Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178553636A>CCA349519006TTN,TTN-AS1c.81665T>G (p.Val27222Gly)
c.62750T>G (p.Val20917Gly)
c.62549T>G (p.Val20850Gly)
c.62174T>G (p.Val20725Gly)
c.89369T>G (p.Val29790Gly)
c.84446T>G (p.Val28149Gly)
n.447-17664A>C
n.2043+11275A>C
c.88466T>G (p.Val29489Gly)
c.62360T>G (p.Val20787Gly)
c.62219T>G (p.Val20740Gly)
c.88262T>G (p.Val29421Gly)
c.83660T>G (p.Val27887Gly)
c.83657T>G (p.Val27886Gly)
c.80699T>G (p.Val26900Gly)
c.62315T>G (p.Val20772Gly)
c.83810T>G (p.Val27937Gly)
c.83807T>G (p.Val27936Gly)
c.83240T>G (p.Val27747Gly)
c.80582T>G (p.Val26861Gly)
c.80501T>G (p.Val26834Gly)
c.62264T>G (p.Val20755Gly)
c.52118T>G (p.Val17373Gly)
2g.178553636A>GCA349519008TTN,TTN-AS1c.81665T>C (p.Val27222Ala)
c.62750T>C (p.Val20917Ala)
c.62549T>C (p.Val20850Ala)
c.62174T>C (p.Val20725Ala)
c.89369T>C (p.Val29790Ala)
c.84446T>C (p.Val28149Ala)
n.447-17664A>G
n.2043+11275A>G
c.88466T>C (p.Val29489Ala)
c.62360T>C (p.Val20787Ala)
c.62219T>C (p.Val20740Ala)
c.88262T>C (p.Val29421Ala)
c.83660T>C (p.Val27887Ala)
c.83657T>C (p.Val27886Ala)
c.80699T>C (p.Val26900Ala)
c.62315T>C (p.Val20772Ala)
c.83810T>C (p.Val27937Ala)
c.83807T>C (p.Val27936Ala)
c.83240T>C (p.Val27747Ala)
c.80582T>C (p.Val26861Ala)
c.80501T>C (p.Val26834Ala)
c.62264T>C (p.Val20755Ala)
c.52118T>C (p.Val17373Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178553636A>TCA349519010TTN,TTN-AS1c.81665T>A (p.Val27222Asp)
c.62750T>A (p.Val20917Asp)
c.62549T>A (p.Val20850Asp)
c.62174T>A (p.Val20725Asp)
c.89369T>A (p.Val29790Asp)
c.84446T>A (p.Val28149Asp)
n.447-17664A>T
n.2043+11275A>T
c.88466T>A (p.Val29489Asp)
c.62360T>A (p.Val20787Asp)
c.62219T>A (p.Val20740Asp)
c.88262T>A (p.Val29421Asp)
c.83660T>A (p.Val27887Asp)
c.83657T>A (p.Val27886Asp)
c.80699T>A (p.Val26900Asp)
c.62315T>A (p.Val20772Asp)
c.83810T>A (p.Val27937Asp)
c.83807T>A (p.Val27936Asp)
c.83240T>A (p.Val27747Asp)
c.80582T>A (p.Val26861Asp)
c.80501T>A (p.Val26834Asp)
c.62264T>A (p.Val20755Asp)
c.52118T>A (p.Val17373Asp)
2g.178553637C>ACA349519011TTN,TTN-AS1c.81664G>T (p.Val27222Phe)
c.62749G>T (p.Val20917Phe)
c.62548G>T (p.Val20850Phe)
c.62173G>T (p.Val20725Phe)
c.89368G>T (p.Val29790Phe)
c.84445G>T (p.Val28149Phe)
n.447-17663C>A
n.2043+11276C>A
c.88465G>T (p.Val29489Phe)
c.62359G>T (p.Val20787Phe)
c.62218G>T (p.Val20740Phe)
c.88261G>T (p.Val29421Phe)
c.83659G>T (p.Val27887Phe)
c.83656G>T (p.Val27886Phe)
c.80698G>T (p.Val26900Phe)
c.62314G>T (p.Val20772Phe)
c.83809G>T (p.Val27937Phe)
c.83806G>T (p.Val27936Phe)
c.83239G>T (p.Val27747Phe)
c.80581G>T (p.Val26861Phe)
c.80500G>T (p.Val26834Phe)
c.62263G>T (p.Val20755Phe)
c.52117G>T (p.Val17373Phe)
2g.178553637C=CA1310523001TTN,TTN-AS1c.81664G= (p.Val27222=)
c.62749G= (p.Val20917=)
c.62548G= (p.Val20850=)
c.62173G= (p.Val20725=)
c.89368G= (p.Val29790=)
c.84445G= (p.Val28149=)
n.447-17663C=
n.2043+11276C=
c.88465G= (p.Val29489=)
c.62359G= (p.Val20787=)
c.62218G= (p.Val20740=)
c.88261G= (p.Val29421=)
c.83659G= (p.Val27887=)
c.83656G= (p.Val27886=)
c.80698G= (p.Val26900=)
c.62314G= (p.Val20772=)
c.83809G= (p.Val27937=)
c.83806G= (p.Val27936=)
c.83239G= (p.Val27747=)
c.80581G= (p.Val26861=)
c.80500G= (p.Val26834=)
c.62263G= (p.Val20755=)
c.52117G= (p.Val17373=)
2g.178553637C>GCA349519013TTN,TTN-AS1c.81664G>C (p.Val27222Leu)
c.62749G>C (p.Val20917Leu)
c.62548G>C (p.Val20850Leu)
c.62173G>C (p.Val20725Leu)
c.89368G>C (p.Val29790Leu)
c.84445G>C (p.Val28149Leu)
n.447-17663C>G
n.2043+11276C>G
c.88465G>C (p.Val29489Leu)
c.62359G>C (p.Val20787Leu)
c.62218G>C (p.Val20740Leu)
c.88261G>C (p.Val29421Leu)
c.83659G>C (p.Val27887Leu)
c.83656G>C (p.Val27886Leu)
c.80698G>C (p.Val26900Leu)
c.62314G>C (p.Val20772Leu)
c.83809G>C (p.Val27937Leu)
c.83806G>C (p.Val27936Leu)
c.83239G>C (p.Val27747Leu)
c.80581G>C (p.Val26861Leu)
c.80500G>C (p.Val26834Leu)
c.62263G>C (p.Val20755Leu)
c.52117G>C (p.Val17373Leu)
2g.178553637C>TCA1987937TTN,TTN-AS1c.81664G>A (p.Val27222Ile)
c.62749G>A (p.Val20917Ile)
