| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018645A= | CA2262104730 | MAPT | c.938A= (p.Glu313=) c.851A= (p.Glu284=) c.1025A= (p.Glu342=) n.796A= n.251A= n.209A= n.443A= c.2201A= (p.Glu734=) c.1910A= (p.Glu637=) c.845A= (p.Glu282=) c.974A= (p.Glu325=) c.1976A= (p.Glu659=) c.758A= (p.Glu253=) c.2030A= (p.Glu677=) c.932A= (p.Glu311=) n.804A= n.6217A= c.2288A= (p.Glu763=) c.2195A= (p.Glu732=) c.2114A= (p.Glu705=) c.2090A= (p.Glu697=) c.1997A= (p.Glu666=) c.1223A= (p.Glu408=) c.1136A= (p.Glu379=) c.1049A= (p.Glu350=) c.771+4367A= (n.771+4367A=) n.856A= | |
| 17 | g.46018645A>C | CA399983672 | MAPT | c.938A>C (p.Glu313Ala) c.851A>C (p.Glu284Ala) c.1025A>C (p.Glu342Ala) n.796A>C n.251A>C n.209A>C n.443A>C c.2201A>C (p.Glu734Ala) c.1910A>C (p.Glu637Ala) c.845A>C (p.Glu282Ala) c.974A>C (p.Glu325Ala) c.1976A>C (p.Glu659Ala) c.758A>C (p.Glu253Ala) c.2030A>C (p.Glu677Ala) c.932A>C (p.Glu311Ala) n.804A>C n.6217A>C c.2288A>C (p.Glu763Ala) c.2195A>C (p.Glu732Ala) c.2114A>C (p.Glu705Ala) c.2090A>C (p.Glu697Ala) c.1997A>C (p.Glu666Ala) c.1223A>C (p.Glu408Ala) c.1136A>C (p.Glu379Ala) c.1049A>C (p.Glu350Ala) c.771+4367A>C (n.771+4367A>C) n.856A>C | |
| 17 | g.46018645A>G | CA399983673 | MAPT | c.938A>G (p.Glu313Gly) c.851A>G (p.Glu284Gly) c.1025A>G (p.Glu342Gly) n.796A>G n.251A>G n.209A>G n.443A>G c.2201A>G (p.Glu734Gly) c.1910A>G (p.Glu637Gly) c.845A>G (p.Glu282Gly) c.974A>G (p.Glu325Gly) c.1976A>G (p.Glu659Gly) c.758A>G (p.Glu253Gly) c.2030A>G (p.Glu677Gly) c.932A>G (p.Glu311Gly) n.804A>G n.6217A>G c.2288A>G (p.Glu763Gly) c.2195A>G (p.Glu732Gly) c.2114A>G (p.Glu705Gly) c.2090A>G (p.Glu697Gly) c.1997A>G (p.Glu666Gly) c.1223A>G (p.Glu408Gly) c.1136A>G (p.Glu379Gly) c.1049A>G (p.Glu350Gly) c.771+4367A>G (n.771+4367A>G) n.856A>G | |
| 17 | g.46018645A>T | CA225485 | MAPT | c.938A>T (p.Glu313Val) c.851A>T (p.Glu284Val) c.1025A>T (p.Glu342Val) n.796A>T n.251A>T n.209A>T n.443A>T c.2201A>T (p.Glu734Val) c.1910A>T (p.Glu637Val) c.845A>T (p.Glu282Val) c.974A>T (p.Glu325Val) c.1976A>T (p.Glu659Val) c.758A>T (p.Glu253Val) c.2030A>T (p.Glu677Val) c.932A>T (p.Glu311Val) n.804A>T n.6217A>T c.2288A>T (p.Glu763Val) c.2195A>T (p.Glu732Val) c.2114A>T (p.Glu705Val) c.2090A>T (p.Glu697Val) c.1997A>T (p.Glu666Val) c.1223A>T (p.Glu408Val) c.1136A>T (p.Glu379Val) c.1049A>T (p.Glu350Val) c.771+4367A>T (n.771+4367A>T) n.856A>T | ClinVar dbSNP |
| 17 | g.46018646G>A | CA500371242 | MAPT | c.939G>A (p.Glu313=) c.852G>A (p.Glu284=) c.1026G>A (p.Glu342=) n.797G>A n.252G>A n.210G>A n.444G>A c.2202G>A (p.Glu734=) c.1911G>A (p.Glu637=) c.846G>A (p.Glu282=) c.975G>A (p.Glu325=) c.1977G>A (p.Glu659=) c.759G>A (p.Glu253=) c.2031G>A (p.Glu677=) c.933G>A (p.Glu311=) n.805G>A n.6218G>A c.2289G>A (p.Glu763=) c.2196G>A (p.Glu732=) c.2115G>A (p.Glu705=) c.2091G>A (p.Glu697=) c.1998G>A (p.Glu666=) c.1224G>A (p.Glu408=) c.1137G>A (p.Glu379=) c.1050G>A (p.Glu350=) c.771+4368G>A (n.771+4368G>A) n.857G>A | |
| 17 | g.46018646G>C | CA399983674 | MAPT | c.939G>C (p.Glu313Asp) c.852G>C (p.Glu284Asp) c.1026G>C (p.Glu342Asp) n.797G>C n.252G>C n.210G>C n.444G>C c.2202G>C (p.Glu734Asp) c.1911G>C (p.Glu637Asp) c.846G>C (p.Glu282Asp) c.975G>C (p.Glu325Asp) c.1977G>C (p.Glu659Asp) c.759G>C (p.Glu253Asp) c.2031G>C (p.Glu677Asp) c.933G>C (p.Glu311Asp) n.805G>C n.6218G>C c.2289G>C (p.Glu763Asp) c.2196G>C (p.Glu732Asp) c.2115G>C (p.Glu705Asp) c.2091G>C (p.Glu697Asp) c.1998G>C (p.Glu666Asp) c.1224G>C (p.Glu408Asp) c.1137G>C (p.Glu379Asp) c.1050G>C (p.Glu350Asp) c.771+4368G>C (n.771+4368G>C) n.857G>C | |
