Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178532145G>ACA349411644TTN,TTN-AS1c.96766C>T (p.His32256Tyr)
c.77851C>T (p.His25951Tyr)
c.77650C>T (p.His25884Tyr)
c.77275C>T (p.His25759Tyr)
c.104470C>T (p.His34824Tyr)
c.99547C>T (p.His33183Tyr)
n.446+8509G>A
n.220-3587G>A
c.103567C>T (p.His34523Tyr)
c.77461C>T (p.His25821Tyr)
c.77320C>T (p.His25774Tyr)
c.103363C>T (p.His34455Tyr)
c.98761C>T (p.His32921Tyr)
c.98758C>T (p.His32920Tyr)
c.95800C>T (p.His31934Tyr)
c.77416C>T (p.His25806Tyr)
c.98911C>T (p.His32971Tyr)
c.98908C>T (p.His32970Tyr)
c.98341C>T (p.His32781Tyr)
c.95683C>T (p.His31895Tyr)
c.95602C>T (p.His31868Tyr)
c.77365C>T (p.His25789Tyr)
c.67219C>T (p.His22407Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532145G>CCA349411646TTN,TTN-AS1c.96766C>G (p.His32256Asp)
c.77851C>G (p.His25951Asp)
c.77650C>G (p.His25884Asp)
c.77275C>G (p.His25759Asp)
c.104470C>G (p.His34824Asp)
c.99547C>G (p.His33183Asp)
n.446+8509G>C
n.220-3587G>C
c.103567C>G (p.His34523Asp)
c.77461C>G (p.His25821Asp)
c.77320C>G (p.His25774Asp)
c.103363C>G (p.His34455Asp)
c.98761C>G (p.His32921Asp)
c.98758C>G (p.His32920Asp)
c.95800C>G (p.His31934Asp)
c.77416C>G (p.His25806Asp)
c.98911C>G (p.His32971Asp)
c.98908C>G (p.His32970Asp)
c.98341C>G (p.His32781Asp)
c.95683C>G (p.His31895Asp)
c.95602C>G (p.His31868Asp)
c.77365C>G (p.His25789Asp)
c.67219C>G (p.His22407Asp)
2g.178532145G=CA1310518101TTN,TTN-AS1c.96766C= (p.His32256=)
c.77851C= (p.His25951=)
c.77650C= (p.His25884=)
c.77275C= (p.His25759=)
c.104470C= (p.His34824=)
c.99547C= (p.His33183=)
n.446+8509G=
n.220-3587G=
c.103567C= (p.His34523=)
c.77461C= (p.His25821=)
c.77320C= (p.His25774=)
c.103363C= (p.His34455=)
c.98761C= (p.His32921=)
c.98758C= (p.His32920=)
c.95800C= (p.His31934=)
c.77416C= (p.His25806=)
c.98911C= (p.His32971=)
c.98908C= (p.His32970=)
c.98341C= (p.His32781=)
c.95683C= (p.His31895=)
c.95602C= (p.His31868=)
c.77365C= (p.His25789=)
c.67219C= (p.His22407=)
2g.178532145G>TCA349411647TTN,TTN-AS1c.96766C>A (p.His32256Asn)
c.77851C>A (p.His25951Asn)
c.77650C>A (p.His25884Asn)
c.77275C>A (p.His25759Asn)
c.104470C>A (p.His34824Asn)
c.99547C>A (p.His33183Asn)
n.446+8509G>T
n.220-3587G>T
c.103567C>A (p.His34523Asn)
c.77461C>A (p.His25821Asn)
c.77320C>A (p.His25774Asn)
c.103363C>A (p.His34455Asn)
c.98761C>A (p.His32921Asn)
c.98758C>A (p.His32920Asn)
c.95800C>A (p.His31934Asn)
c.77416C>A (p.His25806Asn)
c.98911C>A (p.His32971Asn)
c.98908C>A (p.His32970Asn)
c.98341C>A (p.His32781Asn)
c.95683C>A (p.His31895Asn)
c.95602C>A (p.His31868Asn)
c.77365C>A (p.His25789Asn)
c.67219C>A (p.His22407Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178532146T>ACA349411649TTN,TTN-AS1c.96765A>T (p.Lys32255Asn)
c.77850A>T (p.Lys25950Asn)
c.77649A>T (p.Lys25883Asn)
c.77274A>T (p.Lys25758Asn)
c.104469A>T (p.Lys34823Asn)
c.99546A>T (p.Lys33182Asn)
n.446+8510T>A
n.220-3586T>A
c.103566A>T (p.Lys34522Asn)
c.77460A>T (p.Lys25820Asn)
c.77319A>T (p.Lys25773Asn)
c.103362A>T (p.Lys34454Asn)
c.98760A>T (p.Lys32920Asn)
c.98757A>T (p.Lys32919Asn)
c.95799A>T (p.Lys31933Asn)
c.77415A>T (p.Lys25805Asn)
c.98910A>T (p.Lys32970Asn)
c.98907A>T (p.Lys32969Asn)
c.98340A>T (p.Lys32780Asn)
c.95682A>T (p.Lys31894Asn)
c.95601A>T (p.Lys31867Asn)
c.77364A>T (p.Lys25788Asn)
c.67218A>T (p.Lys22406Asn)
2g.178532146T>CCA430235895TTN,TTN-AS1c.96765A>G (p.Lys32255=)
c.77850A>G (p.Lys25950=)
c.77649A>G (p.Lys25883=)
c.77274A>G (p.Lys25758=)
c.104469A>G (p.Lys34823=)
c.99546A>G (p.Lys33182=)
n.446+8510T>C
n.220-3586T>C
c.103566A>G (p.Lys34522=)
c.77460A>G (p.Lys25820=)
c.77319A>G (p.Lys25773=)
c.103362A>G (p.Lys34454=)
c.98760A>G (p.Lys32920=)
c.98757A>G (p.Lys32919=)
c.95799A>G (p.Lys31933=)
c.77415A>G (p.Lys25805=)
c.98910A>G (p.Lys32970=)
c.98907A>G (p.Lys32969=)
c.98340A>G (p.Lys32780=)
c.95682A>G (p.Lys31894=)
c.95601A>G (p.Lys31867=)
c.77364A>G (p.Lys25788=)
c.67218A>G (p.Lys22406=)
2g.178532146T>GCA349411651TTN,TTN-AS1c.96765A>C (p.Lys32255Asn)
c.77850A>C (p.Lys25950Asn)
c.77649A>C (p.Lys25883Asn)
c.77274A>C (p.Lys25758Asn)
c.104469A>C (p.Lys34823Asn)
c.99546A>C (p.Lys33182Asn)
n.446+8510T>G
n.220-3586T>G
c.103566A>C (p.Lys34522Asn)
c.77460A>C (p.Lys25820Asn)
c.77319A>C (p.Lys25773Asn)
c.103362A>C (p.Lys34454Asn)
c.98760A>C (p.Lys32920Asn)
c.98757A>C (p.Lys32919Asn)
c.95799A>C (p.Lys31933Asn)
c.77415A>C (p.Lys25805Asn)
c.98910A>C (p.Lys32970Asn)