c.62548G>A (p.Val20850Ile)
c.62173G>A (p.Val20725Ile)
c.89368G>A (p.Val29790Ile)
c.84445G>A (p.Val28149Ile)
n.447-17663C>T
n.2043+11276C>T
c.88465G>A (p.Val29489Ile)
c.62359G>A (p.Val20787Ile)
c.62218G>A (p.Val20740Ile)
c.88261G>A (p.Val29421Ile)
c.83659G>A (p.Val27887Ile)
c.83656G>A (p.Val27886Ile)
c.80698G>A (p.Val26900Ile)
c.62314G>A (p.Val20772Ile)
c.83809G>A (p.Val27937Ile)
c.83806G>A (p.Val27936Ile)
c.83239G>A (p.Val27747Ile)
c.80581G>A (p.Val26861Ile)
c.80500G>A (p.Val26834Ile)
c.62263G>A (p.Val20755Ile)
c.52117G>A (p.Val17373Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178553638C>ACA349519016TTN,TTN-AS1c.81663G>T (p.Glu27221Asp)
c.62748G>T (p.Glu20916Asp)
c.62547G>T (p.Glu20849Asp)
c.62172G>T (p.Glu20724Asp)
c.89367G>T (p.Glu29789Asp)
c.84444G>T (p.Glu28148Asp)
n.447-17662C>A
n.2043+11277C>A
c.88464G>T (p.Glu29488Asp)
c.62358G>T (p.Glu20786Asp)
c.62217G>T (p.Glu20739Asp)
c.88260G>T (p.Glu29420Asp)
c.83658G>T (p.Glu27886Asp)
c.83655G>T (p.Glu27885Asp)
c.80697G>T (p.Glu26899Asp)
c.62313G>T (p.Glu20771Asp)
c.83808G>T (p.Glu27936Asp)
c.83805G>T (p.Glu27935Asp)
c.83238G>T (p.Glu27746Asp)
c.80580G>T (p.Glu26860Asp)
c.80499G>T (p.Glu26833Asp)
c.62262G>T (p.Glu20754Asp)
c.52116G>T (p.Glu17372Asp)
 gnomAD v4
2g.178553638C>GCA349519018TTN,TTN-AS1c.81663G>C (p.Glu27221Asp)
c.62748G>C (p.Glu20916Asp)
c.62547G>C (p.Glu20849Asp)
c.62172G>C (p.Glu20724Asp)
c.89367G>C (p.Glu29789Asp)
c.84444G>C (p.Glu28148Asp)
n.447-17662C>G
n.2043+11277C>G
c.88464G>C (p.Glu29488Asp)
c.62358G>C (p.Glu20786Asp)
c.62217G>C (p.Glu20739Asp)
c.88260G>C (p.Glu29420Asp)
c.83658G>C (p.Glu27886Asp)
c.83655G>C (p.Glu27885Asp)
c.80697G>C (p.Glu26899Asp)
c.62313G>C (p.Glu20771Asp)
c.83808G>C (p.Glu27936Asp)
c.83805G>C (p.Glu27935Asp)
c.83238G>C (p.Glu27746Asp)
c.80580G>C (p.Glu26860Asp)
c.80499G>C (p.Glu26833Asp)
c.62262G>C (p.Glu20754Asp)
c.52116G>C (p.Glu17372Asp)
 gnomAD v4
2g.178553638C>TCA430246299TTN,TTN-AS1c.81663G>A (p.Glu27221=)
c.62748G>A (p.Glu20916=)
c.62547G>A (p.Glu20849=)
c.62172G>A (p.Glu20724=)
c.89367G>A (p.Glu29789=)
c.84444G>A (p.Glu28148=)
n.447-17662C>T
n.2043+11277C>T
c.88464G>A (p.Glu29488=)
c.62358G>A (p.Glu20786=)
c.62217G>A (p.Glu20739=)
c.88260G>A (p.Glu29420=)
c.83658G>A (p.Glu27886=)
c.83655G>A (p.Glu27885=)
c.80697G>A (p.Glu26899=)
c.62313G>A (p.Glu20771=)
c.83808G>A (p.Glu27936=)
c.83805G>A (p.Glu27935=)
c.83238G>A (p.Glu27746=)
c.80580G>A (p.Glu26860=)
c.80499G>A (p.Glu26833=)
c.62262G>A (p.Glu20754=)
c.52116G>A (p.Glu17372=)
2g.178553639T>ACA349519026TTN,TTN-AS1c.81662A>T (p.Glu27221Val)
c.62747A>T (p.Glu20916Val)
c.62546A>T (p.Glu20849Val)
c.62171A>T (p.Glu20724Val)
c.89366A>T (p.Glu29789Val)
c.84443A>T (p.Glu28148Val)
n.447-17661T>A
n.2043+11278T>A
c.88463A>T (p.Glu29488Val)
c.62357A>T (p.Glu20786Val)
c.62216A>T (p.Glu20739Val)
c.88259A>T (p.Glu29420Val)
c.83657A>T (p.Glu27886Val)
c.83654A>T (p.Glu27885Val)
c.80696A>T (p.Glu26899Val)
c.62312A>T (p.Glu20771Val)
c.83807A>T (p.Glu27936Val)
c.83804A>T (p.Glu27935Val)
c.83237A>T (p.Glu27746Val)
c.80579A>T (p.Glu26860Val)
c.80498A>T (p.Glu26833Val)
c.62261A>T (p.Glu20754Val)
c.52115A>T (p.Glu17372Val)
2g.178553639T>CCA349519021TTN,TTN-AS1c.81662A>G (p.Glu27221Gly)
c.62747A>G (p.Glu20916Gly)
c.62546A>G (p.Glu20849Gly)
c.62171A>G (p.Glu20724Gly)
c.89366A>G (p.Glu29789Gly)
c.84443A>G (p.Glu28148Gly)
n.447-17661T>C
n.2043+11278T>C
c.88463A>G (p.Glu29488Gly)
c.62357A>G (p.Glu20786Gly)
c.62216A>G (p.Glu20739Gly)
c.88259A>G (p.Glu29420Gly)
c.83657A>G (p.Glu27886Gly)
c.83654A>G (p.Glu27885Gly)
c.80696A>G (p.Glu26899Gly)
c.62312A>G (p.Glu20771Gly)
c.83807A>G (p.Glu27936Gly)
c.83804A>G (p.Glu27935Gly)
c.83237A>G (p.Glu27746Gly)
c.80579A>G (p.Glu26860Gly)
c.80498A>G (p.Glu26833Gly)
c.62261A>G (p.Glu20754Gly)
c.52115A>G (p.Glu17372Gly)
2g.178553639T>GCA349519024TTN,TTN-AS1c.81662A>C (p.Glu27221Ala)
c.62747A>C (p.Glu20916Ala)
c.62546A>C (p.Glu20849Ala)
c.62171A>C (p.Glu20724Ala)
c.89366A>C (p.Glu29789Ala)
