1g.40097119C>ACA417323178PPT1c.120G>T (p.Gly40=)
c.94G>T
c.98G>T
n.132G>T
1g.40097119C=CA1164248360PPT1c.120G= (p.Gly40=)
c.94G=
c.98G=
n.132G=
1g.40097119C>GCA417323180PPT1c.120G>C (p.Gly40=)
c.94G>C
c.98G>C
n.132G>C
1g.40097119C>TCA417323179PPT1c.120G>A (p.Gly40=)
c.94G>A
c.98G>A
n.132G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097121_40097126delCA2573132333PPT1c.115_120del (p.His39_Gly40del)
c.89_94del
c.93_98del
n.127_132del
 ClinVar dbSNP
1g.40097120C>ACA339850660PPT1c.119G>T (p.Gly40Val)
c.93G>T
c.97G>T
n.131G>T
1g.40097120C>GCA339850661PPT1c.119G>C (p.Gly40Ala)
c.93G>C
c.97G>C
n.131G>C
1g.40097120C>TCA339850662PPT1c.119G>A (p.Gly40Glu)
c.93G>A
c.97G>A
n.131G>A
1g.40097121C>ACA339850665PPT1c.118G>T (p.Gly40Trp)
c.92G>T
c.96G>T
n.130G>T
1g.40097121C=CA1164248363PPT1c.118G= (p.Gly40=)
c.92G=
c.96G=
n.130G=
1g.40097121C>GCA339850664PPT1c.118G>C (p.Gly40Arg)
c.92G>C
c.96G>C
n.130G>C
1g.40097121C>TCA339850663PPT1c.118G>A (p.Gly40Arg)
c.92G>A
c.96G>A
n.130G>A
 ClinVar dbSNP
1g.40097121_40097122insCACCAAACACACCCAACACCA2743291756PPT1c.118_119insTGTTGGGTGTGTTTGGTGG (p.Gly40ValfsTer10)
c.118_119insTGTTGGGTGTGTTTGGTGG (p.Gly40ValfsTer21)
c.118_119insTGTTGGGTGTGTTTGGTGG (p.Gly40ValfsTer22)
c.118_119insTGTTGGGTGTGTTTGGTGG (p.Gly40ValfsTer25)
c.92_93insTGTTGGGTGTGTTTGGTGG
c.96_97insTGTTGGGTGTGTTTGGTGG
n.130_131insTGTTGGGTGTGTTTGGTGG
c.118_119insTGTTGGGTGTGTTTGGTGG (p.Gly40ValfsTer?)
1g.40097122A=CA1144228761PPT1c.117T= (p.His39=)
c.91T=
c.95T=
n.129T=
1g.40097122A>CCA339850666PPT1c.117T>G (p.His39Gln)
c.91T>G
c.95T>G
n.129T>G
1g.40097122A>GCA417323184PPT1c.117T>C (p.His39=)
c.91T>C
c.95T>C
n.129T>C
1g.40097122A>TCA263468PPT1c.117T>A (p.His39Gln)
c.91T>A
c.95T>A
n.129T>A
 ClinVar dbSNP
1g.40097123T>ACA339850667PPT1c.116A>T (p.His39Leu)
c.90A>T
c.94A>T
n.128A>T
1g.40097123T>CCA339850668PPT1c.116A>G (p.His39Arg)
c.90A>G
c.94A>G
n.128A>G
1g.40097123T>GCA789833PPT1c.116A>C (p.His39Pro)
c.90A>C
c.94A>C
n.128A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097123T=CA1164248367PPT1c.116A= (p.His39=)
c.90A=
c.94A=
n.128A=
1g.40097124G>ACA339850669PPT1c.115C>T (p.His39Tyr)
c.89C>T
c.93C>T
n.127C>T
1g.40097124G>CCA339850670PPT1c.115C>G (p.His39Asp)
c.89C>G
c.93C>G
n.127C>G
1g.40097124G>TCA339850671PPT1c.115C>A (p.His39Asn)
c.89C>A
c.93C>A
n.127C>A
1g.40097124_40097125delinsGCCA1164248368PPT1c.114_115delinsGC (p.Trp38=)
c.88_89delinsGC
c.92_93delinsGC
n.126_127delinsGC
1g.40097125C>ACA263461PPT1c.114G>T (p.Trp38Cys)
c.88G>T
c.92G>T
n.126G>T
 ClinVar dbSNP
1g.40097125C=CA1144228764PPT1c.114G= (p.Trp38=)
c.88G=
c.92G=
n.126G=
1g.40097125C>GCA339850672PPT1c.114G>C (p.Trp38Cys)
c.88G>C
c.92G>C
n.126G>C
1g.40097125C>TCA263458PPT1c.114G>A (p.Trp38Ter)
c.88G>A
c.92G>A
n.126G>A
 ClinVar dbSNP
1g.40097125_40097126delinsCCCA1144228763PPT1c.113_114delinsGG (p.Trp38=)
c.87_88delinsGG
c.91_92delinsGG
n.125_126delinsGG
1g.40097126delCA263467PPT1c.114del (p.Trp38CysfsTer?)
c.114del (p.Trp38CysfsTer11)
c.114del (p.Trp38CysfsTer12)
c.114del (p.Trp38CysfsTer27)
c.88del
c.92del
n.126del
c.114del (p.Trp38CysfsTer15)
c.114del (p.Trp38CysfsTer13)
c.114del (p.Trp38CysfsTer9)
 ClinVar dbSNP gnomAD v4
1g.40097126C>ACA339850673PPT1c.113G>T (p.Trp38Leu)
c.87G>T
c.91G>T
n.125G>T
1g.40097126C=CA1164248376PPT1c.113G= (p.Trp38=)
c.87G=
c.91G=
n.125G=
1g.40097126C>GCA21020975PPT1c.113G>C (p.Trp38Ser)
c.87G>C
c.91G>C
n.125G>C
 ClinVar dbSNP
1g.40097126C>TCA21020979PPT1c.113G>A (p.Trp38Ter)
c.87G>A
c.91G>A
n.125G>A
 dbSNP
1g.40097127delCA2580062747PPT1c.112del (p.Trp38GlyfsTer?)
