Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618776_178618778delCA1310551170TTN,TTN-AS1c.39071_39073del (p.Asp13024del)
c.20156_20158del (p.Asp6719del)
c.19955_19957del (p.Asp6652del)
c.19580_19582del (p.Asp6527del)
c.46775_46777del (p.Asp15592del)
c.41852_41854del (p.Asp13951del)
n.1605-977_1605-975del
c.45872_45874del (p.Asp15291del)
c.19766_19768del (p.Asp6589del)
c.19625_19627del (p.Asp6542del)
c.45668_45670del (p.Asp15223del)
c.41066_41068del (p.Asp13689del)
c.41063_41065del (p.Asp13688del)
c.38105_38107del (p.Asp12702del)
c.19721_19723del (p.Asp6574del)
c.41216_41218del (p.Asp13739del)
c.41213_41215del (p.Asp13738del)
c.40646_40648del (p.Asp13549del)
c.37988_37990del (p.Asp12663del)
c.37907_37909del (p.Asp12636del)
c.19670_19672del (p.Asp6557del)
c.9524_9526del (p.Asp3175del)
 dbSNP
2g.178618777A=CA1310551172TTN,TTN-AS1c.39069T= (p.Tyr13023=)
c.20154T= (p.Tyr6718=)
c.19953T= (p.Tyr6651=)
c.19578T= (p.Tyr6526=)
c.46773T= (p.Tyr15591=)
c.41850T= (p.Tyr13950=)
n.1605-976A=
c.45870T= (p.Tyr15290=)
c.19764T= (p.Tyr6588=)
c.19623T= (p.Tyr6541=)
c.45666T= (p.Tyr15222=)
c.41064T= (p.Tyr13688=)
c.41061T= (p.Tyr13687=)
c.38103T= (p.Tyr12701=)
c.19719T= (p.Tyr6573=)
c.41214T= (p.Tyr13738=)
c.41211T= (p.Tyr13737=)
c.40644T= (p.Tyr13548=)
c.37986T= (p.Tyr12662=)
c.37905T= (p.Tyr12635=)
c.19668T= (p.Tyr6556=)
c.9522T= (p.Tyr3174=)
2g.178618777A>CCA349622421TTN,TTN-AS1c.39069T>G (p.Tyr13023Ter)
c.20154T>G (p.Tyr6718Ter)
c.19953T>G (p.Tyr6651Ter)
c.19578T>G (p.Tyr6526Ter)
c.46773T>G (p.Tyr15591Ter)
c.41850T>G (p.Tyr13950Ter)
n.1605-976A>C
c.45870T>G (p.Tyr15290Ter)
c.19764T>G (p.Tyr6588Ter)
c.19623T>G (p.Tyr6541Ter)
c.45666T>G (p.Tyr15222Ter)
c.41064T>G (p.Tyr13688Ter)
c.41061T>G (p.Tyr13687Ter)
c.38103T>G (p.Tyr12701Ter)
c.19719T>G (p.Tyr6573Ter)
c.41214T>G (p.Tyr13738Ter)
c.41211T>G (p.Tyr13737Ter)
c.40644T>G (p.Tyr13548Ter)
c.37986T>G (p.Tyr12662Ter)
c.37905T>G (p.Tyr12635Ter)
c.19668T>G (p.Tyr6556Ter)
c.9522T>G (p.Tyr3174Ter)
2g.178618777A>GCA10613113TTN,TTN-AS1c.39069T>C (p.Tyr13023=)
c.20154T>C (p.Tyr6718=)
c.19953T>C (p.Tyr6651=)
c.19578T>C (p.Tyr6526=)
c.46773T>C (p.Tyr15591=)
c.41850T>C (p.Tyr13950=)
n.1605-976A>G
c.45870T>C (p.Tyr15290=)
c.19764T>C (p.Tyr6588=)
c.19623T>C (p.Tyr6541=)
c.45666T>C (p.Tyr15222=)
c.41064T>C (p.Tyr13688=)
c.41061T>C (p.Tyr13687=)
c.38103T>C (p.Tyr12701=)
c.19719T>C (p.Tyr6573=)
c.41214T>C (p.Tyr13738=)
c.41211T>C (p.Tyr13737=)
c.40644T>C (p.Tyr13548=)
c.37986T>C (p.Tyr12662=)
c.37905T>C (p.Tyr12635=)
c.19668T>C (p.Tyr6556=)
c.9522T>C (p.Tyr3174=)
 ClinVar dbSNP gnomAD v4
2g.178618777A>TCA261860TTN,TTN-AS1c.39069T>A (p.Tyr13023Ter)
c.20154T>A (p.Tyr6718Ter)
c.19953T>A (p.Tyr6651Ter)
c.19578T>A (p.Tyr6526Ter)
c.46773T>A (p.Tyr15591Ter)
c.41850T>A (p.Tyr13950Ter)
n.1605-976A>T
c.45870T>A (p.Tyr15290Ter)
c.19764T>A (p.Tyr6588Ter)
c.19623T>A (p.Tyr6541Ter)
c.45666T>A (p.Tyr15222Ter)
c.41064T>A (p.Tyr13688Ter)
c.41061T>A (p.Tyr13687Ter)
c.38103T>A (p.Tyr12701Ter)
c.19719T>A (p.Tyr6573Ter)
c.41214T>A (p.Tyr13738Ter)
c.41211T>A (p.Tyr13737Ter)
c.40644T>A (p.Tyr13548Ter)
c.37986T>A (p.Tyr12662Ter)
c.37905T>A (p.Tyr12635Ter)
c.19668T>A (p.Tyr6556Ter)
c.9522T>A (p.Tyr3174Ter)
 ClinVar dbSNP
2g.178618778T>ACA349622425TTN,TTN-AS1c.39068A>T (p.Tyr13023Phe)
c.20153A>T (p.Tyr6718Phe)
c.19952A>T (p.Tyr6651Phe)
c.19577A>T (p.Tyr6526Phe)
c.46772A>T (p.Tyr15591Phe)
c.41849A>T (p.Tyr13950Phe)
n.1605-975T>A
c.45869A>T (p.Tyr15290Phe)
c.19763A>T (p.Tyr6588Phe)
c.19622A>T (p.Tyr6541Phe)
c.45665A>T (p.Tyr15222Phe)
c.41063A>T (p.Tyr13688Phe)
c.41060A>T (p.Tyr13687Phe)
c.38102A>T (p.Tyr12701Phe)
c.19718A>T (p.Tyr6573Phe)
c.41213A>T (p.Tyr13738Phe)
c.41210A>T (p.Tyr13737Phe)
c.40643A>T (p.Tyr13548Phe)
c.37985A>T (p.Tyr12662Phe)
c.37904A>T (p.Tyr12635Phe)
c.19667A>T (p.Tyr6556Phe)
c.9521A>T (p.Tyr3174Phe)
