| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40074161A>C | CA339845741 | PPT1 | c.818T>G (p.Met273Arg) c.749T>G (p.Met250Arg) c.512T>G (p.Met171Arg) c.590T>G (p.Met197Arg) c.164T>G (p.Met55Arg) c.*444T>G (n.*444T>G) c.911T>G n.1058T>G c.*31T>G (n.*31T>G) c.243T>G c.908T>G (p.Met303Arg) c.*673T>G (n.*673T>G) c.*250T>G (n.*250T>G) c.821T>G (p.Met274Arg) n.218T>G c.434T>G (p.Met145Arg) c.596T>G (p.Met199Arg) | |
| 1 | g.40074161A>G | CA339845737 | PPT1 | c.818T>C (p.Met273Thr) c.749T>C (p.Met250Thr) c.512T>C (p.Met171Thr) c.590T>C (p.Met197Thr) c.164T>C (p.Met55Thr) c.*444T>C (n.*444T>C) c.911T>C n.1058T>C c.*31T>C (n.*31T>C) c.243T>C c.908T>C (p.Met303Thr) c.*673T>C (n.*673T>C) c.*250T>C (n.*250T>C) c.821T>C (p.Met274Thr) n.218T>C c.434T>C (p.Met145Thr) c.596T>C (p.Met199Thr) | |
| 1 | g.40074161A>T | CA339845739 | PPT1 | c.818T>A (p.Met273Lys) c.749T>A (p.Met250Lys) c.512T>A (p.Met171Lys) c.590T>A (p.Met197Lys) c.164T>A (p.Met55Lys) c.*444T>A (n.*444T>A) c.911T>A n.1058T>A c.*31T>A (n.*31T>A) c.243T>A c.908T>A (p.Met303Lys) c.*673T>A (n.*673T>A) c.*250T>A (n.*250T>A) c.821T>A (p.Met274Lys) n.218T>A c.434T>A (p.Met145Lys) c.596T>A (p.Met199Lys) | |
| 1 | g.40074161dup | CA16040726 | PPT1 | c.818dup (p.Met273IlefsTer21) c.749dup (p.Met250IlefsTer21) c.512dup (p.Met171IlefsTer21) c.590dup (p.Met197IlefsTer?) c.164dup (p.Met55IlefsTer21) c.*444dup (n.*444dup) c.911dup n.1058dup c.*31dup (n.*31dup) c.243dup c.908dup (p.Met303IlefsTer21) c.*673dup (n.*673dup) c.*250dup (n.*250dup) c.821dup (p.Met274IlefsTer21) n.218dup c.434dup (p.Met145IlefsTer21) c.596dup (p.Met199IlefsTer?) | ClinVar dbSNP |
| 1 | g.40074162T>A | CA339845743 | PPT1 | c.817A>T (p.Met273Leu) c.748A>T (p.Met250Leu) c.511A>T (p.Met171Leu) c.589A>T (p.Met197Leu) c.163A>T (p.Met55Leu) c.*443A>T (n.*443A>T) c.910A>T n.1057A>T c.*30A>T (n.*30A>T) c.242A>T c.907A>T (p.Met303Leu) c.*672A>T (n.*672A>T) c.*249A>T (n.*249A>T) c.820A>T (p.Met274Leu) n.217A>T c.433A>T (p.Met145Leu) c.595A>T (p.Met199Leu) | |
| 1 | g.40074162T>C | CA339845745 | PPT1 | c.817A>G (p.Met273Val) c.748A>G (p.Met250Val) c.511A>G (p.Met171Val) c.589A>G (p.Met197Val) c.163A>G (p.Met55Val) c.*443A>G (n.*443A>G) c.910A>G n.1057A>G c.*30A>G (n.*30A>G) c.242A>G c.907A>G (p.Met303Val) c.*672A>G (n.*672A>G) c.*249A>G (n.