c.112del (p.Trp38GlyfsTer11)
c.112del (p.Trp38GlyfsTer12)
c.112del (p.Trp38GlyfsTer27)
c.86del
c.90del
n.124del
c.112del (p.Trp38GlyfsTer15)
c.112del (p.Trp38GlyfsTer13)
c.112del (p.Trp38GlyfsTer9)
 ClinVar
1g.40097127A>CCA339850674PPT1c.112T>G (p.Trp38Gly)
c.86T>G
c.90T>G
n.124T>G
1g.40097127A>GCA339850676PPT1c.112T>C (p.Trp38Arg)
c.86T>C
c.90T>C
n.124T>C
1g.40097127A>TCA339850675PPT1c.112T>A (p.Trp38Arg)
c.86T>A
c.90T>A
n.124T>A
1g.40097128G>ACA417323186PPT1c.111C>T (p.Ile37=)
c.85C>T
c.89C>T
n.123C>T
1g.40097128G>CCA339850677PPT1c.111C>G (p.Ile37Met)
c.85C>G
c.89C>G
n.123C>G
1g.40097128G>TCA417323187PPT1c.111C>A (p.Ile37=)
c.85C>A
c.89C>A
n.123C>A
1g.40097129A>CCA339850678PPT1c.110T>G (p.Ile37Ser)
c.84T>G
c.88T>G
n.122T>G
1g.40097129A>GCA339850679PPT1c.110T>C (p.Ile37Thr)
c.84T>C
c.88T>C
n.122T>C
1g.40097129A>TCA339850680PPT1c.110T>A (p.Ile37Asn)
c.84T>A
c.88T>A
n.122T>A
1g.40097130T>ACA339850681PPT1c.109A>T (p.Ile37Phe)
c.83A>T
c.87A>T
n.121A>T
1g.40097130T>CCA789834PPT1c.109A>G (p.Ile37Val)
c.83A>G
c.87A>G
n.121A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097130T>GCA339850682PPT1c.109A>C (p.Ile37Leu)
c.83A>C
c.87A>C
n.121A>C
1g.40097130T=CA1164248379PPT1c.109A= (p.Ile37=)
c.83A=
c.87A=
n.121A=
1g.40097131C>ACA417323189PPT1c.108G>T (p.Val36=)
c.82G>T
c.86G>T
n.120G>T
 ClinVar dbSNP
1g.40097131C>GCA417323190PPT1c.108G>C (p.Val36=)
c.82G>C
c.86G>C
n.120G>C
1g.40097131C>TCA417323191PPT1c.108G>A (p.Val36=)
c.82G>A
c.86G>A
n.120G>A
1g.40097132A=CA1164248381PPT1c.107T= (p.Val36=)
c.81T=
c.85T=
n.119T=
1g.40097132A>CCA339850683PPT1c.107T>G (p.Val36Gly)
c.81T>G
c.85T>G
n.119T>G
 dbSNP
1g.40097132A>GCA339850684PPT1c.107T>C (p.Val36Ala)
c.81T>C
c.85T>C
n.119T>C
1g.40097132A>TCA339850685PPT1c.107T>A (p.Val36Glu)
c.81T>A
c.85T>A
n.119T>A
1g.40097133C>ACA339850688PPT1c.106G>T (p.Val36Leu)
c.80G>T
c.84G>T
n.118G>T
1g.40097133C>GCA339850687PPT1c.106G>C (p.Val36Leu)
c.80G>C
c.84G>C
n.118G>C
1g.40097133C>TCA339850686PPT1c.106G>A (p.Val36Met)
c.80G>A
c.84G>A
n.118G>A
1g.40097134C>ACA339850689PPT1c.105G>T (p.Leu35Phe)
c.79G>T
c.83G>T
n.117G>T
1g.40097134C=CA1164248383PPT1c.105G= (p.Leu35=)
c.79G=
c.83G=
n.117G=
1g.40097134C>GCA339850690PPT1c.105G>C (p.Leu35Phe)
c.79G>C
c.83G>C
n.117G>C
1g.40097134C>TCA417323192PPT1c.105G>A (p.Leu35=)
c.79G>A
c.83G>A
n.117G>A
 dbSNP gnomAD v3 gnomAD v4
1g.40097135A>CCA339850691PPT1c.104T>G (p.Leu35Trp)
c.78T>G
c.82T>G
n.116T>G
1g.40097135A>GCA339850692PPT1c.104T>C (p.Leu35Ser)
c.78T>C
c.82T>C
n.116T>C
 dbSNP gnomAD v4
1g.40097135A>TCA339850693PPT1c.104T>A (p.Leu35Ter)
c.78T>A
c.82T>A
n.116T>A
1g.40097136A>CCA339850694PPT1c.103T>G (p.Leu35Val)
c.77T>G
c.81T>G
n.115T>G
1g.40097136A>GCA417323195PPT1c.103T>C (p.Leu35=)
c.77T>C
c.81T>C
n.115T>C
1g.40097136A>TCA339850695PPT1c.103T>A (p.Leu35Met)
c.77T>A
c.81T>A
n.115T>A
1g.40097136_40097137delinsACCA1164248385PPT1c.102_103delinsGT (p.Pro34=)
c.76_77delinsGT
c.80_81delinsGT
n.114_115delinsGT
1g.40097137delCA916082017PPT1c.102del (p.Leu35TrpfsTer2)
c.76del
c.80del
n.114del
 ClinVar dbSNP
1g.40097137C>ACA789835PPT1c.102G>T (p.Pro34=)
c.76G>T
c.80G>T
n.114G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097137C=CA1146813535PPT1c.102G= (p.Pro34=)
c.76G=
c.80G=
n.114G=
1g.40097137C>GCA417323197PPT1c.102G>C (p.Pro34=)
c.76G>C
c.80G>C
n.114G>C
 ClinVar gnomAD v4
1g.40097137C>TCA789836PPT1c.102G>A (p.Pro34=)
c.76G>A
c.80G>A
n.114G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097138G>ACA339850696PPT1c.101C>T (p.Pro34Leu)
c.75C>T
c.79C>T
n.113C>T
1g.40097138G>CCA339850697PPT1c.101C>G (p.Pro34Arg)
c.75C>G
c.79C>G
n.113C>G
1g.40097138G>TCA339850698PPT1c.101C>A (p.Pro34Gln)
c.75C>A
c.79C>A
n.113C>A
1g.40097139G>ACA339850700PPT1c.100C>T (p.Pro34Ser)
c.74C>T
c.78C>T
n.112C>T
1g.40097139G>CCA339850701PPT1c.100C>G (p.Pro34Ala)
c.74C>G
c.78C>G
n.112C>G
 dbSNP
1g.40097139G>TCA339850699PPT1c.100C>A (p.Pro34Thr)
c.74C>A
c.78C>A
n.112C>A
1g.40097140C>ACA417323198PPT1c.99G>T (p.Leu33=)
c.73G>T
c.77G>T
n.111G>T
1g.40097140C=CA1164248388PPT1c.99G= (p.Leu33=)
c.73G=
c.77G=
n.111G=
1g.40097140C>GCA417323199PPT1c.99G>C (p.Leu33=)
c.73G>C
c.77G>C
n.111G>C
1g.40097140C>TCA417323200PPT1c.99G>A (p.Leu33=)
c.73G>A
c.77G>A
n.111G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097141A>CCA339850702PPT1c.98T>G (p.Leu33Arg)
c.72T>G