2g.178618778T>CCA1995168TTN,TTN-AS1c.39068A>G (p.Tyr13023Cys)
c.20153A>G (p.Tyr6718Cys)
c.19952A>G (p.Tyr6651Cys)
c.19577A>G (p.Tyr6526Cys)
c.46772A>G (p.Tyr15591Cys)
c.41849A>G (p.Tyr13950Cys)
n.1605-975T>C
c.45869A>G (p.Tyr15290Cys)
c.19763A>G (p.Tyr6588Cys)
c.19622A>G (p.Tyr6541Cys)
c.45665A>G (p.Tyr15222Cys)
c.41063A>G (p.Tyr13688Cys)
c.41060A>G (p.Tyr13687Cys)
c.38102A>G (p.Tyr12701Cys)
c.19718A>G (p.Tyr6573Cys)
c.41213A>G (p.Tyr13738Cys)
c.41210A>G (p.Tyr13737Cys)
c.40643A>G (p.Tyr13548Cys)
c.37985A>G (p.Tyr12662Cys)
c.37904A>G (p.Tyr12635Cys)
c.19667A>G (p.Tyr6556Cys)
c.9521A>G (p.Tyr3174Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618778T>GCA349622428TTN,TTN-AS1c.39068A>C (p.Tyr13023Ser)
c.20153A>C (p.Tyr6718Ser)
c.19952A>C (p.Tyr6651Ser)
c.19577A>C (p.Tyr6526Ser)
c.46772A>C (p.Tyr15591Ser)
c.41849A>C (p.Tyr13950Ser)
n.1605-975T>G
c.45869A>C (p.Tyr15290Ser)
c.19763A>C (p.Tyr6588Ser)
c.19622A>C (p.Tyr6541Ser)
c.45665A>C (p.Tyr15222Ser)
c.41063A>C (p.Tyr13688Ser)
c.41060A>C (p.Tyr13687Ser)
c.38102A>C (p.Tyr12701Ser)
c.19718A>C (p.Tyr6573Ser)
c.41213A>C (p.Tyr13738Ser)
c.41210A>C (p.Tyr13737Ser)
c.40643A>C (p.Tyr13548Ser)
c.37985A>C (p.Tyr12662Ser)
c.37904A>C (p.Tyr12635Ser)
c.19667A>C (p.Tyr6556Ser)
c.9521A>C (p.Tyr3174Ser)
2g.178618778T=CA1310551173TTN,TTN-AS1c.39068A= (p.Tyr13023=)
c.20153A= (p.Tyr6718=)
c.19952A= (p.Tyr6651=)
c.19577A= (p.Tyr6526=)
c.46772A= (p.Tyr15591=)
c.41849A= (p.Tyr13950=)
n.1605-975T=
c.45869A= (p.Tyr15290=)
c.19763A= (p.Tyr6588=)
c.19622A= (p.Tyr6541=)
c.45665A= (p.Tyr15222=)
c.41063A= (p.Tyr13688=)
c.41060A= (p.Tyr13687=)
c.38102A= (p.Tyr12701=)
c.19718A= (p.Tyr6573=)
c.41213A= (p.Tyr13738=)
c.41210A= (p.Tyr13737=)
c.40643A= (p.Tyr13548=)
c.37985A= (p.Tyr12662=)
c.37904A= (p.Tyr12635=)
c.19667A= (p.Tyr6556=)
c.9521A= (p.Tyr3174=)
2g.178618779A=CA1310551174TTN,TTN-AS1c.39067T= (p.Tyr13023=)
c.20152T= (p.Tyr6718=)
c.19951T= (p.Tyr6651=)
c.19576T= (p.Tyr6526=)
c.46771T= (p.Tyr15591=)
c.41848T= (p.Tyr13950=)
n.1605-974A=
c.45868T= (p.Tyr15290=)
c.19762T= (p.Tyr6588=)
c.19621T= (p.Tyr6541=)
c.45664T= (p.Tyr15222=)
c.41062T= (p.Tyr13688=)
c.41059T= (p.Tyr13687=)
c.38101T= (p.Tyr12701=)
c.19717T= (p.Tyr6573=)
c.41212T= (p.Tyr13738=)
c.41209T= (p.Tyr13737=)
c.40642T= (p.Tyr13548=)
c.37984T= (p.Tyr12662=)
c.37903T= (p.Tyr12635=)
c.19666T= (p.Tyr6556=)
c.9520T= (p.Tyr3174=)
2g.178618779A>CCA349622430TTN,TTN-AS1c.39067T>G (p.Tyr13023Asp)
c.20152T>G (p.Tyr6718Asp)
c.19951T>G (p.Tyr6651Asp)
c.19576T>G (p.Tyr6526Asp)
c.46771T>G (p.Tyr15591Asp)
c.41848T>G (p.Tyr13950Asp)
n.1605-974A>C
c.45868T>G (p.Tyr15290Asp)
c.19762T>G (p.Tyr6588Asp)
c.19621T>G (p.Tyr6541Asp)
c.45664T>G (p.Tyr15222Asp)
c.41062T>G (p.Tyr13688Asp)
c.41059T>G (p.Tyr13687Asp)
c.38101T>G (p.Tyr12701Asp)
c.19717T>G (p.Tyr6573Asp)
c.41212T>G (p.Tyr13738Asp)
c.41209T>G (p.Tyr13737Asp)
c.40642T>G (p.Tyr13548Asp)
c.37984T>G (p.Tyr12662Asp)
c.37903T>G (p.Tyr12635Asp)
c.19666T>G (p.Tyr6556Asp)
c.9520T>G (p.Tyr3174Asp)
2g.178618779A>GCA1995169TTN,TTN-AS1c.39067T>C (p.Tyr13023His)
c.20152T>C (p.Tyr6718His)
c.19951T>C (p.Tyr6651His)
c.19576T>C (p.Tyr6526His)
c.46771T>C (p.Tyr15591His)
c.41848T>C (p.Tyr13950His)
n.1605-974A>G
c.45868T>C (p.Tyr15290His)
c.19762T>C (p.Tyr6588His)
c.19621T>C (p.Tyr6541His)
c.45664T>C (p.Tyr15222His)
c.41062T>C (p.Tyr13688His)
c.41059T>C (p.Tyr13687His)
c.38101T>C (p.Tyr12701His)
c.19717T>C (p.Tyr6573His)
c.41212T>C (p.Tyr13738His)
c.41209T>C (p.Tyr13737His)
c.40642T>C (p.Tyr13548His)
c.37984T>C (p.Tyr12662His)
c.37903T>C (p.Tyr12635His)
c.19666T>C (p.Tyr6556His)
c.9520T>C (p.Tyr3174His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618779A>TCA349622433TTN,TTN-AS1c.39067T>A (p.Tyr13023Asn)
c.20152T>A (p.Tyr6718Asn)
c.19951T>A (p.Tyr6651Asn)
c.19576T>A (p.Tyr6526Asn)
