Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178566429T>ACA349594282TTN,TTN-AS1c.71999A>T (p.Lys24000Ile)
c.53084A>T (p.Lys17695Ile)
c.52883A>T (p.Lys17628Ile)
c.52508A>T (p.Lys17503Ile)
c.79703A>T (p.Lys26568Ile)
c.74780A>T (p.Lys24927Ile)
n.447-4871T>A
n.2044-16143T>A
c.78800A>T (p.Lys26267Ile)
c.52694A>T (p.Lys17565Ile)
c.52553A>T (p.Lys17518Ile)
c.78596A>T (p.Lys26199Ile)
c.73994A>T (p.Lys24665Ile)
c.73991A>T (p.Lys24664Ile)
c.71033A>T (p.Lys23678Ile)
c.52649A>T (p.Lys17550Ile)
c.74144A>T (p.Lys24715Ile)
c.74141A>T (p.Lys24714Ile)
c.73574A>T (p.Lys24525Ile)
c.70916A>T (p.Lys23639Ile)
c.70835A>T (p.Lys23612Ile)
c.52598A>T (p.Lys17533Ile)
c.42452A>T (p.Lys14151Ile)
2g.178566429T>CCA349594284TTN,TTN-AS1c.71999A>G (p.Lys24000Arg)
c.53084A>G (p.Lys17695Arg)
c.52883A>G (p.Lys17628Arg)
c.52508A>G (p.Lys17503Arg)
c.79703A>G (p.Lys26568Arg)
c.74780A>G (p.Lys24927Arg)
n.447-4871T>C
n.2044-16143T>C
c.78800A>G (p.Lys26267Arg)
c.52694A>G (p.Lys17565Arg)
c.52553A>G (p.Lys17518Arg)
c.78596A>G (p.Lys26199Arg)
c.73994A>G (p.Lys24665Arg)
c.73991A>G (p.Lys24664Arg)
c.71033A>G (p.Lys23678Arg)
c.52649A>G (p.Lys17550Arg)
c.74144A>G (p.Lys24715Arg)
c.74141A>G (p.Lys24714Arg)
c.73574A>G (p.Lys24525Arg)
c.70916A>G (p.Lys23639Arg)
c.70835A>G (p.Lys23612Arg)
c.52598A>G (p.Lys17533Arg)
c.42452A>G (p.Lys14151Arg)
2g.178566429T>GCA349594286TTN,TTN-AS1c.71999A>C (p.Lys24000Thr)
c.53084A>C (p.Lys17695Thr)
c.52883A>C (p.Lys17628Thr)
c.52508A>C (p.Lys17503Thr)
c.79703A>C (p.Lys26568Thr)
c.74780A>C (p.Lys24927Thr)
n.447-4871T>G
n.2044-16143T>G
c.78800A>C (p.Lys26267Thr)
c.52694A>C (p.Lys17565Thr)
c.52553A>C (p.Lys17518Thr)
c.78596A>C (p.Lys26199Thr)
c.73994A>C (p.Lys24665Thr)
c.73991A>C (p.Lys24664Thr)
c.71033A>C (p.Lys23678Thr)
c.52649A>C (p.Lys17550Thr)
c.74144A>C (p.Lys24715Thr)
c.74141A>C (p.Lys24714Thr)
c.73574A>C (p.Lys24525Thr)
c.70916A>C (p.Lys23639Thr)
c.70835A>C (p.Lys23612Thr)
c.52598A>C (p.Lys17533Thr)
c.42452A>C (p.Lys14151Thr)
2g.178566430T>ACA349594287TTN,TTN-AS1c.71998A>T (p.Lys24000Ter)
c.53083A>T (p.Lys17695Ter)
c.52882A>T (p.Lys17628Ter)
c.52507A>T (p.Lys17503Ter)
c.79702A>T (p.Lys26568Ter)
c.74779A>T (p.Lys24927Ter)
n.447-4870T>A
n.2044-16142T>A
c.78799A>T (p.Lys26267Ter)
c.52693A>T (p.Lys17565Ter)
c.52552A>T (p.Lys17518Ter)
c.78595A>T (p.Lys26199Ter)
c.73993A>T (p.Lys24665Ter)
c.73990A>T (p.Lys24664Ter)
c.71032A>T (p.Lys23678Ter)
c.52648A>T (p.Lys17550Ter)
c.74143A>T (p.Lys24715Ter)
c.74140A>T (p.Lys24714Ter)
c.73573A>T (p.Lys24525Ter)
c.70915A>T (p.Lys23639Ter)
c.70834A>T (p.Lys23612Ter)
c.52597A>T (p.Lys17533Ter)
c.42451A>T (p.Lys14151Ter)
2g.178566430T>CCA1989441TTN,TTN-AS1c.71998A>G (p.Lys24000Glu)
c.53083A>G (p.Lys17695Glu)
c.52882A>G (p.Lys17628Glu)
c.52507A>G (p.Lys17503Glu)
c.79702A>G (p.Lys26568Glu)
c.74779A>G (p.Lys24927Glu)
n.447-4870T>C
n.2044-16142T>C
c.78799A>G (p.Lys26267Glu)
c.52693A>G (p.Lys17565Glu)
c.52552A>G (p.Lys17518Glu)
c.78595A>G (p.Lys26199Glu)
c.73993A>G (p.Lys24665Glu)
c.73990A>G (p.Lys24664Glu)
c.71032A>G (p.Lys23678Glu)
c.52648A>G (p.Lys17550Glu)
c.74143A>G (p.Lys24715Glu)
c.74140A>G (p.Lys24714Glu)
c.73573A>G (p.Lys24525Glu)
c.70915A>G (p.Lys23639Glu)
c.70834A>G (p.Lys23612Glu)
c.52597A>G (p.Lys17533Glu)
c.42451A>G (p.Lys14151Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178566430T>GCA349594289TTN,TTN-AS1c.71998A>C (p.Lys24000Gln)
c.53083A>C (p.Lys17695Gln)
c.52882A>C (p.Lys17628Gln)
c.52507A>C (p.Lys17503Gln)
c.79702A>C (p.Lys26568Gln)
c.74779A>C (p.Lys24927Gln)
n.447-4870T>G
n.2044-16142T>G
c.78799A>C (p.Lys26267Gln)
c.52693A>C (p.Lys17565Gln)
c.52552A>C (p.Lys17518Gln)
c.78595A>C (p.Lys26199Gln)
c.73993A>C (p.Lys24665Gln)
c.73990A>C (p.Lys24664Gln)
c.71032A>C (p.Lys23678Gln)
c.52648A>C (p.Lys17550Gln)
c.74143A>C (p.Lys24715Gln)
c.74140A>C (p.Lys24714Gln)
c.73573A>C (p.Lys24525Gln)
c.70915A>C (p.Lys23639Gln)
c.70834A>C (p.Lys23612Gln)
c.52597A>C (p.Lys17533Gln)
c.42451A>C (p.Lys14151Gln)
