Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.40092583_40097170del | CA915941212 | PPT1 | c.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 |
1 | g.40097121_40097126del | CA2573132333 | PPT1 | c.115_120del (p.His39_Gly40del) c.89_94del c.93_98del n.127_132del | ClinVar dbSNP |
1 | g.40097123T>A | CA339850667 | PPT1 | c.116A>T (p.His39Leu) c.90A>T c.94A>T n.128A>T | |
1 | g.40097123T>C | CA339850668 | PPT1 | c.116A>G (p.His39Arg) c.90A>G c.94A>G n.128A>G | |
1 | g.40097123T>G | CA789833 | PPT1 | c.116A>C (p.His39Pro) c.90A>C c.94A>C n.128A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097123T= | CA1164248367 | PPT1 | c.116A= (p.His39=) c.90A= c.94A= n.128A= | |
1 | g.40097124G>A | CA339850669 | PPT1 | c.115C>T (p.His39Tyr) c.89C>T c.93C>T n.127C>T | |
1 | g.40097124G>C | CA339850670 | PPT1 | c.115C>G (p.His39Asp) c.89C>G c.93C>G n.127C>G | |
1 | g.40097124G>T | CA339850671 | PPT1 | c.115C>A (p.His39Asn) c.89C>A c.93C>A n.127C>A | |
1 | g.40097124_40097125delinsGC | CA1164248368 | PPT1 | c.114_115delinsGC (p.Trp38=) c.88_89delinsGC c.92_93delinsGC n.126_127delinsGC | |
1 | g.40097125C>A | CA263461 | PPT1 | c.114G>T (p.Trp38Cys) c.88G>T c.92G>T n.126G>T | ClinVar dbSNP |
1 | g.40097125C= | CA1144228764 | PPT1 | c.114G= (p.Trp38=) c.88G= c.92G= n.126G= | |
1 | g.40097125C>G | CA339850672 | PPT1 | c.114G>C (p.Trp38Cys) c.88G>C c.92G>C n.126G>C | |
1 | g.40097125C>T | CA263458 | PPT1 | c.114G>A (p.Trp38Ter) c.88G>A c.92G>A n.126G>A | ClinVar dbSNP |
1 | g.40097125_40097126delinsCC | CA1144228763 | PPT1 | c.113_114delinsGG (p.Trp38=) c.87_88delinsGG c.91_92delinsGG n.125_126delinsGG | |
1 | g.40097126del | CA263467 | PPT1 | c.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 |
1 | g.40097126C>A | CA339850673 | PPT1 | c.113G>T (p.Trp38Leu) c.87G>T c.91G>T n.125G>T | |
1 | g.40097126C= | CA1164248376 | PPT1 | c.113G= (p.Trp38=) c.87G= c.91G= n.125G= | |
1 | g.40097126C>G | CA21020975 | PPT1 | c.113G>C (p.Trp38Ser) c.87G>C c.91G>C n.125G>C | ClinVar dbSNP |
1 | g.40097126C>T | CA21020979 | PPT1 | c.113G>A (p.Trp38Ter) c.87G>A c.91G>A n.125G>A | dbSNP |
1 | g.40097127del | CA2580062747 | PPT1 | c.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 |
1 | g.40097127A>C | CA339850674 | PPT1 | c.112T>G (p.Trp38Gly) c.86T>G c.90T>G n.124T>G | |
1 | g.40097127A>G | CA339850676 | PPT1 | c.112T>C (p.Trp38Arg) c.86T>C c.90T>C n.124T>C | |
1 | g.40097127A>T | CA339850675 | PPT1 | c.112T>A (p.Trp38Arg) c.86T>A c.90T>A n.124T>A | |
1 | g.40097128G>A | CA417323186 | PPT1 | c.111C>T (p.Ile37=) c.85C>T c.89C>T n.123C>T | |
1 | g.40097128G>C | CA339850677 | PPT1 | c.111C>G (p.Ile37Met) c.85C>G c.89C>G n.123C>G | |
1 | g.40097128G>T | CA417323187 | PPT1 | c.111C>A (p.Ile37=) c.85C>A c.89C>A n.123C>A | |
1 | g.40097129A>C | CA339850678 | PPT1 | c.110T>G (p.Ile37Ser) c.84T>G c.88T>G n.122T>G | |
1 | g.40097129A>G | CA339850679 | PPT1 | c.110T>C (p.Ile37Thr) c.84T>C c.88T>C n.122T>C | |
1 | g.40097129A>T | CA339850680 | PPT1 | c.110T>A (p.Ile37Asn) c.84T>A c.88T>A n.122T>A | |
1 | g.40097130T>A | CA339850681 | PPT1 | c.109A>T (p.Ile37Phe) c.83A>T c.87A>T n.121A>T | |
1 | g.40097130T>C | CA789834 | PPT1 | c.109A>G (p.Ile37Val) c.83A>G c.87A>G n.121A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097130T>G | CA339850682 | PPT1 | c.109A>C (p.Ile37Leu) c.83A>C c.87A>C n.121A>C | |
1 | g.40097130T= | CA1164248379 | PPT1 | c.109A= (p.Ile37=) c.83A= c.87A= n.121A= | |
1 | g.40097131C>A | CA417323189 | PPT1 | c.108G>T (p.Val36=) c.82G>T c.86G>T n.120G>T | ClinVar dbSNP |
1 | g.40097131C>G | CA417323190 | PPT1 | c.108G>C (p.Val36=) c.82G>C c.86G>C n.120G>C | |
1 | g.40097131C>T | CA417323191 | PPT1 | c.108G>A (p.Val36=) c.82G>A c.86G>A n.120G>A | |
1 | g.40097132A= | CA1164248381 | PPT1 | c.107T= (p.Val36=) c.81T= c.85T= n.119T= | |
1 | g.40097132A>C | CA339850683 | PPT1 | c.107T>G (p.Val36Gly) c.81T>G c.85T>G n.119T>G | dbSNP |
1 | g.40097132A>G | CA339850684 | PPT1 | c.107T>C (p.Val36Ala) c.81T>C c.85T>C n.119T>C | |
1 | g.40097132A>T | CA339850685 | PPT1 | c.107T>A (p.Val36Glu) c.81T>A c.85T>A n.119T>A | |
1 | g.40097133C>A | CA339850688 | PPT1 | c.106G>T (p.Val36Leu) c.80G>T c.84G>T n.118G>T | |
1 | g.40097133C>G | CA339850687 | PPT1 | c.106G>C (p.Val36Leu) c.80G>C c.84G>C n.118G>C | |
1 | g.40097133C>T | CA339850686 | PPT1 | c.106G>A (p.Val36Met) c.80G>A c.84G>A n.118G>A | |
1 | g.40097134C>A | CA339850689 | PPT1 | c.105G>T (p.Leu35Phe) c.79G>T c.83G>T n.117G>T | |
1 | g.40097134C= | CA1164248383 | PPT1 | c.105G= (p.Leu35=) c.79G= c.83G= n.117G= | |
1 | g.40097134C>G | CA339850690 | PPT1 | c.105G>C (p.Leu35Phe) c.79G>C c.83G>C n.117G>C | |