c.76T>G
n.110T>G
1g.40097141A>GCA339850703PPT1c.98T>C (p.Leu33Pro)
c.72T>C
c.76T>C
n.110T>C
1g.40097141A>TCA339850704PPT1c.98T>A (p.Leu33Gln)
c.72T>A
c.76T>A
n.110T>A
 ClinVar dbSNP gnomAD v4
1g.40097142G>ACA417323202PPT1c.97C>T (p.Leu33=)
c.71C>T
c.75C>T
n.109C>T
 ClinVar
1g.40097142G>CCA339850705PPT1c.97C>G (p.Leu33Val)
c.71C>G
c.75C>G
n.109C>G
1g.40097142G>TCA339850706PPT1c.97C>A (p.Leu33Met)
c.71C>A
c.75C>A
n.109C>A
1g.40097143C>ACA417323205PPT1c.96G>T (p.Pro32=)
c.70G>T
c.74G>T
n.108G>T
1g.40097143C>GCA417323206PPT1c.96G>C (p.Pro32=)
c.70G>C
c.74G>C
n.108G>C
1g.40097143C>TCA417323207PPT1c.96G>A (p.Pro32=)
c.70G>A
c.74G>A
n.108G>A
1g.40097144G>ACA339850709PPT1c.95C>T (p.Pro32Leu)
c.69C>T
c.73C>T
n.107C>T
 gnomAD v4
1g.40097144G>CCA339850708PPT1c.95C>G (p.Pro32Arg)
c.69C>G
c.73C>G
n.107C>G
1g.40097144G>TCA339850707PPT1c.95C>A (p.Pro32Gln)
c.69C>A
c.73C>A
n.107C>A
1g.40097145G>ACA339850710PPT1c.94C>T (p.Pro32Ser)
c.68C>T
c.72C>T
n.106C>T
1g.40097145G>CCA339850711PPT1c.94C>G (p.Pro32Ala)
c.68C>G
c.72C>G
n.106C>G
1g.40097145G>TCA339850712PPT1c.94C>A (p.Pro32Thr)
c.68C>A
c.72C>A
n.106C>A
1g.40097146C>ACA417323208PPT1c.93G>T (p.Ala31=)
c.67G>T
c.71G>T
n.105G>T
1g.40097146C>GCA417323209PPT1c.93G>C (p.Ala31=)
c.67G>C
c.71G>C
n.105G>C
1g.40097146C>TCA417323210PPT1c.93G>A (p.Ala31=)
c.67G>A
c.71G>A
n.105G>A
1g.40097147G>ACA339850713PPT1c.92C>T (p.Ala31Val)
c.66C>T
c.70C>T
n.104C>T
 gnomAD v4
1g.40097147G>CCA339850714PPT1c.92C>G (p.Ala31Gly)
c.66C>G
c.70C>G
n.104C>G
 gnomAD v4
1g.40097147G>TCA339850715PPT1c.92C>A (p.Ala31Glu)
c.66C>A
c.70C>A
n.104C>A
1g.40097148C>ACA339850716PPT1c.91G>T (p.Ala31Ser)
c.65G>T
c.69G>T
n.103G>T
1g.40097148C>GCA339850718PPT1c.91G>C (p.Ala31Pro)
c.65G>C
c.69G>C
n.103G>C
1g.40097148C>TCA339850717PPT1c.91G>A (p.Ala31Thr)
c.65G>A
c.69G>A
n.103G>A
 gnomAD v4
1g.40097149C>ACA417323213PPT1c.90G>T (p.Pro30=)
c.64G>T
c.68G>T
n.102G>T
1g.40097149C=CA1164248390PPT1c.90G= (p.Pro30=)
c.64G=
c.68G=
n.102G=
1g.40097149C>GCA417323214PPT1c.90G>C (p.Pro30=)
c.64G>C
c.68G>C
n.102G>C
1g.40097149C>TCA789837PPT1c.90G>A (p.Pro30=)
c.64G>A
c.68G>A
n.102G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097150G>ACA789838PPT1c.89C>T (p.Pro30Leu)
c.63C>T
c.67C>T
n.101C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.40097150G>CCA339850719PPT1c.89C>G (p.Pro30Arg)
c.63C>G
c.67C>G
n.101C>G
 ClinVar gnomAD v4
1g.40097150G=CA1164248393PPT1c.89C= (p.Pro30=)
c.63C=
c.67C=
n.101C=
1g.40097150G>TCA339850720PPT1c.89C>A (p.Pro30Gln)
c.63C>A
c.67C>A
n.101C>A
1g.40097151G>ACA339850721PPT1c.88C>T (p.Pro30Ser)
c.62C>T
c.66C>T
n.100C>T
 gnomAD v4
1g.40097151G>CCA339850722PPT1c.88C>G (p.Pro30Ala)
c.62C>G
c.66C>G
n.100C>G
1g.40097151G>TCA339850723PPT1c.88C>A (p.Pro30Thr)
c.62C>A
c.66C>A
n.100C>A
1g.40097152C>ACA417323215PPT1c.87G>T (p.Pro29=)
c.61G>T
c.65G>T
n.99G>T
1g.40097152C=CA1164248394PPT1c.87G= (p.Pro29=)
c.61G=
c.65G=
n.99G=
1g.40097152C>GCA417323217PPT1c.87G>C (p.Pro29=)
c.61G>C
c.65G>C
n.99G>C
 gnomAD v4
1g.40097152C>TCA417323216PPT1c.87G>A (p.Pro29=)
c.61G>A
c.65G>A
n.99G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097153G>ACA339850724PPT1c.86C>T (p.Pro29Leu)
c.60C>T
c.64C>T
n.98C>T
 gnomAD v4
1g.40097153G>CCA339850725PPT1c.86C>G (p.Pro29Arg)
c.60C>G
c.64C>G
n.98C>G
 dbSNP gnomAD v3 gnomAD v4
1g.40097153G=CA1164248397PPT1c.86C= (p.Pro29=)
c.60C=
c.64C=
n.98C=
1g.40097153G>TCA316933PPT1c.86C>A (p.Pro29Gln)
c.60C>A
c.64C>A
n.98C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097154G>ACA339850726PPT1c.85C>T (p.Pro29Ser)
c.59C>T
c.63C>T
n.97C>T
1g.40097154G>CCA339850727PPT1c.85C>G (p.Pro29Ala)
c.59C>G
c.63C>G
n.97C>G
1g.40097154G>TCA339850728PPT1c.85C>A (p.Pro29Thr)
c.59C>A
c.63C>A
n.97C>A
1g.40097155G>ACA417323218PPT1c.84C>T (p.Asp28=)
c.58C>T
c.62C>T
n.96C>T
1g.40097155G>CCA339850730PPT1c.84C>G (p.Asp28Glu)
c.58C>G
c.62C>G
n.96C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097155G=CA1164248402PPT1c.84C= (p.Asp28=)
c.58C=
c.62C=
n.96C=
1g.40097155G>TCA339850729PPT1c.84C>A (p.Asp28Glu)
c.58C>A
c.62C>A
n.96C>A
 gnomAD v4
1g.40097156T>ACA339850731PPT1c.83A>T (p.Asp28Val)
c.57A>T
c.61A>T
n.95A>T
1g.40097156T>CCA789839PPT1c.83A>G (p.Asp28Gly)
c.57A>G
c.61A>G
n.95A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097156T>GCA21021014PPT1c.83A>C (p.Asp28Ala)
c.57A>C