c.84443A>C (p.Glu28148Ala)
n.447-17661T>G
n.2043+11278T>G
c.88463A>C (p.Glu29488Ala)
c.62357A>C (p.Glu20786Ala)
c.62216A>C (p.Glu20739Ala)
c.88259A>C (p.Glu29420Ala)
c.83657A>C (p.Glu27886Ala)
c.83654A>C (p.Glu27885Ala)
c.80696A>C (p.Glu26899Ala)
c.62312A>C (p.Glu20771Ala)
c.83807A>C (p.Glu27936Ala)
c.83804A>C (p.Glu27935Ala)
c.83237A>C (p.Glu27746Ala)
c.80579A>C (p.Glu26860Ala)
c.80498A>C (p.Glu26833Ala)
c.62261A>C (p.Glu20754Ala)
c.52115A>C (p.Glu17372Ala)
2g.178553640C>ACA349519027TTN,TTN-AS1c.81661G>T (p.Glu27221Ter)
c.62746G>T (p.Glu20916Ter)
c.62545G>T (p.Glu20849Ter)
c.62170G>T (p.Glu20724Ter)
c.89365G>T (p.Glu29789Ter)
c.84442G>T (p.Glu28148Ter)
n.447-17660C>A
n.2043+11279C>A
c.88462G>T (p.Glu29488Ter)
c.62356G>T (p.Glu20786Ter)
c.62215G>T (p.Glu20739Ter)
c.88258G>T (p.Glu29420Ter)
c.83656G>T (p.Glu27886Ter)
c.83653G>T (p.Glu27885Ter)
c.80695G>T (p.Glu26899Ter)
c.62311G>T (p.Glu20771Ter)
c.83806G>T (p.Glu27936Ter)
c.83803G>T (p.Glu27935Ter)
c.83236G>T (p.Glu27746Ter)
c.80578G>T (p.Glu26860Ter)
c.80497G>T (p.Glu26833Ter)
c.62260G>T (p.Glu20754Ter)
c.52114G>T (p.Glu17372Ter)
2g.178553640C>GCA349519029TTN,TTN-AS1c.81661G>C (p.Glu27221Gln)
c.62746G>C (p.Glu20916Gln)
c.62545G>C (p.Glu20849Gln)
c.62170G>C (p.Glu20724Gln)
c.89365G>C (p.Glu29789Gln)
c.84442G>C (p.Glu28148Gln)
n.447-17660C>G
n.2043+11279C>G
c.88462G>C (p.Glu29488Gln)
c.62356G>C (p.Glu20786Gln)
c.62215G>C (p.Glu20739Gln)
c.88258G>C (p.Glu29420Gln)
c.83656G>C (p.Glu27886Gln)
c.83653G>C (p.Glu27885Gln)
c.80695G>C (p.Glu26899Gln)
c.62311G>C (p.Glu20771Gln)
c.83806G>C (p.Glu27936Gln)
c.83803G>C (p.Glu27935Gln)
c.83236G>C (p.Glu27746Gln)
c.80578G>C (p.Glu26860Gln)
c.80497G>C (p.Glu26833Gln)
c.62260G>C (p.Glu20754Gln)
c.52114G>C (p.Glu17372Gln)
2g.178553640C>TCA349519028TTN,TTN-AS1c.81661G>A (p.Glu27221Lys)
c.62746G>A (p.Glu20916Lys)
c.62545G>A (p.Glu20849Lys)
c.62170G>A (p.Glu20724Lys)
c.89365G>A (p.Glu29789Lys)
c.84442G>A (p.Glu28148Lys)
n.447-17660C>T
n.2043+11279C>T
c.88462G>A (p.Glu29488Lys)
c.62356G>A (p.Glu20786Lys)
c.62215G>A (p.Glu20739Lys)
c.88258G>A (p.Glu29420Lys)
c.83656G>A (p.Glu27886Lys)
c.83653G>A (p.Glu27885Lys)
c.80695G>A (p.Glu26899Lys)
c.62311G>A (p.Glu20771Lys)
c.83806G>A (p.Glu27936Lys)
c.83803G>A (p.Glu27935Lys)
c.83236G>A (p.Glu27746Lys)
c.80578G>A (p.Glu26860Lys)
c.80497G>A (p.Glu26833Lys)
c.62260G>A (p.Glu20754Lys)
c.52114G>A (p.Glu17372Lys)
2g.178553641T>ACA430246302TTN,TTN-AS1c.81660A>T (p.Gly27220=)
c.62745A>T (p.Gly20915=)
c.62544A>T (p.Gly20848=)
c.62169A>T (p.Gly20723=)
c.89364A>T (p.Gly29788=)
c.84441A>T (p.Gly28147=)
n.447-17659T>A
n.2043+11280T>A
c.88461A>T (p.Gly29487=)
c.62355A>T (p.Gly20785=)
c.62214A>T (p.Gly20738=)
c.88257A>T (p.Gly29419=)
c.83655A>T (p.Gly27885=)
c.83652A>T (p.Gly27884=)
c.80694A>T (p.Gly26898=)
c.62310A>T (p.Gly20770=)
c.83805A>T (p.Gly27935=)
c.83802A>T (p.Gly27934=)
c.83235A>T (p.Gly27745=)
c.80577A>T (p.Gly26859=)
c.80496A>T (p.Gly26832=)
c.62259A>T (p.Gly20753=)
c.52113A>T (p.Gly17371=)
2g.178553641T>CCA430246306TTN,TTN-AS1c.81660A>G (p.Gly27220=)
c.62745A>G (p.Gly20915=)
c.62544A>G (p.Gly20848=)
c.62169A>G (p.Gly20723=)
c.89364A>G (p.Gly29788=)
c.84441A>G (p.Gly28147=)
n.447-17659T>C
n.2043+11280T>C
c.88461A>G (p.Gly29487=)
c.62355A>G (p.Gly20785=)
c.62214A>G (p.Gly20738=)
c.88257A>G (p.Gly29419=)
c.83655A>G (p.Gly27885=)
c.83652A>G (p.Gly27884=)
c.80694A>G (p.Gly26898=)
c.62310A>G (p.Gly20770=)
c.83805A>G (p.Gly27935=)
c.83802A>G (p.Gly27934=)
c.83235A>G (p.Gly27745=)
c.80577A>G (p.Gly26859=)
c.80496A>G (p.Gly26832=)
c.62259A>G (p.Gly20753=)
c.52113A>G (p.Gly17371=)
 ClinVar dbSNP
2g.178553641T>GCA430246304TTN,TTN-AS1c.81660A>C (p.Gly27220=)
c.62745A>C (p.Gly20915=)
c.62544A>C (p.Gly20848=)
c.62169A>C (p.Gly20723=)
c.89364A>C (p.Gly29788=)
c.84441A>C (p.Gly28147=)
n.447-17659T>G
n.2043+11280T>G
c.88461A>C (p.Gly29487=)
c.62355A>C (p.Gly20785=)
c.62214A>C (p.Gly20738=)
c.88257A>C (p.Gly29419=)
c.83655A>C (p.Gly27885=)