| 17 | g.46018646G>T | CA399983675 | MAPT | c.939G>T (p.Glu313Asp) c.852G>T (p.Glu284Asp) c.1026G>T (p.Glu342Asp) n.797G>T n.252G>T n.210G>T n.444G>T c.2202G>T (p.Glu734Asp) c.1911G>T (p.Glu637Asp) c.846G>T (p.Glu282Asp) c.975G>T (p.Glu325Asp) c.1977G>T (p.Glu659Asp) c.759G>T (p.Glu253Asp) c.2031G>T (p.Glu677Asp) c.933G>T (p.Glu311Asp) n.805G>T n.6218G>T c.2289G>T (p.Glu763Asp) c.2196G>T (p.Glu732Asp) c.2115G>T (p.Glu705Asp) c.2091G>T (p.Glu697Asp) c.1998G>T (p.Glu666Asp) c.1224G>T (p.Glu408Asp) c.1137G>T (p.Glu379Asp) c.1050G>T (p.Glu350Asp) c.771+4368G>T (n.771+4368G>T) n.857G>T | |
| 17 | g.46018647A>C | CA399983676 | MAPT | c.940A>C (p.Lys314Gln) c.853A>C (p.Lys285Gln) c.1027A>C (p.Lys343Gln) n.798A>C n.253A>C n.211A>C n.445A>C c.2203A>C (p.Lys735Gln) c.1912A>C (p.Lys638Gln) c.847A>C (p.Lys283Gln) c.976A>C (p.Lys326Gln) c.1978A>C (p.Lys660Gln) c.760A>C (p.Lys254Gln) c.2032A>C (p.Lys678Gln) c.934A>C (p.Lys312Gln) n.806A>C n.6219A>C c.2290A>C (p.Lys764Gln) c.2197A>C (p.Lys733Gln) c.2116A>C (p.Lys706Gln) c.2092A>C (p.Lys698Gln) c.1999A>C (p.Lys667Gln) c.1225A>C (p.Lys409Gln) c.1138A>C (p.Lys380Gln) c.1051A>C (p.Lys351Gln) c.771+4369A>C (n.771+4369A>C) n.858A>C | |
| 17 | g.46018647A>G | CA399983677 | MAPT | c.940A>G (p.Lys314Glu) c.853A>G (p.Lys285Glu) c.1027A>G (p.Lys343Glu) n.798A>G n.253A>G n.211A>G n.445A>G c.2203A>G (p.Lys735Glu) c.1912A>G (p.Lys638Glu) c.847A>G (p.Lys283Glu) c.976A>G (p.Lys326Glu) c.1978A>G (p.Lys660Glu) c.760A>G (p.Lys254Glu) c.2032A>G (p.Lys678Glu) c.934A>G (p.Lys312Glu) n.806A>G n.6219A>G c.2290A>G (p.Lys764Glu) c.2197A>G (p.Lys733Glu) c.2116A>G (p.Lys706Glu) c.2092A>G (p.Lys698Glu) c.1999A>G (p.Lys667Glu) c.1225A>G (p.Lys409Glu) c.1138A>G (p.Lys380Glu) c.1051A>G (p.Lys351Glu) c.771+4369A>G (n.771+4369A>G) n.858A>G | gnomAD v4 |
| 17 | g.46018647A>T | CA399983678 | MAPT | c.940A>T (p.Lys314Ter) c.853A>T (p.Lys285Ter) c.1027A>T (p.Lys343Ter) n.798A>T n.253A>T n.211A>T n.445A>T c.2203A>T (p.Lys735Ter) c.1912A>T (p.Lys638Ter) c.847A>T (p.Lys283Ter) c.976A>T (p.Lys326Ter) c.1978A>T (p.Lys660Ter) c.760A>T (p.Lys254Ter) c.2032A>T (p.Lys678Ter) c.934A>T (p.Lys312Ter) n.806A>T n.6219A>T c.2290A>T (p.Lys764Ter) c.2197A>T (p.Lys733Ter) c.2116A>T (p.Lys706Ter) c.2092A>T (p.Lys698Ter) c.1999A>T (p.Lys667Ter) c.1225A>T (p.Lys409Ter) c.1138A>T (p.Lys380Ter) c.1051A>T (p.Lys351Ter) c.771+4369A>T (n.771+4369A>T) n.858A>T | |
| 17 | g.46018648A>C | CA399983679 | MAPT | c.941A>C (p.Lys314Thr) c.854A>C (p.Lys285Thr) c.1028A>C (p.Lys343Thr) n.799A>C n.254A>C n.212A>C n.446A>C c.2204A>C (p.Lys735Thr) c.1913A>C (p.Lys638Thr) c.848A>C (p.Lys283Thr) c.977A>C (p.Lys326Thr) c.1979A>C (p.Lys660Thr) c.761A>C (p.Lys254Thr) c.2033A>C (p.Lys678Thr) c.935A>C (p.Lys312Thr) n.807A>C n.6220A>C c.2291A>C (p.Lys764Thr) c.2198A>C (p.Lys733Thr) c.2117A>C (p.Lys706Thr) c.2093A>C (p.Lys698Thr) c.2000A>C (p.Lys667Thr) c.1226A>C (p.Lys409Thr) c.1139A>C (p.Lys380Thr) c.1052A>C (p.Lys351Thr) c.771+4370A>C (n.771+4370A>C) n.859A>C | gnomAD v4 |
| 17 | g.46018648A>G | CA399983680 | MAPT | c.941A>G (p.Lys314Arg) c.854A>G (p.Lys285Arg) c.1028A>G (p.Lys343Arg) n.799A>G n.254A>G n.212A>G n.446A>G c.2204A>G (p.Lys735Arg) c.1913A>G (p.Lys638Arg) c.848A>G (p.Lys283Arg) c.977A>G (p.Lys326Arg) c.1979A>G (p.Lys660Arg) c.761A>G (p.Lys254Arg) c.2033A>G (p.Lys678Arg) c.935A>G (p.Lys312Arg) n.807A>G n.6220A>G c.2291A>G (p.Lys764Arg) c.2198A>G (p.Lys733Arg) c.2117A>G (p.Lys706Arg) c.2093A>G (p.Lys698Arg) c.2000A>G (p.Lys667Arg) c.1226A>G (p.Lys409Arg) c.1139A>G (p.Lys380Arg) c.1052A>G (p.Lys351Arg) c.771+4370A>G (n.771+4370A>G) n.859A>G | |
