Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178549757_178549758dupCA2662125195TTN,TTN-AS1c.84261_84262dup (p.Ile28088ThrfsTer15)
c.65346_65347dup (p.Ile21783ThrfsTer15)
c.65145_65146dup (p.Ile21716ThrfsTer15)
c.64770_64771dup (p.Ile21591ThrfsTer15)
c.91965_91966dup (p.Ile30656ThrfsTer15)
c.87042_87043dup (p.Ile29015ThrfsTer15)
n.447-21543_447-21542dup
n.2043+7396_2043+7397dup
c.91062_91063dup (p.Ile30355ThrfsTer15)
c.64956_64957dup (p.Ile21653ThrfsTer15)
c.64815_64816dup (p.Ile21606ThrfsTer15)
c.90858_90859dup (p.Ile30287ThrfsTer15)
c.86256_86257dup (p.Ile28753ThrfsTer15)
c.86253_86254dup (p.Ile28752ThrfsTer15)
c.83295_83296dup (p.Ile27766ThrfsTer15)
c.64911_64912dup (p.Ile21638ThrfsTer15)
c.86406_86407dup (p.Ile28803ThrfsTer15)
c.86403_86404dup (p.Ile28802ThrfsTer15)
c.85836_85837dup (p.Ile28613ThrfsTer15)
c.83178_83179dup (p.Ile27727ThrfsTer15)
c.83097_83098dup (p.Ile27700ThrfsTer15)
c.64860_64861dup (p.Ile21621ThrfsTer15)
c.54714_54715dup (p.Ile18239ThrfsTer15)
 gnomAD v4
2g.178549757G>ACA430244750TTN,TTN-AS1c.84261C>T (p.Tyr28087=)
c.65346C>T (p.Tyr21782=)
c.65145C>T (p.Tyr21715=)
c.64770C>T (p.Tyr21590=)
c.91965C>T (p.Tyr30655=)
c.87042C>T (p.Tyr29014=)
n.447-21543G>A
n.2043+7396G>A
c.91062C>T (p.Tyr30354=)
c.64956C>T (p.Tyr21652=)
c.64815C>T (p.Tyr21605=)
c.90858C>T (p.Tyr30286=)
c.86256C>T (p.Tyr28752=)
c.86253C>T (p.Tyr28751=)
c.83295C>T (p.Tyr27765=)
c.64911C>T (p.Tyr21637=)
c.86406C>T (p.Tyr28802=)
c.86403C>T (p.Tyr28801=)
c.85836C>T (p.Tyr28612=)
c.83178C>T (p.Tyr27726=)
c.83097C>T (p.Tyr27699=)
c.64860C>T (p.Tyr21620=)
c.54714C>T (p.Tyr18238=)
2g.178549757G>CCA349495475TTN,TTN-AS1c.84261C>G (p.Tyr28087Ter)
c.65346C>G (p.Tyr21782Ter)
c.65145C>G (p.Tyr21715Ter)
c.64770C>G (p.Tyr21590Ter)
c.91965C>G (p.Tyr30655Ter)
c.87042C>G (p.Tyr29014Ter)
n.447-21543G>C
n.2043+7396G>C
c.91062C>G (p.Tyr30354Ter)
c.64956C>G (p.Tyr21652Ter)
c.64815C>G (p.Tyr21605Ter)
c.90858C>G (p.Tyr30286Ter)
c.86256C>G (p.Tyr28752Ter)
c.86253C>G (p.Tyr28751Ter)
c.83295C>G (p.Tyr27765Ter)
c.64911C>G (p.Tyr21637Ter)
c.86406C>G (p.Tyr28802Ter)
c.86403C>G (p.Tyr28801Ter)
c.85836C>G (p.Tyr28612Ter)
c.83178C>G (p.Tyr27726Ter)
c.83097C>G (p.Tyr27699Ter)
c.64860C>G (p.Tyr21620Ter)
c.54714C>G (p.Tyr18238Ter)
2g.178549757G=CA1310520094TTN,TTN-AS1c.84261C= (p.Tyr28087=)
c.65346C= (p.Tyr21782=)
c.65145C= (p.Tyr21715=)
c.64770C= (p.Tyr21590=)
c.91965C= (p.Tyr30655=)
c.87042C= (p.Tyr29014=)
n.447-21543G=
n.2043+7396G=
c.91062C= (p.Tyr30354=)
c.64956C= (p.Tyr21652=)
c.64815C= (p.Tyr21605=)
c.90858C= (p.Tyr30286=)
c.86256C= (p.Tyr28752=)
c.86253C= (p.Tyr28751=)
c.83295C= (p.Tyr27765=)
c.64911C= (p.Tyr21637=)
c.86406C= (p.Tyr28802=)
c.86403C= (p.Tyr28801=)
c.85836C= (p.Tyr28612=)
c.83178C= (p.Tyr27726=)
c.83097C= (p.Tyr27699=)
c.64860C= (p.Tyr21620=)
c.54714C= (p.Tyr18238=)
2g.178549757G>TCA16610337TTN,TTN-AS1c.84261C>A (p.Tyr28087Ter)
c.65346C>A (p.Tyr21782Ter)
c.65145C>A (p.Tyr21715Ter)
c.64770C>A (p.Tyr21590Ter)
c.91965C>A (p.Tyr30655Ter)
c.87042C>A (p.Tyr29014Ter)
n.447-21543G>T
n.2043+7396G>T
c.91062C>A (p.Tyr30354Ter)
c.64956C>A (p.Tyr21652Ter)
c.64815C>A (p.Tyr21605Ter)
c.90858C>A (p.Tyr30286Ter)
c.86256C>A (p.Tyr28752Ter)
c.86253C>A (p.Tyr28751Ter)
c.83295C>A (p.Tyr27765Ter)
c.64911C>A (p.Tyr21637Ter)
c.86406C>A (p.Tyr28802Ter)
c.86403C>A (p.Tyr28801Ter)
c.85836C>A (p.Tyr28612Ter)
c.83178C>A (p.Tyr27726Ter)
c.83097C>A (p.Tyr27699Ter)
c.64860C>A (p.Tyr21620Ter)
c.54714C>A (p.Tyr18238Ter)
 ClinVar dbSNP
2g.178549758T>ACA349495481TTN,TTN-AS1c.84260A>T (p.Tyr28087Phe)
c.65345A>T (p.Tyr21782Phe)
c.65144A>T (p.Tyr21715Phe)
c.64769A>T (p.Tyr21590Phe)
c.91964A>T (p.Tyr30655Phe)
c.87041A>T (p.Tyr29014Phe)
n.447-21542T>A
n.2043+7397T>A
c.91061A>T (p.Tyr30354Phe)
c.64955A>T (p.Tyr21652Phe)
c.64814A>T (p.Tyr21605Phe)
c.90857A>T (p.Tyr30286Phe)
c.86255A>T (p.Tyr28752Phe)
c.86252A>T (p.Tyr28751Phe)
c.83294A>T (p.Tyr27765Phe)
c.64910A>T (p.Tyr21637Phe)
c.86405A>T (p.Tyr28802Phe)
c.86402A>T (p.Tyr28801Phe)
c.85835A>T (p.Tyr28612Phe)
