WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40091363_40091364delinsCA | CA1164251402 | PPT1 | c.*234_*235delinsTG (n.*234_*235delinsTG) c.395_396delinsTG (p.Met132=) c.398_399delinsTG (p.Met133=) c.125-1852_125-1851delinsTG (n.125-1852_125-1851delinsTG) c.678_679delinsTG c.270_271delinsTG (p.His90=) c.376_377delinsTG n.635_636delinsTG c.10_11delinsTG c.485_486delinsTG (p.Met162=) c.*250_*251delinsTG (n.*250_*251delinsTG) c.124+5751_124+5752delinsTG (n.124+5751_124+5752delinsTG) c.83_84delinsTG (p.Met28=) c.248_249delinsTG (p.Met83=) c.173_174delinsTG (p.Met58=) | |
| 1 | g.40091364del | CA263502 | PPT1 | c.*234del (n.*234del) c.395del (p.Met132ArgfsTer4) c.398del (p.Met133ArgfsTer4) c.125-1852del (n.125-1852del) c.678del c.270del (p.His90GlnfsTer24) c.376del n.635del c.10del c.485del (p.Met162ArgfsTer4) c.*250del (n.*250del) c.124+5751del (n.124+5751del) c.83del (p.Met28ArgfsTer4) c.248del (p.Met83ArgfsTer4) c.173del (p.Met58ArgfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40091364A= | CA1144228731 | PPT1 | c.*234T= (n.*234T=) c.395T= (p.Met132=) c.398T= (p.Met133=) c.125-1852T= (n.125-1852T=) c.678T= c.270T= (p.His90=) c.376T= n.635T= c.10T= c.485T= (p.Met162=) c.*250T= (n.*250T=) c.124+5751T= (n.124+5751T=) c.83T= (p.Met28=) c.248T= (p.Met83=) c.173T= (p.Met58=) | |
| 1 | g.40091364A>C | CA339848869 | PPT1 | c.*234T>G (n.*234T>G) c.395T>G (p.Met132Arg) c.398T>G (p.Met133Arg) c.125-1852T>G (n.125-1852T>G) c.678T>G c.270T>G (p.His90Gln) c.376T>G n.635T>G c.10T>G c.485T>G (p.Met162Arg) c.*250T>G (n.*250T>G) c.124+5751T>G (n.124+5751T>G) c.83T>G (p.Met28Arg) c.248T>G (p.Met83Arg) c.173T>G (p.Met58Arg) | |
| 1 | g.40091364A>G | CA789719 | PPT1 | c.*234T>C (n.*234T>C) c.395T>C (p.Met132Thr) c.398T>C (p.Met133Thr) c.125-1852T>C (n.125-1852T>C) c.678T>C c.270T>C (p.His90=) c.376T>C n.635T>C c.10T>C c.485T>C (p.Met162Thr) c.*250T>C (n.*250T>C) c.124+5751T>C (n.124+5751T>C) c.83T>C (p.Met28Thr) c.248T>C (p.Met83Thr) c.173T>C (p.Met58Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40091364A>T | CA339848870 | PPT1 | c.*234T>A (n.*234T>A) c.395T>A (p.Met132Lys) c.398T>A (p.Met133Lys) c.125-1852T>A (n.125-1852T>A) c.678T>A c.270T>A (p.His90Gln) c.376T>A n.635T>A c.10T>A c.485T>A (p.Met162Lys) c.*250T>A (n.*250T>A) c.124+5751T>A (n.124+5751T>A) c.83T>A (p.Met28Lys) c.248T>A (p.Met83Lys) c.173T>A (p.Met58Lys) | gnomAD v4 |
