Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178565250G>ACA1989287TTN,TTN-AS1c.73178C>T (p.Ala24393Val)
c.54263C>T (p.Ala18088Val)
c.54062C>T (p.Ala18021Val)
c.53687C>T (p.Ala17896Val)
c.80882C>T (p.Ala26961Val)
c.75959C>T (p.Ala25320Val)
n.447-6050G>A
n.2044-17322G>A
c.79979C>T (p.Ala26660Val)
c.53873C>T (p.Ala17958Val)
c.53732C>T (p.Ala17911Val)
c.79775C>T (p.Ala26592Val)
c.75173C>T (p.Ala25058Val)
c.75170C>T (p.Ala25057Val)
c.72212C>T (p.Ala24071Val)
c.53828C>T (p.Ala17943Val)
c.75323C>T (p.Ala25108Val)
c.75320C>T (p.Ala25107Val)
c.74753C>T (p.Ala24918Val)
c.72095C>T (p.Ala24032Val)
c.72014C>T (p.Ala24005Val)
c.53777C>T (p.Ala17926Val)
c.43631C>T (p.Ala14544Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178565250G>CCA349585502TTN,TTN-AS1c.73178C>G (p.Ala24393Gly)
c.54263C>G (p.Ala18088Gly)
c.54062C>G (p.Ala18021Gly)
c.53687C>G (p.Ala17896Gly)
c.80882C>G (p.Ala26961Gly)
c.75959C>G (p.Ala25320Gly)
n.447-6050G>C
n.2044-17322G>C
c.79979C>G (p.Ala26660Gly)
c.53873C>G (p.Ala17958Gly)
c.53732C>G (p.Ala17911Gly)
c.79775C>G (p.Ala26592Gly)
c.75173C>G (p.Ala25058Gly)
c.75170C>G (p.Ala25057Gly)
c.72212C>G (p.Ala24071Gly)
c.53828C>G (p.Ala17943Gly)
c.75323C>G (p.Ala25108Gly)
c.75320C>G (p.Ala25107Gly)
c.74753C>G (p.Ala24918Gly)
c.72095C>G (p.Ala24032Gly)
c.72014C>G (p.Ala24005Gly)
c.53777C>G (p.Ala17926Gly)
c.43631C>G (p.Ala14544Gly)
2g.178565250G=CA1310528920TTN,TTN-AS1c.73178C= (p.Ala24393=)
c.54263C= (p.Ala18088=)
c.54062C= (p.Ala18021=)
c.53687C= (p.Ala17896=)
c.80882C= (p.Ala26961=)
c.75959C= (p.Ala25320=)
n.447-6050G=
n.2044-17322G=
c.79979C= (p.Ala26660=)
c.53873C= (p.Ala17958=)
c.53732C= (p.Ala17911=)
c.79775C= (p.Ala26592=)
c.75173C= (p.Ala25058=)
c.75170C= (p.Ala25057=)
c.72212C= (p.Ala24071=)
c.53828C= (p.Ala17943=)
c.75323C= (p.Ala25108=)
c.75320C= (p.Ala25107=)
c.74753C= (p.Ala24918=)
c.72095C= (p.Ala24032=)
c.72014C= (p.Ala24005=)
c.53777C= (p.Ala17926=)
c.43631C= (p.Ala14544=)
2g.178565250G>TCA349585512TTN,TTN-AS1c.73178C>A (p.Ala24393Glu)
c.54263C>A (p.Ala18088Glu)
c.54062C>A (p.Ala18021Glu)
c.53687C>A (p.Ala17896Glu)
c.80882C>A (p.Ala26961Glu)
c.75959C>A (p.Ala25320Glu)
n.447-6050G>T
n.2044-17322G>T
c.79979C>A (p.Ala26660Glu)
c.53873C>A (p.Ala17958Glu)
c.53732C>A (p.Ala17911Glu)
c.79775C>A (p.Ala26592Glu)
c.75173C>A (p.Ala25058Glu)
c.75170C>A (p.Ala25057Glu)
c.72212C>A (p.Ala24071Glu)
c.53828C>A (p.Ala17943Glu)
c.75323C>A (p.Ala25108Glu)
c.75320C>A (p.Ala25107Glu)
c.74753C>A (p.Ala24918Glu)
c.72095C>A (p.Ala24032Glu)
c.72014C>A (p.Ala24005Glu)
c.53777C>A (p.Ala17926Glu)
c.43631C>A (p.Ala14544Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178565250_178565251delinsGCCA1310528922TTN,TTN-AS1c.73177_73178delinsGC (p.Ala24393=)
c.54262_54263delinsGC (p.Ala18088=)
c.54061_54062delinsGC (p.Ala18021=)
c.53686_53687delinsGC (p.Ala17896=)
c.80881_80882delinsGC (p.Ala26961=)
c.75958_75959delinsGC (p.Ala25320=)
n.447-6050_447-6049delinsGC
n.2044-17322_2044-17321delinsGC
c.79978_79979delinsGC (p.Ala26660=)
c.53872_53873delinsGC (p.Ala17958=)
c.53731_53732delinsGC (p.Ala17911=)
c.79774_79775delinsGC (p.Ala26592=)
c.75172_75173delinsGC (p.Ala25058=)
c.75169_75170delinsGC (p.Ala25057=)
c.72211_72212delinsGC (p.Ala24071=)
c.53827_53828delinsGC (p.Ala17943=)
c.75322_75323delinsGC (p.Ala25108=)
c.75319_75320delinsGC (p.Ala25107=)
c.74752_74753delinsGC (p.Ala24918=)
c.72094_72095delinsGC (p.Ala24032=)
c.72013_72014delinsGC (p.Ala24005=)
c.53776_53777delinsGC (p.Ala17926=)
c.43630_43631delinsGC (p.Ala14544=)
2g.178565250_178565251delinsTTCA915942172TTN,TTN-AS1c.73177_73178delinsAA (p.Ala24393Lys)
c.54262_54263delinsAA (p.Ala18088Lys)
c.54061_54062delinsAA (p.Ala18021Lys)
c.53686_53687delinsAA (p.Ala17896Lys)
c.80881_80882delinsAA (p.Ala26961Lys)
c.75958_75959delinsAA (p.Ala25320Lys)
n.447-6050_447-6049delinsTT
n.2044-17322_2044-17321delinsTT
c.79978_79979delinsAA (p.Ala26660Lys)
c.53872_53873delinsAA (p.Ala17958Lys)
c.53731_53732delinsAA (p.Ala17911Lys)
c.79774_79775delinsAA (p.Ala26592Lys)