c.83177A>T (p.Tyr27726Phe)
c.83096A>T (p.Tyr27699Phe)
c.64859A>T (p.Tyr21620Phe)
c.54713A>T (p.Tyr18238Phe)
 COSMIC COSMIC COSMIC COSMIC
2g.178549758T>CCA349495483TTN,TTN-AS1c.84260A>G (p.Tyr28087Cys)
c.65345A>G (p.Tyr21782Cys)
c.65144A>G (p.Tyr21715Cys)
c.64769A>G (p.Tyr21590Cys)
c.91964A>G (p.Tyr30655Cys)
c.87041A>G (p.Tyr29014Cys)
n.447-21542T>C
n.2043+7397T>C
c.91061A>G (p.Tyr30354Cys)
c.64955A>G (p.Tyr21652Cys)
c.64814A>G (p.Tyr21605Cys)
c.90857A>G (p.Tyr30286Cys)
c.86255A>G (p.Tyr28752Cys)
c.86252A>G (p.Tyr28751Cys)
c.83294A>G (p.Tyr27765Cys)
c.64910A>G (p.Tyr21637Cys)
c.86405A>G (p.Tyr28802Cys)
c.86402A>G (p.Tyr28801Cys)
c.85835A>G (p.Tyr28612Cys)
c.83177A>G (p.Tyr27726Cys)
c.83096A>G (p.Tyr27699Cys)
c.64859A>G (p.Tyr21620Cys)
c.54713A>G (p.Tyr18238Cys)
2g.178549758T>GCA349495485TTN,TTN-AS1c.84260A>C (p.Tyr28087Ser)
c.65345A>C (p.Tyr21782Ser)
c.65144A>C (p.Tyr21715Ser)
c.64769A>C (p.Tyr21590Ser)
c.91964A>C (p.Tyr30655Ser)
c.87041A>C (p.Tyr29014Ser)
n.447-21542T>G
n.2043+7397T>G
c.91061A>C (p.Tyr30354Ser)
c.64955A>C (p.Tyr21652Ser)
c.64814A>C (p.Tyr21605Ser)
c.90857A>C (p.Tyr30286Ser)
c.86255A>C (p.Tyr28752Ser)
c.86252A>C (p.Tyr28751Ser)
c.83294A>C (p.Tyr27765Ser)
c.64910A>C (p.Tyr21637Ser)
c.86405A>C (p.Tyr28802Ser)
c.86402A>C (p.Tyr28801Ser)
c.85835A>C (p.Tyr28612Ser)
c.83177A>C (p.Tyr27726Ser)
c.83096A>C (p.Tyr27699Ser)
c.64859A>C (p.Tyr21620Ser)
c.54713A>C (p.Tyr18238Ser)
2g.178549759A>CCA349495487TTN,TTN-AS1c.84259T>G (p.Tyr28087Asp)
c.65344T>G (p.Tyr21782Asp)
c.65143T>G (p.Tyr21715Asp)
c.64768T>G (p.Tyr21590Asp)
c.91963T>G (p.Tyr30655Asp)
c.87040T>G (p.Tyr29014Asp)
n.447-21541A>C
n.2043+7398A>C
c.91060T>G (p.Tyr30354Asp)
c.64954T>G (p.Tyr21652Asp)
c.64813T>G (p.Tyr21605Asp)
c.90856T>G (p.Tyr30286Asp)
c.86254T>G (p.Tyr28752Asp)
c.86251T>G (p.Tyr28751Asp)
c.83293T>G (p.Tyr27765Asp)
c.64909T>G (p.Tyr21637Asp)
c.86404T>G (p.Tyr28802Asp)
c.86401T>G (p.Tyr28801Asp)
c.85834T>G (p.Tyr28612Asp)
c.83176T>G (p.Tyr27726Asp)
c.83095T>G (p.Tyr27699Asp)
c.64858T>G (p.Tyr21620Asp)
c.54712T>G (p.Tyr18238Asp)
2g.178549759A>GCA349495489TTN,TTN-AS1c.84259T>C (p.Tyr28087His)
c.65344T>C (p.Tyr21782His)
c.65143T>C (p.Tyr21715His)
c.64768T>C (p.Tyr21590His)
c.91963T>C (p.Tyr30655His)
c.87040T>C (p.Tyr29014His)
n.447-21541A>G
n.2043+7398A>G
c.91060T>C (p.Tyr30354His)
c.64954T>C (p.Tyr21652His)
c.64813T>C (p.Tyr21605His)
c.90856T>C (p.Tyr30286His)
c.86254T>C (p.Tyr28752His)
c.86251T>C (p.Tyr28751His)
c.83293T>C (p.Tyr27765His)
c.64909T>C (p.Tyr21637His)
c.86404T>C (p.Tyr28802His)
c.86401T>C (p.Tyr28801His)
c.85834T>C (p.Tyr28612His)
c.83176T>C (p.Tyr27726His)
c.83095T>C (p.Tyr27699His)
c.64858T>C (p.Tyr21620His)
c.54712T>C (p.Tyr18238His)
 COSMIC COSMIC COSMIC COSMIC
2g.178549759A>TCA349495490TTN,TTN-AS1c.84259T>A (p.Tyr28087Asn)
c.65344T>A (p.Tyr21782Asn)
c.65143T>A (p.Tyr21715Asn)
c.64768T>A (p.Tyr21590Asn)
c.91963T>A (p.Tyr30655Asn)
c.87040T>A (p.Tyr29014Asn)
n.447-21541A>T
n.2043+7398A>T
c.91060T>A (p.Tyr30354Asn)
c.64954T>A (p.Tyr21652Asn)
c.64813T>A (p.Tyr21605Asn)
c.90856T>A (p.Tyr30286Asn)
c.86254T>A (p.Tyr28752Asn)
c.86251T>A (p.Tyr28751Asn)
c.83293T>A (p.Tyr27765Asn)
c.64909T>A (p.Tyr21637Asn)
c.86404T>A (p.Tyr28802Asn)
c.86401T>A (p.Tyr28801Asn)
c.85834T>A (p.Tyr28612Asn)
c.83176T>A (p.Tyr27726Asn)
c.83095T>A (p.Tyr27699Asn)
c.64858T>A (p.Tyr21620Asn)
c.54712T>A (p.Tyr18238Asn)
2g.178549760G>ACA430244760TTN,TTN-AS1c.84258C>T (p.His28086=)
c.65343C>T (p.His21781=)
c.65142C>T (p.His21714=)
c.64767C>T (p.His21589=)
c.91962C>T (p.His30654=)
c.87039C>T (p.His29013=)
n.447-21540G>A
n.2043+7399G>A
c.91059C>T (p.His30353=)
c.64953C>T (p.His21651=)
c.64812C>T (p.His21604=)
c.90855C>T (p.His30285=)
c.86253C>T (p.His28751=)
c.86250C>T (p.His28750=)
c.83292C>T (p.His27764=)
c.64908C>T (p.His21636=)
c.86403C>T (p.His28801=)
c.86400C>T (p.His28800=)
c.85833C>T (p.His28611=)
c.83175C>T (p.His27725=)
c.83094C>T (p.His27698=)
c.64857C>T (p.His21619=)
c.54711C>T (p.His18237=)
2g.178549760G>CCA349495494TTN,TTN-AS1c.84258C>G (p.His28086Gln)