*249A>G) c.820A>G (p.Met274Val) n.217A>G c.433A>G (p.Met145Val) c.595A>G (p.Met199Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40074162T>G | CA339845747 | PPT1 | c.817A>C (p.Met273Leu) c.748A>C (p.Met250Leu) c.511A>C (p.Met171Leu) c.589A>C (p.Met197Leu) c.163A>C (p.Met55Leu) c.*443A>C (n.*443A>C) c.910A>C n.1057A>C c.*30A>C (n.*30A>C) c.242A>C c.907A>C (p.Met303Leu) c.*672A>C (n.*672A>C) c.*249A>C (n.*249A>C) c.820A>C (p.Met274Leu) n.217A>C c.433A>C (p.Met145Leu) c.595A>C (p.Met199Leu) | |
| 1 | g.40074162T= | CA1164243571 | PPT1 | c.817A= (p.Met273=) c.748A= (p.Met250=) c.511A= (p.Met171=) c.589A= (p.Met197=) c.163A= (p.Met55=) c.*443A= (n.*443A=) c.910A= n.1057A= c.*30A= (n.*30A=) c.242A= c.907A= (p.Met303=) c.*672A= (n.*672A=) c.*249A= (n.*249A=) c.820A= (p.Met274=) n.217A= c.433A= (p.Met145=) c.595A= (p.Met199=) | |
| 1 | g.40074164dup | CA2580062723 | PPT1 | c.817dup (p.Met273AsnfsTer21) c.748dup (p.Met250AsnfsTer21) c.511dup (p.Met171AsnfsTer21) c.589dup (p.Met197AsnfsTer?) c.163dup (p.Met55AsnfsTer21) c.*443dup (n.*443dup) c.910dup n.1057dup c.*30dup (n.*30dup) c.242dup c.907dup (p.Met303AsnfsTer21) c.*672dup (n.*672dup) c.*249dup (n.*249dup) c.820dup (p.Met274AsnfsTer21) n.217dup c.433dup (p.Met145AsnfsTer21) c.595dup (p.Met199AsnfsTer?) | ClinVar |
| 1 | g.40074164del | CA2697552318 | PPT1 | c.817del (p.Met273TrpfsTer7) c.748del (p.Met250TrpfsTer7) c.511del (p.Met171TrpfsTer7) c.589del (p.Met197TrpfsTer7) c.163del (p.Met55TrpfsTer7) c.*443del (n.*443del) c.910del n.1057del c.*30del (n.*30del) c.242del c.907del (p.Met303TrpfsTer7) c.*672del (n.*672del) c.*249del (n.*249del) c.820del (p.Met274TrpfsTer7) n.217del c.433del (p.Met145TrpfsTer7) c.595del (p.Met199TrpfsTer?) | ClinVar |
| 1 | g.40074163T>A | CA339845749 | PPT1 | c.816A>T (p.Glu272Asp) c.747A>T (p.Glu249Asp) c.510A>T (p.Glu170Asp) c.588A>T (p.Glu196Asp) c.162A>T (p.Glu54Asp) c.*442A>T (n.*442A>T) c.909A>T n.1056A>T c.*29A>T (n.*29A>T) c.241A>T c.906A>T (p.Glu302Asp) c.*671A>T (n.*671A>T) c.*248A>T (n.*248A>T) c.819A>T (p.Glu273Asp) n.216A>T c.432A>T (p.Glu144Asp) c.594A>T (p.Glu198Asp) | |
| 1 | g.40074163T>C | CA417322035 | PPT1 | c.816A>G (p.Glu272=) c.747A>G (p.Glu249=) c.510A>G (p.Glu170=) c.588A>G (p.Glu196=) c.162A>G (p.Glu54=) c.*442A>G (n.*442A>G) c.909A>G n.1056A>G c.*29A>G (n.*29A>G) c.241A>G c.906A>G (p.Glu302=) c.*671A>G (n.*671A>G) c.*248A>G (n.