c.83652A>C (p.Gly27884=)
c.80694A>C (p.Gly26898=)
c.62310A>C (p.Gly20770=)
c.83805A>C (p.Gly27935=)
c.83802A>C (p.Gly27934=)
c.83235A>C (p.Gly27745=)
c.80577A>C (p.Gly26859=)
c.80496A>C (p.Gly26832=)
c.62259A>C (p.Gly20753=)
c.52113A>C (p.Gly17371=)
 gnomAD v4
2g.178553642C>ACA349519032TTN,TTN-AS1c.81659G>T (p.Gly27220Val)
c.62744G>T (p.Gly20915Val)
c.62543G>T (p.Gly20848Val)
c.62168G>T (p.Gly20723Val)
c.89363G>T (p.Gly29788Val)
c.84440G>T (p.Gly28147Val)
n.447-17658C>A
n.2043+11281C>A
c.88460G>T (p.Gly29487Val)
c.62354G>T (p.Gly20785Val)
c.62213G>T (p.Gly20738Val)
c.88256G>T (p.Gly29419Val)
c.83654G>T (p.Gly27885Val)
c.83651G>T (p.Gly27884Val)
c.80693G>T (p.Gly26898Val)
c.62309G>T (p.Gly20770Val)
c.83804G>T (p.Gly27935Val)
c.83801G>T (p.Gly27934Val)
c.83234G>T (p.Gly27745Val)
c.80576G>T (p.Gly26859Val)
c.80495G>T (p.Gly26832Val)
c.62258G>T (p.Gly20753Val)
c.52112G>T (p.Gly17371Val)
2g.178553642C=CA1310523004TTN,TTN-AS1c.81659G= (p.Gly27220=)
c.62744G= (p.Gly20915=)
c.62543G= (p.Gly20848=)
c.62168G= (p.Gly20723=)
c.89363G= (p.Gly29788=)
c.84440G= (p.Gly28147=)
n.447-17658C=
n.2043+11281C=
c.88460G= (p.Gly29487=)
c.62354G= (p.Gly20785=)
c.62213G= (p.Gly20738=)
c.88256G= (p.Gly29419=)
c.83654G= (p.Gly27885=)
c.83651G= (p.Gly27884=)
c.80693G= (p.Gly26898=)
c.62309G= (p.Gly20770=)
c.83804G= (p.Gly27935=)
c.83801G= (p.Gly27934=)
c.83234G= (p.Gly27745=)
c.80576G= (p.Gly26859=)
c.80495G= (p.Gly26832=)
c.62258G= (p.Gly20753=)
c.52112G= (p.Gly17371=)
2g.178553642C>GCA349519036TTN,TTN-AS1c.81659G>C (p.Gly27220Ala)
c.62744G>C (p.Gly20915Ala)
c.62543G>C (p.Gly20848Ala)
c.62168G>C (p.Gly20723Ala)
c.89363G>C (p.Gly29788Ala)
c.84440G>C (p.Gly28147Ala)
n.447-17658C>G
n.2043+11281C>G
c.88460G>C (p.Gly29487Ala)
c.62354G>C (p.Gly20785Ala)
c.62213G>C (p.Gly20738Ala)
c.88256G>C (p.Gly29419Ala)
c.83654G>C (p.Gly27885Ala)
c.83651G>C (p.Gly27884Ala)
c.80693G>C (p.Gly26898Ala)
c.62309G>C (p.Gly20770Ala)
c.83804G>C (p.Gly27935Ala)
c.83801G>C (p.Gly27934Ala)
c.83234G>C (p.Gly27745Ala)
c.80576G>C (p.Gly26859Ala)
c.80495G>C (p.Gly26832Ala)
c.62258G>C (p.Gly20753Ala)
c.52112G>C (p.Gly17371Ala)
2g.178553642C>TCA349519034TTN,TTN-AS1c.81659G>A (p.Gly27220Glu)
c.62744G>A (p.Gly20915Glu)
c.62543G>A (p.Gly20848Glu)
c.62168G>A (p.Gly20723Glu)
c.89363G>A (p.Gly29788Glu)
c.84440G>A (p.Gly28147Glu)
n.447-17658C>T
n.2043+11281C>T
c.88460G>A (p.Gly29487Glu)
c.62354G>A (p.Gly20785Glu)
c.62213G>A (p.Gly20738Glu)
c.88256G>A (p.Gly29419Glu)
c.83654G>A (p.Gly27885Glu)
c.83651G>A (p.Gly27884Glu)
c.80693G>A (p.Gly26898Glu)
c.62309G>A (p.Gly20770Glu)
c.83804G>A (p.Gly27935Glu)
c.83801G>A (p.Gly27934Glu)
c.83234G>A (p.Gly27745Glu)
c.80576G>A (p.Gly26859Glu)
c.80495G>A (p.Gly26832Glu)
c.62258G>A (p.Gly20753Glu)
c.52112G>A (p.Gly17371Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.178553643C>ACA349519038TTN,TTN-AS1c.81658G>T (p.Gly27220Ter)
c.62743G>T (p.Gly20915Ter)
c.62542G>T (p.Gly20848Ter)
c.62167G>T (p.Gly20723Ter)
c.89362G>T (p.Gly29788Ter)
c.84439G>T (p.Gly28147Ter)
n.447-17657C>A
n.2043+11282C>A
c.88459G>T (p.Gly29487Ter)
c.62353G>T (p.Gly20785Ter)
c.62212G>T (p.Gly20738Ter)
c.88255G>T (p.Gly29419Ter)
c.83653G>T (p.Gly27885Ter)
c.83650G>T (p.Gly27884Ter)
c.80692G>T (p.Gly26898Ter)
c.62308G>T (p.Gly20770Ter)
c.83803G>T (p.Gly27935Ter)
c.83800G>T (p.Gly27934Ter)
c.83233G>T (p.Gly27745Ter)
c.80575G>T (p.Gly26859Ter)
c.80494G>T (p.Gly26832Ter)
c.62257G>T (p.Gly20753Ter)
c.52111G>T (p.Gly17371Ter)
2g.178553643C=CA1310523006TTN,TTN-AS1c.81658G= (p.Gly27220=)
c.62743G= (p.Gly20915=)
c.62542G= (p.Gly20848=)
c.62167G= (p.Gly20723=)
c.89362G= (p.Gly29788=)
c.84439G= (p.Gly28147=)
n.447-17657C=
n.2043+11282C=
c.88459G= (p.Gly29487=)
c.62353G= (p.Gly20785=)
c.62212G= (p.Gly20738=)
c.88255G= (p.Gly29419=)
c.83653G= (p.Gly27885=)
c.83650G= (p.Gly27884=)
c.80692G= (p.Gly26898=)
c.62308G= (p.Gly20770=)
c.83803G= (p.Gly27935=)
c.83800G= (p.Gly27934=)
c.83233G= (p.Gly27745=)
c.80575G= (p.Gly26859=)