| 1 | g.40091365T>A | CA339848871 | PPT1 | c.*233A>T (n.*233A>T) c.394A>T (p.Met132Leu) c.397A>T (p.Met133Leu) c.125-1853A>T (n.125-1853A>T) c.677A>T c.269A>T (p.His90Leu) c.375A>T n.634A>T c.9A>T c.484A>T (p.Met162Leu) c.*249A>T (n.*249A>T) c.124+5750A>T (n.124+5750A>T) c.82A>T (p.Met28Leu) c.247A>T (p.Met83Leu) c.172A>T (p.Met58Leu) | |
| 1 | g.40091365T>C | CA339848872 | PPT1 | c.*233A>G (n.*233A>G) c.394A>G (p.Met132Val) c.397A>G (p.Met133Val) c.125-1853A>G (n.125-1853A>G) c.677A>G c.269A>G (p.His90Arg) c.375A>G n.634A>G c.9A>G c.484A>G (p.Met162Val) c.*249A>G (n.*249A>G) c.124+5750A>G (n.124+5750A>G) c.82A>G (p.Met28Val) c.247A>G (p.Met83Val) c.172A>G (p.Met58Val) | gnomAD v4 |
| 1 | g.40091365T>G | CA339848873 | PPT1 | c.*233A>C (n.*233A>C) c.394A>C (p.Met132Leu) c.397A>C (p.Met133Leu) c.125-1853A>C (n.125-1853A>C) c.677A>C c.269A>C (p.His90Pro) c.375A>C n.634A>C c.9A>C c.484A>C (p.Met162Leu) c.*249A>C (n.*249A>C) c.124+5750A>C (n.124+5750A>C) c.82A>C (p.Met28Leu) c.247A>C (p.Met83Leu) c.172A>C (p.Met58Leu) | |
| 1 | g.40091366G>A | CA417322725 | PPT1 | c.*232C>T (n.*232C>T) c.393C>T (p.Pro131=) c.396C>T (p.Pro132=) c.125-1854C>T (n.125-1854C>T) c.676C>T c.268C>T (p.His90Tyr) c.374C>T n.633C>T c.8C>T c.483C>T (p.Pro161=) c.*248C>T (n.*248C>T) c.124+5749C>T (n.124+5749C>T) c.81C>T (p.Pro27=) c.246C>T (p.Pro82=) c.171C>T (p.Pro57=) | |
| 1 | g.40091366G>C | CA417322726 | PPT1 | c.*232C>G (n.*232C>G) c.393C>G (p.Pro131=) c.396C>G (p.Pro132=) c.125-1854C>G (n.125-1854C>G) c.676C>G c.268C>G (p.His90Asp) c.374C>G n.633C>G c.8C>G c.483C>G (p.Pro161=) c.*248C>G (n.*248C>G) c.124+5749C>G (n.124+5749C>G) c.81C>G (p.Pro27=) c.246C>G (p.Pro82=) c.171C>G (p.Pro57=) | |
| 1 | g.40091366G>T | CA21015829 | PPT1 | c.*232C>A (n.*232C>A) c.393C>A (p.Pro131=) c.396C>A (p.Pro132=) c.125-1854C>A (n.125-1854C>A) c.676C>A c.268C>A (p.His90Asn) c.374C>A n.633C>A c.8C>A c.483C>A (p.Pro161=) c.*248C>A (n.*248C>A) c.124+5749C>A (n.124+5749C>A) c.81C>A (p.Pro27=) c.246C>A (p.Pro82=) c.171C>A (p.Pro57=) | |
| 1 | g.40091367G>A | CA339848874 | PPT1 | c.*231C>T (n.*231C>T) c.392C>T (p.Pro131Leu) c.395C>T (p.Pro132Leu) c.125-1855C>T (n.125-1855C>T) c.675C>T c.267C>T (p.Ser89=) c.373C>T n.632C>T c.7C>T c.482C>T (p.Pro161Leu) c.*247C>T (n.*247C>T) c.124+5748C>T (n.124+5748C>T) c.80C>T (p.Pro27Leu) c.245C>T (p.Pro82Leu) c.170C>T (p.Pro57Leu) | |
