Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178551845C>ACA349504127TTN,TTN-AS1c.83351G>T (p.Gly27784Val)
c.64436G>T (p.Gly21479Val)
c.64235G>T (p.Gly21412Val)
c.63860G>T (p.Gly21287Val)
c.91055G>T (p.Gly30352Val)
c.86132G>T (p.Gly28711Val)
n.447-19455C>A
n.2043+9484C>A
c.90152G>T (p.Gly30051Val)
c.64046G>T (p.Gly21349Val)
c.63905G>T (p.Gly21302Val)
c.89948G>T (p.Gly29983Val)
c.85346G>T (p.Gly28449Val)
c.85343G>T (p.Gly28448Val)
c.82385G>T (p.Gly27462Val)
c.64001G>T (p.Gly21334Val)
c.85496G>T (p.Gly28499Val)
c.85493G>T (p.Gly28498Val)
c.84926G>T (p.Gly28309Val)
c.82268G>T (p.Gly27423Val)
c.82187G>T (p.Gly27396Val)
c.63950G>T (p.Gly21317Val)
c.53804G>T (p.Gly17935Val)
2g.178551845C=CA1310521276TTN,TTN-AS1c.83351G= (p.Gly27784=)
c.64436G= (p.Gly21479=)
c.64235G= (p.Gly21412=)
c.63860G= (p.Gly21287=)
c.91055G= (p.Gly30352=)
c.86132G= (p.Gly28711=)
n.447-19455C=
n.2043+9484C=
c.90152G= (p.Gly30051=)
c.64046G= (p.Gly21349=)
c.63905G= (p.Gly21302=)
c.89948G= (p.Gly29983=)
c.85346G= (p.Gly28449=)
c.85343G= (p.Gly28448=)
c.82385G= (p.Gly27462=)
c.64001G= (p.Gly21334=)
c.85496G= (p.Gly28499=)
c.85493G= (p.Gly28498=)
c.84926G= (p.Gly28309=)
c.82268G= (p.Gly27423=)
c.82187G= (p.Gly27396=)
c.63950G= (p.Gly21317=)
c.53804G= (p.Gly17935=)
2g.178551845C>GCA349504130TTN,TTN-AS1c.83351G>C (p.Gly27784Ala)
c.64436G>C (p.Gly21479Ala)
c.64235G>C (p.Gly21412Ala)
c.63860G>C (p.Gly21287Ala)
c.91055G>C (p.Gly30352Ala)
c.86132G>C (p.Gly28711Ala)
n.447-19455C>G
n.2043+9484C>G
c.90152G>C (p.Gly30051Ala)
c.64046G>C (p.Gly21349Ala)
c.63905G>C (p.Gly21302Ala)
c.89948G>C (p.Gly29983Ala)
c.85346G>C (p.Gly28449Ala)
c.85343G>C (p.Gly28448Ala)
c.82385G>C (p.Gly27462Ala)
c.64001G>C (p.Gly21334Ala)
c.85496G>C (p.Gly28499Ala)
c.85493G>C (p.Gly28498Ala)
c.84926G>C (p.Gly28309Ala)
c.82268G>C (p.Gly27423Ala)
c.82187G>C (p.Gly27396Ala)
c.63950G>C (p.Gly21317Ala)
c.53804G>C (p.Gly17935Ala)
2g.178551845C>TCA349504134TTN,TTN-AS1c.83351G>A (p.Gly27784Asp)
c.64436G>A (p.Gly21479Asp)
c.64235G>A (p.Gly21412Asp)
c.63860G>A (p.Gly21287Asp)
c.91055G>A (p.Gly30352Asp)
c.86132G>A (p.Gly28711Asp)
n.447-19455C>T
n.2043+9484C>T
c.90152G>A (p.Gly30051Asp)
c.64046G>A (p.Gly21349Asp)
c.63905G>A (p.Gly21302Asp)
c.89948G>A (p.Gly29983Asp)
c.85346G>A (p.Gly28449Asp)
c.85343G>A (p.Gly28448Asp)
c.82385G>A (p.Gly27462Asp)
c.64001G>A (p.Gly21334Asp)
c.85496G>A (p.Gly28499Asp)
c.85493G>A (p.Gly28498Asp)
c.84926G>A (p.Gly28309Asp)
c.82268G>A (p.Gly27423Asp)
c.82187G>A (p.Gly27396Asp)
c.63950G>A (p.Gly21317Asp)
c.53804G>A (p.Gly17935Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178551846C>ACA349504135TTN,TTN-AS1c.83350G>T (p.Gly27784Cys)
c.64435G>T (p.Gly21479Cys)
c.64234G>T (p.Gly21412Cys)
c.63859G>T (p.Gly21287Cys)
c.91054G>T (p.Gly30352Cys)
c.86131G>T (p.Gly28711Cys)
n.447-19454C>A
n.2043+9485C>A
c.90151G>T (p.Gly30051Cys)
c.64045G>T (p.Gly21349Cys)
c.63904G>T (p.Gly21302Cys)
c.89947G>T (p.Gly29983Cys)
c.85345G>T (p.Gly28449Cys)
c.85342G>T (p.Gly28448Cys)
c.82384G>T (p.Gly27462Cys)
c.64000G>T (p.Gly21334Cys)
c.85495G>T (p.Gly28499Cys)
c.85492G>T (p.Gly28498Cys)
c.84925G>T (p.Gly28309Cys)
c.82267G>T (p.Gly27423Cys)
c.82186G>T (p.Gly27396Cys)
c.63949G>T (p.Gly21317Cys)
c.53803G>T (p.Gly17935Cys)
2g.178551846C>GCA349504138TTN,TTN-AS1c.83350G>C (p.Gly27784Arg)
c.64435G>C (p.Gly21479Arg)
c.64234G>C (p.Gly21412Arg)
c.63859G>C (p.Gly21287Arg)
c.91054G>C (p.Gly30352Arg)
c.86131G>C (p.Gly28711Arg)
n.447-19454C>G
n.2043+9485C>G
c.90151G>C (p.Gly30051Arg)
c.64045G>C (p.Gly21349Arg)
c.63904G>C (p.Gly21302Arg)
c.89947G>C (p.Gly29983Arg)
c.85345G>C (p.Gly28449Arg)
c.85342G>C (p.Gly28448Arg)
c.82384G>C (p.Gly27462Arg)
c.64000G>C (p.Gly21334Arg)
c.85495G>C (p.Gly28499Arg)
c.85492G>C (p.Gly28498Arg)
c.84925G>C (p.Gly28309Arg)
c.82267G>C (p.Gly27423Arg)
c.82186G>C (p.Gly27396Arg)
c.63949G>C (p.Gly21317Arg)
c.53803G>C (p.Gly17935Arg)
2g.178551846C>TCA349504143TTN,TTN-AS1c.83350G>A (p.Gly27784Ser)