c.61A>C
n.95A>C
 dbSNP
1g.40097156T=CA1149152117PPT1c.83A= (p.Asp28=)
c.57A=
c.61A=
n.95A=
1g.40097157C>ACA339850732PPT1c.82G>T (p.Asp28Tyr)
c.56G>T
c.60G>T
n.94G>T
1g.40097157C>GCA339850734PPT1c.82G>C (p.Asp28His)
c.56G>C
c.60G>C
n.94G>C
1g.40097157C>TCA339850733PPT1c.82G>A (p.Asp28Asn)
c.56G>A
c.60G>A
n.94G>A
1g.40097158C>ACA417323220PPT1c.81G>T (p.Leu27=)
c.55G>T
c.59G>T
n.93G>T
1g.40097158C>GCA417323221PPT1c.81G>C (p.Leu27=)
c.55G>C
c.59G>C
n.93G>C
1g.40097158C>TCA417323222PPT1c.81G>A (p.Leu27=)
c.55G>A
c.59G>A
n.93G>A
 ClinVar
1g.40097159A>CCA339850735PPT1c.80T>G (p.Leu27Arg)
c.54T>G
c.58T>G
n.92T>G
1g.40097159A>GCA339850737PPT1c.80T>C (p.Leu27Pro)
c.54T>C
c.58T>C
n.92T>C
1g.40097159A>TCA339850736PPT1c.80T>A (p.Leu27Gln)
c.54T>A
c.58T>A
n.92T>A
1g.40097160G>ACA417323224PPT1c.79C>T (p.Leu27=)
c.53C>T
c.57C>T
n.91C>T
1g.40097160G>CCA339850738PPT1c.79C>G (p.Leu27Val)
c.53C>G
c.57C>G
n.91C>G
1g.40097160G>TCA339850739PPT1c.79C>A (p.Leu27Met)
c.53C>A
c.57C>A
n.91C>A
1g.40097161A>CCA339850740PPT1c.78T>G (p.His26Gln)
c.52T>G
c.56T>G
n.90T>G
1g.40097161A>GCA417323225PPT1c.78T>C (p.His26=)
c.52T>C
c.56T>C
n.90T>C
1g.40097161A>TCA339850741PPT1c.78T>A (p.His26Gln)
c.52T>A
c.56T>A
n.90T>A
1g.40097162T>ACA339850742PPT1c.77A>T (p.His26Leu)
c.51A>T
c.55A>T
n.89A>T
1g.40097162T>CCA339850744PPT1c.77A>G (p.His26Arg)
c.51A>G
c.55A>G
n.89A>G
1g.40097162T>GCA339850743PPT1c.77A>C (p.His26Pro)
c.51A>C
c.55A>C
n.89A>C
1g.40097163G>ACA789840PPT1c.76C>T (p.His26Tyr)
c.50C>T
c.54C>T
n.88C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097163G>CCA339850745PPT1c.76C>G (p.His26Asp)
c.50C>G
c.54C>G
n.88C>G
1g.40097163G=CA1164248405PPT1c.76C= (p.His26=)
c.50C=
c.54C=
n.88C=
1g.40097163G>TCA339850746PPT1c.76C>A (p.His26Asn)
c.50C>A
c.54C>A
n.88C>A
1g.40097164C>ACA339850747PPT1c.75G>T (p.Gln25His)
c.49G>T
c.53G>T
n.87G>T
1g.40097164C=CA1164248407PPT1c.75G= (p.Gln25=)
c.49G=
c.53G=
n.87G=
1g.40097164C>GCA339850748PPT1c.75G>C (p.Gln25His)
c.49G>C
c.53G>C
n.87G>C
 gnomAD v4
1g.40097164C>TCA789841PPT1c.75G>A (p.Gln25=)
c.49G>A
c.53G>A
n.87G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097165T>ACA339850749PPT1c.74A>T (p.Gln25Leu)
c.48A>T
c.52A>T
n.86A>T
1g.40097165T>CCA339850750PPT1c.74A>G (p.Gln25Arg)
c.48A>G
c.52A>G
n.86A>G
 gnomAD v4
1g.40097165T>GCA339850751PPT1c.74A>C (p.Gln25Pro)
c.48A>C
c.52A>C
n.86A>C
1g.40097166G>ACA339850752PPT1c.73C>T (p.Gln25Ter)
c.47C>T
c.51C>T
n.85C>T
1g.40097166G>CCA339850753PPT1c.73C>G (p.Gln25Glu)
c.47C>G
c.51C>G
n.85C>G
1g.40097166G>TCA339850754PPT1c.73C>A (p.Gln25Lys)
c.47C>A
c.51C>A
n.85C>A
1g.40097166_40097167delinsAACA2580062750PPT1c.72_73delinsTT (p.Leu25Ter)
c.46_47delinsTT
c.50_51delinsTT
n.84_85delinsTT
 ClinVar
1g.40097167C>ACA417323227PPT1c.72G>T (p.Leu24=)
c.46G>T
c.50G>T
n.84G>T
1g.40097167C>GCA417323228PPT1c.72G>C (p.Leu24=)
c.46G>C
c.50G>C
n.84G>C
1g.40097167C>TCA417323229PPT1c.72G>A (p.Leu24=)
c.46G>A
c.50G>A
n.84G>A
 ClinVar
1g.40097168A=CA1148403116PPT1c.71T= (p.Leu24=)
c.45T=
c.49T=
n.83T=
1g.40097168A>CCA339850756PPT1c.71T>G (p.Leu24Arg)
c.45T>G
c.49T>G
n.83T>G
 dbSNP gnomAD v2 gnomAD v4
1g.40097168A>GCA789842PPT1c.71T>C (p.Leu24Pro)
c.45T>C
c.49T>C
n.83T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097168A>TCA339850755PPT1c.71T>A (p.Leu24Gln)
c.45T>A
c.49T>A
n.83T>A
1g.40097169G>ACA417323231PPT1c.70C>T (p.Leu24=)
c.44C>T
c.48C>T
n.82C>T
1g.40097169G>CCA339850757PPT1c.70C>G (p.Leu24Val)
c.44C>G
c.48C>G
n.82C>G
1g.40097169G>TCA339850758PPT1c.70C>A (p.Leu24Met)
c.44C>A
c.48C>A
n.82C>A
1g.40097170C>ACA417323232PPT1c.69G>T (p.Ala23=)
c.43G>T
c.47G>T
n.81G>T
1g.40097170C=CA1139894640PPT1c.69G= (p.Ala23=)
c.43G=
c.47G=
n.81G=
1g.40097170C>GCA789843PPT1c.69G>C (p.Ala23=)
c.43G>C
c.47G>C
n.81G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097170C>TCA21021067PPT1c.69G>A (p.Ala23=)
c.43G>A
c.47G>A
n.81G>A
 dbSNP
1g.40097171G>ACA339850759PPT1c.68C>T (p.Ala23Val)
c.42C>T
c.46C>T
n.80C>T
1g.40097171G>CCA789844PPT1c.68C>G (p.Ala23Gly)
c.42C>G
c.46C>G
n.80C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097171G=CA1164248414PPT1c.68C= (p.Ala23=)
c.42C=
c.46C=
n.80C=
1g.40097171G>TCA339850760PPT1c.68C>A (p.Ala23Glu)
c.42C>A
c.46C>A
n.80C>A
1g.40097171_40097172insGATGCA2645093739PPT1c.68_69insATCC (p.Leu24SerfsTer21)
c.68_69insATCC (p.Leu24SerfsTer?)
