Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178584858A>CCA349436867TTN,TTN-AS1c.57079T>G (p.Tyr19027Asp)
c.38164T>G (p.Tyr12722Asp)
c.37963T>G (p.Tyr12655Asp)
c.37588T>G (p.Tyr12530Asp)
c.64783T>G (p.Tyr21595Asp)
c.59860T>G (p.Tyr19954Asp)
n.597-12738A>C
n.3053A>C
c.63880T>G (p.Tyr21294Asp)
c.37774T>G (p.Tyr12592Asp)
c.37633T>G (p.Tyr12545Asp)
c.63676T>G (p.Tyr21226Asp)
c.59074T>G (p.Tyr19692Asp)
c.59071T>G (p.Tyr19691Asp)
c.56113T>G (p.Tyr18705Asp)
c.37729T>G (p.Tyr12577Asp)
c.59224T>G (p.Tyr19742Asp)
c.59221T>G (p.Tyr19741Asp)
c.58654T>G (p.Tyr19552Asp)
c.55996T>G (p.Tyr18666Asp)
c.55915T>G (p.Tyr18639Asp)
c.37678T>G (p.Tyr12560Asp)
c.27532T>G (p.Tyr9178Asp)
2g.178584858A>GCA349436869TTN,TTN-AS1c.57079T>C (p.Tyr19027His)
c.38164T>C (p.Tyr12722His)
c.37963T>C (p.Tyr12655His)
c.37588T>C (p.Tyr12530His)
c.64783T>C (p.Tyr21595His)
c.59860T>C (p.Tyr19954His)
n.597-12738A>G
n.3053A>G
c.63880T>C (p.Tyr21294His)
c.37774T>C (p.Tyr12592His)
c.37633T>C (p.Tyr12545His)
c.63676T>C (p.Tyr21226His)
c.59074T>C (p.Tyr19692His)
c.59071T>C (p.Tyr19691His)
c.56113T>C (p.Tyr18705His)
c.37729T>C (p.Tyr12577His)
c.59224T>C (p.Tyr19742His)
c.59221T>C (p.Tyr19741His)
c.58654T>C (p.Tyr19552His)
c.55996T>C (p.Tyr18666His)
c.55915T>C (p.Tyr18639His)
c.37678T>C (p.Tyr12560His)
c.27532T>C (p.Tyr9178His)
2g.178584858A>TCA349436871TTN,TTN-AS1c.57079T>A (p.Tyr19027Asn)
c.38164T>A (p.Tyr12722Asn)
c.37963T>A (p.Tyr12655Asn)
c.37588T>A (p.Tyr12530Asn)
c.64783T>A (p.Tyr21595Asn)
c.59860T>A (p.Tyr19954Asn)
n.597-12738A>T
n.3053A>T
c.63880T>A (p.Tyr21294Asn)
c.37774T>A (p.Tyr12592Asn)
c.37633T>A (p.Tyr12545Asn)
c.63676T>A (p.Tyr21226Asn)
c.59074T>A (p.Tyr19692Asn)
c.59071T>A (p.Tyr19691Asn)
c.56113T>A (p.Tyr18705Asn)
c.37729T>A (p.Tyr12577Asn)
c.59224T>A (p.Tyr19742Asn)
c.59221T>A (p.Tyr19741Asn)
c.58654T>A (p.Tyr19552Asn)
c.55996T>A (p.Tyr18666Asn)
c.55915T>A (p.Tyr18639Asn)
c.37678T>A (p.Tyr12560Asn)
c.27532T>A (p.Tyr9178Asn)
2g.178584859A>CCA349436873TTN,TTN-AS1c.57078T>G (p.Asn19026Lys)
c.38163T>G (p.Asn12721Lys)
c.37962T>G (p.Asn12654Lys)
c.37587T>G (p.Asn12529Lys)
c.64782T>G (p.Asn21594Lys)
c.59859T>G (p.Asn19953Lys)
n.597-12737A>C
n.3054A>C
c.63879T>G (p.Asn21293Lys)
c.37773T>G (p.Asn12591Lys)
c.37632T>G (p.Asn12544Lys)
c.63675T>G (p.Asn21225Lys)
c.59073T>G (p.Asn19691Lys)
c.59070T>G (p.Asn19690Lys)
c.56112T>G (p.Asn18704Lys)
c.37728T>G (p.Asn12576Lys)
c.59223T>G (p.Asn19741Lys)
c.59220T>G (p.Asn19740Lys)
c.58653T>G (p.Asn19551Lys)
c.55995T>G (p.Asn18665Lys)
c.55914T>G (p.Asn18638Lys)
c.37677T>G (p.Asn12559Lys)
c.27531T>G (p.Asn9177Lys)
2g.178584859A>GCA430264181TTN,TTN-AS1c.57078T>C (p.Asn19026=)
c.38163T>C (p.Asn12721=)
c.37962T>C (p.Asn12654=)
c.37587T>C (p.Asn12529=)
c.64782T>C (p.Asn21594=)
c.59859T>C (p.Asn19953=)
n.597-12737A>G
n.3054A>G
c.63879T>C (p.Asn21293=)
c.37773T>C (p.Asn12591=)
c.37632T>C (p.Asn12544=)
c.63675T>C (p.Asn21225=)
c.59073T>C (p.Asn19691=)
c.59070T>C (p.Asn19690=)
c.56112T>C (p.Asn18704=)
c.37728T>C (p.Asn12576=)
c.59223T>C (p.Asn19741=)
c.59220T>C (p.Asn19740=)
c.58653T>C (p.Asn19551=)
c.55995T>C (p.Asn18665=)
c.55914T>C (p.Asn18638=)
c.37677T>C (p.Asn12559=)
c.27531T>C (p.Asn9177=)
2g.178584859A>TCA349436875TTN,TTN-AS1c.57078T>A (p.Asn19026Lys)
c.38163T>A (p.Asn12721Lys)
c.37962T>A (p.Asn12654Lys)
c.37587T>A (p.Asn12529Lys)
c.64782T>A (p.Asn21594Lys)
c.59859T>A (p.Asn19953Lys)
n.597-12737A>T
n.3054A>T
c.63879T>A (p.Asn21293Lys)
c.37773T>A (p.Asn12591Lys)
c.37632T>A (p.Asn12544Lys)
c.63675T>A (p.Asn21225Lys)
c.59073T>A (p.Asn19691Lys)
c.59070T>A (p.Asn19690Lys)
c.56112T>A (p.Asn18704Lys)
c.37728T>A (p.Asn12576Lys)
c.59223T>A (p.Asn19741Lys)
c.59220T>A (p.Asn19740Lys)
c.58653T>A (p.Asn19551Lys)
c.55995T>A (p.Asn18665Lys)
c.55914T>A (p.Asn18638Lys)
c.37677T>A (p.Asn12559Lys)
c.27531T>A (p.Asn9177Lys)
 gnomAD v4
2g.178584860T>ACA349436877TTN,TTN-AS1c.57077A>T (p.Asn19026Ile)
c.38162A>T (p.Asn12721Ile)