1 | g.40097134C>T | CA417323192 | PPT1 | c.105G>A (p.Leu35=) c.79G>A c.83G>A n.117G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097135A>C | CA339850691 | PPT1 | c.104T>G (p.Leu35Trp) c.78T>G c.82T>G n.116T>G | |
1 | g.40097135A>G | CA339850692 | PPT1 | c.104T>C (p.Leu35Ser) c.78T>C c.82T>C n.116T>C | dbSNP gnomAD v4 |
1 | g.40097135A>T | CA339850693 | PPT1 | c.104T>A (p.Leu35Ter) c.78T>A c.82T>A n.116T>A | |
1 | g.40097136A>C | CA339850694 | PPT1 | c.103T>G (p.Leu35Val) c.77T>G c.81T>G n.115T>G | |
1 | g.40097136A>G | CA417323195 | PPT1 | c.103T>C (p.Leu35=) c.77T>C c.81T>C n.115T>C | |
1 | g.40097136A>T | CA339850695 | PPT1 | c.103T>A (p.Leu35Met) c.77T>A c.81T>A n.115T>A | |
1 | g.40097136_40097137delinsAC | CA1164248385 | PPT1 | c.102_103delinsGT (p.Pro34=) c.76_77delinsGT c.80_81delinsGT n.114_115delinsGT | |
1 | g.40097137del | CA916082017 | PPT1 | c.102del (p.Leu35TrpfsTer2) c.76del c.80del n.114del | ClinVar dbSNP |
1 | g.40097137C>A | CA789835 | PPT1 | c.102G>T (p.Pro34=) c.76G>T c.80G>T n.114G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097137C= | CA1146813535 | PPT1 | c.102G= (p.Pro34=) c.76G= c.80G= n.114G= | |
1 | g.40097137C>G | CA417323197 | PPT1 | c.102G>C (p.Pro34=) c.76G>C c.80G>C n.114G>C | ClinVar gnomAD v4 |
1 | g.40097137C>T | CA789836 | PPT1 | c.102G>A (p.Pro34=) c.76G>A c.80G>A n.114G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097138G>A | CA339850696 | PPT1 | c.101C>T (p.Pro34Leu) c.75C>T c.79C>T n.113C>T | |
1 | g.40097138G>C | CA339850697 | PPT1 | c.101C>G (p.Pro34Arg) c.75C>G c.79C>G n.113C>G | |
1 | g.40097138G>T | CA339850698 | PPT1 | c.101C>A (p.Pro34Gln) c.75C>A c.79C>A n.113C>A | |
1 | g.40097139G>A | CA339850700 | PPT1 | c.100C>T (p.Pro34Ser) c.74C>T c.78C>T n.112C>T | |
1 | g.40097139G>C | CA339850701 | PPT1 | c.100C>G (p.Pro34Ala) c.74C>G c.78C>G n.112C>G | dbSNP |
1 | g.40097139G>T | CA339850699 | PPT1 | c.100C>A (p.Pro34Thr) c.74C>A c.78C>A n.112C>A | |
1 | g.40097140C>A | CA417323198 | PPT1 | c.99G>T (p.Leu33=) c.73G>T c.77G>T n.111G>T | |
1 | g.40097140C= | CA1164248388 | PPT1 | c.99G= (p.Leu33=) c.73G= c.77G= n.111G= | |
1 | g.40097140C>G | CA417323199 | PPT1 | c.99G>C (p.Leu33=) c.73G>C c.77G>C n.111G>C | |
1 | g.40097140C>T | CA417323200 | PPT1 | c.99G>A (p.Leu33=) c.73G>A c.77G>A n.111G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097141A>C | CA339850702 | PPT1 | c.98T>G (p.Leu33Arg) c.72T>G c.76T>G n.110T>G | |
1 | g.40097141A>G | CA339850703 | PPT1 | c.98T>C (p.Leu33Pro) c.72T>C c.76T>C n.110T>C | |
1 | g.40097141A>T | CA339850704 | PPT1 | c.98T>A (p.Leu33Gln) c.72T>A c.76T>A n.110T>A | ClinVar dbSNP gnomAD v4 |
1 | g.40097142G>A | CA417323202 | PPT1 | c.97C>T (p.Leu33=) c.71C>T c.75C>T n.109C>T | ClinVar |
1 | g.40097142G>C | CA339850705 | PPT1 | c.97C>G (p.Leu33Val) c.71C>G c.75C>G n.109C>G | |
1 | g.40097142G>T | CA339850706 | PPT1 | c.97C>A (p.Leu33Met) c.71C>A c.75C>A n.109C>A | |
1 | g.40097143C>A | CA417323205 | PPT1 | c.96G>T (p.Pro32=) c.70G>T c.74G>T n.108G>T | |
1 | g.40097143C>G | CA417323206 | PPT1 | c.96G>C (p.Pro32=) c.70G>C c.74G>C n.108G>C | |
1 | g.40097143C>T | CA417323207 | PPT1 | c.96G>A (p.Pro32=) c.70G>A c.74G>A n.108G>A | |
1 | g.40097144G>A | CA339850709 | PPT1 | c.95C>T (p.Pro32Leu) c.69C>T c.73C>T n.107C>T | gnomAD v4 |
1 | g.40097144G>C | CA339850708 | PPT1 | c.95C>G (p.Pro32Arg) c.69C>G c.73C>G n.107C>G | |
1 | g.40097144G>T | CA339850707 | PPT1 | c.95C>A (p.Pro32Gln) c.69C>A c.73C>A n.107C>A | |
1 | g.40097145G>A | CA339850710 | PPT1 | c.94C>T (p.Pro32Ser) c.68C>T c.72C>T n.106C>T | |
1 | g.40097145G>C | CA339850711 | PPT1 | c.94C>G (p.Pro32Ala) c.68C>G c.72C>G n.106C>G | |
1 | g.40097145G>T | CA339850712 | PPT1 | c.94C>A (p.Pro32Thr) c.68C>A c.72C>A n.106C>A | |
1 | g.40097146C>A | CA417323208 | PPT1 | c.93G>T (p.Ala31=) c.67G>T c.71G>T n.105G>T | |
1 | g.40097146C>G | CA417323209 | PPT1 | c.93G>C (p.Ala31=) c.67G>C c.71G>C n.105G>C | |
1 | g.40097146C>T | CA417323210 | PPT1 | c.93G>A (p.Ala31=) c.67G>A c.71G>A n.105G>A | |
1 | g.40097147G>A | CA339850713 | PPT1 | c.92C>T (p.Ala31Val) c.66C>T c.70C>T n.104C>T | gnomAD v4 |
1 | g.40097147G>C | CA339850714 | PPT1 | c.92C>G (p.Ala31Gly) c.66C>G c.70C>G n.104C>G | gnomAD v4 |
1 | g.40097147G>T | CA339850715 | PPT1 | c.92C>A (p.Ala31Glu) c.66C>A c.70C>A n.104C>A | |
1 | g.40097148C>A | CA339850716 | PPT1 | c.91G>T (p.Ala31Ser) c.65G>T c.69G>T n.103G>T | |
1 | g.40097148C>G | CA339850718 | PPT1 | c.91G>C (p.Ala31Pro) c.65G>C c.69G>C n.103G>C | |
1 | g.40097148C>T | CA339850717 | PPT1 | c.91G>A (p.Ala31Thr) c.65G>A c.69G>A n.103G>A | gnomAD v4 |