2g.178566430T=CA1310529508TTN,TTN-AS1c.71998A= (p.Lys24000=)
c.53083A= (p.Lys17695=)
c.52882A= (p.Lys17628=)
c.52507A= (p.Lys17503=)
c.79702A= (p.Lys26568=)
c.74779A= (p.Lys24927=)
n.447-4870T=
n.2044-16142T=
c.78799A= (p.Lys26267=)
c.52693A= (p.Lys17565=)
c.52552A= (p.Lys17518=)
c.78595A= (p.Lys26199=)
c.73993A= (p.Lys24665=)
c.73990A= (p.Lys24664=)
c.71032A= (p.Lys23678=)
c.52648A= (p.Lys17550=)
c.74143A= (p.Lys24715=)
c.74140A= (p.Lys24714=)
c.73573A= (p.Lys24525=)
c.70915A= (p.Lys23639=)
c.70834A= (p.Lys23612=)
c.52597A= (p.Lys17533=)
c.42451A= (p.Lys14151=)
2g.178566431G>ACA60989807TTN,TTN-AS1c.71997C>T (p.Asn23999=)
c.53082C>T (p.Asn17694=)
c.52881C>T (p.Asn17627=)
c.52506C>T (p.Asn17502=)
c.79701C>T (p.Asn26567=)
c.74778C>T (p.Asn24926=)
n.447-4869G>A
n.2044-16141G>A
c.78798C>T (p.Asn26266=)
c.52692C>T (p.Asn17564=)
c.52551C>T (p.Asn17517=)
c.78594C>T (p.Asn26198=)
c.73992C>T (p.Asn24664=)
c.73989C>T (p.Asn24663=)
c.71031C>T (p.Asn23677=)
c.52647C>T (p.Asn17549=)
c.74142C>T (p.Asn24714=)
c.74139C>T (p.Asn24713=)
c.73572C>T (p.Asn24524=)
c.70914C>T (p.Asn23638=)
c.70833C>T (p.Asn23611=)
c.52596C>T (p.Asn17532=)
c.42450C>T (p.Asn14150=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178566431G>CCA349594292TTN,TTN-AS1c.71997C>G (p.Asn23999Lys)
c.53082C>G (p.Asn17694Lys)
c.52881C>G (p.Asn17627Lys)
c.52506C>G (p.Asn17502Lys)
c.79701C>G (p.Asn26567Lys)
c.74778C>G (p.Asn24926Lys)
n.447-4869G>C
n.2044-16141G>C
c.78798C>G (p.Asn26266Lys)
c.52692C>G (p.Asn17564Lys)
c.52551C>G (p.Asn17517Lys)
c.78594C>G (p.Asn26198Lys)
c.73992C>G (p.Asn24664Lys)
c.73989C>G (p.Asn24663Lys)
c.71031C>G (p.Asn23677Lys)
c.52647C>G (p.Asn17549Lys)
c.74142C>G (p.Asn24714Lys)
c.74139C>G (p.Asn24713Lys)
c.73572C>G (p.Asn24524Lys)
c.70914C>G (p.Asn23638Lys)
c.70833C>G (p.Asn23611Lys)
c.52596C>G (p.Asn17532Lys)
c.42450C>G (p.Asn14150Lys)
2g.178566431G=CA1310529509TTN,TTN-AS1c.71997C= (p.Asn23999=)
c.53082C= (p.Asn17694=)
c.52881C= (p.Asn17627=)
c.52506C= (p.Asn17502=)
c.79701C= (p.Asn26567=)
c.74778C= (p.Asn24926=)
n.447-4869G=
n.2044-16141G=
c.78798C= (p.Asn26266=)
c.52692C= (p.Asn17564=)
c.52551C= (p.Asn17517=)
c.78594C= (p.Asn26198=)
c.73992C= (p.Asn24664=)
c.73989C= (p.Asn24663=)
c.71031C= (p.Asn23677=)
c.52647C= (p.Asn17549=)
c.74142C= (p.Asn24714=)
c.74139C= (p.Asn24713=)
c.73572C= (p.Asn24524=)
c.70914C= (p.Asn23638=)
c.70833C= (p.Asn23611=)
c.52596C= (p.Asn17532=)
c.42450C= (p.Asn14150=)
2g.178566431G>TCA349594294TTN,TTN-AS1c.71997C>A (p.Asn23999Lys)
c.53082C>A (p.Asn17694Lys)
c.52881C>A (p.Asn17627Lys)
c.52506C>A (p.Asn17502Lys)
c.79701C>A (p.Asn26567Lys)
c.74778C>A (p.Asn24926Lys)
n.447-4869G>T
n.2044-16141G>T
c.78798C>A (p.Asn26266Lys)
c.52692C>A (p.Asn17564Lys)
c.52551C>A (p.Asn17517Lys)
c.78594C>A (p.Asn26198Lys)
c.73992C>A (p.Asn24664Lys)
c.73989C>A (p.Asn24663Lys)
c.71031C>A (p.Asn23677Lys)
c.52647C>A (p.Asn17549Lys)
c.74142C>A (p.Asn24714Lys)
c.74139C>A (p.Asn24713Lys)
c.73572C>A (p.Asn24524Lys)
c.70914C>A (p.Asn23638Lys)
c.70833C>A (p.Asn23611Lys)
c.52596C>A (p.Asn17532Lys)
c.42450C>A (p.Asn14150Lys)
2g.178566432T>ACA349594298TTN,TTN-AS1c.71996A>T (p.Asn23999Ile)
c.53081A>T (p.Asn17694Ile)
c.52880A>T (p.Asn17627Ile)
c.52505A>T (p.Asn17502Ile)
c.79700A>T (p.Asn26567Ile)
c.74777A>T (p.Asn24926Ile)
n.447-4868T>A
n.2044-16140T>A
c.78797A>T (p.Asn26266Ile)
c.52691A>T (p.Asn17564Ile)
c.52550A>T (p.Asn17517Ile)
c.78593A>T (p.Asn26198Ile)
c.73991A>T (p.Asn24664Ile)
c.73988A>T (p.Asn24663Ile)
c.71030A>T (p.Asn23677Ile)
c.52646A>T (p.Asn17549Ile)
c.74141A>T (p.Asn24714Ile)
c.74138A>T (p.Asn24713Ile)
c.73571A>T (p.Asn24524Ile)
c.70913A>T (p.Asn23638Ile)
c.70832A>T (p.Asn23611Ile)
c.52595A>T (p.Asn17532Ile)
c.42449A>T (p.Asn14150Ile)
 gnomAD v4
2g.178566432T>CCA310611TTN,TTN-AS1c.71996A>G (p.Asn23999Ser)
c.53081A>G (p.Asn17694Ser)
c.52880A>G (p.Asn17627Ser)
c.52505A>G (p.Asn17502Ser)
c.79700A>G (p.Asn26567Ser)
c.74777A>G (p.Asn24926Ser)
n.447-4868T>C