c.42_43insATCC
c.46_47insATCC
n.80_81insATCC
 gnomAD v4
1g.40097172C>ACA789846PPT1c.67G>T (p.Ala23Ser)
c.41G>T
c.45G>T
n.79G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097172C=CA1149142257PPT1c.67G= (p.Ala23=)
c.41G=
c.45G=
n.79G=
1g.40097172C>GCA789845PPT1c.67G>C (p.Ala23Pro)
c.41G>C
c.45G>C
n.79G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097172C>TCA21021092PPT1c.67G>A (p.Ala23Thr)
c.41G>A
c.45G>A
n.79G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097172_40097173insTGCA2645093749PPT1c.66_67insCA (p.Ala23GlnfsTer15)
c.40_41insCA
c.44_45insCA
n.78_79insCA
 gnomAD v4
1g.40097173C>ACA417323238PPT1c.66G>T (p.Arg22=)
c.40G>T
c.44G>T
n.78G>T
1g.40097173C>GCA417323236PPT1c.66G>C (p.Arg22=)
c.40G>C
c.44G>C
n.78G>C
1g.40097173C>TCA417323235PPT1c.66G>A (p.Arg22=)
c.40G>A
c.44G>A
n.78G>A
1g.40097174C>ACA339850763PPT1c.65G>T (p.Arg22Leu)
c.39G>T
c.43G>T
n.77G>T
1g.40097174C=CA1164248422PPT1c.65G= (p.Arg22=)
c.39G=
c.43G=
n.77G=
1g.40097174C>GCA339850762PPT1c.65G>C (p.Arg22Pro)
c.39G>C
c.43G>C
n.77G>C
 ClinVar dbSNP gnomAD v4 COSMIC
1g.40097174C>TCA339850761PPT1c.65G>A (p.Arg22Gln)
c.39G>A
c.43G>A
n.77G>A
1g.40097174_40097178delinsCGAGACA1164248423PPT1c.61_65delinsTCTCG (p.Ser21=)
c.35_39delinsTCTCG
c.39_43delinsTCTCG
n.73_77delinsTCTCG
1g.40097175G>ACA339850764PPT1c.64C>T (p.Arg22Trp)
c.38C>T
c.42C>T
n.76C>T
 ClinVar dbSNP gnomAD v4
1g.40097175G>CCA339850765PPT1c.64C>G (p.Arg22Gly)
c.38C>G
c.42C>G
n.76C>G
1g.40097175G=CA1164248426PPT1c.64C= (p.Arg22=)
c.38C=
c.42C=
n.76C=
1g.40097175G>TCA417323239PPT1c.64C>A (p.Arg22=)
c.38C>A
c.42C>A
n.76C>A
 gnomAD v4
1g.40097175_40097178delCA1164248425PPT1c.61_64del (p.Ser21GlyfsTer15)
c.35_38del
c.39_42del
n.73_76del
 dbSNP
1g.40097175_40097176insGCGGGTCCCA2645093759PPT1c.63_64insGGACCCGC (p.Arg22GlyfsTer18)
c.37_38insGGACCCGC
c.41_42insGGACCCGC
n.75_76insGGACCCGC
 gnomAD v4
1g.40097176A=CA1164248428PPT1c.63T= (p.Ser21=)
c.37T=
c.41T=
n.75T=
1g.40097176A>CCA417323240PPT1c.63T>G (p.Ser21=)
c.37T>G
c.41T>G
n.75T>G
1g.40097176A>GCA789847PPT1c.63T>C (p.Ser21=)
c.37T>C
c.41T>C
n.75T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097176A>TCA417323241PPT1c.63T>A (p.Ser21=)
c.37T>A
c.41T>A
n.75T>A
1g.40097177G>ACA316912PPT1c.62C>T (p.Ser21Phe)
c.36C>T
c.40C>T
n.74C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097177G>CCA339850766PPT1c.62C>G (p.Ser21Cys)
c.36C>G
c.40C>G
n.74C>G
1g.40097177G=CA1164248431PPT1c.62C= (p.Ser21=)
c.36C=
c.40C=
n.74C=
1g.40097177G>TCA339850767PPT1c.62C>A (p.Ser21Tyr)
c.36C>A
c.40C>A
n.74C>A
1g.40097178A=CA1164248435PPT1c.61T= (p.Ser21=)
c.35T=
c.39T=
n.73T=
1g.40097178A>CCA339850768PPT1c.61T>G (p.Ser21Ala)
c.35T>G
c.39T>G
n.73T>G
1g.40097178A>GCA339850769PPT1c.61T>C (p.Ser21Pro)
c.35T>C
c.39T>C
n.73T>C
 dbSNP
1g.40097178A>TCA339850770PPT1c.61T>A (p.Ser21Thr)
c.35T>A
c.39T>A
n.73T>A
1g.40097179A>CCA417323245PPT1c.60T>G (p.Ala20=)
c.34T>G
c.38T>G
n.72T>G
1g.40097179A>GCA417323246PPT1c.60T>C (p.Ala20=)
c.34T>C
c.38T>C
n.72T>C
 ClinVar
1g.40097179A>TCA417323247PPT1c.60T>A (p.Ala20=)
c.34T>A
c.38T>A
n.72T>A
1g.40097180delCA2645093764PPT1c.59del (p.Ala20ValfsTer17)
c.33del
c.37del
n.71del
 gnomAD v4
1g.40097180G>ACA339850771PPT1c.59C>T (p.Ala20Val)
c.33C>T
c.37C>T
n.71C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097180G>CCA339850772PPT1c.59C>G (p.Ala20Gly)
c.33C>G
c.37C>G
n.71C>G
1g.40097180G=CA1164248440PPT1c.59C= (p.Ala20=)
c.33C=
c.37C=
n.71C=
1g.40097180G>TCA339850773PPT1c.59C>A (p.Ala20Asp)
c.33C>A
c.37C>A
n.71C>A
1g.40097181C>ACA339850776PPT1c.58G>T (p.Ala20Ser)
c.32G>T
c.36G>T
n.70G>T
1g.40097181C=CA1164248441PPT1c.58G= (p.Ala20=)
c.32G=
c.36G=
n.70G=
1g.40097181C>GCA339850775PPT1c.58G>C (p.Ala20Pro)
c.32G>C
c.36G>C
n.70G>C
1g.40097181C>TCA339850774PPT1c.58G>A (p.Ala20Thr)