1 | g.40097149C>A | CA417323213 | PPT1 | c.90G>T (p.Pro30=) c.64G>T c.68G>T n.102G>T | |
1 | g.40097149C= | CA1164248390 | PPT1 | c.90G= (p.Pro30=) c.64G= c.68G= n.102G= | |
1 | g.40097149C>G | CA417323214 | PPT1 | c.90G>C (p.Pro30=) c.64G>C c.68G>C n.102G>C | |
1 | g.40097149C>T | CA789837 | PPT1 | c.90G>A (p.Pro30=) c.64G>A c.68G>A n.102G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097150G>A | CA789838 | PPT1 | c.89C>T (p.Pro30Leu) c.63C>T c.67C>T n.101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.40097150G>C | CA339850719 | PPT1 | c.89C>G (p.Pro30Arg) c.63C>G c.67C>G n.101C>G | ClinVar gnomAD v4 |
1 | g.40097150G= | CA1164248393 | PPT1 | c.89C= (p.Pro30=) c.63C= c.67C= n.101C= | |
1 | g.40097150G>T | CA339850720 | PPT1 | c.89C>A (p.Pro30Gln) c.63C>A c.67C>A n.101C>A | |
1 | g.40097151G>A | CA339850721 | PPT1 | c.88C>T (p.Pro30Ser) c.62C>T c.66C>T n.100C>T | gnomAD v4 |
1 | g.40097151G>C | CA339850722 | PPT1 | c.88C>G (p.Pro30Ala) c.62C>G c.66C>G n.100C>G | |
1 | g.40097151G>T | CA339850723 | PPT1 | c.88C>A (p.Pro30Thr) c.62C>A c.66C>A n.100C>A | |
1 | g.40097152C>A | CA417323215 | PPT1 | c.87G>T (p.Pro29=) c.61G>T c.65G>T n.99G>T | |
1 | g.40097152C= | CA1164248394 | PPT1 | c.87G= (p.Pro29=) c.61G= c.65G= n.99G= | |
1 | g.40097152C>G | CA417323217 | PPT1 | c.87G>C (p.Pro29=) c.61G>C c.65G>C n.99G>C | gnomAD v4 |
1 | g.40097152C>T | CA417323216 | PPT1 | c.87G>A (p.Pro29=) c.61G>A c.65G>A n.99G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097153G>A | CA339850724 | PPT1 | c.86C>T (p.Pro29Leu) c.60C>T c.64C>T n.98C>T | gnomAD v4 |
1 | g.40097153G>C | CA339850725 | PPT1 | c.86C>G (p.Pro29Arg) c.60C>G c.64C>G n.98C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097153G= | CA1164248397 | PPT1 | c.86C= (p.Pro29=) c.60C= c.64C= n.98C= | |
1 | g.40097153G>T | CA316933 | PPT1 | c.86C>A (p.Pro29Gln) c.60C>A c.64C>A n.98C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097154G>A | CA339850726 | PPT1 | c.85C>T (p.Pro29Ser) c.59C>T c.63C>T n.97C>T | |
1 | g.40097154G>C | CA339850727 | PPT1 | c.85C>G (p.Pro29Ala) c.59C>G c.63C>G n.97C>G | |
1 | g.40097154G>T | CA339850728 | PPT1 | c.85C>A (p.Pro29Thr) c.59C>A c.63C>A n.97C>A | |
1 | g.40097155G>A | CA417323218 | PPT1 | c.84C>T (p.Asp28=) c.58C>T c.62C>T n.96C>T | |
1 | g.40097155G>C | CA339850730 | PPT1 | c.84C>G (p.Asp28Glu) c.58C>G c.62C>G n.96C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097155G= | CA1164248402 | PPT1 | c.84C= (p.Asp28=) c.58C= c.62C= n.96C= | |
1 | g.40097155G>T | CA339850729 | PPT1 | c.84C>A (p.Asp28Glu) c.58C>A c.62C>A n.96C>A | gnomAD v4 |
1 | g.40097156T>A | CA339850731 | PPT1 | c.83A>T (p.Asp28Val) c.57A>T c.61A>T n.95A>T | |
1 | g.40097156T>C | CA789839 | PPT1 | c.83A>G (p.Asp28Gly) c.57A>G c.61A>G n.95A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097156T>G | CA21021014 | PPT1 | c.83A>C (p.Asp28Ala) c.57A>C c.61A>C n.95A>C | dbSNP |
1 | g.40097156T= | CA1149152117 | PPT1 | c.83A= (p.Asp28=) c.57A= c.61A= n.95A= | |
1 | g.40097157C>A | CA339850732 | PPT1 | c.82G>T (p.Asp28Tyr) c.56G>T c.60G>T n.94G>T | |
1 | g.40097157C>G | CA339850734 | PPT1 | c.82G>C (p.Asp28His) c.56G>C c.60G>C n.94G>C | |
1 | g.40097157C>T | CA339850733 | PPT1 | c.82G>A (p.Asp28Asn) c.56G>A c.60G>A n.94G>A | |
1 | g.40097158C>A | CA417323220 | PPT1 | c.81G>T (p.Leu27=) c.55G>T c.59G>T n.93G>T | |
1 | g.40097158C>G | CA417323221 | PPT1 | c.81G>C (p.Leu27=) c.55G>C c.59G>C n.93G>C | |
1 | g.40097158C>T | CA417323222 | PPT1 | c.81G>A (p.Leu27=) c.55G>A c.59G>A n.93G>A | ClinVar |
1 | g.40097159A>C | CA339850735 | PPT1 | c.80T>G (p.Leu27Arg) c.54T>G c.58T>G n.92T>G | |
1 | g.40097159A>G | CA339850737 | PPT1 | c.80T>C (p.Leu27Pro) c.54T>C c.58T>C n.92T>C | |
1 | g.40097159A>T | CA339850736 | PPT1 | c.80T>A (p.Leu27Gln) c.54T>A c.58T>A n.92T>A | |
1 | g.40097160G>A | CA417323224 | PPT1 | c.79C>T (p.Leu27=) c.53C>T c.57C>T n.91C>T | |
1 | g.40097160G>C | CA339850738 | PPT1 | c.79C>G (p.Leu27Val) c.53C>G c.57C>G n.91C>G | |
1 | g.40097160G>T | CA339850739 | PPT1 | c.79C>A (p.Leu27Met) c.53C>A c.57C>A n.91C>A | |
1 | g.40097161A>C | CA339850740 | PPT1 | c.78T>G (p.His26Gln) c.52T>G c.56T>G n.90T>G | |
1 | g.40097161A>G | CA417323225 | PPT1 | c.78T>C (p.His26=) c.52T>C c.56T>C n.90T>C | |
1 | g.40097161A>T | CA339850741 | PPT1 | c.78T>A (p.His26Gln) c.52T>A c.56T>A n.90T>A | |
1 | g.40097162T>A | CA339850742 | PPT1 | c.77A>T (p.His26Leu) c.51A>T c.55A>T n.89A>T | |
1 | g.40097162T>C | CA339850744 | PPT1 | c.77A>G (p.His26Arg) c.51A>G c.55A>G n.89A>G | |
1 | g.40097162T>G | CA339850743 | PPT1 | c.77A>C (p.His26Pro) c.51A>C c.55A>C n.89A>C | |