c.65343C>G (p.His21781Gln)
c.65142C>G (p.His21714Gln)
c.64767C>G (p.His21589Gln)
c.91962C>G (p.His30654Gln)
c.87039C>G (p.His29013Gln)
n.447-21540G>C
n.2043+7399G>C
c.91059C>G (p.His30353Gln)
c.64953C>G (p.His21651Gln)
c.64812C>G (p.His21604Gln)
c.90855C>G (p.His30285Gln)
c.86253C>G (p.His28751Gln)
c.86250C>G (p.His28750Gln)
c.83292C>G (p.His27764Gln)
c.64908C>G (p.His21636Gln)
c.86403C>G (p.His28801Gln)
c.86400C>G (p.His28800Gln)
c.85833C>G (p.His28611Gln)
c.83175C>G (p.His27725Gln)
c.83094C>G (p.His27698Gln)
c.64857C>G (p.His21619Gln)
c.54711C>G (p.His18237Gln)
2g.178549760G>TCA349495496TTN,TTN-AS1c.84258C>A (p.His28086Gln)
c.65343C>A (p.His21781Gln)
c.65142C>A (p.His21714Gln)
c.64767C>A (p.His21589Gln)
c.91962C>A (p.His30654Gln)
c.87039C>A (p.His29013Gln)
n.447-21540G>T
n.2043+7399G>T
c.91059C>A (p.His30353Gln)
c.64953C>A (p.His21651Gln)
c.64812C>A (p.His21604Gln)
c.90855C>A (p.His30285Gln)
c.86253C>A (p.His28751Gln)
c.86250C>A (p.His28750Gln)
c.83292C>A (p.His27764Gln)
c.64908C>A (p.His21636Gln)
c.86403C>A (p.His28801Gln)
c.86400C>A (p.His28800Gln)
c.85833C>A (p.His28611Gln)
c.83175C>A (p.His27725Gln)
c.83094C>A (p.His27698Gln)
c.64857C>A (p.His21619Gln)
c.54711C>A (p.His18237Gln)
2g.178549761T>ACA349495506TTN,TTN-AS1c.84257A>T (p.His28086Leu)
c.65342A>T (p.His21781Leu)
c.65141A>T (p.His21714Leu)
c.64766A>T (p.His21589Leu)
c.91961A>T (p.His30654Leu)
c.87038A>T (p.His29013Leu)
n.447-21539T>A
n.2043+7400T>A
c.91058A>T (p.His30353Leu)
c.64952A>T (p.His21651Leu)
c.64811A>T (p.His21604Leu)
c.90854A>T (p.His30285Leu)
c.86252A>T (p.His28751Leu)
c.86249A>T (p.His28750Leu)
c.83291A>T (p.His27764Leu)
c.64907A>T (p.His21636Leu)
c.86402A>T (p.His28801Leu)
c.86399A>T (p.His28800Leu)
c.85832A>T (p.His28611Leu)
c.83174A>T (p.His27725Leu)
c.83093A>T (p.His27698Leu)
c.64856A>T (p.His21619Leu)
c.54710A>T (p.His18237Leu)
2g.178549761T>CCA349495504TTN,TTN-AS1c.84257A>G (p.His28086Arg)
c.65342A>G (p.His21781Arg)
c.65141A>G (p.His21714Arg)
c.64766A>G (p.His21589Arg)
c.91961A>G (p.His30654Arg)
c.87038A>G (p.His29013Arg)
n.447-21539T>C
n.2043+7400T>C
c.91058A>G (p.His30353Arg)
c.64952A>G (p.His21651Arg)
c.64811A>G (p.His21604Arg)
c.90854A>G (p.His30285Arg)
c.86252A>G (p.His28751Arg)
c.86249A>G (p.His28750Arg)
c.83291A>G (p.His27764Arg)
c.64907A>G (p.His21636Arg)
c.86402A>G (p.His28801Arg)
c.86399A>G (p.His28800Arg)
c.85832A>G (p.His28611Arg)
c.83174A>G (p.His27725Arg)
c.83093A>G (p.His27698Arg)
c.64856A>G (p.His21619Arg)
c.54710A>G (p.His18237Arg)
2g.178549761T>GCA349495500TTN,TTN-AS1c.84257A>C (p.His28086Pro)
c.65342A>C (p.His21781Pro)
c.65141A>C (p.His21714Pro)
c.64766A>C (p.His21589Pro)
c.91961A>C (p.His30654Pro)
c.87038A>C (p.His29013Pro)
n.447-21539T>G
n.2043+7400T>G
c.91058A>C (p.His30353Pro)
c.64952A>C (p.His21651Pro)
c.64811A>C (p.His21604Pro)
c.90854A>C (p.His30285Pro)
c.86252A>C (p.His28751Pro)
c.86249A>C (p.His28750Pro)
c.83291A>C (p.His27764Pro)
c.64907A>C (p.His21636Pro)
c.86402A>C (p.His28801Pro)
c.86399A>C (p.His28800Pro)
c.85832A>C (p.His28611Pro)
c.83174A>C (p.His27725Pro)
c.83093A>C (p.His27698Pro)
c.64856A>C (p.His21619Pro)
c.54710A>C (p.His18237Pro)
2g.178549762G>ACA349495507TTN,TTN-AS1c.84256C>T (p.His28086Tyr)
c.65341C>T (p.His21781Tyr)
c.65140C>T (p.His21714Tyr)
c.64765C>T (p.His21589Tyr)
c.91960C>T (p.His30654Tyr)
c.87037C>T (p.His29013Tyr)
n.447-21538G>A
n.2043+7401G>A
c.91057C>T (p.His30353Tyr)
c.64951C>T (p.His21651Tyr)
c.64810C>T (p.His21604Tyr)
c.90853C>T (p.His30285Tyr)
c.86251C>T (p.His28751Tyr)
c.86248C>T (p.His28750Tyr)
c.83290C>T (p.His27764Tyr)
c.64906C>T (p.His21636Tyr)
c.86401C>T (p.His28801Tyr)
c.86398C>T (p.His28800Tyr)
c.85831C>T (p.His28611Tyr)
c.83173C>T (p.His27725Tyr)
c.83092C>T (p.His27698Tyr)
c.64855C>T (p.His21619Tyr)
c.54709C>T (p.His18237Tyr)
 gnomAD v4
2g.178549762G>CCA349495510TTN,TTN-AS1c.84256C>G (p.His28086Asp)
c.65341C>G (p.His21781Asp)
c.65140C>G (p.His21714Asp)
c.64765C>G (p.His21589Asp)
c.91960C>G (p.His30654Asp)