c.37961A>T (p.Asn12654Ile)
c.37586A>T (p.Asn12529Ile)
c.64781A>T (p.Asn21594Ile)
c.59858A>T (p.Asn19953Ile)
n.597-12736T>A
n.3055T>A
c.63878A>T (p.Asn21293Ile)
c.37772A>T (p.Asn12591Ile)
c.37631A>T (p.Asn12544Ile)
c.63674A>T (p.Asn21225Ile)
c.59072A>T (p.Asn19691Ile)
c.59069A>T (p.Asn19690Ile)
c.56111A>T (p.Asn18704Ile)
c.37727A>T (p.Asn12576Ile)
c.59222A>T (p.Asn19741Ile)
c.59219A>T (p.Asn19740Ile)
c.58652A>T (p.Asn19551Ile)
c.55994A>T (p.Asn18665Ile)
c.55913A>T (p.Asn18638Ile)
c.37676A>T (p.Asn12559Ile)
c.27530A>T (p.Asn9177Ile)
2g.178584860T>CCA349436880TTN,TTN-AS1c.57077A>G (p.Asn19026Ser)
c.38162A>G (p.Asn12721Ser)
c.37961A>G (p.Asn12654Ser)
c.37586A>G (p.Asn12529Ser)
c.64781A>G (p.Asn21594Ser)
c.59858A>G (p.Asn19953Ser)
n.597-12736T>C
n.3055T>C
c.63878A>G (p.Asn21293Ser)
c.37772A>G (p.Asn12591Ser)
c.37631A>G (p.Asn12544Ser)
c.63674A>G (p.Asn21225Ser)
c.59072A>G (p.Asn19691Ser)
c.59069A>G (p.Asn19690Ser)
c.56111A>G (p.Asn18704Ser)
c.37727A>G (p.Asn12576Ser)
c.59222A>G (p.Asn19741Ser)
c.59219A>G (p.Asn19740Ser)
c.58652A>G (p.Asn19551Ser)
c.55994A>G (p.Asn18665Ser)
c.55913A>G (p.Asn18638Ser)
c.37676A>G (p.Asn12559Ser)
c.27530A>G (p.Asn9177Ser)
2g.178584860T>GCA16610358TTN,TTN-AS1c.57077A>C (p.Asn19026Thr)
c.38162A>C (p.Asn12721Thr)
c.37961A>C (p.Asn12654Thr)
c.37586A>C (p.Asn12529Thr)
c.64781A>C (p.Asn21594Thr)
c.59858A>C (p.Asn19953Thr)
n.597-12736T>G
n.3055T>G
c.63878A>C (p.Asn21293Thr)
c.37772A>C (p.Asn12591Thr)
c.37631A>C (p.Asn12544Thr)
c.63674A>C (p.Asn21225Thr)
c.59072A>C (p.Asn19691Thr)
c.59069A>C (p.Asn19690Thr)
c.56111A>C (p.Asn18704Thr)
c.37727A>C (p.Asn12576Thr)
c.59222A>C (p.Asn19741Thr)
c.59219A>C (p.Asn19740Thr)
c.58652A>C (p.Asn19551Thr)
c.55994A>C (p.Asn18665Thr)
c.55913A>C (p.Asn18638Thr)
c.37676A>C (p.Asn12559Thr)
c.27530A>C (p.Asn9177Thr)
 ClinVar dbSNP
2g.178584860T=CA1310537190TTN,TTN-AS1c.57077A= (p.Asn19026=)
c.38162A= (p.Asn12721=)
c.37961A= (p.Asn12654=)
c.37586A= (p.Asn12529=)
c.64781A= (p.Asn21594=)
c.59858A= (p.Asn19953=)
n.597-12736T=
n.3055T=
c.63878A= (p.Asn21293=)
c.37772A= (p.Asn12591=)
c.37631A= (p.Asn12544=)
c.63674A= (p.Asn21225=)
c.59072A= (p.Asn19691=)
c.59069A= (p.Asn19690=)
c.56111A= (p.Asn18704=)
c.37727A= (p.Asn12576=)
c.59222A= (p.Asn19741=)
c.59219A= (p.Asn19740=)
c.58652A= (p.Asn19551=)
c.55994A= (p.Asn18665=)
c.55913A= (p.Asn18638=)
c.37676A= (p.Asn12559=)
c.27530A= (p.Asn9177=)
2g.178584861T>ACA349436887TTN,TTN-AS1c.57076A>T (p.Asn19026Tyr)
c.38161A>T (p.Asn12721Tyr)
c.37960A>T (p.Asn12654Tyr)
c.37585A>T (p.Asn12529Tyr)
c.64780A>T (p.Asn21594Tyr)
c.59857A>T (p.Asn19953Tyr)
n.597-12735T>A
n.3056T>A
c.63877A>T (p.Asn21293Tyr)
c.37771A>T (p.Asn12591Tyr)
c.37630A>T (p.Asn12544Tyr)
c.63673A>T (p.Asn21225Tyr)
c.59071A>T (p.Asn19691Tyr)
c.59068A>T (p.Asn19690Tyr)
c.56110A>T (p.Asn18704Tyr)
c.37726A>T (p.Asn12576Tyr)
c.59221A>T (p.Asn19741Tyr)
c.59218A>T (p.Asn19740Tyr)
c.58651A>T (p.Asn19551Tyr)
c.55993A>T (p.Asn18665Tyr)
c.55912A>T (p.Asn18638Tyr)
c.37675A>T (p.Asn12559Tyr)
c.27529A>T (p.Asn9177Tyr)
2g.178584861T>CCA349436883TTN,TTN-AS1c.57076A>G (p.Asn19026Asp)
c.38161A>G (p.Asn12721Asp)
c.37960A>G (p.Asn12654Asp)
c.37585A>G (p.Asn12529Asp)
c.64780A>G (p.Asn21594Asp)
c.59857A>G (p.Asn19953Asp)
n.597-12735T>C
n.3056T>C
c.63877A>G (p.Asn21293Asp)
c.37771A>G (p.Asn12591Asp)
c.37630A>G (p.Asn12544Asp)
c.63673A>G (p.Asn21225Asp)
c.59071A>G (p.Asn19691Asp)
c.59068A>G (p.Asn19690Asp)
c.56110A>G (p.Asn18704Asp)
c.37726A>G (p.Asn12576Asp)
c.59221A>G (p.Asn19741Asp)
c.59218A>G (p.Asn19740Asp)
c.58651A>G (p.Asn19551Asp)
c.55993A>G (p.Asn18665Asp)
c.55912A>G (p.Asn18638Asp)
c.37675A>G (p.Asn12559Asp)
c.27529A>G (p.Asn9177Asp)
2g.178584861T>GCA349436886TTN,TTN-AS1c.57076A>C (p.Asn19026His)
c.38161A>C (p.Asn12721His)
c.37960A>C (p.Asn12654His)
c.37585A>C (p.Asn12529His)
c.64780A>C (p.Asn21594His)
c.59857A>C (p.Asn19953His)
n.597-12735T>G
n.3056T>G
c.63877A>C (p.Asn21293His)