1 | g.40097163G>A | CA789840 | PPT1 | c.76C>T (p.His26Tyr) c.50C>T c.54C>T n.88C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097163G>C | CA339850745 | PPT1 | c.76C>G (p.His26Asp) c.50C>G c.54C>G n.88C>G | |
1 | g.40097163G= | CA1164248405 | PPT1 | c.76C= (p.His26=) c.50C= c.54C= n.88C= | |
1 | g.40097163G>T | CA339850746 | PPT1 | c.76C>A (p.His26Asn) c.50C>A c.54C>A n.88C>A | |
1 | g.40097164C>A | CA339850747 | PPT1 | c.75G>T (p.Gln25His) c.49G>T c.53G>T n.87G>T | |
1 | g.40097164C= | CA1164248407 | PPT1 | c.75G= (p.Gln25=) c.49G= c.53G= n.87G= | |
1 | g.40097164C>G | CA339850748 | PPT1 | c.75G>C (p.Gln25His) c.49G>C c.53G>C n.87G>C | gnomAD v4 |
1 | g.40097164C>T | CA789841 | PPT1 | c.75G>A (p.Gln25=) c.49G>A c.53G>A n.87G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097165T>A | CA339850749 | PPT1 | c.74A>T (p.Gln25Leu) c.48A>T c.52A>T n.86A>T | |
1 | g.40097165T>C | CA339850750 | PPT1 | c.74A>G (p.Gln25Arg) c.48A>G c.52A>G n.86A>G | gnomAD v4 |
1 | g.40097165T>G | CA339850751 | PPT1 | c.74A>C (p.Gln25Pro) c.48A>C c.52A>C n.86A>C | |
1 | g.40097166G>A | CA339850752 | PPT1 | c.73C>T (p.Gln25Ter) c.47C>T c.51C>T n.85C>T | |
1 | g.40097166G>C | CA339850753 | PPT1 | c.73C>G (p.Gln25Glu) c.47C>G c.51C>G n.85C>G | |
1 | g.40097166G>T | CA339850754 | PPT1 | c.73C>A (p.Gln25Lys) c.47C>A c.51C>A n.85C>A | |
1 | g.40097166_40097167delinsAA | CA2580062750 | PPT1 | c.72_73delinsTT (p.Leu25Ter) c.46_47delinsTT c.50_51delinsTT n.84_85delinsTT | ClinVar |
1 | g.40097167C>A | CA417323227 | PPT1 | c.72G>T (p.Leu24=) c.46G>T c.50G>T n.84G>T | |
1 | g.40097167C>G | CA417323228 | PPT1 | c.72G>C (p.Leu24=) c.46G>C c.50G>C n.84G>C | |
1 | g.40097167C>T | CA417323229 | PPT1 | c.72G>A (p.Leu24=) c.46G>A c.50G>A n.84G>A | ClinVar |
1 | g.40097168A= | CA1148403116 | PPT1 | c.71T= (p.Leu24=) c.45T= c.49T= n.83T= | |
1 | g.40097168A>C | CA339850756 | PPT1 | c.71T>G (p.Leu24Arg) c.45T>G c.49T>G n.83T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097168A>G | CA789842 | PPT1 | c.71T>C (p.Leu24Pro) c.45T>C c.49T>C n.83T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097168A>T | CA339850755 | PPT1 | c.71T>A (p.Leu24Gln) c.45T>A c.49T>A n.83T>A | |
1 | g.40097169G>A | CA417323231 | PPT1 | c.70C>T (p.Leu24=) c.44C>T c.48C>T n.82C>T | |
1 | g.40097169G>C | CA339850757 | PPT1 | c.70C>G (p.Leu24Val) c.44C>G c.48C>G n.82C>G | |
1 | g.40097169G>T | CA339850758 | PPT1 | c.70C>A (p.Leu24Met) c.44C>A c.48C>A n.82C>A | |
1 | g.40097170C>A | CA417323232 | PPT1 | c.69G>T (p.Ala23=) c.43G>T c.47G>T n.81G>T | |
1 | g.40097170C= | CA1139894640 | PPT1 | c.69G= (p.Ala23=) c.43G= c.47G= n.81G= | |
1 | g.40097170C>G | CA789843 | PPT1 | c.69G>C (p.Ala23=) c.43G>C c.47G>C n.81G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097170C>T | CA21021067 | PPT1 | c.69G>A (p.Ala23=) c.43G>A c.47G>A n.81G>A | dbSNP |
1 | g.40097171G>A | CA339850759 | PPT1 | c.68C>T (p.Ala23Val) c.42C>T c.46C>T n.80C>T | |
1 | g.40097171G>C | CA789844 | PPT1 | c.68C>G (p.Ala23Gly) c.42C>G c.46C>G n.80C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097171G= | CA1164248414 | PPT1 | c.68C= (p.Ala23=) c.42C= c.46C= n.80C= | |
1 | g.40097171G>T | CA339850760 | PPT1 | c.68C>A (p.Ala23Glu) c.42C>A c.46C>A n.80C>A | |
1 | g.40097171_40097172insGATG | CA2645093739 | PPT1 | c.68_69insATCC (p.Leu24SerfsTer21) c.68_69insATCC (p.Leu24SerfsTer?) c.42_43insATCC c.46_47insATCC n.80_81insATCC | gnomAD v4 |
1 | g.40097172C>A | CA789846 | PPT1 | c.67G>T (p.Ala23Ser) c.41G>T c.45G>T n.79G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097172C= | CA1149142257 | PPT1 | c.67G= (p.Ala23=) c.41G= c.45G= n.79G= | |
1 | g.40097172C>G | CA789845 | PPT1 | c.67G>C (p.Ala23Pro) c.41G>C c.45G>C n.79G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097172C>T | CA21021092 | PPT1 | c.67G>A (p.Ala23Thr) c.41G>A c.45G>A n.79G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097172_40097173insTG | CA2645093749 | PPT1 | c.66_67insCA (p.Ala23GlnfsTer15) c.40_41insCA c.44_45insCA n.78_79insCA | gnomAD v4 |
1 | g.40097173C>A | CA417323238 | PPT1 | c.66G>T (p.Arg22=) c.40G>T c.44G>T n.78G>T | |
1 | g.40097173C>G | CA417323236 | PPT1 | c.66G>C (p.Arg22=) c.40G>C c.44G>C n.78G>C | |
1 | g.40097173C>T | CA417323235 | PPT1 | c.66G>A (p.Arg22=) c.40G>A c.44G>A n.78G>A | |
1 | g.40097174C>A | CA339850763 | PPT1 | c.65G>T (p.Arg22Leu) c.39G>T c.43G>T n.77G>T | |
1 | g.40097174C= | CA1164248422 | PPT1 | c.65G= (p.Arg22=) c.39G= c.43G= n.77G= | |
1 | g.40097174C>G | CA339850762 | PPT1 | c.65G>C (p.Arg22Pro) c.39G>C c.43G>C n.77G>C | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.40097174C>T | CA339850761 | PPT1 | c.65G>A (p.Arg22Gln) c.39G>A c.43G>A n.77G>A | |