n.2044-16140T>C
c.78797A>G (p.Asn26266Ser)
c.52691A>G (p.Asn17564Ser)
c.52550A>G (p.Asn17517Ser)
c.78593A>G (p.Asn26198Ser)
c.73991A>G (p.Asn24664Ser)
c.73988A>G (p.Asn24663Ser)
c.71030A>G (p.Asn23677Ser)
c.52646A>G (p.Asn17549Ser)
c.74141A>G (p.Asn24714Ser)
c.74138A>G (p.Asn24713Ser)
c.73571A>G (p.Asn24524Ser)
c.70913A>G (p.Asn23638Ser)
c.70832A>G (p.Asn23611Ser)
c.52595A>G (p.Asn17532Ser)
c.42449A>G (p.Asn14150Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566432T>GCA349594296TTN,TTN-AS1c.71996A>C (p.Asn23999Thr)
c.53081A>C (p.Asn17694Thr)
c.52880A>C (p.Asn17627Thr)
c.52505A>C (p.Asn17502Thr)
c.79700A>C (p.Asn26567Thr)
c.74777A>C (p.Asn24926Thr)
n.447-4868T>G
n.2044-16140T>G
c.78797A>C (p.Asn26266Thr)
c.52691A>C (p.Asn17564Thr)
c.52550A>C (p.Asn17517Thr)
c.78593A>C (p.Asn26198Thr)
c.73991A>C (p.Asn24664Thr)
c.73988A>C (p.Asn24663Thr)
c.71030A>C (p.Asn23677Thr)
c.52646A>C (p.Asn17549Thr)
c.74141A>C (p.Asn24714Thr)
c.74138A>C (p.Asn24713Thr)
c.73571A>C (p.Asn24524Thr)
c.70913A>C (p.Asn23638Thr)
c.70832A>C (p.Asn23611Thr)
c.52595A>C (p.Asn17532Thr)
c.42449A>C (p.Asn14150Thr)
2g.178566432T=CA1310529510TTN,TTN-AS1c.71996A= (p.Asn23999=)
c.53081A= (p.Asn17694=)
c.52880A= (p.Asn17627=)
c.52505A= (p.Asn17502=)
c.79700A= (p.Asn26567=)
c.74777A= (p.Asn24926=)
n.447-4868T=
n.2044-16140T=
c.78797A= (p.Asn26266=)
c.52691A= (p.Asn17564=)
c.52550A= (p.Asn17517=)
c.78593A= (p.Asn26198=)
c.73991A= (p.Asn24664=)
c.73988A= (p.Asn24663=)
c.71030A= (p.Asn23677=)
c.52646A= (p.Asn17549=)
c.74141A= (p.Asn24714=)
c.74138A= (p.Asn24713=)
c.73571A= (p.Asn24524=)
c.70913A= (p.Asn23638=)
c.70832A= (p.Asn23611=)
c.52595A= (p.Asn17532=)
c.42449A= (p.Asn14150=)
2g.178566433T>ACA349594300TTN,TTN-AS1c.71995A>T (p.Asn23999Tyr)
c.53080A>T (p.Asn17694Tyr)
c.52879A>T (p.Asn17627Tyr)
c.52504A>T (p.Asn17502Tyr)
c.79699A>T (p.Asn26567Tyr)
c.74776A>T (p.Asn24926Tyr)
n.447-4867T>A
n.2044-16139T>A
c.78796A>T (p.Asn26266Tyr)
c.52690A>T (p.Asn17564Tyr)
c.52549A>T (p.Asn17517Tyr)
c.78592A>T (p.Asn26198Tyr)
c.73990A>T (p.Asn24664Tyr)
c.73987A>T (p.Asn24663Tyr)
c.71029A>T (p.Asn23677Tyr)
c.52645A>T (p.Asn17549Tyr)
c.74140A>T (p.Asn24714Tyr)
c.74137A>T (p.Asn24713Tyr)
c.73570A>T (p.Asn24524Tyr)
c.70912A>T (p.Asn23638Tyr)
c.70831A>T (p.Asn23611Tyr)
c.52594A>T (p.Asn17532Tyr)
c.42448A>T (p.Asn14150Tyr)
2g.178566433T>CCA238474TTN,TTN-AS1c.71995A>G (p.Asn23999Asp)
c.53080A>G (p.Asn17694Asp)
c.52879A>G (p.Asn17627Asp)
c.52504A>G (p.Asn17502Asp)
c.79699A>G (p.Asn26567Asp)
c.74776A>G (p.Asn24926Asp)
n.447-4867T>C
n.2044-16139T>C
c.78796A>G (p.Asn26266Asp)
c.52690A>G (p.Asn17564Asp)
c.52549A>G (p.Asn17517Asp)
c.78592A>G (p.Asn26198Asp)
c.73990A>G (p.Asn24664Asp)
c.73987A>G (p.Asn24663Asp)
c.71029A>G (p.Asn23677Asp)
c.52645A>G (p.Asn17549Asp)
c.74140A>G (p.Asn24714Asp)
c.74137A>G (p.Asn24713Asp)
c.73570A>G (p.Asn24524Asp)
c.70912A>G (p.Asn23638Asp)
c.70831A>G (p.Asn23611Asp)
c.52594A>G (p.Asn17532Asp)
c.42448A>G (p.Asn14150Asp)
 ClinVar dbSNP
2g.178566433T>GCA349594303TTN,TTN-AS1c.71995A>C (p.Asn23999His)
c.53080A>C (p.Asn17694His)
c.52879A>C (p.Asn17627His)
c.52504A>C (p.Asn17502His)
c.79699A>C (p.Asn26567His)
c.74776A>C (p.Asn24926His)
n.447-4867T>G
n.2044-16139T>G
c.78796A>C (p.Asn26266His)
c.52690A>C (p.Asn17564His)
c.52549A>C (p.Asn17517His)
c.78592A>C (p.Asn26198His)
c.73990A>C (p.Asn24664His)
c.73987A>C (p.Asn24663His)
c.71029A>C (p.Asn23677His)
c.52645A>C (p.Asn17549His)
c.74140A>C (p.Asn24714His)
c.74137A>C (p.Asn24713His)
c.73570A>C (p.Asn24524His)
c.70912A>C (p.Asn23638His)
c.70831A>C (p.Asn23611His)
c.52594A>C (p.Asn17532His)
c.42448A>C (p.Asn14150His)
2g.178566433T=CA1310529511TTN,TTN-AS1c.71995A= (p.Asn23999=)
c.53080A= (p.Asn17694=)
c.52879A= (p.Asn17627=)
c.52504A= (p.Asn17502=)
c.79699A= (p.Asn26567=)
c.74776A= (p.Asn24926=)
n.447-4867T=
n.2044-16139T=
c.78796A= (p.Asn26266=)
c.52690A= (p.Asn17564=)
c.52549A= (p.Asn17517=)
c.78592A= (p.Asn26198=)
c.73990A= (p.Asn24664=)