c.46771T>A (p.Tyr15591Asn)
c.41848T>A (p.Tyr13950Asn)
n.1605-974A>T
c.45868T>A (p.Tyr15290Asn)
c.19762T>A (p.Tyr6588Asn)
c.19621T>A (p.Tyr6541Asn)
c.45664T>A (p.Tyr15222Asn)
c.41062T>A (p.Tyr13688Asn)
c.41059T>A (p.Tyr13687Asn)
c.38101T>A (p.Tyr12701Asn)
c.19717T>A (p.Tyr6573Asn)
c.41212T>A (p.Tyr13738Asn)
c.41209T>A (p.Tyr13737Asn)
c.40642T>A (p.Tyr13548Asn)
c.37984T>A (p.Tyr12662Asn)
c.37903T>A (p.Tyr12635Asn)
c.19666T>A (p.Tyr6556Asn)
c.9520T>A (p.Tyr3174Asn)
2g.178618780T>ACA430108396TTN,TTN-AS1c.39066A>T (p.Pro13022=)
c.20151A>T (p.Pro6717=)
c.19950A>T (p.Pro6650=)
c.19575A>T (p.Pro6525=)
c.46770A>T (p.Pro15590=)
c.41847A>T (p.Pro13949=)
n.1605-973T>A
c.45867A>T (p.Pro15289=)
c.19761A>T (p.Pro6587=)
c.19620A>T (p.Pro6540=)
c.45663A>T (p.Pro15221=)
c.41061A>T (p.Pro13687=)
c.41058A>T (p.Pro13686=)
c.38100A>T (p.Pro12700=)
c.19716A>T (p.Pro6572=)
c.41211A>T (p.Pro13737=)
c.41208A>T (p.Pro13736=)
c.40641A>T (p.Pro13547=)
c.37983A>T (p.Pro12661=)
c.37902A>T (p.Pro12634=)
c.19665A>T (p.Pro6555=)
c.9519A>T (p.Pro3173=)
2g.178618780T>CCA430108398TTN,TTN-AS1c.39066A>G (p.Pro13022=)
c.20151A>G (p.Pro6717=)
c.19950A>G (p.Pro6650=)
c.19575A>G (p.Pro6525=)
c.46770A>G (p.Pro15590=)
c.41847A>G (p.Pro13949=)
n.1605-973T>C
c.45867A>G (p.Pro15289=)
c.19761A>G (p.Pro6587=)
c.19620A>G (p.Pro6540=)
c.45663A>G (p.Pro15221=)
c.41061A>G (p.Pro13687=)
c.41058A>G (p.Pro13686=)
c.38100A>G (p.Pro12700=)
c.19716A>G (p.Pro6572=)
c.41211A>G (p.Pro13737=)
c.41208A>G (p.Pro13736=)
c.40641A>G (p.Pro13547=)
c.37983A>G (p.Pro12661=)
c.37902A>G (p.Pro12634=)
c.19665A>G (p.Pro6555=)
c.9519A>G (p.Pro3173=)
 ClinVar gnomAD v4
2g.178618780T>GCA430108400TTN,TTN-AS1c.39066A>C (p.Pro13022=)
c.20151A>C (p.Pro6717=)
c.19950A>C (p.Pro6650=)
c.19575A>C (p.Pro6525=)
c.46770A>C (p.Pro15590=)
c.41847A>C (p.Pro13949=)
n.1605-973T>G
c.45867A>C (p.Pro15289=)
c.19761A>C (p.Pro6587=)
c.19620A>C (p.Pro6540=)
c.45663A>C (p.Pro15221=)
c.41061A>C (p.Pro13687=)
c.41058A>C (p.Pro13686=)
c.38100A>C (p.Pro12700=)
c.19716A>C (p.Pro6572=)
c.41211A>C (p.Pro13737=)
c.41208A>C (p.Pro13736=)
c.40641A>C (p.Pro13547=)
c.37983A>C (p.Pro12661=)
c.37902A>C (p.Pro12634=)
c.19665A>C (p.Pro6555=)
c.9519A>C (p.Pro3173=)
2g.178618781G>ACA349622438TTN,TTN-AS1c.39065C>T (p.Pro13022Leu)
c.20150C>T (p.Pro6717Leu)
c.19949C>T (p.Pro6650Leu)
c.19574C>T (p.Pro6525Leu)
c.46769C>T (p.Pro15590Leu)
c.41846C>T (p.Pro13949Leu)
n.1605-972G>A
c.45866C>T (p.Pro15289Leu)
c.19760C>T (p.Pro6587Leu)
c.19619C>T (p.Pro6540Leu)
c.45662C>T (p.Pro15221Leu)
c.41060C>T (p.Pro13687Leu)
c.41057C>T (p.Pro13686Leu)
c.38099C>T (p.Pro12700Leu)
c.19715C>T (p.Pro6572Leu)
c.41210C>T (p.Pro13737Leu)
c.41207C>T (p.Pro13736Leu)
c.40640C>T (p.Pro13547Leu)
c.37982C>T (p.Pro12661Leu)
c.37901C>T (p.Pro12634Leu)
c.19664C>T (p.Pro6555Leu)
c.9518C>T (p.Pro3173Leu)
2g.178618781G>CCA349622439TTN,TTN-AS1c.39065C>G (p.Pro13022Arg)
c.20150C>G (p.Pro6717Arg)
c.19949C>G (p.Pro6650Arg)
c.19574C>G (p.Pro6525Arg)
c.46769C>G (p.Pro15590Arg)
c.41846C>G (p.Pro13949Arg)
n.1605-972G>C
c.45866C>G (p.Pro15289Arg)
c.19760C>G (p.Pro6587Arg)
c.19619C>G (p.Pro6540Arg)
c.45662C>G (p.Pro15221Arg)
c.41060C>G (p.Pro13687Arg)
c.41057C>G (p.Pro13686Arg)
c.38099C>G (p.Pro12700Arg)
c.19715C>G (p.Pro6572Arg)
c.41210C>G (p.Pro13737Arg)
c.41207C>G (p.Pro13736Arg)
c.40640C>G (p.Pro13547Arg)
c.37982C>G (p.Pro12661Arg)
c.37901C>G (p.Pro12634Arg)
c.19664C>G (p.Pro6555Arg)
c.9518C>G (p.Pro3173Arg)
2g.178618781G>TCA349622436TTN,TTN-AS1c.39065C>A (p.Pro13022Gln)
c.20150C>A (p.Pro6717Gln)
c.19949C>A (p.Pro6650Gln)
c.19574C>A (p.Pro6525Gln)
c.46769C>A (p.Pro15590Gln)
c.41846C>A (p.Pro13949Gln)
n.1605-972G>T
c.45866C>A (p.Pro15289Gln)
c.19760C>A (p.Pro6587Gln)
c.19619C>A (p.Pro6540Gln)
c.45662C>A (p.Pro15221Gln)
c.41060C>A (p.Pro13687Gln)
c.41057C>A (p.Pro13686Gln)