c.75172_75173delinsAA (p.Ala25058Lys)
c.75169_75170delinsAA (p.Ala25057Lys)
c.72211_72212delinsAA (p.Ala24071Lys)
c.53827_53828delinsAA (p.Ala17943Lys)
c.75322_75323delinsAA (p.Ala25108Lys)
c.75319_75320delinsAA (p.Ala25107Lys)
c.74752_74753delinsAA (p.Ala24918Lys)
c.72094_72095delinsAA (p.Ala24032Lys)
c.72013_72014delinsAA (p.Ala24005Lys)
c.53776_53777delinsAA (p.Ala17926Lys)
c.43630_43631delinsAA (p.Ala14544Lys)
 ClinVar dbSNP
2g.178565251C>ACA349585520TTN,TTN-AS1c.73177G>T (p.Ala24393Ser)
c.54262G>T (p.Ala18088Ser)
c.54061G>T (p.Ala18021Ser)
c.53686G>T (p.Ala17896Ser)
c.80881G>T (p.Ala26961Ser)
c.75958G>T (p.Ala25320Ser)
n.447-6049C>A
n.2044-17321C>A
c.79978G>T (p.Ala26660Ser)
c.53872G>T (p.Ala17958Ser)
c.53731G>T (p.Ala17911Ser)
c.79774G>T (p.Ala26592Ser)
c.75172G>T (p.Ala25058Ser)
c.75169G>T (p.Ala25057Ser)
c.72211G>T (p.Ala24071Ser)
c.53827G>T (p.Ala17943Ser)
c.75322G>T (p.Ala25108Ser)
c.75319G>T (p.Ala25107Ser)
c.74752G>T (p.Ala24918Ser)
c.72094G>T (p.Ala24032Ser)
c.72013G>T (p.Ala24005Ser)
c.53776G>T (p.Ala17926Ser)
c.43630G>T (p.Ala14544Ser)
2g.178565251C=CA1310528924TTN,TTN-AS1c.73177G= (p.Ala24393=)
c.54262G= (p.Ala18088=)
c.54061G= (p.Ala18021=)
c.53686G= (p.Ala17896=)
c.80881G= (p.Ala26961=)
c.75958G= (p.Ala25320=)
n.447-6049C=
n.2044-17321C=
c.79978G= (p.Ala26660=)
c.53872G= (p.Ala17958=)
c.53731G= (p.Ala17911=)
c.79774G= (p.Ala26592=)
c.75172G= (p.Ala25058=)
c.75169G= (p.Ala25057=)
c.72211G= (p.Ala24071=)
c.53827G= (p.Ala17943=)
c.75322G= (p.Ala25108=)
c.75319G= (p.Ala25107=)
c.74752G= (p.Ala24918=)
c.72094G= (p.Ala24032=)
c.72013G= (p.Ala24005=)
c.53776G= (p.Ala17926=)
c.43630G= (p.Ala14544=)
2g.178565251C>GCA349585532TTN,TTN-AS1c.73177G>C (p.Ala24393Pro)
c.54262G>C (p.Ala18088Pro)
c.54061G>C (p.Ala18021Pro)
c.53686G>C (p.Ala17896Pro)
c.80881G>C (p.Ala26961Pro)
c.75958G>C (p.Ala25320Pro)
n.447-6049C>G
n.2044-17321C>G
c.79978G>C (p.Ala26660Pro)
c.53872G>C (p.Ala17958Pro)
c.53731G>C (p.Ala17911Pro)
c.79774G>C (p.Ala26592Pro)
c.75172G>C (p.Ala25058Pro)
c.75169G>C (p.Ala25057Pro)
c.72211G>C (p.Ala24071Pro)
c.53827G>C (p.Ala17943Pro)
c.75322G>C (p.Ala25108Pro)
c.75319G>C (p.Ala25107Pro)
c.74752G>C (p.Ala24918Pro)
c.72094G>C (p.Ala24032Pro)
c.72013G>C (p.Ala24005Pro)
c.53776G>C (p.Ala17926Pro)
c.43630G>C (p.Ala14544Pro)
2g.178565251C>TCA1989288TTN,TTN-AS1c.73177G>A (p.Ala24393Thr)
c.54262G>A (p.Ala18088Thr)
c.54061G>A (p.Ala18021Thr)
c.53686G>A (p.Ala17896Thr)
c.80881G>A (p.Ala26961Thr)
c.75958G>A (p.Ala25320Thr)
n.447-6049C>T
n.2044-17321C>T
c.79978G>A (p.Ala26660Thr)
c.53872G>A (p.Ala17958Thr)
c.53731G>A (p.Ala17911Thr)
c.79774G>A (p.Ala26592Thr)
c.75172G>A (p.Ala25058Thr)
c.75169G>A (p.Ala25057Thr)
c.72211G>A (p.Ala24071Thr)
c.53827G>A (p.Ala17943Thr)
c.75322G>A (p.Ala25108Thr)
c.75319G>A (p.Ala25107Thr)
c.74752G>A (p.Ala24918Thr)
c.72094G>A (p.Ala24032Thr)
c.72013G>A (p.Ala24005Thr)
c.53776G>A (p.Ala17926Thr)
c.43630G>A (p.Ala14544Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178565252T>ACA430251458TTN,TTN-AS1c.73176A>T (p.Thr24392=)
c.54261A>T (p.Thr18087=)
c.54060A>T (p.Thr18020=)
c.53685A>T (p.Thr17895=)
c.80880A>T (p.Thr26960=)
c.75957A>T (p.Thr25319=)
n.447-6048T>A
n.2044-17320T>A
c.79977A>T (p.Thr26659=)
c.53871A>T (p.Thr17957=)
c.53730A>T (p.Thr17910=)
c.79773A>T (p.Thr26591=)
c.75171A>T (p.Thr25057=)
c.75168A>T (p.Thr25056=)
c.72210A>T (p.Thr24070=)
c.53826A>T (p.Thr17942=)
c.75321A>T (p.Thr25107=)
c.75318A>T (p.Thr25106=)
c.74751A>T (p.Thr24917=)
c.72093A>T (p.Thr24031=)
c.72012A>T (p.Thr24004=)
c.53775A>T (p.Thr17925=)
c.43629A>T (p.Thr14543=)
2g.178565252T>CCA430251460TTN,TTN-AS1c.73176A>G (p.Thr24392=)
c.54261A>G (p.Thr18087=)
c.54060A>G (p.Thr18020=)
c.53685A>G (p.Thr17895=)
c.80880A>G (p.Thr26960=)
c.75957A>G (p.Thr25319=)
n.447-6048T>C
n.2044-17320T>C
c.79977A>G (p.Thr26659=)
c.53871A>G (p.Thr17957=)
c.53730A>G (p.Thr17910=)
c.79773A>G (p.Thr26591=)
c.75171A>G (p.Thr25057=)
c.75168A>G (p.Thr25056=)
c.72210A>G (p.Thr24070=)
c.53826A>G (p.Thr17942=)
c.75321A>G (p.Thr25107=)
c.75318A>G (p.Thr25106=)
