| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40097197_40097210delinsGAGAGCCACAGCCA | CA1164248458 | PPT1 | c.29_42delinsTGGCTGTGGCTCTC (p.Leu10=) c.3_16delinsTGGCTGTGGCTCTC c.7_20delinsTGGCTGTGGCTCTC n.41_54delinsTGGCTGTGGCTCTC | |
| 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.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 |