MAPT mutations

MAPTMutationPredicted protein changeMutation alias
Exon 1NM_001123066.3:c.14G>A:p.(Arg5His)p.R5H (p.R5H)R5H
Exon 1NM_001123066.3:c.14G>T:p.(Arg5Leu)p.R5L (p.R5L)R5L
Exon 2NM_001123066.3:c.163G>A:p.(Gly55Arg)p.G55R (p.G55R)G55R
Exon 9NM_001123066.3:c.1775A>C:p.(Lys592Thr)p.K257T (p.K592T)K257T
Exon 9NM_001123066.3:c.1783A>G:p.(Ile595Val)p.I260V (p.I595V)I260V
Exon 9NM_001123066.3:c.1801C>G:p.(Leu601Val)p.L266V (p.L601V)L266V
Exon 9NM_001123066.3:c.1816G>C:p.(Gly606Arg)p.G271R (p.G606R)G271R
Exon 9NM_001123066.3:c.1820G>T:p.(Gly607Val)p.G272V (p.G607V)G272V
Exon 9NM_001123066.3:c.1822G>A:p.(Gly608Arg)p.G273R (p.G608R)G273R
Intron 9NM_001123066.3:c.1828-15T>CIVS9-15T>C
Intron 9NM_001123066.3:c.1828-11G>CIVS9-11G>C
Intron 9NM_001123066.3:c.1828-10G>CIVS9-10G>C
Intron 9NM_001123066.3:c.1828-10G>TIVS9-10G>T
Exon 10NM_001123066.3:c.1842T>G:p.(Asn614Lys)p.N279K (p.N614K)N279K
Exon 10NM_001123066.3:c.1846_1848delAAG:p.(Lys616del)p.deltaK280 (p.deltaK616)deltaK280
Exon 10NM_001123066.3:c.1857T>C:p.(=)p.L284 (p.L619)L284L
Exon 10NM_001123066.3:c.1856T>G:p.(Leu619Arg)p.L284R (p.L619R)L284R
Exon 10NM_001123066.3:c.1858A>C:p.(Ser620Arg)p.S285R (p.S620R)S285R
Exon 10NM_001123066.3:c.1876T>C:p.(Cys626Arg)p.C291R (p.C626R)C291R
Exon 10NM_001123066.3:c.1891A>C:p.(Asn631His)p.N296H (p.N631H)N296H
Exon 10NM_001123066.3:c.1892_1894delATA:p.(Asn631del)p.N296del (p.N631del)delN296
Exon 10NM_001123066.3:c.1893T>C:p.(=)p.N296 (p.N631)N296N
Exon 10NM_001123066.3:c.1897A>G:p.(Lys633Glu)p.K298E (p.K633E)K298E
Exon 10NM_001123066.3:c.1906C>A:p.(Pro636Thr)p.P301T (p.P636T)P301T
Exon 10NM_001123066.3:c.1906C>T:p.(Pro636Ser)p.P301S (p.P636S)P301S
Exon 10NM_001123066.3:c.1907C>T:p.(Pro636Leu)p.P301L (p.P636L)P301L
Exon 10NM_001123066.3:c.1913G>T:p.(Gly638Val)p.G303V (p.G638V)G303V
Exon 10NM_001123066.3:c.1915G>A:p.(Gly639Ser)p.G304S (p.G639S)G304S
Exon 10NM_001123066.3:c.1919G>A:p.(Ser640Asn)p.S305N (p.S640N)S305N
Exon 10NM_001123066.3:c.1919G>T:p.(Ser640Ile)p.S305I (p.S640I)S305I
Exon 10NM_001123066.3:c.1920T>C:p.(=)p.S305 (p.S640)S305S
Intron 10NM_001123066.3:c.1920+3G>AIVS10+3G>A
Intron 10NM_001123066.3:c.1920+4A>CIVS10+4A>C