c.73987A= (p.Asn24663=)
c.71029A= (p.Asn23677=)
c.52645A= (p.Asn17549=)
c.74140A= (p.Asn24714=)
c.74137A= (p.Asn24713=)
c.73570A= (p.Asn24524=)
c.70912A= (p.Asn23638=)
c.70831A= (p.Asn23611=)
c.52594A= (p.Asn17532=)
c.42448A= (p.Asn14150=)
2g.178566434G>ACA430252101TTN,TTN-AS1c.71994C>T (p.Leu23998=)
c.53079C>T (p.Leu17693=)
c.52878C>T (p.Leu17626=)
c.52503C>T (p.Leu17501=)
c.79698C>T (p.Leu26566=)
c.74775C>T (p.Leu24925=)
n.447-4866G>A
n.2044-16138G>A
c.78795C>T (p.Leu26265=)
c.52689C>T (p.Leu17563=)
c.52548C>T (p.Leu17516=)
c.78591C>T (p.Leu26197=)
c.73989C>T (p.Leu24663=)
c.73986C>T (p.Leu24662=)
c.71028C>T (p.Leu23676=)
c.52644C>T (p.Leu17548=)
c.74139C>T (p.Leu24713=)
c.74136C>T (p.Leu24712=)
c.73569C>T (p.Leu24523=)
c.70911C>T (p.Leu23637=)
c.70830C>T (p.Leu23610=)
c.52593C>T (p.Leu17531=)
c.42447C>T (p.Leu14149=)
 ClinVar dbSNP gnomAD v4
2g.178566434G>CCA430252102TTN,TTN-AS1c.71994C>G (p.Leu23998=)
c.53079C>G (p.Leu17693=)
c.52878C>G (p.Leu17626=)
c.52503C>G (p.Leu17501=)
c.79698C>G (p.Leu26566=)
c.74775C>G (p.Leu24925=)
n.447-4866G>C
n.2044-16138G>C
c.78795C>G (p.Leu26265=)
c.52689C>G (p.Leu17563=)
c.52548C>G (p.Leu17516=)
c.78591C>G (p.Leu26197=)
c.73989C>G (p.Leu24663=)
c.73986C>G (p.Leu24662=)
c.71028C>G (p.Leu23676=)
c.52644C>G (p.Leu17548=)
c.74139C>G (p.Leu24713=)
c.74136C>G (p.Leu24712=)
c.73569C>G (p.Leu24523=)
c.70911C>G (p.Leu23637=)
c.70830C>G (p.Leu23610=)
c.52593C>G (p.Leu17531=)
c.42447C>G (p.Leu14149=)
2g.178566434G=CA1310529512TTN,TTN-AS1c.71994C= (p.Leu23998=)
c.53079C= (p.Leu17693=)
c.52878C= (p.Leu17626=)
c.52503C= (p.Leu17501=)
c.79698C= (p.Leu26566=)
c.74775C= (p.Leu24925=)
n.447-4866G=
n.2044-16138G=
c.78795C= (p.Leu26265=)
c.52689C= (p.Leu17563=)
c.52548C= (p.Leu17516=)
c.78591C= (p.Leu26197=)
c.73989C= (p.Leu24663=)
c.73986C= (p.Leu24662=)
c.71028C= (p.Leu23676=)
c.52644C= (p.Leu17548=)
c.74139C= (p.Leu24713=)
c.74136C= (p.Leu24712=)
c.73569C= (p.Leu24523=)
c.70911C= (p.Leu23637=)
c.70830C= (p.Leu23610=)
c.52593C= (p.Leu17531=)
c.42447C= (p.Leu14149=)
2g.178566434G>TCA430252103TTN,TTN-AS1c.71994C>A (p.Leu23998=)
c.53079C>A (p.Leu17693=)
c.52878C>A (p.Leu17626=)
c.52503C>A (p.Leu17501=)
c.79698C>A (p.Leu26566=)
c.74775C>A (p.Leu24925=)
n.447-4866G>T
n.2044-16138G>T
c.78795C>A (p.Leu26265=)
c.52689C>A (p.Leu17563=)
c.52548C>A (p.Leu17516=)
c.78591C>A (p.Leu26197=)
c.73989C>A (p.Leu24663=)
c.73986C>A (p.Leu24662=)
c.71028C>A (p.Leu23676=)
c.52644C>A (p.Leu17548=)
c.74139C>A (p.Leu24713=)
c.74136C>A (p.Leu24712=)
c.73569C>A (p.Leu24523=)
c.70911C>A (p.Leu23637=)
c.70830C>A (p.Leu23610=)
c.52593C>A (p.Leu17531=)
c.42447C>A (p.Leu14149=)
2g.178566435A>CCA349594306TTN,TTN-AS1c.71993T>G (p.Leu23998Arg)
c.53078T>G (p.Leu17693Arg)
c.52877T>G (p.Leu17626Arg)
c.52502T>G (p.Leu17501Arg)
c.79697T>G (p.Leu26566Arg)
c.74774T>G (p.Leu24925Arg)
n.447-4865A>C
n.2044-16137A>C
c.78794T>G (p.Leu26265Arg)
c.52688T>G (p.Leu17563Arg)
c.52547T>G (p.Leu17516Arg)
c.78590T>G (p.Leu26197Arg)
c.73988T>G (p.Leu24663Arg)
c.73985T>G (p.Leu24662Arg)
c.71027T>G (p.Leu23676Arg)
c.52643T>G (p.Leu17548Arg)
c.74138T>G (p.Leu24713Arg)
c.74135T>G (p.Leu24712Arg)
c.73568T>G (p.Leu24523Arg)
c.70910T>G (p.Leu23637Arg)
c.70829T>G (p.Leu23610Arg)
c.52592T>G (p.Leu17531Arg)
c.42446T>G (p.Leu14149Arg)
2g.178566435A>GCA349594308TTN,TTN-AS1c.71993T>C (p.Leu23998Pro)
c.53078T>C (p.Leu17693Pro)
c.52877T>C (p.Leu17626Pro)
c.52502T>C (p.Leu17501Pro)
c.79697T>C (p.Leu26566Pro)
c.74774T>C (p.Leu24925Pro)
n.447-4865A>G
n.2044-16137A>G
c.78794T>C (p.Leu26265Pro)
c.52688T>C (p.Leu17563Pro)
c.52547T>C (p.Leu17516Pro)
c.78590T>C (p.Leu26197Pro)
c.73988T>C (p.Leu24663Pro)
c.73985T>C (p.Leu24662Pro)
c.71027T>C (p.Leu23676Pro)
c.52643T>C (p.Leu17548Pro)
c.74138T>C (p.Leu24713Pro)
c.74135T>C (p.Leu24712Pro)
c.73568T>C (p.Leu24523Pro)
c.70910T>C (p.Leu23637Pro)
c.70829T>C (p.Leu23610Pro)
c.52592T>C (p.Leu17531Pro)
c.42446T>C (p.Leu14149Pro)
 gnomAD v4