*248A>G) c.819A>G (p.Glu273=) n.216A>G c.432A>G (p.Glu144=) c.594A>G (p.Glu198=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40074163T>G | CA339845751 | PPT1 | c.816A>C (p.Glu272Asp) c.747A>C (p.Glu249Asp) c.510A>C (p.Glu170Asp) c.588A>C (p.Glu196Asp) c.162A>C (p.Glu54Asp) c.*442A>C (n.*442A>C) c.909A>C n.1056A>C c.*29A>C (n.*29A>C) c.241A>C c.906A>C (p.Glu302Asp) c.*671A>C (n.*671A>C) c.*248A>C (n.*248A>C) c.819A>C (p.Glu273Asp) n.216A>C c.432A>C (p.Glu144Asp) c.594A>C (p.Glu198Asp) | |
| 1 | g.40074164T>A | CA339845753 | PPT1 | c.815A>T (p.Glu272Val) c.746A>T (p.Glu249Val) c.509A>T (p.Glu170Val) c.587A>T (p.Glu196Val) c.161A>T (p.Glu54Val) c.*441A>T (n.*441A>T) c.908A>T n.1055A>T c.*28A>T (n.*28A>T) c.240A>T c.905A>T (p.Glu302Val) c.*670A>T (n.*670A>T) c.*247A>T (n.*247A>T) c.818A>T (p.Glu273Val) n.215A>T c.431A>T (p.Glu144Val) c.593A>T (p.Glu198Val) | |
| 1 | g.40074164T>C | CA339845755 | PPT1 | c.815A>G (p.Glu272Gly) c.746A>G (p.Glu249Gly) c.509A>G (p.Glu170Gly) c.587A>G (p.Glu196Gly) c.161A>G (p.Glu54Gly) c.*441A>G (n.*441A>G) c.908A>G n.1055A>G c.*28A>G (n.*28A>G) c.240A>G c.905A>G (p.Glu302Gly) c.*670A>G (n.*670A>G) c.*247A>G (n.*247A>G) c.818A>G (p.Glu273Gly) n.215A>G c.431A>G (p.Glu144Gly) c.593A>G (p.Glu198Gly) | |
| 1 | g.40074164T>G | CA339845761 | PPT1 | c.815A>C (p.Glu272Ala) c.746A>C (p.Glu249Ala) c.509A>C (p.Glu170Ala) c.587A>C (p.Glu196Ala) c.161A>C (p.Glu54Ala) c.*441A>C (n.*441A>C) c.908A>C n.1055A>C c.*28A>C (n.*28A>C) c.240A>C c.905A>C (p.Glu302Ala) c.*670A>C (n.*670A>C) c.*247A>C (n.*247A>C) c.818A>C (p.Glu273Ala) n.215A>C c.431A>C (p.Glu144Ala) c.593A>C (p.Glu198Ala) | |
| 1 | g.40074165C>A | CA339845765 | PPT1 | c.814G>T (p.Glu272Ter) c.745G>T (p.Glu249Ter) c.508G>T (p.Glu170Ter) c.586G>T (p.Glu196Ter) c.160G>T (p.Glu54Ter) c.*440G>T (n.*440G>T) c.907G>T n.1054G>T c.*27G>T (n.*27G>T) c.239G>T c.904G>T (p.Glu302Ter) c.*669G>T (n.*669G>T) c.*246G>T (n.*246G>T) c.817G>T (p.Glu273Ter) n.214G>T c.430G>T (p.Glu144Ter) c.592G>T (p.Glu198Ter) | |
| 1 | g.40074165C= | CA1164243572 | PPT1 | c.814G= (p.Glu272=) c.745G= (p.Glu249=) c.508G= (p.Glu170=) c.586G= (p.Glu196=) c.160G= (p.Glu54=) c.*440G= (n.*440G=) c.907G= n.1054G= c.*27G= (n.*27G=) c.239G= c.904G= (p.Glu302=) c.*669G= (n.*669G=) c.*246G= (n.*246G=) c.817G= (p.Glu273=) n.214G= c.430G= (p.Glu144=) c.592G= (p.Glu198=) | |
| 1 | g.40074165C>G | CA339845766 | PPT1 | c.814G>C (p.Glu272Gln) c.745G>C (p.Glu249Gln) c.508G>C (p.Glu170Gln) c.586G>C (p.Glu196Gln) c.160G>C (p.Glu54Gln) c.*440G>C (n.*440G>C) c.907G>C n.1054G>C c.*27G>C (n.*27G>C) c.239G>C c.904G>C (p.Glu302Gln) c.*669G>C (n.*669G>C) c.*246G>C (n.*246G>C) c.817G>C (p.Glu273Gln) n.214G>C c.430G>C (p.Glu144Gln) c.592G>C (p.Glu198Gln) | |
