Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178591104delCA16610432TTN,TTN-AS1c.55698del (p.Tyr18566Ter)
c.60621del (p.Tyr20207Ter)
c.33426del (p.Tyr11142Ter)
c.52917del (p.Tyr17639Ter)
c.33801del (p.Tyr11267Ter)
c.34002del (p.Tyr11334Ter)
n.597-6492del
n.3189-35del
c.59718del (p.Tyr19906Ter)
c.33612del (p.Tyr11204Ter)
c.33471del (p.Tyr11157Ter)
c.59514del (p.Tyr19838Ter)
c.54912del (p.Tyr18304Ter)
c.54909del (p.Tyr18303Ter)
c.51951del (p.Tyr17317Ter)
c.33567del (p.Tyr11189Ter)
c.55062del (p.Tyr18354Ter)
c.55059del (p.Tyr18353Ter)
c.54492del (p.Tyr18164Ter)
c.51834del (p.Tyr17278Ter)
c.51753del (p.Tyr17251Ter)
c.33516del (p.Tyr11172Ter)
c.23370del (p.Tyr7790Ter)
ClinVar dbSNP
2g.178591104A>CCA349481116TTN,TTN-AS1c.55698T>G (p.Tyr18566Ter)
c.60621T>G (p.Tyr20207Ter)
c.33426T>G (p.Tyr11142Ter)
c.52917T>G (p.Tyr17639Ter)
c.33801T>G (p.Tyr11267Ter)
c.34002T>G (p.Tyr11334Ter)
n.597-6492A>C
n.3189-35A>C
c.59718T>G (p.Tyr19906Ter)
c.33612T>G (p.Tyr11204Ter)
c.33471T>G (p.Tyr11157Ter)
c.59514T>G (p.Tyr19838Ter)
c.54912T>G (p.Tyr18304Ter)
c.54909T>G (p.Tyr18303Ter)
c.51951T>G (p.Tyr17317Ter)
c.33567T>G (p.Tyr11189Ter)
c.55062T>G (p.Tyr18354Ter)
c.55059T>G (p.Tyr18353Ter)
c.54492T>G (p.Tyr18164Ter)
c.51834T>G (p.Tyr17278Ter)
c.51753T>G (p.Tyr17251Ter)
c.33516T>G (p.Tyr11172Ter)
c.23370T>G (p.Tyr7790Ter)
2g.178591104A>GCA308959TTN,TTN-AS1c.55698T>C (p.Tyr18566=)
c.60621T>C (p.Tyr20207=)
c.33426T>C (p.Tyr11142=)
c.52917T>C (p.Tyr17639=)
c.33801T>C (p.Tyr11267=)
c.34002T>C (p.Tyr11334=)
n.597-6492A>G
n.3189-35A>G
c.59718T>C (p.Tyr19906=)
c.33612T>C (p.Tyr11204=)
c.33471T>C (p.Tyr11157=)
c.59514T>C (p.Tyr19838=)
c.54912T>C (p.Tyr18304=)
c.54909T>C (p.Tyr18303=)
c.51951T>C (p.Tyr17317=)
c.33567T>C (p.Tyr11189=)
c.55062T>C (p.Tyr18354=)
c.55059T>C (p.Tyr18353=)
c.54492T>C (p.Tyr18164=)
c.51834T>C (p.Tyr17278=)
c.51753T>C (p.Tyr17251=)
c.33516T>C (p.Tyr11172=)
c.23370T>C (p.Tyr7790=)
ClinVar dbSNP ExAC gnomAD
2g.178591104A>TCA349481114TTN,TTN-AS1c.55698T>A (p.Tyr18566Ter)
c.60621T>A (p.Tyr20207Ter)
c.33426T>A (p.Tyr11142Ter)
c.52917T>A (p.Tyr17639Ter)
c.33801T>A (p.Tyr11267Ter)
c.34002T>A (p.Tyr11334Ter)
n.597-6492A>T
n.3189-35A>T
c.59718T>A (p.Tyr19906Ter)
c.33612T>A (p.Tyr11204Ter)
c.33471T>A (p.Tyr11157Ter)
c.59514T>A (p.Tyr19838Ter)
c.54912T>A (p.Tyr18304Ter)
c.54909T>A (p.Tyr18303Ter)
c.51951T>A (p.Tyr17317Ter)
c.33567T>A (p.Tyr11189Ter)
c.55062T>A (p.Tyr18354Ter)
c.55059T>A (p.Tyr18353Ter)
c.54492T>A (p.Tyr18164Ter)
c.51834T>A (p.Tyr17278Ter)
c.51753T>A (p.Tyr17251Ter)
c.33516T>A (p.Tyr11172Ter)
c.23370T>A (p.Tyr7790Ter)
2g.178591105T>ACA349481122TTN,TTN-AS1c.55697A>T (p.Tyr18566Phe)
c.60620A>T (p.Tyr20207Phe)
c.33425A>T (p.Tyr11142Phe)
c.52916A>T (p.Tyr17639Phe)
c.33800A>T (p.Tyr11267Phe)
c.34001A>T (p.Tyr11334Phe)
n.597-6491T>A
n.3189-34T>A
c.59717A>T (p.Tyr19906Phe)
c.33611A>T (p.Tyr11204Phe)
c.33470A>T (p.Tyr11157Phe)
c.59513A>T (p.Tyr19838Phe)
c.54911A>T (p.Tyr18304Phe)
c.54908A>T (p.Tyr18303Phe)
c.51950A>T (p.Tyr17317Phe)
c.33566A>T (p.Tyr11189Phe)
c.55061A>T (p.Tyr18354Phe)
c.55058A>T (p.Tyr18353Phe)
c.54491A>T (p.Tyr18164Phe)
c.51833A>T (p.Tyr17278Phe)
c.51752A>T (p.Tyr17251Phe)
c.33515A>T (p.Tyr11172Phe)
c.23369A>T (p.Tyr7790Phe)
2g.178591105T>CCA349481133TTN,TTN-AS1c.55697A>G (p.Tyr18566Cys)
c.60620A>G (p.Tyr20207Cys)
c.33425A>G (p.Tyr11142Cys)
c.52916A>G (p.Tyr17639Cys)
c.33800A>G (p.Tyr11267Cys)
c.34001A>G (p.Tyr11334Cys)
n.597-6491T>C
n.3189-34T>C
c.59717A>G (p.Tyr19906Cys)
c.33611A>G (p.Tyr11204Cys)
c.33470A>G (p.Tyr11157Cys)
c.59513A>G (p.Tyr19838Cys)
c.54911A>G (p.Tyr18304Cys)
c.54908A>G (p.Tyr18303Cys)
c.51950A>G (p.Tyr17317Cys)
c.33566A>G (p.Tyr11189Cys)
c.55061A>G (p.Tyr18354Cys)
c.55058A>G (p.Tyr18353Cys)
c.54491A>G (p.Tyr18164Cys)
c.51833A>G (p.Tyr17278Cys)
c.51752A>G (p.Tyr17251Cys)
c.33515A>G (p.Tyr11172Cys)
c.23369A>G (p.Tyr7790Cys)
gnomAD
2g.178591105T>GCA349481135TTN,TTN-AS1c.55697A>C (p.Tyr18566Ser)