c.98907A>C (p.Lys32969Asn)
c.98340A>C (p.Lys32780Asn)
c.95682A>C (p.Lys31894Asn)
c.95601A>C (p.Lys31867Asn)
c.77364A>C (p.Lys25788Asn)
c.67218A>C (p.Lys22406Asn)
2g.178532147T>ACA349411655TTN,TTN-AS1c.96764A>T (p.Lys32255Ile)
c.77849A>T (p.Lys25950Ile)
c.77648A>T (p.Lys25883Ile)
c.77273A>T (p.Lys25758Ile)
c.104468A>T (p.Lys34823Ile)
c.99545A>T (p.Lys33182Ile)
n.446+8511T>A
n.220-3585T>A
c.103565A>T (p.Lys34522Ile)
c.77459A>T (p.Lys25820Ile)
c.77318A>T (p.Lys25773Ile)
c.103361A>T (p.Lys34454Ile)
c.98759A>T (p.Lys32920Ile)
c.98756A>T (p.Lys32919Ile)
c.95798A>T (p.Lys31933Ile)
c.77414A>T (p.Lys25805Ile)
c.98909A>T (p.Lys32970Ile)
c.98906A>T (p.Lys32969Ile)
c.98339A>T (p.Lys32780Ile)
c.95681A>T (p.Lys31894Ile)
c.95600A>T (p.Lys31867Ile)
c.77363A>T (p.Lys25788Ile)
c.67217A>T (p.Lys22406Ile)
2g.178532147T>CCA349411653TTN,TTN-AS1c.96764A>G (p.Lys32255Arg)
c.77849A>G (p.Lys25950Arg)
c.77648A>G (p.Lys25883Arg)
c.77273A>G (p.Lys25758Arg)
c.104468A>G (p.Lys34823Arg)
c.99545A>G (p.Lys33182Arg)
n.446+8511T>C
n.220-3585T>C
c.103565A>G (p.Lys34522Arg)
c.77459A>G (p.Lys25820Arg)
c.77318A>G (p.Lys25773Arg)
c.103361A>G (p.Lys34454Arg)
c.98759A>G (p.Lys32920Arg)
c.98756A>G (p.Lys32919Arg)
c.95798A>G (p.Lys31933Arg)
c.77414A>G (p.Lys25805Arg)
c.98909A>G (p.Lys32970Arg)
c.98906A>G (p.Lys32969Arg)
c.98339A>G (p.Lys32780Arg)
c.95681A>G (p.Lys31894Arg)
c.95600A>G (p.Lys31867Arg)
c.77363A>G (p.Lys25788Arg)
c.67217A>G (p.Lys22406Arg)
2g.178532147T>GCA349411654TTN,TTN-AS1c.96764A>C (p.Lys32255Thr)
c.77849A>C (p.Lys25950Thr)
c.77648A>C (p.Lys25883Thr)
c.77273A>C (p.Lys25758Thr)
c.104468A>C (p.Lys34823Thr)
c.99545A>C (p.Lys33182Thr)
n.446+8511T>G
n.220-3585T>G
c.103565A>C (p.Lys34522Thr)
c.77459A>C (p.Lys25820Thr)
c.77318A>C (p.Lys25773Thr)
c.103361A>C (p.Lys34454Thr)
c.98759A>C (p.Lys32920Thr)
c.98756A>C (p.Lys32919Thr)
c.95798A>C (p.Lys31933Thr)
c.77414A>C (p.Lys25805Thr)
c.98909A>C (p.Lys32970Thr)
c.98906A>C (p.Lys32969Thr)
c.98339A>C (p.Lys32780Thr)
c.95681A>C (p.Lys31894Thr)
c.95600A>C (p.Lys31867Thr)
c.77363A>C (p.Lys25788Thr)
c.67217A>C (p.Lys22406Thr)
2g.178532148T>ACA349411657TTN,TTN-AS1c.96763A>T (p.Lys32255Ter)
c.77848A>T (p.Lys25950Ter)
c.77647A>T (p.Lys25883Ter)
c.77272A>T (p.Lys25758Ter)
c.104467A>T (p.Lys34823Ter)
c.99544A>T (p.Lys33182Ter)
n.446+8512T>A
n.220-3584T>A
c.103564A>T (p.Lys34522Ter)
c.77458A>T (p.Lys25820Ter)
c.77317A>T (p.Lys25773Ter)
c.103360A>T (p.Lys34454Ter)
c.98758A>T (p.Lys32920Ter)
c.98755A>T (p.Lys32919Ter)
c.95797A>T (p.Lys31933Ter)
c.77413A>T (p.Lys25805Ter)
c.98908A>T (p.Lys32970Ter)
c.98905A>T (p.Lys32969Ter)
c.98338A>T (p.Lys32780Ter)
c.95680A>T (p.Lys31894Ter)
c.95599A>T (p.Lys31867Ter)
c.77362A>T (p.Lys25788Ter)
c.67216A>T (p.Lys22406Ter)
2g.178532148T>CCA349411659TTN,TTN-AS1c.96763A>G (p.Lys32255Glu)
c.77848A>G (p.Lys25950Glu)
c.77647A>G (p.Lys25883Glu)
c.77272A>G (p.Lys25758Glu)
c.104467A>G (p.Lys34823Glu)
c.99544A>G (p.Lys33182Glu)
n.446+8512T>C
n.220-3584T>C
c.103564A>G (p.Lys34522Glu)
c.77458A>G (p.Lys25820Glu)
c.77317A>G (p.Lys25773Glu)
c.103360A>G (p.Lys34454Glu)
c.98758A>G (p.Lys32920Glu)
c.98755A>G (p.Lys32919Glu)
c.95797A>G (p.Lys31933Glu)
c.77413A>G (p.Lys25805Glu)
c.98908A>G (p.Lys32970Glu)
c.98905A>G (p.Lys32969Glu)
c.98338A>G (p.Lys32780Glu)
c.95680A>G (p.Lys31894Glu)
c.95599A>G (p.Lys31867Glu)
c.77362A>G (p.Lys25788Glu)
c.67216A>G (p.Lys22406Glu)
2g.178532148T>GCA349411661TTN,TTN-AS1c.96763A>C (p.Lys32255Gln)
c.77848A>C (p.Lys25950Gln)
c.77647A>C (p.Lys25883Gln)
c.77272A>C (p.Lys25758Gln)
c.104467A>C (p.Lys34823Gln)
c.99544A>C (p.Lys33182Gln)
n.446+8512T>G
n.220-3584T>G
c.103564A>C (p.Lys34522Gln)
c.77458A>C (p.Lys25820Gln)
c.77317A>C (p.Lys25773Gln)
c.103360A>C (p.Lys34454Gln)
c.98758A>C (p.Lys32920Gln)
c.98755A>C (p.Lys32919Gln)
c.95797A>C (p.Lys31933Gln)
c.77413A>C (p.Lys25805Gln)
c.98908A>C (p.Lys32970Gln)
c.98905A>C (p.Lys32969Gln)
c.98338A>C (p.Lys32780Gln)
c.95680A>C (p.Lys31894Gln)
c.95599A>C (p.Lys31867Gln)
c.77362A>C (p.Lys25788Gln)
c.67216A>C (p.Lys22406Gln)
 gnomAD v4
2g.178532149T>ACA430235896TTN,TTN-AS1c.96762A>T (p.Ser32254=)
c.77847A>T (p.Ser25949=)
c.77646A>T (p.Ser25882=)
c.77271A>T (p.Ser25757=)
c.104466A>T (p.Ser34822=)
c.99543A>T (p.Ser33181=)
n.446+8513T>A
n.220-3583T>A
c.103563A>T (p.Ser34521=)
c.77457A>T (p.Ser25819=)
c.77316A>T (p.Ser25772=)
c.103359A>T (p.Ser34453=)
c.98757A>T (p.Ser32919=)