c.32G>A
c.36G>A
n.70G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097182G>ACA417323248PPT1c.57C>T (p.Cys19=)
c.31C>T
c.35C>T
n.69C>T
 ClinVar
1g.40097182G>CCA789848PPT1c.57C>G (p.Cys19Trp)
c.31C>G
c.35C>G
n.69C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097182G=CA1144478323PPT1c.57C= (p.Cys19=)
c.31C=
c.35C=
n.69C=
1g.40097182G>TCA339850777PPT1c.57C>A (p.Cys19Ter)
c.31C>A
c.35C>A
n.69C>A
1g.40097182_40097183delinsAGCA2580062751PPT1c.56_57delinsCT (p.Cys19Ser)
c.30_31delinsCT
c.34_35delinsCT
n.68_69delinsCT
 ClinVar
1g.40097183C>ACA339850778PPT1c.56G>T (p.Cys19Phe)
c.30G>T
c.34G>T
n.68G>T
1g.40097183C>GCA339850779PPT1c.56G>C (p.Cys19Ser)
c.30G>C
c.34G>C
n.68G>C
1g.40097183C>TCA339850780PPT1c.56G>A (p.Cys19Tyr)
c.30G>A
c.34G>A
n.68G>A
 gnomAD v4
1g.40097184A>CCA339850781PPT1c.55T>G (p.Cys19Gly)
c.29T>G
c.33T>G
n.67T>G
 gnomAD v4
1g.40097184A>GCA339850782PPT1c.55T>C (p.Cys19Arg)
c.29T>C
c.33T>C
n.67T>C
1g.40097184A>TCA339850783PPT1c.55T>A (p.Cys19Ser)
c.29T>A
c.33T>A
n.67T>A
 gnomAD v4
1g.40097184_40097191delinsAGGTCCATCA1164248443PPT1c.48_55delinsATGGACCT (p.Pro16=)
c.22_29delinsATGGACCT
c.26_33delinsATGGACCT
n.60_67delinsATGGACCT
1g.40097185G>ACA789849PPT1c.54C>T (p.Thr18=)
c.28C>T
c.32C>T
n.66C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097185G>CCA417323250PPT1c.54C>G (p.Thr18=)
c.28C>G
c.32C>G
n.66C>G
1g.40097185G=CA1164248446PPT1c.54C= (p.Thr18=)
c.28C=
c.32C=
n.66C=
1g.40097185G>TCA417323251PPT1c.54C>A (p.Thr18=)
c.28C>A
c.32C>A
n.66C>A
1g.40097187_40097193delCA16040734PPT1c.48_54del (p.Trp17AlafsTer18)
c.22_28del
c.26_32del
n.60_66del
 ClinVar dbSNP
1g.40097186G>ACA339850784PPT1c.53C>T (p.Thr18Ile)
c.27C>T
c.31C>T
n.65C>T
1g.40097186G>CCA339850785PPT1c.53C>G (p.Thr18Ser)
c.27C>G
c.31C>G
n.65C>G
1g.40097186G>TCA339850786PPT1c.53C>A (p.Thr18Asn)
c.27C>A
c.31C>A
n.65C>A
1g.40097187T>ACA339850789PPT1c.52A>T (p.Thr18Ser)
c.26A>T
c.30A>T
n.64A>T
1g.40097187T>CCA339850788PPT1c.52A>G (p.Thr18Ala)
c.26A>G
c.30A>G
n.64A>G
1g.40097187T>GCA339850787PPT1c.52A>C (p.Thr18Pro)
c.26A>C
c.30A>C
n.64A>C
1g.40097188C>ACA339850791PPT1c.51G>T (p.Trp17Cys)
c.25G>T
c.29G>T
n.63G>T
1g.40097188C>GCA339850790PPT1c.51G>C (p.Trp17Cys)
c.25G>C
c.29G>C
n.63G>C
1g.40097188C>TCA339850792PPT1c.51G>A (p.Trp17Ter)
c.25G>A
c.29G>A
n.63G>A
 ClinVar dbSNP
1g.40097189C>ACA339850793PPT1c.50G>T (p.Trp17Leu)
c.24G>T
c.28G>T
n.62G>T
1g.40097189C>GCA339850794PPT1c.50G>C (p.Trp17Ser)
c.24G>C
c.28G>C
n.62G>C
1g.40097189C>TCA339850795PPT1c.50G>A (p.Trp17Ter)
c.24G>A
c.28G>A
n.62G>A
 ClinVar
1g.40097190A=CA1164248449PPT1c.49T= (p.Trp17=)
c.23T=
c.27T=
n.61T=
1g.40097190A>CCA339850796PPT1c.49T>G (p.Trp17Gly)
c.23T>G
c.27T>G
n.61T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097190A>GCA789850PPT1c.49T>C (p.Trp17Arg)
c.23T>C
c.27T>C
n.61T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097190A>TCA339850797PPT1c.49T>A (p.Trp17Arg)
c.23T>A
c.27T>A
n.61T>A
 gnomAD v4
1g.40097191T>ACA417323255PPT1c.48A>T (p.Pro16=)
c.22A>T
c.26A>T
n.60A>T
 ClinVar dbSNP
1g.40097191T>CCA21021114PPT1c.48A>G (p.Pro16=)
c.22A>G
c.26A>G
n.60A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097191T>GCA417323256PPT1c.48A>C (p.Pro16=)
c.22A>C
c.26A>C
n.60A>C
1g.40097191T=CA1164248450PPT1c.48A= (p.Pro16=)
c.22A=
c.26A=
n.60A=
1g.40097192G>ACA339850798PPT1c.47C>T (p.Pro16Leu)
c.21C>T
c.25C>T
n.59C>T
1g.40097192G>CCA339850799PPT1c.47C>G (p.Pro16Arg)
c.21C>G
c.25C>G
n.59C>G
1g.40097192G>TCA339850800PPT1c.47C>A (p.Pro16Gln)
c.21C>A
c.25C>A
n.59C>A
1g.40097193G>ACA339850801PPT1c.46C>T (p.Pro16Ser)
c.20C>T
c.24C>T
n.58C>T
1g.40097193G>CCA339850802PPT1c.46C>G (p.Pro16Ala)
c.20C>G
c.24C>G
n.58C>G
1g.40097193G=CA1164248452PPT1c.46C= (p.Pro16=)
c.20C=
c.24C=
n.58C=