c.74751A>G (p.Thr24917=)
c.72093A>G (p.Thr24031=)
c.72012A>G (p.Thr24004=)
c.53775A>G (p.Thr17925=)
c.43629A>G (p.Thr14543=)
 gnomAD v4
2g.178565252T>GCA430251461TTN,TTN-AS1c.73176A>C (p.Thr24392=)
c.54261A>C (p.Thr18087=)
c.54060A>C (p.Thr18020=)
c.53685A>C (p.Thr17895=)
c.80880A>C (p.Thr26960=)
c.75957A>C (p.Thr25319=)
n.447-6048T>G
n.2044-17320T>G
c.79977A>C (p.Thr26659=)
c.53871A>C (p.Thr17957=)
c.53730A>C (p.Thr17910=)
c.79773A>C (p.Thr26591=)
c.75171A>C (p.Thr25057=)
c.75168A>C (p.Thr25056=)
c.72210A>C (p.Thr24070=)
c.53826A>C (p.Thr17942=)
c.75321A>C (p.Thr25107=)
c.75318A>C (p.Thr25106=)
c.74751A>C (p.Thr24917=)
c.72093A>C (p.Thr24031=)
c.72012A>C (p.Thr24004=)
c.53775A>C (p.Thr17925=)
c.43629A>C (p.Thr14543=)
2g.178565253G>ACA1989289TTN,TTN-AS1c.73175C>T (p.Thr24392Ile)
c.54260C>T (p.Thr18087Ile)
c.54059C>T (p.Thr18020Ile)
c.53684C>T (p.Thr17895Ile)
c.80879C>T (p.Thr26960Ile)
c.75956C>T (p.Thr25319Ile)
n.447-6047G>A
n.2044-17319G>A
c.79976C>T (p.Thr26659Ile)
c.53870C>T (p.Thr17957Ile)
c.53729C>T (p.Thr17910Ile)
c.79772C>T (p.Thr26591Ile)
c.75170C>T (p.Thr25057Ile)
c.75167C>T (p.Thr25056Ile)
c.72209C>T (p.Thr24070Ile)
c.53825C>T (p.Thr17942Ile)
c.75320C>T (p.Thr25107Ile)
c.75317C>T (p.Thr25106Ile)
c.74750C>T (p.Thr24917Ile)
c.72092C>T (p.Thr24031Ile)
c.72011C>T (p.Thr24004Ile)
c.53774C>T (p.Thr17925Ile)
c.43628C>T (p.Thr14543Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178565253G>CCA60988590TTN,TTN-AS1c.73175C>G (p.Thr24392Arg)
c.54260C>G (p.Thr18087Arg)
c.54059C>G (p.Thr18020Arg)
c.53684C>G (p.Thr17895Arg)
c.80879C>G (p.Thr26960Arg)
c.75956C>G (p.Thr25319Arg)
n.447-6047G>C
n.2044-17319G>C
c.79976C>G (p.Thr26659Arg)
c.53870C>G (p.Thr17957Arg)
c.53729C>G (p.Thr17910Arg)
c.79772C>G (p.Thr26591Arg)
c.75170C>G (p.Thr25057Arg)
c.75167C>G (p.Thr25056Arg)
c.72209C>G (p.Thr24070Arg)
c.53825C>G (p.Thr17942Arg)
c.75320C>G (p.Thr25107Arg)
c.75317C>G (p.Thr25106Arg)
c.74750C>G (p.Thr24917Arg)
c.72092C>G (p.Thr24031Arg)
c.72011C>G (p.Thr24004Arg)
c.53774C>G (p.Thr17925Arg)
c.43628C>G (p.Thr14543Arg)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178565253G=CA1310528926TTN,TTN-AS1c.73175C= (p.Thr24392=)
c.54260C= (p.Thr18087=)
c.54059C= (p.Thr18020=)
c.53684C= (p.Thr17895=)
c.80879C= (p.Thr26960=)
c.75956C= (p.Thr25319=)
n.447-6047G=
n.2044-17319G=
c.79976C= (p.Thr26659=)
c.53870C= (p.Thr17957=)
c.53729C= (p.Thr17910=)
c.79772C= (p.Thr26591=)
c.75170C= (p.Thr25057=)
c.75167C= (p.Thr25056=)
c.72209C= (p.Thr24070=)
c.53825C= (p.Thr17942=)
c.75320C= (p.Thr25107=)
c.75317C= (p.Thr25106=)
c.74750C= (p.Thr24917=)
c.72092C= (p.Thr24031=)
c.72011C= (p.Thr24004=)
c.53774C= (p.Thr17925=)
c.43628C= (p.Thr14543=)
2g.178565253G>TCA349585545TTN,TTN-AS1c.73175C>A (p.Thr24392Lys)
c.54260C>A (p.Thr18087Lys)
c.54059C>A (p.Thr18020Lys)
c.53684C>A (p.Thr17895Lys)
c.80879C>A (p.Thr26960Lys)
c.75956C>A (p.Thr25319Lys)
n.447-6047G>T
n.2044-17319G>T
c.79976C>A (p.Thr26659Lys)
c.53870C>A (p.Thr17957Lys)
c.53729C>A (p.Thr17910Lys)
c.79772C>A (p.Thr26591Lys)
c.75170C>A (p.Thr25057Lys)
c.75167C>A (p.Thr25056Lys)
c.72209C>A (p.Thr24070Lys)
c.53825C>A (p.Thr17942Lys)
c.75320C>A (p.Thr25107Lys)
c.75317C>A (p.Thr25106Lys)
c.74750C>A (p.Thr24917Lys)
c.72092C>A (p.Thr24031Lys)
c.72011C>A (p.Thr24004Lys)
c.53774C>A (p.Thr17925Lys)
c.43628C>A (p.Thr14543Lys)
2g.178565254T>ACA349585556TTN,TTN-AS1c.73174A>T (p.Thr24392Ser)
c.54259A>T (p.Thr18087Ser)
c.54058A>T (p.Thr18020Ser)
c.53683A>T (p.Thr17895Ser)
c.80878A>T (p.Thr26960Ser)
c.75955A>T (p.Thr25319Ser)
n.447-6046T>A
n.2044-17318T>A
c.79975A>T (p.Thr26659Ser)
c.53869A>T (p.Thr17957Ser)
c.53728A>T (p.Thr17910Ser)
c.79771A>T (p.Thr26591Ser)
c.75169A>T (p.Thr25057Ser)
c.75166A>T (p.Thr25056Ser)
c.72208A>T (p.Thr24070Ser)
c.53824A>T (p.Thr17942Ser)
c.75319A>T (p.Thr25107Ser)
c.75316A>T (p.Thr25106Ser)
c.74749A>T (p.Thr24917Ser)
c.72091A>T (p.Thr24031Ser)
c.72010A>T (p.Thr24004Ser)
c.53773A>T (p.Thr17925Ser)
c.43627A>T (p.Thr14543Ser)
2g.178565254T>CCA349585553TTN,TTN-AS1c.73174A>G (p.Thr24392Ala)