c.87037C>G (p.His29013Asp)
n.447-21538G>C
n.2043+7401G>C
c.91057C>G (p.His30353Asp)
c.64951C>G (p.His21651Asp)
c.64810C>G (p.His21604Asp)
c.90853C>G (p.His30285Asp)
c.86251C>G (p.His28751Asp)
c.86248C>G (p.His28750Asp)
c.83290C>G (p.His27764Asp)
c.64906C>G (p.His21636Asp)
c.86401C>G (p.His28801Asp)
c.86398C>G (p.His28800Asp)
c.85831C>G (p.His28611Asp)
c.83173C>G (p.His27725Asp)
c.83092C>G (p.His27698Asp)
c.64855C>G (p.His21619Asp)
c.54709C>G (p.His18237Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178549762G=CA1310520095TTN,TTN-AS1c.84256C= (p.His28086=)
c.65341C= (p.His21781=)
c.65140C= (p.His21714=)
c.64765C= (p.His21589=)
c.91960C= (p.His30654=)
c.87037C= (p.His29013=)
n.447-21538G=
n.2043+7401G=
c.91057C= (p.His30353=)
c.64951C= (p.His21651=)
c.64810C= (p.His21604=)
c.90853C= (p.His30285=)
c.86251C= (p.His28751=)
c.86248C= (p.His28750=)
c.83290C= (p.His27764=)
c.64906C= (p.His21636=)
c.86401C= (p.His28801=)
c.86398C= (p.His28800=)
c.85831C= (p.His28611=)
c.83173C= (p.His27725=)
c.83092C= (p.His27698=)
c.64855C= (p.His21619=)
c.54709C= (p.His18237=)
2g.178549762G>TCA1987526TTN,TTN-AS1c.84256C>A (p.His28086Asn)
c.65341C>A (p.His21781Asn)
c.65140C>A (p.His21714Asn)
c.64765C>A (p.His21589Asn)
c.91960C>A (p.His30654Asn)
c.87037C>A (p.His29013Asn)
n.447-21538G>T
n.2043+7401G>T
c.91057C>A (p.His30353Asn)
c.64951C>A (p.His21651Asn)
c.64810C>A (p.His21604Asn)
c.90853C>A (p.His30285Asn)
c.86251C>A (p.His28751Asn)
c.86248C>A (p.His28750Asn)
c.83290C>A (p.His27764Asn)
c.64906C>A (p.His21636Asn)
c.86401C>A (p.His28801Asn)
c.86398C>A (p.His28800Asn)
c.85831C>A (p.His28611Asn)
c.83173C>A (p.His27725Asn)
c.83092C>A (p.His27698Asn)
c.64855C>A (p.His21619Asn)
c.54709C>A (p.His18237Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549763G>ACA430244766TTN,TTN-AS1c.84255C>T (p.Thr28085=)
c.65340C>T (p.Thr21780=)
c.65139C>T (p.Thr21713=)
c.64764C>T (p.Thr21588=)
c.91959C>T (p.Thr30653=)
c.87036C>T (p.Thr29012=)
n.447-21537G>A
n.2043+7402G>A
c.91056C>T (p.Thr30352=)
c.64950C>T (p.Thr21650=)
c.64809C>T (p.Thr21603=)
c.90852C>T (p.Thr30284=)
c.86250C>T (p.Thr28750=)
c.86247C>T (p.Thr28749=)
c.83289C>T (p.Thr27763=)
c.64905C>T (p.Thr21635=)
c.86400C>T (p.Thr28800=)
c.86397C>T (p.Thr28799=)
c.85830C>T (p.Thr28610=)
c.83172C>T (p.Thr27724=)
c.83091C>T (p.Thr27697=)
c.64854C>T (p.Thr21618=)
c.54708C>T (p.Thr18236=)
 COSMIC COSMIC COSMIC COSMIC
2g.178549763G>CCA430244768TTN,TTN-AS1c.84255C>G (p.Thr28085=)
c.65340C>G (p.Thr21780=)
c.65139C>G (p.Thr21713=)
c.64764C>G (p.Thr21588=)
c.91959C>G (p.Thr30653=)
c.87036C>G (p.Thr29012=)
n.447-21537G>C
n.2043+7402G>C
c.91056C>G (p.Thr30352=)
c.64950C>G (p.Thr21650=)
c.64809C>G (p.Thr21603=)
c.90852C>G (p.Thr30284=)
c.86250C>G (p.Thr28750=)
c.86247C>G (p.Thr28749=)
c.83289C>G (p.Thr27763=)
c.64905C>G (p.Thr21635=)
c.86400C>G (p.Thr28800=)
c.86397C>G (p.Thr28799=)
c.85830C>G (p.Thr28610=)
c.83172C>G (p.Thr27724=)
c.83091C>G (p.Thr27697=)
c.64854C>G (p.Thr21618=)
c.54708C>G (p.Thr18236=)
2g.178549763G>TCA430244769TTN,TTN-AS1c.84255C>A (p.Thr28085=)
c.65340C>A (p.Thr21780=)
c.65139C>A (p.Thr21713=)
c.64764C>A (p.Thr21588=)
c.91959C>A (p.Thr30653=)
c.87036C>A (p.Thr29012=)
n.447-21537G>T
n.2043+7402G>T
c.91056C>A (p.Thr30352=)
c.64950C>A (p.Thr21650=)
c.64809C>A (p.Thr21603=)
c.90852C>A (p.Thr30284=)
c.86250C>A (p.Thr28750=)
c.86247C>A (p.Thr28749=)
c.83289C>A (p.Thr27763=)
c.64905C>A (p.Thr21635=)
c.86400C>A (p.Thr28800=)
c.86397C>A (p.Thr28799=)
c.85830C>A (p.Thr28610=)
c.83172C>A (p.Thr27724=)
c.83091C>A (p.Thr27697=)
c.64854C>A (p.Thr21618=)
c.54708C>A (p.Thr18236=)
 COSMIC COSMIC COSMIC COSMIC
2g.178549764G>ACA349495511TTN,TTN-AS1c.84254C>T (p.Thr28085Ile)
c.65339C>T (p.Thr21780Ile)
c.65138C>T (p.Thr21713Ile)
c.64763C>T (p.Thr21588Ile)
c.91958C>T (p.Thr30653Ile)
c.87035C>T (p.Thr29012Ile)
n.447-21536G>A
n.2043+7403G>A
c.91055C>T (p.Thr30352Ile)
c.64949C>T (p.Thr21650Ile)
c.64808C>T (p.Thr21603Ile)
c.90851C>T (p.Thr30284Ile)
c.86249C>T (p.Thr28750Ile)
c.86246C>T (p.Thr28749Ile)