| 1 | g.40074165C>T | CA339845767 | PPT1 | c.814G>A (p.Glu272Lys) c.745G>A (p.Glu249Lys) c.508G>A (p.Glu170Lys) c.586G>A (p.Glu196Lys) c.160G>A (p.Glu54Lys) c.*440G>A (n.*440G>A) c.907G>A n.1054G>A c.*27G>A (n.*27G>A) c.239G>A c.904G>A (p.Glu302Lys) c.*669G>A (n.*669G>A) c.*246G>A (n.*246G>A) c.817G>A (p.Glu273Lys) n.214G>A c.430G>A (p.Glu144Lys) c.592G>A (p.Glu198Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40074166C>A | CA339845769 | PPT1 | c.813G>T (p.Lys271Asn) c.744G>T (p.Lys248Asn) c.507G>T (p.Lys169Asn) c.585G>T (p.Lys195Asn) c.159G>T (p.Lys53Asn) c.*439G>T (n.*439G>T) c.906G>T n.1053G>T c.*26G>T (n.*26G>T) c.238G>T c.903G>T (p.Lys301Asn) c.*668G>T (n.*668G>T) c.*245G>T (n.*245G>T) c.816G>T (p.Lys272Asn) n.213G>T c.429G>T (p.Lys143Asn) c.591G>T (p.Lys197Asn) | |
| 1 | g.40074166C>G | CA339845771 | PPT1 | c.813G>C (p.Lys271Asn) c.744G>C (p.Lys248Asn) c.507G>C (p.Lys169Asn) c.585G>C (p.Lys195Asn) c.159G>C (p.Lys53Asn) c.*439G>C (n.*439G>C) c.906G>C n.1053G>C c.*26G>C (n.*26G>C) c.238G>C c.903G>C (p.Lys301Asn) c.*668G>C (n.*668G>C) c.*245G>C (n.*245G>C) c.816G>C (p.Lys272Asn) n.213G>C c.429G>C (p.Lys143Asn) c.591G>C (p.Lys197Asn) | |
| 1 | g.40074166C>T | CA417322039 | PPT1 | c.813G>A (p.Lys271=) c.744G>A (p.Lys248=) c.507G>A (p.Lys169=) c.585G>A (p.Lys195=) c.159G>A (p.Lys53=) c.*439G>A (n.*439G>A) c.906G>A n.1053G>A c.*26G>A (n.*26G>A) c.238G>A c.903G>A (p.Lys301=) c.*668G>A (n.*668G>A) c.*245G>A (n.*245G>A) c.816G>A (p.Lys272=) n.213G>A c.429G>A (p.Lys143=) c.591G>A (p.Lys197=) | |
| 1 | g.40074167T>A | CA339845773 | PPT1 | c.812A>T (p.Lys271Met) c.743A>T (p.Lys248Met) c.506A>T (p.Lys169Met) c.584A>T (p.Lys195Met) c.158A>T (p.Lys53Met) c.*438A>T (n.*438A>T) c.905A>T n.1052A>T c.*25A>T (n.*25A>T) c.237A>T c.902A>T (p.Lys301Met) c.*667A>T (n.*667A>T) c.*244A>T (n.*244A>T) c.815A>T (p.Lys272Met) n.212A>T c.428A>T (p.Lys143Met) c.590A>T (p.Lys197Met) | |
| 1 | g.40074167T>C | CA339845775 | PPT1 | c.812A>G (p.Lys271Arg) c.743A>G (p.Lys248Arg) c.506A>G (p.Lys169Arg) c.584A>G (p.Lys195Arg) c.158A>G (p.Lys53Arg) c.*438A>G (n.*438A>G) c.905A>G n.1052A>G c.*25A>G (n.*25A>G) c.237A>G c.902A>G (p.Lys301Arg) c.*667A>G (n.*667A>G) c.*244A>G (n.*244A>G) c.815A>G (p.Lys272Arg) n.212A>G c.428A>G (p.Lys143Arg) c.590A>G (p.Lys197Arg) | |