| 17 | g.46018648A>T | CA399983681 | MAPT | c.941A>T (p.Lys314Met) c.854A>T (p.Lys285Met) c.1028A>T (p.Lys343Met) n.799A>T n.254A>T n.212A>T n.446A>T c.2204A>T (p.Lys735Met) c.1913A>T (p.Lys638Met) c.848A>T (p.Lys283Met) c.977A>T (p.Lys326Met) c.1979A>T (p.Lys660Met) c.761A>T (p.Lys254Met) c.2033A>T (p.Lys678Met) c.935A>T (p.Lys312Met) n.807A>T n.6220A>T c.2291A>T (p.Lys764Met) c.2198A>T (p.Lys733Met) c.2117A>T (p.Lys706Met) c.2093A>T (p.Lys698Met) c.2000A>T (p.Lys667Met) c.1226A>T (p.Lys409Met) c.1139A>T (p.Lys380Met) c.1052A>T (p.Lys351Met) c.771+4370A>T (n.771+4370A>T) n.859A>T | |
| 17 | g.46018649G>A | CA500371243 | MAPT | c.942G>A (p.Lys314=) c.855G>A (p.Lys285=) c.1029G>A (p.Lys343=) n.800G>A n.255G>A n.213G>A n.447G>A c.2205G>A (p.Lys735=) c.1914G>A (p.Lys638=) c.849G>A (p.Lys283=) c.978G>A (p.Lys326=) c.1980G>A (p.Lys660=) c.762G>A (p.Lys254=) c.2034G>A (p.Lys678=) c.936G>A (p.Lys312=) n.808G>A n.6221G>A c.2292G>A (p.Lys764=) c.2199G>A (p.Lys733=) c.2118G>A (p.Lys706=) c.2094G>A (p.Lys698=) c.2001G>A (p.Lys667=) c.1227G>A (p.Lys409=) c.1140G>A (p.Lys380=) c.1053G>A (p.Lys351=) c.771+4371G>A (n.771+4371G>A) n.860G>A | ClinVar |
| 17 | g.46018649G>C | CA399983682 | MAPT | c.942G>C (p.Lys314Asn) c.855G>C (p.Lys285Asn) c.1029G>C (p.Lys343Asn) n.800G>C n.255G>C n.213G>C n.447G>C c.2205G>C (p.Lys735Asn) c.1914G>C (p.Lys638Asn) c.849G>C (p.Lys283Asn) c.978G>C (p.Lys326Asn) c.1980G>C (p.Lys660Asn) c.762G>C (p.Lys254Asn) c.2034G>C (p.Lys678Asn) c.936G>C (p.Lys312Asn) n.808G>C n.6221G>C c.2292G>C (p.Lys764Asn) c.2199G>C (p.Lys733Asn) c.2118G>C (p.Lys706Asn) c.2094G>C (p.Lys698Asn) c.2001G>C (p.Lys667Asn) c.1227G>C (p.Lys409Asn) c.1140G>C (p.Lys380Asn) c.1053G>C (p.Lys351Asn) c.771+4371G>C (n.771+4371G>C) n.860G>C | |
| 17 | g.46018649G>T | CA399983684 | MAPT | c.942G>T (p.Lys314Asn) c.855G>T (p.Lys285Asn) c.1029G>T (p.Lys343Asn) n.800G>T n.255G>T n.213G>T n.447G>T c.2205G>T (p.Lys735Asn) c.1914G>T (p.Lys638Asn) c.849G>T (p.Lys283Asn) c.978G>T (p.Lys326Asn) c.1980G>T (p.Lys660Asn) c.762G>T (p.Lys254Asn) c.2034G>T (p.Lys678Asn) c.936G>T (p.Lys312Asn) n.808G>T n.6221G>T c.2292G>T (p.Lys764Asn) c.2199G>T (p.Lys733Asn) c.2118G>T (p.Lys706Asn) c.2094G>T (p.Lys698Asn) c.2001G>T (p.Lys667Asn) c.1227G>T (p.Lys409Asn) c.1140G>T (p.Lys380Asn) c.1053G>T (p.Lys351Asn) c.771+4371G>T (n.771+4371G>T) n.860G>T | |
| 17 | g.46018650C>A | CA399983685 | MAPT | c.943C>A (p.Leu315Ile) c.856C>A (p.Leu286Ile) c.1030C>A (p.Leu344Ile) n.801C>A n.256C>A n.214C>A n.448C>A c.2206C>A (p.Leu736Ile) c.1915C>A (p.Leu639Ile) c.850C>A (p.Leu284Ile) c.979C>A (p.Leu327Ile) c.1981C>A (p.Leu661Ile) c.763C>A (p.Leu255Ile) c.2035C>A (p.Leu679Ile) c.937C>A (p.Leu313Ile) n.809C>A n.6222C>A c.2293C>A (p.Leu765Ile) c.2200C>A (p.Leu734Ile) c.2119C>A (p.Leu707Ile) c.2095C>A (p.Leu699Ile) c.2002C>A (p.Leu668Ile) c.1228C>A (p.Leu410Ile) c.1141C>A (p.Leu381Ile) c.1054C>A (p.Leu352Ile) c.771+4372C>A (n.771+4372C>A) n.861C>A | |
| 17 | g.46018650C>G | CA399983687 | MAPT | c.943C>G (p.Leu315Val) c.856C>G (p.Leu286Val) c.1030C>G (p.Leu344Val) n.801C>G n.256C>G n.214C>G n.448C>G c.2206C>G (p.Leu736Val) c.1915C>G (p.Leu639Val) c.850C>G (p.Leu284Val) c.979C>G (p.Leu327Val) c.1981C>G (p.Leu661Val) c.763C>G (p.Leu255Val) c.2035C>G (p.Leu679Val) c.937C>G (p.Leu313Val) n.809C>G n.6222C>G c.2293C>G (p.Leu765Val) c.2200C>G (p.Leu734Val) c.2119C>G (p.Leu707Val) c.2095C>G (p.Leu699Val) c.2002C>G (p.Leu668Val) c.1228C>G (p.Leu410Val) c.1141C>G (p.Leu381Val) c.1054C>G (p.Leu352Val) c.771+4372C>G (n.771+4372C>G) n.861C>G | |
| 17 | g.46018650C>T | CA399983686 | MAPT | c.943C>T (p.Leu315Phe) c.856C>T (p.Leu286Phe) c.1030C>T (p.Leu344Phe) n.801C>T n.256C>T n.214C>T n.448C>T c.2206C>T (p.Leu736Phe) c.1915C>T (p.Leu639Phe) c.850C>T (p.Leu284Phe) c.979C>T (p.Leu327Phe) c.1981C>T (p.Leu661Phe) c.763C>T (p.Leu255Phe) c.2035C>T (p.Leu679Phe) c.937C>T (p.Leu313Phe) n.809C>T n.6222C>T c.2293C>T (p.Leu765Phe) c.2200C>T (p.Leu734Phe) c.2119C>T (p.Leu707Phe) c.2095C>T (p.Leu699Phe) c.2002C>T (p.Leu668Phe) c.1228C>T (p.Leu410Phe) c.1141C>T (p.Leu381Phe) c.1054C>T (p.Leu352Phe) c.771+4372C>T (n.771+4372C>T) n.861C>T | |