2g.178566435A>TCA349594310TTN,TTN-AS1c.71993T>A (p.Leu23998His)
c.53078T>A (p.Leu17693His)
c.52877T>A (p.Leu17626His)
c.52502T>A (p.Leu17501His)
c.79697T>A (p.Leu26566His)
c.74774T>A (p.Leu24925His)
n.447-4865A>T
n.2044-16137A>T
c.78794T>A (p.Leu26265His)
c.52688T>A (p.Leu17563His)
c.52547T>A (p.Leu17516His)
c.78590T>A (p.Leu26197His)
c.73988T>A (p.Leu24663His)
c.73985T>A (p.Leu24662His)
c.71027T>A (p.Leu23676His)
c.52643T>A (p.Leu17548His)
c.74138T>A (p.Leu24713His)
c.74135T>A (p.Leu24712His)
c.73568T>A (p.Leu24523His)
c.70910T>A (p.Leu23637His)
c.70829T>A (p.Leu23610His)
c.52592T>A (p.Leu17531His)
c.42446T>A (p.Leu14149His)
2g.178566436G>ACA60989815TTN,TTN-AS1c.71992C>T (p.Leu23998Phe)
c.53077C>T (p.Leu17693Phe)
c.52876C>T (p.Leu17626Phe)
c.52501C>T (p.Leu17501Phe)
c.79696C>T (p.Leu26566Phe)
c.74773C>T (p.Leu24925Phe)
n.447-4864G>A
n.2044-16136G>A
c.78793C>T (p.Leu26265Phe)
c.52687C>T (p.Leu17563Phe)
c.52546C>T (p.Leu17516Phe)
c.78589C>T (p.Leu26197Phe)
c.73987C>T (p.Leu24663Phe)
c.73984C>T (p.Leu24662Phe)
c.71026C>T (p.Leu23676Phe)
c.52642C>T (p.Leu17548Phe)
c.74137C>T (p.Leu24713Phe)
c.74134C>T (p.Leu24712Phe)
c.73567C>T (p.Leu24523Phe)
c.70909C>T (p.Leu23637Phe)
c.70828C>T (p.Leu23610Phe)
c.52591C>T (p.Leu17531Phe)
c.42445C>T (p.Leu14149Phe)
 dbSNP
2g.178566436G>CCA349594312TTN,TTN-AS1c.71992C>G (p.Leu23998Val)
c.53077C>G (p.Leu17693Val)
c.52876C>G (p.Leu17626Val)
c.52501C>G (p.Leu17501Val)
c.79696C>G (p.Leu26566Val)
c.74773C>G (p.Leu24925Val)
n.447-4864G>C
n.2044-16136G>C
c.78793C>G (p.Leu26265Val)
c.52687C>G (p.Leu17563Val)
c.52546C>G (p.Leu17516Val)
c.78589C>G (p.Leu26197Val)
c.73987C>G (p.Leu24663Val)
c.73984C>G (p.Leu24662Val)
c.71026C>G (p.Leu23676Val)
c.52642C>G (p.Leu17548Val)
c.74137C>G (p.Leu24713Val)
c.74134C>G (p.Leu24712Val)
c.73567C>G (p.Leu24523Val)
c.70909C>G (p.Leu23637Val)
c.70828C>G (p.Leu23610Val)
c.52591C>G (p.Leu17531Val)
c.42445C>G (p.Leu14149Val)
2g.178566436G=CA1310529513TTN,TTN-AS1c.71992C= (p.Leu23998=)
c.53077C= (p.Leu17693=)
c.52876C= (p.Leu17626=)
c.52501C= (p.Leu17501=)
c.79696C= (p.Leu26566=)
c.74773C= (p.Leu24925=)
n.447-4864G=
n.2044-16136G=
c.78793C= (p.Leu26265=)
c.52687C= (p.Leu17563=)
c.52546C= (p.Leu17516=)
c.78589C= (p.Leu26197=)
c.73987C= (p.Leu24663=)
c.73984C= (p.Leu24662=)
c.71026C= (p.Leu23676=)
c.52642C= (p.Leu17548=)
c.74137C= (p.Leu24713=)
c.74134C= (p.Leu24712=)
c.73567C= (p.Leu24523=)
c.70909C= (p.Leu23637=)
c.70828C= (p.Leu23610=)
c.52591C= (p.Leu17531=)
c.42445C= (p.Leu14149=)
2g.178566436G>TCA349594313TTN,TTN-AS1c.71992C>A (p.Leu23998Ile)
c.53077C>A (p.Leu17693Ile)
c.52876C>A (p.Leu17626Ile)
c.52501C>A (p.Leu17501Ile)
c.79696C>A (p.Leu26566Ile)
c.74773C>A (p.Leu24925Ile)
n.447-4864G>T
n.2044-16136G>T
c.78793C>A (p.Leu26265Ile)
c.52687C>A (p.Leu17563Ile)
c.52546C>A (p.Leu17516Ile)
c.78589C>A (p.Leu26197Ile)
c.73987C>A (p.Leu24663Ile)
c.73984C>A (p.Leu24662Ile)
c.71026C>A (p.Leu23676Ile)
c.52642C>A (p.Leu17548Ile)
c.74137C>A (p.Leu24713Ile)
c.74134C>A (p.Leu24712Ile)
c.73567C>A (p.Leu24523Ile)
c.70909C>A (p.Leu23637Ile)
c.70828C>A (p.Leu23610Ile)
c.52591C>A (p.Leu17531Ile)
c.42445C>A (p.Leu14149Ile)
 gnomAD v4
2g.178566437G>ACA430252108TTN,TTN-AS1c.71991C>T (p.Ala23997=)
c.53076C>T (p.Ala17692=)
c.52875C>T (p.Ala17625=)
c.52500C>T (p.Ala17500=)
c.79695C>T (p.Ala26565=)
c.74772C>T (p.Ala24924=)
n.447-4863G>A
n.2044-16135G>A
c.78792C>T (p.Ala26264=)
c.52686C>T (p.Ala17562=)
c.52545C>T (p.Ala17515=)
c.78588C>T (p.Ala26196=)
c.73986C>T (p.Ala24662=)
c.73983C>T (p.Ala24661=)
c.71025C>T (p.Ala23675=)
c.52641C>T (p.Ala17547=)
c.74136C>T (p.Ala24712=)
c.74133C>T (p.Ala24711=)
c.73566C>T (p.Ala24522=)
c.70908C>T (p.Ala23636=)
c.70827C>T (p.Ala23609=)
c.52590C>T (p.Ala17530=)
c.42444C>T (p.Ala14148=)
 ClinVar dbSNP
2g.178566437G>CCA430252109TTN,TTN-AS1c.71991C>G (p.Ala23997=)
c.53076C>G (p.Ala17692=)
c.52875C>G (p.Ala17625=)
c.52500C>G (p.Ala17500=)
c.79695C>G (p.Ala26565=)