c.38099C>A (p.Pro12700Gln)
c.19715C>A (p.Pro6572Gln)
c.41210C>A (p.Pro13737Gln)
c.41207C>A (p.Pro13736Gln)
c.40640C>A (p.Pro13547Gln)
c.37982C>A (p.Pro12661Gln)
c.37901C>A (p.Pro12634Gln)
c.19664C>A (p.Pro6555Gln)
c.9518C>A (p.Pro3173Gln)
2g.178618782G>ACA349622442TTN,TTN-AS1c.39064C>T (p.Pro13022Ser)
c.20149C>T (p.Pro6717Ser)
c.19948C>T (p.Pro6650Ser)
c.19573C>T (p.Pro6525Ser)
c.46768C>T (p.Pro15590Ser)
c.41845C>T (p.Pro13949Ser)
n.1605-971G>A
c.45865C>T (p.Pro15289Ser)
c.19759C>T (p.Pro6587Ser)
c.19618C>T (p.Pro6540Ser)
c.45661C>T (p.Pro15221Ser)
c.41059C>T (p.Pro13687Ser)
c.41056C>T (p.Pro13686Ser)
c.38098C>T (p.Pro12700Ser)
c.19714C>T (p.Pro6572Ser)
c.41209C>T (p.Pro13737Ser)
c.41206C>T (p.Pro13736Ser)
c.40639C>T (p.Pro13547Ser)
c.37981C>T (p.Pro12661Ser)
c.37900C>T (p.Pro12634Ser)
c.19663C>T (p.Pro6555Ser)
c.9517C>T (p.Pro3173Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178618782G>CCA349622444TTN,TTN-AS1c.39064C>G (p.Pro13022Ala)
c.20149C>G (p.Pro6717Ala)
c.19948C>G (p.Pro6650Ala)
c.19573C>G (p.Pro6525Ala)
c.46768C>G (p.Pro15590Ala)
c.41845C>G (p.Pro13949Ala)
n.1605-971G>C
c.45865C>G (p.Pro15289Ala)
c.19759C>G (p.Pro6587Ala)
c.19618C>G (p.Pro6540Ala)
c.45661C>G (p.Pro15221Ala)
c.41059C>G (p.Pro13687Ala)
c.41056C>G (p.Pro13686Ala)
c.38098C>G (p.Pro12700Ala)
c.19714C>G (p.Pro6572Ala)
c.41209C>G (p.Pro13737Ala)
c.41206C>G (p.Pro13736Ala)
c.40639C>G (p.Pro13547Ala)
c.37981C>G (p.Pro12661Ala)
c.37900C>G (p.Pro12634Ala)
c.19663C>G (p.Pro6555Ala)
c.9517C>G (p.Pro3173Ala)
2g.178618782G>TCA349622445TTN,TTN-AS1c.39064C>A (p.Pro13022Thr)
c.20149C>A (p.Pro6717Thr)
c.19948C>A (p.Pro6650Thr)
c.19573C>A (p.Pro6525Thr)
c.46768C>A (p.Pro15590Thr)
c.41845C>A (p.Pro13949Thr)
n.1605-971G>T
c.45865C>A (p.Pro15289Thr)
c.19759C>A (p.Pro6587Thr)
c.19618C>A (p.Pro6540Thr)
c.45661C>A (p.Pro15221Thr)
c.41059C>A (p.Pro13687Thr)
c.41056C>A (p.Pro13686Thr)
c.38098C>A (p.Pro12700Thr)
c.19714C>A (p.Pro6572Thr)
c.41209C>A (p.Pro13737Thr)
c.41206C>A (p.Pro13736Thr)
c.40639C>A (p.Pro13547Thr)
c.37981C>A (p.Pro12661Thr)
c.37900C>A (p.Pro12634Thr)
c.19663C>A (p.Pro6555Thr)
c.9517C>A (p.Pro3173Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178618783C>ACA430108410TTN,TTN-AS1c.39063G>T (p.Val13021=)
c.20148G>T (p.Val6716=)
c.19947G>T (p.Val6649=)
c.19572G>T (p.Val6524=)
c.46767G>T (p.Val15589=)
c.41844G>T (p.Val13948=)
n.1605-970C>A
c.45864G>T (p.Val15288=)
c.19758G>T (p.Val6586=)
c.19617G>T (p.Val6539=)
c.45660G>T (p.Val15220=)
c.41058G>T (p.Val13686=)
c.41055G>T (p.Val13685=)
c.38097G>T (p.Val12699=)
c.19713G>T (p.Val6571=)
c.41208G>T (p.Val13736=)
c.41205G>T (p.Val13735=)
c.40638G>T (p.Val13546=)
c.37980G>T (p.Val12660=)
c.37899G>T (p.Val12633=)
c.19662G>T (p.Val6554=)
c.9516G>T (p.Val3172=)
2g.178618783C=CA1310551175TTN,TTN-AS1c.39063G= (p.Val13021=)
c.20148G= (p.Val6716=)
c.19947G= (p.Val6649=)
c.19572G= (p.Val6524=)
c.46767G= (p.Val15589=)
c.41844G= (p.Val13948=)
n.1605-970C=
c.45864G= (p.Val15288=)
c.19758G= (p.Val6586=)
c.19617G= (p.Val6539=)
c.45660G= (p.Val15220=)
c.41058G= (p.Val13686=)
c.41055G= (p.Val13685=)
c.38097G= (p.Val12699=)
c.19713G= (p.Val6571=)
c.41208G= (p.Val13736=)
c.41205G= (p.Val13735=)
c.40638G= (p.Val13546=)
c.37980G= (p.Val12660=)
c.37899G= (p.Val12633=)
c.19662G= (p.Val6554=)
c.9516G= (p.Val3172=)
2g.178618783C>GCA430108412TTN,TTN-AS1c.39063G>C (p.Val13021=)
c.20148G>C (p.Val6716=)
c.19947G>C (p.Val6649=)
c.19572G>C (p.Val6524=)
c.46767G>C (p.Val15589=)
c.41844G>C (p.Val13948=)
n.1605-970C>G
c.45864G>C (p.Val15288=)
c.19758G>C (p.Val6586=)
c.19617G>C (p.Val6539=)
c.45660G>C (p.Val15220=)
c.41058G>C (p.Val13686=)
c.41055G>C (p.Val13685=)
c.38097G>C (p.Val12699=)
c.19713G>C (p.Val6571=)
c.41208G>C (p.Val13736=)
c.41205G>C (p.Val13735=)
c.40638G>C (p.Val13546=)
c.37980G>C (p.Val12660=)