| 17 | g.46018651T>A | CA399983688 | MAPT | c.944T>A (p.Leu315His) c.857T>A (p.Leu286His) c.1031T>A (p.Leu344His) n.802T>A n.257T>A n.215T>A n.449T>A c.2207T>A (p.Leu736His) c.1916T>A (p.Leu639His) c.851T>A (p.Leu284His) c.980T>A (p.Leu327His) c.1982T>A (p.Leu661His) c.764T>A (p.Leu255His) c.2036T>A (p.Leu679His) c.938T>A (p.Leu313His) n.810T>A n.6223T>A c.2294T>A (p.Leu765His) c.2201T>A (p.Leu734His) c.2120T>A (p.Leu707His) c.2096T>A (p.Leu699His) c.2003T>A (p.Leu668His) c.1229T>A (p.Leu410His) c.1142T>A (p.Leu381His) c.1055T>A (p.Leu352His) c.771+4373T>A (n.771+4373T>A) n.862T>A | |
| 17 | g.46018651T>C | CA399983690 | MAPT | c.944T>C (p.Leu315Pro) c.857T>C (p.Leu286Pro) c.1031T>C (p.Leu344Pro) n.802T>C n.257T>C n.215T>C n.449T>C c.2207T>C (p.Leu736Pro) c.1916T>C (p.Leu639Pro) c.851T>C (p.Leu284Pro) c.980T>C (p.Leu327Pro) c.1982T>C (p.Leu661Pro) c.764T>C (p.Leu255Pro) c.2036T>C (p.Leu679Pro) c.938T>C (p.Leu313Pro) n.810T>C n.6223T>C c.2294T>C (p.Leu765Pro) c.2201T>C (p.Leu734Pro) c.2120T>C (p.Leu707Pro) c.2096T>C (p.Leu699Pro) c.2003T>C (p.Leu668Pro) c.1229T>C (p.Leu410Pro) c.1142T>C (p.Leu381Pro) c.1055T>C (p.Leu352Pro) c.771+4373T>C (n.771+4373T>C) n.862T>C | gnomAD v4 |
| 17 | g.46018651T>G | CA399983689 | MAPT | c.944T>G (p.Leu315Arg) c.857T>G (p.Leu286Arg) c.1031T>G (p.Leu344Arg) n.802T>G n.257T>G n.215T>G n.449T>G c.2207T>G (p.Leu736Arg) c.1916T>G (p.Leu639Arg) c.851T>G (p.Leu284Arg) c.980T>G (p.Leu327Arg) c.1982T>G (p.Leu661Arg) c.764T>G (p.Leu255Arg) c.2036T>G (p.Leu679Arg) c.938T>G (p.Leu313Arg) n.810T>G n.6223T>G c.2294T>G (p.Leu765Arg) c.2201T>G (p.Leu734Arg) c.2120T>G (p.Leu707Arg) c.2096T>G (p.Leu699Arg) c.2003T>G (p.Leu668Arg) c.1229T>G (p.Leu410Arg) c.1142T>G (p.Leu381Arg) c.1055T>G (p.Leu352Arg) c.771+4373T>G (n.771+4373T>G) n.862T>G | |
| 17 | g.46018652T>A | CA500371244 | MAPT | c.945T>A (p.Leu315=) c.858T>A (p.Leu286=) c.1032T>A (p.Leu344=) n.803T>A n.258T>A n.216T>A n.450T>A c.2208T>A (p.Leu736=) c.1917T>A (p.Leu639=) c.852T>A (p.Leu284=) c.981T>A (p.Leu327=) c.1983T>A (p.Leu661=) c.765T>A (p.Leu255=) c.2037T>A (p.Leu679=) c.939T>A (p.Leu313=) n.811T>A n.6224T>A c.2295T>A (p.Leu765=) c.2202T>A (p.Leu734=) c.2121T>A (p.Leu707=) c.2097T>A (p.Leu699=) c.2004T>A (p.Leu668=) c.1230T>A (p.Leu410=) c.1143T>A (p.Leu381=) c.1056T>A (p.Leu352=) c.771+4374T>A (n.771+4374T>A) n.863T>A | dbSNP |
| 17 | g.46018652T>C | CA291114676 | MAPT | c.945T>C (p.Leu315=) c.858T>C (p.Leu286=) c.1032T>C (p.Leu344=) n.803T>C n.258T>C n.216T>C n.450T>C c.2208T>C (p.Leu736=) c.1917T>C (p.Leu639=) c.852T>C (p.Leu284=) c.981T>C (p.Leu327=) c.1983T>C (p.Leu661=) c.765T>C (p.Leu255=) c.2037T>C (p.Leu679=) c.939T>C (p.Leu313=) n.811T>C n.6224T>C c.2295T>C (p.Leu765=) c.2202T>C (p.Leu734=) c.2121T>C (p.Leu707=) c.2097T>C (p.Leu699=) c.2004T>C (p.Leu668=) c.1230T>C (p.Leu410=) c.1143T>C (p.Leu381=) c.1056T>C (p.Leu352=) c.771+4374T>C (n.771+4374T>C) n.863T>C | dbSNP gnomAD v4 |
| 17 | g.46018652T>G | CA500371245 | MAPT | c.945T>G (p.Leu315=) c.858T>G (p.Leu286=) c.1032T>G (p.Leu344=) n.803T>G n.258T>G n.216T>G n.450T>G c.2208T>G (p.Leu736=) c.1917T>G (p.Leu639=) c.852T>G (p.Leu284=) c.981T>G (p.Leu327=) c.1983T>G (p.Leu661=) c.765T>G (p.Leu255=) c.2037T>G (p.Leu679=) c.939T>G (p.Leu313=) n.811T>G n.6224T>G c.2295T>G (p.Leu765=) c.2202T>G (p.Leu734=) c.2121T>G (p.Leu707=) c.2097T>G (p.Leu699=) c.2004T>G (p.Leu668=) c.1230T>G (p.Leu410=) c.1143T>G (p.Leu381=) c.1056T>G (p.Leu352=) c.771+4374T>G (n.771+4374T>G) n.863T>G | |