c.37771A>C (p.Asn12591His)
c.37630A>C (p.Asn12544His)
c.63673A>C (p.Asn21225His)
c.59071A>C (p.Asn19691His)
c.59068A>C (p.Asn19690His)
c.56110A>C (p.Asn18704His)
c.37726A>C (p.Asn12576His)
c.59221A>C (p.Asn19741His)
c.59218A>C (p.Asn19740His)
c.58651A>C (p.Asn19551His)
c.55993A>C (p.Asn18665His)
c.55912A>C (p.Asn18638His)
c.37675A>C (p.Asn12559His)
c.27529A>C (p.Asn9177His)
2g.178584862G>ACA430264182TTN,TTN-AS1c.57075C>T (p.Thr19025=)
c.38160C>T (p.Thr12720=)
c.37959C>T (p.Thr12653=)
c.37584C>T (p.Thr12528=)
c.64779C>T (p.Thr21593=)
c.59856C>T (p.Thr19952=)
n.597-12734G>A
n.3057G>A
c.63876C>T (p.Thr21292=)
c.37770C>T (p.Thr12590=)
c.37629C>T (p.Thr12543=)
c.63672C>T (p.Thr21224=)
c.59070C>T (p.Thr19690=)
c.59067C>T (p.Thr19689=)
c.56109C>T (p.Thr18703=)
c.37725C>T (p.Thr12575=)
c.59220C>T (p.Thr19740=)
c.59217C>T (p.Thr19739=)
c.58650C>T (p.Thr19550=)
c.55992C>T (p.Thr18664=)
c.55911C>T (p.Thr18637=)
c.37674C>T (p.Thr12558=)
c.27528C>T (p.Thr9176=)
2g.178584862G>CCA430264183TTN,TTN-AS1c.57075C>G (p.Thr19025=)
c.38160C>G (p.Thr12720=)
c.37959C>G (p.Thr12653=)
c.37584C>G (p.Thr12528=)
c.64779C>G (p.Thr21593=)
c.59856C>G (p.Thr19952=)
n.597-12734G>C
n.3057G>C
c.63876C>G (p.Thr21292=)
c.37770C>G (p.Thr12590=)
c.37629C>G (p.Thr12543=)
c.63672C>G (p.Thr21224=)
c.59070C>G (p.Thr19690=)
c.59067C>G (p.Thr19689=)
c.56109C>G (p.Thr18703=)
c.37725C>G (p.Thr12575=)
c.59220C>G (p.Thr19740=)
c.59217C>G (p.Thr19739=)
c.58650C>G (p.Thr19550=)
c.55992C>G (p.Thr18664=)
c.55911C>G (p.Thr18637=)
c.37674C>G (p.Thr12558=)
c.27528C>G (p.Thr9176=)
2g.178584862G>TCA430264184TTN,TTN-AS1c.57075C>A (p.Thr19025=)
c.38160C>A (p.Thr12720=)
c.37959C>A (p.Thr12653=)
c.37584C>A (p.Thr12528=)
c.64779C>A (p.Thr21593=)
c.59856C>A (p.Thr19952=)
n.597-12734G>T
n.3057G>T
c.63876C>A (p.Thr21292=)
c.37770C>A (p.Thr12590=)
c.37629C>A (p.Thr12543=)
c.63672C>A (p.Thr21224=)
c.59070C>A (p.Thr19690=)
c.59067C>A (p.Thr19689=)
c.56109C>A (p.Thr18703=)
c.37725C>A (p.Thr12575=)
c.59220C>A (p.Thr19740=)
c.59217C>A (p.Thr19739=)
c.58650C>A (p.Thr19550=)
c.55992C>A (p.Thr18664=)
c.55911C>A (p.Thr18637=)
c.37674C>A (p.Thr12558=)
c.27528C>A (p.Thr9176=)
2g.178584863G>ACA349436891TTN,TTN-AS1c.57074C>T (p.Thr19025Ile)
c.38159C>T (p.Thr12720Ile)
c.37958C>T (p.Thr12653Ile)
c.37583C>T (p.Thr12528Ile)
c.64778C>T (p.Thr21593Ile)
c.59855C>T (p.Thr19952Ile)
n.597-12733G>A
n.3058G>A
c.63875C>T (p.Thr21292Ile)
c.37769C>T (p.Thr12590Ile)
c.37628C>T (p.Thr12543Ile)
c.63671C>T (p.Thr21224Ile)
c.59069C>T (p.Thr19690Ile)
c.59066C>T (p.Thr19689Ile)
c.56108C>T (p.Thr18703Ile)
c.37724C>T (p.Thr12575Ile)
c.59219C>T (p.Thr19740Ile)
c.59216C>T (p.Thr19739Ile)
c.58649C>T (p.Thr19550Ile)
c.55991C>T (p.Thr18664Ile)
c.55910C>T (p.Thr18637Ile)
c.37673C>T (p.Thr12558Ile)
c.27527C>T (p.Thr9176Ile)
 gnomAD v4
2g.178584863G>CCA349436892TTN,TTN-AS1c.57074C>G (p.Thr19025Ser)
c.38159C>G (p.Thr12720Ser)
c.37958C>G (p.Thr12653Ser)
c.37583C>G (p.Thr12528Ser)
c.64778C>G (p.Thr21593Ser)
c.59855C>G (p.Thr19952Ser)
n.597-12733G>C
n.3058G>C
c.63875C>G (p.Thr21292Ser)
c.37769C>G (p.Thr12590Ser)
c.37628C>G (p.Thr12543Ser)
c.63671C>G (p.Thr21224Ser)
c.59069C>G (p.Thr19690Ser)
c.59066C>G (p.Thr19689Ser)
c.56108C>G (p.Thr18703Ser)
c.37724C>G (p.Thr12575Ser)
c.59219C>G (p.Thr19740Ser)
c.59216C>G (p.Thr19739Ser)
c.58649C>G (p.Thr19550Ser)
c.55991C>G (p.Thr18664Ser)
c.55910C>G (p.Thr18637Ser)
c.37673C>G (p.Thr12558Ser)
c.27527C>G (p.Thr9176Ser)
2g.178584863G>TCA349436894TTN,TTN-AS1c.57074C>A (p.Thr19025Asn)
c.38159C>A (p.Thr12720Asn)
c.37958C>A (p.Thr12653Asn)
c.37583C>A (p.Thr12528Asn)
c.64778C>A (p.Thr21593Asn)
c.59855C>A (p.Thr19952Asn)
n.597-12733G>T
n.3058G>T
c.63875C>A (p.Thr21292Asn)
c.37769C>A (p.Thr12590Asn)
c.37628C>A (p.Thr12543Asn)
c.63671C>A (p.Thr21224Asn)
c.59069C>A (p.Thr19690Asn)
c.59066C>A (p.Thr19689Asn)
c.56108C>A (p.Thr18703Asn)
c.37724C>A (p.Thr12575Asn)
c.59219C>A (p.Thr19740Asn)