| 1 | g.40074167T>G | CA339845777 | PPT1 | c.812A>C (p.Lys271Thr) c.743A>C (p.Lys248Thr) c.506A>C (p.Lys169Thr) c.584A>C (p.Lys195Thr) c.158A>C (p.Lys53Thr) c.*438A>C (n.*438A>C) c.905A>C n.1052A>C c.*25A>C (n.*25A>C) c.237A>C c.902A>C (p.Lys301Thr) c.*667A>C (n.*667A>C) c.*244A>C (n.*244A>C) c.815A>C (p.Lys272Thr) n.212A>C c.428A>C (p.Lys143Thr) c.590A>C (p.Lys197Thr) | |
| 1 | g.40074168T>A | CA339845781 | PPT1 | c.811A>T (p.Lys271Ter) c.742A>T (p.Lys248Ter) c.505A>T (p.Lys169Ter) c.583A>T (p.Lys195Ter) c.157A>T (p.Lys53Ter) c.*437A>T (n.*437A>T) c.904A>T n.1051A>T c.*24A>T (n.*24A>T) c.236A>T c.901A>T (p.Lys301Ter) c.*666A>T (n.*666A>T) c.*243A>T (n.*243A>T) c.814A>T (p.Lys272Ter) n.211A>T c.427A>T (p.Lys143Ter) c.589A>T (p.Lys197Ter) | |
| 1 | g.40074168T>C | CA339845783 | PPT1 | c.811A>G (p.Lys271Glu) c.742A>G (p.Lys248Glu) c.505A>G (p.Lys169Glu) c.583A>G (p.Lys195Glu) c.157A>G (p.Lys53Glu) c.*437A>G (n.*437A>G) c.904A>G n.1051A>G c.*24A>G (n.*24A>G) c.236A>G c.901A>G (p.Lys301Glu) c.*666A>G (n.*666A>G) c.*243A>G (n.*243A>G) c.814A>G (p.Lys272Glu) n.211A>G c.427A>G (p.Lys143Glu) c.589A>G (p.Lys197Glu) | |
| 1 | g.40074168T>G | CA339845785 | PPT1 | c.811A>C (p.Lys271Gln) c.742A>C (p.Lys248Gln) c.505A>C (p.Lys169Gln) c.583A>C (p.Lys195Gln) c.157A>C (p.Lys53Gln) c.*437A>C (n.*437A>C) c.904A>C n.1051A>C c.*24A>C (n.*24A>C) c.236A>C c.901A>C (p.Lys301Gln) c.*666A>C (n.*666A>C) c.*243A>C (n.*243A>C) c.814A>C (p.Lys272Gln) n.211A>C c.427A>C (p.Lys143Gln) c.589A>C (p.Lys197Gln) | |
| 1 | g.40074169T>A | CA417322042 | PPT1 | c.810A>T (p.Leu270=) c.741A>T (p.Leu247=) c.504A>T (p.Leu168=) c.582A>T (p.Leu194=) c.156A>T (p.Leu52=) c.*436A>T (n.*436A>T) c.903A>T n.1050A>T c.*23A>T (n.*23A>T) c.235A>T c.900A>T (p.Leu300=) c.*665A>T (n.*665A>T) c.*242A>T (n.*242A>T) c.813A>T (p.Leu271=) n.210A>T c.426A>T (p.Leu142=) c.588A>T (p.Leu196=) | |
| 1 | g.40074169T>C | CA417322043 | PPT1 | c.810A>G (p.Leu270=) c.741A>G (p.Leu247=) c.504A>G (p.Leu168=) c.582A>G (p.Leu194=) c.156A>G (p.Leu52=) c.*436A>G (n.*436A>G) c.903A>G n.1050A>G c.*23A>G (n.*23A>G) c.235A>G c.900A>G (p.Leu300=) c.*665A>G (n.*665A>G) c.*242A>G (n.*242A>G) c.813A>G (p.Leu271=) n.210A>G c.426A>G (p.Leu142=) c.588A>G (p.Leu196=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.40074169T>G | CA417322040 | PPT1 | c.810A>C (p.Leu270=) c.741A>C (p.Leu247=) c.504A>C (p.Leu168=) c.582A>C (p.Leu194=) c.156A>C (p.Leu52=) c.*436A>C (n.*436A>C) c.903A>C n.1050A>C c.*23A>C (n.*23A>C) c.235A>C c.900A>C (p.Leu300=) c.*665A>C (n.*665A>C) c.*242A>C (n.*242A>C) c.813A>C (p.Leu271=) n.210A>C c.426A>C (p.Leu142=) c.588A>C (p.Leu196=) | |