c.98754A>T (p.Ser32918=)
c.95796A>T (p.Ser31932=)
c.77412A>T (p.Ser25804=)
c.98907A>T (p.Ser32969=)
c.98904A>T (p.Ser32968=)
c.98337A>T (p.Ser32779=)
c.95679A>T (p.Ser31893=)
c.95598A>T (p.Ser31866=)
c.77361A>T (p.Ser25787=)
c.67215A>T (p.Ser22405=)
2g.178532149T>CCA430235897TTN,TTN-AS1c.96762A>G (p.Ser32254=)
c.77847A>G (p.Ser25949=)
c.77646A>G (p.Ser25882=)
c.77271A>G (p.Ser25757=)
c.104466A>G (p.Ser34822=)
c.99543A>G (p.Ser33181=)
n.446+8513T>C
n.220-3583T>C
c.103563A>G (p.Ser34521=)
c.77457A>G (p.Ser25819=)
c.77316A>G (p.Ser25772=)
c.103359A>G (p.Ser34453=)
c.98757A>G (p.Ser32919=)
c.98754A>G (p.Ser32918=)
c.95796A>G (p.Ser31932=)
c.77412A>G (p.Ser25804=)
c.98907A>G (p.Ser32969=)
c.98904A>G (p.Ser32968=)
c.98337A>G (p.Ser32779=)
c.95679A>G (p.Ser31893=)
c.95598A>G (p.Ser31866=)
c.77361A>G (p.Ser25787=)
c.67215A>G (p.Ser22405=)
 ClinVar
2g.178532149T>GCA430235898TTN,TTN-AS1c.96762A>C (p.Ser32254=)
c.77847A>C (p.Ser25949=)
c.77646A>C (p.Ser25882=)
c.77271A>C (p.Ser25757=)
c.104466A>C (p.Ser34822=)
c.99543A>C (p.Ser33181=)
n.446+8513T>G
n.220-3583T>G
c.103563A>C (p.Ser34521=)
c.77457A>C (p.Ser25819=)
c.77316A>C (p.Ser25772=)
c.103359A>C (p.Ser34453=)
c.98757A>C (p.Ser32919=)
c.98754A>C (p.Ser32918=)
c.95796A>C (p.Ser31932=)
c.77412A>C (p.Ser25804=)
c.98907A>C (p.Ser32969=)
c.98904A>C (p.Ser32968=)
c.98337A>C (p.Ser32779=)
c.95679A>C (p.Ser31893=)
c.95598A>C (p.Ser31866=)
c.77361A>C (p.Ser25787=)
c.67215A>C (p.Ser22405=)
2g.178532150G>ACA1985421TTN,TTN-AS1c.96761C>T (p.Ser32254Leu)
c.77846C>T (p.Ser25949Leu)
c.77645C>T (p.Ser25882Leu)
c.77270C>T (p.Ser25757Leu)
c.104465C>T (p.Ser34822Leu)
c.99542C>T (p.Ser33181Leu)
n.446+8514G>A
n.220-3582G>A
c.103562C>T (p.Ser34521Leu)
c.77456C>T (p.Ser25819Leu)
c.77315C>T (p.Ser25772Leu)
c.103358C>T (p.Ser34453Leu)
c.98756C>T (p.Ser32919Leu)
c.98753C>T (p.Ser32918Leu)
c.95795C>T (p.Ser31932Leu)
c.77411C>T (p.Ser25804Leu)
c.98906C>T (p.Ser32969Leu)
c.98903C>T (p.Ser32968Leu)
c.98336C>T (p.Ser32779Leu)
c.95678C>T (p.Ser31893Leu)
c.95597C>T (p.Ser31866Leu)
c.77360C>T (p.Ser25787Leu)
c.67214C>T (p.Ser22405Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532150G>CCA349411664TTN,TTN-AS1c.96761C>G (p.Ser32254Ter)
c.77846C>G (p.Ser25949Ter)
c.77645C>G (p.Ser25882Ter)
c.77270C>G (p.Ser25757Ter)
c.104465C>G (p.Ser34822Ter)
c.99542C>G (p.Ser33181Ter)
n.446+8514G>C
n.220-3582G>C
c.103562C>G (p.Ser34521Ter)
c.77456C>G (p.Ser25819Ter)
c.77315C>G (p.Ser25772Ter)
c.103358C>G (p.Ser34453Ter)
c.98756C>G (p.Ser32919Ter)
c.98753C>G (p.Ser32918Ter)
c.95795C>G (p.Ser31932Ter)
c.77411C>G (p.Ser25804Ter)
c.98906C>G (p.Ser32969Ter)
c.98903C>G (p.Ser32968Ter)
c.98336C>G (p.Ser32779Ter)
c.95678C>G (p.Ser31893Ter)
c.95597C>G (p.Ser31866Ter)
c.77360C>G (p.Ser25787Ter)
c.67214C>G (p.Ser22405Ter)
2g.178532150G=CA1310518102TTN,TTN-AS1c.96761C= (p.Ser32254=)
c.77846C= (p.Ser25949=)
c.77645C= (p.Ser25882=)
c.77270C= (p.Ser25757=)
c.104465C= (p.Ser34822=)
c.99542C= (p.Ser33181=)
n.446+8514G=
n.220-3582G=
c.103562C= (p.Ser34521=)
c.77456C= (p.Ser25819=)
c.77315C= (p.Ser25772=)
c.103358C= (p.Ser34453=)
c.98756C= (p.Ser32919=)
c.98753C= (p.Ser32918=)
c.95795C= (p.Ser31932=)
c.77411C= (p.Ser25804=)
c.98906C= (p.Ser32969=)
c.98903C= (p.Ser32968=)
c.98336C= (p.Ser32779=)
c.95678C= (p.Ser31893=)
c.95597C= (p.Ser31866=)
c.77360C= (p.Ser25787=)
c.67214C= (p.Ser22405=)
2g.178532150G>TCA349411665TTN,TTN-AS1c.96761C>A (p.Ser32254Ter)
c.77846C>A (p.Ser25949Ter)
c.77645C>A (p.Ser25882Ter)
c.77270C>A (p.Ser25757Ter)
c.104465C>A (p.Ser34822Ter)
c.99542C>A (p.Ser33181Ter)
n.446+8514G>T
n.220-3582G>T
c.103562C>A (p.Ser34521Ter)
c.77456C>A (p.Ser25819Ter)
c.77315C>A (p.Ser25772Ter)
c.103358C>A (p.Ser34453Ter)
c.98756C>A (p.Ser32919Ter)
c.98753C>A (p.Ser32918Ter)
c.95795C>A (p.Ser31932Ter)
c.77411C>A (p.Ser25804Ter)
c.98906C>A (p.Ser32969Ter)
c.98903C>A (p.Ser32968Ter)
c.98336C>A (p.Ser32779Ter)
c.95678C>A (p.Ser31893Ter)
c.95597C>A (p.Ser31866Ter)
c.77360C>A (p.Ser25787Ter)
c.67214C>A (p.Ser22405Ter)
2g.178532151A=CA1310518103TTN,TTN-AS1c.96760T= (p.Ser32254=)
c.77845T= (p.Ser25949=)
c.77644T= (p.Ser25882=)
c.77269T= (p.Ser25757=)
c.104464T= (p.Ser34822=)
c.99541T= (p.Ser33181=)
n.446+8515A=
n.220-3581A=
c.103561T= (p.Ser34521=)
c.77455T= (p.Ser25819=)
c.77314T= (p.Ser25772=)
c.103357T= (p.Ser34453=)
c.98755T= (p.Ser32919=)
c.98752T= (p.Ser32918=)
c.95794T= (p.Ser31932=)