c.54259A>G (p.Thr18087Ala)
c.54058A>G (p.Thr18020Ala)
c.53683A>G (p.Thr17895Ala)
c.80878A>G (p.Thr26960Ala)
c.75955A>G (p.Thr25319Ala)
n.447-6046T>C
n.2044-17318T>C
c.79975A>G (p.Thr26659Ala)
c.53869A>G (p.Thr17957Ala)
c.53728A>G (p.Thr17910Ala)
c.79771A>G (p.Thr26591Ala)
c.75169A>G (p.Thr25057Ala)
c.75166A>G (p.Thr25056Ala)
c.72208A>G (p.Thr24070Ala)
c.53824A>G (p.Thr17942Ala)
c.75319A>G (p.Thr25107Ala)
c.75316A>G (p.Thr25106Ala)
c.74749A>G (p.Thr24917Ala)
c.72091A>G (p.Thr24031Ala)
c.72010A>G (p.Thr24004Ala)
c.53773A>G (p.Thr17925Ala)
c.43627A>G (p.Thr14543Ala)
2g.178565254T>GCA349585552TTN,TTN-AS1c.73174A>C (p.Thr24392Pro)
c.54259A>C (p.Thr18087Pro)
c.54058A>C (p.Thr18020Pro)
c.53683A>C (p.Thr17895Pro)
c.80878A>C (p.Thr26960Pro)
c.75955A>C (p.Thr25319Pro)
n.447-6046T>G
n.2044-17318T>G
c.79975A>C (p.Thr26659Pro)
c.53869A>C (p.Thr17957Pro)
c.53728A>C (p.Thr17910Pro)
c.79771A>C (p.Thr26591Pro)
c.75169A>C (p.Thr25057Pro)
c.75166A>C (p.Thr25056Pro)
c.72208A>C (p.Thr24070Pro)
c.53824A>C (p.Thr17942Pro)
c.75319A>C (p.Thr25107Pro)
c.75316A>C (p.Thr25106Pro)
c.74749A>C (p.Thr24917Pro)
c.72091A>C (p.Thr24031Pro)
c.72010A>C (p.Thr24004Pro)
c.53773A>C (p.Thr17925Pro)
c.43627A>C (p.Thr14543Pro)
2g.178565255G>ACA430251466TTN,TTN-AS1c.73173C>T (p.Gly24391=)
c.54258C>T (p.Gly18086=)
c.54057C>T (p.Gly18019=)
c.53682C>T (p.Gly17894=)
c.80877C>T (p.Gly26959=)
c.75954C>T (p.Gly25318=)
n.447-6045G>A
n.2044-17317G>A
c.79974C>T (p.Gly26658=)
c.53868C>T (p.Gly17956=)
c.53727C>T (p.Gly17909=)
c.79770C>T (p.Gly26590=)
c.75168C>T (p.Gly25056=)
c.75165C>T (p.Gly25055=)
c.72207C>T (p.Gly24069=)
c.53823C>T (p.Gly17941=)
c.75318C>T (p.Gly25106=)
c.75315C>T (p.Gly25105=)
c.74748C>T (p.Gly24916=)
c.72090C>T (p.Gly24030=)
c.72009C>T (p.Gly24003=)
c.53772C>T (p.Gly17924=)
c.43626C>T (p.Gly14542=)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178565255G>CCA430251467TTN,TTN-AS1c.73173C>G (p.Gly24391=)
c.54258C>G (p.Gly18086=)
c.54057C>G (p.Gly18019=)
c.53682C>G (p.Gly17894=)
c.80877C>G (p.Gly26959=)
c.75954C>G (p.Gly25318=)
n.447-6045G>C
n.2044-17317G>C
c.79974C>G (p.Gly26658=)
c.53868C>G (p.Gly17956=)
c.53727C>G (p.Gly17909=)
c.79770C>G (p.Gly26590=)
c.75168C>G (p.Gly25056=)
c.75165C>G (p.Gly25055=)
c.72207C>G (p.Gly24069=)
c.53823C>G (p.Gly17941=)
c.75318C>G (p.Gly25106=)
c.75315C>G (p.Gly25105=)
c.74748C>G (p.Gly24916=)
c.72090C>G (p.Gly24030=)
c.72009C>G (p.Gly24003=)
c.53772C>G (p.Gly17924=)
c.43626C>G (p.Gly14542=)
2g.178565255G>TCA430251468TTN,TTN-AS1c.73173C>A (p.Gly24391=)
c.54258C>A (p.Gly18086=)
c.54057C>A (p.Gly18019=)
c.53682C>A (p.Gly17894=)
c.80877C>A (p.Gly26959=)
c.75954C>A (p.Gly25318=)
n.447-6045G>T
n.2044-17317G>T
c.79974C>A (p.Gly26658=)
c.53868C>A (p.Gly17956=)
c.53727C>A (p.Gly17909=)
c.79770C>A (p.Gly26590=)
c.75168C>A (p.Gly25056=)
c.75165C>A (p.Gly25055=)
c.72207C>A (p.Gly24069=)
c.53823C>A (p.Gly17941=)
c.75318C>A (p.Gly25106=)
c.75315C>A (p.Gly25105=)
c.74748C>A (p.Gly24916=)
c.72090C>A (p.Gly24030=)
c.72009C>A (p.Gly24003=)
c.53772C>A (p.Gly17924=)
c.43626C>A (p.Gly14542=)
2g.178565256C>ACA349585558TTN,TTN-AS1c.73172G>T (p.Gly24391Val)
c.54257G>T (p.Gly18086Val)
c.54056G>T (p.Gly18019Val)
c.53681G>T (p.Gly17894Val)
c.80876G>T (p.Gly26959Val)
c.75953G>T (p.Gly25318Val)
n.447-6044C>A
n.2044-17316C>A
c.79973G>T (p.Gly26658Val)
c.53867G>T (p.Gly17956Val)
c.53726G>T (p.Gly17909Val)
c.79769G>T (p.Gly26590Val)
c.75167G>T (p.Gly25056Val)
c.75164G>T (p.Gly25055Val)
c.72206G>T (p.Gly24069Val)
c.53822G>T (p.Gly17941Val)
c.75317G>T (p.Gly25106Val)
c.75314G>T (p.Gly25105Val)
c.74747G>T (p.Gly24916Val)
c.72089G>T (p.Gly24030Val)
c.72008G>T (p.Gly24003Val)
c.53771G>T (p.Gly17924Val)
c.43625G>T (p.Gly14542Val)
2g.178565256C=CA1310528929TTN,TTN-AS1c.73172G= (p.Gly24391=)
c.54257G= (p.Gly18086=)
c.54056G= (p.Gly18019=)
c.53681G= (p.Gly17894=)
c.80876G= (p.Gly26959=)
c.75953G= (p.Gly25318=)
n.447-6044C=
n.2044-17316C=
c.79973G= (p.Gly26658=)
c.53867G= (p.Gly17956=)
c.53726G= (p.Gly17909=)
c.79769G= (p.Gly26590=)
c.75167G= (p.Gly25056=)