c.64435G>A (p.Gly21479Ser)
c.64234G>A (p.Gly21412Ser)
c.63859G>A (p.Gly21287Ser)
c.91054G>A (p.Gly30352Ser)
c.86131G>A (p.Gly28711Ser)
n.447-19454C>T
n.2043+9485C>T
c.90151G>A (p.Gly30051Ser)
c.64045G>A (p.Gly21349Ser)
c.63904G>A (p.Gly21302Ser)
c.89947G>A (p.Gly29983Ser)
c.85345G>A (p.Gly28449Ser)
c.85342G>A (p.Gly28448Ser)
c.82384G>A (p.Gly27462Ser)
c.64000G>A (p.Gly21334Ser)
c.85495G>A (p.Gly28499Ser)
c.85492G>A (p.Gly28498Ser)
c.84925G>A (p.Gly28309Ser)
c.82267G>A (p.Gly27423Ser)
c.82186G>A (p.Gly27396Ser)
c.63949G>A (p.Gly21317Ser)
c.53803G>A (p.Gly17935Ser)
2g.178551847A=CA1310521278TTN,TTN-AS1c.83349T= (p.Asp27783=)
c.64434T= (p.Asp21478=)
c.64233T= (p.Asp21411=)
c.63858T= (p.Asp21286=)
c.91053T= (p.Asp30351=)
c.86130T= (p.Asp28710=)
n.447-19453A=
n.2043+9486A=
c.90150T= (p.Asp30050=)
c.64044T= (p.Asp21348=)
c.63903T= (p.Asp21301=)
c.89946T= (p.Asp29982=)
c.85344T= (p.Asp28448=)
c.85341T= (p.Asp28447=)
c.82383T= (p.Asp27461=)
c.63999T= (p.Asp21333=)
c.85494T= (p.Asp28498=)
c.85491T= (p.Asp28497=)
c.84924T= (p.Asp28308=)
c.82266T= (p.Asp27422=)
c.82185T= (p.Asp27395=)
c.63948T= (p.Asp21316=)
c.53802T= (p.Asp17934=)
2g.178551847A>CCA349504148TTN,TTN-AS1c.83349T>G (p.Asp27783Glu)
c.64434T>G (p.Asp21478Glu)
c.64233T>G (p.Asp21411Glu)
c.63858T>G (p.Asp21286Glu)
c.91053T>G (p.Asp30351Glu)
c.86130T>G (p.Asp28710Glu)
n.447-19453A>C
n.2043+9486A>C
c.90150T>G (p.Asp30050Glu)
c.64044T>G (p.Asp21348Glu)
c.63903T>G (p.Asp21301Glu)
c.89946T>G (p.Asp29982Glu)
c.85344T>G (p.Asp28448Glu)
c.85341T>G (p.Asp28447Glu)
c.82383T>G (p.Asp27461Glu)
c.63999T>G (p.Asp21333Glu)
c.85494T>G (p.Asp28498Glu)
c.85491T>G (p.Asp28497Glu)
c.84924T>G (p.Asp28308Glu)
c.82266T>G (p.Asp27422Glu)
c.82185T>G (p.Asp27395Glu)
c.63948T>G (p.Asp21316Glu)
c.53802T>G (p.Asp17934Glu)
2g.178551847A>GCA60977256TTN,TTN-AS1c.83349T>C (p.Asp27783=)
c.64434T>C (p.Asp21478=)
c.64233T>C (p.Asp21411=)
c.63858T>C (p.Asp21286=)
c.91053T>C (p.Asp30351=)
c.86130T>C (p.Asp28710=)
n.447-19453A>G
n.2043+9486A>G
c.90150T>C (p.Asp30050=)
c.64044T>C (p.Asp21348=)
c.63903T>C (p.Asp21301=)
c.89946T>C (p.Asp29982=)
c.85344T>C (p.Asp28448=)
c.85341T>C (p.Asp28447=)
c.82383T>C (p.Asp27461=)
c.63999T>C (p.Asp21333=)
c.85494T>C (p.Asp28498=)
c.85491T>C (p.Asp28497=)
c.84924T>C (p.Asp28308=)
c.82266T>C (p.Asp27422=)
c.82185T>C (p.Asp27395=)
c.63948T>C (p.Asp21316=)
c.53802T>C (p.Asp17934=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178551847A>TCA349504158TTN,TTN-AS1c.83349T>A (p.Asp27783Glu)
c.64434T>A (p.Asp21478Glu)
c.64233T>A (p.Asp21411Glu)
c.63858T>A (p.Asp21286Glu)
c.91053T>A (p.Asp30351Glu)
c.86130T>A (p.Asp28710Glu)
n.447-19453A>T
n.2043+9486A>T
c.90150T>A (p.Asp30050Glu)
c.64044T>A (p.Asp21348Glu)
c.63903T>A (p.Asp21301Glu)
c.89946T>A (p.Asp29982Glu)
c.85344T>A (p.Asp28448Glu)
c.85341T>A (p.Asp28447Glu)
c.82383T>A (p.Asp27461Glu)
c.63999T>A (p.Asp21333Glu)
c.85494T>A (p.Asp28498Glu)
c.85491T>A (p.Asp28497Glu)
c.84924T>A (p.Asp28308Glu)
c.82266T>A (p.Asp27422Glu)
c.82185T>A (p.Asp27395Glu)
c.63948T>A (p.Asp21316Glu)
c.53802T>A (p.Asp17934Glu)
2g.178551848T>ACA349504182TTN,TTN-AS1c.83348A>T (p.Asp27783Val)
c.64433A>T (p.Asp21478Val)
c.64232A>T (p.Asp21411Val)
c.63857A>T (p.Asp21286Val)
c.91052A>T (p.Asp30351Val)
c.86129A>T (p.Asp28710Val)
n.447-19452T>A
n.2043+9487T>A
c.90149A>T (p.Asp30050Val)
c.64043A>T (p.Asp21348Val)
c.63902A>T (p.Asp21301Val)
c.89945A>T (p.Asp29982Val)
c.85343A>T (p.Asp28448Val)
c.85340A>T (p.Asp28447Val)
c.82382A>T (p.Asp27461Val)
c.63998A>T (p.Asp21333Val)
c.85493A>T (p.Asp28498Val)
c.85490A>T (p.Asp28497Val)
c.84923A>T (p.Asp28308Val)
c.82265A>T (p.Asp27422Val)
c.82184A>T (p.Asp27395Val)
c.63947A>T (p.Asp21316Val)
c.53801A>T (p.Asp17934Val)
 gnomAD v4
2g.178551848T>CCA349504172TTN,TTN-AS1c.83348A>G (p.Asp27783Gly)
c.64433A>G (p.Asp21478Gly)
c.64232A>G (p.Asp21411Gly)
c.63857A>G (p.Asp21286Gly)
c.91052A>G (p.Asp30351Gly)
c.86129A>G (p.Asp28710Gly)
n.447-19452T>C
n.2043+9487T>C