c.60620A>C (p.Tyr20207Ser)
c.33425A>C (p.Tyr11142Ser)
c.52916A>C (p.Tyr17639Ser)
c.33800A>C (p.Tyr11267Ser)
c.34001A>C (p.Tyr11334Ser)
n.597-6491T>G
n.3189-34T>G
c.59717A>C (p.Tyr19906Ser)
c.33611A>C (p.Tyr11204Ser)
c.33470A>C (p.Tyr11157Ser)
c.59513A>C (p.Tyr19838Ser)
c.54911A>C (p.Tyr18304Ser)
c.54908A>C (p.Tyr18303Ser)
c.51950A>C (p.Tyr17317Ser)
c.33566A>C (p.Tyr11189Ser)
c.55061A>C (p.Tyr18354Ser)
c.55058A>C (p.Tyr18353Ser)
c.54491A>C (p.Tyr18164Ser)
c.51833A>C (p.Tyr17278Ser)
c.51752A>C (p.Tyr17251Ser)
c.33515A>C (p.Tyr11172Ser)
c.23369A>C (p.Tyr7790Ser)
2g.178591106A>CCA349481137TTN,TTN-AS1c.55696T>G (p.Tyr18566Asp)
c.60619T>G (p.Tyr20207Asp)
c.33424T>G (p.Tyr11142Asp)
c.52915T>G (p.Tyr17639Asp)
c.33799T>G (p.Tyr11267Asp)
c.34000T>G (p.Tyr11334Asp)
n.597-6490A>C
n.3189-33A>C
c.59716T>G (p.Tyr19906Asp)
c.33610T>G (p.Tyr11204Asp)
c.33469T>G (p.Tyr11157Asp)
c.59512T>G (p.Tyr19838Asp)
c.54910T>G (p.Tyr18304Asp)
c.54907T>G (p.Tyr18303Asp)
c.51949T>G (p.Tyr17317Asp)
c.33565T>G (p.Tyr11189Asp)
c.55060T>G (p.Tyr18354Asp)
c.55057T>G (p.Tyr18353Asp)
c.54490T>G (p.Tyr18164Asp)
c.51832T>G (p.Tyr17278Asp)
c.51751T>G (p.Tyr17251Asp)
c.33514T>G (p.Tyr11172Asp)
c.23368T>G (p.Tyr7790Asp)
2g.178591106A>GCA349481138TTN,TTN-AS1c.55696T>C (p.Tyr18566His)
c.60619T>C (p.Tyr20207His)
c.33424T>C (p.Tyr11142His)
c.52915T>C (p.Tyr17639His)
c.33799T>C (p.Tyr11267His)
c.34000T>C (p.Tyr11334His)
n.597-6490A>G
n.3189-33A>G
c.59716T>C (p.Tyr19906His)
c.33610T>C (p.Tyr11204His)
c.33469T>C (p.Tyr11157His)
c.59512T>C (p.Tyr19838His)
c.54910T>C (p.Tyr18304His)
c.54907T>C (p.Tyr18303His)
c.51949T>C (p.Tyr17317His)
c.33565T>C (p.Tyr11189His)
c.55060T>C (p.Tyr18354His)
c.55057T>C (p.Tyr18353His)
c.54490T>C (p.Tyr18164His)
c.51832T>C (p.Tyr17278His)
c.51751T>C (p.Tyr17251His)
c.33514T>C (p.Tyr11172His)
c.23368T>C (p.Tyr7790His)
2g.178591106A>TCA349481140TTN,TTN-AS1c.55696T>A (p.Tyr18566Asn)
c.60619T>A (p.Tyr20207Asn)
c.33424T>A (p.Tyr11142Asn)
c.52915T>A (p.Tyr17639Asn)
c.33799T>A (p.Tyr11267Asn)
c.34000T>A (p.Tyr11334Asn)
n.597-6490A>T
n.3189-33A>T
c.59716T>A (p.Tyr19906Asn)
c.33610T>A (p.Tyr11204Asn)
c.33469T>A (p.Tyr11157Asn)
c.59512T>A (p.Tyr19838Asn)
c.54910T>A (p.Tyr18304Asn)
c.54907T>A (p.Tyr18303Asn)
c.51949T>A (p.Tyr17317Asn)
c.33565T>A (p.Tyr11189Asn)
c.55060T>A (p.Tyr18354Asn)
c.55057T>A (p.Tyr18353Asn)
c.54490T>A (p.Tyr18164Asn)
c.51832T>A (p.Tyr17278Asn)
c.51751T>A (p.Tyr17251Asn)
c.33514T>A (p.Tyr11172Asn)
c.23368T>A (p.Tyr7790Asn)
2g.178591107A>CCA349483509TTN,TTN-AS1c.55695T>G (p.Asn18565Lys)
c.60618T>G (p.Asn20206Lys)
c.33423T>G (p.Asn11141Lys)
c.52914T>G (p.Asn17638Lys)
c.33798T>G (p.Asn11266Lys)
c.33999T>G (p.Asn11333Lys)
n.597-6489A>C
n.3189-32A>C
c.59715T>G (p.Asn19905Lys)
c.33609T>G (p.Asn11203Lys)
c.33468T>G (p.Asn11156Lys)
c.59511T>G (p.Asn19837Lys)
c.54909T>G (p.Asn18303Lys)
c.54906T>G (p.Asn18302Lys)
c.51948T>G (p.Asn17316Lys)
c.33564T>G (p.Asn11188Lys)
c.55059T>G (p.Asn18353Lys)
c.55056T>G (p.Asn18352Lys)
c.54489T>G (p.Asn18163Lys)
c.51831T>G (p.Asn17277Lys)
c.51750T>G (p.Asn17250Lys)
c.33513T>G (p.Asn11171Lys)
c.23367T>G (p.Asn7789Lys)
2g.178591107A>GCA430266483TTN,TTN-AS1c.55695T>C (p.Asn18565=)
c.60618T>C (p.Asn20206=)
c.33423T>C (p.Asn11141=)
c.52914T>C (p.Asn17638=)
c.33798T>C (p.Asn11266=)
c.33999T>C (p.Asn11333=)
n.597-6489A>G
n.3189-32A>G
c.59715T>C (p.Asn19905=)
c.33609T>C (p.Asn11203=)
c.33468T>C (p.Asn11156=)
c.59511T>C (p.Asn19837=)
c.54909T>C (p.Asn18303=)
c.54906T>C (p.Asn18302=)
c.51948T>C (p.Asn17316=)
c.33564T>C (p.Asn11188=)
c.55059T>C (p.Asn18353=)
c.55056T>C (p.Asn18352=)
c.54489T>C (p.Asn18163=)
c.51831T>C (p.Asn17277=)
c.51750T>C (p.Asn17250=)
c.33513T>C (p.Asn11171=)
c.23367T>C (p.Asn7789=)
2g.178591107A>TCA349483511TTN,TTN-AS1c.55695T>A (p.Asn18565Lys)
c.60618T>A (p.Asn20206Lys)
c.33423T>A (p.Asn11141Lys)
c.52914T>A (p.Asn17638Lys)
c.33798T>A (p.Asn11266Lys)
c.33999T>A (p.Asn11333Lys)
n.597-6489A>T
n.3189-32A>T
c.59715T>A (p.Asn19905Lys)