c.83288C>T (p.Thr27763Ile)
c.64904C>T (p.Thr21635Ile)
c.86399C>T (p.Thr28800Ile)
c.86396C>T (p.Thr28799Ile)
c.85829C>T (p.Thr28610Ile)
c.83171C>T (p.Thr27724Ile)
c.83090C>T (p.Thr27697Ile)
c.64853C>T (p.Thr21618Ile)
c.54707C>T (p.Thr18236Ile)
 gnomAD v4
2g.178549764G>CCA349495513TTN,TTN-AS1c.84254C>G (p.Thr28085Ser)
c.65339C>G (p.Thr21780Ser)
c.65138C>G (p.Thr21713Ser)
c.64763C>G (p.Thr21588Ser)
c.91958C>G (p.Thr30653Ser)
c.87035C>G (p.Thr29012Ser)
n.447-21536G>C
n.2043+7403G>C
c.91055C>G (p.Thr30352Ser)
c.64949C>G (p.Thr21650Ser)
c.64808C>G (p.Thr21603Ser)
c.90851C>G (p.Thr30284Ser)
c.86249C>G (p.Thr28750Ser)
c.86246C>G (p.Thr28749Ser)
c.83288C>G (p.Thr27763Ser)
c.64904C>G (p.Thr21635Ser)
c.86399C>G (p.Thr28800Ser)
c.86396C>G (p.Thr28799Ser)
c.85829C>G (p.Thr28610Ser)
c.83171C>G (p.Thr27724Ser)
c.83090C>G (p.Thr27697Ser)
c.64853C>G (p.Thr21618Ser)
c.54707C>G (p.Thr18236Ser)
2g.178549764G>TCA349495516TTN,TTN-AS1c.84254C>A (p.Thr28085Asn)
c.65339C>A (p.Thr21780Asn)
c.65138C>A (p.Thr21713Asn)
c.64763C>A (p.Thr21588Asn)
c.91958C>A (p.Thr30653Asn)
c.87035C>A (p.Thr29012Asn)
n.447-21536G>T
n.2043+7403G>T
c.91055C>A (p.Thr30352Asn)
c.64949C>A (p.Thr21650Asn)
c.64808C>A (p.Thr21603Asn)
c.90851C>A (p.Thr30284Asn)
c.86249C>A (p.Thr28750Asn)
c.86246C>A (p.Thr28749Asn)
c.83288C>A (p.Thr27763Asn)
c.64904C>A (p.Thr21635Asn)
c.86399C>A (p.Thr28800Asn)
c.86396C>A (p.Thr28799Asn)
c.85829C>A (p.Thr28610Asn)
c.83171C>A (p.Thr27724Asn)
c.83090C>A (p.Thr27697Asn)
c.64853C>A (p.Thr21618Asn)
c.54707C>A (p.Thr18236Asn)
2g.178549765T>ACA349495522TTN,TTN-AS1c.84253A>T (p.Thr28085Ser)
c.65338A>T (p.Thr21780Ser)
c.65137A>T (p.Thr21713Ser)
c.64762A>T (p.Thr21588Ser)
c.91957A>T (p.Thr30653Ser)
c.87034A>T (p.Thr29012Ser)
n.447-21535T>A
n.2043+7404T>A
c.91054A>T (p.Thr30352Ser)
c.64948A>T (p.Thr21650Ser)
c.64807A>T (p.Thr21603Ser)
c.90850A>T (p.Thr30284Ser)
c.86248A>T (p.Thr28750Ser)
c.86245A>T (p.Thr28749Ser)
c.83287A>T (p.Thr27763Ser)
c.64903A>T (p.Thr21635Ser)
c.86398A>T (p.Thr28800Ser)
c.86395A>T (p.Thr28799Ser)
c.85828A>T (p.Thr28610Ser)
c.83170A>T (p.Thr27724Ser)
c.83089A>T (p.Thr27697Ser)
c.64852A>T (p.Thr21618Ser)
c.54706A>T (p.Thr18236Ser)
2g.178549765T>CCA349495523TTN,TTN-AS1c.84253A>G (p.Thr28085Ala)
c.65338A>G (p.Thr21780Ala)
c.65137A>G (p.Thr21713Ala)
c.64762A>G (p.Thr21588Ala)
c.91957A>G (p.Thr30653Ala)
c.87034A>G (p.Thr29012Ala)
n.447-21535T>C
n.2043+7404T>C
c.91054A>G (p.Thr30352Ala)
c.64948A>G (p.Thr21650Ala)
c.64807A>G (p.Thr21603Ala)
c.90850A>G (p.Thr30284Ala)
c.86248A>G (p.Thr28750Ala)
c.86245A>G (p.Thr28749Ala)
c.83287A>G (p.Thr27763Ala)
c.64903A>G (p.Thr21635Ala)
c.86398A>G (p.Thr28800Ala)
c.86395A>G (p.Thr28799Ala)
c.85828A>G (p.Thr28610Ala)
c.83170A>G (p.Thr27724Ala)
c.83089A>G (p.Thr27697Ala)
c.64852A>G (p.Thr21618Ala)
c.54706A>G (p.Thr18236Ala)
2g.178549765T>GCA349495524TTN,TTN-AS1c.84253A>C (p.Thr28085Pro)
c.65338A>C (p.Thr21780Pro)
c.65137A>C (p.Thr21713Pro)
c.64762A>C (p.Thr21588Pro)
c.91957A>C (p.Thr30653Pro)
c.87034A>C (p.Thr29012Pro)
n.447-21535T>G
n.2043+7404T>G
c.91054A>C (p.Thr30352Pro)
c.64948A>C (p.Thr21650Pro)
c.64807A>C (p.Thr21603Pro)
c.90850A>C (p.Thr30284Pro)
c.86248A>C (p.Thr28750Pro)
c.86245A>C (p.Thr28749Pro)
c.83287A>C (p.Thr27763Pro)
c.64903A>C (p.Thr21635Pro)
c.86398A>C (p.Thr28800Pro)
c.86395A>C (p.Thr28799Pro)
c.85828A>C (p.Thr28610Pro)
c.83170A>C (p.Thr27724Pro)
c.83089A>C (p.Thr27697Pro)
c.64852A>C (p.Thr21618Pro)
c.54706A>C (p.Thr18236Pro)
2g.178549766T>ACA430244774TTN,TTN-AS1c.84252A>T (p.Ile28084=)
c.65337A>T (p.Ile21779=)
c.65136A>T (p.Ile21712=)
c.64761A>T (p.Ile21587=)
c.91956A>T (p.Ile30652=)
c.87033A>T (p.Ile29011=)
n.447-21534T>A
n.2043+7405T>A
c.91053A>T (p.Ile30351=)
c.64947A>T (p.Ile21649=)
c.64806A>T (p.Ile21602=)
c.90849A>T (p.Ile30283=)
c.86247A>T (p.Ile28749=)
c.86244A>T (p.Ile28748=)
c.83286A>T (p.Ile27762=)
c.64902A>T (p.Ile21634=)
c.86397A>T (p.Ile28799=)
c.86394A>T (p.Ile28798=)
c.85827A>T (p.Ile28609=)
c.83169A>T (p.Ile27723=)
c.83088A>T (p.Ile27696=)