c.75164G= (p.Gly25055=)
c.72206G= (p.Gly24069=)
c.53822G= (p.Gly17941=)
c.75317G= (p.Gly25106=)
c.75314G= (p.Gly25105=)
c.74747G= (p.Gly24916=)
c.72089G= (p.Gly24030=)
c.72008G= (p.Gly24003=)
c.53771G= (p.Gly17924=)
c.43625G= (p.Gly14542=)
2g.178565256C>GCA349585562TTN,TTN-AS1c.73172G>C (p.Gly24391Ala)
c.54257G>C (p.Gly18086Ala)
c.54056G>C (p.Gly18019Ala)
c.53681G>C (p.Gly17894Ala)
c.80876G>C (p.Gly26959Ala)
c.75953G>C (p.Gly25318Ala)
n.447-6044C>G
n.2044-17316C>G
c.79973G>C (p.Gly26658Ala)
c.53867G>C (p.Gly17956Ala)
c.53726G>C (p.Gly17909Ala)
c.79769G>C (p.Gly26590Ala)
c.75167G>C (p.Gly25056Ala)
c.75164G>C (p.Gly25055Ala)
c.72206G>C (p.Gly24069Ala)
c.53822G>C (p.Gly17941Ala)
c.75317G>C (p.Gly25106Ala)
c.75314G>C (p.Gly25105Ala)
c.74747G>C (p.Gly24916Ala)
c.72089G>C (p.Gly24030Ala)
c.72008G>C (p.Gly24003Ala)
c.53771G>C (p.Gly17924Ala)
c.43625G>C (p.Gly14542Ala)
2g.178565256C>TCA242828TTN,TTN-AS1c.73172G>A (p.Gly24391Asp)
c.54257G>A (p.Gly18086Asp)
c.54056G>A (p.Gly18019Asp)
c.53681G>A (p.Gly17894Asp)
c.80876G>A (p.Gly26959Asp)
c.75953G>A (p.Gly25318Asp)
n.447-6044C>T
n.2044-17316C>T
c.79973G>A (p.Gly26658Asp)
c.53867G>A (p.Gly17956Asp)
c.53726G>A (p.Gly17909Asp)
c.79769G>A (p.Gly26590Asp)
c.75167G>A (p.Gly25056Asp)
c.75164G>A (p.Gly25055Asp)
c.72206G>A (p.Gly24069Asp)
c.53822G>A (p.Gly17941Asp)
c.75317G>A (p.Gly25106Asp)
c.75314G>A (p.Gly25105Asp)
c.74747G>A (p.Gly24916Asp)
c.72089G>A (p.Gly24030Asp)
c.72008G>A (p.Gly24003Asp)
c.53771G>A (p.Gly17924Asp)
c.43625G>A (p.Gly14542Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178565257C>ACA349585572TTN,TTN-AS1c.73171G>T (p.Gly24391Cys)
c.54256G>T (p.Gly18086Cys)
c.54055G>T (p.Gly18019Cys)
c.53680G>T (p.Gly17894Cys)
c.80875G>T (p.Gly26959Cys)
c.75952G>T (p.Gly25318Cys)
n.447-6043C>A
n.2044-17315C>A
c.79972G>T (p.Gly26658Cys)
c.53866G>T (p.Gly17956Cys)
c.53725G>T (p.Gly17909Cys)
c.79768G>T (p.Gly26590Cys)
c.75166G>T (p.Gly25056Cys)
c.75163G>T (p.Gly25055Cys)
c.72205G>T (p.Gly24069Cys)
c.53821G>T (p.Gly17941Cys)
c.75316G>T (p.Gly25106Cys)
c.75313G>T (p.Gly25105Cys)
c.74746G>T (p.Gly24916Cys)
c.72088G>T (p.Gly24030Cys)
c.72007G>T (p.Gly24003Cys)
c.53770G>T (p.Gly17924Cys)
c.43624G>T (p.Gly14542Cys)
2g.178565257C>GCA349585576TTN,TTN-AS1c.73171G>C (p.Gly24391Arg)
c.54256G>C (p.Gly18086Arg)
c.54055G>C (p.Gly18019Arg)
c.53680G>C (p.Gly17894Arg)
c.80875G>C (p.Gly26959Arg)
c.75952G>C (p.Gly25318Arg)
n.447-6043C>G
n.2044-17315C>G
c.79972G>C (p.Gly26658Arg)
c.53866G>C (p.Gly17956Arg)
c.53725G>C (p.Gly17909Arg)
c.79768G>C (p.Gly26590Arg)
c.75166G>C (p.Gly25056Arg)
c.75163G>C (p.Gly25055Arg)
c.72205G>C (p.Gly24069Arg)
c.53821G>C (p.Gly17941Arg)
c.75316G>C (p.Gly25106Arg)
c.75313G>C (p.Gly25105Arg)
c.74746G>C (p.Gly24916Arg)
c.72088G>C (p.Gly24030Arg)
c.72007G>C (p.Gly24003Arg)
c.53770G>C (p.Gly17924Arg)
c.43624G>C (p.Gly14542Arg)
2g.178565257C>TCA349585583TTN,TTN-AS1c.73171G>A (p.Gly24391Ser)
c.54256G>A (p.Gly18086Ser)
c.54055G>A (p.Gly18019Ser)
c.53680G>A (p.Gly17894Ser)
c.80875G>A (p.Gly26959Ser)
c.75952G>A (p.Gly25318Ser)
n.447-6043C>T
n.2044-17315C>T
c.79972G>A (p.Gly26658Ser)
c.53866G>A (p.Gly17956Ser)
c.53725G>A (p.Gly17909Ser)
c.79768G>A (p.Gly26590Ser)
c.75166G>A (p.Gly25056Ser)
c.75163G>A (p.Gly25055Ser)
c.72205G>A (p.Gly24069Ser)
c.53821G>A (p.Gly17941Ser)
c.75316G>A (p.Gly25106Ser)
c.75313G>A (p.Gly25105Ser)
c.74746G>A (p.Gly24916Ser)
c.72088G>A (p.Gly24030Ser)
c.72007G>A (p.Gly24003Ser)
c.53770G>A (p.Gly17924Ser)
c.43624G>A (p.Gly14542Ser)
2g.178565258T>ACA430251470TTN,TTN-AS1c.73170A>T (p.Ala24390=)
c.54255A>T (p.Ala18085=)
c.54054A>T (p.Ala18018=)
c.53679A>T (p.Ala17893=)
c.80874A>T (p.Ala26958=)
c.75951A>T (p.Ala25317=)
n.447-6042T>A
n.2044-17314T>A
c.79971A>T (p.Ala26657=)
c.53865A>T (p.Ala17955=)
c.53724A>T (p.Ala17908=)
c.79767A>T (p.Ala26589=)
c.75165A>T (p.Ala25055=)
c.75162A>T (p.Ala25054=)
c.72204A>T (p.Ala24068=)
c.53820A>T (p.Ala17940=)
c.75315A>T (p.Ala25105=)
c.75312A>T (p.Ala25104=)
c.74745A>T (p.Ala24915=)
c.72087A>T (p.Ala24029=)