c.80494G= (p.Gly26832=)
c.62257G= (p.Gly20753=)
c.52111G= (p.Gly17371=)
2g.178553643C>GCA349519041TTN,TTN-AS1c.81658G>C (p.Gly27220Arg)
c.62743G>C (p.Gly20915Arg)
c.62542G>C (p.Gly20848Arg)
c.62167G>C (p.Gly20723Arg)
c.89362G>C (p.Gly29788Arg)
c.84439G>C (p.Gly28147Arg)
n.447-17657C>G
n.2043+11282C>G
c.88459G>C (p.Gly29487Arg)
c.62353G>C (p.Gly20785Arg)
c.62212G>C (p.Gly20738Arg)
c.88255G>C (p.Gly29419Arg)
c.83653G>C (p.Gly27885Arg)
c.83650G>C (p.Gly27884Arg)
c.80692G>C (p.Gly26898Arg)
c.62308G>C (p.Gly20770Arg)
c.83803G>C (p.Gly27935Arg)
c.83800G>C (p.Gly27934Arg)
c.83233G>C (p.Gly27745Arg)
c.80575G>C (p.Gly26859Arg)
c.80494G>C (p.Gly26832Arg)
c.62257G>C (p.Gly20753Arg)
c.52111G>C (p.Gly17371Arg)
2g.178553643C>TCA1987938TTN,TTN-AS1c.81658G>A (p.Gly27220Arg)
c.62743G>A (p.Gly20915Arg)
c.62542G>A (p.Gly20848Arg)
c.62167G>A (p.Gly20723Arg)
c.89362G>A (p.Gly29788Arg)
c.84439G>A (p.Gly28147Arg)
n.447-17657C>T
n.2043+11282C>T
c.88459G>A (p.Gly29487Arg)
c.62353G>A (p.Gly20785Arg)
c.62212G>A (p.Gly20738Arg)
c.88255G>A (p.Gly29419Arg)
c.83653G>A (p.Gly27885Arg)
c.83650G>A (p.Gly27884Arg)
c.80692G>A (p.Gly26898Arg)
c.62308G>A (p.Gly20770Arg)
c.83803G>A (p.Gly27935Arg)
c.83800G>A (p.Gly27934Arg)
c.83233G>A (p.Gly27745Arg)
c.80575G>A (p.Gly26859Arg)
c.80494G>A (p.Gly26832Arg)
c.62257G>A (p.Gly20753Arg)
c.52111G>A (p.Gly17371Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178553644T>ACA349519046TTN,TTN-AS1c.81657A>T (p.Lys27219Asn)
c.62742A>T (p.Lys20914Asn)
c.62541A>T (p.Lys20847Asn)
c.62166A>T (p.Lys20722Asn)
c.89361A>T (p.Lys29787Asn)
c.84438A>T (p.Lys28146Asn)
n.447-17656T>A
n.2043+11283T>A
c.88458A>T (p.Lys29486Asn)
c.62352A>T (p.Lys20784Asn)
c.62211A>T (p.Lys20737Asn)
c.88254A>T (p.Lys29418Asn)
c.83652A>T (p.Lys27884Asn)
c.83649A>T (p.Lys27883Asn)
c.80691A>T (p.Lys26897Asn)
c.62307A>T (p.Lys20769Asn)
c.83802A>T (p.Lys27934Asn)
c.83799A>T (p.Lys27933Asn)
c.83232A>T (p.Lys27744Asn)
c.80574A>T (p.Lys26858Asn)
c.80493A>T (p.Lys26831Asn)
c.62256A>T (p.Lys20752Asn)
c.52110A>T (p.Lys17370Asn)
2g.178553644T>CCA1987939TTN,TTN-AS1c.81657A>G (p.Lys27219=)
c.62742A>G (p.Lys20914=)
c.62541A>G (p.Lys20847=)
c.62166A>G (p.Lys20722=)
c.89361A>G (p.Lys29787=)
c.84438A>G (p.Lys28146=)
n.447-17656T>C
n.2043+11283T>C
c.88458A>G (p.Lys29486=)
c.62352A>G (p.Lys20784=)
c.62211A>G (p.Lys20737=)
c.88254A>G (p.Lys29418=)
c.83652A>G (p.Lys27884=)
c.83649A>G (p.Lys27883=)
c.80691A>G (p.Lys26897=)
c.62307A>G (p.Lys20769=)
c.83802A>G (p.Lys27934=)
c.83799A>G (p.Lys27933=)
c.83232A>G (p.Lys27744=)
c.80574A>G (p.Lys26858=)
c.80493A>G (p.Lys26831=)
c.62256A>G (p.Lys20752=)
c.52110A>G (p.Lys17370=)
 dbSNP ExAC gnomAD v2
2g.178553644T>GCA349519049TTN,TTN-AS1c.81657A>C (p.Lys27219Asn)
c.62742A>C (p.Lys20914Asn)
c.62541A>C (p.Lys20847Asn)
c.62166A>C (p.Lys20722Asn)
c.89361A>C (p.Lys29787Asn)
c.84438A>C (p.Lys28146Asn)
n.447-17656T>G
n.2043+11283T>G
c.88458A>C (p.Lys29486Asn)
c.62352A>C (p.Lys20784Asn)
c.62211A>C (p.Lys20737Asn)
c.88254A>C (p.Lys29418Asn)
c.83652A>C (p.Lys27884Asn)
c.83649A>C (p.Lys27883Asn)
c.80691A>C (p.Lys26897Asn)
c.62307A>C (p.Lys20769Asn)
c.83802A>C (p.Lys27934Asn)
c.83799A>C (p.Lys27933Asn)
c.83232A>C (p.Lys27744Asn)
c.80574A>C (p.Lys26858Asn)
c.80493A>C (p.Lys26831Asn)
c.62256A>C (p.Lys20752Asn)
c.52110A>C (p.Lys17370Asn)
 gnomAD v4
2g.178553644T=CA1310523008TTN,TTN-AS1c.81657A= (p.Lys27219=)
c.62742A= (p.Lys20914=)
c.62541A= (p.Lys20847=)
c.62166A= (p.Lys20722=)
c.89361A= (p.Lys29787=)
c.84438A= (p.Lys28146=)
n.447-17656T=
n.2043+11283T=
c.88458A= (p.Lys29486=)
c.62352A= (p.Lys20784=)
c.62211A= (p.Lys20737=)
c.88254A= (p.Lys29418=)
c.83652A= (p.Lys27884=)
c.83649A= (p.Lys27883=)
c.80691A= (p.Lys26897=)
c.62307A= (p.Lys20769=)
c.83802A= (p.Lys27934=)
c.83799A= (p.Lys27933=)
c.83232A= (p.Lys27744=)
c.80574A= (p.Lys26858=)
c.80493A= (p.Lys26831=)
c.62256A= (p.Lys20752=)
c.52110A= (p.Lys17370=)
2g.178553645T>ACA349519052TTN,TTN-AS1c.81656A>T (p.Lys27219Ile)