1g.40097193G>TCA21021120PPT1c.46C>A (p.Pro16Thr)
c.20C>A
c.24C>A
n.58C>A
 dbSNP
1g.40097194C>ACA417323257PPT1c.45G>T (p.Leu15=)
c.19G>T
c.23G>T
n.57G>T
 ClinVar
1g.40097194C>GCA417323258PPT1c.45G>C (p.Leu15=)
c.19G>C
c.23G>C
n.57G>C
1g.40097194C>TCA417323259PPT1c.45G>A (p.Leu15=)
c.19G>A
c.23G>A
n.57G>A
 dbSNP
1g.40097195A>CCA339850805PPT1c.44T>G (p.Leu15Arg)
c.18T>G
c.22T>G
n.56T>G
1g.40097195A>GCA339850803PPT1c.44T>C (p.Leu15Pro)
c.18T>C
c.22T>C
n.56T>C
1g.40097195A>TCA339850804PPT1c.44T>A (p.Leu15Gln)
c.18T>A
c.22T>A
n.56T>A
 gnomAD v4
1g.40097196G>ACA16603668PPT1c.43C>T (p.Leu15=)
c.17C>T
c.21C>T
n.55C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.40097196G>CCA339850806PPT1c.43C>G (p.Leu15Val)
c.17C>G
c.21C>G
n.55C>G
1g.40097196G=CA1164248455PPT1c.43C= (p.Leu15=)
c.17C=
c.21C=
n.55C=
1g.40097196G>TCA339850807PPT1c.43C>A (p.Leu15Met)
c.17C>A
c.21C>A
n.55C>A
1g.40097197dupCA913074747PPT1c.43dup (p.Leu15ProfsTer29)
c.43dup (p.Leu15ProfsTer?)
c.17dup
c.21dup
n.55dup
1g.40097197G>ACA789852PPT1c.42C>T (p.Leu14=)
c.16C>T
c.20C>T
n.54C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097197G>CCA417323260PPT1c.42C>G (p.Leu14=)
c.16C>G
c.20C>G
n.54C>G
1g.40097197G=CA1143825365PPT1c.42C= (p.Leu14=)
c.16C=
c.20C=
n.54C=
1g.40097197G>TCA417323261PPT1c.42C>A (p.Leu14=)
c.16C>A
c.20C>A
n.54C>A
1g.40097197_40097209dupCA789851PPT1c.30_42dup (p.Leu15GlyfsTer33)
c.30_42dup (p.Leu15GlyfsTer?)
c.4_16dup
c.8_20dup
n.42_54dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097197_40097210delinsGAGAGCCACAGCCACA1164248458PPT1c.29_42delinsTGGCTGTGGCTCTC (p.Leu10=)
c.3_16delinsTGGCTGTGGCTCTC
c.7_20delinsTGGCTGTGGCTCTC
n.41_54delinsTGGCTGTGGCTCTC
1g.40097198A=CA1164248463PPT1c.41T= (p.Leu14=)
c.15T=
c.19T=
n.53T=
1g.40097198A>CCA339850808PPT1c.41T>G (p.Leu14Arg)
c.15T>G
c.19T>G
n.53T>G
1g.40097198A>GCA339850809PPT1c.41T>C (p.Leu14Pro)
c.15T>C
c.19T>C
n.53T>C
 gnomAD v4
1g.40097198A>TCA339850810PPT1c.41T>A (p.Leu14His)
c.15T>A
c.19T>A
n.53T>A
 dbSNP gnomAD v2 gnomAD v4
1g.40097208_40097220dupCA789853PPT1c.29_41dup (p.Leu15GlyfsTer33)
c.29_41dup (p.Leu15GlyfsTer?)
n.41_53dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097208_40097220delCA522422882PPT1c.29_41del (p.Leu10SerfsTer23)
n.41_53del
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097199G>ACA789854PPT1c.40C>T (p.Leu14Phe)
c.14C>T
c.18C>T
n.52C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097199G>CCA339850811PPT1c.40C>G (p.Leu14Val)
c.14C>G
c.18C>G
n.52C>G
 ClinVar dbSNP
1g.40097199G=CA1146006268PPT1c.40C= (p.Leu14=)
c.14C=
c.18C=
n.52C=
1g.40097199G>TCA339850812PPT1c.40C>A (p.Leu14Ile)
c.14C>A
c.18C>A
n.52C>A
1g.40097200A>CCA417323262PPT1c.39T>G (p.Ala13=)
c.13T>G
c.17T>G
n.51T>G
1g.40097200A>GCA417323263PPT1c.39T>C (p.Ala13=)
c.13T>C
c.17T>C
n.51T>C
1g.40097200A>TCA417323264PPT1c.39T>A (p.Ala13=)
c.13T>A
c.17T>A
n.51T>A
1g.40097201G>ACA339850814PPT1c.38C>T (p.Ala13Val)
c.12C>T
c.16C>T
n.50C>T
1g.40097201G>CCA10610995PPT1c.38C>G (p.Ala13Gly)
c.12C>G
c.16C>G
n.50C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40097201G=CA1164248470PPT1c.38C= (p.Ala13=)
c.12C=
c.16C=
n.50C=
1g.40097201G>TCA339850813PPT1c.38C>A (p.Ala13Asp)
c.12C>A
c.16C>A
n.50C>A
1g.40097202C>ACA339850815PPT1c.37G>T (p.Ala13Ser)
c.11G>T
c.15G>T
n.49G>T
1g.40097202C>GCA339850816PPT1c.37G>C (p.Ala13Pro)
c.11G>C
c.15G>C
n.49G>C
1g.40097202C>TCA339850817PPT1c.37G>A (p.Ala13Thr)
c.11G>A
c.15G>A
n.49G>A
1g.40097203C>ACA417323265PPT1c.36G>T (p.Val12=)
c.10G>T
c.14G>T
n.48G>T
 ClinVar dbSNP
1g.40097203C=CA1164248474PPT1c.36G= (p.Val12=)
c.10G=
c.14G=
n.48G=
1g.40097203C>GCA417323266PPT1c.36G>C (p.Val12=)
c.10G>C
c.14G>C
n.48G>C
1g.40097203C>TCA21021139PPT1c.36G>A (p.Val12=)
c.10G>A
c.14G>A