c.90149A>G (p.Asp30050Gly)
c.64043A>G (p.Asp21348Gly)
c.63902A>G (p.Asp21301Gly)
c.89945A>G (p.Asp29982Gly)
c.85343A>G (p.Asp28448Gly)
c.85340A>G (p.Asp28447Gly)
c.82382A>G (p.Asp27461Gly)
c.63998A>G (p.Asp21333Gly)
c.85493A>G (p.Asp28498Gly)
c.85490A>G (p.Asp28497Gly)
c.84923A>G (p.Asp28308Gly)
c.82265A>G (p.Asp27422Gly)
c.82184A>G (p.Asp27395Gly)
c.63947A>G (p.Asp21316Gly)
c.53801A>G (p.Asp17934Gly)
2g.178551848T>GCA349504181TTN,TTN-AS1c.83348A>C (p.Asp27783Ala)
c.64433A>C (p.Asp21478Ala)
c.64232A>C (p.Asp21411Ala)
c.63857A>C (p.Asp21286Ala)
c.91052A>C (p.Asp30351Ala)
c.86129A>C (p.Asp28710Ala)
n.447-19452T>G
n.2043+9487T>G
c.90149A>C (p.Asp30050Ala)
c.64043A>C (p.Asp21348Ala)
c.63902A>C (p.Asp21301Ala)
c.89945A>C (p.Asp29982Ala)
c.85343A>C (p.Asp28448Ala)
c.85340A>C (p.Asp28447Ala)
c.82382A>C (p.Asp27461Ala)
c.63998A>C (p.Asp21333Ala)
c.85493A>C (p.Asp28498Ala)
c.85490A>C (p.Asp28497Ala)
c.84923A>C (p.Asp28308Ala)
c.82265A>C (p.Asp27422Ala)
c.82184A>C (p.Asp27395Ala)
c.63947A>C (p.Asp21316Ala)
c.53801A>C (p.Asp17934Ala)
2g.178551849C>ACA349504183TTN,TTN-AS1c.83347G>T (p.Asp27783Tyr)
c.64432G>T (p.Asp21478Tyr)
c.64231G>T (p.Asp21411Tyr)
c.63856G>T (p.Asp21286Tyr)
c.91051G>T (p.Asp30351Tyr)
c.86128G>T (p.Asp28710Tyr)
n.447-19451C>A
n.2043+9488C>A
c.90148G>T (p.Asp30050Tyr)
c.64042G>T (p.Asp21348Tyr)
c.63901G>T (p.Asp21301Tyr)
c.89944G>T (p.Asp29982Tyr)
c.85342G>T (p.Asp28448Tyr)
c.85339G>T (p.Asp28447Tyr)
c.82381G>T (p.Asp27461Tyr)
c.63997G>T (p.Asp21333Tyr)
c.85492G>T (p.Asp28498Tyr)
c.85489G>T (p.Asp28497Tyr)
c.84922G>T (p.Asp28308Tyr)
c.82264G>T (p.Asp27422Tyr)
c.82183G>T (p.Asp27395Tyr)
c.63946G>T (p.Asp21316Tyr)
c.53800G>T (p.Asp17934Tyr)
2g.178551849C=CA1310521280TTN,TTN-AS1c.83347G= (p.Asp27783=)
c.64432G= (p.Asp21478=)
c.64231G= (p.Asp21411=)
c.63856G= (p.Asp21286=)
c.91051G= (p.Asp30351=)
c.86128G= (p.Asp28710=)
n.447-19451C=
n.2043+9488C=
c.90148G= (p.Asp30050=)
c.64042G= (p.Asp21348=)
c.63901G= (p.Asp21301=)
c.89944G= (p.Asp29982=)
c.85342G= (p.Asp28448=)
c.85339G= (p.Asp28447=)
c.82381G= (p.Asp27461=)
c.63997G= (p.Asp21333=)
c.85492G= (p.Asp28498=)
c.85489G= (p.Asp28497=)
c.84922G= (p.Asp28308=)
c.82264G= (p.Asp27422=)
c.82183G= (p.Asp27395=)
c.63946G= (p.Asp21316=)
c.53800G= (p.Asp17934=)
2g.178551849C>GCA349504186TTN,TTN-AS1c.83347G>C (p.Asp27783His)
c.64432G>C (p.Asp21478His)
c.64231G>C (p.Asp21411His)
c.63856G>C (p.Asp21286His)
c.91051G>C (p.Asp30351His)
c.86128G>C (p.Asp28710His)
n.447-19451C>G
n.2043+9488C>G
c.90148G>C (p.Asp30050His)
c.64042G>C (p.Asp21348His)
c.63901G>C (p.Asp21301His)
c.89944G>C (p.Asp29982His)
c.85342G>C (p.Asp28448His)
c.85339G>C (p.Asp28447His)
c.82381G>C (p.Asp27461His)
c.63997G>C (p.Asp21333His)
c.85492G>C (p.Asp28498His)
c.85489G>C (p.Asp28497His)
c.84922G>C (p.Asp28308His)
c.82264G>C (p.Asp27422His)
c.82183G>C (p.Asp27395His)
c.63946G>C (p.Asp21316His)
c.53800G>C (p.Asp17934His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178551849C>TCA349504189TTN,TTN-AS1c.83347G>A (p.Asp27783Asn)
c.64432G>A (p.Asp21478Asn)
c.64231G>A (p.Asp21411Asn)
c.63856G>A (p.Asp21286Asn)
c.91051G>A (p.Asp30351Asn)
c.86128G>A (p.Asp28710Asn)
n.447-19451C>T
n.2043+9488C>T
c.90148G>A (p.Asp30050Asn)
c.64042G>A (p.Asp21348Asn)
c.63901G>A (p.Asp21301Asn)
c.89944G>A (p.Asp29982Asn)
c.85342G>A (p.Asp28448Asn)
c.85339G>A (p.Asp28447Asn)
c.82381G>A (p.Asp27461Asn)
c.63997G>A (p.Asp21333Asn)
c.85492G>A (p.Asp28498Asn)
c.85489G>A (p.Asp28497Asn)
c.84922G>A (p.Asp28308Asn)
c.82264G>A (p.Asp27422Asn)
c.82183G>A (p.Asp27395Asn)
c.63946G>A (p.Asp21316Asn)
c.53800G>A (p.Asp17934Asn)
2g.178551850A>CCA349504190TTN,TTN-AS1c.83346T>G (p.Tyr27782Ter)
c.64431T>G (p.Tyr21477Ter)
c.64230T>G (p.Tyr21410Ter)
c.63855T>G (p.Tyr21285Ter)
c.91050T>G (p.Tyr30350Ter)
c.86127T>G (p.Tyr28709Ter)
n.447-19450A>C
n.2043+9489A>C
c.90147T>G (p.Tyr30049Ter)
c.64041T>G (p.Tyr21347Ter)
c.63900T>G (p.Tyr21300Ter)
c.89943T>G (p.Tyr29981Ter)