c.77410T= (p.Ser25804=)
c.98905T= (p.Ser32969=)
c.98902T= (p.Ser32968=)
c.98335T= (p.Ser32779=)
c.95677T= (p.Ser31893=)
c.95596T= (p.Ser31866=)
c.77359T= (p.Ser25787=)
c.67213T= (p.Ser22405=)
2g.178532151A>CCA349411667TTN,TTN-AS1c.96760T>G (p.Ser32254Ala)
c.77845T>G (p.Ser25949Ala)
c.77644T>G (p.Ser25882Ala)
c.77269T>G (p.Ser25757Ala)
c.104464T>G (p.Ser34822Ala)
c.99541T>G (p.Ser33181Ala)
n.446+8515A>C
n.220-3581A>C
c.103561T>G (p.Ser34521Ala)
c.77455T>G (p.Ser25819Ala)
c.77314T>G (p.Ser25772Ala)
c.103357T>G (p.Ser34453Ala)
c.98755T>G (p.Ser32919Ala)
c.98752T>G (p.Ser32918Ala)
c.95794T>G (p.Ser31932Ala)
c.77410T>G (p.Ser25804Ala)
c.98905T>G (p.Ser32969Ala)
c.98902T>G (p.Ser32968Ala)
c.98335T>G (p.Ser32779Ala)
c.95677T>G (p.Ser31893Ala)
c.95596T>G (p.Ser31866Ala)
c.77359T>G (p.Ser25787Ala)
c.67213T>G (p.Ser22405Ala)
2g.178532151A>GCA1985422TTN,TTN-AS1c.96760T>C (p.Ser32254Pro)
c.77845T>C (p.Ser25949Pro)
c.77644T>C (p.Ser25882Pro)
c.77269T>C (p.Ser25757Pro)
c.104464T>C (p.Ser34822Pro)
c.99541T>C (p.Ser33181Pro)
n.446+8515A>G
n.220-3581A>G
c.103561T>C (p.Ser34521Pro)
c.77455T>C (p.Ser25819Pro)
c.77314T>C (p.Ser25772Pro)
c.103357T>C (p.Ser34453Pro)
c.98755T>C (p.Ser32919Pro)
c.98752T>C (p.Ser32918Pro)
c.95794T>C (p.Ser31932Pro)
c.77410T>C (p.Ser25804Pro)
c.98905T>C (p.Ser32969Pro)
c.98902T>C (p.Ser32968Pro)
c.98335T>C (p.Ser32779Pro)
c.95677T>C (p.Ser31893Pro)
c.95596T>C (p.Ser31866Pro)
c.77359T>C (p.Ser25787Pro)
c.67213T>C (p.Ser22405Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532151A>TCA349411669TTN,TTN-AS1c.96760T>A (p.Ser32254Thr)
c.77845T>A (p.Ser25949Thr)
c.77644T>A (p.Ser25882Thr)
c.77269T>A (p.Ser25757Thr)
c.104464T>A (p.Ser34822Thr)
c.99541T>A (p.Ser33181Thr)
n.446+8515A>T
n.220-3581A>T
c.103561T>A (p.Ser34521Thr)
c.77455T>A (p.Ser25819Thr)
c.77314T>A (p.Ser25772Thr)
c.103357T>A (p.Ser34453Thr)
c.98755T>A (p.Ser32919Thr)
c.98752T>A (p.Ser32918Thr)
c.95794T>A (p.Ser31932Thr)
c.77410T>A (p.Ser25804Thr)
c.98905T>A (p.Ser32969Thr)
c.98902T>A (p.Ser32968Thr)
c.98335T>A (p.Ser32779Thr)
c.95677T>A (p.Ser31893Thr)
c.95596T>A (p.Ser31866Thr)
c.77359T>A (p.Ser25787Thr)
c.67213T>A (p.Ser22405Thr)
2g.178532152G>ACA430235899TTN,TTN-AS1c.96759C>T (p.Ile32253=)
c.77844C>T (p.Ile25948=)
c.77643C>T (p.Ile25881=)
c.77268C>T (p.Ile25756=)
c.104463C>T (p.Ile34821=)
c.99540C>T (p.Ile33180=)
n.446+8516G>A
n.220-3580G>A
c.103560C>T (p.Ile34520=)
c.77454C>T (p.Ile25818=)
c.77313C>T (p.Ile25771=)
c.103356C>T (p.Ile34452=)
c.98754C>T (p.Ile32918=)
c.98751C>T (p.Ile32917=)
c.95793C>T (p.Ile31931=)
c.77409C>T (p.Ile25803=)
c.98904C>T (p.Ile32968=)
c.98901C>T (p.Ile32967=)
c.98334C>T (p.Ile32778=)
c.95676C>T (p.Ile31892=)
c.95595C>T (p.Ile31865=)
c.77358C>T (p.Ile25786=)
c.67212C>T (p.Ile22404=)
 gnomAD v4
2g.178532152G>CCA349411671TTN,TTN-AS1c.96759C>G (p.Ile32253Met)
c.77844C>G (p.Ile25948Met)
c.77643C>G (p.Ile25881Met)
c.77268C>G (p.Ile25756Met)
c.104463C>G (p.Ile34821Met)
c.99540C>G (p.Ile33180Met)
n.446+8516G>C
n.220-3580G>C
c.103560C>G (p.Ile34520Met)
c.77454C>G (p.Ile25818Met)
c.77313C>G (p.Ile25771Met)
c.103356C>G (p.Ile34452Met)
c.98754C>G (p.Ile32918Met)
c.98751C>G (p.Ile32917Met)
c.95793C>G (p.Ile31931Met)
c.77409C>G (p.Ile25803Met)
c.98904C>G (p.Ile32968Met)
c.98901C>G (p.Ile32967Met)
c.98334C>G (p.Ile32778Met)
c.95676C>G (p.Ile31892Met)
c.95595C>G (p.Ile31865Met)
c.77358C>G (p.Ile25786Met)
c.67212C>G (p.Ile22404Met)
 gnomAD v4
2g.178532152G>TCA430235900TTN,TTN-AS1c.96759C>A (p.Ile32253=)
c.77844C>A (p.Ile25948=)
c.77643C>A (p.Ile25881=)
c.77268C>A (p.Ile25756=)
c.104463C>A (p.Ile34821=)
c.99540C>A (p.Ile33180=)
n.446+8516G>T
n.220-3580G>T
c.103560C>A (p.Ile34520=)
c.77454C>A (p.Ile25818=)
c.77313C>A (p.Ile25771=)
c.103356C>A (p.Ile34452=)
c.98754C>A (p.Ile32918=)
c.98751C>A (p.Ile32917=)
c.95793C>A (p.Ile31931=)
c.77409C>A (p.Ile25803=)
c.98904C>A (p.Ile32968=)
c.98901C>A (p.Ile32967=)
c.98334C>A (p.Ile32778=)
c.95676C>A (p.Ile31892=)
c.95595C>A (p.Ile31865=)
c.77358C>A (p.Ile25786=)
c.67212C>A (p.Ile22404=)
2g.178532153A>CCA349411673TTN,TTN-AS1c.96758T>G (p.Ile32253Ser)
c.77843T>G (p.Ile25948Ser)
c.77642T>G (p.Ile25881Ser)
c.77267T>G (p.Ile25756Ser)
c.104462T>G (p.Ile34821Ser)
c.99539T>G (p.Ile33180Ser)
n.446+8517A>C
n.220-3579A>C
c.103559T>G (p.Ile34520Ser)
c.77453T>G (p.Ile25818Ser)
c.77312T>G (p.Ile25771Ser)
c.103355T>G (p.Ile34452Ser)