n.48G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097204A=CA1164248478PPT1c.35T= (p.Val12=)
c.9T=
c.13T=
n.47T=
1g.40097204A>CCA339850818PPT1c.35T>G (p.Val12Gly)
c.9T>G
c.13T>G
n.47T>G
1g.40097204A>GCA339850819PPT1c.35T>C (p.Val12Ala)
c.9T>C
c.13T>C
n.47T>C
 ClinVar
1g.40097204A>TCA339850820PPT1c.35T>A (p.Val12Glu)
c.9T>A
c.13T>A
n.47T>A
 dbSNP gnomAD v3 gnomAD v4
1g.40097205C>ACA339850821PPT1c.34G>T (p.Val12Leu)
c.8G>T
c.12G>T
n.46G>T
1g.40097205C>GCA339850822PPT1c.34G>C (p.Val12Leu)
c.8G>C
c.12G>C
n.46G>C
1g.40097205C>TCA339850823PPT1c.34G>A (p.Val12Met)
c.8G>A
c.12G>A
n.46G>A
1g.40097206A=CA1164248481PPT1c.33T= (p.Ala11=)
c.7T=
c.11T=
n.45T=
1g.40097206A>CCA417323267PPT1c.33T>G (p.Ala11=)
c.7T>G
c.11T>G
n.45T>G
1g.40097206A>GCA417323269PPT1c.33T>C (p.Ala11=)
c.7T>C
c.11T>C
n.45T>C
1g.40097206A>TCA417323268PPT1c.33T>A (p.Ala11=)
c.7T>A
c.11T>A
n.45T>A
 dbSNP gnomAD v4
1g.40097207G>ACA339850824PPT1c.32C>T (p.Ala11Val)
c.6C>T
c.10C>T
n.44C>T
 gnomAD v4
1g.40097207G>CCA339850825PPT1c.32C>G (p.Ala11Gly)
c.6C>G
c.10C>G
n.44C>G
1g.40097207G>TCA339850826PPT1c.32C>A (p.Ala11Asp)
c.6C>A
c.10C>A
n.44C>A
 ClinVar
1g.40097208C>ACA339850828PPT1c.31G>T (p.Ala11Ser)
c.5G>T
c.9G>T
n.43G>T
 dbSNP gnomAD v3 gnomAD v4
1g.40097208C=CA1164248485PPT1c.31G= (p.Ala11=)
c.5G=
c.9G=
n.43G=
1g.40097208C>GCA789855PPT1c.31G>C (p.Ala11Pro)
c.5G>C
c.9G>C
n.43G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40097208C>TCA339850827PPT1c.31G>A (p.Ala11Thr)
c.5G>A
c.9G>A
n.43G>A
1g.40097208_40097209dupCA2586966437PPT1c.30_31dup (p.Ala11GlyfsTer27)
c.4_5dup
c.8_9dup
n.42_43dup
1g.40097209C>ACA339850829PPT1c.30G>T (p.Leu10Phe)
c.4G>T
c.8G>T
n.42G>T
 gnomAD v4
1g.40097209C>GCA339850830PPT1c.30G>C (p.Leu10Phe)
c.4G>C
c.8G>C
n.42G>C
1g.40097209C>TCA417323271PPT1c.30G>A (p.Leu10=)
c.4G>A
c.8G>A
n.42G>A
1g.40097211_40097223delCA2586966438PPT1c.18_30del (p.Cys6TrpfsTer27)
n.30_42del
1g.40097210A=CA1141580728PPT1c.29T= (p.Leu10=)
c.3T=
c.7T=
n.41T=
1g.40097210A>CCA339850831PPT1c.29T>G (p.Leu10Trp)
c.3T>G
c.7T>G
n.41T>G
1g.40097210A>GCA339850832PPT1c.29T>C (p.Leu10Ser)
c.3T>C
c.7T>C
n.41T>C
1g.40097210A>TCA254584PPT1c.29T>A (p.Leu10Ter)
c.3T>A
c.7T>A
n.41T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097211A>CCA339850834PPT1c.28T>G (p.Leu10Val)
c.2T>G
c.6T>G
n.40T>G
1g.40097211A>GCA417323272PPT1c.28T>C (p.Leu10=)
c.2T>C
c.6T>C
n.40T>C
1g.40097211A>TCA339850833PPT1c.28T>A (p.Leu10Met)
c.2T>A
c.6T>A
n.40T>A
1g.40097212G>ACA417323273PPT1c.27C>T (p.Leu9=)
c.1C>T
c.5C>T
n.39C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40097212G>CCA789856PPT1c.27C>G (p.Leu9=)
c.1C>G
c.5C>G
n.39C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40097212G=CA1164248501PPT1c.27C= (p.Leu9=)
c.1C=
c.5C=
n.39C=
1g.40097212G>TCA417323275PPT1c.27C>A (p.Leu9=)
c.1C>A
c.5C>A
n.39C>A
1g.40097213A>CCA339850835PPT1c.26T>G (p.Leu9Arg)
c.4T>G
n.38T>G
 gnomAD v4
1g.40097213A>GCA339850836PPT1c.26T>C (p.Leu9Pro)
c.4T>C
n.38T>C
 ClinVar COSMIC
1g.40097213A>TCA339850837PPT1c.26T>A (p.Leu9His)
c.4T>A
n.38T>A
 gnomAD v4
1g.40097214G>ACA339850838PPT1c.25C>T (p.Leu9Phe)
c.3C>T
n.37C>T
 ClinVar gnomAD v4
1g.40097214G>CCA339850839PPT1c.25C>G (p.Leu9Val)
c.3C>G
n.37C>G
1g.40097214G>TCA339850840PPT1c.25C>A (p.Leu9Ile)
c.3C>A
n.37C>A
 COSMIC
1g.40097214_40097218dupCA2580062753PPT1c.21_25dup (p.Leu9ArgfsTer30)
n.33_37dup
 ClinVar
1g.40097215C>ACA339850842PPT1c.24G>T (p.Trp8Cys)
c.2G>T
n.36G>T
1g.40097215C>GCA339850843PPT1c.24G>C (p.Trp8Cys)
c.2G>C
n.36G>C
1g.40097215C>TCA339850841PPT1c.24G>A (p.Trp8Ter)
c.2G>A
n.36G>A
1g.40097216C>ACA339850844PPT1c.23G>T (p.Trp8Leu)
c.1G>T
n.35G>T
1g.40097216C>GCA339850846PPT1c.23G>C (p.Trp8Ser)
c.1G>C
n.35G>C
1g.40097216C>TCA339850845PPT1c.23G>A (p.Trp8Ter)
c.1G>A
n.35G>A
 gnomAD v4

Number of alleles fetched