| 1 | g.40091367G>C | CA339848875 | PPT1 | c.*231C>G (n.*231C>G) c.392C>G (p.Pro131Arg) c.395C>G (p.Pro132Arg) c.125-1855C>G (n.125-1855C>G) c.675C>G c.267C>G (p.Ser89=) c.373C>G n.632C>G c.7C>G c.482C>G (p.Pro161Arg) c.*247C>G (n.*247C>G) c.124+5748C>G (n.124+5748C>G) c.80C>G (p.Pro27Arg) c.245C>G (p.Pro82Arg) c.170C>G (p.Pro57Arg) | |
| 1 | g.40091367G>T | CA339848876 | PPT1 | c.*231C>A (n.*231C>A) c.392C>A (p.Pro131His) c.395C>A (p.Pro132His) c.125-1855C>A (n.125-1855C>A) c.675C>A c.267C>A (p.Ser89=) c.373C>A n.632C>A c.7C>A c.482C>A (p.Pro161His) c.*247C>A (n.*247C>A) c.124+5748C>A (n.124+5748C>A) c.80C>A (p.Pro27His) c.245C>A (p.Pro82His) c.170C>A (p.Pro57His) | |
| 1 | g.40091368G>A | CA339848877 | PPT1 | c.*230C>T (n.*230C>T) c.391C>T (p.Pro131Ser) c.394C>T (p.Pro132Ser) c.125-1856C>T (n.125-1856C>T) c.674C>T c.266C>T (p.Ser89Phe) c.372C>T n.631C>T c.6C>T c.481C>T (p.Pro161Ser) c.*246C>T (n.*246C>T) c.124+5747C>T (n.124+5747C>T) c.79C>T (p.Pro27Ser) c.244C>T (p.Pro82Ser) c.169C>T (p.Pro57Ser) | dbSNP |
| 1 | g.40091368G>C | CA339848878 | PPT1 | c.*230C>G (n.*230C>G) c.391C>G (p.Pro131Ala) c.394C>G (p.Pro132Ala) c.125-1856C>G (n.125-1856C>G) c.674C>G c.266C>G (p.Ser89Cys) c.372C>G n.631C>G c.6C>G c.481C>G (p.Pro161Ala) c.*246C>G (n.*246C>G) c.124+5747C>G (n.124+5747C>G) c.79C>G (p.Pro27Ala) c.244C>G (p.Pro82Ala) c.169C>G (p.Pro57Ala) | |
| 1 | g.40091368G= | CA1164251408 | PPT1 | c.*230C= (n.*230C=) c.391C= (p.Pro131=) c.394C= (p.Pro132=) c.125-1856C= (n.125-1856C=) c.674C= c.266C= (p.Ser89=) c.372C= n.631C= c.6C= c.481C= (p.Pro161=) c.*246C= (n.*246C=) c.124+5747C= (n.124+5747C=) c.79C= (p.Pro27=) c.244C= (p.Pro82=) c.169C= (p.Pro57=) | |
| 1 | g.40091368G>T | CA339848879 | PPT1 | c.*230C>A (n.*230C>A) c.391C>A (p.Pro131Thr) c.394C>A (p.Pro132Thr) c.125-1856C>A (n.125-1856C>A) c.674C>A c.266C>A (p.Ser89Tyr) c.372C>A n.631C>A c.6C>A c.481C>A (p.Pro161Thr) c.*246C>A (n.*246C>A) c.124+5747C>A (n.124+5747C>A) c.79C>A (p.Pro27Thr) c.244C>A (p.Pro82Thr) c.169C>A (p.Pro57Thr) | |
| 1 | g.40091369A= | CA1164251410 | PPT1 | c.*229T= (n.*229T=) c.390T= (p.Pro130=) c.393T= (p.Pro131=) c.125-1857T= (n.125-1857T=) c.673T= c.265T= (p.Ser89=) c.371T= n.630T= c.5T= c.480T= (p.Pro160=) c.*245T= (n.*245T=) c.124+5746T= (n.124+5746T=) c.78T= (p.Pro26=) c.243T= (p.Pro81=) c.168T= (p.Pro56=) | |
| 1 | g.40091369A>C | CA417322727 | PPT1 | c.*229T>G (n.*229T>G) c.390T>G (p.Pro130=) c.393T>G (p.Pro131=) c.125-1857T>G (n.125-1857T>G) c.673T>G c.265T>G (p.Ser89Ala) c.371T>G n.630T>G c.5T>G c.480T>G (p.Pro160=) c.*245T>G (n.*245T>G) c.124+5746T>G (n.124+5746T>G) c.78T>G (p.Pro26=) c.243T>G (p.Pro81=) c.168T>G (p.Pro56=) | |