c.98753T>G (p.Ile32918Ser)
c.98750T>G (p.Ile32917Ser)
c.95792T>G (p.Ile31931Ser)
c.77408T>G (p.Ile25803Ser)
c.98903T>G (p.Ile32968Ser)
c.98900T>G (p.Ile32967Ser)
c.98333T>G (p.Ile32778Ser)
c.95675T>G (p.Ile31892Ser)
c.95594T>G (p.Ile31865Ser)
c.77357T>G (p.Ile25786Ser)
c.67211T>G (p.Ile22404Ser)
2g.178532153A>GCA349411674TTN,TTN-AS1c.96758T>C (p.Ile32253Thr)
c.77843T>C (p.Ile25948Thr)
c.77642T>C (p.Ile25881Thr)
c.77267T>C (p.Ile25756Thr)
c.104462T>C (p.Ile34821Thr)
c.99539T>C (p.Ile33180Thr)
n.446+8517A>G
n.220-3579A>G
c.103559T>C (p.Ile34520Thr)
c.77453T>C (p.Ile25818Thr)
c.77312T>C (p.Ile25771Thr)
c.103355T>C (p.Ile34452Thr)
c.98753T>C (p.Ile32918Thr)
c.98750T>C (p.Ile32917Thr)
c.95792T>C (p.Ile31931Thr)
c.77408T>C (p.Ile25803Thr)
c.98903T>C (p.Ile32968Thr)
c.98900T>C (p.Ile32967Thr)
c.98333T>C (p.Ile32778Thr)
c.95675T>C (p.Ile31892Thr)
c.95594T>C (p.Ile31865Thr)
c.77357T>C (p.Ile25786Thr)
c.67211T>C (p.Ile22404Thr)
 dbSNP gnomAD v4
2g.178532153A>TCA349411675TTN,TTN-AS1c.96758T>A (p.Ile32253Asn)
c.77843T>A (p.Ile25948Asn)
c.77642T>A (p.Ile25881Asn)
c.77267T>A (p.Ile25756Asn)
c.104462T>A (p.Ile34821Asn)
c.99539T>A (p.Ile33180Asn)
n.446+8517A>T
n.220-3579A>T
c.103559T>A (p.Ile34520Asn)
c.77453T>A (p.Ile25818Asn)
c.77312T>A (p.Ile25771Asn)
c.103355T>A (p.Ile34452Asn)
c.98753T>A (p.Ile32918Asn)
c.98750T>A (p.Ile32917Asn)
c.95792T>A (p.Ile31931Asn)
c.77408T>A (p.Ile25803Asn)
c.98903T>A (p.Ile32968Asn)
c.98900T>A (p.Ile32967Asn)
c.98333T>A (p.Ile32778Asn)
c.95675T>A (p.Ile31892Asn)
c.95594T>A (p.Ile31865Asn)
c.77357T>A (p.Ile25786Asn)
c.67211T>A (p.Ile22404Asn)
2g.178532154T>ACA349411678TTN,TTN-AS1c.96757A>T (p.Ile32253Phe)
c.77842A>T (p.Ile25948Phe)
c.77641A>T (p.Ile25881Phe)
c.77266A>T (p.Ile25756Phe)
c.104461A>T (p.Ile34821Phe)
c.99538A>T (p.Ile33180Phe)
n.446+8518T>A
n.220-3578T>A
c.103558A>T (p.Ile34520Phe)
c.77452A>T (p.Ile25818Phe)
c.77311A>T (p.Ile25771Phe)
c.103354A>T (p.Ile34452Phe)
c.98752A>T (p.Ile32918Phe)
c.98749A>T (p.Ile32917Phe)
c.95791A>T (p.Ile31931Phe)
c.77407A>T (p.Ile25803Phe)
c.98902A>T (p.Ile32968Phe)
c.98899A>T (p.Ile32967Phe)
c.98332A>T (p.Ile32778Phe)
c.95674A>T (p.Ile31892Phe)
c.95593A>T (p.Ile31865Phe)
c.77356A>T (p.Ile25786Phe)
c.67210A>T (p.Ile22404Phe)
2g.178532154T>CCA349411676TTN,TTN-AS1c.96757A>G (p.Ile32253Val)
c.77842A>G (p.Ile25948Val)
c.77641A>G (p.Ile25881Val)
c.77266A>G (p.Ile25756Val)
c.104461A>G (p.Ile34821Val)
c.99538A>G (p.Ile33180Val)
n.446+8518T>C
n.220-3578T>C
c.103558A>G (p.Ile34520Val)
c.77452A>G (p.Ile25818Val)
c.77311A>G (p.Ile25771Val)
c.103354A>G (p.Ile34452Val)
c.98752A>G (p.Ile32918Val)
c.98749A>G (p.Ile32917Val)
c.95791A>G (p.Ile31931Val)
c.77407A>G (p.Ile25803Val)
c.98902A>G (p.Ile32968Val)
c.98899A>G (p.Ile32967Val)
c.98332A>G (p.Ile32778Val)
c.95674A>G (p.Ile31892Val)
c.95593A>G (p.Ile31865Val)
c.77356A>G (p.Ile25786Val)
c.67210A>G (p.Ile22404Val)
2g.178532154T>GCA349411677TTN,TTN-AS1c.96757A>C (p.Ile32253Leu)
c.77842A>C (p.Ile25948Leu)
c.77641A>C (p.Ile25881Leu)
c.77266A>C (p.Ile25756Leu)
c.104461A>C (p.Ile34821Leu)
c.99538A>C (p.Ile33180Leu)
n.446+8518T>G
n.220-3578T>G
c.103558A>C (p.Ile34520Leu)
c.77452A>C (p.Ile25818Leu)
c.77311A>C (p.Ile25771Leu)
c.103354A>C (p.Ile34452Leu)
c.98752A>C (p.Ile32918Leu)
c.98749A>C (p.Ile32917Leu)
c.95791A>C (p.Ile31931Leu)
c.77407A>C (p.Ile25803Leu)
c.98902A>C (p.Ile32968Leu)
c.98899A>C (p.Ile32967Leu)
c.98332A>C (p.Ile32778Leu)
c.95674A>C (p.Ile31892Leu)
c.95593A>C (p.Ile31865Leu)
c.77356A>C (p.Ile25786Leu)
c.67210A>C (p.Ile22404Leu)
2g.178532155T>ACA349411679TTN,TTN-AS1c.96756A>T (p.Glu32252Asp)
c.77841A>T (p.Glu25947Asp)
c.77640A>T (p.Glu25880Asp)
c.77265A>T (p.Glu25755Asp)
c.104460A>T (p.Glu34820Asp)
c.99537A>T (p.Glu33179Asp)
n.446+8519T>A
n.220-3577T>A
c.103557A>T (p.Glu34519Asp)
c.77451A>T (p.Glu25817Asp)
c.77310A>T (p.Glu25770Asp)
c.103353A>T (p.Glu34451Asp)
c.98751A>T (p.Glu32917Asp)
c.98748A>T (p.Glu32916Asp)
c.95790A>T (p.Glu31930Asp)
c.77406A>T (p.Glu25802Asp)
c.98901A>T (p.Glu32967Asp)
c.98898A>T (p.Glu32966Asp)
c.98331A>T (p.Glu32777Asp)
c.95673A>T (p.Glu31891Asp)
c.95592A>T (p.Glu31864Asp)
c.77355A>T (p.Glu25785Asp)
c.67209A>T (p.Glu22403Asp)
2g.178532155T>CCA430235901TTN,TTN-AS1c.96756A>G (p.Glu32252=)
c.77841A>G (p.Glu25947=)
c.77640A>G (p.Glu25880=)
c.77265A>G (p.Glu25755=)
c.104460A>G (p.Glu34820=)
c.99537A>G (p.Glu33179=)
n.446+8519T>C