c.64851A>T (p.Ile21617=)
c.54705A>T (p.Ile18235=)
2g.178549766T>CCA349495526TTN,TTN-AS1c.84252A>G (p.Ile28084Met)
c.65337A>G (p.Ile21779Met)
c.65136A>G (p.Ile21712Met)
c.64761A>G (p.Ile21587Met)
c.91956A>G (p.Ile30652Met)
c.87033A>G (p.Ile29011Met)
n.447-21534T>C
n.2043+7405T>C
c.91053A>G (p.Ile30351Met)
c.64947A>G (p.Ile21649Met)
c.64806A>G (p.Ile21602Met)
c.90849A>G (p.Ile30283Met)
c.86247A>G (p.Ile28749Met)
c.86244A>G (p.Ile28748Met)
c.83286A>G (p.Ile27762Met)
c.64902A>G (p.Ile21634Met)
c.86397A>G (p.Ile28799Met)
c.86394A>G (p.Ile28798Met)
c.85827A>G (p.Ile28609Met)
c.83169A>G (p.Ile27723Met)
c.83088A>G (p.Ile27696Met)
c.64851A>G (p.Ile21617Met)
c.54705A>G (p.Ile18235Met)
2g.178549766T>GCA430244775TTN,TTN-AS1c.84252A>C (p.Ile28084=)
c.65337A>C (p.Ile21779=)
c.65136A>C (p.Ile21712=)
c.64761A>C (p.Ile21587=)
c.91956A>C (p.Ile30652=)
c.87033A>C (p.Ile29011=)
n.447-21534T>G
n.2043+7405T>G
c.91053A>C (p.Ile30351=)
c.64947A>C (p.Ile21649=)
c.64806A>C (p.Ile21602=)
c.90849A>C (p.Ile30283=)
c.86247A>C (p.Ile28749=)
c.86244A>C (p.Ile28748=)
c.83286A>C (p.Ile27762=)
c.64902A>C (p.Ile21634=)
c.86397A>C (p.Ile28799=)
c.86394A>C (p.Ile28798=)
c.85827A>C (p.Ile28609=)
c.83169A>C (p.Ile27723=)
c.83088A>C (p.Ile27696=)
c.64851A>C (p.Ile21617=)
c.54705A>C (p.Ile18235=)
2g.178549767A>CCA349495530TTN,TTN-AS1c.84251T>G (p.Ile28084Arg)
c.65336T>G (p.Ile21779Arg)
c.65135T>G (p.Ile21712Arg)
c.64760T>G (p.Ile21587Arg)
c.91955T>G (p.Ile30652Arg)
c.87032T>G (p.Ile29011Arg)
n.447-21533A>C
n.2043+7406A>C
c.91052T>G (p.Ile30351Arg)
c.64946T>G (p.Ile21649Arg)
c.64805T>G (p.Ile21602Arg)
c.90848T>G (p.Ile30283Arg)
c.86246T>G (p.Ile28749Arg)
c.86243T>G (p.Ile28748Arg)
c.83285T>G (p.Ile27762Arg)
c.64901T>G (p.Ile21634Arg)
c.86396T>G (p.Ile28799Arg)
c.86393T>G (p.Ile28798Arg)
c.85826T>G (p.Ile28609Arg)
c.83168T>G (p.Ile27723Arg)
c.83087T>G (p.Ile27696Arg)
c.64850T>G (p.Ile21617Arg)
c.54704T>G (p.Ile18235Arg)
2g.178549767A>GCA349495533TTN,TTN-AS1c.84251T>C (p.Ile28084Thr)
c.65336T>C (p.Ile21779Thr)
c.65135T>C (p.Ile21712Thr)
c.64760T>C (p.Ile21587Thr)
c.91955T>C (p.Ile30652Thr)
c.87032T>C (p.Ile29011Thr)
n.447-21533A>G
n.2043+7406A>G
c.91052T>C (p.Ile30351Thr)
c.64946T>C (p.Ile21649Thr)
c.64805T>C (p.Ile21602Thr)
c.90848T>C (p.Ile30283Thr)
c.86246T>C (p.Ile28749Thr)
c.86243T>C (p.Ile28748Thr)
c.83285T>C (p.Ile27762Thr)
c.64901T>C (p.Ile21634Thr)
c.86396T>C (p.Ile28799Thr)
c.86393T>C (p.Ile28798Thr)
c.85826T>C (p.Ile28609Thr)
c.83168T>C (p.Ile27723Thr)
c.83087T>C (p.Ile27696Thr)
c.64850T>C (p.Ile21617Thr)
c.54704T>C (p.Ile18235Thr)
2g.178549767A>TCA349495534TTN,TTN-AS1c.84251T>A (p.Ile28084Lys)
c.65336T>A (p.Ile21779Lys)
c.65135T>A (p.Ile21712Lys)
c.64760T>A (p.Ile21587Lys)
c.91955T>A (p.Ile30652Lys)
c.87032T>A (p.Ile29011Lys)
n.447-21533A>T
n.2043+7406A>T
c.91052T>A (p.Ile30351Lys)
c.64946T>A (p.Ile21649Lys)
c.64805T>A (p.Ile21602Lys)
c.90848T>A (p.Ile30283Lys)
c.86246T>A (p.Ile28749Lys)
c.86243T>A (p.Ile28748Lys)
c.83285T>A (p.Ile27762Lys)
c.64901T>A (p.Ile21634Lys)
c.86396T>A (p.Ile28799Lys)
c.86393T>A (p.Ile28798Lys)
c.85826T>A (p.Ile28609Lys)
c.83168T>A (p.Ile27723Lys)
c.83087T>A (p.Ile27696Lys)
c.64850T>A (p.Ile21617Lys)
c.54704T>A (p.Ile18235Lys)
2g.178549768T>ACA349495539TTN,TTN-AS1c.84250A>T (p.Ile28084Leu)
c.65335A>T (p.Ile21779Leu)
c.65134A>T (p.Ile21712Leu)
c.64759A>T (p.Ile21587Leu)
c.91954A>T (p.Ile30652Leu)
c.87031A>T (p.Ile29011Leu)
n.447-21532T>A
n.2043+7407T>A
c.91051A>T (p.Ile30351Leu)
c.64945A>T (p.Ile21649Leu)
c.64804A>T (p.Ile21602Leu)
c.90847A>T (p.Ile30283Leu)
c.86245A>T (p.Ile28749Leu)
c.86242A>T (p.Ile28748Leu)
c.83284A>T (p.Ile27762Leu)
c.64900A>T (p.Ile21634Leu)
c.86395A>T (p.Ile28799Leu)
c.86392A>T (p.Ile28798Leu)
c.85825A>T (p.Ile28609Leu)
c.83167A>T (p.Ile27723Leu)
c.83086A>T (p.Ile27696Leu)
c.64849A>T (p.Ile21617Leu)
c.54703A>T (p.Ile18235Leu)
2g.178549768T>CCA349495538TTN,TTN-AS1c.84250A>G (p.Ile28084Val)
c.65335A>G (p.Ile21779Val)
c.65134A>G (p.Ile21712Val)
c.64759A>G (p.Ile21587Val)