c.74772C>G (p.Ala24924=)
n.447-4863G>C
n.2044-16135G>C
c.78792C>G (p.Ala26264=)
c.52686C>G (p.Ala17562=)
c.52545C>G (p.Ala17515=)
c.78588C>G (p.Ala26196=)
c.73986C>G (p.Ala24662=)
c.73983C>G (p.Ala24661=)
c.71025C>G (p.Ala23675=)
c.52641C>G (p.Ala17547=)
c.74136C>G (p.Ala24712=)
c.74133C>G (p.Ala24711=)
c.73566C>G (p.Ala24522=)
c.70908C>G (p.Ala23636=)
c.70827C>G (p.Ala23609=)
c.52590C>G (p.Ala17530=)
c.42444C>G (p.Ala14148=)
2g.178566437G=CA1310529514TTN,TTN-AS1c.71991C= (p.Ala23997=)
c.53076C= (p.Ala17692=)
c.52875C= (p.Ala17625=)
c.52500C= (p.Ala17500=)
c.79695C= (p.Ala26565=)
c.74772C= (p.Ala24924=)
n.447-4863G=
n.2044-16135G=
c.78792C= (p.Ala26264=)
c.52686C= (p.Ala17562=)
c.52545C= (p.Ala17515=)
c.78588C= (p.Ala26196=)
c.73986C= (p.Ala24662=)
c.73983C= (p.Ala24661=)
c.71025C= (p.Ala23675=)
c.52641C= (p.Ala17547=)
c.74136C= (p.Ala24712=)
c.74133C= (p.Ala24711=)
c.73566C= (p.Ala24522=)
c.70908C= (p.Ala23636=)
c.70827C= (p.Ala23609=)
c.52590C= (p.Ala17530=)
c.42444C= (p.Ala14148=)
2g.178566437G>TCA430252110TTN,TTN-AS1c.71991C>A (p.Ala23997=)
c.53076C>A (p.Ala17692=)
c.52875C>A (p.Ala17625=)
c.52500C>A (p.Ala17500=)
c.79695C>A (p.Ala26565=)
c.74772C>A (p.Ala24924=)
n.447-4863G>T
n.2044-16135G>T
c.78792C>A (p.Ala26264=)
c.52686C>A (p.Ala17562=)
c.52545C>A (p.Ala17515=)
c.78588C>A (p.Ala26196=)
c.73986C>A (p.Ala24662=)
c.73983C>A (p.Ala24661=)
c.71025C>A (p.Ala23675=)
c.52641C>A (p.Ala17547=)
c.74136C>A (p.Ala24712=)
c.74133C>A (p.Ala24711=)
c.73566C>A (p.Ala24522=)
c.70908C>A (p.Ala23636=)
c.70827C>A (p.Ala23609=)
c.52590C>A (p.Ala17530=)
c.42444C>A (p.Ala14148=)
2g.178566438G>ACA1989442TTN,TTN-AS1c.71990C>T (p.Ala23997Val)
c.53075C>T (p.Ala17692Val)
c.52874C>T (p.Ala17625Val)
c.52499C>T (p.Ala17500Val)
c.79694C>T (p.Ala26565Val)
c.74771C>T (p.Ala24924Val)
n.447-4862G>A
n.2044-16134G>A
c.78791C>T (p.Ala26264Val)
c.52685C>T (p.Ala17562Val)
c.52544C>T (p.Ala17515Val)
c.78587C>T (p.Ala26196Val)
c.73985C>T (p.Ala24662Val)
c.73982C>T (p.Ala24661Val)
c.71024C>T (p.Ala23675Val)
c.52640C>T (p.Ala17547Val)
c.74135C>T (p.Ala24712Val)
c.74132C>T (p.Ala24711Val)
c.73565C>T (p.Ala24522Val)
c.70907C>T (p.Ala23636Val)
c.70826C>T (p.Ala23609Val)
c.52589C>T (p.Ala17530Val)
c.42443C>T (p.Ala14148Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178566438G>CCA349594315TTN,TTN-AS1c.71990C>G (p.Ala23997Gly)
c.53075C>G (p.Ala17692Gly)
c.52874C>G (p.Ala17625Gly)
c.52499C>G (p.Ala17500Gly)
c.79694C>G (p.Ala26565Gly)
c.74771C>G (p.Ala24924Gly)
n.447-4862G>C
n.2044-16134G>C
c.78791C>G (p.Ala26264Gly)
c.52685C>G (p.Ala17562Gly)
c.52544C>G (p.Ala17515Gly)
c.78587C>G (p.Ala26196Gly)
c.73985C>G (p.Ala24662Gly)
c.73982C>G (p.Ala24661Gly)
c.71024C>G (p.Ala23675Gly)
c.52640C>G (p.Ala17547Gly)
c.74135C>G (p.Ala24712Gly)
c.74132C>G (p.Ala24711Gly)
c.73565C>G (p.Ala24522Gly)
c.70907C>G (p.Ala23636Gly)
c.70826C>G (p.Ala23609Gly)
c.52589C>G (p.Ala17530Gly)
c.42443C>G (p.Ala14148Gly)
2g.178566438G=CA1310529515TTN,TTN-AS1c.71990C= (p.Ala23997=)
c.53075C= (p.Ala17692=)
c.52874C= (p.Ala17625=)
c.52499C= (p.Ala17500=)
c.79694C= (p.Ala26565=)
c.74771C= (p.Ala24924=)
n.447-4862G=
n.2044-16134G=
c.78791C= (p.Ala26264=)
c.52685C= (p.Ala17562=)
c.52544C= (p.Ala17515=)
c.78587C= (p.Ala26196=)
c.73985C= (p.Ala24662=)
c.73982C= (p.Ala24661=)
c.71024C= (p.Ala23675=)
c.52640C= (p.Ala17547=)
c.74135C= (p.Ala24712=)
c.74132C= (p.Ala24711=)
c.73565C= (p.Ala24522=)
c.70907C= (p.Ala23636=)
c.70826C= (p.Ala23609=)
c.52589C= (p.Ala17530=)
c.42443C= (p.Ala14148=)
2g.178566438G>TCA349594316TTN,TTN-AS1c.71990C>A (p.Ala23997Asp)
c.53075C>A (p.Ala17692Asp)
c.52874C>A (p.Ala17625Asp)
c.52499C>A (p.Ala17500Asp)
c.79694C>A (p.Ala26565Asp)
c.74771C>A (p.Ala24924Asp)
n.447-4862G>T
n.2044-16134G>T
c.78791C>A (p.Ala26264Asp)
c.52685C>A (p.Ala17562Asp)
c.52544C>A (p.Ala17515Asp)
c.78587C>A (p.Ala26196Asp)
c.73985C>A (p.Ala24662Asp)
c.73982C>A (p.Ala24661Asp)
c.71024C>A (p.Ala23675Asp)
c.52640C>A (p.Ala17547Asp)