c.85341T>G (p.Tyr28447Ter)
c.85338T>G (p.Tyr28446Ter)
c.82380T>G (p.Tyr27460Ter)
c.63996T>G (p.Tyr21332Ter)
c.85491T>G (p.Tyr28497Ter)
c.85488T>G (p.Tyr28496Ter)
c.84921T>G (p.Tyr28307Ter)
c.82263T>G (p.Tyr27421Ter)
c.82182T>G (p.Tyr27394Ter)
c.63945T>G (p.Tyr21315Ter)
c.53799T>G (p.Tyr17933Ter)
2g.178551850A>GCA430245402TTN,TTN-AS1c.83346T>C (p.Tyr27782=)
c.64431T>C (p.Tyr21477=)
c.64230T>C (p.Tyr21410=)
c.63855T>C (p.Tyr21285=)
c.91050T>C (p.Tyr30350=)
c.86127T>C (p.Tyr28709=)
n.447-19450A>G
n.2043+9489A>G
c.90147T>C (p.Tyr30049=)
c.64041T>C (p.Tyr21347=)
c.63900T>C (p.Tyr21300=)
c.89943T>C (p.Tyr29981=)
c.85341T>C (p.Tyr28447=)
c.85338T>C (p.Tyr28446=)
c.82380T>C (p.Tyr27460=)
c.63996T>C (p.Tyr21332=)
c.85491T>C (p.Tyr28497=)
c.85488T>C (p.Tyr28496=)
c.84921T>C (p.Tyr28307=)
c.82263T>C (p.Tyr27421=)
c.82182T>C (p.Tyr27394=)
c.63945T>C (p.Tyr21315=)
c.53799T>C (p.Tyr17933=)
 gnomAD v4
2g.178551850A>TCA349504192TTN,TTN-AS1c.83346T>A (p.Tyr27782Ter)
c.64431T>A (p.Tyr21477Ter)
c.64230T>A (p.Tyr21410Ter)
c.63855T>A (p.Tyr21285Ter)
c.91050T>A (p.Tyr30350Ter)
c.86127T>A (p.Tyr28709Ter)
n.447-19450A>T
n.2043+9489A>T
c.90147T>A (p.Tyr30049Ter)
c.64041T>A (p.Tyr21347Ter)
c.63900T>A (p.Tyr21300Ter)
c.89943T>A (p.Tyr29981Ter)
c.85341T>A (p.Tyr28447Ter)
c.85338T>A (p.Tyr28446Ter)
c.82380T>A (p.Tyr27460Ter)
c.63996T>A (p.Tyr21332Ter)
c.85491T>A (p.Tyr28497Ter)
c.85488T>A (p.Tyr28496Ter)
c.84921T>A (p.Tyr28307Ter)
c.82263T>A (p.Tyr27421Ter)
c.82182T>A (p.Tyr27394Ter)
c.63945T>A (p.Tyr21315Ter)
c.53799T>A (p.Tyr17933Ter)
2g.178551851T>ACA349504194TTN,TTN-AS1c.83345A>T (p.Tyr27782Phe)
c.64430A>T (p.Tyr21477Phe)
c.64229A>T (p.Tyr21410Phe)
c.63854A>T (p.Tyr21285Phe)
c.91049A>T (p.Tyr30350Phe)
c.86126A>T (p.Tyr28709Phe)
n.447-19449T>A
n.2043+9490T>A
c.90146A>T (p.Tyr30049Phe)
c.64040A>T (p.Tyr21347Phe)
c.63899A>T (p.Tyr21300Phe)
c.89942A>T (p.Tyr29981Phe)
c.85340A>T (p.Tyr28447Phe)
c.85337A>T (p.Tyr28446Phe)
c.82379A>T (p.Tyr27460Phe)
c.63995A>T (p.Tyr21332Phe)
c.85490A>T (p.Tyr28497Phe)
c.85487A>T (p.Tyr28496Phe)
c.84920A>T (p.Tyr28307Phe)
c.82262A>T (p.Tyr27421Phe)
c.82181A>T (p.Tyr27394Phe)
c.63944A>T (p.Tyr21315Phe)
c.53798A>T (p.Tyr17933Phe)
2g.178551851T>CCA349504196TTN,TTN-AS1c.83345A>G (p.Tyr27782Cys)
c.64430A>G (p.Tyr21477Cys)
c.64229A>G (p.Tyr21410Cys)
c.63854A>G (p.Tyr21285Cys)
c.91049A>G (p.Tyr30350Cys)
c.86126A>G (p.Tyr28709Cys)
n.447-19449T>C
n.2043+9490T>C
c.90146A>G (p.Tyr30049Cys)
c.64040A>G (p.Tyr21347Cys)
c.63899A>G (p.Tyr21300Cys)
c.89942A>G (p.Tyr29981Cys)
c.85340A>G (p.Tyr28447Cys)
c.85337A>G (p.Tyr28446Cys)
c.82379A>G (p.Tyr27460Cys)
c.63995A>G (p.Tyr21332Cys)
c.85490A>G (p.Tyr28497Cys)
c.85487A>G (p.Tyr28496Cys)
c.84920A>G (p.Tyr28307Cys)
c.82262A>G (p.Tyr27421Cys)
c.82181A>G (p.Tyr27394Cys)
c.63944A>G (p.Tyr21315Cys)
c.53798A>G (p.Tyr17933Cys)
2g.178551851T>GCA349504197TTN,TTN-AS1c.83345A>C (p.Tyr27782Ser)
c.64430A>C (p.Tyr21477Ser)
c.64229A>C (p.Tyr21410Ser)
c.63854A>C (p.Tyr21285Ser)
c.91049A>C (p.Tyr30350Ser)
c.86126A>C (p.Tyr28709Ser)
n.447-19449T>G
n.2043+9490T>G
c.90146A>C (p.Tyr30049Ser)
c.64040A>C (p.Tyr21347Ser)
c.63899A>C (p.Tyr21300Ser)
c.89942A>C (p.Tyr29981Ser)
c.85340A>C (p.Tyr28447Ser)
c.85337A>C (p.Tyr28446Ser)
c.82379A>C (p.Tyr27460Ser)
c.63995A>C (p.Tyr21332Ser)
c.85490A>C (p.Tyr28497Ser)
c.85487A>C (p.Tyr28496Ser)
c.84920A>C (p.Tyr28307Ser)
c.82262A>C (p.Tyr27421Ser)
c.82181A>C (p.Tyr27394Ser)
c.63944A>C (p.Tyr21315Ser)
c.53798A>C (p.Tyr17933Ser)
2g.178551852A>CCA349504199TTN,TTN-AS1c.83344T>G (p.Tyr27782Asp)
c.64429T>G (p.Tyr21477Asp)
c.64228T>G (p.Tyr21410Asp)
c.63853T>G (p.Tyr21285Asp)
c.91048T>G (p.Tyr30350Asp)
c.86125T>G (p.Tyr28709Asp)
n.447-19448A>C
n.2043+9491A>C
c.90145T>G (p.Tyr30049Asp)
c.64039T>G (p.Tyr21347Asp)
c.63898T>G (p.Tyr21300Asp)
c.89941T>G (p.Tyr29981Asp)
c.85339T>G (p.Tyr28447Asp)
c.85336T>G (p.Tyr28446Asp)
c.82378T>G (p.Tyr27460Asp)
c.63994T>G (p.Tyr21332Asp)
c.85489T>G (p.Tyr28497Asp)