c.91954A>G (p.Ile30652Val)
c.87031A>G (p.Ile29011Val)
n.447-21532T>C
n.2043+7407T>C
c.91051A>G (p.Ile30351Val)
c.64945A>G (p.Ile21649Val)
c.64804A>G (p.Ile21602Val)
c.90847A>G (p.Ile30283Val)
c.86245A>G (p.Ile28749Val)
c.86242A>G (p.Ile28748Val)
c.83284A>G (p.Ile27762Val)
c.64900A>G (p.Ile21634Val)
c.86395A>G (p.Ile28799Val)
c.86392A>G (p.Ile28798Val)
c.85825A>G (p.Ile28609Val)
c.83167A>G (p.Ile27723Val)
c.83086A>G (p.Ile27696Val)
c.64849A>G (p.Ile21617Val)
c.54703A>G (p.Ile18235Val)
2g.178549768T>GCA349495536TTN,TTN-AS1c.84250A>C (p.Ile28084Leu)
c.65335A>C (p.Ile21779Leu)
c.65134A>C (p.Ile21712Leu)
c.64759A>C (p.Ile21587Leu)
c.91954A>C (p.Ile30652Leu)
c.87031A>C (p.Ile29011Leu)
n.447-21532T>G
n.2043+7407T>G
c.91051A>C (p.Ile30351Leu)
c.64945A>C (p.Ile21649Leu)
c.64804A>C (p.Ile21602Leu)
c.90847A>C (p.Ile30283Leu)
c.86245A>C (p.Ile28749Leu)
c.86242A>C (p.Ile28748Leu)
c.83284A>C (p.Ile27762Leu)
c.64900A>C (p.Ile21634Leu)
c.86395A>C (p.Ile28799Leu)
c.86392A>C (p.Ile28798Leu)
c.85825A>C (p.Ile28609Leu)
c.83167A>C (p.Ile27723Leu)
c.83086A>C (p.Ile27696Leu)
c.64849A>C (p.Ile21617Leu)
c.54703A>C (p.Ile18235Leu)
2g.178549769G>ACA430244779TTN,TTN-AS1c.84249C>T (p.Pro28083=)
c.65334C>T (p.Pro21778=)
c.65133C>T (p.Pro21711=)
c.64758C>T (p.Pro21586=)
c.91953C>T (p.Pro30651=)
c.87030C>T (p.Pro29010=)
n.447-21531G>A
n.2043+7408G>A
c.91050C>T (p.Pro30350=)
c.64944C>T (p.Pro21648=)
c.64803C>T (p.Pro21601=)
c.90846C>T (p.Pro30282=)
c.86244C>T (p.Pro28748=)
c.86241C>T (p.Pro28747=)
c.83283C>T (p.Pro27761=)
c.64899C>T (p.Pro21633=)
c.86394C>T (p.Pro28798=)
c.86391C>T (p.Pro28797=)
c.85824C>T (p.Pro28608=)
c.83166C>T (p.Pro27722=)
c.83085C>T (p.Pro27695=)
c.64848C>T (p.Pro21616=)
c.54702C>T (p.Pro18234=)
 dbSNP
2g.178549769G>CCA430244782TTN,TTN-AS1c.84249C>G (p.Pro28083=)
c.65334C>G (p.Pro21778=)
c.65133C>G (p.Pro21711=)
c.64758C>G (p.Pro21586=)
c.91953C>G (p.Pro30651=)
c.87030C>G (p.Pro29010=)
n.447-21531G>C
n.2043+7408G>C
c.91050C>G (p.Pro30350=)
c.64944C>G (p.Pro21648=)
c.64803C>G (p.Pro21601=)
c.90846C>G (p.Pro30282=)
c.86244C>G (p.Pro28748=)
c.86241C>G (p.Pro28747=)
c.83283C>G (p.Pro27761=)
c.64899C>G (p.Pro21633=)
c.86394C>G (p.Pro28798=)
c.86391C>G (p.Pro28797=)
c.85824C>G (p.Pro28608=)
c.83166C>G (p.Pro27722=)
c.83085C>G (p.Pro27695=)
c.64848C>G (p.Pro21616=)
c.54702C>G (p.Pro18234=)
2g.178549769G=CA1310520096TTN,TTN-AS1c.84249C= (p.Pro28083=)
c.65334C= (p.Pro21778=)
c.65133C= (p.Pro21711=)
c.64758C= (p.Pro21586=)
c.91953C= (p.Pro30651=)
c.87030C= (p.Pro29010=)
n.447-21531G=
n.2043+7408G=
c.91050C= (p.Pro30350=)
c.64944C= (p.Pro21648=)
c.64803C= (p.Pro21601=)
c.90846C= (p.Pro30282=)
c.86244C= (p.Pro28748=)
c.86241C= (p.Pro28747=)
c.83283C= (p.Pro27761=)
c.64899C= (p.Pro21633=)
c.86394C= (p.Pro28798=)
c.86391C= (p.Pro28797=)
c.85824C= (p.Pro28608=)
c.83166C= (p.Pro27722=)
c.83085C= (p.Pro27695=)
c.64848C= (p.Pro21616=)
c.54702C= (p.Pro18234=)
2g.178549769G>TCA430244784TTN,TTN-AS1c.84249C>A (p.Pro28083=)
c.65334C>A (p.Pro21778=)
c.65133C>A (p.Pro21711=)
c.64758C>A (p.Pro21586=)
c.91953C>A (p.Pro30651=)
c.87030C>A (p.Pro29010=)
n.447-21531G>T
n.2043+7408G>T
c.91050C>A (p.Pro30350=)
c.64944C>A (p.Pro21648=)
c.64803C>A (p.Pro21601=)
c.90846C>A (p.Pro30282=)
c.86244C>A (p.Pro28748=)
c.86241C>A (p.Pro28747=)
c.83283C>A (p.Pro27761=)
c.64899C>A (p.Pro21633=)
c.86394C>A (p.Pro28798=)
c.86391C>A (p.Pro28797=)
c.85824C>A (p.Pro28608=)
c.83166C>A (p.Pro27722=)
c.83085C>A (p.Pro27695=)
c.64848C>A (p.Pro21616=)
c.54702C>A (p.Pro18234=)
2g.178549770G>ACA349495544TTN,TTN-AS1c.84248C>T (p.Pro28083Leu)
c.65333C>T (p.Pro21778Leu)
c.65132C>T (p.Pro21711Leu)
c.64757C>T (p.Pro21586Leu)
c.91952C>T (p.Pro30651Leu)
c.87029C>T (p.Pro29010Leu)
n.447-21530G>A
n.2043+7409G>A
c.91049C>T (p.Pro30350Leu)
c.64943C>T (p.Pro21648Leu)
c.64802C>T (p.Pro21601Leu)
c.90845C>T (p.Pro30282Leu)
c.86243C>T (p.Pro28748Leu)
c.86240C>T (p.Pro28747Leu)
c.83282C>T (p.Pro27761Leu)
c.64898C>T (p.Pro21633Leu)
c.86393C>T (p.Pro28798Leu)
c.86390C>T (p.Pro28797Leu)