| 17 | g.46018652T= | CA2262104731 | MAPT | c.945T= (p.Leu315=) c.858T= (p.Leu286=) c.1032T= (p.Leu344=) n.803T= n.258T= n.216T= n.450T= c.2208T= (p.Leu736=) c.1917T= (p.Leu639=) c.852T= (p.Leu284=) c.981T= (p.Leu327=) c.1983T= (p.Leu661=) c.765T= (p.Leu255=) c.2037T= (p.Leu679=) c.939T= (p.Leu313=) n.811T= n.6224T= c.2295T= (p.Leu765=) c.2202T= (p.Leu734=) c.2121T= (p.Leu707=) c.2097T= (p.Leu699=) c.2004T= (p.Leu668=) c.1230T= (p.Leu410=) c.1143T= (p.Leu381=) c.1056T= (p.Leu352=) c.771+4374T= (n.771+4374T=) n.863T= | |
| 17 | g.46018653G>A | CA399983692 | MAPT | c.946G>A (p.Asp316Asn) c.859G>A (p.Asp287Asn) c.1033G>A (p.Asp345Asn) n.804G>A n.259G>A n.217G>A n.451G>A c.2209G>A (p.Asp737Asn) c.1918G>A (p.Asp640Asn) c.853G>A (p.Asp285Asn) c.982G>A (p.Asp328Asn) c.1984G>A (p.Asp662Asn) c.766G>A (p.Asp256Asn) c.2038G>A (p.Asp680Asn) c.940G>A (p.Asp314Asn) n.812G>A n.6225G>A c.2296G>A (p.Asp766Asn) c.2203G>A (p.Asp735Asn) c.2122G>A (p.Asp708Asn) c.2098G>A (p.Asp700Asn) c.2005G>A (p.Asp669Asn) c.1231G>A (p.Asp411Asn) c.1144G>A (p.Asp382Asn) c.1057G>A (p.Asp353Asn) c.771+4375G>A (n.771+4375G>A) n.864G>A | |
| 17 | g.46018653G>C | CA399983691 | MAPT | c.946G>C (p.Asp316His) c.859G>C (p.Asp287His) c.1033G>C (p.Asp345His) n.804G>C n.259G>C n.217G>C n.451G>C c.2209G>C (p.Asp737His) c.1918G>C (p.Asp640His) c.853G>C (p.Asp285His) c.982G>C (p.Asp328His) c.1984G>C (p.Asp662His) c.766G>C (p.Asp256His) c.2038G>C (p.Asp680His) c.940G>C (p.Asp314His) n.812G>C n.6225G>C c.2296G>C (p.Asp766His) c.2203G>C (p.Asp735His) c.2122G>C (p.Asp708His) c.2098G>C (p.Asp700His) c.2005G>C (p.Asp669His) c.1231G>C (p.Asp411His) c.1144G>C (p.Asp382His) c.1057G>C (p.Asp353His) c.771+4375G>C (n.771+4375G>C) n.864G>C | |
| 17 | g.46018653G>T | CA399983693 | MAPT | c.946G>T (p.Asp316Tyr) c.859G>T (p.Asp287Tyr) c.1033G>T (p.Asp345Tyr) n.804G>T n.259G>T n.217G>T n.451G>T c.2209G>T (p.Asp737Tyr) c.1918G>T (p.Asp640Tyr) c.853G>T (p.Asp285Tyr) c.982G>T (p.Asp328Tyr) c.1984G>T (p.Asp662Tyr) c.766G>T (p.Asp256Tyr) c.2038G>T (p.Asp680Tyr) c.940G>T (p.Asp314Tyr) n.812G>T n.6225G>T c.2296G>T (p.Asp766Tyr) c.2203G>T (p.Asp735Tyr) c.2122G>T (p.Asp708Tyr) c.2098G>T (p.Asp700Tyr) c.2005G>T (p.Asp669Tyr) c.1231G>T (p.Asp411Tyr) c.1144G>T (p.Asp382Tyr) c.1057G>T (p.Asp353Tyr) c.771+4375G>T (n.771+4375G>T) n.864G>T | |
| 17 | g.46018654A>C | CA399983694 | MAPT | c.947A>C (p.Asp316Ala) c.860A>C (p.Asp287Ala) c.1034A>C (p.Asp345Ala) n.805A>C n.260A>C n.218A>C n.452A>C c.2210A>C (p.Asp737Ala) c.1919A>C (p.Asp640Ala) c.854A>C (p.Asp285Ala) c.983A>C (p.Asp328Ala) c.1985A>C (p.Asp662Ala) c.767A>C (p.Asp256Ala) c.2039A>C (p.Asp680Ala) c.941A>C (p.Asp314Ala) n.813A>C n.6226A>C c.2297A>C (p.Asp766Ala) c.2204A>C (p.Asp735Ala) c.2123A>C (p.Asp708Ala) c.2099A>C (p.Asp700Ala) c.2006A>C (p.Asp669Ala) c.1232A>C (p.Asp411Ala) c.1145A>C (p.Asp382Ala) c.1058A>C (p.Asp353Ala) c.771+4376A>C (n.771+4376A>C) n.865A>C | |
| 17 | g.46018654A>G | CA399983696 | MAPT | c.947A>G (p.Asp316Gly) c.860A>G (p.Asp287Gly) c.1034A>G (p.Asp345Gly) n.805A>G n.260A>G n.218A>G n.452A>G c.2210A>G (p.Asp737Gly) c.1919A>G (p.Asp640Gly) c.854A>G (p.Asp285Gly) c.983A>G (p.Asp328Gly) c.1985A>G (p.Asp662Gly) c.767A>G (p.Asp256Gly) c.2039A>G (p.Asp680Gly) c.941A>G (p.Asp314Gly) n.813A>G n.6226A>G c.2297A>G (p.Asp766Gly) c.2204A>G (p.Asp735Gly) c.2123A>G (p.Asp708Gly) c.2099A>G (p.Asp700Gly) c.2006A>G (p.Asp669Gly) c.1232A>G (p.Asp411Gly) c.1145A>G (p.Asp382Gly) c.1058A>G (p.Asp353Gly) c.771+4376A>G (n.771+4376A>G) n.865A>G | |