c.62741A>T (p.Lys20914Ile)
c.62540A>T (p.Lys20847Ile)
c.62165A>T (p.Lys20722Ile)
c.89360A>T (p.Lys29787Ile)
c.84437A>T (p.Lys28146Ile)
n.447-17655T>A
n.2043+11284T>A
c.88457A>T (p.Lys29486Ile)
c.62351A>T (p.Lys20784Ile)
c.62210A>T (p.Lys20737Ile)
c.88253A>T (p.Lys29418Ile)
c.83651A>T (p.Lys27884Ile)
c.83648A>T (p.Lys27883Ile)
c.80690A>T (p.Lys26897Ile)
c.62306A>T (p.Lys20769Ile)
c.83801A>T (p.Lys27934Ile)
c.83798A>T (p.Lys27933Ile)
c.83231A>T (p.Lys27744Ile)
c.80573A>T (p.Lys26858Ile)
c.80492A>T (p.Lys26831Ile)
c.62255A>T (p.Lys20752Ile)
c.52109A>T (p.Lys17370Ile)
2g.178553645T>CCA349519055TTN,TTN-AS1c.81656A>G (p.Lys27219Arg)
c.62741A>G (p.Lys20914Arg)
c.62540A>G (p.Lys20847Arg)
c.62165A>G (p.Lys20722Arg)
c.89360A>G (p.Lys29787Arg)
c.84437A>G (p.Lys28146Arg)
n.447-17655T>C
n.2043+11284T>C
c.88457A>G (p.Lys29486Arg)
c.62351A>G (p.Lys20784Arg)
c.62210A>G (p.Lys20737Arg)
c.88253A>G (p.Lys29418Arg)
c.83651A>G (p.Lys27884Arg)
c.83648A>G (p.Lys27883Arg)
c.80690A>G (p.Lys26897Arg)
c.62306A>G (p.Lys20769Arg)
c.83801A>G (p.Lys27934Arg)
c.83798A>G (p.Lys27933Arg)
c.83231A>G (p.Lys27744Arg)
c.80573A>G (p.Lys26858Arg)
c.80492A>G (p.Lys26831Arg)
c.62255A>G (p.Lys20752Arg)
c.52109A>G (p.Lys17370Arg)
2g.178553645T>GCA349519057TTN,TTN-AS1c.81656A>C (p.Lys27219Thr)
c.62741A>C (p.Lys20914Thr)
c.62540A>C (p.Lys20847Thr)
c.62165A>C (p.Lys20722Thr)
c.89360A>C (p.Lys29787Thr)
c.84437A>C (p.Lys28146Thr)
n.447-17655T>G
n.2043+11284T>G
c.88457A>C (p.Lys29486Thr)
c.62351A>C (p.Lys20784Thr)
c.62210A>C (p.Lys20737Thr)
c.88253A>C (p.Lys29418Thr)
c.83651A>C (p.Lys27884Thr)
c.83648A>C (p.Lys27883Thr)
c.80690A>C (p.Lys26897Thr)
c.62306A>C (p.Lys20769Thr)
c.83801A>C (p.Lys27934Thr)
c.83798A>C (p.Lys27933Thr)
c.83231A>C (p.Lys27744Thr)
c.80573A>C (p.Lys26858Thr)
c.80492A>C (p.Lys26831Thr)
c.62255A>C (p.Lys20752Thr)
c.52109A>C (p.Lys17370Thr)
2g.178553646T>ACA349519059TTN,TTN-AS1c.81655A>T (p.Lys27219Ter)
c.62740A>T (p.Lys20914Ter)
c.62539A>T (p.Lys20847Ter)
c.62164A>T (p.Lys20722Ter)
c.89359A>T (p.Lys29787Ter)
c.84436A>T (p.Lys28146Ter)
n.447-17654T>A
n.2043+11285T>A
c.88456A>T (p.Lys29486Ter)
c.62350A>T (p.Lys20784Ter)
c.62209A>T (p.Lys20737Ter)
c.88252A>T (p.Lys29418Ter)
c.83650A>T (p.Lys27884Ter)
c.83647A>T (p.Lys27883Ter)
c.80689A>T (p.Lys26897Ter)
c.62305A>T (p.Lys20769Ter)
c.83800A>T (p.Lys27934Ter)
c.83797A>T (p.Lys27933Ter)
c.83230A>T (p.Lys27744Ter)
c.80572A>T (p.Lys26858Ter)
c.80491A>T (p.Lys26831Ter)
c.62254A>T (p.Lys20752Ter)
c.52108A>T (p.Lys17370Ter)
2g.178553646T>CCA349519062TTN,TTN-AS1c.81655A>G (p.Lys27219Glu)
c.62740A>G (p.Lys20914Glu)
c.62539A>G (p.Lys20847Glu)
c.62164A>G (p.Lys20722Glu)
c.89359A>G (p.Lys29787Glu)
c.84436A>G (p.Lys28146Glu)
n.447-17654T>C
n.2043+11285T>C
c.88456A>G (p.Lys29486Glu)
c.62350A>G (p.Lys20784Glu)
c.62209A>G (p.Lys20737Glu)
c.88252A>G (p.Lys29418Glu)
c.83650A>G (p.Lys27884Glu)
c.83647A>G (p.Lys27883Glu)
c.80689A>G (p.Lys26897Glu)
c.62305A>G (p.Lys20769Glu)
c.83800A>G (p.Lys27934Glu)
c.83797A>G (p.Lys27933Glu)
c.83230A>G (p.Lys27744Glu)
c.80572A>G (p.Lys26858Glu)
c.80491A>G (p.Lys26831Glu)
c.62254A>G (p.Lys20752Glu)
c.52108A>G (p.Lys17370Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.178553646T>GCA349519063TTN,TTN-AS1c.81655A>C (p.Lys27219Gln)
c.62740A>C (p.Lys20914Gln)
c.62539A>C (p.Lys20847Gln)
c.62164A>C (p.Lys20722Gln)
c.89359A>C (p.Lys29787Gln)
c.84436A>C (p.Lys28146Gln)
n.447-17654T>G
n.2043+11285T>G
c.88456A>C (p.Lys29486Gln)
c.62350A>C (p.Lys20784Gln)
c.62209A>C (p.Lys20737Gln)
c.88252A>C (p.Lys29418Gln)
c.83650A>C (p.Lys27884Gln)
c.83647A>C (p.Lys27883Gln)
c.80689A>C (p.Lys26897Gln)
c.62305A>C (p.Lys20769Gln)
c.83800A>C (p.Lys27934Gln)
c.83797A>C (p.Lys27933Gln)
c.83230A>C (p.Lys27744Gln)
c.80572A>C (p.Lys26858Gln)
c.80491A>C (p.Lys26831Gln)
c.62254A>C (p.Lys20752Gln)
c.52108A>C (p.Lys17370Gln)
2g.178553646T=CA1310523010TTN,TTN-AS1c.81655A= (p.Lys27219=)
c.62740A= (p.Lys20914=)
c.62539A= (p.Lys20847=)
c.62164A= (p.Lys20722=)