c.72006A>T (p.Ala24002=)
c.53769A>T (p.Ala17923=)
c.43623A>T (p.Ala14541=)
2g.178565258T>CCA430251472TTN,TTN-AS1c.73170A>G (p.Ala24390=)
c.54255A>G (p.Ala18085=)
c.54054A>G (p.Ala18018=)
c.53679A>G (p.Ala17893=)
c.80874A>G (p.Ala26958=)
c.75951A>G (p.Ala25317=)
n.447-6042T>C
n.2044-17314T>C
c.79971A>G (p.Ala26657=)
c.53865A>G (p.Ala17955=)
c.53724A>G (p.Ala17908=)
c.79767A>G (p.Ala26589=)
c.75165A>G (p.Ala25055=)
c.75162A>G (p.Ala25054=)
c.72204A>G (p.Ala24068=)
c.53820A>G (p.Ala17940=)
c.75315A>G (p.Ala25105=)
c.75312A>G (p.Ala25104=)
c.74745A>G (p.Ala24915=)
c.72087A>G (p.Ala24029=)
c.72006A>G (p.Ala24002=)
c.53769A>G (p.Ala17923=)
c.43623A>G (p.Ala14541=)
2g.178565258T>GCA430251473TTN,TTN-AS1c.73170A>C (p.Ala24390=)
c.54255A>C (p.Ala18085=)
c.54054A>C (p.Ala18018=)
c.53679A>C (p.Ala17893=)
c.80874A>C (p.Ala26958=)
c.75951A>C (p.Ala25317=)
n.447-6042T>G
n.2044-17314T>G
c.79971A>C (p.Ala26657=)
c.53865A>C (p.Ala17955=)
c.53724A>C (p.Ala17908=)
c.79767A>C (p.Ala26589=)
c.75165A>C (p.Ala25055=)
c.75162A>C (p.Ala25054=)
c.72204A>C (p.Ala24068=)
c.53820A>C (p.Ala17940=)
c.75315A>C (p.Ala25105=)
c.75312A>C (p.Ala25104=)
c.74745A>C (p.Ala24915=)
c.72087A>C (p.Ala24029=)
c.72006A>C (p.Ala24002=)
c.53769A>C (p.Ala17923=)
c.43623A>C (p.Ala14541=)
2g.178565259G>ACA349585587TTN,TTN-AS1c.73169C>T (p.Ala24390Val)
c.54254C>T (p.Ala18085Val)
c.54053C>T (p.Ala18018Val)
c.53678C>T (p.Ala17893Val)
c.80873C>T (p.Ala26958Val)
c.75950C>T (p.Ala25317Val)
n.447-6041G>A
n.2044-17313G>A
c.79970C>T (p.Ala26657Val)
c.53864C>T (p.Ala17955Val)
c.53723C>T (p.Ala17908Val)
c.79766C>T (p.Ala26589Val)
c.75164C>T (p.Ala25055Val)
c.75161C>T (p.Ala25054Val)
c.72203C>T (p.Ala24068Val)
c.53819C>T (p.Ala17940Val)
c.75314C>T (p.Ala25105Val)
c.75311C>T (p.Ala25104Val)
c.74744C>T (p.Ala24915Val)
c.72086C>T (p.Ala24029Val)
c.72005C>T (p.Ala24002Val)
c.53768C>T (p.Ala17923Val)
c.43622C>T (p.Ala14541Val)
 gnomAD v4
2g.178565259G>CCA349585600TTN,TTN-AS1c.73169C>G (p.Ala24390Gly)
c.54254C>G (p.Ala18085Gly)
c.54053C>G (p.Ala18018Gly)
c.53678C>G (p.Ala17893Gly)
c.80873C>G (p.Ala26958Gly)
c.75950C>G (p.Ala25317Gly)
n.447-6041G>C
n.2044-17313G>C
c.79970C>G (p.Ala26657Gly)
c.53864C>G (p.Ala17955Gly)
c.53723C>G (p.Ala17908Gly)
c.79766C>G (p.Ala26589Gly)
c.75164C>G (p.Ala25055Gly)
c.75161C>G (p.Ala25054Gly)
c.72203C>G (p.Ala24068Gly)
c.53819C>G (p.Ala17940Gly)
c.75314C>G (p.Ala25105Gly)
c.75311C>G (p.Ala25104Gly)
c.74744C>G (p.Ala24915Gly)
c.72086C>G (p.Ala24029Gly)
c.72005C>G (p.Ala24002Gly)
c.53768C>G (p.Ala17923Gly)
c.43622C>G (p.Ala14541Gly)
2g.178565259G>TCA349585597TTN,TTN-AS1c.73169C>A (p.Ala24390Glu)
c.54254C>A (p.Ala18085Glu)
c.54053C>A (p.Ala18018Glu)
c.53678C>A (p.Ala17893Glu)
c.80873C>A (p.Ala26958Glu)
c.75950C>A (p.Ala25317Glu)
n.447-6041G>T
n.2044-17313G>T
c.79970C>A (p.Ala26657Glu)
c.53864C>A (p.Ala17955Glu)
c.53723C>A (p.Ala17908Glu)
c.79766C>A (p.Ala26589Glu)
c.75164C>A (p.Ala25055Glu)
c.75161C>A (p.Ala25054Glu)
c.72203C>A (p.Ala24068Glu)
c.53819C>A (p.Ala17940Glu)
c.75314C>A (p.Ala25105Glu)
c.75311C>A (p.Ala25104Glu)
c.74744C>A (p.Ala24915Glu)
c.72086C>A (p.Ala24029Glu)
c.72005C>A (p.Ala24002Glu)
c.53768C>A (p.Ala17923Glu)
c.43622C>A (p.Ala14541Glu)
2g.178565260C>ACA349585606TTN,TTN-AS1c.73168G>T (p.Ala24390Ser)
c.54253G>T (p.Ala18085Ser)
c.54052G>T (p.Ala18018Ser)
c.53677G>T (p.Ala17893Ser)
c.80872G>T (p.Ala26958Ser)
c.75949G>T (p.Ala25317Ser)
n.447-6040C>A
n.2044-17312C>A
c.79969G>T (p.Ala26657Ser)
c.53863G>T (p.Ala17955Ser)
c.53722G>T (p.Ala17908Ser)
c.79765G>T (p.Ala26589Ser)
c.75163G>T (p.Ala25055Ser)
c.75160G>T (p.Ala25054Ser)
c.72202G>T (p.Ala24068Ser)
c.53818G>T (p.Ala17940Ser)
c.75313G>T (p.Ala25105Ser)
c.75310G>T (p.Ala25104Ser)
c.74743G>T (p.Ala24915Ser)
c.72085G>T (p.Ala24029Ser)
c.72004G>T (p.Ala24002Ser)
c.53767G>T (p.Ala17923Ser)
c.43621G>T (p.Ala14541Ser)
 gnomAD v4
2g.178565260C>GCA349585609TTN,TTN-AS1c.73168G>C (p.Ala24390Pro)
c.54253G>C (p.Ala18085Pro)
c.54052G>C (p.Ala18018Pro)
c.53677G>C (p.Ala17893Pro)
c.80872G>C (p.Ala26958Pro)