| 17 | g.46018654A>T | CA399983695 | MAPT | c.947A>T (p.Asp316Val) c.860A>T (p.Asp287Val) c.1034A>T (p.Asp345Val) n.805A>T n.260A>T n.218A>T n.452A>T c.2210A>T (p.Asp737Val) c.1919A>T (p.Asp640Val) c.854A>T (p.Asp285Val) c.983A>T (p.Asp328Val) c.1985A>T (p.Asp662Val) c.767A>T (p.Asp256Val) c.2039A>T (p.Asp680Val) c.941A>T (p.Asp314Val) n.813A>T n.6226A>T c.2297A>T (p.Asp766Val) c.2204A>T (p.Asp735Val) c.2123A>T (p.Asp708Val) c.2099A>T (p.Asp700Val) c.2006A>T (p.Asp669Val) c.1232A>T (p.Asp411Val) c.1145A>T (p.Asp382Val) c.1058A>T (p.Asp353Val) c.771+4376A>T (n.771+4376A>T) n.865A>T | |
| 17 | g.46018655C>A | CA399983697 | MAPT | c.948C>A (p.Asp316Glu) c.861C>A (p.Asp287Glu) c.1035C>A (p.Asp345Glu) n.806C>A n.261C>A n.219C>A n.453C>A c.2211C>A (p.Asp737Glu) c.1920C>A (p.Asp640Glu) c.855C>A (p.Asp285Glu) c.984C>A (p.Asp328Glu) c.1986C>A (p.Asp662Glu) c.768C>A (p.Asp256Glu) c.2040C>A (p.Asp680Glu) c.942C>A (p.Asp314Glu) n.814C>A n.6227C>A c.2298C>A (p.Asp766Glu) c.2205C>A (p.Asp735Glu) c.2124C>A (p.Asp708Glu) c.2100C>A (p.Asp700Glu) c.2007C>A (p.Asp669Glu) c.1233C>A (p.Asp411Glu) c.1146C>A (p.Asp382Glu) c.1059C>A (p.Asp353Glu) c.771+4377C>A (n.771+4377C>A) n.866C>A | |
| 17 | g.46018655C= | CA2262104732 | MAPT | c.948C= (p.Asp316=) c.861C= (p.Asp287=) c.1035C= (p.Asp345=) n.806C= n.261C= n.219C= n.453C= c.2211C= (p.Asp737=) c.1920C= (p.Asp640=) c.855C= (p.Asp285=) c.984C= (p.Asp328=) c.1986C= (p.Asp662=) c.768C= (p.Asp256=) c.2040C= (p.Asp680=) c.942C= (p.Asp314=) n.814C= n.6227C= c.2298C= (p.Asp766=) c.2205C= (p.Asp735=) c.2124C= (p.Asp708=) c.2100C= (p.Asp700=) c.2007C= (p.Asp669=) c.1233C= (p.Asp411=) c.1146C= (p.Asp382=) c.1059C= (p.Asp353=) c.771+4377C= (n.771+4377C=) n.866C= | |
| 17 | g.46018655C>G | CA399983698 | MAPT | c.948C>G (p.Asp316Glu) c.861C>G (p.Asp287Glu) c.1035C>G (p.Asp345Glu) n.806C>G n.261C>G n.219C>G n.453C>G c.2211C>G (p.Asp737Glu) c.1920C>G (p.Asp640Glu) c.855C>G (p.Asp285Glu) c.984C>G (p.Asp328Glu) c.1986C>G (p.Asp662Glu) c.768C>G (p.Asp256Glu) c.2040C>G (p.Asp680Glu) c.942C>G (p.Asp314Glu) n.814C>G n.6227C>G c.2298C>G (p.Asp766Glu) c.2205C>G (p.Asp735Glu) c.2124C>G (p.Asp708Glu) c.2100C>G (p.Asp700Glu) c.2007C>G (p.Asp669Glu) c.1233C>G (p.Asp411Glu) c.1146C>G (p.Asp382Glu) c.1059C>G (p.Asp353Glu) c.771+4377C>G (n.771+4377C>G) n.866C>G | |
| 17 | g.46018655C>T | CA500371246 | MAPT | c.948C>T (p.Asp316=) c.861C>T (p.Asp287=) c.1035C>T (p.Asp345=) n.806C>T n.261C>T n.219C>T n.453C>T c.2211C>T (p.Asp737=) c.1920C>T (p.Asp640=) c.855C>T (p.Asp285=) c.984C>T (p.Asp328=) c.1986C>T (p.Asp662=) c.768C>T (p.Asp256=) c.2040C>T (p.Asp680=) c.942C>T (p.Asp314=) n.814C>T n.6227C>T c.2298C>T (p.Asp766=) c.2205C>T (p.Asp735=) c.2124C>T (p.Asp708=) c.2100C>T (p.Asp700=) c.2007C>T (p.Asp669=) c.1233C>T (p.Asp411=) c.1146C>T (p.Asp382=) c.1059C>T (p.Asp353=) c.771+4377C>T (n.771+4377C>T) n.866C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.46018656T>A | CA399983699 | MAPT | c.949T>A (p.Phe317Ile) c.862T>A (p.Phe288Ile) c.1036T>A (p.Phe346Ile) n.807T>A n.262T>A n.220T>A n.454T>A c.2212T>A (p.Phe738Ile) c.1921T>A (p.Phe641Ile) c.856T>A (p.Phe286Ile) c.985T>A (p.Phe329Ile) c.1987T>A (p.Phe663Ile) c.769T>A (p.Phe257Ile) c.2041T>A (p.Phe681Ile) c.943T>A (p.Phe315Ile) n.815T>A n.6228T>A c.2299T>A (p.Phe767Ile) c.2206T>A (p.Phe736Ile) c.2125T>A (p.Phe709Ile) c.2101T>A (p.Phe701Ile) c.2008T>A (p.Phe670Ile) c.1234T>A (p.Phe412Ile) c.1147T>A (p.Phe383Ile) c.1060T>A (p.Phe354Ile) c.771+4378T>A (n.771+4378T>A) n.867T>A | |