c.37899G>C (p.Val12633=)
c.19662G>C (p.Val6554=)
c.9516G>C (p.Val3172=)
2g.178618783C>TCA430108413TTN,TTN-AS1c.39063G>A (p.Val13021=)
c.20148G>A (p.Val6716=)
c.19947G>A (p.Val6649=)
c.19572G>A (p.Val6524=)
c.46767G>A (p.Val15589=)
c.41844G>A (p.Val13948=)
n.1605-970C>T
c.45864G>A (p.Val15288=)
c.19758G>A (p.Val6586=)
c.19617G>A (p.Val6539=)
c.45660G>A (p.Val15220=)
c.41058G>A (p.Val13686=)
c.41055G>A (p.Val13685=)
c.38097G>A (p.Val12699=)
c.19713G>A (p.Val6571=)
c.41208G>A (p.Val13736=)
c.41205G>A (p.Val13735=)
c.40638G>A (p.Val13546=)
c.37980G>A (p.Val12660=)
c.37899G>A (p.Val12633=)
c.19662G>A (p.Val6554=)
c.9516G>A (p.Val3172=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178618784A=CA1310551176TTN,TTN-AS1c.39062T= (p.Val13021=)
c.20147T= (p.Val6716=)
c.19946T= (p.Val6649=)
c.19571T= (p.Val6524=)
c.46766T= (p.Val15589=)
c.41843T= (p.Val13948=)
n.1605-969A=
c.45863T= (p.Val15288=)
c.19757T= (p.Val6586=)
c.19616T= (p.Val6539=)
c.45659T= (p.Val15220=)
c.41057T= (p.Val13686=)
c.41054T= (p.Val13685=)
c.38096T= (p.Val12699=)
c.19712T= (p.Val6571=)
c.41207T= (p.Val13736=)
c.41204T= (p.Val13735=)
c.40637T= (p.Val13546=)
c.37979T= (p.Val12660=)
c.37898T= (p.Val12633=)
c.19661T= (p.Val6554=)
c.9515T= (p.Val3172=)
2g.178618784A>CCA349622448TTN,TTN-AS1c.39062T>G (p.Val13021Gly)
c.20147T>G (p.Val6716Gly)
c.19946T>G (p.Val6649Gly)
c.19571T>G (p.Val6524Gly)
c.46766T>G (p.Val15589Gly)
c.41843T>G (p.Val13948Gly)
n.1605-969A>C
c.45863T>G (p.Val15288Gly)
c.19757T>G (p.Val6586Gly)
c.19616T>G (p.Val6539Gly)
c.45659T>G (p.Val15220Gly)
c.41057T>G (p.Val13686Gly)
c.41054T>G (p.Val13685Gly)
c.38096T>G (p.Val12699Gly)
c.19712T>G (p.Val6571Gly)
c.41207T>G (p.Val13736Gly)
c.41204T>G (p.Val13735Gly)
c.40637T>G (p.Val13546Gly)
c.37979T>G (p.Val12660Gly)
c.37898T>G (p.Val12633Gly)
c.19661T>G (p.Val6554Gly)
c.9515T>G (p.Val3172Gly)
2g.178618784A>GCA1995170TTN,TTN-AS1c.39062T>C (p.Val13021Ala)
c.20147T>C (p.Val6716Ala)
c.19946T>C (p.Val6649Ala)
c.19571T>C (p.Val6524Ala)
c.46766T>C (p.Val15589Ala)
c.41843T>C (p.Val13948Ala)
n.1605-969A>G
c.45863T>C (p.Val15288Ala)
c.19757T>C (p.Val6586Ala)
c.19616T>C (p.Val6539Ala)
c.45659T>C (p.Val15220Ala)
c.41057T>C (p.Val13686Ala)
c.41054T>C (p.Val13685Ala)
c.38096T>C (p.Val12699Ala)
c.19712T>C (p.Val6571Ala)
c.41207T>C (p.Val13736Ala)
c.41204T>C (p.Val13735Ala)
c.40637T>C (p.Val13546Ala)
c.37979T>C (p.Val12660Ala)
c.37898T>C (p.Val12633Ala)
c.19661T>C (p.Val6554Ala)
c.9515T>C (p.Val3172Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618784A>TCA349622452TTN,TTN-AS1c.39062T>A (p.Val13021Glu)
c.20147T>A (p.Val6716Glu)
c.19946T>A (p.Val6649Glu)
c.19571T>A (p.Val6524Glu)
c.46766T>A (p.Val15589Glu)
c.41843T>A (p.Val13948Glu)
n.1605-969A>T
c.45863T>A (p.Val15288Glu)
c.19757T>A (p.Val6586Glu)
c.19616T>A (p.Val6539Glu)
c.45659T>A (p.Val15220Glu)
c.41057T>A (p.Val13686Glu)
c.41054T>A (p.Val13685Glu)
c.38096T>A (p.Val12699Glu)
c.19712T>A (p.Val6571Glu)
c.41207T>A (p.Val13736Glu)
c.41204T>A (p.Val13735Glu)
c.40637T>A (p.Val13546Glu)
c.37979T>A (p.Val12660Glu)
c.37898T>A (p.Val12633Glu)
c.19661T>A (p.Val6554Glu)
c.9515T>A (p.Val3172Glu)
2g.178618785C>ACA349622454TTN,TTN-AS1c.39061G>T (p.Val13021Leu)
c.20146G>T (p.Val6716Leu)
c.19945G>T (p.Val6649Leu)
c.19570G>T (p.Val6524Leu)
c.46765G>T (p.Val15589Leu)
c.41842G>T (p.Val13948Leu)
n.1605-968C>A
c.45862G>T (p.Val15288Leu)
c.19756G>T (p.Val6586Leu)
c.19615G>T (p.Val6539Leu)
c.45658G>T (p.Val15220Leu)
c.41056G>T (p.Val13686Leu)
c.41053G>T (p.Val13685Leu)
c.38095G>T (p.Val12699Leu)
c.19711G>T (p.Val6571Leu)
c.41206G>T (p.Val13736Leu)
c.41203G>T (p.Val13735Leu)
c.40636G>T (p.Val13546Leu)
c.37978G>T (p.Val12660Leu)
c.37897G>T (p.Val12633Leu)
c.19660G>T (p.Val6554Leu)
c.9514G>T (p.Val3172Leu)
 dbSNP gnomAD v4
2g.178618785C=CA1310551177TTN,TTN-AS1c.39061G= (p.Val13021=)