c.85486T>G (p.Tyr28496Asp)
c.84919T>G (p.Tyr28307Asp)
c.82261T>G (p.Tyr27421Asp)
c.82180T>G (p.Tyr27394Asp)
c.63943T>G (p.Tyr21315Asp)
c.53797T>G (p.Tyr17933Asp)
2g.178551852A>GCA349504201TTN,TTN-AS1c.83344T>C (p.Tyr27782His)
c.64429T>C (p.Tyr21477His)
c.64228T>C (p.Tyr21410His)
c.63853T>C (p.Tyr21285His)
c.91048T>C (p.Tyr30350His)
c.86125T>C (p.Tyr28709His)
n.447-19448A>G
n.2043+9491A>G
c.90145T>C (p.Tyr30049His)
c.64039T>C (p.Tyr21347His)
c.63898T>C (p.Tyr21300His)
c.89941T>C (p.Tyr29981His)
c.85339T>C (p.Tyr28447His)
c.85336T>C (p.Tyr28446His)
c.82378T>C (p.Tyr27460His)
c.63994T>C (p.Tyr21332His)
c.85489T>C (p.Tyr28497His)
c.85486T>C (p.Tyr28496His)
c.84919T>C (p.Tyr28307His)
c.82261T>C (p.Tyr27421His)
c.82180T>C (p.Tyr27394His)
c.63943T>C (p.Tyr21315His)
c.53797T>C (p.Tyr17933His)
2g.178551852A>TCA349504209TTN,TTN-AS1c.83344T>A (p.Tyr27782Asn)
c.64429T>A (p.Tyr21477Asn)
c.64228T>A (p.Tyr21410Asn)
c.63853T>A (p.Tyr21285Asn)
c.91048T>A (p.Tyr30350Asn)
c.86125T>A (p.Tyr28709Asn)
n.447-19448A>T
n.2043+9491A>T
c.90145T>A (p.Tyr30049Asn)
c.64039T>A (p.Tyr21347Asn)
c.63898T>A (p.Tyr21300Asn)
c.89941T>A (p.Tyr29981Asn)
c.85339T>A (p.Tyr28447Asn)
c.85336T>A (p.Tyr28446Asn)
c.82378T>A (p.Tyr27460Asn)
c.63994T>A (p.Tyr21332Asn)
c.85489T>A (p.Tyr28497Asn)
c.85486T>A (p.Tyr28496Asn)
c.84919T>A (p.Tyr28307Asn)
c.82261T>A (p.Tyr27421Asn)
c.82180T>A (p.Tyr27394Asn)
c.63943T>A (p.Tyr21315Asn)
c.53797T>A (p.Tyr17933Asn)
2g.178551853A>CCA430245406TTN,TTN-AS1c.83343T>G (p.Val27781=)
c.64428T>G (p.Val21476=)
c.64227T>G (p.Val21409=)
c.63852T>G (p.Val21284=)
c.91047T>G (p.Val30349=)
c.86124T>G (p.Val28708=)
n.447-19447A>C
n.2043+9492A>C
c.90144T>G (p.Val30048=)
c.64038T>G (p.Val21346=)
c.63897T>G (p.Val21299=)
c.89940T>G (p.Val29980=)
c.85338T>G (p.Val28446=)
c.85335T>G (p.Val28445=)
c.82377T>G (p.Val27459=)
c.63993T>G (p.Val21331=)
c.85488T>G (p.Val28496=)
c.85485T>G (p.Val28495=)
c.84918T>G (p.Val28306=)
c.82260T>G (p.Val27420=)
c.82179T>G (p.Val27393=)
c.63942T>G (p.Val21314=)
c.53796T>G (p.Val17932=)
2g.178551853A>GCA430245408TTN,TTN-AS1c.83343T>C (p.Val27781=)
c.64428T>C (p.Val21476=)
c.64227T>C (p.Val21409=)
c.63852T>C (p.Val21284=)
c.91047T>C (p.Val30349=)
c.86124T>C (p.Val28708=)
n.447-19447A>G
n.2043+9492A>G
c.90144T>C (p.Val30048=)
c.64038T>C (p.Val21346=)
c.63897T>C (p.Val21299=)
c.89940T>C (p.Val29980=)
c.85338T>C (p.Val28446=)
c.85335T>C (p.Val28445=)
c.82377T>C (p.Val27459=)
c.63993T>C (p.Val21331=)
c.85488T>C (p.Val28496=)
c.85485T>C (p.Val28495=)
c.84918T>C (p.Val28306=)
c.82260T>C (p.Val27420=)
c.82179T>C (p.Val27393=)
c.63942T>C (p.Val21314=)
c.53796T>C (p.Val17932=)
2g.178551853A>TCA430245407TTN,TTN-AS1c.83343T>A (p.Val27781=)
c.64428T>A (p.Val21476=)
c.64227T>A (p.Val21409=)
c.63852T>A (p.Val21284=)
c.91047T>A (p.Val30349=)
c.86124T>A (p.Val28708=)
n.447-19447A>T
n.2043+9492A>T
c.90144T>A (p.Val30048=)
c.64038T>A (p.Val21346=)
c.63897T>A (p.Val21299=)
c.89940T>A (p.Val29980=)
c.85338T>A (p.Val28446=)
c.85335T>A (p.Val28445=)
c.82377T>A (p.Val27459=)
c.63993T>A (p.Val21331=)
c.85488T>A (p.Val28496=)
c.85485T>A (p.Val28495=)
c.84918T>A (p.Val28306=)
c.82260T>A (p.Val27420=)
c.82179T>A (p.Val27393=)
c.63942T>A (p.Val21314=)
c.53796T>A (p.Val17932=)
2g.178551854A>CCA349504260TTN,TTN-AS1c.83342T>G (p.Val27781Gly)
c.64427T>G (p.Val21476Gly)
c.64226T>G (p.Val21409Gly)
c.63851T>G (p.Val21284Gly)
c.91046T>G (p.Val30349Gly)
c.86123T>G (p.Val28708Gly)
n.447-19446A>C
n.2043+9493A>C
c.90143T>G (p.Val30048Gly)
c.64037T>G (p.Val21346Gly)
c.63896T>G (p.Val21299Gly)
c.89939T>G (p.Val29980Gly)
c.85337T>G (p.Val28446Gly)
c.85334T>G (p.Val28445Gly)
c.82376T>G (p.Val27459Gly)
c.63992T>G (p.Val21331Gly)
c.85487T>G (p.Val28496Gly)
c.85484T>G (p.Val28495Gly)
c.84917T>G (p.Val28306Gly)
c.82259T>G (p.Val27420Gly)
c.82178T>G (p.Val27393Gly)
c.63941T>G (p.Val21314Gly)
c.53795T>G (p.Val17932Gly)
2g.178551854A>GCA349504241TTN,TTN-AS1c.83342T>C (p.Val27781Ala)