n.220-3577T>C
c.103557A>G (p.Glu34519=)
c.77451A>G (p.Glu25817=)
c.77310A>G (p.Glu25770=)
c.103353A>G (p.Glu34451=)
c.98751A>G (p.Glu32917=)
c.98748A>G (p.Glu32916=)
c.95790A>G (p.Glu31930=)
c.77406A>G (p.Glu25802=)
c.98901A>G (p.Glu32967=)
c.98898A>G (p.Glu32966=)
c.98331A>G (p.Glu32777=)
c.95673A>G (p.Glu31891=)
c.95592A>G (p.Glu31864=)
c.77355A>G (p.Glu25785=)
c.67209A>G (p.Glu22403=)
2g.178532155T>GCA349411680TTN,TTN-AS1c.96756A>C (p.Glu32252Asp)
c.77841A>C (p.Glu25947Asp)
c.77640A>C (p.Glu25880Asp)
c.77265A>C (p.Glu25755Asp)
c.104460A>C (p.Glu34820Asp)
c.99537A>C (p.Glu33179Asp)
n.446+8519T>G
n.220-3577T>G
c.103557A>C (p.Glu34519Asp)
c.77451A>C (p.Glu25817Asp)
c.77310A>C (p.Glu25770Asp)
c.103353A>C (p.Glu34451Asp)
c.98751A>C (p.Glu32917Asp)
c.98748A>C (p.Glu32916Asp)
c.95790A>C (p.Glu31930Asp)
c.77406A>C (p.Glu25802Asp)
c.98901A>C (p.Glu32967Asp)
c.98898A>C (p.Glu32966Asp)
c.98331A>C (p.Glu32777Asp)
c.95673A>C (p.Glu31891Asp)
c.95592A>C (p.Glu31864Asp)
c.77355A>C (p.Glu25785Asp)
c.67209A>C (p.Glu22403Asp)
2g.178532156T>ACA349411681TTN,TTN-AS1c.96755A>T (p.Glu32252Val)
c.77840A>T (p.Glu25947Val)
c.77639A>T (p.Glu25880Val)
c.77264A>T (p.Glu25755Val)
c.104459A>T (p.Glu34820Val)
c.99536A>T (p.Glu33179Val)
n.446+8520T>A
n.220-3576T>A
c.103556A>T (p.Glu34519Val)
c.77450A>T (p.Glu25817Val)
c.77309A>T (p.Glu25770Val)
c.103352A>T (p.Glu34451Val)
c.98750A>T (p.Glu32917Val)
c.98747A>T (p.Glu32916Val)
c.95789A>T (p.Glu31930Val)
c.77405A>T (p.Glu25802Val)
c.98900A>T (p.Glu32967Val)
c.98897A>T (p.Glu32966Val)
c.98330A>T (p.Glu32777Val)
c.95672A>T (p.Glu31891Val)
c.95591A>T (p.Glu31864Val)
c.77354A>T (p.Glu25785Val)
c.67208A>T (p.Glu22403Val)
2g.178532156T>CCA349411682TTN,TTN-AS1c.96755A>G (p.Glu32252Gly)
c.77840A>G (p.Glu25947Gly)
c.77639A>G (p.Glu25880Gly)
c.77264A>G (p.Glu25755Gly)
c.104459A>G (p.Glu34820Gly)
c.99536A>G (p.Glu33179Gly)
n.446+8520T>C
n.220-3576T>C
c.103556A>G (p.Glu34519Gly)
c.77450A>G (p.Glu25817Gly)
c.77309A>G (p.Glu25770Gly)
c.103352A>G (p.Glu34451Gly)
c.98750A>G (p.Glu32917Gly)
c.98747A>G (p.Glu32916Gly)
c.95789A>G (p.Glu31930Gly)
c.77405A>G (p.Glu25802Gly)
c.98900A>G (p.Glu32967Gly)
c.98897A>G (p.Glu32966Gly)
c.98330A>G (p.Glu32777Gly)
c.95672A>G (p.Glu31891Gly)
c.95591A>G (p.Glu31864Gly)
c.77354A>G (p.Glu25785Gly)
c.67208A>G (p.Glu22403Gly)
2g.178532156T>GCA349411683TTN,TTN-AS1c.96755A>C (p.Glu32252Ala)
c.77840A>C (p.Glu25947Ala)
c.77639A>C (p.Glu25880Ala)
c.77264A>C (p.Glu25755Ala)
c.104459A>C (p.Glu34820Ala)
c.99536A>C (p.Glu33179Ala)
n.446+8520T>G
n.220-3576T>G
c.103556A>C (p.Glu34519Ala)
c.77450A>C (p.Glu25817Ala)
c.77309A>C (p.Glu25770Ala)
c.103352A>C (p.Glu34451Ala)
c.98750A>C (p.Glu32917Ala)
c.98747A>C (p.Glu32916Ala)
c.95789A>C (p.Glu31930Ala)
c.77405A>C (p.Glu25802Ala)
c.98900A>C (p.Glu32967Ala)
c.98897A>C (p.Glu32966Ala)
c.98330A>C (p.Glu32777Ala)
c.95672A>C (p.Glu31891Ala)
c.95591A>C (p.Glu31864Ala)
c.77354A>C (p.Glu25785Ala)
c.67208A>C (p.Glu22403Ala)
2g.178532157C>ACA349411685TTN,TTN-AS1c.96754G>T (p.Glu32252Ter)
c.77839G>T (p.Glu25947Ter)
c.77638G>T (p.Glu25880Ter)
c.77263G>T (p.Glu25755Ter)
c.104458G>T (p.Glu34820Ter)
c.99535G>T (p.Glu33179Ter)
n.446+8521C>A
n.220-3575C>A
c.103555G>T (p.Glu34519Ter)
c.77449G>T (p.Glu25817Ter)
c.77308G>T (p.Glu25770Ter)
c.103351G>T (p.Glu34451Ter)
c.98749G>T (p.Glu32917Ter)
c.98746G>T (p.Glu32916Ter)
c.95788G>T (p.Glu31930Ter)
c.77404G>T (p.Glu25802Ter)
c.98899G>T (p.Glu32967Ter)
c.98896G>T (p.Glu32966Ter)
c.98329G>T (p.Glu32777Ter)
c.95671G>T (p.Glu31891Ter)
c.95590G>T (p.Glu31864Ter)
c.77353G>T (p.Glu25785Ter)
c.67207G>T (p.Glu22403Ter)
2g.178532157C=CA1310518104TTN,TTN-AS1c.96754G= (p.Glu32252=)
c.77839G= (p.Glu25947=)
c.77638G= (p.Glu25880=)
c.77263G= (p.Glu25755=)
c.104458G= (p.Glu34820=)
c.99535G= (p.Glu33179=)
n.446+8521C=
n.220-3575C=
c.103555G= (p.Glu34519=)
c.77449G= (p.Glu25817=)
c.77308G= (p.Glu25770=)
c.103351G= (p.Glu34451=)
c.98749G= (p.Glu32917=)
c.98746G= (p.Glu32916=)
c.95788G= (p.Glu31930=)
c.77404G= (p.Glu25802=)
c.98899G= (p.Glu32967=)
c.98896G= (p.Glu32966=)
c.98329G= (p.Glu32777=)
c.95671G= (p.Glu31891=)
c.95590G= (p.Glu31864=)
c.77353G= (p.Glu25785=)
c.67207G= (p.Glu22403=)
2g.178532157C>GCA349411684TTN,TTN-AS1c.96754G>C (p.Glu32252Gln)
c.77839G>C (p.Glu25947Gln)
c.77638G>C (p.Glu25880Gln)
c.77263G>C (p.Glu25755Gln)
c.104458G>C (p.Glu34820Gln)
c.99535G>C (p.Glu33179Gln)