1 | g.40097174_40097178delinsCGAGA | CA1164248423 | PPT1 | c.61_65delinsTCTCG (p.Ser21=) c.35_39delinsTCTCG c.39_43delinsTCTCG n.73_77delinsTCTCG | |
1 | g.40097175G>A | CA339850764 | PPT1 | c.64C>T (p.Arg22Trp) c.38C>T c.42C>T n.76C>T | ClinVar dbSNP gnomAD v4 |
1 | g.40097175G>C | CA339850765 | PPT1 | c.64C>G (p.Arg22Gly) c.38C>G c.42C>G n.76C>G | |
1 | g.40097175G= | CA1164248426 | PPT1 | c.64C= (p.Arg22=) c.38C= c.42C= n.76C= | |
1 | g.40097175G>T | CA417323239 | PPT1 | c.64C>A (p.Arg22=) c.38C>A c.42C>A n.76C>A | gnomAD v4 |
1 | g.40097175_40097178del | CA1164248425 | PPT1 | c.61_64del (p.Ser21GlyfsTer15) c.35_38del c.39_42del n.73_76del | dbSNP |
1 | g.40097175_40097176insGCGGGTCC | CA2645093759 | PPT1 | c.63_64insGGACCCGC (p.Arg22GlyfsTer18) c.37_38insGGACCCGC c.41_42insGGACCCGC n.75_76insGGACCCGC | gnomAD v4 |
1 | g.40097176A= | CA1164248428 | PPT1 | c.63T= (p.Ser21=) c.37T= c.41T= n.75T= | |
1 | g.40097176A>C | CA417323240 | PPT1 | c.63T>G (p.Ser21=) c.37T>G c.41T>G n.75T>G | |
1 | g.40097176A>G | CA789847 | PPT1 | c.63T>C (p.Ser21=) c.37T>C c.41T>C n.75T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097176A>T | CA417323241 | PPT1 | c.63T>A (p.Ser21=) c.37T>A c.41T>A n.75T>A | |
1 | g.40097177G>A | CA316912 | PPT1 | c.62C>T (p.Ser21Phe) c.36C>T c.40C>T n.74C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097177G>C | CA339850766 | PPT1 | c.62C>G (p.Ser21Cys) c.36C>G c.40C>G n.74C>G | |
1 | g.40097177G= | CA1164248431 | PPT1 | c.62C= (p.Ser21=) c.36C= c.40C= n.74C= | |
1 | g.40097177G>T | CA339850767 | PPT1 | c.62C>A (p.Ser21Tyr) c.36C>A c.40C>A n.74C>A | |
1 | g.40097178A= | CA1164248435 | PPT1 | c.61T= (p.Ser21=) c.35T= c.39T= n.73T= | |
1 | g.40097178A>C | CA339850768 | PPT1 | c.61T>G (p.Ser21Ala) c.35T>G c.39T>G n.73T>G | |
1 | g.40097178A>G | CA339850769 | PPT1 | c.61T>C (p.Ser21Pro) c.35T>C c.39T>C n.73T>C | dbSNP |
1 | g.40097178A>T | CA339850770 | PPT1 | c.61T>A (p.Ser21Thr) c.35T>A c.39T>A n.73T>A | |
1 | g.40097179A>C | CA417323245 | PPT1 | c.60T>G (p.Ala20=) c.34T>G c.38T>G n.72T>G | |
1 | g.40097179A>G | CA417323246 | PPT1 | c.60T>C (p.Ala20=) c.34T>C c.38T>C n.72T>C | ClinVar |
1 | g.40097179A>T | CA417323247 | PPT1 | c.60T>A (p.Ala20=) c.34T>A c.38T>A n.72T>A | |
1 | g.40097180del | CA2645093764 | PPT1 | c.59del (p.Ala20ValfsTer17) c.33del c.37del n.71del | gnomAD v4 |
1 | g.40097180G>A | CA339850771 | PPT1 | c.59C>T (p.Ala20Val) c.33C>T c.37C>T n.71C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097180G>C | CA339850772 | PPT1 | c.59C>G (p.Ala20Gly) c.33C>G c.37C>G n.71C>G | |
1 | g.40097180G= | CA1164248440 | PPT1 | c.59C= (p.Ala20=) c.33C= c.37C= n.71C= | |
1 | g.40097180G>T | CA339850773 | PPT1 | c.59C>A (p.Ala20Asp) c.33C>A c.37C>A n.71C>A | |
1 | g.40097181C>A | CA339850776 | PPT1 | c.58G>T (p.Ala20Ser) c.32G>T c.36G>T n.70G>T | |
1 | g.40097181C= | CA1164248441 | PPT1 | c.58G= (p.Ala20=) c.32G= c.36G= n.70G= | |
1 | g.40097181C>G | CA339850775 | PPT1 | c.58G>C (p.Ala20Pro) c.32G>C c.36G>C n.70G>C | |
1 | g.40097181C>T | CA339850774 | PPT1 | c.58G>A (p.Ala20Thr) c.32G>A c.36G>A n.70G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097182G>A | CA417323248 | PPT1 | c.57C>T (p.Cys19=) c.31C>T c.35C>T n.69C>T | ClinVar |
1 | g.40097182G>C | CA789848 | PPT1 | c.57C>G (p.Cys19Trp) c.31C>G c.35C>G n.69C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097182G= | CA1144478323 | PPT1 | c.57C= (p.Cys19=) c.31C= c.35C= n.69C= | |
1 | g.40097182G>T | CA339850777 | PPT1 | c.57C>A (p.Cys19Ter) c.31C>A c.35C>A n.69C>A | |
1 | g.40097182_40097183delinsAG | CA2580062751 | PPT1 | c.56_57delinsCT (p.Cys19Ser) c.30_31delinsCT c.34_35delinsCT n.68_69delinsCT | ClinVar |
1 | g.40097183C>A | CA339850778 | PPT1 | c.56G>T (p.Cys19Phe) c.30G>T c.34G>T n.68G>T | |
1 | g.40097183C>G | CA339850779 | PPT1 | c.56G>C (p.Cys19Ser) c.30G>C c.34G>C n.68G>C | |
1 | g.40097183C>T | CA339850780 | PPT1 | c.56G>A (p.Cys19Tyr) c.30G>A c.34G>A n.68G>A | gnomAD v4 |
1 | g.40097184A>C | CA339850781 | PPT1 | c.55T>G (p.Cys19Gly) c.29T>G c.33T>G n.67T>G | gnomAD v4 |
1 | g.40097184A>G | CA339850782 | PPT1 | c.55T>C (p.Cys19Arg) c.29T>C c.33T>C n.67T>C | |
1 | g.40097184A>T | CA339850783 | PPT1 | c.55T>A (p.Cys19Ser) c.29T>A c.33T>A n.67T>A | gnomAD v4 |
1 | g.40097184_40097191delinsAGGTCCAT | CA1164248443 | PPT1 | c.48_55delinsATGGACCT (p.Pro16=) c.22_29delinsATGGACCT c.26_33delinsATGGACCT n.60_67delinsATGGACCT | |
1 | g.40097185G>A | CA789849 | PPT1 | c.54C>T (p.Thr18=) c.28C>T c.32C>T n.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097185G>C | CA417323250 | PPT1 | c.54C>G (p.Thr18=) c.28C>G c.32C>G n.66C>G | |