c.33609T>A (p.Asn11203Lys)
c.33468T>A (p.Asn11156Lys)
c.59511T>A (p.Asn19837Lys)
c.54909T>A (p.Asn18303Lys)
c.54906T>A (p.Asn18302Lys)
c.51948T>A (p.Asn17316Lys)
c.33564T>A (p.Asn11188Lys)
c.55059T>A (p.Asn18353Lys)
c.55056T>A (p.Asn18352Lys)
c.54489T>A (p.Asn18163Lys)
c.51831T>A (p.Asn17277Lys)
c.51750T>A (p.Asn17250Lys)
c.33513T>A (p.Asn11171Lys)
c.23367T>A (p.Asn7789Lys)
2g.178591108T>ACA349483514TTN,TTN-AS1c.55694A>T (p.Asn18565Ile)
c.60617A>T (p.Asn20206Ile)
c.33422A>T (p.Asn11141Ile)
c.52913A>T (p.Asn17638Ile)
c.33797A>T (p.Asn11266Ile)
c.33998A>T (p.Asn11333Ile)
n.597-6488T>A
n.3189-31T>A
c.59714A>T (p.Asn19905Ile)
c.33608A>T (p.Asn11203Ile)
c.33467A>T (p.Asn11156Ile)
c.59510A>T (p.Asn19837Ile)
c.54908A>T (p.Asn18303Ile)
c.54905A>T (p.Asn18302Ile)
c.51947A>T (p.Asn17316Ile)
c.33563A>T (p.Asn11188Ile)
c.55058A>T (p.Asn18353Ile)
c.55055A>T (p.Asn18352Ile)
c.54488A>T (p.Asn18163Ile)
c.51830A>T (p.Asn17277Ile)
c.51749A>T (p.Asn17250Ile)
c.33512A>T (p.Asn11171Ile)
c.23366A>T (p.Asn7789Ile)
2g.178591108T>CCA349483518TTN,TTN-AS1c.55694A>G (p.Asn18565Ser)
c.60617A>G (p.Asn20206Ser)
c.33422A>G (p.Asn11141Ser)
c.52913A>G (p.Asn17638Ser)
c.33797A>G (p.Asn11266Ser)
c.33998A>G (p.Asn11333Ser)
n.597-6488T>C
n.3189-31T>C
c.59714A>G (p.Asn19905Ser)
c.33608A>G (p.Asn11203Ser)
c.33467A>G (p.Asn11156Ser)
c.59510A>G (p.Asn19837Ser)
c.54908A>G (p.Asn18303Ser)
c.54905A>G (p.Asn18302Ser)
c.51947A>G (p.Asn17316Ser)
c.33563A>G (p.Asn11188Ser)
c.55058A>G (p.Asn18353Ser)
c.55055A>G (p.Asn18352Ser)
c.54488A>G (p.Asn18163Ser)
c.51830A>G (p.Asn17277Ser)
c.51749A>G (p.Asn17250Ser)
c.33512A>G (p.Asn11171Ser)
c.23366A>G (p.Asn7789Ser)
2g.178591108T>GCA349483525TTN,TTN-AS1c.55694A>C (p.Asn18565Thr)
c.60617A>C (p.Asn20206Thr)
c.33422A>C (p.Asn11141Thr)
c.52913A>C (p.Asn17638Thr)
c.33797A>C (p.Asn11266Thr)
c.33998A>C (p.Asn11333Thr)
n.597-6488T>G
n.3189-31T>G
c.59714A>C (p.Asn19905Thr)
c.33608A>C (p.Asn11203Thr)
c.33467A>C (p.Asn11156Thr)
c.59510A>C (p.Asn19837Thr)
c.54908A>C (p.Asn18303Thr)
c.54905A>C (p.Asn18302Thr)
c.51947A>C (p.Asn17316Thr)
c.33563A>C (p.Asn11188Thr)
c.55058A>C (p.Asn18353Thr)
c.55055A>C (p.Asn18352Thr)
c.54488A>C (p.Asn18163Thr)
c.51830A>C (p.Asn17277Thr)
c.51749A>C (p.Asn17250Thr)
c.33512A>C (p.Asn11171Thr)
c.23366A>C (p.Asn7789Thr)
2g.178591109T>ACA349483528TTN,TTN-AS1c.55693A>T (p.Asn18565Tyr)
c.60616A>T (p.Asn20206Tyr)
c.33421A>T (p.Asn11141Tyr)
c.52912A>T (p.Asn17638Tyr)
c.33796A>T (p.Asn11266Tyr)
c.33997A>T (p.Asn11333Tyr)
n.597-6487T>A
n.3189-30T>A
c.59713A>T (p.Asn19905Tyr)
c.33607A>T (p.Asn11203Tyr)
c.33466A>T (p.Asn11156Tyr)
c.59509A>T (p.Asn19837Tyr)
c.54907A>T (p.Asn18303Tyr)
c.54904A>T (p.Asn18302Tyr)
c.51946A>T (p.Asn17316Tyr)
c.33562A>T (p.Asn11188Tyr)
c.55057A>T (p.Asn18353Tyr)
c.55054A>T (p.Asn18352Tyr)
c.54487A>T (p.Asn18163Tyr)
c.51829A>T (p.Asn17277Tyr)
c.51748A>T (p.Asn17250Tyr)
c.33511A>T (p.Asn11171Tyr)
c.23365A>T (p.Asn7789Tyr)
2g.178591109T>CCA349483542TTN,TTN-AS1c.55693A>G (p.Asn18565Asp)
c.60616A>G (p.Asn20206Asp)
c.33421A>G (p.Asn11141Asp)
c.52912A>G (p.Asn17638Asp)
c.33796A>G (p.Asn11266Asp)
c.33997A>G (p.Asn11333Asp)
n.597-6487T>C
n.3189-30T>C
c.59713A>G (p.Asn19905Asp)
c.33607A>G (p.Asn11203Asp)
c.33466A>G (p.Asn11156Asp)
c.59509A>G (p.Asn19837Asp)
c.54907A>G (p.Asn18303Asp)
c.54904A>G (p.Asn18302Asp)
c.51946A>G (p.Asn17316Asp)
c.33562A>G (p.Asn11188Asp)
c.55057A>G (p.Asn18353Asp)
c.55054A>G (p.Asn18352Asp)
c.54487A>G (p.Asn18163Asp)
c.51829A>G (p.Asn17277Asp)
c.51748A>G (p.Asn17250Asp)
c.33511A>G (p.Asn11171Asp)
c.23365A>G (p.Asn7789Asp)
2g.178591109T>GCA349483545TTN,TTN-AS1c.55693A>C (p.Asn18565His)
c.60616A>C (p.Asn20206His)
c.33421A>C (p.Asn11141His)
c.52912A>C (p.Asn17638His)
c.33796A>C (p.Asn11266His)
c.33997A>C (p.Asn11333His)
n.597-6487T>G
n.3189-30T>G
c.59713A>C (p.Asn19905His)
c.33607A>C (p.Asn11203His)
c.33466A>C (p.Asn11156His)
c.59509A>C (p.Asn19837His)
c.54907A>C (p.Asn18303His)