n.446+8521C>G
n.220-3575C>G
c.103555G>C (p.Glu34519Gln)
c.77449G>C (p.Glu25817Gln)
c.77308G>C (p.Glu25770Gln)
c.103351G>C (p.Glu34451Gln)
c.98749G>C (p.Glu32917Gln)
c.98746G>C (p.Glu32916Gln)
c.95788G>C (p.Glu31930Gln)
c.77404G>C (p.Glu25802Gln)
c.98899G>C (p.Glu32967Gln)
c.98896G>C (p.Glu32966Gln)
c.98329G>C (p.Glu32777Gln)
c.95671G>C (p.Glu31891Gln)
c.95590G>C (p.Glu31864Gln)
c.77353G>C (p.Glu25785Gln)
c.67207G>C (p.Glu22403Gln)
2g.178532157C>TCA1985423TTN,TTN-AS1c.96754G>A (p.Glu32252Lys)
c.77839G>A (p.Glu25947Lys)
c.77638G>A (p.Glu25880Lys)
c.77263G>A (p.Glu25755Lys)
c.104458G>A (p.Glu34820Lys)
c.99535G>A (p.Glu33179Lys)
n.446+8521C>T
n.220-3575C>T
c.103555G>A (p.Glu34519Lys)
c.77449G>A (p.Glu25817Lys)
c.77308G>A (p.Glu25770Lys)
c.103351G>A (p.Glu34451Lys)
c.98749G>A (p.Glu32917Lys)
c.98746G>A (p.Glu32916Lys)
c.95788G>A (p.Glu31930Lys)
c.77404G>A (p.Glu25802Lys)
c.98899G>A (p.Glu32967Lys)
c.98896G>A (p.Glu32966Lys)
c.98329G>A (p.Glu32777Lys)
c.95671G>A (p.Glu31891Lys)
c.95590G>A (p.Glu31864Lys)
c.77353G>A (p.Glu25785Lys)
c.67207G>A (p.Glu22403Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532158G>ACA291495TTN,TTN-AS1c.96753C>T (p.Tyr32251=)
c.77838C>T (p.Tyr25946=)
c.77637C>T (p.Tyr25879=)
c.77262C>T (p.Tyr25754=)
c.104457C>T (p.Tyr34819=)
c.99534C>T (p.Tyr33178=)
n.446+8522G>A
n.220-3574G>A
c.103554C>T (p.Tyr34518=)
c.77448C>T (p.Tyr25816=)
c.77307C>T (p.Tyr25769=)
c.103350C>T (p.Tyr34450=)
c.98748C>T (p.Tyr32916=)
c.98745C>T (p.Tyr32915=)
c.95787C>T (p.Tyr31929=)
c.77403C>T (p.Tyr25801=)
c.98898C>T (p.Tyr32966=)
c.98895C>T (p.Tyr32965=)
c.98328C>T (p.Tyr32776=)
c.95670C>T (p.Tyr31890=)
c.95589C>T (p.Tyr31863=)
c.77352C>T (p.Tyr25784=)
c.67206C>T (p.Tyr22402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532158G>CCA349411686TTN,TTN-AS1c.96753C>G (p.Tyr32251Ter)
c.77838C>G (p.Tyr25946Ter)
c.77637C>G (p.Tyr25879Ter)
c.77262C>G (p.Tyr25754Ter)
c.104457C>G (p.Tyr34819Ter)
c.99534C>G (p.Tyr33178Ter)
n.446+8522G>C
n.220-3574G>C
c.103554C>G (p.Tyr34518Ter)
c.77448C>G (p.Tyr25816Ter)
c.77307C>G (p.Tyr25769Ter)
c.103350C>G (p.Tyr34450Ter)
c.98748C>G (p.Tyr32916Ter)
c.98745C>G (p.Tyr32915Ter)
c.95787C>G (p.Tyr31929Ter)
c.77403C>G (p.Tyr25801Ter)
c.98898C>G (p.Tyr32966Ter)
c.98895C>G (p.Tyr32965Ter)
c.98328C>G (p.Tyr32776Ter)
c.95670C>G (p.Tyr31890Ter)
c.95589C>G (p.Tyr31863Ter)
c.77352C>G (p.Tyr25784Ter)
c.67206C>G (p.Tyr22402Ter)
2g.178532158G=CA1310518105TTN,TTN-AS1c.96753C= (p.Tyr32251=)
c.77838C= (p.Tyr25946=)
c.77637C= (p.Tyr25879=)
c.77262C= (p.Tyr25754=)
c.104457C= (p.Tyr34819=)
c.99534C= (p.Tyr33178=)
n.446+8522G=
n.220-3574G=
c.103554C= (p.Tyr34518=)
c.77448C= (p.Tyr25816=)
c.77307C= (p.Tyr25769=)
c.103350C= (p.Tyr34450=)
c.98748C= (p.Tyr32916=)
c.98745C= (p.Tyr32915=)
c.95787C= (p.Tyr31929=)
c.77403C= (p.Tyr25801=)
c.98898C= (p.Tyr32966=)
c.98895C= (p.Tyr32965=)
c.98328C= (p.Tyr32776=)
c.95670C= (p.Tyr31890=)
c.95589C= (p.Tyr31863=)
c.77352C= (p.Tyr25784=)
c.67206C= (p.Tyr22402=)
2g.178532158G>TCA349411687TTN,TTN-AS1c.96753C>A (p.Tyr32251Ter)
c.77838C>A (p.Tyr25946Ter)
c.77637C>A (p.Tyr25879Ter)
c.77262C>A (p.Tyr25754Ter)
c.104457C>A (p.Tyr34819Ter)
c.99534C>A (p.Tyr33178Ter)
n.446+8522G>T
n.220-3574G>T
c.103554C>A (p.Tyr34518Ter)
c.77448C>A (p.Tyr25816Ter)
c.77307C>A (p.Tyr25769Ter)
c.103350C>A (p.Tyr34450Ter)
c.98748C>A (p.Tyr32916Ter)
c.98745C>A (p.Tyr32915Ter)
c.95787C>A (p.Tyr31929Ter)
c.77403C>A (p.Tyr25801Ter)
c.98898C>A (p.Tyr32966Ter)
c.98895C>A (p.Tyr32965Ter)
c.98328C>A (p.Tyr32776Ter)
c.95670C>A (p.Tyr31890Ter)
c.95589C>A (p.Tyr31863Ter)
c.77352C>A (p.Tyr25784Ter)
c.67206C>A (p.Tyr22402Ter)
 ClinVar
2g.178532159T>ACA349411688TTN,TTN-AS1c.96752A>T (p.Tyr32251Phe)
c.77837A>T (p.Tyr25946Phe)
c.77636A>T (p.Tyr25879Phe)
c.77261A>T (p.Tyr25754Phe)
c.104456A>T (p.Tyr34819Phe)
c.99533A>T (p.Tyr33178Phe)
n.446+8523T>A
n.220-3573T>A
c.103553A>T (p.Tyr34518Phe)
c.77447A>T (p.Tyr25816Phe)
c.77306A>T (p.Tyr25769Phe)
c.103349A>T (p.Tyr34450Phe)
c.98747A>T (p.Tyr32916Phe)
c.98744A>T (p.Tyr32915Phe)
c.95786A>T (p.Tyr31929Phe)
c.77402A>T (p.Tyr25801Phe)
c.98897A>T (p.Tyr32966Phe)
c.98894A>T (p.Tyr32965Phe)
c.98327A>T (p.Tyr32776Phe)
c.95669A>T (p.Tyr31890Phe)
c.95588A>T (p.Tyr31863Phe)
c.77351A>T (p.Tyr25784Phe)
c.67205A>T (p.Tyr22402Phe)
2g.178532159T>CCA349411689TTN,TTN-AS1c.96752A>G (p.Tyr32251Cys)
c.77837A>G (p.Tyr25946Cys)