c.20146G= (p.Val6716=)
c.19945G= (p.Val6649=)
c.19570G= (p.Val6524=)
c.46765G= (p.Val15589=)
c.41842G= (p.Val13948=)
n.1605-968C=
c.45862G= (p.Val15288=)
c.19756G= (p.Val6586=)
c.19615G= (p.Val6539=)
c.45658G= (p.Val15220=)
c.41056G= (p.Val13686=)
c.41053G= (p.Val13685=)
c.38095G= (p.Val12699=)
c.19711G= (p.Val6571=)
c.41206G= (p.Val13736=)
c.41203G= (p.Val13735=)
c.40636G= (p.Val13546=)
c.37978G= (p.Val12660=)
c.37897G= (p.Val12633=)
c.19660G= (p.Val6554=)
c.9514G= (p.Val3172=)
2g.178618785C>GCA349622456TTN,TTN-AS1c.39061G>C (p.Val13021Leu)
c.20146G>C (p.Val6716Leu)
c.19945G>C (p.Val6649Leu)
c.19570G>C (p.Val6524Leu)
c.46765G>C (p.Val15589Leu)
c.41842G>C (p.Val13948Leu)
n.1605-968C>G
c.45862G>C (p.Val15288Leu)
c.19756G>C (p.Val6586Leu)
c.19615G>C (p.Val6539Leu)
c.45658G>C (p.Val15220Leu)
c.41056G>C (p.Val13686Leu)
c.41053G>C (p.Val13685Leu)
c.38095G>C (p.Val12699Leu)
c.19711G>C (p.Val6571Leu)
c.41206G>C (p.Val13736Leu)
c.41203G>C (p.Val13735Leu)
c.40636G>C (p.Val13546Leu)
c.37978G>C (p.Val12660Leu)
c.37897G>C (p.Val12633Leu)
c.19660G>C (p.Val6554Leu)
c.9514G>C (p.Val3172Leu)
2g.178618785C>TCA349622458TTN,TTN-AS1c.39061G>A (p.Val13021Met)
c.20146G>A (p.Val6716Met)
c.19945G>A (p.Val6649Met)
c.19570G>A (p.Val6524Met)
c.46765G>A (p.Val15589Met)
c.41842G>A (p.Val13948Met)
n.1605-968C>T
c.45862G>A (p.Val15288Met)
c.19756G>A (p.Val6586Met)
c.19615G>A (p.Val6539Met)
c.45658G>A (p.Val15220Met)
c.41056G>A (p.Val13686Met)
c.41053G>A (p.Val13685Met)
c.38095G>A (p.Val12699Met)
c.19711G>A (p.Val6571Met)
c.41206G>A (p.Val13736Met)
c.41203G>A (p.Val13735Met)
c.40636G>A (p.Val13546Met)
c.37978G>A (p.Val12660Met)
c.37897G>A (p.Val12633Met)
c.19660G>A (p.Val6554Met)
c.9514G>A (p.Val3172Met)
2g.178618786C>ACA430108425TTN,TTN-AS1c.39060G>T (p.Val13020=)
c.20145G>T (p.Val6715=)
c.19944G>T (p.Val6648=)
c.19569G>T (p.Val6523=)
c.46764G>T (p.Val15588=)
c.41841G>T (p.Val13947=)
n.1605-967C>A
c.45861G>T (p.Val15287=)
c.19755G>T (p.Val6585=)
c.19614G>T (p.Val6538=)
c.45657G>T (p.Val15219=)
c.41055G>T (p.Val13685=)
c.41052G>T (p.Val13684=)
c.38094G>T (p.Val12698=)
c.19710G>T (p.Val6570=)
c.41205G>T (p.Val13735=)
c.41202G>T (p.Val13734=)
c.40635G>T (p.Val13545=)
c.37977G>T (p.Val12659=)
c.37896G>T (p.Val12632=)
c.19659G>T (p.Val6553=)
c.9513G>T (p.Val3171=)
2g.178618786C>GCA430108427TTN,TTN-AS1c.39060G>C (p.Val13020=)
c.20145G>C (p.Val6715=)
c.19944G>C (p.Val6648=)
c.19569G>C (p.Val6523=)
c.46764G>C (p.Val15588=)
c.41841G>C (p.Val13947=)
n.1605-967C>G
c.45861G>C (p.Val15287=)
c.19755G>C (p.Val6585=)
c.19614G>C (p.Val6538=)
c.45657G>C (p.Val15219=)
c.41055G>C (p.Val13685=)
c.41052G>C (p.Val13684=)
c.38094G>C (p.Val12698=)
c.19710G>C (p.Val6570=)
c.41205G>C (p.Val13735=)
c.41202G>C (p.Val13734=)
c.40635G>C (p.Val13545=)
c.37977G>C (p.Val12659=)
c.37896G>C (p.Val12632=)
c.19659G>C (p.Val6553=)
c.9513G>C (p.Val3171=)
2g.178618786C>TCA430108429TTN,TTN-AS1c.39060G>A (p.Val13020=)
c.20145G>A (p.Val6715=)
c.19944G>A (p.Val6648=)
c.19569G>A (p.Val6523=)
c.46764G>A (p.Val15588=)
c.41841G>A (p.Val13947=)
n.1605-967C>T
c.45861G>A (p.Val15287=)
c.19755G>A (p.Val6585=)
c.19614G>A (p.Val6538=)
c.45657G>A (p.Val15219=)
c.41055G>A (p.Val13685=)
c.41052G>A (p.Val13684=)
c.38094G>A (p.Val12698=)
c.19710G>A (p.Val6570=)
c.41205G>A (p.Val13735=)
c.41202G>A (p.Val13734=)
c.40635G>A (p.Val13545=)
c.37977G>A (p.Val12659=)
c.37896G>A (p.Val12632=)
c.19659G>A (p.Val6553=)
c.9513G>A (p.Val3171=)
 gnomAD v4
2g.178618787A=CA1310551178TTN,TTN-AS1c.39059T= (p.Val13020=)
c.20144T= (p.Val6715=)
c.19943T= (p.Val6648=)
c.19568T= (p.Val6523=)
c.46763T= (p.Val15588=)
c.41840T= (p.Val13947=)
n.1605-966A=
c.45860T= (p.Val15287=)
c.19754T= (p.Val6585=)
c.19613T= (p.Val6538=)
c.45656T= (p.Val15219=)
c.41054T= (p.Val13685=)
c.41051T= (p.Val13684=)
c.38093T= (p.Val12698=)