c.59216C>A (p.Thr19739Asn)
c.58649C>A (p.Thr19550Asn)
c.55991C>A (p.Thr18664Asn)
c.55910C>A (p.Thr18637Asn)
c.37673C>A (p.Thr12558Asn)
c.27527C>A (p.Thr9176Asn)
2g.178584864T>ACA349436897TTN,TTN-AS1c.57073A>T (p.Thr19025Ser)
c.38158A>T (p.Thr12720Ser)
c.37957A>T (p.Thr12653Ser)
c.37582A>T (p.Thr12528Ser)
c.64777A>T (p.Thr21593Ser)
c.59854A>T (p.Thr19952Ser)
n.597-12732T>A
n.3059T>A
c.63874A>T (p.Thr21292Ser)
c.37768A>T (p.Thr12590Ser)
c.37627A>T (p.Thr12543Ser)
c.63670A>T (p.Thr21224Ser)
c.59068A>T (p.Thr19690Ser)
c.59065A>T (p.Thr19689Ser)
c.56107A>T (p.Thr18703Ser)
c.37723A>T (p.Thr12575Ser)
c.59218A>T (p.Thr19740Ser)
c.59215A>T (p.Thr19739Ser)
c.58648A>T (p.Thr19550Ser)
c.55990A>T (p.Thr18664Ser)
c.55909A>T (p.Thr18637Ser)
c.37672A>T (p.Thr12558Ser)
c.27526A>T (p.Thr9176Ser)
2g.178584864T>CCA349436898TTN,TTN-AS1c.57073A>G (p.Thr19025Ala)
c.38158A>G (p.Thr12720Ala)
c.37957A>G (p.Thr12653Ala)
c.37582A>G (p.Thr12528Ala)
c.64777A>G (p.Thr21593Ala)
c.59854A>G (p.Thr19952Ala)
n.597-12732T>C
n.3059T>C
c.63874A>G (p.Thr21292Ala)
c.37768A>G (p.Thr12590Ala)
c.37627A>G (p.Thr12543Ala)
c.63670A>G (p.Thr21224Ala)
c.59068A>G (p.Thr19690Ala)
c.59065A>G (p.Thr19689Ala)
c.56107A>G (p.Thr18703Ala)
c.37723A>G (p.Thr12575Ala)
c.59218A>G (p.Thr19740Ala)
c.59215A>G (p.Thr19739Ala)
c.58648A>G (p.Thr19550Ala)
c.55990A>G (p.Thr18664Ala)
c.55909A>G (p.Thr18637Ala)
c.37672A>G (p.Thr12558Ala)
c.27526A>G (p.Thr9176Ala)
2g.178584864T>GCA1991839TTN,TTN-AS1c.57073A>C (p.Thr19025Pro)
c.38158A>C (p.Thr12720Pro)
c.37957A>C (p.Thr12653Pro)
c.37582A>C (p.Thr12528Pro)
c.64777A>C (p.Thr21593Pro)
c.59854A>C (p.Thr19952Pro)
n.597-12732T>G
n.3059T>G
c.63874A>C (p.Thr21292Pro)
c.37768A>C (p.Thr12590Pro)
c.37627A>C (p.Thr12543Pro)
c.63670A>C (p.Thr21224Pro)
c.59068A>C (p.Thr19690Pro)
c.59065A>C (p.Thr19689Pro)
c.56107A>C (p.Thr18703Pro)
c.37723A>C (p.Thr12575Pro)
c.59218A>C (p.Thr19740Pro)
c.59215A>C (p.Thr19739Pro)
c.58648A>C (p.Thr19550Pro)
c.55990A>C (p.Thr18664Pro)
c.55909A>C (p.Thr18637Pro)
c.37672A>C (p.Thr12558Pro)
c.27526A>C (p.Thr9176Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178584864T=CA1310537191TTN,TTN-AS1c.57073A= (p.Thr19025=)
c.38158A= (p.Thr12720=)
c.37957A= (p.Thr12653=)
c.37582A= (p.Thr12528=)
c.64777A= (p.Thr21593=)
c.59854A= (p.Thr19952=)
n.597-12732T=
n.3059T=
c.63874A= (p.Thr21292=)
c.37768A= (p.Thr12590=)
c.37627A= (p.Thr12543=)
c.63670A= (p.Thr21224=)
c.59068A= (p.Thr19690=)
c.59065A= (p.Thr19689=)
c.56107A= (p.Thr18703=)
c.37723A= (p.Thr12575=)
c.59218A= (p.Thr19740=)
c.59215A= (p.Thr19739=)
c.58648A= (p.Thr19550=)
c.55990A= (p.Thr18664=)
c.55909A= (p.Thr18637=)
c.37672A= (p.Thr12558=)
c.27526A= (p.Thr9176=)
2g.178584865G>ACA430264188TTN,TTN-AS1c.57072C>T (p.Ile19024=)
c.38157C>T (p.Ile12719=)
c.37956C>T (p.Ile12652=)
c.37581C>T (p.Ile12527=)
c.64776C>T (p.Ile21592=)
c.59853C>T (p.Ile19951=)
n.597-12731G>A
n.3060G>A
c.63873C>T (p.Ile21291=)
c.37767C>T (p.Ile12589=)
c.37626C>T (p.Ile12542=)
c.63669C>T (p.Ile21223=)
c.59067C>T (p.Ile19689=)
c.59064C>T (p.Ile19688=)
c.56106C>T (p.Ile18702=)
c.37722C>T (p.Ile12574=)
c.59217C>T (p.Ile19739=)
c.59214C>T (p.Ile19738=)
c.58647C>T (p.Ile19549=)
c.55989C>T (p.Ile18663=)
c.55908C>T (p.Ile18636=)
c.37671C>T (p.Ile12557=)
c.27525C>T (p.Ile9175=)
 COSMIC COSMIC COSMIC COSMIC
2g.178584865G>CCA349436902TTN,TTN-AS1c.57072C>G (p.Ile19024Met)
c.38157C>G (p.Ile12719Met)
c.37956C>G (p.Ile12652Met)
c.37581C>G (p.Ile12527Met)
c.64776C>G (p.Ile21592Met)
c.59853C>G (p.Ile19951Met)
n.597-12731G>C
n.3060G>C
c.63873C>G (p.Ile21291Met)
c.37767C>G (p.Ile12589Met)
c.37626C>G (p.Ile12542Met)
c.63669C>G (p.Ile21223Met)
c.59067C>G (p.Ile19689Met)
c.59064C>G (p.Ile19688Met)
c.56106C>G (p.Ile18702Met)
c.37722C>G (p.Ile12574Met)
c.59217C>G (p.Ile19739Met)
c.59214C>G (p.Ile19738Met)
c.58647C>G (p.Ile19549Met)
c.55989C>G (p.Ile18663Met)
c.55908C>G (p.Ile18636Met)
c.37671C>G (p.Ile12557Met)
c.27525C>G (p.Ile9175Met)