c.89359A= (p.Lys29787=)
c.84436A= (p.Lys28146=)
n.447-17654T=
n.2043+11285T=
c.88456A= (p.Lys29486=)
c.62350A= (p.Lys20784=)
c.62209A= (p.Lys20737=)
c.88252A= (p.Lys29418=)
c.83650A= (p.Lys27884=)
c.83647A= (p.Lys27883=)
c.80689A= (p.Lys26897=)
c.62305A= (p.Lys20769=)
c.83800A= (p.Lys27934=)
c.83797A= (p.Lys27933=)
c.83230A= (p.Lys27744=)
c.80572A= (p.Lys26858=)
c.80491A= (p.Lys26831=)
c.62254A= (p.Lys20752=)
c.52108A= (p.Lys17370=)
2g.178553647G>ACA430246312TTN,TTN-AS1c.81654C>T (p.Thr27218=)
c.62739C>T (p.Thr20913=)
c.62538C>T (p.Thr20846=)
c.62163C>T (p.Thr20721=)
c.89358C>T (p.Thr29786=)
c.84435C>T (p.Thr28145=)
n.447-17653G>A
n.2043+11286G>A
c.88455C>T (p.Thr29485=)
c.62349C>T (p.Thr20783=)
c.62208C>T (p.Thr20736=)
c.88251C>T (p.Thr29417=)
c.83649C>T (p.Thr27883=)
c.83646C>T (p.Thr27882=)
c.80688C>T (p.Thr26896=)
c.62304C>T (p.Thr20768=)
c.83799C>T (p.Thr27933=)
c.83796C>T (p.Thr27932=)
c.83229C>T (p.Thr27743=)
c.80571C>T (p.Thr26857=)
c.80490C>T (p.Thr26830=)
c.62253C>T (p.Thr20751=)
c.52107C>T (p.Thr17369=)
 dbSNP
2g.178553647G>CCA430246315TTN,TTN-AS1c.81654C>G (p.Thr27218=)
c.62739C>G (p.Thr20913=)
c.62538C>G (p.Thr20846=)
c.62163C>G (p.Thr20721=)
c.89358C>G (p.Thr29786=)
c.84435C>G (p.Thr28145=)
n.447-17653G>C
n.2043+11286G>C
c.88455C>G (p.Thr29485=)
c.62349C>G (p.Thr20783=)
c.62208C>G (p.Thr20736=)
c.88251C>G (p.Thr29417=)
c.83649C>G (p.Thr27883=)
c.83646C>G (p.Thr27882=)
c.80688C>G (p.Thr26896=)
c.62304C>G (p.Thr20768=)
c.83799C>G (p.Thr27933=)
c.83796C>G (p.Thr27932=)
c.83229C>G (p.Thr27743=)
c.80571C>G (p.Thr26857=)
c.80490C>G (p.Thr26830=)
c.62253C>G (p.Thr20751=)
c.52107C>G (p.Thr17369=)
2g.178553647G=CA1310523011TTN,TTN-AS1c.81654C= (p.Thr27218=)
c.62739C= (p.Thr20913=)
c.62538C= (p.Thr20846=)
c.62163C= (p.Thr20721=)
c.89358C= (p.Thr29786=)
c.84435C= (p.Thr28145=)
n.447-17653G=
n.2043+11286G=
c.88455C= (p.Thr29485=)
c.62349C= (p.Thr20783=)
c.62208C= (p.Thr20736=)
c.88251C= (p.Thr29417=)
c.83649C= (p.Thr27883=)
c.83646C= (p.Thr27882=)
c.80688C= (p.Thr26896=)
c.62304C= (p.Thr20768=)
c.83799C= (p.Thr27933=)
c.83796C= (p.Thr27932=)
c.83229C= (p.Thr27743=)
c.80571C= (p.Thr26857=)
c.80490C= (p.Thr26830=)
c.62253C= (p.Thr20751=)
c.52107C= (p.Thr17369=)
2g.178553647G>TCA430246317TTN,TTN-AS1c.81654C>A (p.Thr27218=)
c.62739C>A (p.Thr20913=)
c.62538C>A (p.Thr20846=)
c.62163C>A (p.Thr20721=)
c.89358C>A (p.Thr29786=)
c.84435C>A (p.Thr28145=)
n.447-17653G>T
n.2043+11286G>T
c.88455C>A (p.Thr29485=)
c.62349C>A (p.Thr20783=)
c.62208C>A (p.Thr20736=)
c.88251C>A (p.Thr29417=)
c.83649C>A (p.Thr27883=)
c.83646C>A (p.Thr27882=)
c.80688C>A (p.Thr26896=)
c.62304C>A (p.Thr20768=)
c.83799C>A (p.Thr27933=)
c.83796C>A (p.Thr27932=)
c.83229C>A (p.Thr27743=)
c.80571C>A (p.Thr26857=)
c.80490C>A (p.Thr26830=)
c.62253C>A (p.Thr20751=)
c.52107C>A (p.Thr17369=)
2g.178553648G>ACA1987940TTN,TTN-AS1c.81653C>T (p.Thr27218Ile)
c.62738C>T (p.Thr20913Ile)
c.62537C>T (p.Thr20846Ile)
c.62162C>T (p.Thr20721Ile)
c.89357C>T (p.Thr29786Ile)
c.84434C>T (p.Thr28145Ile)
n.447-17652G>A
n.2043+11287G>A
c.88454C>T (p.Thr29485Ile)
c.62348C>T (p.Thr20783Ile)
c.62207C>T (p.Thr20736Ile)
c.88250C>T (p.Thr29417Ile)
c.83648C>T (p.Thr27883Ile)
c.83645C>T (p.Thr27882Ile)
c.80687C>T (p.Thr26896Ile)
c.62303C>T (p.Thr20768Ile)
c.83798C>T (p.Thr27933Ile)
c.83795C>T (p.Thr27932Ile)
c.83228C>T (p.Thr27743Ile)
c.80570C>T (p.Thr26857Ile)
c.80489C>T (p.Thr26830Ile)
c.62252C>T (p.Thr20751Ile)
c.52106C>T (p.Thr17369Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178553648G>CCA349519065TTN,TTN-AS1c.81653C>G (p.Thr27218Ser)
c.62738C>G (p.Thr20913Ser)
c.62537C>G (p.Thr20846Ser)
c.62162C>G (p.Thr20721Ser)
c.89357C>G (p.Thr29786Ser)
c.84434C>G (p.Thr28145Ser)
n.447-17652G>C
n.2043+11287G>C
c.88454C>G (p.Thr29485Ser)
c.62348C>G (p.Thr20783Ser)
c.62207C>G (p.Thr20736Ser)
c.88250C>G (p.Thr29417Ser)
c.83648C>G (p.Thr27883Ser)
c.83645C>G (p.Thr27882Ser)
c.80687C>G (p.Thr26896Ser)
c.62303C>G (p.Thr20768Ser)