c.85823C>T (p.Pro28608Leu)
c.83165C>T (p.Pro27722Leu)
c.83084C>T (p.Pro27695Leu)
c.64847C>T (p.Pro21616Leu)
c.54701C>T (p.Pro18234Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549770G>CCA349495541TTN,TTN-AS1c.84248C>G (p.Pro28083Arg)
c.65333C>G (p.Pro21778Arg)
c.65132C>G (p.Pro21711Arg)
c.64757C>G (p.Pro21586Arg)
c.91952C>G (p.Pro30651Arg)
c.87029C>G (p.Pro29010Arg)
n.447-21530G>C
n.2043+7409G>C
c.91049C>G (p.Pro30350Arg)
c.64943C>G (p.Pro21648Arg)
c.64802C>G (p.Pro21601Arg)
c.90845C>G (p.Pro30282Arg)
c.86243C>G (p.Pro28748Arg)
c.86240C>G (p.Pro28747Arg)
c.83282C>G (p.Pro27761Arg)
c.64898C>G (p.Pro21633Arg)
c.86393C>G (p.Pro28798Arg)
c.86390C>G (p.Pro28797Arg)
c.85823C>G (p.Pro28608Arg)
c.83165C>G (p.Pro27722Arg)
c.83084C>G (p.Pro27695Arg)
c.64847C>G (p.Pro21616Arg)
c.54701C>G (p.Pro18234Arg)
2g.178549770G>TCA349495545TTN,TTN-AS1c.84248C>A (p.Pro28083His)
c.65333C>A (p.Pro21778His)
c.65132C>A (p.Pro21711His)
c.64757C>A (p.Pro21586His)
c.91952C>A (p.Pro30651His)
c.87029C>A (p.Pro29010His)
n.447-21530G>T
n.2043+7409G>T
c.91049C>A (p.Pro30350His)
c.64943C>A (p.Pro21648His)
c.64802C>A (p.Pro21601His)
c.90845C>A (p.Pro30282His)
c.86243C>A (p.Pro28748His)
c.86240C>A (p.Pro28747His)
c.83282C>A (p.Pro27761His)
c.64898C>A (p.Pro21633His)
c.86393C>A (p.Pro28798His)
c.86390C>A (p.Pro28797His)
c.85823C>A (p.Pro28608His)
c.83165C>A (p.Pro27722His)
c.83084C>A (p.Pro27695His)
c.64847C>A (p.Pro21616His)
c.54701C>A (p.Pro18234His)
2g.178549771G>ACA60974903TTN,TTN-AS1c.84247C>T (p.Pro28083Ser)
c.65332C>T (p.Pro21778Ser)
c.65131C>T (p.Pro21711Ser)
c.64756C>T (p.Pro21586Ser)
c.91951C>T (p.Pro30651Ser)
c.87028C>T (p.Pro29010Ser)
n.447-21529G>A
n.2043+7410G>A
c.91048C>T (p.Pro30350Ser)
c.64942C>T (p.Pro21648Ser)
c.64801C>T (p.Pro21601Ser)
c.90844C>T (p.Pro30282Ser)
c.86242C>T (p.Pro28748Ser)
c.86239C>T (p.Pro28747Ser)
c.83281C>T (p.Pro27761Ser)
c.64897C>T (p.Pro21633Ser)
c.86392C>T (p.Pro28798Ser)
c.86389C>T (p.Pro28797Ser)
c.85822C>T (p.Pro28608Ser)
c.83164C>T (p.Pro27722Ser)
c.83083C>T (p.Pro27695Ser)
c.64846C>T (p.Pro21616Ser)
c.54700C>T (p.Pro18234Ser)
 dbSNP gnomAD v4
2g.178549771G>CCA349495558TTN,TTN-AS1c.84247C>G (p.Pro28083Ala)
c.65332C>G (p.Pro21778Ala)
c.65131C>G (p.Pro21711Ala)
c.64756C>G (p.Pro21586Ala)
c.91951C>G (p.Pro30651Ala)
c.87028C>G (p.Pro29010Ala)
n.447-21529G>C
n.2043+7410G>C
c.91048C>G (p.Pro30350Ala)
c.64942C>G (p.Pro21648Ala)
c.64801C>G (p.Pro21601Ala)
c.90844C>G (p.Pro30282Ala)
c.86242C>G (p.Pro28748Ala)
c.86239C>G (p.Pro28747Ala)
c.83281C>G (p.Pro27761Ala)
c.64897C>G (p.Pro21633Ala)
c.86392C>G (p.Pro28798Ala)
c.86389C>G (p.Pro28797Ala)
c.85822C>G (p.Pro28608Ala)
c.83164C>G (p.Pro27722Ala)
c.83083C>G (p.Pro27695Ala)
c.64846C>G (p.Pro21616Ala)
c.54700C>G (p.Pro18234Ala)
2g.178549771G=CA1310520097TTN,TTN-AS1c.84247C= (p.Pro28083=)
c.65332C= (p.Pro21778=)
c.65131C= (p.Pro21711=)
c.64756C= (p.Pro21586=)
c.91951C= (p.Pro30651=)
c.87028C= (p.Pro29010=)
n.447-21529G=
n.2043+7410G=
c.91048C= (p.Pro30350=)
c.64942C= (p.Pro21648=)
c.64801C= (p.Pro21601=)
c.90844C= (p.Pro30282=)
c.86242C= (p.Pro28748=)
c.86239C= (p.Pro28747=)
c.83281C= (p.Pro27761=)
c.64897C= (p.Pro21633=)
c.86392C= (p.Pro28798=)
c.86389C= (p.Pro28797=)
c.85822C= (p.Pro28608=)
c.83164C= (p.Pro27722=)
c.83083C= (p.Pro27695=)
c.64846C= (p.Pro21616=)
c.54700C= (p.Pro18234=)
2g.178549771G>TCA349495552TTN,TTN-AS1c.84247C>A (p.Pro28083Thr)
c.65332C>A (p.Pro21778Thr)
c.65131C>A (p.Pro21711Thr)
c.64756C>A (p.Pro21586Thr)
c.91951C>A (p.Pro30651Thr)
c.87028C>A (p.Pro29010Thr)
n.447-21529G>T
n.2043+7410G>T
c.91048C>A (p.Pro30350Thr)
c.64942C>A (p.Pro21648Thr)
c.64801C>A (p.Pro21601Thr)
c.90844C>A (p.Pro30282Thr)
c.86242C>A (p.Pro28748Thr)
c.86239C>A (p.Pro28747Thr)
c.83281C>A (p.Pro27761Thr)
c.64897C>A (p.Pro21633Thr)
c.86392C>A (p.Pro28798Thr)
c.86389C>A (p.Pro28797Thr)
c.85822C>A (p.Pro28608Thr)
c.83164C>A (p.Pro27722Thr)
c.83083C>A (p.Pro27695Thr)
c.64846C>A (p.Pro21616Thr)
c.54700C>A (p.Pro18234Thr)

Number of alleles fetched