2g.178584865G>TCA430264187TTN,TTN-AS1c.57072C>A (p.Ile19024=)
c.38157C>A (p.Ile12719=)
c.37956C>A (p.Ile12652=)
c.37581C>A (p.Ile12527=)
c.64776C>A (p.Ile21592=)
c.59853C>A (p.Ile19951=)
n.597-12731G>T
n.3060G>T
c.63873C>A (p.Ile21291=)
c.37767C>A (p.Ile12589=)
c.37626C>A (p.Ile12542=)
c.63669C>A (p.Ile21223=)
c.59067C>A (p.Ile19689=)
c.59064C>A (p.Ile19688=)
c.56106C>A (p.Ile18702=)
c.37722C>A (p.Ile12574=)
c.59217C>A (p.Ile19739=)
c.59214C>A (p.Ile19738=)
c.58647C>A (p.Ile19549=)
c.55989C>A (p.Ile18663=)
c.55908C>A (p.Ile18636=)
c.37671C>A (p.Ile12557=)
c.27525C>A (p.Ile9175=)
2g.178584866A>CCA349436905TTN,TTN-AS1c.57071T>G (p.Ile19024Ser)
c.38156T>G (p.Ile12719Ser)
c.37955T>G (p.Ile12652Ser)
c.37580T>G (p.Ile12527Ser)
c.64775T>G (p.Ile21592Ser)
c.59852T>G (p.Ile19951Ser)
n.597-12730A>C
n.3061A>C
c.63872T>G (p.Ile21291Ser)
c.37766T>G (p.Ile12589Ser)
c.37625T>G (p.Ile12542Ser)
c.63668T>G (p.Ile21223Ser)
c.59066T>G (p.Ile19689Ser)
c.59063T>G (p.Ile19688Ser)
c.56105T>G (p.Ile18702Ser)
c.37721T>G (p.Ile12574Ser)
c.59216T>G (p.Ile19739Ser)
c.59213T>G (p.Ile19738Ser)
c.58646T>G (p.Ile19549Ser)
c.55988T>G (p.Ile18663Ser)
c.55907T>G (p.Ile18636Ser)
c.37670T>G (p.Ile12557Ser)
c.27524T>G (p.Ile9175Ser)
2g.178584866A>GCA349436907TTN,TTN-AS1c.57071T>C (p.Ile19024Thr)
c.38156T>C (p.Ile12719Thr)
c.37955T>C (p.Ile12652Thr)
c.37580T>C (p.Ile12527Thr)
c.64775T>C (p.Ile21592Thr)
c.59852T>C (p.Ile19951Thr)
n.597-12730A>G
n.3061A>G
c.63872T>C (p.Ile21291Thr)
c.37766T>C (p.Ile12589Thr)
c.37625T>C (p.Ile12542Thr)
c.63668T>C (p.Ile21223Thr)
c.59066T>C (p.Ile19689Thr)
c.59063T>C (p.Ile19688Thr)
c.56105T>C (p.Ile18702Thr)
c.37721T>C (p.Ile12574Thr)
c.59216T>C (p.Ile19739Thr)
c.59213T>C (p.Ile19738Thr)
c.58646T>C (p.Ile19549Thr)
c.55988T>C (p.Ile18663Thr)
c.55907T>C (p.Ile18636Thr)
c.37670T>C (p.Ile12557Thr)
c.27524T>C (p.Ile9175Thr)
2g.178584866A>TCA349436909TTN,TTN-AS1c.57071T>A (p.Ile19024Asn)
c.38156T>A (p.Ile12719Asn)
c.37955T>A (p.Ile12652Asn)
c.37580T>A (p.Ile12527Asn)
c.64775T>A (p.Ile21592Asn)
c.59852T>A (p.Ile19951Asn)
n.597-12730A>T
n.3061A>T
c.63872T>A (p.Ile21291Asn)
c.37766T>A (p.Ile12589Asn)
c.37625T>A (p.Ile12542Asn)
c.63668T>A (p.Ile21223Asn)
c.59066T>A (p.Ile19689Asn)
c.59063T>A (p.Ile19688Asn)
c.56105T>A (p.Ile18702Asn)
c.37721T>A (p.Ile12574Asn)
c.59216T>A (p.Ile19739Asn)
c.59213T>A (p.Ile19738Asn)
c.58646T>A (p.Ile19549Asn)
c.55988T>A (p.Ile18663Asn)
c.55907T>A (p.Ile18636Asn)
c.37670T>A (p.Ile12557Asn)
c.27524T>A (p.Ile9175Asn)
 gnomAD v4
2g.178584867T>ACA349436912TTN,TTN-AS1c.57070A>T (p.Ile19024Phe)
c.38155A>T (p.Ile12719Phe)
c.37954A>T (p.Ile12652Phe)
c.37579A>T (p.Ile12527Phe)
c.64774A>T (p.Ile21592Phe)
c.59851A>T (p.Ile19951Phe)
n.597-12729T>A
n.3062T>A
c.63871A>T (p.Ile21291Phe)
c.37765A>T (p.Ile12589Phe)
c.37624A>T (p.Ile12542Phe)
c.63667A>T (p.Ile21223Phe)
c.59065A>T (p.Ile19689Phe)
c.59062A>T (p.Ile19688Phe)
c.56104A>T (p.Ile18702Phe)
c.37720A>T (p.Ile12574Phe)
c.59215A>T (p.Ile19739Phe)
c.59212A>T (p.Ile19738Phe)
c.58645A>T (p.Ile19549Phe)
c.55987A>T (p.Ile18663Phe)
c.55906A>T (p.Ile18636Phe)
c.37669A>T (p.Ile12557Phe)
c.27523A>T (p.Ile9175Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178584867T>CCA178611TTN,TTN-AS1c.57070A>G (p.Ile19024Val)
c.38155A>G (p.Ile12719Val)
c.37954A>G (p.Ile12652Val)
c.37579A>G (p.Ile12527Val)
c.64774A>G (p.Ile21592Val)
c.59851A>G (p.Ile19951Val)
n.597-12729T>C
n.3062T>C
c.63871A>G (p.Ile21291Val)
c.37765A>G (p.Ile12589Val)
c.37624A>G (p.Ile12542Val)
c.63667A>G (p.Ile21223Val)
c.59065A>G (p.Ile19689Val)
c.59062A>G (p.Ile19688Val)
c.56104A>G (p.Ile18702Val)
c.37720A>G (p.Ile12574Val)
c.59215A>G (p.Ile19739Val)
c.59212A>G (p.Ile19738Val)
c.58645A>G (p.Ile19549Val)
c.55987A>G (p.Ile18663Val)
c.55906A>G (p.Ile18636Val)
c.37669A>G (p.Ile12557Val)
c.27523A>G (p.Ile9175Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178584867T>GCA349436915TTN,TTN-AS1c.57070A>C (p.Ile19024Leu)