1 | g.40097185G= | CA1164248446 | PPT1 | c.54C= (p.Thr18=) c.28C= c.32C= n.66C= | |
1 | g.40097185G>T | CA417323251 | PPT1 | c.54C>A (p.Thr18=) c.28C>A c.32C>A n.66C>A | |
1 | g.40097187_40097193del | CA16040734 | PPT1 | c.48_54del (p.Trp17AlafsTer18) c.22_28del c.26_32del n.60_66del | ClinVar dbSNP |
1 | g.40097186G>A | CA339850784 | PPT1 | c.53C>T (p.Thr18Ile) c.27C>T c.31C>T n.65C>T | |
1 | g.40097186G>C | CA339850785 | PPT1 | c.53C>G (p.Thr18Ser) c.27C>G c.31C>G n.65C>G | |
1 | g.40097186G>T | CA339850786 | PPT1 | c.53C>A (p.Thr18Asn) c.27C>A c.31C>A n.65C>A | |
1 | g.40097187T>A | CA339850789 | PPT1 | c.52A>T (p.Thr18Ser) c.26A>T c.30A>T n.64A>T | |
1 | g.40097187T>C | CA339850788 | PPT1 | c.52A>G (p.Thr18Ala) c.26A>G c.30A>G n.64A>G | |
1 | g.40097187T>G | CA339850787 | PPT1 | c.52A>C (p.Thr18Pro) c.26A>C c.30A>C n.64A>C | |
1 | g.40097188C>A | CA339850791 | PPT1 | c.51G>T (p.Trp17Cys) c.25G>T c.29G>T n.63G>T | |
1 | g.40097188C>G | CA339850790 | PPT1 | c.51G>C (p.Trp17Cys) c.25G>C c.29G>C n.63G>C | |
1 | g.40097188C>T | CA339850792 | PPT1 | c.51G>A (p.Trp17Ter) c.25G>A c.29G>A n.63G>A | ClinVar dbSNP |
1 | g.40097189C>A | CA339850793 | PPT1 | c.50G>T (p.Trp17Leu) c.24G>T c.28G>T n.62G>T | |
1 | g.40097189C>G | CA339850794 | PPT1 | c.50G>C (p.Trp17Ser) c.24G>C c.28G>C n.62G>C | |
1 | g.40097189C>T | CA339850795 | PPT1 | c.50G>A (p.Trp17Ter) c.24G>A c.28G>A n.62G>A | ClinVar |
1 | g.40097190A= | CA1164248449 | PPT1 | c.49T= (p.Trp17=) c.23T= c.27T= n.61T= | |
1 | g.40097190A>C | CA339850796 | PPT1 | c.49T>G (p.Trp17Gly) c.23T>G c.27T>G n.61T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097190A>G | CA789850 | PPT1 | c.49T>C (p.Trp17Arg) c.23T>C c.27T>C n.61T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097190A>T | CA339850797 | PPT1 | c.49T>A (p.Trp17Arg) c.23T>A c.27T>A n.61T>A | gnomAD v4 |
1 | g.40097191T>A | CA417323255 | PPT1 | c.48A>T (p.Pro16=) c.22A>T c.26A>T n.60A>T | ClinVar dbSNP |
1 | g.40097191T>C | CA21021114 | PPT1 | c.48A>G (p.Pro16=) c.22A>G c.26A>G n.60A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097191T>G | CA417323256 | PPT1 | c.48A>C (p.Pro16=) c.22A>C c.26A>C n.60A>C | |
1 | g.40097191T= | CA1164248450 | PPT1 | c.48A= (p.Pro16=) c.22A= c.26A= n.60A= | |
1 | g.40097192G>A | CA339850798 | PPT1 | c.47C>T (p.Pro16Leu) c.21C>T c.25C>T n.59C>T | |
1 | g.40097192G>C | CA339850799 | PPT1 | c.47C>G (p.Pro16Arg) c.21C>G c.25C>G n.59C>G | |
1 | g.40097192G>T | CA339850800 | PPT1 | c.47C>A (p.Pro16Gln) c.21C>A c.25C>A n.59C>A | |
1 | g.40097193G>A | CA339850801 | PPT1 | c.46C>T (p.Pro16Ser) c.20C>T c.24C>T n.58C>T | |
1 | g.40097193G>C | CA339850802 | PPT1 | c.46C>G (p.Pro16Ala) c.20C>G c.24C>G n.58C>G | |
1 | g.40097193G= | CA1164248452 | PPT1 | c.46C= (p.Pro16=) c.20C= c.24C= n.58C= | |
1 | g.40097193G>T | CA21021120 | PPT1 | c.46C>A (p.Pro16Thr) c.20C>A c.24C>A n.58C>A | dbSNP |
1 | g.40097194C>A | CA417323257 | PPT1 | c.45G>T (p.Leu15=) c.19G>T c.23G>T n.57G>T | ClinVar |
1 | g.40097194C>G | CA417323258 | PPT1 | c.45G>C (p.Leu15=) c.19G>C c.23G>C n.57G>C | |
1 | g.40097194C>T | CA417323259 | PPT1 | c.45G>A (p.Leu15=) c.19G>A c.23G>A n.57G>A | dbSNP |
1 | g.40097195A>C | CA339850805 | PPT1 | c.44T>G (p.Leu15Arg) c.18T>G c.22T>G n.56T>G | |
1 | g.40097195A>G | CA339850803 | PPT1 | c.44T>C (p.Leu15Pro) c.18T>C c.22T>C n.56T>C | |
1 | g.40097195A>T | CA339850804 | PPT1 | c.44T>A (p.Leu15Gln) c.18T>A c.22T>A n.56T>A | gnomAD v4 |
1 | g.40097196G>A | CA16603668 | PPT1 | c.43C>T (p.Leu15=) c.17C>T c.21C>T n.55C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097196G>C | CA339850806 | PPT1 | c.43C>G (p.Leu15Val) c.17C>G c.21C>G n.55C>G | |
1 | g.40097196G= | CA1164248455 | PPT1 | c.43C= (p.Leu15=) c.17C= c.21C= n.55C= | |
1 | g.40097196G>T | CA339850807 | PPT1 | c.43C>A (p.Leu15Met) c.17C>A c.21C>A n.55C>A | |
1 | g.40097197dup | CA913074747 | PPT1 | c.43dup (p.Leu15ProfsTer29) c.43dup (p.Leu15ProfsTer?) c.17dup c.21dup n.55dup | |
1 | g.40097197G>A | CA789852 | PPT1 | c.42C>T (p.Leu14=) c.16C>T c.20C>T n.54C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097197G>C | CA417323260 | PPT1 | c.42C>G (p.Leu14=) c.16C>G c.20C>G n.54C>G | |
1 | g.40097197G= | CA1143825365 | PPT1 | c.42C= (p.Leu14=) c.16C= c.20C= n.54C= | |
1 | g.40097197G>T | CA417323261 | PPT1 | c.42C>A (p.Leu14=) c.16C>A c.20C>A n.54C>A | |
1 | g.40097197_40097209dup | CA789851 | PPT1 | c.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 |
1 | g.40097197_40097210delinsGAGAGCCACAGCCA | CA1164248458 | PPT1 | c.29_42delinsTGGCTGTGGCTCTC (p.Leu10=) c.3_16delinsTGGCTGTGGCTCTC c.7_20delinsTGGCTGTGGCTCTC n.41_54delinsTGGCTGTGGCTCTC | |