| 17 | g.46018656T>C | CA399983700 | MAPT | c.949T>C (p.Phe317Leu) c.862T>C (p.Phe288Leu) c.1036T>C (p.Phe346Leu) n.807T>C n.262T>C n.220T>C n.454T>C c.2212T>C (p.Phe738Leu) c.1921T>C (p.Phe641Leu) c.856T>C (p.Phe286Leu) c.985T>C (p.Phe329Leu) c.1987T>C (p.Phe663Leu) c.769T>C (p.Phe257Leu) c.2041T>C (p.Phe681Leu) c.943T>C (p.Phe315Leu) n.815T>C n.6228T>C c.2299T>C (p.Phe767Leu) c.2206T>C (p.Phe736Leu) c.2125T>C (p.Phe709Leu) c.2101T>C (p.Phe701Leu) c.2008T>C (p.Phe670Leu) c.1234T>C (p.Phe412Leu) c.1147T>C (p.Phe383Leu) c.1060T>C (p.Phe354Leu) c.771+4378T>C (n.771+4378T>C) n.867T>C | |
| 17 | g.46018656T>G | CA399983701 | MAPT | c.949T>G (p.Phe317Val) c.862T>G (p.Phe288Val) c.1036T>G (p.Phe346Val) n.807T>G n.262T>G n.220T>G n.454T>G c.2212T>G (p.Phe738Val) c.1921T>G (p.Phe641Val) c.856T>G (p.Phe286Val) c.985T>G (p.Phe329Val) c.1987T>G (p.Phe663Val) c.769T>G (p.Phe257Val) c.2041T>G (p.Phe681Val) c.943T>G (p.Phe315Val) n.815T>G n.6228T>G c.2299T>G (p.Phe767Val) c.2206T>G (p.Phe736Val) c.2125T>G (p.Phe709Val) c.2101T>G (p.Phe701Val) c.2008T>G (p.Phe670Val) c.1234T>G (p.Phe412Val) c.1147T>G (p.Phe383Val) c.1060T>G (p.Phe354Val) c.771+4378T>G (n.771+4378T>G) n.867T>G | |
| 17 | g.46018657T>A | CA399983702 | MAPT | c.950T>A (p.Phe317Tyr) c.863T>A (p.Phe288Tyr) c.1037T>A (p.Phe346Tyr) n.808T>A n.263T>A n.221T>A n.455T>A c.2213T>A (p.Phe738Tyr) c.1922T>A (p.Phe641Tyr) c.857T>A (p.Phe286Tyr) c.986T>A (p.Phe329Tyr) c.1988T>A (p.Phe663Tyr) c.770T>A (p.Phe257Tyr) c.2042T>A (p.Phe681Tyr) c.944T>A (p.Phe315Tyr) n.816T>A n.6229T>A c.2300T>A (p.Phe767Tyr) c.2207T>A (p.Phe736Tyr) c.2126T>A (p.Phe709Tyr) c.2102T>A (p.Phe701Tyr) c.2009T>A (p.Phe670Tyr) c.1235T>A (p.Phe412Tyr) c.1148T>A (p.Phe383Tyr) c.1061T>A (p.Phe354Tyr) c.771+4379T>A (n.771+4379T>A) n.868T>A | |
| 17 | g.46018657T>C | CA399983703 | MAPT | c.950T>C (p.Phe317Ser) c.863T>C (p.Phe288Ser) c.1037T>C (p.Phe346Ser) n.808T>C n.263T>C n.221T>C n.455T>C c.2213T>C (p.Phe738Ser) c.1922T>C (p.Phe641Ser) c.857T>C (p.Phe286Ser) c.986T>C (p.Phe329Ser) c.1988T>C (p.Phe663Ser) c.770T>C (p.Phe257Ser) c.2042T>C (p.Phe681Ser) c.944T>C (p.Phe315Ser) n.816T>C n.6229T>C c.2300T>C (p.Phe767Ser) c.2207T>C (p.Phe736Ser) c.2126T>C (p.Phe709Ser) c.2102T>C (p.Phe701Ser) c.2009T>C (p.Phe670Ser) c.1235T>C (p.Phe412Ser) c.1148T>C (p.Phe383Ser) c.1061T>C (p.Phe354Ser) c.771+4379T>C (n.771+4379T>C) n.868T>C | |
| 17 | g.46018657T>G | CA399983704 | MAPT | c.950T>G (p.Phe317Cys) c.863T>G (p.Phe288Cys) c.1037T>G (p.Phe346Cys) n.808T>G n.263T>G n.221T>G n.455T>G c.2213T>G (p.Phe738Cys) c.1922T>G (p.Phe641Cys) c.857T>G (p.Phe286Cys) c.986T>G (p.Phe329Cys) c.1988T>G (p.Phe663Cys) c.770T>G (p.Phe257Cys) c.2042T>G (p.Phe681Cys) c.944T>G (p.Phe315Cys) n.816T>G n.6229T>G c.2300T>G (p.Phe767Cys) c.2207T>G (p.Phe736Cys) c.2126T>G (p.Phe709Cys) c.2102T>G (p.Phe701Cys) c.2009T>G (p.Phe670Cys) c.1235T>G (p.Phe412Cys) c.1148T>G (p.Phe383Cys) c.1061T>G (p.Phe354Cys) c.771+4379T>G (n.771+4379T>G) n.868T>G | |
| 17 | g.46018658C>A | CA399983705 | MAPT | c.951C>A (p.Phe317Leu) c.864C>A (p.Phe288Leu) c.1038C>A (p.Phe346Leu) n.809C>A n.264C>A n.222C>A n.456C>A c.2214C>A (p.Phe738Leu) c.1923C>A (p.Phe641Leu) c.858C>A (p.Phe286Leu) c.987C>A (p.Phe329Leu) c.1989C>A (p.Phe663Leu) c.771C>A (p.Phe257Leu) c.2043C>A (p.Phe681Leu) c.945C>A (p.Phe315Leu) n.817C>A n.6230C>A c.2301C>A (p.Phe767Leu) c.2208C>A (p.Phe736Leu) c.2127C>A (p.Phe709Leu) c.2103C>A (p.Phe701Leu) c.2010C>A (p.Phe670Leu) c.1236C>A (p.Phe412Leu) c.1149C>A (p.Phe383Leu) c.1062C>A (p.Phe354Leu) c.771+4380C>A (n.771+4380C>A) n.869C>A | |
| 17 | g.46018658C>G | CA399983706 | MAPT | c.951C>G (p.Phe317Leu) c.864C>G (p.Phe288Leu) c.1038C>G (p.Phe346Leu) n.809C>G n.264C>G n.222C>G n.456C>G c.2214C>G (p.Phe738Leu) c.1923C>G (p.Phe641Leu) c.858C>G (p.Phe286Leu) c.987C>G (p.Phe329Leu) c.1989C>G (p.Phe663Leu) c.771C>G (p.Phe257Leu) c.2043C>G (p.Phe681Leu) c.945C>G (p.Phe315Leu) n.817C>G n.6230C>G c.2301C>G (p.Phe767Leu) c.2208C>G (p.Phe736Leu) c.2127C>G (p.Phe709Leu) c.2103C>G (p.Phe701Leu) c.2010C>G (p.Phe670Leu) c.1236C>G (p.Phe412Leu) c.1149C>G (p.Phe383Leu) c.1062C>G (p.Phe354Leu) c.771+4380C>G (n.771+4380C>G) n.869C>G | |