c.54904A>C (p.Asn18302His)
c.51946A>C (p.Asn17316His)
c.33562A>C (p.Asn11188His)
c.55057A>C (p.Asn18353His)
c.55054A>C (p.Asn18352His)
c.54487A>C (p.Asn18163His)
c.51829A>C (p.Asn17277His)
c.51748A>C (p.Asn17250His)
c.33511A>C (p.Asn11171His)
c.23365A>C (p.Asn7789His)
2g.178591110T>ACA430266484TTN,TTN-AS1c.55692A>T (p.Ile18564=)
c.60615A>T (p.Ile20205=)
c.33420A>T (p.Ile11140=)
c.52911A>T (p.Ile17637=)
c.33795A>T (p.Ile11265=)
c.33996A>T (p.Ile11332=)
n.597-6486T>A
n.3189-29T>A
c.59712A>T (p.Ile19904=)
c.33606A>T (p.Ile11202=)
c.33465A>T (p.Ile11155=)
c.59508A>T (p.Ile19836=)
c.54906A>T (p.Ile18302=)
c.54903A>T (p.Ile18301=)
c.51945A>T (p.Ile17315=)
c.33561A>T (p.Ile11187=)
c.55056A>T (p.Ile18352=)
c.55053A>T (p.Ile18351=)
c.54486A>T (p.Ile18162=)
c.51828A>T (p.Ile17276=)
c.51747A>T (p.Ile17249=)
c.33510A>T (p.Ile11170=)
c.23364A>T (p.Ile7788=)
2g.178591110T>CCA349483550TTN,TTN-AS1c.55692A>G (p.Ile18564Met)
c.60615A>G (p.Ile20205Met)
c.33420A>G (p.Ile11140Met)
c.52911A>G (p.Ile17637Met)
c.33795A>G (p.Ile11265Met)
c.33996A>G (p.Ile11332Met)
n.597-6486T>C
n.3189-29T>C
c.59712A>G (p.Ile19904Met)
c.33606A>G (p.Ile11202Met)
c.33465A>G (p.Ile11155Met)
c.59508A>G (p.Ile19836Met)
c.54906A>G (p.Ile18302Met)
c.54903A>G (p.Ile18301Met)
c.51945A>G (p.Ile17315Met)
c.33561A>G (p.Ile11187Met)
c.55056A>G (p.Ile18352Met)
c.55053A>G (p.Ile18351Met)
c.54486A>G (p.Ile18162Met)
c.51828A>G (p.Ile17276Met)
c.51747A>G (p.Ile17249Met)
c.33510A>G (p.Ile11170Met)
c.23364A>G (p.Ile7788Met)
2g.178591110T>GCA1992468TTN,TTN-AS1c.55692A>C (p.Ile18564=)
c.60615A>C (p.Ile20205=)
c.33420A>C (p.Ile11140=)
c.52911A>C (p.Ile17637=)
c.33795A>C (p.Ile11265=)
c.33996A>C (p.Ile11332=)
n.597-6486T>G
n.3189-29T>G
c.59712A>C (p.Ile19904=)
c.33606A>C (p.Ile11202=)
c.33465A>C (p.Ile11155=)
c.59508A>C (p.Ile19836=)
c.54906A>C (p.Ile18302=)
c.54903A>C (p.Ile18301=)
c.51945A>C (p.Ile17315=)
c.33561A>C (p.Ile11187=)
c.55056A>C (p.Ile18352=)
c.55053A>C (p.Ile18351=)
c.54486A>C (p.Ile18162=)
c.51828A>C (p.Ile17276=)
c.51747A>C (p.Ile17249=)
c.33510A>C (p.Ile11170=)
c.23364A>C (p.Ile7788=)
dbSNP ExAC gnomAD
2g.178591111A>CCA349483555TTN,TTN-AS1c.55691T>G (p.Ile18564Arg)
c.60614T>G (p.Ile20205Arg)
c.33419T>G (p.Ile11140Arg)
c.52910T>G (p.Ile17637Arg)
c.33794T>G (p.Ile11265Arg)
c.33995T>G (p.Ile11332Arg)
n.597-6485A>C
n.3189-28A>C
c.59711T>G (p.Ile19904Arg)
c.33605T>G (p.Ile11202Arg)
c.33464T>G (p.Ile11155Arg)
c.59507T>G (p.Ile19836Arg)
c.54905T>G (p.Ile18302Arg)
c.54902T>G (p.Ile18301Arg)
c.51944T>G (p.Ile17315Arg)
c.33560T>G (p.Ile11187Arg)
c.55055T>G (p.Ile18352Arg)
c.55052T>G (p.Ile18351Arg)
c.54485T>G (p.Ile18162Arg)
c.51827T>G (p.Ile17276Arg)
c.51746T>G (p.Ile17249Arg)
c.33509T>G (p.Ile11170Arg)
c.23363T>G (p.Ile7788Arg)
2g.178591111A>GCA349483561TTN,TTN-AS1c.55691T>C (p.Ile18564Thr)
c.60614T>C (p.Ile20205Thr)
c.33419T>C (p.Ile11140Thr)
c.52910T>C (p.Ile17637Thr)
c.33794T>C (p.Ile11265Thr)
c.33995T>C (p.Ile11332Thr)
n.597-6485A>G
n.3189-28A>G
c.59711T>C (p.Ile19904Thr)
c.33605T>C (p.Ile11202Thr)
c.33464T>C (p.Ile11155Thr)
c.59507T>C (p.Ile19836Thr)
c.54905T>C (p.Ile18302Thr)
c.54902T>C (p.Ile18301Thr)
c.51944T>C (p.Ile17315Thr)
c.33560T>C (p.Ile11187Thr)
c.55055T>C (p.Ile18352Thr)
c.55052T>C (p.Ile18351Thr)
c.54485T>C (p.Ile18162Thr)
c.51827T>C (p.Ile17276Thr)
c.51746T>C (p.Ile17249Thr)
c.33509T>C (p.Ile11170Thr)
c.23363T>C (p.Ile7788Thr)
2g.178591111A>TCA349483568TTN,TTN-AS1c.55691T>A (p.Ile18564Lys)
c.60614T>A (p.Ile20205Lys)
c.33419T>A (p.Ile11140Lys)
c.52910T>A (p.Ile17637Lys)
c.33794T>A (p.Ile11265Lys)
c.33995T>A (p.Ile11332Lys)
n.597-6485A>T
n.3189-28A>T
c.59711T>A (p.Ile19904Lys)
c.33605T>A (p.Ile11202Lys)
c.33464T>A (p.Ile11155Lys)
c.59507T>A (p.Ile19836Lys)
c.54905T>A (p.Ile18302Lys)
c.54902T>A (p.Ile18301Lys)
c.51944T>A (p.Ile17315Lys)
c.33560T>A (p.Ile11187Lys)
c.55055T>A (p.Ile18352Lys)
c.55052T>A (p.Ile18351Lys)
c.54485T>A (p.Ile18162Lys)
c.51827T>A (p.Ile17276Lys)