c.74135C>A (p.Ala24712Asp)
c.74132C>A (p.Ala24711Asp)
c.73565C>A (p.Ala24522Asp)
c.70907C>A (p.Ala23636Asp)
c.70826C>A (p.Ala23609Asp)
c.52589C>A (p.Ala17530Asp)
c.42443C>A (p.Ala14148Asp)
2g.178566439C>ACA349594322TTN,TTN-AS1c.71989G>T (p.Ala23997Ser)
c.53074G>T (p.Ala17692Ser)
c.52873G>T (p.Ala17625Ser)
c.52498G>T (p.Ala17500Ser)
c.79693G>T (p.Ala26565Ser)
c.74770G>T (p.Ala24924Ser)
n.447-4861C>A
n.2044-16133C>A
c.78790G>T (p.Ala26264Ser)
c.52684G>T (p.Ala17562Ser)
c.52543G>T (p.Ala17515Ser)
c.78586G>T (p.Ala26196Ser)
c.73984G>T (p.Ala24662Ser)
c.73981G>T (p.Ala24661Ser)
c.71023G>T (p.Ala23675Ser)
c.52639G>T (p.Ala17547Ser)
c.74134G>T (p.Ala24712Ser)
c.74131G>T (p.Ala24711Ser)
c.73564G>T (p.Ala24522Ser)
c.70906G>T (p.Ala23636Ser)
c.70825G>T (p.Ala23609Ser)
c.52588G>T (p.Ala17530Ser)
c.42442G>T (p.Ala14148Ser)
2g.178566439C>GCA349594321TTN,TTN-AS1c.71989G>C (p.Ala23997Pro)
c.53074G>C (p.Ala17692Pro)
c.52873G>C (p.Ala17625Pro)
c.52498G>C (p.Ala17500Pro)
c.79693G>C (p.Ala26565Pro)
c.74770G>C (p.Ala24924Pro)
n.447-4861C>G
n.2044-16133C>G
c.78790G>C (p.Ala26264Pro)
c.52684G>C (p.Ala17562Pro)
c.52543G>C (p.Ala17515Pro)
c.78586G>C (p.Ala26196Pro)
c.73984G>C (p.Ala24662Pro)
c.73981G>C (p.Ala24661Pro)
c.71023G>C (p.Ala23675Pro)
c.52639G>C (p.Ala17547Pro)
c.74134G>C (p.Ala24712Pro)
c.74131G>C (p.Ala24711Pro)
c.73564G>C (p.Ala24522Pro)
c.70906G>C (p.Ala23636Pro)
c.70825G>C (p.Ala23609Pro)
c.52588G>C (p.Ala17530Pro)
c.42442G>C (p.Ala14148Pro)
2g.178566439C>TCA349594319TTN,TTN-AS1c.71989G>A (p.Ala23997Thr)
c.53074G>A (p.Ala17692Thr)
c.52873G>A (p.Ala17625Thr)
c.52498G>A (p.Ala17500Thr)
c.79693G>A (p.Ala26565Thr)
c.74770G>A (p.Ala24924Thr)
n.447-4861C>T
n.2044-16133C>T
c.78790G>A (p.Ala26264Thr)
c.52684G>A (p.Ala17562Thr)
c.52543G>A (p.Ala17515Thr)
c.78586G>A (p.Ala26196Thr)
c.73984G>A (p.Ala24662Thr)
c.73981G>A (p.Ala24661Thr)
c.71023G>A (p.Ala23675Thr)
c.52639G>A (p.Ala17547Thr)
c.74134G>A (p.Ala24712Thr)
c.74131G>A (p.Ala24711Thr)
c.73564G>A (p.Ala24522Thr)
c.70906G>A (p.Ala23636Thr)
c.70825G>A (p.Ala23609Thr)
c.52588G>A (p.Ala17530Thr)
c.42442G>A (p.Ala14148Thr)
2g.178566440A>CCA349594324TTN,TTN-AS1c.71988T>G (p.Cys23996Trp)
c.53073T>G (p.Cys17691Trp)
c.52872T>G (p.Cys17624Trp)
c.52497T>G (p.Cys17499Trp)
c.79692T>G (p.Cys26564Trp)
c.74769T>G (p.Cys24923Trp)
n.447-4860A>C
n.2044-16132A>C
c.78789T>G (p.Cys26263Trp)
c.52683T>G (p.Cys17561Trp)
c.52542T>G (p.Cys17514Trp)
c.78585T>G (p.Cys26195Trp)
c.73983T>G (p.Cys24661Trp)
c.73980T>G (p.Cys24660Trp)
c.71022T>G (p.Cys23674Trp)
c.52638T>G (p.Cys17546Trp)
c.74133T>G (p.Cys24711Trp)
c.74130T>G (p.Cys24710Trp)
c.73563T>G (p.Cys24521Trp)
c.70905T>G (p.Cys23635Trp)
c.70824T>G (p.Cys23608Trp)
c.52587T>G (p.Cys17529Trp)
c.42441T>G (p.Cys14147Trp)
2g.178566440A>GCA430252114TTN,TTN-AS1c.71988T>C (p.Cys23996=)
c.53073T>C (p.Cys17691=)
c.52872T>C (p.Cys17624=)
c.52497T>C (p.Cys17499=)
c.79692T>C (p.Cys26564=)
c.74769T>C (p.Cys24923=)
n.447-4860A>G
n.2044-16132A>G
c.78789T>C (p.Cys26263=)
c.52683T>C (p.Cys17561=)
c.52542T>C (p.Cys17514=)
c.78585T>C (p.Cys26195=)
c.73983T>C (p.Cys24661=)
c.73980T>C (p.Cys24660=)
c.71022T>C (p.Cys23674=)
c.52638T>C (p.Cys17546=)
c.74133T>C (p.Cys24711=)
c.74130T>C (p.Cys24710=)
c.73563T>C (p.Cys24521=)
c.70905T>C (p.Cys23635=)
c.70824T>C (p.Cys23608=)
c.52587T>C (p.Cys17529=)
c.42441T>C (p.Cys14147=)
 gnomAD v4
2g.178566440A>TCA349594326TTN,TTN-AS1c.71988T>A (p.Cys23996Ter)
c.53073T>A (p.Cys17691Ter)
c.52872T>A (p.Cys17624Ter)
c.52497T>A (p.Cys17499Ter)
c.79692T>A (p.Cys26564Ter)
c.74769T>A (p.Cys24923Ter)
n.447-4860A>T
n.2044-16132A>T
c.78789T>A (p.Cys26263Ter)
c.52683T>A (p.Cys17561Ter)
c.52542T>A (p.Cys17514Ter)
c.78585T>A (p.Cys26195Ter)
c.73983T>A (p.Cys24661Ter)
c.73980T>A (p.Cys24660Ter)
c.71022T>A (p.Cys23674Ter)
c.52638T>A (p.Cys17546Ter)
c.74133T>A (p.Cys24711Ter)
c.74130T>A (p.Cys24710Ter)
c.73563T>A (p.Cys24521Ter)
c.70905T>A (p.Cys23635Ter)