c.75949G>C (p.Ala25317Pro)
n.447-6040C>G
n.2044-17312C>G
c.79969G>C (p.Ala26657Pro)
c.53863G>C (p.Ala17955Pro)
c.53722G>C (p.Ala17908Pro)
c.79765G>C (p.Ala26589Pro)
c.75163G>C (p.Ala25055Pro)
c.75160G>C (p.Ala25054Pro)
c.72202G>C (p.Ala24068Pro)
c.53818G>C (p.Ala17940Pro)
c.75313G>C (p.Ala25105Pro)
c.75310G>C (p.Ala25104Pro)
c.74743G>C (p.Ala24915Pro)
c.72085G>C (p.Ala24029Pro)
c.72004G>C (p.Ala24002Pro)
c.53767G>C (p.Ala17923Pro)
c.43621G>C (p.Ala14541Pro)
2g.178565260C>TCA349585610TTN,TTN-AS1c.73168G>A (p.Ala24390Thr)
c.54253G>A (p.Ala18085Thr)
c.54052G>A (p.Ala18018Thr)
c.53677G>A (p.Ala17893Thr)
c.80872G>A (p.Ala26958Thr)
c.75949G>A (p.Ala25317Thr)
n.447-6040C>T
n.2044-17312C>T
c.79969G>A (p.Ala26657Thr)
c.53863G>A (p.Ala17955Thr)
c.53722G>A (p.Ala17908Thr)
c.79765G>A (p.Ala26589Thr)
c.75163G>A (p.Ala25055Thr)
c.75160G>A (p.Ala25054Thr)
c.72202G>A (p.Ala24068Thr)
c.53818G>A (p.Ala17940Thr)
c.75313G>A (p.Ala25105Thr)
c.75310G>A (p.Ala25104Thr)
c.74743G>A (p.Ala24915Thr)
c.72085G>A (p.Ala24029Thr)
c.72004G>A (p.Ala24002Thr)
c.53767G>A (p.Ala17923Thr)
c.43621G>A (p.Ala14541Thr)
2g.178565261A=CA1310528932TTN,TTN-AS1c.73167T= (p.Ser24389=)
c.54252T= (p.Ser18084=)
c.54051T= (p.Ser18017=)
c.53676T= (p.Ser17892=)
c.80871T= (p.Ser26957=)
c.75948T= (p.Ser25316=)
n.447-6039A=
n.2044-17311A=
c.79968T= (p.Ser26656=)
c.53862T= (p.Ser17954=)
c.53721T= (p.Ser17907=)
c.79764T= (p.Ser26588=)
c.75162T= (p.Ser25054=)
c.75159T= (p.Ser25053=)
c.72201T= (p.Ser24067=)
c.53817T= (p.Ser17939=)
c.75312T= (p.Ser25104=)
c.75309T= (p.Ser25103=)
c.74742T= (p.Ser24914=)
c.72084T= (p.Ser24028=)
c.72003T= (p.Ser24001=)
c.53766T= (p.Ser17922=)
c.43620T= (p.Ser14540=)
2g.178565261A>CCA349585611TTN,TTN-AS1c.73167T>G (p.Ser24389Arg)
c.54252T>G (p.Ser18084Arg)
c.54051T>G (p.Ser18017Arg)
c.53676T>G (p.Ser17892Arg)
c.80871T>G (p.Ser26957Arg)
c.75948T>G (p.Ser25316Arg)
n.447-6039A>C
n.2044-17311A>C
c.79968T>G (p.Ser26656Arg)
c.53862T>G (p.Ser17954Arg)
c.53721T>G (p.Ser17907Arg)
c.79764T>G (p.Ser26588Arg)
c.75162T>G (p.Ser25054Arg)
c.75159T>G (p.Ser25053Arg)
c.72201T>G (p.Ser24067Arg)
c.53817T>G (p.Ser17939Arg)
c.75312T>G (p.Ser25104Arg)
c.75309T>G (p.Ser25103Arg)
c.74742T>G (p.Ser24914Arg)
c.72084T>G (p.Ser24028Arg)
c.72003T>G (p.Ser24001Arg)
c.53766T>G (p.Ser17922Arg)
c.43620T>G (p.Ser14540Arg)
2g.178565261A>GCA430251476TTN,TTN-AS1c.73167T>C (p.Ser24389=)
c.54252T>C (p.Ser18084=)
c.54051T>C (p.Ser18017=)
c.53676T>C (p.Ser17892=)
c.80871T>C (p.Ser26957=)
c.75948T>C (p.Ser25316=)
n.447-6039A>G
n.2044-17311A>G
c.79968T>C (p.Ser26656=)
c.53862T>C (p.Ser17954=)
c.53721T>C (p.Ser17907=)
c.79764T>C (p.Ser26588=)
c.75162T>C (p.Ser25054=)
c.75159T>C (p.Ser25053=)
c.72201T>C (p.Ser24067=)
c.53817T>C (p.Ser17939=)
c.75312T>C (p.Ser25104=)
c.75309T>C (p.Ser25103=)
c.74742T>C (p.Ser24914=)
c.72084T>C (p.Ser24028=)
c.72003T>C (p.Ser24001=)
c.53766T>C (p.Ser17922=)
c.43620T>C (p.Ser14540=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178565261A>TCA349585612TTN,TTN-AS1c.73167T>A (p.Ser24389Arg)
c.54252T>A (p.Ser18084Arg)
c.54051T>A (p.Ser18017Arg)
c.53676T>A (p.Ser17892Arg)
c.80871T>A (p.Ser26957Arg)
c.75948T>A (p.Ser25316Arg)
n.447-6039A>T
n.2044-17311A>T
c.79968T>A (p.Ser26656Arg)
c.53862T>A (p.Ser17954Arg)
c.53721T>A (p.Ser17907Arg)
c.79764T>A (p.Ser26588Arg)
c.75162T>A (p.Ser25054Arg)
c.75159T>A (p.Ser25053Arg)
c.72201T>A (p.Ser24067Arg)
c.53817T>A (p.Ser17939Arg)
c.75312T>A (p.Ser25104Arg)
c.75309T>A (p.Ser25103Arg)
c.74742T>A (p.Ser24914Arg)
c.72084T>A (p.Ser24028Arg)
c.72003T>A (p.Ser24001Arg)
c.53766T>A (p.Ser17922Arg)
c.43620T>A (p.Ser14540Arg)
2g.178565262C>ACA349585622TTN,TTN-AS1c.73166G>T (p.Ser24389Ile)
c.54251G>T (p.Ser18084Ile)
c.54050G>T (p.Ser18017Ile)
c.53675G>T (p.Ser17892Ile)
c.80870G>T (p.Ser26957Ile)
c.75947G>T (p.Ser25316Ile)
n.447-6038C>A
n.2044-17310C>A
c.79967G>T (p.Ser26656Ile)
c.53861G>T (p.Ser17954Ile)
c.53720G>T (p.Ser17907Ile)
c.79763G>T (p.Ser26588Ile)
c.75161G>T (p.Ser25054Ile)
c.75158G>T (p.Ser25053Ile)
c.72200G>T (p.Ser24067Ile)