c.51746T>A (p.Ile17249Lys)
c.33509T>A (p.Ile11170Lys)
c.23363T>A (p.Ile7788Lys)
2g.178591112T>ACA349483572TTN,TTN-AS1c.55690A>T (p.Ile18564Leu)
c.60613A>T (p.Ile20205Leu)
c.33418A>T (p.Ile11140Leu)
c.52909A>T (p.Ile17637Leu)
c.33793A>T (p.Ile11265Leu)
c.33994A>T (p.Ile11332Leu)
n.597-6484T>A
n.3189-27T>A
c.59710A>T (p.Ile19904Leu)
c.33604A>T (p.Ile11202Leu)
c.33463A>T (p.Ile11155Leu)
c.59506A>T (p.Ile19836Leu)
c.54904A>T (p.Ile18302Leu)
c.54901A>T (p.Ile18301Leu)
c.51943A>T (p.Ile17315Leu)
c.33559A>T (p.Ile11187Leu)
c.55054A>T (p.Ile18352Leu)
c.55051A>T (p.Ile18351Leu)
c.54484A>T (p.Ile18162Leu)
c.51826A>T (p.Ile17276Leu)
c.51745A>T (p.Ile17249Leu)
c.33508A>T (p.Ile11170Leu)
c.23362A>T (p.Ile7788Leu)
2g.178591112T>CCA349483574TTN,TTN-AS1c.55690A>G (p.Ile18564Val)
c.60613A>G (p.Ile20205Val)
c.33418A>G (p.Ile11140Val)
c.52909A>G (p.Ile17637Val)
c.33793A>G (p.Ile11265Val)
c.33994A>G (p.Ile11332Val)
n.597-6484T>C
n.3189-27T>C
c.59710A>G (p.Ile19904Val)
c.33604A>G (p.Ile11202Val)
c.33463A>G (p.Ile11155Val)
c.59506A>G (p.Ile19836Val)
c.54904A>G (p.Ile18302Val)
c.54901A>G (p.Ile18301Val)
c.51943A>G (p.Ile17315Val)
c.33559A>G (p.Ile11187Val)
c.55054A>G (p.Ile18352Val)
c.55051A>G (p.Ile18351Val)
c.54484A>G (p.Ile18162Val)
c.51826A>G (p.Ile17276Val)
c.51745A>G (p.Ile17249Val)
c.33508A>G (p.Ile11170Val)
c.23362A>G (p.Ile7788Val)
gnomAD
2g.178591112T>GCA349483576TTN,TTN-AS1c.55690A>C (p.Ile18564Leu)
c.60613A>C (p.Ile20205Leu)
c.33418A>C (p.Ile11140Leu)
c.52909A>C (p.Ile17637Leu)
c.33793A>C (p.Ile11265Leu)
c.33994A>C (p.Ile11332Leu)
n.597-6484T>G
n.3189-27T>G
c.59710A>C (p.Ile19904Leu)
c.33604A>C (p.Ile11202Leu)
c.33463A>C (p.Ile11155Leu)
c.59506A>C (p.Ile19836Leu)
c.54904A>C (p.Ile18302Leu)
c.54901A>C (p.Ile18301Leu)
c.51943A>C (p.Ile17315Leu)
c.33559A>C (p.Ile11187Leu)
c.55054A>C (p.Ile18352Leu)
c.55051A>C (p.Ile18351Leu)
c.54484A>C (p.Ile18162Leu)
c.51826A>C (p.Ile17276Leu)
c.51745A>C (p.Ile17249Leu)
c.33508A>C (p.Ile11170Leu)
c.23362A>C (p.Ile7788Leu)
2g.178591113C>ACA430266488TTN,TTN-AS1c.55689G>T (p.Val18563=)
c.60612G>T (p.Val20204=)
c.33417G>T (p.Val11139=)
c.52908G>T (p.Val17636=)
c.33792G>T (p.Val11264=)
c.33993G>T (p.Val11331=)
n.597-6483C>A
n.3189-26C>A
c.59709G>T (p.Val19903=)
c.33603G>T (p.Val11201=)
c.33462G>T (p.Val11154=)
c.59505G>T (p.Val19835=)
c.54903G>T (p.Val18301=)
c.54900G>T (p.Val18300=)
c.51942G>T (p.Val17314=)
c.33558G>T (p.Val11186=)
c.55053G>T (p.Val18351=)
c.55050G>T (p.Val18350=)
c.54483G>T (p.Val18161=)
c.51825G>T (p.Val17275=)
c.51744G>T (p.Val17248=)
c.33507G>T (p.Val11169=)
c.23361G>T (p.Val7787=)
2g.178591113C>GCA430266489TTN,TTN-AS1c.55689G>C (p.Val18563=)
c.60612G>C (p.Val20204=)
c.33417G>C (p.Val11139=)
c.52908G>C (p.Val17636=)
c.33792G>C (p.Val11264=)
c.33993G>C (p.Val11331=)
n.597-6483C>G
n.3189-26C>G
c.59709G>C (p.Val19903=)
c.33603G>C (p.Val11201=)
c.33462G>C (p.Val11154=)
c.59505G>C (p.Val19835=)
c.54903G>C (p.Val18301=)
c.54900G>C (p.Val18300=)
c.51942G>C (p.Val17314=)
c.33558G>C (p.Val11186=)
c.55053G>C (p.Val18351=)
c.55050G>C (p.Val18350=)
c.54483G>C (p.Val18161=)
c.51825G>C (p.Val17275=)
c.51744G>C (p.Val17248=)
c.33507G>C (p.Val11169=)
c.23361G>C (p.Val7787=)
2g.178591113C>TCA60969652TTN,TTN-AS1c.55689G>A (p.Val18563=)
c.60612G>A (p.Val20204=)
c.33417G>A (p.Val11139=)
c.52908G>A (p.Val17636=)
c.33792G>A (p.Val11264=)
c.33993G>A (p.Val11331=)
n.597-6483C>T
n.3189-26C>T
c.59709G>A (p.Val19903=)
c.33603G>A (p.Val11201=)
c.33462G>A (p.Val11154=)
c.59505G>A (p.Val19835=)
c.54903G>A (p.Val18301=)
c.54900G>A (p.Val18300=)
c.51942G>A (p.Val17314=)
c.33558G>A (p.Val11186=)
c.55053G>A (p.Val18351=)
c.55050G>A (p.Val18350=)
c.54483G>A (p.Val18161=)
c.51825G>A (p.Val17275=)
c.51744G>A (p.Val17248=)
c.33507G>A (p.Val11169=)
c.23361G>A (p.Val7787=)
dbSNP gnomAD
2g.178591114A>CCA349483579TTN,TTN-AS1c.55688T>G (p.Val18563Gly)
c.60611T>G (p.Val20204Gly)
c.33416T>G (p.Val11139Gly)
c.52907T>G (p.Val17636Gly)
c.33791T>G (p.Val11264Gly)