c.38155A>C (p.Ile12719Leu)
c.37954A>C (p.Ile12652Leu)
c.37579A>C (p.Ile12527Leu)
c.64774A>C (p.Ile21592Leu)
c.59851A>C (p.Ile19951Leu)
n.597-12729T>G
n.3062T>G
c.63871A>C (p.Ile21291Leu)
c.37765A>C (p.Ile12589Leu)
c.37624A>C (p.Ile12542Leu)
c.63667A>C (p.Ile21223Leu)
c.59065A>C (p.Ile19689Leu)
c.59062A>C (p.Ile19688Leu)
c.56104A>C (p.Ile18702Leu)
c.37720A>C (p.Ile12574Leu)
c.59215A>C (p.Ile19739Leu)
c.59212A>C (p.Ile19738Leu)
c.58645A>C (p.Ile19549Leu)
c.55987A>C (p.Ile18663Leu)
c.55906A>C (p.Ile18636Leu)
c.37669A>C (p.Ile12557Leu)
c.27523A>C (p.Ile9175Leu)
2g.178584867T=CA1310537192TTN,TTN-AS1c.57070A= (p.Ile19024=)
c.38155A= (p.Ile12719=)
c.37954A= (p.Ile12652=)
c.37579A= (p.Ile12527=)
c.64774A= (p.Ile21592=)
c.59851A= (p.Ile19951=)
n.597-12729T=
n.3062T=
c.63871A= (p.Ile21291=)
c.37765A= (p.Ile12589=)
c.37624A= (p.Ile12542=)
c.63667A= (p.Ile21223=)
c.59065A= (p.Ile19689=)
c.59062A= (p.Ile19688=)
c.56104A= (p.Ile18702=)
c.37720A= (p.Ile12574=)
c.59215A= (p.Ile19739=)
c.59212A= (p.Ile19738=)
c.58645A= (p.Ile19549=)
c.55987A= (p.Ile18663=)
c.55906A= (p.Ile18636=)
c.37669A= (p.Ile12557=)
c.27523A= (p.Ile9175=)
2g.178584868G>ACA1991840TTN,TTN-AS1c.57069C>T (p.Asn19023=)
c.38154C>T (p.Asn12718=)
c.37953C>T (p.Asn12651=)
c.37578C>T (p.Asn12526=)
c.64773C>T (p.Asn21591=)
c.59850C>T (p.Asn19950=)
n.597-12728G>A
n.3063G>A
c.63870C>T (p.Asn21290=)
c.37764C>T (p.Asn12588=)
c.37623C>T (p.Asn12541=)
c.63666C>T (p.Asn21222=)
c.59064C>T (p.Asn19688=)
c.59061C>T (p.Asn19687=)
c.56103C>T (p.Asn18701=)
c.37719C>T (p.Asn12573=)
c.59214C>T (p.Asn19738=)
c.59211C>T (p.Asn19737=)
c.58644C>T (p.Asn19548=)
c.55986C>T (p.Asn18662=)
c.55905C>T (p.Asn18635=)
c.37668C>T (p.Asn12556=)
c.27522C>T (p.Asn9174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178584868G>CCA349436920TTN,TTN-AS1c.57069C>G (p.Asn19023Lys)
c.38154C>G (p.Asn12718Lys)
c.37953C>G (p.Asn12651Lys)
c.37578C>G (p.Asn12526Lys)
c.64773C>G (p.Asn21591Lys)
c.59850C>G (p.Asn19950Lys)
n.597-12728G>C
n.3063G>C
c.63870C>G (p.Asn21290Lys)
c.37764C>G (p.Asn12588Lys)
c.37623C>G (p.Asn12541Lys)
c.63666C>G (p.Asn21222Lys)
c.59064C>G (p.Asn19688Lys)
c.59061C>G (p.Asn19687Lys)
c.56103C>G (p.Asn18701Lys)
c.37719C>G (p.Asn12573Lys)
c.59214C>G (p.Asn19738Lys)
c.59211C>G (p.Asn19737Lys)
c.58644C>G (p.Asn19548Lys)
c.55986C>G (p.Asn18662Lys)
c.55905C>G (p.Asn18635Lys)
c.37668C>G (p.Asn12556Lys)
c.27522C>G (p.Asn9174Lys)
2g.178584868G=CA1310537193TTN,TTN-AS1c.57069C= (p.Asn19023=)
c.38154C= (p.Asn12718=)
c.37953C= (p.Asn12651=)
c.37578C= (p.Asn12526=)
c.64773C= (p.Asn21591=)
c.59850C= (p.Asn19950=)
n.597-12728G=
n.3063G=
c.63870C= (p.Asn21290=)
c.37764C= (p.Asn12588=)
c.37623C= (p.Asn12541=)
c.63666C= (p.Asn21222=)
c.59064C= (p.Asn19688=)
c.59061C= (p.Asn19687=)
c.56103C= (p.Asn18701=)
c.37719C= (p.Asn12573=)
c.59214C= (p.Asn19738=)
c.59211C= (p.Asn19737=)
c.58644C= (p.Asn19548=)
c.55986C= (p.Asn18662=)
c.55905C= (p.Asn18635=)
c.37668C= (p.Asn12556=)
c.27522C= (p.Asn9174=)
2g.178584868G>TCA349436917TTN,TTN-AS1c.57069C>A (p.Asn19023Lys)
c.38154C>A (p.Asn12718Lys)
c.37953C>A (p.Asn12651Lys)
c.37578C>A (p.Asn12526Lys)
c.64773C>A (p.Asn21591Lys)
c.59850C>A (p.Asn19950Lys)
n.597-12728G>T
n.3063G>T
c.63870C>A (p.Asn21290Lys)
c.37764C>A (p.Asn12588Lys)
c.37623C>A (p.Asn12541Lys)
c.63666C>A (p.Asn21222Lys)
c.59064C>A (p.Asn19688Lys)
c.59061C>A (p.Asn19687Lys)
c.56103C>A (p.Asn18701Lys)
c.37719C>A (p.Asn12573Lys)
c.59214C>A (p.Asn19738Lys)
c.59211C>A (p.Asn19737Lys)
c.58644C>A (p.Asn19548Lys)
c.55986C>A (p.Asn18662Lys)
c.55905C>A (p.Asn18635Lys)
c.37668C>A (p.Asn12556Lys)
c.27522C>A (p.Asn9174Lys)
2g.178584869T>ACA349436925TTN,TTN-AS1c.57068A>T (p.Asn19023Ile)
c.38153A>T (p.Asn12718Ile)
c.37952A>T (p.Asn12651Ile)
c.37577A>T (p.Asn12526Ile)
c.64772A>T (p.Asn21591Ile)
c.59849A>T (p.Asn19950Ile)
n.597-12727T>A
n.3064T>A
c.63869A>T (p.Asn21290Ile)
c.37763A>T (p.Asn12588Ile)