c.53816G>T (p.Ser17939Ile)
c.75311G>T (p.Ser25104Ile)
c.75308G>T (p.Ser25103Ile)
c.74741G>T (p.Ser24914Ile)
c.72083G>T (p.Ser24028Ile)
c.72002G>T (p.Ser24001Ile)
c.53765G>T (p.Ser17922Ile)
c.43619G>T (p.Ser14540Ile)
2g.178565262C>GCA349585624TTN,TTN-AS1c.73166G>C (p.Ser24389Thr)
c.54251G>C (p.Ser18084Thr)
c.54050G>C (p.Ser18017Thr)
c.53675G>C (p.Ser17892Thr)
c.80870G>C (p.Ser26957Thr)
c.75947G>C (p.Ser25316Thr)
n.447-6038C>G
n.2044-17310C>G
c.79967G>C (p.Ser26656Thr)
c.53861G>C (p.Ser17954Thr)
c.53720G>C (p.Ser17907Thr)
c.79763G>C (p.Ser26588Thr)
c.75161G>C (p.Ser25054Thr)
c.75158G>C (p.Ser25053Thr)
c.72200G>C (p.Ser24067Thr)
c.53816G>C (p.Ser17939Thr)
c.75311G>C (p.Ser25104Thr)
c.75308G>C (p.Ser25103Thr)
c.74741G>C (p.Ser24914Thr)
c.72083G>C (p.Ser24028Thr)
c.72002G>C (p.Ser24001Thr)
c.53765G>C (p.Ser17922Thr)
c.43619G>C (p.Ser14540Thr)
2g.178565262C>TCA349585626TTN,TTN-AS1c.73166G>A (p.Ser24389Asn)
c.54251G>A (p.Ser18084Asn)
c.54050G>A (p.Ser18017Asn)
c.53675G>A (p.Ser17892Asn)
c.80870G>A (p.Ser26957Asn)
c.75947G>A (p.Ser25316Asn)
n.447-6038C>T
n.2044-17310C>T
c.79967G>A (p.Ser26656Asn)
c.53861G>A (p.Ser17954Asn)
c.53720G>A (p.Ser17907Asn)
c.79763G>A (p.Ser26588Asn)
c.75161G>A (p.Ser25054Asn)
c.75158G>A (p.Ser25053Asn)
c.72200G>A (p.Ser24067Asn)
c.53816G>A (p.Ser17939Asn)
c.75311G>A (p.Ser25104Asn)
c.75308G>A (p.Ser25103Asn)
c.74741G>A (p.Ser24914Asn)
c.72083G>A (p.Ser24028Asn)
c.72002G>A (p.Ser24001Asn)
c.53765G>A (p.Ser17922Asn)
c.43619G>A (p.Ser14540Asn)
 gnomAD v4
2g.178565263T>ACA349585630TTN,TTN-AS1c.73165A>T (p.Ser24389Cys)
c.54250A>T (p.Ser18084Cys)
c.54049A>T (p.Ser18017Cys)
c.53674A>T (p.Ser17892Cys)
c.80869A>T (p.Ser26957Cys)
c.75946A>T (p.Ser25316Cys)
n.447-6037T>A
n.2044-17309T>A
c.79966A>T (p.Ser26656Cys)
c.53860A>T (p.Ser17954Cys)
c.53719A>T (p.Ser17907Cys)
c.79762A>T (p.Ser26588Cys)
c.75160A>T (p.Ser25054Cys)
c.75157A>T (p.Ser25053Cys)
c.72199A>T (p.Ser24067Cys)
c.53815A>T (p.Ser17939Cys)
c.75310A>T (p.Ser25104Cys)
c.75307A>T (p.Ser25103Cys)
c.74740A>T (p.Ser24914Cys)
c.72082A>T (p.Ser24028Cys)
c.72001A>T (p.Ser24001Cys)
c.53764A>T (p.Ser17922Cys)
c.43618A>T (p.Ser14540Cys)
2g.178565263T>CCA349585632TTN,TTN-AS1c.73165A>G (p.Ser24389Gly)
c.54250A>G (p.Ser18084Gly)
c.54049A>G (p.Ser18017Gly)
c.53674A>G (p.Ser17892Gly)
c.80869A>G (p.Ser26957Gly)
c.75946A>G (p.Ser25316Gly)
n.447-6037T>C
n.2044-17309T>C
c.79966A>G (p.Ser26656Gly)
c.53860A>G (p.Ser17954Gly)
c.53719A>G (p.Ser17907Gly)
c.79762A>G (p.Ser26588Gly)
c.75160A>G (p.Ser25054Gly)
c.75157A>G (p.Ser25053Gly)
c.72199A>G (p.Ser24067Gly)
c.53815A>G (p.Ser17939Gly)
c.75310A>G (p.Ser25104Gly)
c.75307A>G (p.Ser25103Gly)
c.74740A>G (p.Ser24914Gly)
c.72082A>G (p.Ser24028Gly)
c.72001A>G (p.Ser24001Gly)
c.53764A>G (p.Ser17922Gly)
c.43618A>G (p.Ser14540Gly)
2g.178565263T>GCA349585635TTN,TTN-AS1c.73165A>C (p.Ser24389Arg)
c.54250A>C (p.Ser18084Arg)
c.54049A>C (p.Ser18017Arg)
c.53674A>C (p.Ser17892Arg)
c.80869A>C (p.Ser26957Arg)
c.75946A>C (p.Ser25316Arg)
n.447-6037T>G
n.2044-17309T>G
c.79966A>C (p.Ser26656Arg)
c.53860A>C (p.Ser17954Arg)
c.53719A>C (p.Ser17907Arg)
c.79762A>C (p.Ser26588Arg)
c.75160A>C (p.Ser25054Arg)
c.75157A>C (p.Ser25053Arg)
c.72199A>C (p.Ser24067Arg)
c.53815A>C (p.Ser17939Arg)
c.75310A>C (p.Ser25104Arg)
c.75307A>C (p.Ser25103Arg)
c.74740A>C (p.Ser24914Arg)
c.72082A>C (p.Ser24028Arg)
c.72001A>C (p.Ser24001Arg)
c.53764A>C (p.Ser17922Arg)
c.43618A>C (p.Ser14540Arg)
2g.178565264A=CA1310528934TTN,TTN-AS1c.73164T= (p.Asn24388=)
c.54249T= (p.Asn18083=)
c.54048T= (p.Asn18016=)
c.53673T= (p.Asn17891=)
c.80868T= (p.Asn26956=)
c.75945T= (p.Asn25315=)
n.447-6036A=
n.2044-17308A=
c.79965T= (p.Asn26655=)
c.53859T= (p.Asn17953=)
c.53718T= (p.Asn17906=)
c.79761T= (p.Asn26587=)
c.75159T= (p.Asn25053=)
c.75156T= (p.Asn25052=)
c.72198T= (p.Asn24066=)
c.53814T= (p.Asn17938=)
c.75309T= (p.Asn25103=)
c.75306T= (p.Asn25102=)
c.74739T= (p.Asn24913=)
c.72081T= (p.Asn24027=)
c.72000T= (p.Asn24000=)
c.53763T= (p.Asn17921=)
c.43617T= (p.Asn14539=)

Number of alleles fetched