c.64427T>C (p.Val21476Ala)
c.64226T>C (p.Val21409Ala)
c.63851T>C (p.Val21284Ala)
c.91046T>C (p.Val30349Ala)
c.86123T>C (p.Val28708Ala)
n.447-19446A>G
n.2043+9493A>G
c.90143T>C (p.Val30048Ala)
c.64037T>C (p.Val21346Ala)
c.63896T>C (p.Val21299Ala)
c.89939T>C (p.Val29980Ala)
c.85337T>C (p.Val28446Ala)
c.85334T>C (p.Val28445Ala)
c.82376T>C (p.Val27459Ala)
c.63992T>C (p.Val21331Ala)
c.85487T>C (p.Val28496Ala)
c.85484T>C (p.Val28495Ala)
c.84917T>C (p.Val28306Ala)
c.82259T>C (p.Val27420Ala)
c.82178T>C (p.Val27393Ala)
c.63941T>C (p.Val21314Ala)
c.53795T>C (p.Val17932Ala)
2g.178551854A>TCA349504214TTN,TTN-AS1c.83342T>A (p.Val27781Asp)
c.64427T>A (p.Val21476Asp)
c.64226T>A (p.Val21409Asp)
c.63851T>A (p.Val21284Asp)
c.91046T>A (p.Val30349Asp)
c.86123T>A (p.Val28708Asp)
n.447-19446A>T
n.2043+9493A>T
c.90143T>A (p.Val30048Asp)
c.64037T>A (p.Val21346Asp)
c.63896T>A (p.Val21299Asp)
c.89939T>A (p.Val29980Asp)
c.85337T>A (p.Val28446Asp)
c.85334T>A (p.Val28445Asp)
c.82376T>A (p.Val27459Asp)
c.63992T>A (p.Val21331Asp)
c.85487T>A (p.Val28496Asp)
c.85484T>A (p.Val28495Asp)
c.84917T>A (p.Val28306Asp)
c.82259T>A (p.Val27420Asp)
c.82178T>A (p.Val27393Asp)
c.63941T>A (p.Val21314Asp)
c.53795T>A (p.Val17932Asp)
2g.178551855C>ACA349504276TTN,TTN-AS1c.83341G>T (p.Val27781Phe)
c.64426G>T (p.Val21476Phe)
c.64225G>T (p.Val21409Phe)
c.63850G>T (p.Val21284Phe)
c.91045G>T (p.Val30349Phe)
c.86122G>T (p.Val28708Phe)
n.447-19445C>A
n.2043+9494C>A
c.90142G>T (p.Val30048Phe)
c.64036G>T (p.Val21346Phe)
c.63895G>T (p.Val21299Phe)
c.89938G>T (p.Val29980Phe)
c.85336G>T (p.Val28446Phe)
c.85333G>T (p.Val28445Phe)
c.82375G>T (p.Val27459Phe)
c.63991G>T (p.Val21331Phe)
c.85486G>T (p.Val28496Phe)
c.85483G>T (p.Val28495Phe)
c.84916G>T (p.Val28306Phe)
c.82258G>T (p.Val27420Phe)
c.82177G>T (p.Val27393Phe)
c.63940G>T (p.Val21314Phe)
c.53794G>T (p.Val17932Phe)
2g.178551855C>GCA349504266TTN,TTN-AS1c.83341G>C (p.Val27781Leu)
c.64426G>C (p.Val21476Leu)
c.64225G>C (p.Val21409Leu)
c.63850G>C (p.Val21284Leu)
c.91045G>C (p.Val30349Leu)
c.86122G>C (p.Val28708Leu)
n.447-19445C>G
n.2043+9494C>G
c.90142G>C (p.Val30048Leu)
c.64036G>C (p.Val21346Leu)
c.63895G>C (p.Val21299Leu)
c.89938G>C (p.Val29980Leu)
c.85336G>C (p.Val28446Leu)
c.85333G>C (p.Val28445Leu)
c.82375G>C (p.Val27459Leu)
c.63991G>C (p.Val21331Leu)
c.85486G>C (p.Val28496Leu)
c.85483G>C (p.Val28495Leu)
c.84916G>C (p.Val28306Leu)
c.82258G>C (p.Val27420Leu)
c.82177G>C (p.Val27393Leu)
c.63940G>C (p.Val21314Leu)
c.53794G>C (p.Val17932Leu)
2g.178551855C>TCA349504273TTN,TTN-AS1c.83341G>A (p.Val27781Ile)
c.64426G>A (p.Val21476Ile)
c.64225G>A (p.Val21409Ile)
c.63850G>A (p.Val21284Ile)
c.91045G>A (p.Val30349Ile)
c.86122G>A (p.Val28708Ile)
n.447-19445C>T
n.2043+9494C>T
c.90142G>A (p.Val30048Ile)
c.64036G>A (p.Val21346Ile)
c.63895G>A (p.Val21299Ile)
c.89938G>A (p.Val29980Ile)
c.85336G>A (p.Val28446Ile)
c.85333G>A (p.Val28445Ile)
c.82375G>A (p.Val27459Ile)
c.63991G>A (p.Val21331Ile)
c.85486G>A (p.Val28496Ile)
c.85483G>A (p.Val28495Ile)
c.84916G>A (p.Val28306Ile)
c.82258G>A (p.Val27420Ile)
c.82177G>A (p.Val27393Ile)
c.63940G>A (p.Val21314Ile)
c.53794G>A (p.Val17932Ile)
2g.178551856T>ACA430245411TTN,TTN-AS1c.83340A>T (p.Pro27780=)
c.64425A>T (p.Pro21475=)
c.64224A>T (p.Pro21408=)
c.63849A>T (p.Pro21283=)
c.91044A>T (p.Pro30348=)
c.86121A>T (p.Pro28707=)
n.447-19444T>A
n.2043+9495T>A
c.90141A>T (p.Pro30047=)
c.64035A>T (p.Pro21345=)
c.63894A>T (p.Pro21298=)
c.89937A>T (p.Pro29979=)
c.85335A>T (p.Pro28445=)
c.85332A>T (p.Pro28444=)
c.82374A>T (p.Pro27458=)
c.63990A>T (p.Pro21330=)
c.85485A>T (p.Pro28495=)
c.85482A>T (p.Pro28494=)
c.84915A>T (p.Pro28305=)
c.82257A>T (p.Pro27419=)
c.82176A>T (p.Pro27392=)
c.63939A>T (p.Pro21313=)
c.53793A>T (p.Pro17931=)
2g.178551856T>CCA430245412TTN,TTN-AS1c.83340A>G (p.Pro27780=)
c.64425A>G (p.Pro21475=)
c.64224A>G (p.Pro21408=)
c.63849A>G (p.Pro21283=)
c.91044A>G (p.Pro30348=)
c.86121A>G (p.Pro28707=)
n.447-19444T>C
n.2043+9495T>C