| 1 | g.40074170A>C | CA339845787 | PPT1 | c.809T>G (p.Leu270Arg) c.740T>G (p.Leu247Arg) c.503T>G (p.Leu168Arg) c.581T>G (p.Leu194Arg) c.155T>G (p.Leu52Arg) c.*435T>G (n.*435T>G) c.902T>G n.1049T>G c.*22T>G (n.*22T>G) c.234T>G c.899T>G (p.Leu300Arg) c.*664T>G (n.*664T>G) c.*241T>G (n.*241T>G) c.812T>G (p.Leu271Arg) n.209T>G c.425T>G (p.Leu142Arg) c.587T>G (p.Leu196Arg) | |
| 1 | g.40074170A>G | CA339845789 | PPT1 | c.809T>C (p.Leu270Pro) c.740T>C (p.Leu247Pro) c.503T>C (p.Leu168Pro) c.581T>C (p.Leu194Pro) c.155T>C (p.Leu52Pro) c.*435T>C (n.*435T>C) c.902T>C n.1049T>C c.*22T>C (n.*22T>C) c.234T>C c.899T>C (p.Leu300Pro) c.*664T>C (n.*664T>C) c.*241T>C (n.*241T>C) c.812T>C (p.Leu271Pro) n.209T>C c.425T>C (p.Leu142Pro) c.587T>C (p.Leu196Pro) | |
| 1 | g.40074170A>T | CA339845791 | PPT1 | c.809T>A (p.Leu270Gln) c.740T>A (p.Leu247Gln) c.503T>A (p.Leu168Gln) c.581T>A (p.Leu194Gln) c.155T>A (p.Leu52Gln) c.*435T>A (n.*435T>A) c.902T>A n.1049T>A c.*22T>A (n.*22T>A) c.234T>A c.899T>A (p.Leu300Gln) c.*664T>A (n.*664T>A) c.*241T>A (n.*241T>A) c.812T>A (p.Leu271Gln) n.209T>A c.425T>A (p.Leu142Gln) c.587T>A (p.Leu196Gln) | |
| 1 | g.40074171G>A | CA417322044 | PPT1 | c.808C>T (p.Leu270=) c.739C>T (p.Leu247=) c.502C>T (p.Leu168=) c.580C>T (p.Leu194=) c.154C>T (p.Leu52=) c.*434C>T (n.*434C>T) c.901C>T n.1048C>T c.*21C>T (n.*21C>T) c.233C>T c.898C>T (p.Leu300=) c.*663C>T (n.*663C>T) c.*240C>T (n.*240C>T) c.811C>T (p.Leu271=) n.208C>T c.424C>T (p.Leu142=) c.586C>T (p.Leu196=) | |
| 1 | g.40074171G>C | CA339845794 | PPT1 | c.808C>G (p.Leu270Val) c.739C>G (p.Leu247Val) c.502C>G (p.Leu168Val) c.580C>G (p.Leu194Val) c.154C>G (p.Leu52Val) c.*434C>G (n.*434C>G) c.901C>G n.1048C>G c.*21C>G (n.*21C>G) c.233C>G c.898C>G (p.Leu300Val) c.*663C>G (n.*663C>G) c.*240C>G (n.*240C>G) c.811C>G (p.Leu271Val) n.208C>G c.424C>G (p.Leu142Val) c.586C>G (p.Leu196Val) | |
| 1 | g.40074171G>T | CA339845795 | PPT1 | c.808C>A (p.Leu270Ile) c.739C>A (p.Leu247Ile) c.502C>A (p.Leu168Ile) c.580C>A (p.Leu194Ile) c.154C>A (p.Leu52Ile) c.*434C>A (n.*434C>A) c.901C>A n.1048C>A c.*21C>A (n.*21C>A) c.233C>A c.898C>A (p.Leu300Ile) c.*663C>A (n.*663C>A) c.*240C>A (n.*240C>A) c.811C>A (p.Leu271Ile) n.208C>A c.424C>A (p.Leu142Ile) c.586C>A (p.Leu196Ile) | |