c.70824T>A (p.Cys23608Ter)
c.52587T>A (p.Cys17529Ter)
c.42441T>A (p.Cys14147Ter)
2g.178566441C>ACA349594328TTN,TTN-AS1c.71987G>T (p.Cys23996Phe)
c.53072G>T (p.Cys17691Phe)
c.52871G>T (p.Cys17624Phe)
c.52496G>T (p.Cys17499Phe)
c.79691G>T (p.Cys26564Phe)
c.74768G>T (p.Cys24923Phe)
n.447-4859C>A
n.2044-16131C>A
c.78788G>T (p.Cys26263Phe)
c.52682G>T (p.Cys17561Phe)
c.52541G>T (p.Cys17514Phe)
c.78584G>T (p.Cys26195Phe)
c.73982G>T (p.Cys24661Phe)
c.73979G>T (p.Cys24660Phe)
c.71021G>T (p.Cys23674Phe)
c.52637G>T (p.Cys17546Phe)
c.74132G>T (p.Cys24711Phe)
c.74129G>T (p.Cys24710Phe)
c.73562G>T (p.Cys24521Phe)
c.70904G>T (p.Cys23635Phe)
c.70823G>T (p.Cys23608Phe)
c.52586G>T (p.Cys17529Phe)
c.42440G>T (p.Cys14147Phe)
2g.178566441C>GCA349594330TTN,TTN-AS1c.71987G>C (p.Cys23996Ser)
c.53072G>C (p.Cys17691Ser)
c.52871G>C (p.Cys17624Ser)
c.52496G>C (p.Cys17499Ser)
c.79691G>C (p.Cys26564Ser)
c.74768G>C (p.Cys24923Ser)
n.447-4859C>G
n.2044-16131C>G
c.78788G>C (p.Cys26263Ser)
c.52682G>C (p.Cys17561Ser)
c.52541G>C (p.Cys17514Ser)
c.78584G>C (p.Cys26195Ser)
c.73982G>C (p.Cys24661Ser)
c.73979G>C (p.Cys24660Ser)
c.71021G>C (p.Cys23674Ser)
c.52637G>C (p.Cys17546Ser)
c.74132G>C (p.Cys24711Ser)
c.74129G>C (p.Cys24710Ser)
c.73562G>C (p.Cys24521Ser)
c.70904G>C (p.Cys23635Ser)
c.70823G>C (p.Cys23608Ser)
c.52586G>C (p.Cys17529Ser)
c.42440G>C (p.Cys14147Ser)
2g.178566441C>TCA349594332TTN,TTN-AS1c.71987G>A (p.Cys23996Tyr)
c.53072G>A (p.Cys17691Tyr)
c.52871G>A (p.Cys17624Tyr)
c.52496G>A (p.Cys17499Tyr)
c.79691G>A (p.Cys26564Tyr)
c.74768G>A (p.Cys24923Tyr)
n.447-4859C>T
n.2044-16131C>T
c.78788G>A (p.Cys26263Tyr)
c.52682G>A (p.Cys17561Tyr)
c.52541G>A (p.Cys17514Tyr)
c.78584G>A (p.Cys26195Tyr)
c.73982G>A (p.Cys24661Tyr)
c.73979G>A (p.Cys24660Tyr)
c.71021G>A (p.Cys23674Tyr)
c.52637G>A (p.Cys17546Tyr)
c.74132G>A (p.Cys24711Tyr)
c.74129G>A (p.Cys24710Tyr)
c.73562G>A (p.Cys24521Tyr)
c.70904G>A (p.Cys23635Tyr)
c.70823G>A (p.Cys23608Tyr)
c.52586G>A (p.Cys17529Tyr)
c.42440G>A (p.Cys14147Tyr)
2g.178566442A>CCA349594333TTN,TTN-AS1c.71986T>G (p.Cys23996Gly)
c.53071T>G (p.Cys17691Gly)
c.52870T>G (p.Cys17624Gly)
c.52495T>G (p.Cys17499Gly)
c.79690T>G (p.Cys26564Gly)
c.74767T>G (p.Cys24923Gly)
n.447-4858A>C
n.2044-16130A>C
c.78787T>G (p.Cys26263Gly)
c.52681T>G (p.Cys17561Gly)
c.52540T>G (p.Cys17514Gly)
c.78583T>G (p.Cys26195Gly)
c.73981T>G (p.Cys24661Gly)
c.73978T>G (p.Cys24660Gly)
c.71020T>G (p.Cys23674Gly)
c.52636T>G (p.Cys17546Gly)
c.74131T>G (p.Cys24711Gly)
c.74128T>G (p.Cys24710Gly)
c.73561T>G (p.Cys24521Gly)
c.70903T>G (p.Cys23635Gly)
c.70822T>G (p.Cys23608Gly)
c.52585T>G (p.Cys17529Gly)
c.42439T>G (p.Cys14147Gly)
2g.178566442A>GCA349594334TTN,TTN-AS1c.71986T>C (p.Cys23996Arg)
c.53071T>C (p.Cys17691Arg)
c.52870T>C (p.Cys17624Arg)
c.52495T>C (p.Cys17499Arg)
c.79690T>C (p.Cys26564Arg)
c.74767T>C (p.Cys24923Arg)
n.447-4858A>G
n.2044-16130A>G
c.78787T>C (p.Cys26263Arg)
c.52681T>C (p.Cys17561Arg)
c.52540T>C (p.Cys17514Arg)
c.78583T>C (p.Cys26195Arg)
c.73981T>C (p.Cys24661Arg)
c.73978T>C (p.Cys24660Arg)
c.71020T>C (p.Cys23674Arg)
c.52636T>C (p.Cys17546Arg)
c.74131T>C (p.Cys24711Arg)
c.74128T>C (p.Cys24710Arg)
c.73561T>C (p.Cys24521Arg)
c.70903T>C (p.Cys23635Arg)
c.70822T>C (p.Cys23608Arg)
c.52585T>C (p.Cys17529Arg)
c.42439T>C (p.Cys14147Arg)
2g.178566442A>TCA349594335TTN,TTN-AS1c.71986T>A (p.Cys23996Ser)
c.53071T>A (p.Cys17691Ser)
c.52870T>A (p.Cys17624Ser)
c.52495T>A (p.Cys17499Ser)
c.79690T>A (p.Cys26564Ser)
c.74767T>A (p.Cys24923Ser)
n.447-4858A>T
n.2044-16130A>T
c.78787T>A (p.Cys26263Ser)
c.52681T>A (p.Cys17561Ser)
c.52540T>A (p.Cys17514Ser)
c.78583T>A (p.Cys26195Ser)
c.73981T>A (p.Cys24661Ser)
c.73978T>A (p.Cys24660Ser)
c.71020T>A (p.Cys23674Ser)
c.52636T>A (p.Cys17546Ser)
c.74131T>A (p.Cys24711Ser)
c.74128T>A (p.Cys24710Ser)
c.73561T>A (p.Cys24521Ser)
c.70903T>A (p.Cys23635Ser)
c.70822T>A (p.Cys23608Ser)
c.52585T>A (p.Cys17529Ser)
c.42439T>A (p.Cys14147Ser)

Number of alleles fetched