1 | g.40097198A= | CA1164248463 | PPT1 | c.41T= (p.Leu14=) c.15T= c.19T= n.53T= | |
1 | g.40097198A>C | CA339850808 | PPT1 | c.41T>G (p.Leu14Arg) c.15T>G c.19T>G n.53T>G | |
1 | g.40097198A>G | CA339850809 | PPT1 | c.41T>C (p.Leu14Pro) c.15T>C c.19T>C n.53T>C | gnomAD v4 |
1 | g.40097198A>T | CA339850810 | PPT1 | c.41T>A (p.Leu14His) c.15T>A c.19T>A n.53T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097208_40097220dup | CA789853 | PPT1 | c.29_41dup (p.Leu15GlyfsTer33) c.29_41dup (p.Leu15GlyfsTer?) n.41_53dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097208_40097220del | CA522422882 | PPT1 | c.29_41del (p.Leu10SerfsTer23) n.41_53del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097199G>A | CA789854 | PPT1 | c.40C>T (p.Leu14Phe) c.14C>T c.18C>T n.52C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097199G>C | CA339850811 | PPT1 | c.40C>G (p.Leu14Val) c.14C>G c.18C>G n.52C>G | ClinVar dbSNP |
1 | g.40097199G= | CA1146006268 | PPT1 | c.40C= (p.Leu14=) c.14C= c.18C= n.52C= | |
1 | g.40097199G>T | CA339850812 | PPT1 | c.40C>A (p.Leu14Ile) c.14C>A c.18C>A n.52C>A | |
1 | g.40097200A>C | CA417323262 | PPT1 | c.39T>G (p.Ala13=) c.13T>G c.17T>G n.51T>G | |
1 | g.40097200A>G | CA417323263 | PPT1 | c.39T>C (p.Ala13=) c.13T>C c.17T>C n.51T>C | |
1 | g.40097200A>T | CA417323264 | PPT1 | c.39T>A (p.Ala13=) c.13T>A c.17T>A n.51T>A | |
1 | g.40097201G>A | CA339850814 | PPT1 | c.38C>T (p.Ala13Val) c.12C>T c.16C>T n.50C>T | |
1 | g.40097201G>C | CA10610995 | PPT1 | c.38C>G (p.Ala13Gly) c.12C>G c.16C>G n.50C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097201G= | CA1164248470 | PPT1 | c.38C= (p.Ala13=) c.12C= c.16C= n.50C= | |
1 | g.40097201G>T | CA339850813 | PPT1 | c.38C>A (p.Ala13Asp) c.12C>A c.16C>A n.50C>A | |
1 | g.40097202C>A | CA339850815 | PPT1 | c.37G>T (p.Ala13Ser) c.11G>T c.15G>T n.49G>T | |
1 | g.40097202C>G | CA339850816 | PPT1 | c.37G>C (p.Ala13Pro) c.11G>C c.15G>C n.49G>C | |
1 | g.40097202C>T | CA339850817 | PPT1 | c.37G>A (p.Ala13Thr) c.11G>A c.15G>A n.49G>A | |
1 | g.40097203C>A | CA417323265 | PPT1 | c.36G>T (p.Val12=) c.10G>T c.14G>T n.48G>T | ClinVar dbSNP |
1 | g.40097203C= | CA1164248474 | PPT1 | c.36G= (p.Val12=) c.10G= c.14G= n.48G= | |
1 | g.40097203C>G | CA417323266 | PPT1 | c.36G>C (p.Val12=) c.10G>C c.14G>C n.48G>C | |
1 | g.40097203C>T | CA21021139 | PPT1 | c.36G>A (p.Val12=) c.10G>A c.14G>A n.48G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097204A= | CA1164248478 | PPT1 | c.35T= (p.Val12=) c.9T= c.13T= n.47T= | |
1 | g.40097204A>C | CA339850818 | PPT1 | c.35T>G (p.Val12Gly) c.9T>G c.13T>G n.47T>G | |
1 | g.40097204A>G | CA339850819 | PPT1 | c.35T>C (p.Val12Ala) c.9T>C c.13T>C n.47T>C | ClinVar |
1 | g.40097204A>T | CA339850820 | PPT1 | c.35T>A (p.Val12Glu) c.9T>A c.13T>A n.47T>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097205C>A | CA339850821 | PPT1 | c.34G>T (p.Val12Leu) c.8G>T c.12G>T n.46G>T | |
1 | g.40097205C>G | CA339850822 | PPT1 | c.34G>C (p.Val12Leu) c.8G>C c.12G>C n.46G>C | |
1 | g.40097205C>T | CA339850823 | PPT1 | c.34G>A (p.Val12Met) c.8G>A c.12G>A n.46G>A | |
1 | g.40097206A= | CA1164248481 | PPT1 | c.33T= (p.Ala11=) c.7T= c.11T= n.45T= | |
1 | g.40097206A>C | CA417323267 | PPT1 | c.33T>G (p.Ala11=) c.7T>G c.11T>G n.45T>G | |
1 | g.40097206A>G | CA417323269 | PPT1 | c.33T>C (p.Ala11=) c.7T>C c.11T>C n.45T>C | |
1 | g.40097206A>T | CA417323268 | PPT1 | c.33T>A (p.Ala11=) c.7T>A c.11T>A n.45T>A | dbSNP gnomAD v4 |
1 | g.40097207G>A | CA339850824 | PPT1 | c.32C>T (p.Ala11Val) c.6C>T c.10C>T n.44C>T | gnomAD v4 |
1 | g.40097207G>C | CA339850825 | PPT1 | c.32C>G (p.Ala11Gly) c.6C>G c.10C>G n.44C>G | |
1 | g.40097207G>T | CA339850826 | PPT1 | c.32C>A (p.Ala11Asp) c.6C>A c.10C>A n.44C>A | ClinVar |
1 | g.40097208C>A | CA339850828 | PPT1 | c.31G>T (p.Ala11Ser) c.5G>T c.9G>T n.43G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097208C= | CA1164248485 | PPT1 | c.31G= (p.Ala11=) c.5G= c.9G= n.43G= | |
1 | g.40097208C>G | CA789855 | PPT1 | c.31G>C (p.Ala11Pro) c.5G>C c.9G>C n.43G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.40097208C>T | CA339850827 | PPT1 | c.31G>A (p.Ala11Thr) c.5G>A c.9G>A n.43G>A | |
1 | g.40097208_40097209dup | CA2586966437 | PPT1 | c.30_31dup (p.Ala11GlyfsTer27) c.4_5dup c.8_9dup n.42_43dup | |
1 | g.40097209C>A | CA339850829 | PPT1 | c.30G>T (p.Leu10Phe) c.4G>T c.8G>T n.42G>T | gnomAD v4 |
1 | g.40097209C>G | CA339850830 | PPT1 | c.30G>C (p.Leu10Phe) c.4G>C c.8G>C n.42G>C | |
1 | g.40097209C>T | CA417323271 | PPT1 | c.30G>A (p.Leu10=) c.4G>A c.8G>A n.42G>A | |
1 | g.40097211_40097223del | CA2586966438 | PPT1 | c.18_30del (p.Cys6TrpfsTer27) n.30_42del | |