| 1 | g.40091369A>G | CA417322728 | PPT1 | c.*229T>C (n.*229T>C) c.390T>C (p.Pro130=) c.393T>C (p.Pro131=) c.125-1857T>C (n.125-1857T>C) c.673T>C c.265T>C (p.Ser89Pro) c.371T>C n.630T>C c.5T>C c.480T>C (p.Pro160=) c.*245T>C (n.*245T>C) c.124+5746T>C (n.124+5746T>C) c.78T>C (p.Pro26=) c.243T>C (p.Pro81=) c.168T>C (p.Pro56=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.40091369A>T | CA417322729 | PPT1 | c.*229T>A (n.*229T>A) c.390T>A (p.Pro130=) c.393T>A (p.Pro131=) c.125-1857T>A (n.125-1857T>A) c.673T>A c.265T>A (p.Ser89Thr) c.371T>A n.630T>A c.5T>A c.480T>A (p.Pro160=) c.*245T>A (n.*245T>A) c.124+5746T>A (n.124+5746T>A) c.78T>A (p.Pro26=) c.243T>A (p.Pro81=) c.168T>A (p.Pro56=) | |
| 1 | g.40091370G>A | CA339848880 | PPT1 | c.*228C>T (n.*228C>T) c.389C>T (p.Pro130Leu) c.392C>T (p.Pro131Leu) c.125-1858C>T (n.125-1858C>T) c.672C>T c.264C>T (p.Thr88=) c.370C>T n.629C>T c.4C>T c.479C>T (p.Pro160Leu) c.*244C>T (n.*244C>T) c.124+5745C>T (n.124+5745C>T) c.77C>T (p.Pro26Leu) c.242C>T (p.Pro81Leu) c.167C>T (p.Pro56Leu) | |
| 1 | g.40091370G>C | CA339848881 | PPT1 | c.*228C>G (n.*228C>G) c.389C>G (p.Pro130Arg) c.392C>G (p.Pro131Arg) c.125-1858C>G (n.125-1858C>G) c.672C>G c.264C>G (p.Thr88=) c.370C>G n.629C>G c.4C>G c.479C>G (p.Pro160Arg) c.*244C>G (n.*244C>G) c.124+5745C>G (n.124+5745C>G) c.77C>G (p.Pro26Arg) c.242C>G (p.Pro81Arg) c.167C>G (p.Pro56Arg) | |
| 1 | g.40091370G>T | CA339848882 | PPT1 | c.*228C>A (n.*228C>A) c.389C>A (p.Pro130His) c.392C>A (p.Pro131His) c.125-1858C>A (n.125-1858C>A) c.672C>A c.264C>A (p.Thr88=) c.370C>A n.629C>A c.4C>A c.479C>A (p.Pro160His) c.*244C>A (n.*244C>A) c.124+5745C>A (n.124+5745C>A) c.77C>A (p.Pro26His) c.242C>A (p.Pro81His) c.167C>A (p.Pro56His) | |
| 1 | g.40091371G>A | CA339848883 | PPT1 | c.*227C>T (n.*227C>T) c.388C>T (p.Pro130Ser) c.391C>T (p.Pro131Ser) c.125-1859C>T (n.125-1859C>T) c.671C>T c.263C>T (p.Thr88Ile) c.369C>T n.628C>T c.3C>T c.478C>T (p.Pro160Ser) c.*243C>T (n.*243C>T) c.124+5744C>T (n.124+5744C>T) c.76C>T (p.Pro26Ser) c.241C>T (p.Pro81Ser) c.166C>T (p.Pro56Ser) | |
| 1 | g.40091371G>C | CA339848884 | PPT1 | c.*227C>G (n.*227C>G) c.388C>G (p.Pro130Ala) c.391C>G (p.Pro131Ala) c.125-1859C>G (n.125-1859C>G) c.671C>G c.263C>G (p.Thr88Ser) c.369C>G n.628C>G c.3C>G c.478C>G (p.Pro160Ala) c.*243C>G (n.*243C>G) c.124+5744C>G (n.124+5744C>G) c.76C>G (p.Pro26Ala) c.241C>G (p.Pro81Ala) c.166C>G (p.Pro56Ala) | |