| 1 | g.40074171_40074172delinsGC | CA1164243573 | PPT1 | c.807_808delinsGC (p.Gly269=) c.738_739delinsGC (p.Gly246=) c.501_502delinsGC (p.Gly167=) c.579_580delinsGC (p.Gly193=) c.153_154delinsGC (p.Gly51=) c.*433_*434delinsGC (n.*433_*434delinsGC) c.900_901delinsGC n.1047_1048delinsGC c.*20_*21delinsGC (n.*20_*21delinsGC) c.232_233delinsGC c.897_898delinsGC (p.Gly299=) c.*662_*663delinsGC (n.*662_*663delinsGC) c.*239_*240delinsGC (n.*239_*240delinsGC) c.810_811delinsGC (p.Gly270=) n.207_208delinsGC c.423_424delinsGC (p.Gly141=) c.585_586delinsGC (p.Gly195=) | |
| 1 | g.40074172C>A | CA417322046 | PPT1 | c.807G>T (p.Gly269=) c.738G>T (p.Gly246=) c.501G>T (p.Gly167=) c.579G>T (p.Gly193=) c.153G>T (p.Gly51=) c.*433G>T (n.*433G>T) c.900G>T n.1047G>T c.*20G>T (n.*20G>T) c.232G>T c.897G>T (p.Gly299=) c.*662G>T (n.*662G>T) c.*239G>T (n.*239G>T) c.810G>T (p.Gly270=) n.207G>T c.423G>T (p.Gly141=) c.585G>T (p.Gly195=) | ClinVar |
| 1 | g.40074172C= | CA1143780933 | PPT1 | c.807G= (p.Gly269=) c.738G= (p.Gly246=) c.501G= (p.Gly167=) c.579G= (p.Gly193=) c.153G= (p.Gly51=) c.*433G= (n.*433G=) c.900G= n.1047G= c.*20G= (n.*20G=) c.232G= c.897G= (p.Gly299=) c.*662G= (n.*662G=) c.*239G= (n.*239G=) c.810G= (p.Gly270=) n.207G= c.423G= (p.Gly141=) c.585G= (p.Gly195=) | |
| 1 | g.40074172C>G | CA789551 | PPT1 | c.807G>C (p.Gly269=) c.738G>C (p.Gly246=) c.501G>C (p.Gly167=) c.579G>C (p.Gly193=) c.153G>C (p.Gly51=) c.*433G>C (n.*433G>C) c.900G>C n.1047G>C c.*20G>C (n.*20G>C) c.232G>C c.897G>C (p.Gly299=) c.*662G>C (n.*662G>C) c.*239G>C (n.*239G>C) c.810G>C (p.Gly270=) n.207G>C c.423G>C (p.Gly141=) c.585G>C (p.Gly195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40074172C>T | CA417322045 | PPT1 | c.807G>A (p.Gly269=) c.738G>A (p.Gly246=) c.501G>A (p.Gly167=) c.579G>A (p.Gly193=) c.153G>A (p.Gly51=) c.*433G>A (n.*433G>A) c.900G>A n.1047G>A c.*20G>A (n.*20G>A) c.232G>A c.897G>A (p.Gly299=) c.*662G>A (n.*662G>A) c.*239G>A (n.*239G>A) c.810G>A (p.Gly270=) n.207G>A c.423G>A (p.Gly141=) c.585G>A (p.Gly195=) | ClinVar dbSNP |
| 1 | g.40074175del | CA275444 | PPT1 | c.807del (p.Leu270Ter) c.738del (p.Leu247Ter) c.501del (p.Leu168Ter) c.579del (p.Leu194Ter) c.153del (p.Leu52Ter) c.*433del (n.*433del) c.900del n.1047del c.*20del (n.*20del) c.232del c.897del (p.Leu300Ter) c.*662del (n.*662del) c.*239del (n.*239del) c.810del (p.Leu271Ter) n.207del c.423del (p.Leu142Ter) c.585del (p.Leu196Ter) | ClinVar dbSNP |