c.19709T= (p.Val6570=)
c.41204T= (p.Val13735=)
c.41201T= (p.Val13734=)
c.40634T= (p.Val13545=)
c.37976T= (p.Val12659=)
c.37895T= (p.Val12632=)
c.19658T= (p.Val6553=)
c.9512T= (p.Val3171=)
2g.178618787A>CCA349622461TTN,TTN-AS1c.39059T>G (p.Val13020Gly)
c.20144T>G (p.Val6715Gly)
c.19943T>G (p.Val6648Gly)
c.19568T>G (p.Val6523Gly)
c.46763T>G (p.Val15588Gly)
c.41840T>G (p.Val13947Gly)
n.1605-966A>C
c.45860T>G (p.Val15287Gly)
c.19754T>G (p.Val6585Gly)
c.19613T>G (p.Val6538Gly)
c.45656T>G (p.Val15219Gly)
c.41054T>G (p.Val13685Gly)
c.41051T>G (p.Val13684Gly)
c.38093T>G (p.Val12698Gly)
c.19709T>G (p.Val6570Gly)
c.41204T>G (p.Val13735Gly)
c.41201T>G (p.Val13734Gly)
c.40634T>G (p.Val13545Gly)
c.37976T>G (p.Val12659Gly)
c.37895T>G (p.Val12632Gly)
c.19658T>G (p.Val6553Gly)
c.9512T>G (p.Val3171Gly)
2g.178618787A>GCA349622463TTN,TTN-AS1c.39059T>C (p.Val13020Ala)
c.20144T>C (p.Val6715Ala)
c.19943T>C (p.Val6648Ala)
c.19568T>C (p.Val6523Ala)
c.46763T>C (p.Val15588Ala)
c.41840T>C (p.Val13947Ala)
n.1605-966A>G
c.45860T>C (p.Val15287Ala)
c.19754T>C (p.Val6585Ala)
c.19613T>C (p.Val6538Ala)
c.45656T>C (p.Val15219Ala)
c.41054T>C (p.Val13685Ala)
c.41051T>C (p.Val13684Ala)
c.38093T>C (p.Val12698Ala)
c.19709T>C (p.Val6570Ala)
c.41204T>C (p.Val13735Ala)
c.41201T>C (p.Val13734Ala)
c.40634T>C (p.Val13545Ala)
c.37976T>C (p.Val12659Ala)
c.37895T>C (p.Val12632Ala)
c.19658T>C (p.Val6553Ala)
c.9512T>C (p.Val3171Ala)
 gnomAD v4
2g.178618787A>TCA349622465TTN,TTN-AS1c.39059T>A (p.Val13020Glu)
c.20144T>A (p.Val6715Glu)
c.19943T>A (p.Val6648Glu)
c.19568T>A (p.Val6523Glu)
c.46763T>A (p.Val15588Glu)
c.41840T>A (p.Val13947Glu)
n.1605-966A>T
c.45860T>A (p.Val15287Glu)
c.19754T>A (p.Val6585Glu)
c.19613T>A (p.Val6538Glu)
c.45656T>A (p.Val15219Glu)
c.41054T>A (p.Val13685Glu)
c.41051T>A (p.Val13684Glu)
c.38093T>A (p.Val12698Glu)
c.19709T>A (p.Val6570Glu)
c.41204T>A (p.Val13735Glu)
c.41201T>A (p.Val13734Glu)
c.40634T>A (p.Val13545Glu)
c.37976T>A (p.Val12659Glu)
c.37895T>A (p.Val12632Glu)
c.19658T>A (p.Val6553Glu)
c.9512T>A (p.Val3171Glu)
 dbSNP
2g.178618788C>ACA349622468TTN,TTN-AS1c.39058G>T (p.Val13020Leu)
c.20143G>T (p.Val6715Leu)
c.19942G>T (p.Val6648Leu)
c.19567G>T (p.Val6523Leu)
c.46762G>T (p.Val15588Leu)
c.41839G>T (p.Val13947Leu)
n.1605-965C>A
c.45859G>T (p.Val15287Leu)
c.19753G>T (p.Val6585Leu)
c.19612G>T (p.Val6538Leu)
c.45655G>T (p.Val15219Leu)
c.41053G>T (p.Val13685Leu)
c.41050G>T (p.Val13684Leu)
c.38092G>T (p.Val12698Leu)
c.19708G>T (p.Val6570Leu)
c.41203G>T (p.Val13735Leu)
c.41200G>T (p.Val13734Leu)
c.40633G>T (p.Val13545Leu)
c.37975G>T (p.Val12659Leu)
c.37894G>T (p.Val12632Leu)
c.19657G>T (p.Val6553Leu)
c.9511G>T (p.Val3171Leu)
2g.178618788C=CA1310551179TTN,TTN-AS1c.39058G= (p.Val13020=)
c.20143G= (p.Val6715=)
c.19942G= (p.Val6648=)
c.19567G= (p.Val6523=)
c.46762G= (p.Val15588=)
c.41839G= (p.Val13947=)
n.1605-965C=
c.45859G= (p.Val15287=)
c.19753G= (p.Val6585=)
c.19612G= (p.Val6538=)
c.45655G= (p.Val15219=)
c.41053G= (p.Val13685=)
c.41050G= (p.Val13684=)
c.38092G= (p.Val12698=)
c.19708G= (p.Val6570=)
c.41203G= (p.Val13735=)
c.41200G= (p.Val13734=)
c.40633G= (p.Val13545=)
c.37975G= (p.Val12659=)
c.37894G= (p.Val12632=)
c.19657G= (p.Val6553=)
c.9511G= (p.Val3171=)
2g.178618788C>GCA349622467TTN,TTN-AS1c.39058G>C (p.Val13020Leu)
c.20143G>C (p.Val6715Leu)
c.19942G>C (p.Val6648Leu)
c.19567G>C (p.Val6523Leu)
c.46762G>C (p.Val15588Leu)
c.41839G>C (p.Val13947Leu)
n.1605-965C>G
c.45859G>C (p.Val15287Leu)
c.19753G>C (p.Val6585Leu)
c.19612G>C (p.Val6538Leu)
c.45655G>C (p.Val15219Leu)
c.41053G>C (p.Val13685Leu)
c.41050G>C (p.Val13684Leu)
c.38092G>C (p.Val12698Leu)
c.19708G>C (p.Val6570Leu)
c.41203G>C (p.Val13735Leu)
c.41200G>C (p.Val13734Leu)
c.40633G>C (p.Val13545Leu)
c.37975G>C (p.Val12659Leu)
c.37894G>C (p.Val12632Leu)
c.19657G>C (p.Val6553Leu)