| 1 | g.40091371G>T | CA339848885 | PPT1 | c.*227C>A (n.*227C>A) c.388C>A (p.Pro130Thr) c.391C>A (p.Pro131Thr) c.125-1859C>A (n.125-1859C>A) c.671C>A c.263C>A (p.Thr88Asn) c.369C>A n.628C>A c.3C>A c.478C>A (p.Pro160Thr) c.*243C>A (n.*243C>A) c.124+5744C>A (n.124+5744C>A) c.76C>A (p.Pro26Thr) c.241C>A (p.Pro81Thr) c.166C>A (p.Pro56Thr) | |
| 1 | g.40091372T>A | CA417322730 | PPT1 | c.*226A>T (n.*226A>T) c.387A>T (p.Ser129=) c.390A>T (p.Ser130=) c.125-1860A>T (n.125-1860A>T) c.670A>T c.262A>T (p.Thr88Ser) c.368A>T n.627A>T c.2A>T c.477A>T (p.Ser159=) c.*242A>T (n.*242A>T) c.124+5743A>T (n.124+5743A>T) c.75A>T (p.Ser25=) c.240A>T (p.Ser80=) c.165A>T (p.Ser55=) | |
| 1 | g.40091372T>C | CA16603710 | PPT1 | c.*226A>G (n.*226A>G) c.387A>G (p.Ser129=) c.390A>G (p.Ser130=) c.125-1860A>G (n.125-1860A>G) c.670A>G c.262A>G (p.Thr88Ala) c.368A>G n.627A>G c.2A>G c.477A>G (p.Ser159=) c.*242A>G (n.*242A>G) c.124+5743A>G (n.124+5743A>G) c.75A>G (p.Ser25=) c.240A>G (p.Ser80=) c.165A>G (p.Ser55=) | ClinVar dbSNP |
| 1 | g.40091372T>G | CA417322731 | PPT1 | c.*226A>C (n.*226A>C) c.387A>C (p.Ser129=) c.390A>C (p.Ser130=) c.125-1860A>C (n.125-1860A>C) c.670A>C c.262A>C (p.Thr88Pro) c.368A>C n.627A>C c.2A>C c.477A>C (p.Ser159=) c.*242A>C (n.*242A>C) c.124+5743A>C (n.124+5743A>C) c.75A>C (p.Ser25=) c.240A>C (p.Ser80=) c.165A>C (p.Ser55=) | |
| 1 | g.40091372T= | CA1164251415 | PPT1 | c.*226A= (n.*226A=) c.387A= (p.Ser129=) c.390A= (p.Ser130=) c.125-1860A= (n.125-1860A=) c.670A= c.262A= (p.Thr88=) c.368A= n.627A= c.2A= c.477A= (p.Ser159=) c.*242A= (n.*242A=) c.124+5743A= (n.124+5743A=) c.75A= (p.Ser25=) c.240A= (p.Ser80=) c.165A= (p.Ser55=) | |
| 1 | g.40091373G>A | CA339848888 | PPT1 | c.*225C>T (n.*225C>T) c.386C>T (p.Ser129Leu) c.389C>T (p.Ser130Leu) c.125-1861C>T (n.125-1861C>T) c.669C>T c.261C>T (p.Phe87=) c.367C>T n.626C>T c.1C>T c.476C>T (p.Ser159Leu) c.*241C>T (n.*241C>T) c.124+5742C>T (n.124+5742C>T) c.74C>T (p.Ser25Leu) c.239C>T (p.Ser80Leu) c.164C>T (p.Ser55Leu) | |
| 1 | g.40091373G>C | CA339848887 | PPT1 | c.*225C>G (n.*225C>G) c.386C>G (p.Ser129Ter) c.389C>G (p.Ser130Ter) c.125-1861C>G (n.125-1861C>G) c.669C>G c.261C>G (p.Phe87Leu) c.367C>G n.626C>G c.1C>G c.476C>G (p.Ser159Ter) c.*241C>G (n.*241C>G) c.124+5742C>G (n.124+5742C>G) c.74C>G (p.Ser25Ter) c.239C>G (p.Ser80Ter) c.164C>G (p.Ser55Ter) | |