1 | g.40097210A= | CA1141580728 | PPT1 | c.29T= (p.Leu10=) c.3T= c.7T= n.41T= | |
1 | g.40097210A>C | CA339850831 | PPT1 | c.29T>G (p.Leu10Trp) c.3T>G c.7T>G n.41T>G | |
1 | g.40097210A>G | CA339850832 | PPT1 | c.29T>C (p.Leu10Ser) c.3T>C c.7T>C n.41T>C | |
1 | g.40097210A>T | CA254584 | PPT1 | c.29T>A (p.Leu10Ter) c.3T>A c.7T>A n.41T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097211A>C | CA339850834 | PPT1 | c.28T>G (p.Leu10Val) c.2T>G c.6T>G n.40T>G | |
1 | g.40097211A>G | CA417323272 | PPT1 | c.28T>C (p.Leu10=) c.2T>C c.6T>C n.40T>C | |
1 | g.40097211A>T | CA339850833 | PPT1 | c.28T>A (p.Leu10Met) c.2T>A c.6T>A n.40T>A | |
1 | g.40097212G>A | CA417323273 | PPT1 | c.27C>T (p.Leu9=) c.1C>T c.5C>T n.39C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.40097212G>C | CA789856 | PPT1 | c.27C>G (p.Leu9=) c.1C>G c.5C>G n.39C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097212G= | CA1164248501 | PPT1 | c.27C= (p.Leu9=) c.1C= c.5C= n.39C= | |
1 | g.40097212G>T | CA417323275 | PPT1 | c.27C>A (p.Leu9=) c.1C>A c.5C>A n.39C>A | |
1 | g.40097213A>C | CA339850835 | PPT1 | c.26T>G (p.Leu9Arg) c.4T>G n.38T>G | gnomAD v4 |
1 | g.40097213A>G | CA339850836 | PPT1 | c.26T>C (p.Leu9Pro) c.4T>C n.38T>C | ClinVar COSMIC |
1 | g.40097213A>T | CA339850837 | PPT1 | c.26T>A (p.Leu9His) c.4T>A n.38T>A | gnomAD v4 |
1 | g.40097214G>A | CA339850838 | PPT1 | c.25C>T (p.Leu9Phe) c.3C>T n.37C>T | ClinVar gnomAD v4 |
1 | g.40097214G>C | CA339850839 | PPT1 | c.25C>G (p.Leu9Val) c.3C>G n.37C>G | |
1 | g.40097214G>T | CA339850840 | PPT1 | c.25C>A (p.Leu9Ile) c.3C>A n.37C>A | COSMIC |
1 | g.40097214_40097218dup | CA2580062753 | PPT1 | c.21_25dup (p.Leu9ArgfsTer30) n.33_37dup | ClinVar |
1 | g.40097215C>A | CA339850842 | PPT1 | c.24G>T (p.Trp8Cys) c.2G>T n.36G>T | |
1 | g.40097215C>G | CA339850843 | PPT1 | c.24G>C (p.Trp8Cys) c.2G>C n.36G>C | |
1 | g.40097215C>T | CA339850841 | PPT1 | c.24G>A (p.Trp8Ter) c.2G>A n.36G>A | |
1 | g.40097216C>A | CA339850844 | PPT1 | c.23G>T (p.Trp8Leu) c.1G>T n.35G>T | |
1 | g.40097216C>G | CA339850846 | PPT1 | c.23G>C (p.Trp8Ser) c.1G>C n.35G>C | |
1 | g.40097216C>T | CA339850845 | PPT1 | c.23G>A (p.Trp8Ter) c.1G>A n.35G>A | gnomAD v4 |
1 | g.40097217A>C | CA339850847 | PPT1 | c.22T>G (p.Trp8Gly) n.34T>G | |
1 | g.40097217A>G | CA339850849 | PPT1 | c.22T>C (p.Trp8Arg) n.34T>C | |
1 | g.40097217A>T | CA339850848 | PPT1 | c.22T>A (p.Trp8Arg) n.34T>A | |
1 | g.40097217_40097221del | CA913074748 | PPT1 | c.18_22del (p.Cys6TrpfsTer?) n.30_34del | |
1 | g.40097217_40097221delinsACAGG | CA1164248505 | PPT1 | c.18_22delinsCCTGT (p.Cys6=) n.30_34delinsCCTGT | |
1 | g.40097218C>A | CA417323279 | PPT1 | c.21G>T (p.Leu7=) n.33G>T | |
1 | g.40097218C>G | CA417323280 | PPT1 | c.21G>C (p.Leu7=) n.33G>C | |
1 | g.40097218C>T | CA417323281 | PPT1 | c.21G>A (p.Leu7=) n.33G>A | ClinVar |
1 | g.40097221_40097224del | CA658821014 | PPT1 | c.18_21del (p.Leu7GlyfsTer29) n.30_33del | ClinVar dbSNP |
1 | g.40097219A= | CA1164248509 | PPT1 | c.20T= (p.Leu7=) n.32T= | |
1 | g.40097219A>C | CA339850850 | PPT1 | c.20T>G (p.Leu7Arg) n.32T>G | |
1 | g.40097219A>G | CA339850851 | PPT1 | c.20T>C (p.Leu7Pro) n.32T>C | gnomAD v4 |
1 | g.40097219A>T | CA339850852 | PPT1 | c.20T>A (p.Leu7Gln) n.32T>A | dbSNP |
1 | g.40097220G>A | CA789857 | PPT1 | c.19C>T (p.Leu7=) n.31C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097220G>C | CA339850853 | PPT1 | c.19C>G (p.Leu7Val) n.31C>G | |
1 | g.40097220G= | CA1144048711 | PPT1 | c.19C= (p.Leu7=) n.31C= | |
1 | g.40097220G>T | CA789858 | PPT1 | c.19C>A (p.Leu7Met) n.31C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097221G>A | CA316909 | PPT1 | c.18C>T (p.Cys6=) n.30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097221G>C | CA339850854 | PPT1 | c.18C>G (p.Cys6Trp) n.30C>G | |
1 | g.40097221G= | CA1164248514 | PPT1 | c.18C= (p.Cys6=) n.30C= | |
1 | g.40097221G>T | CA339850855 | PPT1 | c.18C>A (p.Cys6Ter) n.30C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.40097222C>A | CA789861 | PPT1 | c.17G>T (p.Cys6Phe) n.29G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097222C= | CA1143534985 | PPT1 | c.17G= (p.Cys6=) n.29G= | |
1 | g.40097222C>G | CA789860 | PPT1 | c.17G>C (p.Cys6Ser) n.29G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097222C>T | CA789859 | PPT1 | c.17G>A (p.Cys6Tyr) n.29G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40097223A>C | CA339850856 | PPT1 | c.16T>G (p.Cys6Gly) n.28T>G | |
1 | g.40097223A>G | CA339850857 | PPT1 | c.16T>C (p.Cys6Arg) n.28T>C | |
1 | g.40097223A>T | CA339850858 | PPT1 | c.16T>A (p.Cys6Ser) n.28T>A |