c.9511G>C (p.Val3171Leu)
2g.178618788C>TCA1995171TTN,TTN-AS1c.39058G>A (p.Val13020Met)
c.20143G>A (p.Val6715Met)
c.19942G>A (p.Val6648Met)
c.19567G>A (p.Val6523Met)
c.46762G>A (p.Val15588Met)
c.41839G>A (p.Val13947Met)
n.1605-965C>T
c.45859G>A (p.Val15287Met)
c.19753G>A (p.Val6585Met)
c.19612G>A (p.Val6538Met)
c.45655G>A (p.Val15219Met)
c.41053G>A (p.Val13685Met)
c.41050G>A (p.Val13684Met)
c.38092G>A (p.Val12698Met)
c.19708G>A (p.Val6570Met)
c.41203G>A (p.Val13735Met)
c.41200G>A (p.Val13734Met)
c.40633G>A (p.Val13545Met)
c.37975G>A (p.Val12659Met)
c.37894G>A (p.Val12632Met)
c.19657G>A (p.Val6553Met)
c.9511G>A (p.Val3171Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618789C>ACA349622470TTN,TTN-AS1c.39057G>T (p.Met13019Ile)
c.20142G>T (p.Met6714Ile)
c.19941G>T (p.Met6647Ile)
c.19566G>T (p.Met6522Ile)
c.46761G>T (p.Met15587Ile)
c.41838G>T (p.Met13946Ile)
n.1605-964C>A
c.45858G>T (p.Met15286Ile)
c.19752G>T (p.Met6584Ile)
c.19611G>T (p.Met6537Ile)
c.45654G>T (p.Met15218Ile)
c.41052G>T (p.Met13684Ile)
c.41049G>T (p.Met13683Ile)
c.38091G>T (p.Met12697Ile)
c.19707G>T (p.Met6569Ile)
c.41202G>T (p.Met13734Ile)
c.41199G>T (p.Met13733Ile)
c.40632G>T (p.Met13544Ile)
c.37974G>T (p.Met12658Ile)
c.37893G>T (p.Met12631Ile)
c.19656G>T (p.Met6552Ile)
c.9510G>T (p.Met3170Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178618789C=CA1310551180TTN,TTN-AS1c.39057G= (p.Met13019=)
c.20142G= (p.Met6714=)
c.19941G= (p.Met6647=)
c.19566G= (p.Met6522=)
c.46761G= (p.Met15587=)
c.41838G= (p.Met13946=)
n.1605-964C=
c.45858G= (p.Met15286=)
c.19752G= (p.Met6584=)
c.19611G= (p.Met6537=)
c.45654G= (p.Met15218=)
c.41052G= (p.Met13684=)
c.41049G= (p.Met13683=)
c.38091G= (p.Met12697=)
c.19707G= (p.Met6569=)
c.41202G= (p.Met13734=)
c.41199G= (p.Met13733=)
c.40632G= (p.Met13544=)
c.37974G= (p.Met12658=)
c.37893G= (p.Met12631=)
c.19656G= (p.Met6552=)
c.9510G= (p.Met3170=)
2g.178618789C>GCA349622472TTN,TTN-AS1c.39057G>C (p.Met13019Ile)
c.20142G>C (p.Met6714Ile)
c.19941G>C (p.Met6647Ile)
c.19566G>C (p.Met6522Ile)
c.46761G>C (p.Met15587Ile)
c.41838G>C (p.Met13946Ile)
n.1605-964C>G
c.45858G>C (p.Met15286Ile)
c.19752G>C (p.Met6584Ile)
c.19611G>C (p.Met6537Ile)
c.45654G>C (p.Met15218Ile)
c.41052G>C (p.Met13684Ile)
c.41049G>C (p.Met13683Ile)
c.38091G>C (p.Met12697Ile)
c.19707G>C (p.Met6569Ile)
c.41202G>C (p.Met13734Ile)
c.41199G>C (p.Met13733Ile)
c.40632G>C (p.Met13544Ile)
c.37974G>C (p.Met12658Ile)
c.37893G>C (p.Met12631Ile)
c.19656G>C (p.Met6552Ile)
c.9510G>C (p.Met3170Ile)
2g.178618789C>TCA1995172TTN,TTN-AS1c.39057G>A (p.Met13019Ile)
c.20142G>A (p.Met6714Ile)
c.19941G>A (p.Met6647Ile)
c.19566G>A (p.Met6522Ile)
c.46761G>A (p.Met15587Ile)
c.41838G>A (p.Met13946Ile)
n.1605-964C>T
c.45858G>A (p.Met15286Ile)
c.19752G>A (p.Met6584Ile)
c.19611G>A (p.Met6537Ile)
c.45654G>A (p.Met15218Ile)
c.41052G>A (p.Met13684Ile)
c.41049G>A (p.Met13683Ile)
c.38091G>A (p.Met12697Ile)
c.19707G>A (p.Met6569Ile)
c.41202G>A (p.Met13734Ile)
c.41199G>A (p.Met13733Ile)
c.40632G>A (p.Met13544Ile)
c.37974G>A (p.Met12658Ile)
c.37893G>A (p.Met12631Ile)
c.19656G>A (p.Met6552Ile)
c.9510G>A (p.Met3170Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618790A>CCA349622475TTN,TTN-AS1c.39056T>G (p.Met13019Arg)
c.20141T>G (p.Met6714Arg)
c.19940T>G (p.Met6647Arg)
c.19565T>G (p.Met6522Arg)
c.46760T>G (p.Met15587Arg)
c.41837T>G (p.Met13946Arg)
n.1605-963A>C
c.45857T>G (p.Met15286Arg)
c.19751T>G (p.Met6584Arg)
c.19610T>G (p.Met6537Arg)
c.45653T>G (p.Met15218Arg)
c.41051T>G (p.Met13684Arg)
c.41048T>G (p.Met13683Arg)
c.38090T>G (p.Met12697Arg)
c.19706T>G (p.Met6569Arg)
c.41201T>G (p.Met13734Arg)
c.41198T>G (p.Met13733Arg)
c.40631T>G (p.Met13544Arg)
c.37973T>G (p.Met12658Arg)
c.37892T>G (p.Met12631Arg)
c.19655T>G (p.Met6552Arg)
c.9509T>G (p.Met3170Arg)

Number of alleles fetched