| 1 | g.40091373G>T | CA339848886 | PPT1 | c.*225C>A (n.*225C>A) c.386C>A (p.Ser129Ter) c.389C>A (p.Ser130Ter) c.125-1861C>A (n.125-1861C>A) c.669C>A c.261C>A (p.Phe87Leu) c.367C>A n.626C>A c.1C>A c.476C>A (p.Ser159Ter) c.*241C>A (n.*241C>A) c.124+5742C>A (n.124+5742C>A) c.74C>A (p.Ser25Ter) c.239C>A (p.Ser80Ter) c.164C>A (p.Ser55Ter) | |
| 1 | g.40091374A>C | CA339848889 | PPT1 | c.*224T>G (n.*224T>G) c.385T>G (p.Ser129Ala) c.388T>G (p.Ser130Ala) c.125-1862T>G (n.125-1862T>G) c.668T>G c.260T>G (p.Phe87Cys) c.366T>G n.625T>G c.475T>G (p.Ser159Ala) c.*240T>G (n.*240T>G) c.124+5741T>G (n.124+5741T>G) c.73T>G (p.Ser25Ala) c.238T>G (p.Ser80Ala) c.163T>G (p.Ser55Ala) | |
| 1 | g.40091374A>G | CA339848891 | PPT1 | c.*224T>C (n.*224T>C) c.385T>C (p.Ser129Pro) c.388T>C (p.Ser130Pro) c.125-1862T>C (n.125-1862T>C) c.668T>C c.260T>C (p.Phe87Ser) c.366T>C n.625T>C c.475T>C (p.Ser159Pro) c.*240T>C (n.*240T>C) c.124+5741T>C (n.124+5741T>C) c.73T>C (p.Ser25Pro) c.238T>C (p.Ser80Pro) c.163T>C (p.Ser55Pro) | |
| 1 | g.40091374A>T | CA339848890 | PPT1 | c.*224T>A (n.*224T>A) c.385T>A (p.Ser129Thr) c.388T>A (p.Ser130Thr) c.125-1862T>A (n.125-1862T>A) c.668T>A c.260T>A (p.Phe87Tyr) c.366T>A n.625T>A c.475T>A (p.Ser159Thr) c.*240T>A (n.*240T>A) c.124+5741T>A (n.124+5741T>A) c.73T>A (p.Ser25Thr) c.238T>A (p.Ser80Thr) c.163T>A (p.Ser55Thr) | |
| 1 | g.40091375A= | CA1164251418 | PPT1 | c.*223T= (n.*223T=) c.384T= (p.Pro128=) c.387T= (p.Pro129=) c.125-1863T= (n.125-1863T=) c.667T= c.259T= (p.Phe87=) c.365T= n.624T= c.474T= (p.Pro158=) c.*239T= (n.*239T=) c.124+5740T= (n.124+5740T=) c.72T= (p.Pro24=) c.237T= (p.Pro79=) c.162T= (p.Pro54=) | |
| 1 | g.40091375A>C | CA417322733 | PPT1 | c.*223T>G (n.*223T>G) c.384T>G (p.Pro128=) c.387T>G (p.Pro129=) c.125-1863T>G (n.125-1863T>G) c.667T>G c.259T>G (p.Phe87Val) c.365T>G n.624T>G c.474T>G (p.Pro158=) c.*239T>G (n.*239T>G) c.124+5740T>G (n.124+5740T>G) c.72T>G (p.Pro24=) c.237T>G (p.Pro79=) c.162T>G (p.Pro54=) | |
| 1 | g.40091375A>G | CA417322734 | PPT1 | c.*223T>C (n.*223T>C) c.384T>C (p.Pro128=) c.387T>C (p.Pro129=) c.125-1863T>C (n.125-1863T>C) c.667T>C c.259T>C (p.Phe87Leu) c.365T>C n.624T>C c.474T>C (p.Pro158=) c.*239T>C (n.*239T>C) c.124+5740T>C (n.124+5740T>C) c.72T>C (p.Pro24=) c.237T>C (p.Pro79=) c.162T>C (p.Pro54=) | |
| 1 | g.40091375A>T | CA417322735 | PPT1 | c.*223T>A (n.*223T>A) c.384T>A (p.Pro128=) c.387T>A (p.Pro129=) c.125-1863T>A (n.125-1863T>A) c.667T>A c.259T>A (p.Phe87Ile) c.365T>A n.624T>A c.474T>A (p.Pro158=) c.*239T>A (n.*239T>A) c.124+5740T>A (n.124+5740T>A) c.72T>A (p.Pro24=) c.237T>A (p.Pro79=) c.162T>A (p.Pro54=) | |