c.33992T>G (p.Val11331Gly)
n.597-6482A>C
n.3189-25A>C
c.59708T>G (p.Val19903Gly)
c.33602T>G (p.Val11201Gly)
c.33461T>G (p.Val11154Gly)
c.59504T>G (p.Val19835Gly)
c.54902T>G (p.Val18301Gly)
c.54899T>G (p.Val18300Gly)
c.51941T>G (p.Val17314Gly)
c.33557T>G (p.Val11186Gly)
c.55052T>G (p.Val18351Gly)
c.55049T>G (p.Val18350Gly)
c.54482T>G (p.Val18161Gly)
c.51824T>G (p.Val17275Gly)
c.51743T>G (p.Val17248Gly)
c.33506T>G (p.Val11169Gly)
c.23360T>G (p.Val7787Gly)
2g.178591114A>GCA349483581TTN,TTN-AS1c.55688T>C (p.Val18563Ala)
c.60611T>C (p.Val20204Ala)
c.33416T>C (p.Val11139Ala)
c.52907T>C (p.Val17636Ala)
c.33791T>C (p.Val11264Ala)
c.33992T>C (p.Val11331Ala)
n.597-6482A>G
n.3189-25A>G
c.59708T>C (p.Val19903Ala)
c.33602T>C (p.Val11201Ala)
c.33461T>C (p.Val11154Ala)
c.59504T>C (p.Val19835Ala)
c.54902T>C (p.Val18301Ala)
c.54899T>C (p.Val18300Ala)
c.51941T>C (p.Val17314Ala)
c.33557T>C (p.Val11186Ala)
c.55052T>C (p.Val18351Ala)
c.55049T>C (p.Val18350Ala)
c.54482T>C (p.Val18161Ala)
c.51824T>C (p.Val17275Ala)
c.51743T>C (p.Val17248Ala)
c.33506T>C (p.Val11169Ala)
c.23360T>C (p.Val7787Ala)
2g.178591114A>TCA349483584TTN,TTN-AS1c.55688T>A (p.Val18563Glu)
c.60611T>A (p.Val20204Glu)
c.33416T>A (p.Val11139Glu)
c.52907T>A (p.Val17636Glu)
c.33791T>A (p.Val11264Glu)
c.33992T>A (p.Val11331Glu)
n.597-6482A>T
n.3189-25A>T
c.59708T>A (p.Val19903Glu)
c.33602T>A (p.Val11201Glu)
c.33461T>A (p.Val11154Glu)
c.59504T>A (p.Val19835Glu)
c.54902T>A (p.Val18301Glu)
c.54899T>A (p.Val18300Glu)
c.51941T>A (p.Val17314Glu)
c.33557T>A (p.Val11186Glu)
c.55052T>A (p.Val18351Glu)
c.55049T>A (p.Val18350Glu)
c.54482T>A (p.Val18161Glu)
c.51824T>A (p.Val17275Glu)
c.51743T>A (p.Val17248Glu)
c.33506T>A (p.Val11169Glu)
c.23360T>A (p.Val7787Glu)
2g.178591115C>ACA349483589TTN,TTN-AS1c.55687G>T (p.Val18563Leu)
c.60610G>T (p.Val20204Leu)
c.33415G>T (p.Val11139Leu)
c.52906G>T (p.Val17636Leu)
c.33790G>T (p.Val11264Leu)
c.33991G>T (p.Val11331Leu)
n.597-6481C>A
n.3189-24C>A
c.59707G>T (p.Val19903Leu)
c.33601G>T (p.Val11201Leu)
c.33460G>T (p.Val11154Leu)
c.59503G>T (p.Val19835Leu)
c.54901G>T (p.Val18301Leu)
c.54898G>T (p.Val18300Leu)
c.51940G>T (p.Val17314Leu)
c.33556G>T (p.Val11186Leu)
c.55051G>T (p.Val18351Leu)
c.55048G>T (p.Val18350Leu)
c.54481G>T (p.Val18161Leu)
c.51823G>T (p.Val17275Leu)
c.51742G>T (p.Val17248Leu)
c.33505G>T (p.Val11169Leu)
c.23359G>T (p.Val7787Leu)
2g.178591115C>GCA349483591TTN,TTN-AS1c.55687G>C (p.Val18563Leu)
c.60610G>C (p.Val20204Leu)
c.33415G>C (p.Val11139Leu)
c.52906G>C (p.Val17636Leu)
c.33790G>C (p.Val11264Leu)
c.33991G>C (p.Val11331Leu)
n.597-6481C>G
n.3189-24C>G
c.59707G>C (p.Val19903Leu)
c.33601G>C (p.Val11201Leu)
c.33460G>C (p.Val11154Leu)
c.59503G>C (p.Val19835Leu)
c.54901G>C (p.Val18301Leu)
c.54898G>C (p.Val18300Leu)
c.51940G>C (p.Val17314Leu)
c.33556G>C (p.Val11186Leu)
c.55051G>C (p.Val18351Leu)
c.55048G>C (p.Val18350Leu)
c.54481G>C (p.Val18161Leu)
c.51823G>C (p.Val17275Leu)
c.51742G>C (p.Val17248Leu)
c.33505G>C (p.Val11169Leu)
c.23359G>C (p.Val7787Leu)
2g.178591115C>TCA349483593TTN,TTN-AS1c.55687G>A (p.Val18563Met)
c.60610G>A (p.Val20204Met)
c.33415G>A (p.Val11139Met)
c.52906G>A (p.Val17636Met)
c.33790G>A (p.Val11264Met)
c.33991G>A (p.Val11331Met)
n.597-6481C>T
n.3189-24C>T
c.59707G>A (p.Val19903Met)
c.33601G>A (p.Val11201Met)
c.33460G>A (p.Val11154Met)
c.59503G>A (p.Val19835Met)
c.54901G>A (p.Val18301Met)
c.54898G>A (p.Val18300Met)
c.51940G>A (p.Val17314Met)
c.33556G>A (p.Val11186Met)
c.55051G>A (p.Val18351Met)
c.55048G>A (p.Val18350Met)
c.54481G>A (p.Val18161Met)
c.51823G>A (p.Val17275Met)
c.51742G>A (p.Val17248Met)
c.33505G>A (p.Val11169Met)
c.23359G>A (p.Val7787Met)
2g.178591116A>CCA430266490TTN,TTN-AS1c.55686T>G (p.Pro18562=)
c.60609T>G (p.Pro20203=)
c.33414T>G (p.Pro11138=)
c.52905T>G (p.Pro17635=)
c.33789T>G (p.Pro11263=)
c.33990T>G (p.Pro11330=)
n.597-6480A>C
n.3189-23A>C
c.59706T>G (p.Pro19902=)
c.33600T>G (p.Pro11200=)
c.33459T>G (p.Pro11153=)