c.83798C>G (p.Thr27933Ser)
c.83795C>G (p.Thr27932Ser)
c.83228C>G (p.Thr27743Ser)
c.80570C>G (p.Thr26857Ser)
c.80489C>G (p.Thr26830Ser)
c.62252C>G (p.Thr20751Ser)
c.52106C>G (p.Thr17369Ser)
 gnomAD v4
2g.178553648G=CA1310523014TTN,TTN-AS1c.81653C= (p.Thr27218=)
c.62738C= (p.Thr20913=)
c.62537C= (p.Thr20846=)
c.62162C= (p.Thr20721=)
c.89357C= (p.Thr29786=)
c.84434C= (p.Thr28145=)
n.447-17652G=
n.2043+11287G=
c.88454C= (p.Thr29485=)
c.62348C= (p.Thr20783=)
c.62207C= (p.Thr20736=)
c.88250C= (p.Thr29417=)
c.83648C= (p.Thr27883=)
c.83645C= (p.Thr27882=)
c.80687C= (p.Thr26896=)
c.62303C= (p.Thr20768=)
c.83798C= (p.Thr27933=)
c.83795C= (p.Thr27932=)
c.83228C= (p.Thr27743=)
c.80570C= (p.Thr26857=)
c.80489C= (p.Thr26830=)
c.62252C= (p.Thr20751=)
c.52106C= (p.Thr17369=)
2g.178553648G>TCA349519064TTN,TTN-AS1c.81653C>A (p.Thr27218Asn)
c.62738C>A (p.Thr20913Asn)
c.62537C>A (p.Thr20846Asn)
c.62162C>A (p.Thr20721Asn)
c.89357C>A (p.Thr29786Asn)
c.84434C>A (p.Thr28145Asn)
n.447-17652G>T
n.2043+11287G>T
c.88454C>A (p.Thr29485Asn)
c.62348C>A (p.Thr20783Asn)
c.62207C>A (p.Thr20736Asn)
c.88250C>A (p.Thr29417Asn)
c.83648C>A (p.Thr27883Asn)
c.83645C>A (p.Thr27882Asn)
c.80687C>A (p.Thr26896Asn)
c.62303C>A (p.Thr20768Asn)
c.83798C>A (p.Thr27933Asn)
c.83795C>A (p.Thr27932Asn)
c.83228C>A (p.Thr27743Asn)
c.80570C>A (p.Thr26857Asn)
c.80489C>A (p.Thr26830Asn)
c.62252C>A (p.Thr20751Asn)
c.52106C>A (p.Thr17369Asn)
2g.178553649T>ACA349519067TTN,TTN-AS1c.81652A>T (p.Thr27218Ser)
c.62737A>T (p.Thr20913Ser)
c.62536A>T (p.Thr20846Ser)
c.62161A>T (p.Thr20721Ser)
c.89356A>T (p.Thr29786Ser)
c.84433A>T (p.Thr28145Ser)
n.447-17651T>A
n.2043+11288T>A
c.88453A>T (p.Thr29485Ser)
c.62347A>T (p.Thr20783Ser)
c.62206A>T (p.Thr20736Ser)
c.88249A>T (p.Thr29417Ser)
c.83647A>T (p.Thr27883Ser)
c.83644A>T (p.Thr27882Ser)
c.80686A>T (p.Thr26896Ser)
c.62302A>T (p.Thr20768Ser)
c.83797A>T (p.Thr27933Ser)
c.83794A>T (p.Thr27932Ser)
c.83227A>T (p.Thr27743Ser)
c.80569A>T (p.Thr26857Ser)
c.80488A>T (p.Thr26830Ser)
c.62251A>T (p.Thr20751Ser)
c.52105A>T (p.Thr17369Ser)
2g.178553649T>CCA349519071TTN,TTN-AS1c.81652A>G (p.Thr27218Ala)
c.62737A>G (p.Thr20913Ala)
c.62536A>G (p.Thr20846Ala)
c.62161A>G (p.Thr20721Ala)
c.89356A>G (p.Thr29786Ala)
c.84433A>G (p.Thr28145Ala)
n.447-17651T>C
n.2043+11288T>C
c.88453A>G (p.Thr29485Ala)
c.62347A>G (p.Thr20783Ala)
c.62206A>G (p.Thr20736Ala)
c.88249A>G (p.Thr29417Ala)
c.83647A>G (p.Thr27883Ala)
c.83644A>G (p.Thr27882Ala)
c.80686A>G (p.Thr26896Ala)
c.62302A>G (p.Thr20768Ala)
c.83797A>G (p.Thr27933Ala)
c.83794A>G (p.Thr27932Ala)
c.83227A>G (p.Thr27743Ala)
c.80569A>G (p.Thr26857Ala)
c.80488A>G (p.Thr26830Ala)
c.62251A>G (p.Thr20751Ala)
c.52105A>G (p.Thr17369Ala)
2g.178553649T>GCA349519074TTN,TTN-AS1c.81652A>C (p.Thr27218Pro)
c.62737A>C (p.Thr20913Pro)
c.62536A>C (p.Thr20846Pro)
c.62161A>C (p.Thr20721Pro)
c.89356A>C (p.Thr29786Pro)
c.84433A>C (p.Thr28145Pro)
n.447-17651T>G
n.2043+11288T>G
c.88453A>C (p.Thr29485Pro)
c.62347A>C (p.Thr20783Pro)
c.62206A>C (p.Thr20736Pro)
c.88249A>C (p.Thr29417Pro)
c.83647A>C (p.Thr27883Pro)
c.83644A>C (p.Thr27882Pro)
c.80686A>C (p.Thr26896Pro)
c.62302A>C (p.Thr20768Pro)
c.83797A>C (p.Thr27933Pro)
c.83794A>C (p.Thr27932Pro)
c.83227A>C (p.Thr27743Pro)
c.80569A>C (p.Thr26857Pro)
c.80488A>C (p.Thr26830Pro)
c.62251A>C (p.Thr20751Pro)
c.52105A>C (p.Thr17369Pro)
2g.178553650A>CCA430246320TTN,TTN-AS1c.81651T>G (p.Ser27217=)
c.62736T>G (p.Ser20912=)
c.62535T>G (p.Ser20845=)
c.62160T>G (p.Ser20720=)
c.89355T>G (p.Ser29785=)
c.84432T>G (p.Ser28144=)
n.447-17650A>C
n.2043+11289A>C
c.88452T>G (p.Ser29484=)
c.62346T>G (p.Ser20782=)
c.62205T>G (p.Ser20735=)
c.88248T>G (p.Ser29416=)
c.83646T>G (p.Ser27882=)
c.83643T>G (p.Ser27881=)
c.80685T>G (p.Ser26895=)
c.62301T>G (p.Ser20767=)
c.83796T>G (p.Ser27932=)
c.83793T>G (p.Ser27931=)
c.83226T>G (p.Ser27742=)
c.80568T>G (p.Ser26856=)
c.80487T>G (p.Ser26829=)
c.62250T>G (p.Ser20750=)
c.52104T>G (p.Ser17368=)

Number of alleles fetched