| 1 | g.40091376G>A | CA789720 | PPT1 | c.*222C>T (n.*222C>T) c.383C>T (p.Pro128Leu) c.386C>T (p.Pro129Leu) c.125-1864C>T (n.125-1864C>T) c.666C>T c.258C>T (p.Pro86=) c.364C>T n.623C>T c.473C>T (p.Pro158Leu) c.*238C>T (n.*238C>T) c.124+5739C>T (n.124+5739C>T) c.71C>T (p.Pro24Leu) c.236C>T (p.Pro79Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40091376G>C | CA339848892 | PPT1 | c.*222C>G (n.*222C>G) c.383C>G (p.Pro128Arg) c.386C>G (p.Pro129Arg) c.125-1864C>G (n.125-1864C>G) c.666C>G c.258C>G (p.Pro86=) c.364C>G n.623C>G c.473C>G (p.Pro158Arg) c.*238C>G (n.*238C>G) c.124+5739C>G (n.124+5739C>G) c.71C>G (p.Pro24Arg) c.236C>G (p.Pro79Arg) c.161C>G (p.Pro54Arg) | dbSNP |
| 1 | g.40091376G= | CA1164251423 | PPT1 | c.*222C= (n.*222C=) c.383C= (p.Pro128=) c.386C= (p.Pro129=) c.125-1864C= (n.125-1864C=) c.666C= c.258C= (p.Pro86=) c.364C= n.623C= c.473C= (p.Pro158=) c.*238C= (n.*238C=) c.124+5739C= (n.124+5739C=) c.71C= (p.Pro24=) c.236C= (p.Pro79=) c.161C= (p.Pro54=) | |
| 1 | g.40091376G>T | CA339848893 | PPT1 | c.*222C>A (n.*222C>A) c.383C>A (p.Pro128His) c.386C>A (p.Pro129His) c.125-1864C>A (n.125-1864C>A) c.666C>A c.258C>A (p.Pro86=) c.364C>A n.623C>A c.473C>A (p.Pro158His) c.*238C>A (n.*238C>A) c.124+5739C>A (n.124+5739C>A) c.71C>A (p.Pro24His) c.236C>A (p.Pro79His) c.161C>A (p.Pro54His) | |
| 1 | g.40091378dup | CA522420930 | PPT1 | c.*222dup (n.*222dup) c.383dup (p.Ser129PhefsTer?) c.386dup (p.Ser130PhefsTer?) c.125-1864dup (n.125-1864dup) c.666dup c.258dup (p.Phe87LeufsTer5) c.364dup n.623dup c.473dup (p.Ser159PhefsTer?) c.*238dup (n.*238dup) c.124+5739dup (n.124+5739dup) c.71dup (p.Ser25PhefsTer?) c.236dup (p.Ser80PhefsTer?) c.161dup (p.Ser55PhefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40091377G>A | CA339848894 | PPT1 | c.*221C>T (n.*221C>T) c.382C>T (p.Pro128Ser) c.385C>T (p.Pro129Ser) c.125-1865C>T (n.125-1865C>T) c.665C>T c.257C>T (p.Pro86Leu) c.363C>T n.622C>T c.472C>T (p.Pro158Ser) c.*237C>T (n.*237C>T) c.124+5738C>T (n.124+5738C>T) c.70C>T (p.Pro24Ser) c.235C>T (p.Pro79Ser) c.160C>T (p.Pro54Ser) | |
| 1 | g.40091377G>C | CA339848895 | PPT1 | c.*221C>G (n.*221C>G) c.382C>G (p.Pro128Ala) c.385C>G (p.Pro129Ala) c.125-1865C>G (n.125-1865C>G) c.665C>G c.257C>G (p.Pro86Arg) c.363C>G n.622C>G c.472C>G (p.Pro158Ala) c.*237C>G (n.*237C>G) c.124+5738C>G (n.124+5738C>G) c.70C>G (p.Pro24Ala) c.235C>G (p.Pro79Ala) c.160C>G (p.Pro54Ala) |