| 1 | g.40074173C>A | CA339845805 | PPT1 | c.806G>T (p.Gly269Val) c.737G>T (p.Gly246Val) c.500G>T (p.Gly167Val) c.578G>T (p.Gly193Val) c.152G>T (p.Gly51Val) c.*432G>T (n.*432G>T) c.899G>T n.1046G>T c.*19G>T (n.*19G>T) c.231G>T c.896G>T (p.Gly299Val) c.*661G>T (n.*661G>T) c.*238G>T (n.*238G>T) c.809G>T (p.Gly270Val) n.206G>T c.422G>T (p.Gly141Val) c.584G>T (p.Gly195Val) | |
| 1 | g.40074173C= | CA1164243574 | PPT1 | c.806G= (p.Gly269=) c.737G= (p.Gly246=) c.500G= (p.Gly167=) c.578G= (p.Gly193=) c.152G= (p.Gly51=) c.*432G= (n.*432G=) c.899G= n.1046G= c.*19G= (n.*19G=) c.231G= c.896G= (p.Gly299=) c.*661G= (n.*661G=) c.*238G= (n.*238G=) c.809G= (p.Gly270=) n.206G= c.422G= (p.Gly141=) c.584G= (p.Gly195=) | |
| 1 | g.40074173C>G | CA339845800 | PPT1 | c.806G>C (p.Gly269Ala) c.737G>C (p.Gly246Ala) c.500G>C (p.Gly167Ala) c.578G>C (p.Gly193Ala) c.152G>C (p.Gly51Ala) c.*432G>C (n.*432G>C) c.899G>C n.1046G>C c.*19G>C (n.*19G>C) c.231G>C c.896G>C (p.Gly299Ala) c.*661G>C (n.*661G>C) c.*238G>C (n.*238G>C) c.809G>C (p.Gly270Ala) n.206G>C c.422G>C (p.Gly141Ala) c.584G>C (p.Gly195Ala) | |
| 1 | g.40074173C>T | CA339845803 | PPT1 | c.806G>A (p.Gly269Glu) c.737G>A (p.Gly246Glu) c.500G>A (p.Gly167Glu) c.578G>A (p.Gly193Glu) c.152G>A (p.Gly51Glu) c.*432G>A (n.*432G>A) c.899G>A n.1046G>A c.*19G>A (n.*19G>A) c.231G>A c.896G>A (p.Gly299Glu) c.*661G>A (n.*661G>A) c.*238G>A (n.*238G>A) c.809G>A (p.Gly270Glu) n.206G>A c.422G>A (p.Gly141Glu) c.584G>A (p.Gly195Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40074174C>A | CA339845808 | PPT1 | c.805G>T (p.Gly269Trp) c.736G>T (p.Gly246Trp) c.499G>T (p.Gly167Trp) c.577G>T (p.Gly193Trp) c.151G>T (p.Gly51Trp) c.*431G>T (n.*431G>T) c.898G>T n.1045G>T c.*18G>T (n.*18G>T) c.230G>T c.895G>T (p.Gly299Trp) c.*660G>T (n.*660G>T) c.*237G>T (n.*237G>T) c.808G>T (p.Gly270Trp) n.205G>T c.421G>T (p.Gly141Trp) c.583G>T (p.Gly195Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40074174C= | CA1164243575 | PPT1 | c.805G= (p.Gly269=) c.736G= (p.Gly246=) c.499G= (p.Gly167=) c.577G= (p.Gly193=) c.151G= (p.Gly51=) c.*431G= (n.*431G=) c.898G= n.1045G= c.*18G= (n.*18G=) c.230G= c.895G= (p.Gly299=) c.*660G= (n.*660G=) c.*237G= (n.*237G=) c.808G= (p.Gly270=) n.205G= c.421G= (p.Gly141=) c.583G= (p.Gly195=) |