c.37622A>T (p.Asn12541Ile)
c.63665A>T (p.Asn21222Ile)
c.59063A>T (p.Asn19688Ile)
c.59060A>T (p.Asn19687Ile)
c.56102A>T (p.Asn18701Ile)
c.37718A>T (p.Asn12573Ile)
c.59213A>T (p.Asn19738Ile)
c.59210A>T (p.Asn19737Ile)
c.58643A>T (p.Asn19548Ile)
c.55985A>T (p.Asn18662Ile)
c.55904A>T (p.Asn18635Ile)
c.37667A>T (p.Asn12556Ile)
c.27521A>T (p.Asn9174Ile)
 dbSNP
2g.178584869T>CCA349436926TTN,TTN-AS1c.57068A>G (p.Asn19023Ser)
c.38153A>G (p.Asn12718Ser)
c.37952A>G (p.Asn12651Ser)
c.37577A>G (p.Asn12526Ser)
c.64772A>G (p.Asn21591Ser)
c.59849A>G (p.Asn19950Ser)
n.597-12727T>C
n.3064T>C
c.63869A>G (p.Asn21290Ser)
c.37763A>G (p.Asn12588Ser)
c.37622A>G (p.Asn12541Ser)
c.63665A>G (p.Asn21222Ser)
c.59063A>G (p.Asn19688Ser)
c.59060A>G (p.Asn19687Ser)
c.56102A>G (p.Asn18701Ser)
c.37718A>G (p.Asn12573Ser)
c.59213A>G (p.Asn19738Ser)
c.59210A>G (p.Asn19737Ser)
c.58643A>G (p.Asn19548Ser)
c.55985A>G (p.Asn18662Ser)
c.55904A>G (p.Asn18635Ser)
c.37667A>G (p.Asn12556Ser)
c.27521A>G (p.Asn9174Ser)
2g.178584869T>GCA349436928TTN,TTN-AS1c.57068A>C (p.Asn19023Thr)
c.38153A>C (p.Asn12718Thr)
c.37952A>C (p.Asn12651Thr)
c.37577A>C (p.Asn12526Thr)
c.64772A>C (p.Asn21591Thr)
c.59849A>C (p.Asn19950Thr)
n.597-12727T>G
n.3064T>G
c.63869A>C (p.Asn21290Thr)
c.37763A>C (p.Asn12588Thr)
c.37622A>C (p.Asn12541Thr)
c.63665A>C (p.Asn21222Thr)
c.59063A>C (p.Asn19688Thr)
c.59060A>C (p.Asn19687Thr)
c.56102A>C (p.Asn18701Thr)
c.37718A>C (p.Asn12573Thr)
c.59213A>C (p.Asn19738Thr)
c.59210A>C (p.Asn19737Thr)
c.58643A>C (p.Asn19548Thr)
c.55985A>C (p.Asn18662Thr)
c.55904A>C (p.Asn18635Thr)
c.37667A>C (p.Asn12556Thr)
c.27521A>C (p.Asn9174Thr)
2g.178584869T=CA1310537194TTN,TTN-AS1c.57068A= (p.Asn19023=)
c.38153A= (p.Asn12718=)
c.37952A= (p.Asn12651=)
c.37577A= (p.Asn12526=)
c.64772A= (p.Asn21591=)
c.59849A= (p.Asn19950=)
n.597-12727T=
n.3064T=
c.63869A= (p.Asn21290=)
c.37763A= (p.Asn12588=)
c.37622A= (p.Asn12541=)
c.63665A= (p.Asn21222=)
c.59063A= (p.Asn19688=)
c.59060A= (p.Asn19687=)
c.56102A= (p.Asn18701=)
c.37718A= (p.Asn12573=)
c.59213A= (p.Asn19738=)
c.59210A= (p.Asn19737=)
c.58643A= (p.Asn19548=)
c.55985A= (p.Asn18662=)
c.55904A= (p.Asn18635=)
c.37667A= (p.Asn12556=)
c.27521A= (p.Asn9174=)
2g.178584870T>ACA349436931TTN,TTN-AS1c.57067A>T (p.Asn19023Tyr)
c.38152A>T (p.Asn12718Tyr)
c.37951A>T (p.Asn12651Tyr)
c.37576A>T (p.Asn12526Tyr)
c.64771A>T (p.Asn21591Tyr)
c.59848A>T (p.Asn19950Tyr)
n.597-12726T>A
n.3065T>A
c.63868A>T (p.Asn21290Tyr)
c.37762A>T (p.Asn12588Tyr)
c.37621A>T (p.Asn12541Tyr)
c.63664A>T (p.Asn21222Tyr)
c.59062A>T (p.Asn19688Tyr)
c.59059A>T (p.Asn19687Tyr)
c.56101A>T (p.Asn18701Tyr)
c.37717A>T (p.Asn12573Tyr)
c.59212A>T (p.Asn19738Tyr)
c.59209A>T (p.Asn19737Tyr)
c.58642A>T (p.Asn19548Tyr)
c.55984A>T (p.Asn18662Tyr)
c.55903A>T (p.Asn18635Tyr)
c.37666A>T (p.Asn12556Tyr)
c.27520A>T (p.Asn9174Tyr)
 gnomAD v4
2g.178584870T>CCA349436933TTN,TTN-AS1c.57067A>G (p.Asn19023Asp)
c.38152A>G (p.Asn12718Asp)
c.37951A>G (p.Asn12651Asp)
c.37576A>G (p.Asn12526Asp)
c.64771A>G (p.Asn21591Asp)
c.59848A>G (p.Asn19950Asp)
n.597-12726T>C
n.3065T>C
c.63868A>G (p.Asn21290Asp)
c.37762A>G (p.Asn12588Asp)
c.37621A>G (p.Asn12541Asp)
c.63664A>G (p.Asn21222Asp)
c.59062A>G (p.Asn19688Asp)
c.59059A>G (p.Asn19687Asp)
c.56101A>G (p.Asn18701Asp)
c.37717A>G (p.Asn12573Asp)
c.59212A>G (p.Asn19738Asp)
c.59209A>G (p.Asn19737Asp)
c.58642A>G (p.Asn19548Asp)
c.55984A>G (p.Asn18662Asp)
c.55903A>G (p.Asn18635Asp)
c.37666A>G (p.Asn12556Asp)
c.27520A>G (p.Asn9174Asp)
2g.178584870T>GCA349436935TTN,TTN-AS1c.57067A>C (p.Asn19023His)
c.38152A>C (p.Asn12718His)
c.37951A>C (p.Asn12651His)
c.37576A>C (p.Asn12526His)
c.64771A>C (p.Asn21591His)
c.59848A>C (p.Asn19950His)
n.597-12726T>G
n.3065T>G
c.63868A>C (p.Asn21290His)
c.37762A>C (p.Asn12588His)
c.37621A>C (p.Asn12541His)
c.63664A>C (p.Asn21222His)
c.59062A>C (p.Asn19688His)
c.59059A>C (p.Asn19687His)
c.56101A>C (p.Asn18701His)
c.37717A>C (p.Asn12573His)