c.59502T>G (p.Pro19834=)
c.54900T>G (p.Pro18300=)
c.54897T>G (p.Pro18299=)
c.51939T>G (p.Pro17313=)
c.33555T>G (p.Pro11185=)
c.55050T>G (p.Pro18350=)
c.55047T>G (p.Pro18349=)
c.54480T>G (p.Pro18160=)
c.51822T>G (p.Pro17274=)
c.51741T>G (p.Pro17247=)
c.33504T>G (p.Pro11168=)
c.23358T>G (p.Pro7786=)
2g.178591116A>GCA430266492TTN,TTN-AS1c.55686T>C (p.Pro18562=)
c.60609T>C (p.Pro20203=)
c.33414T>C (p.Pro11138=)
c.52905T>C (p.Pro17635=)
c.33789T>C (p.Pro11263=)
c.33990T>C (p.Pro11330=)
n.597-6480A>G
n.3189-23A>G
c.59706T>C (p.Pro19902=)
c.33600T>C (p.Pro11200=)
c.33459T>C (p.Pro11153=)
c.59502T>C (p.Pro19834=)
c.54900T>C (p.Pro18300=)
c.54897T>C (p.Pro18299=)
c.51939T>C (p.Pro17313=)
c.33555T>C (p.Pro11185=)
c.55050T>C (p.Pro18350=)
c.55047T>C (p.Pro18349=)
c.54480T>C (p.Pro18160=)
c.51822T>C (p.Pro17274=)
c.51741T>C (p.Pro17247=)
c.33504T>C (p.Pro11168=)
c.23358T>C (p.Pro7786=)
2g.178591116A>TCA430266493TTN,TTN-AS1c.55686T>A (p.Pro18562=)
c.60609T>A (p.Pro20203=)
c.33414T>A (p.Pro11138=)
c.52905T>A (p.Pro17635=)
c.33789T>A (p.Pro11263=)
c.33990T>A (p.Pro11330=)
n.597-6480A>T
n.3189-23A>T
c.59706T>A (p.Pro19902=)
c.33600T>A (p.Pro11200=)
c.33459T>A (p.Pro11153=)
c.59502T>A (p.Pro19834=)
c.54900T>A (p.Pro18300=)
c.54897T>A (p.Pro18299=)
c.51939T>A (p.Pro17313=)
c.33555T>A (p.Pro11185=)
c.55050T>A (p.Pro18350=)
c.55047T>A (p.Pro18349=)
c.54480T>A (p.Pro18160=)
c.51822T>A (p.Pro17274=)
c.51741T>A (p.Pro17247=)
c.33504T>A (p.Pro11168=)
c.23358T>A (p.Pro7786=)
2g.178591117G>ACA1992469TTN,TTN-AS1c.55685C>T (p.Pro18562Leu)
c.60608C>T (p.Pro20203Leu)
c.33413C>T (p.Pro11138Leu)
c.52904C>T (p.Pro17635Leu)
c.33788C>T (p.Pro11263Leu)
c.33989C>T (p.Pro11330Leu)
n.597-6479G>A
n.3189-22G>A
c.59705C>T (p.Pro19902Leu)
c.33599C>T (p.Pro11200Leu)
c.33458C>T (p.Pro11153Leu)
c.59501C>T (p.Pro19834Leu)
c.54899C>T (p.Pro18300Leu)
c.54896C>T (p.Pro18299Leu)
c.51938C>T (p.Pro17313Leu)
c.33554C>T (p.Pro11185Leu)
c.55049C>T (p.Pro18350Leu)
c.55046C>T (p.Pro18349Leu)
c.54479C>T (p.Pro18160Leu)
c.51821C>T (p.Pro17274Leu)
c.51740C>T (p.Pro17247Leu)
c.33503C>T (p.Pro11168Leu)
c.23357C>T (p.Pro7786Leu)
dbSNP ExAC gnomAD
2g.178591117G>CCA349483597TTN,TTN-AS1c.55685C>G (p.Pro18562Arg)
c.60608C>G (p.Pro20203Arg)
c.33413C>G (p.Pro11138Arg)
c.52904C>G (p.Pro17635Arg)
c.33788C>G (p.Pro11263Arg)
c.33989C>G (p.Pro11330Arg)
n.597-6479G>C
n.3189-22G>C
c.59705C>G (p.Pro19902Arg)
c.33599C>G (p.Pro11200Arg)
c.33458C>G (p.Pro11153Arg)
c.59501C>G (p.Pro19834Arg)
c.54899C>G (p.Pro18300Arg)
c.54896C>G (p.Pro18299Arg)
c.51938C>G (p.Pro17313Arg)
c.33554C>G (p.Pro11185Arg)
c.55049C>G (p.Pro18350Arg)
c.55046C>G (p.Pro18349Arg)
c.54479C>G (p.Pro18160Arg)
c.51821C>G (p.Pro17274Arg)
c.51740C>G (p.Pro17247Arg)
c.33503C>G (p.Pro11168Arg)
c.23357C>G (p.Pro7786Arg)
2g.178591117G>TCA349483594TTN,TTN-AS1c.55685C>A (p.Pro18562His)
c.60608C>A (p.Pro20203His)
c.33413C>A (p.Pro11138His)
c.52904C>A (p.Pro17635His)
c.33788C>A (p.Pro11263His)
c.33989C>A (p.Pro11330His)
n.597-6479G>T
n.3189-22G>T
c.59705C>A (p.Pro19902His)
c.33599C>A (p.Pro11200His)
c.33458C>A (p.Pro11153His)
c.59501C>A (p.Pro19834His)
c.54899C>A (p.Pro18300His)
c.54896C>A (p.Pro18299His)
c.51938C>A (p.Pro17313His)
c.33554C>A (p.Pro11185His)
c.55049C>A (p.Pro18350His)
c.55046C>A (p.Pro18349His)
c.54479C>A (p.Pro18160His)
c.51821C>A (p.Pro17274His)
c.51740C>A (p.Pro17247His)
c.33503C>A (p.Pro11168His)
c.23357C>A (p.Pro7786His)
2g.178591118G>ACA1992470TTN,TTN-AS1c.55684C>T (p.Pro18562Ser)
c.60607C>T (p.Pro20203Ser)
c.33412C>T (p.Pro11138Ser)
c.52903C>T (p.Pro17635Ser)
c.33787C>T (p.Pro11263Ser)
c.33988C>T (p.Pro11330Ser)
n.597-6478G>A
n.3189-21G>A
c.59704C>T (p.Pro19902Ser)
c.33598C>T (p.Pro11200Ser)
c.33457C>T (p.Pro11153Ser)
c.59500C>T (p.Pro19834Ser)
c.54898C>T (p.Pro18300Ser)
c.54895C>T (p.Pro18299Ser)
c.51937C>T (p.Pro17313Ser)
c.33553C>T (p.Pro11185Ser)
c.55048C>T (p.Pro18350Ser)
c.55045C>T (p.Pro18349Ser)
c.54478C>T (p.Pro18160Ser)