c.90141A>G (p.Pro30047=)
c.64035A>G (p.Pro21345=)
c.63894A>G (p.Pro21298=)
c.89937A>G (p.Pro29979=)
c.85335A>G (p.Pro28445=)
c.85332A>G (p.Pro28444=)
c.82374A>G (p.Pro27458=)
c.63990A>G (p.Pro21330=)
c.85485A>G (p.Pro28495=)
c.85482A>G (p.Pro28494=)
c.84915A>G (p.Pro28305=)
c.82257A>G (p.Pro27419=)
c.82176A>G (p.Pro27392=)
c.63939A>G (p.Pro21313=)
c.53793A>G (p.Pro17931=)
2g.178551856T>GCA430245413TTN,TTN-AS1c.83340A>C (p.Pro27780=)
c.64425A>C (p.Pro21475=)
c.64224A>C (p.Pro21408=)
c.63849A>C (p.Pro21283=)
c.91044A>C (p.Pro30348=)
c.86121A>C (p.Pro28707=)
n.447-19444T>G
n.2043+9495T>G
c.90141A>C (p.Pro30047=)
c.64035A>C (p.Pro21345=)
c.63894A>C (p.Pro21298=)
c.89937A>C (p.Pro29979=)
c.85335A>C (p.Pro28445=)
c.85332A>C (p.Pro28444=)
c.82374A>C (p.Pro27458=)
c.63990A>C (p.Pro21330=)
c.85485A>C (p.Pro28495=)
c.85482A>C (p.Pro28494=)
c.84915A>C (p.Pro28305=)
c.82257A>C (p.Pro27419=)
c.82176A>C (p.Pro27392=)
c.63939A>C (p.Pro21313=)
c.53793A>C (p.Pro17931=)
2g.178551857G>ACA349504279TTN,TTN-AS1c.83339C>T (p.Pro27780Leu)
c.64424C>T (p.Pro21475Leu)
c.64223C>T (p.Pro21408Leu)
c.63848C>T (p.Pro21283Leu)
c.91043C>T (p.Pro30348Leu)
c.86120C>T (p.Pro28707Leu)
n.447-19443G>A
n.2043+9496G>A
c.90140C>T (p.Pro30047Leu)
c.64034C>T (p.Pro21345Leu)
c.63893C>T (p.Pro21298Leu)
c.89936C>T (p.Pro29979Leu)
c.85334C>T (p.Pro28445Leu)
c.85331C>T (p.Pro28444Leu)
c.82373C>T (p.Pro27458Leu)
c.63989C>T (p.Pro21330Leu)
c.85484C>T (p.Pro28495Leu)
c.85481C>T (p.Pro28494Leu)
c.84914C>T (p.Pro28305Leu)
c.82256C>T (p.Pro27419Leu)
c.82175C>T (p.Pro27392Leu)
c.63938C>T (p.Pro21313Leu)
c.53792C>T (p.Pro17931Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178551857G>CCA349504286TTN,TTN-AS1c.83339C>G (p.Pro27780Arg)
c.64424C>G (p.Pro21475Arg)
c.64223C>G (p.Pro21408Arg)
c.63848C>G (p.Pro21283Arg)
c.91043C>G (p.Pro30348Arg)
c.86120C>G (p.Pro28707Arg)
n.447-19443G>C
n.2043+9496G>C
c.90140C>G (p.Pro30047Arg)
c.64034C>G (p.Pro21345Arg)
c.63893C>G (p.Pro21298Arg)
c.89936C>G (p.Pro29979Arg)
c.85334C>G (p.Pro28445Arg)
c.85331C>G (p.Pro28444Arg)
c.82373C>G (p.Pro27458Arg)
c.63989C>G (p.Pro21330Arg)
c.85484C>G (p.Pro28495Arg)
c.85481C>G (p.Pro28494Arg)
c.84914C>G (p.Pro28305Arg)
c.82256C>G (p.Pro27419Arg)
c.82175C>G (p.Pro27392Arg)
c.63938C>G (p.Pro21313Arg)
c.53792C>G (p.Pro17931Arg)
2g.178551857G=CA1310521282TTN,TTN-AS1c.83339C= (p.Pro27780=)
c.64424C= (p.Pro21475=)
c.64223C= (p.Pro21408=)
c.63848C= (p.Pro21283=)
c.91043C= (p.Pro30348=)
c.86120C= (p.Pro28707=)
n.447-19443G=
n.2043+9496G=
c.90140C= (p.Pro30047=)
c.64034C= (p.Pro21345=)
c.63893C= (p.Pro21298=)
c.89936C= (p.Pro29979=)
c.85334C= (p.Pro28445=)
c.85331C= (p.Pro28444=)
c.82373C= (p.Pro27458=)
c.63989C= (p.Pro21330=)
c.85484C= (p.Pro28495=)
c.85481C= (p.Pro28494=)
c.84914C= (p.Pro28305=)
c.82256C= (p.Pro27419=)
c.82175C= (p.Pro27392=)
c.63938C= (p.Pro21313=)
c.53792C= (p.Pro17931=)
2g.178551857G>TCA349504292TTN,TTN-AS1c.83339C>A (p.Pro27780Gln)
c.64424C>A (p.Pro21475Gln)
c.64223C>A (p.Pro21408Gln)
c.63848C>A (p.Pro21283Gln)
c.91043C>A (p.Pro30348Gln)
c.86120C>A (p.Pro28707Gln)
n.447-19443G>T
n.2043+9496G>T
c.90140C>A (p.Pro30047Gln)
c.64034C>A (p.Pro21345Gln)
c.63893C>A (p.Pro21298Gln)
c.89936C>A (p.Pro29979Gln)
c.85334C>A (p.Pro28445Gln)
c.85331C>A (p.Pro28444Gln)
c.82373C>A (p.Pro27458Gln)
c.63989C>A (p.Pro21330Gln)
c.85484C>A (p.Pro28495Gln)
c.85481C>A (p.Pro28494Gln)
c.84914C>A (p.Pro28305Gln)
c.82256C>A (p.Pro27419Gln)
c.82175C>A (p.Pro27392Gln)
c.63938C>A (p.Pro21313Gln)
c.53792C>A (p.Pro17931Gln)
2g.178551858G>ACA1987702TTN,TTN-AS1c.83338C>T (p.Pro27780Ser)
c.64423C>T (p.Pro21475Ser)
c.64222C>T (p.Pro21408Ser)
c.63847C>T (p.Pro21283Ser)
c.91042C>T (p.Pro30348Ser)
c.86119C>T (p.Pro28707Ser)
n.447-19442G>A
n.2043+9497G>A
c.90139C>T (p.Pro30047Ser)
c.64033C>T (p.Pro21345Ser)
c.63892C>T (p.Pro21298Ser)
c.89935C>T (p.Pro29979Ser)
c.85333C>T (p.Pro28445Ser)
c.85330C>T (p.Pro28444Ser)
c.82372C>T (p.Pro27458Ser)