c.59212A>C (p.Asn19738His)
c.59209A>C (p.Asn19737His)
c.58642A>C (p.Asn19548His)
c.55984A>C (p.Asn18662His)
c.55903A>C (p.Asn18635His)
c.37666A>C (p.Asn12556His)
c.27520A>C (p.Asn9174His)
2g.178584871A>CCA349436939TTN,TTN-AS1c.57066T>G (p.Ser19022Arg)
c.38151T>G (p.Ser12717Arg)
c.37950T>G (p.Ser12650Arg)
c.37575T>G (p.Ser12525Arg)
c.64770T>G (p.Ser21590Arg)
c.59847T>G (p.Ser19949Arg)
n.597-12725A>C
n.3066A>C
c.63867T>G (p.Ser21289Arg)
c.37761T>G (p.Ser12587Arg)
c.37620T>G (p.Ser12540Arg)
c.63663T>G (p.Ser21221Arg)
c.59061T>G (p.Ser19687Arg)
c.59058T>G (p.Ser19686Arg)
c.56100T>G (p.Ser18700Arg)
c.37716T>G (p.Ser12572Arg)
c.59211T>G (p.Ser19737Arg)
c.59208T>G (p.Ser19736Arg)
c.58641T>G (p.Ser19547Arg)
c.55983T>G (p.Ser18661Arg)
c.55902T>G (p.Ser18634Arg)
c.37665T>G (p.Ser12555Arg)
c.27519T>G (p.Ser9173Arg)
2g.178584871A>GCA430264197TTN,TTN-AS1c.57066T>C (p.Ser19022=)
c.38151T>C (p.Ser12717=)
c.37950T>C (p.Ser12650=)
c.37575T>C (p.Ser12525=)
c.64770T>C (p.Ser21590=)
c.59847T>C (p.Ser19949=)
n.597-12725A>G
n.3066A>G
c.63867T>C (p.Ser21289=)
c.37761T>C (p.Ser12587=)
c.37620T>C (p.Ser12540=)
c.63663T>C (p.Ser21221=)
c.59061T>C (p.Ser19687=)
c.59058T>C (p.Ser19686=)
c.56100T>C (p.Ser18700=)
c.37716T>C (p.Ser12572=)
c.59211T>C (p.Ser19737=)
c.59208T>C (p.Ser19736=)
c.58641T>C (p.Ser19547=)
c.55983T>C (p.Ser18661=)
c.55902T>C (p.Ser18634=)
c.37665T>C (p.Ser12555=)
c.27519T>C (p.Ser9173=)
2g.178584871A>TCA349436937TTN,TTN-AS1c.57066T>A (p.Ser19022Arg)
c.38151T>A (p.Ser12717Arg)
c.37950T>A (p.Ser12650Arg)
c.37575T>A (p.Ser12525Arg)
c.64770T>A (p.Ser21590Arg)
c.59847T>A (p.Ser19949Arg)
n.597-12725A>T
n.3066A>T
c.63867T>A (p.Ser21289Arg)
c.37761T>A (p.Ser12587Arg)
c.37620T>A (p.Ser12540Arg)
c.63663T>A (p.Ser21221Arg)
c.59061T>A (p.Ser19687Arg)
c.59058T>A (p.Ser19686Arg)
c.56100T>A (p.Ser18700Arg)
c.37716T>A (p.Ser12572Arg)
c.59211T>A (p.Ser19737Arg)
c.59208T>A (p.Ser19736Arg)
c.58641T>A (p.Ser19547Arg)
c.55983T>A (p.Ser18661Arg)
c.55902T>A (p.Ser18634Arg)
c.37665T>A (p.Ser12555Arg)
c.27519T>A (p.Ser9173Arg)
2g.178584872C>ACA349436942TTN,TTN-AS1c.57065G>T (p.Ser19022Ile)
c.38150G>T (p.Ser12717Ile)
c.37949G>T (p.Ser12650Ile)
c.37574G>T (p.Ser12525Ile)
c.64769G>T (p.Ser21590Ile)
c.59846G>T (p.Ser19949Ile)
n.597-12724C>A
n.3067C>A
c.63866G>T (p.Ser21289Ile)
c.37760G>T (p.Ser12587Ile)
c.37619G>T (p.Ser12540Ile)
c.63662G>T (p.Ser21221Ile)
c.59060G>T (p.Ser19687Ile)
c.59057G>T (p.Ser19686Ile)
c.56099G>T (p.Ser18700Ile)
c.37715G>T (p.Ser12572Ile)
c.59210G>T (p.Ser19737Ile)
c.59207G>T (p.Ser19736Ile)
c.58640G>T (p.Ser19547Ile)
c.55982G>T (p.Ser18661Ile)
c.55901G>T (p.Ser18634Ile)
c.37664G>T (p.Ser12555Ile)
c.27518G>T (p.Ser9173Ile)
2g.178584872C=CA1310537195TTN,TTN-AS1c.57065G= (p.Ser19022=)
c.38150G= (p.Ser12717=)
c.37949G= (p.Ser12650=)
c.37574G= (p.Ser12525=)
c.64769G= (p.Ser21590=)
c.59846G= (p.Ser19949=)
n.597-12724C=
n.3067C=
c.63866G= (p.Ser21289=)
c.37760G= (p.Ser12587=)
c.37619G= (p.Ser12540=)
c.63662G= (p.Ser21221=)
c.59060G= (p.Ser19687=)
c.59057G= (p.Ser19686=)
c.56099G= (p.Ser18700=)
c.37715G= (p.Ser12572=)
c.59210G= (p.Ser19737=)
c.59207G= (p.Ser19736=)
c.58640G= (p.Ser19547=)
c.55982G= (p.Ser18661=)
c.55901G= (p.Ser18634=)
c.37664G= (p.Ser12555=)
c.27518G= (p.Ser9173=)
2g.178584872C>GCA349436943TTN,TTN-AS1c.57065G>C (p.Ser19022Thr)
c.38150G>C (p.Ser12717Thr)
c.37949G>C (p.Ser12650Thr)
c.37574G>C (p.Ser12525Thr)
c.64769G>C (p.Ser21590Thr)
c.59846G>C (p.Ser19949Thr)
n.597-12724C>G
n.3067C>G
c.63866G>C (p.Ser21289Thr)
c.37760G>C (p.Ser12587Thr)
c.37619G>C (p.Ser12540Thr)
c.63662G>C (p.Ser21221Thr)
c.59060G>C (p.Ser19687Thr)
c.59057G>C (p.Ser19686Thr)
c.56099G>C (p.Ser18700Thr)
c.37715G>C (p.Ser12572Thr)
c.59210G>C (p.Ser19737Thr)
c.59207G>C (p.Ser19736Thr)
c.58640G>C (p.Ser19547Thr)
c.55982G>C (p.Ser18661Thr)
c.55901G>C (p.Ser18634Thr)
c.37664G>C (p.Ser12555Thr)
c.27518G>C (p.Ser9173Thr)

Number of alleles fetched