c.51820C>T (p.Pro17274Ser)
c.51739C>T (p.Pro17247Ser)
c.33502C>T (p.Pro11168Ser)
c.23356C>T (p.Pro7786Ser)
dbSNP ExAC gnomAD
2g.178591118G>CCA349483600TTN,TTN-AS1c.55684C>G (p.Pro18562Ala)
c.60607C>G (p.Pro20203Ala)
c.33412C>G (p.Pro11138Ala)
c.52903C>G (p.Pro17635Ala)
c.33787C>G (p.Pro11263Ala)
c.33988C>G (p.Pro11330Ala)
n.597-6478G>C
n.3189-21G>C
c.59704C>G (p.Pro19902Ala)
c.33598C>G (p.Pro11200Ala)
c.33457C>G (p.Pro11153Ala)
c.59500C>G (p.Pro19834Ala)
c.54898C>G (p.Pro18300Ala)
c.54895C>G (p.Pro18299Ala)
c.51937C>G (p.Pro17313Ala)
c.33553C>G (p.Pro11185Ala)
c.55048C>G (p.Pro18350Ala)
c.55045C>G (p.Pro18349Ala)
c.54478C>G (p.Pro18160Ala)
c.51820C>G (p.Pro17274Ala)
c.51739C>G (p.Pro17247Ala)
c.33502C>G (p.Pro11168Ala)
c.23356C>G (p.Pro7786Ala)
2g.178591118G>TCA349483604TTN,TTN-AS1c.55684C>A (p.Pro18562Thr)
c.60607C>A (p.Pro20203Thr)
c.33412C>A (p.Pro11138Thr)
c.52903C>A (p.Pro17635Thr)
c.33787C>A (p.Pro11263Thr)
c.33988C>A (p.Pro11330Thr)
n.597-6478G>T
n.3189-21G>T
c.59704C>A (p.Pro19902Thr)
c.33598C>A (p.Pro11200Thr)
c.33457C>A (p.Pro11153Thr)
c.59500C>A (p.Pro19834Thr)
c.54898C>A (p.Pro18300Thr)
c.54895C>A (p.Pro18299Thr)
c.51937C>A (p.Pro17313Thr)
c.33553C>A (p.Pro11185Thr)
c.55048C>A (p.Pro18350Thr)
c.55045C>A (p.Pro18349Thr)
c.54478C>A (p.Pro18160Thr)
c.51820C>A (p.Pro17274Thr)
c.51739C>A (p.Pro17247Thr)
c.33502C>A (p.Pro11168Thr)
c.23356C>A (p.Pro7786Thr)
2g.178591119G>ACA430266496TTN,TTN-AS1c.55683C>T (p.Ser18561=)
c.60606C>T (p.Ser20202=)
c.33411C>T (p.Ser11137=)
c.52902C>T (p.Ser17634=)
c.33786C>T (p.Ser11262=)
c.33987C>T (p.Ser11329=)
n.597-6477G>A
n.3189-20G>A
c.59703C>T (p.Ser19901=)
c.33597C>T (p.Ser11199=)
c.33456C>T (p.Ser11152=)
c.59499C>T (p.Ser19833=)
c.54897C>T (p.Ser18299=)
c.54894C>T (p.Ser18298=)
c.51936C>T (p.Ser17312=)
c.33552C>T (p.Ser11184=)
c.55047C>T (p.Ser18349=)
c.55044C>T (p.Ser18348=)
c.54477C>T (p.Ser18159=)
c.51819C>T (p.Ser17273=)
c.51738C>T (p.Ser17246=)
c.33501C>T (p.Ser11167=)
c.23355C>T (p.Ser7785=)
2g.178591119G>CCA310179TTN,TTN-AS1c.55683C>G (p.Ser18561Arg)
c.60606C>G (p.Ser20202Arg)
c.33411C>G (p.Ser11137Arg)
c.52902C>G (p.Ser17634Arg)
c.33786C>G (p.Ser11262Arg)
c.33987C>G (p.Ser11329Arg)
n.597-6477G>C
n.3189-20G>C
c.59703C>G (p.Ser19901Arg)
c.33597C>G (p.Ser11199Arg)
c.33456C>G (p.Ser11152Arg)
c.59499C>G (p.Ser19833Arg)
c.54897C>G (p.Ser18299Arg)
c.54894C>G (p.Ser18298Arg)
c.51936C>G (p.Ser17312Arg)
c.33552C>G (p.Ser11184Arg)
c.55047C>G (p.Ser18349Arg)
c.55044C>G (p.Ser18348Arg)
c.54477C>G (p.Ser18159Arg)
c.51819C>G (p.Ser17273Arg)
c.51738C>G (p.Ser17246Arg)
c.33501C>G (p.Ser11167Arg)
c.23355C>G (p.Ser7785Arg)
ClinVar dbSNP gnomAD
2g.178591119G>TCA349483610TTN,TTN-AS1c.55683C>A (p.Ser18561Arg)
c.60606C>A (p.Ser20202Arg)
c.33411C>A (p.Ser11137Arg)
c.52902C>A (p.Ser17634Arg)
c.33786C>A (p.Ser11262Arg)
c.33987C>A (p.Ser11329Arg)
n.597-6477G>T
n.3189-20G>T
c.59703C>A (p.Ser19901Arg)
c.33597C>A (p.Ser11199Arg)
c.33456C>A (p.Ser11152Arg)
c.59499C>A (p.Ser19833Arg)
c.54897C>A (p.Ser18299Arg)
c.54894C>A (p.Ser18298Arg)
c.51936C>A (p.Ser17312Arg)
c.33552C>A (p.Ser11184Arg)
c.55047C>A (p.Ser18349Arg)
c.55044C>A (p.Ser18348Arg)
c.54477C>A (p.Ser18159Arg)
c.51819C>A (p.Ser17273Arg)
c.51738C>A (p.Ser17246Arg)
c.33501C>A (p.Ser11167Arg)
c.23355C>A (p.Ser7785Arg)
2g.178591120C>ACA349483612TTN,TTN-AS1c.55682G>T (p.Ser18561Ile)
c.60605G>T (p.Ser20202Ile)
c.33410G>T (p.Ser11137Ile)
c.52901G>T (p.Ser17634Ile)
c.33785G>T (p.Ser11262Ile)
c.33986G>T (p.Ser11329Ile)
n.597-6476C>A
n.3189-19C>A
c.59702G>T (p.Ser19901Ile)
c.33596G>T (p.Ser11199Ile)
c.33455G>T (p.Ser11152Ile)
c.59498G>T (p.Ser19833Ile)
c.54896G>T (p.Ser18299Ile)
c.54893G>T (p.Ser18298Ile)
c.51935G>T (p.Ser17312Ile)
c.33551G>T (p.Ser11184Ile)
c.55046G>T (p.Ser18349Ile)
c.55043G>T (p.Ser18348Ile)
c.54476G>T (p.Ser18159Ile)
c.51818G>T (p.Ser17273Ile)
c.51737G>T (p.Ser17246Ile)
c.33500G>T (p.Ser11167Ile)
c.23354G>T (p.Ser7785Ile)

Number of alleles fetched