c.63988C>T (p.Pro21330Ser)
c.85483C>T (p.Pro28495Ser)
c.85480C>T (p.Pro28494Ser)
c.84913C>T (p.Pro28305Ser)
c.82255C>T (p.Pro27419Ser)
c.82174C>T (p.Pro27392Ser)
c.63937C>T (p.Pro21313Ser)
c.53791C>T (p.Pro17931Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551858G>CCA349504295TTN,TTN-AS1c.83338C>G (p.Pro27780Ala)
c.64423C>G (p.Pro21475Ala)
c.64222C>G (p.Pro21408Ala)
c.63847C>G (p.Pro21283Ala)
c.91042C>G (p.Pro30348Ala)
c.86119C>G (p.Pro28707Ala)
n.447-19442G>C
n.2043+9497G>C
c.90139C>G (p.Pro30047Ala)
c.64033C>G (p.Pro21345Ala)
c.63892C>G (p.Pro21298Ala)
c.89935C>G (p.Pro29979Ala)
c.85333C>G (p.Pro28445Ala)
c.85330C>G (p.Pro28444Ala)
c.82372C>G (p.Pro27458Ala)
c.63988C>G (p.Pro21330Ala)
c.85483C>G (p.Pro28495Ala)
c.85480C>G (p.Pro28494Ala)
c.84913C>G (p.Pro28305Ala)
c.82255C>G (p.Pro27419Ala)
c.82174C>G (p.Pro27392Ala)
c.63937C>G (p.Pro21313Ala)
c.53791C>G (p.Pro17931Ala)
2g.178551858G=CA1310521284TTN,TTN-AS1c.83338C= (p.Pro27780=)
c.64423C= (p.Pro21475=)
c.64222C= (p.Pro21408=)
c.63847C= (p.Pro21283=)
c.91042C= (p.Pro30348=)
c.86119C= (p.Pro28707=)
n.447-19442G=
n.2043+9497G=
c.90139C= (p.Pro30047=)
c.64033C= (p.Pro21345=)
c.63892C= (p.Pro21298=)
c.89935C= (p.Pro29979=)
c.85333C= (p.Pro28445=)
c.85330C= (p.Pro28444=)
c.82372C= (p.Pro27458=)
c.63988C= (p.Pro21330=)
c.85483C= (p.Pro28495=)
c.85480C= (p.Pro28494=)
c.84913C= (p.Pro28305=)
c.82255C= (p.Pro27419=)
c.82174C= (p.Pro27392=)
c.63937C= (p.Pro21313=)
c.53791C= (p.Pro17931=)
2g.178551858G>TCA349504296TTN,TTN-AS1c.83338C>A (p.Pro27780Thr)
c.64423C>A (p.Pro21475Thr)
c.64222C>A (p.Pro21408Thr)
c.63847C>A (p.Pro21283Thr)
c.91042C>A (p.Pro30348Thr)
c.86119C>A (p.Pro28707Thr)
n.447-19442G>T
n.2043+9497G>T
c.90139C>A (p.Pro30047Thr)
c.64033C>A (p.Pro21345Thr)
c.63892C>A (p.Pro21298Thr)
c.89935C>A (p.Pro29979Thr)
c.85333C>A (p.Pro28445Thr)
c.85330C>A (p.Pro28444Thr)
c.82372C>A (p.Pro27458Thr)
c.63988C>A (p.Pro21330Thr)
c.85483C>A (p.Pro28495Thr)
c.85480C>A (p.Pro28494Thr)
c.84913C>A (p.Pro28305Thr)
c.82255C>A (p.Pro27419Thr)
c.82174C>A (p.Pro27392Thr)
c.63937C>A (p.Pro21313Thr)
c.53791C>A (p.Pro17931Thr)
 gnomAD v4
2g.178551859A>CCA430245417TTN,TTN-AS1c.83337T>G (p.Ala27779=)
c.64422T>G (p.Ala21474=)
c.64221T>G (p.Ala21407=)
c.63846T>G (p.Ala21282=)
c.91041T>G (p.Ala30347=)
c.86118T>G (p.Ala28706=)
n.447-19441A>C
n.2043+9498A>C
c.90138T>G (p.Ala30046=)
c.64032T>G (p.Ala21344=)
c.63891T>G (p.Ala21297=)
c.89934T>G (p.Ala29978=)
c.85332T>G (p.Ala28444=)
c.85329T>G (p.Ala28443=)
c.82371T>G (p.Ala27457=)
c.63987T>G (p.Ala21329=)
c.85482T>G (p.Ala28494=)
c.85479T>G (p.Ala28493=)
c.84912T>G (p.Ala28304=)
c.82254T>G (p.Ala27418=)
c.82173T>G (p.Ala27391=)
c.63936T>G (p.Ala21312=)
c.53790T>G (p.Ala17930=)
2g.178551859A>GCA430245418TTN,TTN-AS1c.83337T>C (p.Ala27779=)
c.64422T>C (p.Ala21474=)
c.64221T>C (p.Ala21407=)
c.63846T>C (p.Ala21282=)
c.91041T>C (p.Ala30347=)
c.86118T>C (p.Ala28706=)
n.447-19441A>G
n.2043+9498A>G
c.90138T>C (p.Ala30046=)
c.64032T>C (p.Ala21344=)
c.63891T>C (p.Ala21297=)
c.89934T>C (p.Ala29978=)
c.85332T>C (p.Ala28444=)
c.85329T>C (p.Ala28443=)
c.82371T>C (p.Ala27457=)
c.63987T>C (p.Ala21329=)
c.85482T>C (p.Ala28494=)
c.85479T>C (p.Ala28493=)
c.84912T>C (p.Ala28304=)
c.82254T>C (p.Ala27418=)
c.82173T>C (p.Ala27391=)
c.63936T>C (p.Ala21312=)
c.53790T>C (p.Ala17930=)
 ClinVar
2g.178551859A>TCA430245419TTN,TTN-AS1c.83337T>A (p.Ala27779=)
c.64422T>A (p.Ala21474=)
c.64221T>A (p.Ala21407=)
c.63846T>A (p.Ala21282=)
c.91041T>A (p.Ala30347=)
c.86118T>A (p.Ala28706=)
n.447-19441A>T
n.2043+9498A>T
c.90138T>A (p.Ala30046=)
c.64032T>A (p.Ala21344=)
c.63891T>A (p.Ala21297=)
c.89934T>A (p.Ala29978=)
c.85332T>A (p.Ala28444=)
c.85329T>A (p.Ala28443=)
c.82371T>A (p.Ala27457=)
c.63987T>A (p.Ala21329=)
c.85482T>A (p.Ala28494=)
c.85479T>A (p.Ala28493=)
c.84912T>A (p.Ala28304=)
c.82254T>A (p.Ala27418=)
c.82173T>A (p.Ala27391=)
c.63936T>A (p.Ala21312=)
c.53790T>A (p.Ala17930=)

Number of alleles fetched