Intron 10NM_001123066.3:c.1920+11T>CIVS10+11T>C
Intron 10NM_001123066.3:c.1920+12C>TIVS10+12C>T
Intron 10NM_001123066.3:c.1920+12C>AIVS10+12C>A
Intron 10NM_001123066.3:c.1920+13A>GIVS10+13A>G
Intron 10NM_001123066.3:c.1920+14C>TIVS10+14C>T
Intron 10NM_001123066.3:c.1920+15A>CIVS10+15A>C
Intron 10NM_001123066.3:c.1920+16C>TIVS10+16C>T
Intron 10NM_001123066.3:c.1920+19C>GIVS10+19C>G
Exon 11NM_001123066.3:c.1949T>G:p.(Leu650Arg)p.L315R (p.L650R)L315R
Exon 11NM_001123066.3:c.1950G>A:p.(=)p.L315 (p.L650)L315L
Exon 11NM_001123066.3:c.1955A>T:p.(Lys652Met)p.K317M (p.K652M)K317M
Exon 11NM_001123066.3:c.1964C>T:p.(Ser655Phe)p.S320F (p.S655F)S320F
Exon 11NM_001123066.3:c.1999C>T:p.(Pro667Ser)p.P332S (p.P667S)P332S
Exon 12NM_001123066.3:c.2008G>A:p.(Gly670Ser)p.G335S (p.G670S)G335S
Exon 12NM_001123066.3:c.2009G>T:p.(Gly670Val)p.G335V (p.G670V)G335V
Exon 12NM_001123066.3:c.2012A>G:p.(Gln671Arg)p.Q336R (p.Q671R)Q336R
Exon 12NM_001123066.3:c.2013G>C:p.(Gln671His)p.Q336H (p.Q671H)Q336H
Exon 12NM_001123066.3:c.2014G>A:p.(Val672Met)p.V337M (p.V672M)V337M
Exon 12NM_001123066.3:c.2030A>T:p.(Glu677Val)p.E342V (p.E677V)E342V
Exon 12NM_001123066.3:c.2057A>G:p.(Gln686Arg)p.Q351R (p.Q686R)Q351R
Exon 12NM_001123066.3:c.2060C>T:p.(Ser687Leu)p.S352L (p.S687L)S352L
Exon 12NM_001123066.3:c.2071T>A:p.(Ser691Thr)p.S356T (p.S691T)S356T
Exon 12NM_001123066.3:c.2092G>A:p.(Val698Ile)p.V363I (p.V698I)V363I
Exon 12NM_001123066.3:c.2093T>C:p.(Val698Ala)p.V363A (p.V698A)V363A
Exon 12NM_001123066.3:c.2095C>T:p.(Pro699Ser)p.P364S (p.P699S)P364S
Exon 12NM_001123066.3:c.2101G>A:p.(Gly701Arg)p.G366R (p.G701R)G366R
Exon 12NM_001123066.3:c.2111A>T:p.(Lys704Ile)p.K369I (p.K704I)K369I
Exon 13NM_001123066.3:c.2120A>G:p.(Glu707Gly)p.E372G (p.E707G)E372G
Exon 13NM_001123066.3:c.2170G>A:p.(Gly724Arg)p.G389R (p.G724R)G389R (2170G>A)
Exon 13NM_001123066.3:c.2170G>C:p.(Gly724Arg)p.G389R (p.G724R)G389R (2170G>C)
Exon 13NM_001123066.3:c.2221C>T:p.(Arg741Trp)p.R406W (p.R741W)R406W
Exon 13NM_001123066.3:c.2233A>C:p.(Asn745His)p.N410H (p.N745H)N410H
Exon 13NM_001123066.3:c.2275C>A:p.(Gln759Lys)p.Q424K (p.Q759K)Q424K
Exon 13NM_001123066.3:c.2285C>T:p.(Thr762Met)p.T427M (p.T762M)T427M