| 17 | g.46018658C>T | CA500371247 | MAPT | c.951C>T (p.Phe317=) c.864C>T (p.Phe288=) c.1038C>T (p.Phe346=) n.809C>T n.264C>T n.222C>T n.456C>T c.2214C>T (p.Phe738=) c.1923C>T (p.Phe641=) c.858C>T (p.Phe286=) c.987C>T (p.Phe329=) c.1989C>T (p.Phe663=) c.771C>T (p.Phe257=) c.2043C>T (p.Phe681=) c.945C>T (p.Phe315=) n.817C>T n.6230C>T c.2301C>T (p.Phe767=) c.2208C>T (p.Phe736=) c.2127C>T (p.Phe709=) c.2103C>T (p.Phe701=) c.2010C>T (p.Phe670=) c.1236C>T (p.Phe412=) c.1149C>T (p.Phe383=) c.1062C>T (p.Phe354=) c.771+4380C>T (n.771+4380C>T) n.869C>T | |
| 17 | g.46018659A>C | CA399983707 | MAPT | c.952A>C (p.Lys318Gln) c.865A>C (p.Lys289Gln) c.1039A>C (p.Lys347Gln) n.810A>C n.265A>C n.223A>C n.457A>C c.2215A>C (p.Lys739Gln) c.1924A>C (p.Lys642Gln) c.859A>C (p.Lys287Gln) c.988A>C (p.Lys330Gln) c.1990A>C (p.Lys664Gln) c.772A>C (p.Lys258Gln) c.2044A>C (p.Lys682Gln) c.946A>C (p.Lys316Gln) n.818A>C n.6231A>C c.2302A>C (p.Lys768Gln) c.2209A>C (p.Lys737Gln) c.2128A>C (p.Lys710Gln) c.2104A>C (p.Lys702Gln) c.2011A>C (p.Lys671Gln) c.1237A>C (p.Lys413Gln) c.1150A>C (p.Lys384Gln) c.1063A>C (p.Lys355Gln) c.771+4381A>C (n.771+4381A>C) n.870A>C | |
| 17 | g.46018659A>G | CA399983708 | MAPT | c.952A>G (p.Lys318Glu) c.865A>G (p.Lys289Glu) c.1039A>G (p.Lys347Glu) n.810A>G n.265A>G n.223A>G n.457A>G c.2215A>G (p.Lys739Glu) c.1924A>G (p.Lys642Glu) c.859A>G (p.Lys287Glu) c.988A>G (p.Lys330Glu) c.1990A>G (p.Lys664Glu) c.772A>G (p.Lys258Glu) c.2044A>G (p.Lys682Glu) c.946A>G (p.Lys316Glu) n.818A>G n.6231A>G c.2302A>G (p.Lys768Glu) c.2209A>G (p.Lys737Glu) c.2128A>G (p.Lys710Glu) c.2104A>G (p.Lys702Glu) c.2011A>G (p.Lys671Glu) c.1237A>G (p.Lys413Glu) c.1150A>G (p.Lys384Glu) c.1063A>G (p.Lys355Glu) c.771+4381A>G (n.771+4381A>G) n.870A>G | |
| 17 | g.46018659A>T | CA399983709 | MAPT | c.952A>T (p.Lys318Ter) c.865A>T (p.Lys289Ter) c.1039A>T (p.Lys347Ter) n.810A>T n.265A>T n.223A>T n.457A>T c.2215A>T (p.Lys739Ter) c.1924A>T (p.Lys642Ter) c.859A>T (p.Lys287Ter) c.988A>T (p.Lys330Ter) c.1990A>T (p.Lys664Ter) c.772A>T (p.Lys258Ter) c.2044A>T (p.Lys682Ter) c.946A>T (p.Lys316Ter) n.818A>T n.6231A>T c.2302A>T (p.Lys768Ter) c.2209A>T (p.Lys737Ter) c.2128A>T (p.Lys710Ter) c.2104A>T (p.Lys702Ter) c.2011A>T (p.Lys671Ter) c.1237A>T (p.Lys413Ter) c.1150A>T (p.Lys384Ter) c.1063A>T (p.Lys355Ter) c.771+4381A>T (n.771+4381A>T) n.870A>T | |
| 17 | g.46018660A= | CA2262104734 | MAPT | c.953A= (p.Lys318=) c.866A= (p.Lys289=) c.1040A= (p.Lys347=) n.811A= n.266A= n.224A= n.458A= c.2216A= (p.Lys739=) c.1925A= (p.Lys642=) c.860A= (p.Lys287=) c.989A= (p.Lys330=) c.1991A= (p.Lys664=) c.773A= (p.Lys258=) c.2045A= (p.Lys682=) c.947A= (p.Lys316=) n.819A= n.6232A= c.2303A= (p.Lys768=) c.2210A= (p.Lys737=) c.2129A= (p.Lys710=) c.2105A= (p.Lys702=) c.2012A= (p.Lys671=) c.1238A= (p.Lys413=) c.1151A= (p.Lys384=) c.1064A= (p.Lys355=) c.771+4382A= (n.771+4382A=) n.871A= | |
| 17 | g.46018660A>C | CA399983712 | MAPT | c.953A>C (p.Lys318Thr) c.866A>C (p.Lys289Thr) c.1040A>C (p.Lys347Thr) n.811A>C n.266A>C n.224A>C n.458A>C c.2216A>C (p.Lys739Thr) c.1925A>C (p.Lys642Thr) c.860A>C (p.Lys287Thr) c.989A>C (p.Lys330Thr) c.1991A>C (p.Lys664Thr) c.773A>C (p.Lys258Thr) c.2045A>C (p.Lys682Thr) c.947A>C (p.Lys316Thr) n.819A>C n.6232A>C c.2303A>C (p.Lys768Thr) c.2210A>C (p.Lys737Thr) c.2129A>C (p.Lys710Thr) c.2105A>C (p.Lys702Thr) c.2012A>C (p.Lys671Thr) c.1238A>C (p.Lys413Thr) c.1151A>C (p.Lys384Thr) c.1064A>C (p.Lys355Thr) c.771+4382A>C (n.771+4382A>C) n.871A>C |