c.77636A>G (p.Tyr25879Cys)
c.77261A>G (p.Tyr25754Cys)
c.104456A>G (p.Tyr34819Cys)
c.99533A>G (p.Tyr33178Cys)
n.446+8523T>C
n.220-3573T>C
c.103553A>G (p.Tyr34518Cys)
c.77447A>G (p.Tyr25816Cys)
c.77306A>G (p.Tyr25769Cys)
c.103349A>G (p.Tyr34450Cys)
c.98747A>G (p.Tyr32916Cys)
c.98744A>G (p.Tyr32915Cys)
c.95786A>G (p.Tyr31929Cys)
c.77402A>G (p.Tyr25801Cys)
c.98897A>G (p.Tyr32966Cys)
c.98894A>G (p.Tyr32965Cys)
c.98327A>G (p.Tyr32776Cys)
c.95669A>G (p.Tyr31890Cys)
c.95588A>G (p.Tyr31863Cys)
c.77351A>G (p.Tyr25784Cys)
c.67205A>G (p.Tyr22402Cys)
2g.178532159T>GCA349411690TTN,TTN-AS1c.96752A>C (p.Tyr32251Ser)
c.77837A>C (p.Tyr25946Ser)
c.77636A>C (p.Tyr25879Ser)
c.77261A>C (p.Tyr25754Ser)
c.104456A>C (p.Tyr34819Ser)
c.99533A>C (p.Tyr33178Ser)
n.446+8523T>G
n.220-3573T>G
c.103553A>C (p.Tyr34518Ser)
c.77447A>C (p.Tyr25816Ser)
c.77306A>C (p.Tyr25769Ser)
c.103349A>C (p.Tyr34450Ser)
c.98747A>C (p.Tyr32916Ser)
c.98744A>C (p.Tyr32915Ser)
c.95786A>C (p.Tyr31929Ser)
c.77402A>C (p.Tyr25801Ser)
c.98897A>C (p.Tyr32966Ser)
c.98894A>C (p.Tyr32965Ser)
c.98327A>C (p.Tyr32776Ser)
c.95669A>C (p.Tyr31890Ser)
c.95588A>C (p.Tyr31863Ser)
c.77351A>C (p.Tyr25784Ser)
c.67205A>C (p.Tyr22402Ser)
2g.178532160A=CA1310518107TTN,TTN-AS1c.96751T= (p.Tyr32251=)
c.77836T= (p.Tyr25946=)
c.77635T= (p.Tyr25879=)
c.77260T= (p.Tyr25754=)
c.104455T= (p.Tyr34819=)
c.99532T= (p.Tyr33178=)
n.446+8524A=
n.220-3572A=
c.103552T= (p.Tyr34518=)
c.77446T= (p.Tyr25816=)
c.77305T= (p.Tyr25769=)
c.103348T= (p.Tyr34450=)
c.98746T= (p.Tyr32916=)
c.98743T= (p.Tyr32915=)
c.95785T= (p.Tyr31929=)
c.77401T= (p.Tyr25801=)
c.98896T= (p.Tyr32966=)
c.98893T= (p.Tyr32965=)
c.98326T= (p.Tyr32776=)
c.95668T= (p.Tyr31890=)
c.95587T= (p.Tyr31863=)
c.77350T= (p.Tyr25784=)
c.67204T= (p.Tyr22402=)
2g.178532160A>CCA349411691TTN,TTN-AS1c.96751T>G (p.Tyr32251Asp)
c.77836T>G (p.Tyr25946Asp)
c.77635T>G (p.Tyr25879Asp)
c.77260T>G (p.Tyr25754Asp)
c.104455T>G (p.Tyr34819Asp)
c.99532T>G (p.Tyr33178Asp)
n.446+8524A>C
n.220-3572A>C
c.103552T>G (p.Tyr34518Asp)
c.77446T>G (p.Tyr25816Asp)
c.77305T>G (p.Tyr25769Asp)
c.103348T>G (p.Tyr34450Asp)
c.98746T>G (p.Tyr32916Asp)
c.98743T>G (p.Tyr32915Asp)
c.95785T>G (p.Tyr31929Asp)
c.77401T>G (p.Tyr25801Asp)
c.98896T>G (p.Tyr32966Asp)
c.98893T>G (p.Tyr32965Asp)
c.98326T>G (p.Tyr32776Asp)
c.95668T>G (p.Tyr31890Asp)
c.95587T>G (p.Tyr31863Asp)
c.77350T>G (p.Tyr25784Asp)
c.67204T>G (p.Tyr22402Asp)
2g.178532160A>GCA1985424TTN,TTN-AS1c.96751T>C (p.Tyr32251His)
c.77836T>C (p.Tyr25946His)
c.77635T>C (p.Tyr25879His)
c.77260T>C (p.Tyr25754His)
c.104455T>C (p.Tyr34819His)
c.99532T>C (p.Tyr33178His)
n.446+8524A>G
n.220-3572A>G
c.103552T>C (p.Tyr34518His)
c.77446T>C (p.Tyr25816His)
c.77305T>C (p.Tyr25769His)
c.103348T>C (p.Tyr34450His)
c.98746T>C (p.Tyr32916His)
c.98743T>C (p.Tyr32915His)
c.95785T>C (p.Tyr31929His)
c.77401T>C (p.Tyr25801His)
c.98896T>C (p.Tyr32966His)
c.98893T>C (p.Tyr32965His)
c.98326T>C (p.Tyr32776His)
c.95668T>C (p.Tyr31890His)
c.95587T>C (p.Tyr31863His)
c.77350T>C (p.Tyr25784His)
c.67204T>C (p.Tyr22402His)
 ClinVar dbSNP ExAC gnomAD v4
2g.178532160A>TCA349411692TTN,TTN-AS1c.96751T>A (p.Tyr32251Asn)
c.77836T>A (p.Tyr25946Asn)
c.77635T>A (p.Tyr25879Asn)
c.77260T>A (p.Tyr25754Asn)
c.104455T>A (p.Tyr34819Asn)
c.99532T>A (p.Tyr33178Asn)
n.446+8524A>T
n.220-3572A>T
c.103552T>A (p.Tyr34518Asn)
c.77446T>A (p.Tyr25816Asn)
c.77305T>A (p.Tyr25769Asn)
c.103348T>A (p.Tyr34450Asn)
c.98746T>A (p.Tyr32916Asn)
c.98743T>A (p.Tyr32915Asn)
c.95785T>A (p.Tyr31929Asn)
c.77401T>A (p.Tyr25801Asn)
c.98896T>A (p.Tyr32966Asn)
c.98893T>A (p.Tyr32965Asn)
c.98326T>A (p.Tyr32776Asn)
c.95668T>A (p.Tyr31890Asn)
c.95587T>A (p.Tyr31863Asn)
c.77350T>A (p.Tyr25784Asn)
c.67204T>A (p.Tyr22402Asn)
2g.178532160_178532163delinsATTCCA1310518106TTN,TTN-AS1c.96748_96751delinsGAAT (p.Glu32250=)
c.77833_77836delinsGAAT (p.Glu25945=)
c.77632_77635delinsGAAT (p.Glu25878=)
c.77257_77260delinsGAAT (p.Glu25753=)
c.104452_104455delinsGAAT (p.Glu34818=)
c.99529_99532delinsGAAT (p.Glu33177=)
n.446+8524_446+8527delinsATTC
n.220-3572_220-3569delinsATTC
c.103549_103552delinsGAAT (p.Glu34517=)
c.77443_77446delinsGAAT (p.Glu25815=)
c.77302_77305delinsGAAT (p.Glu25768=)
c.103345_103348delinsGAAT (p.Glu34449=)
c.98743_98746delinsGAAT (p.Glu32915=)
c.98740_98743delinsGAAT (p.Glu32914=)
c.95782_95785delinsGAAT (p.Glu31928=)
c.77398_77401delinsGAAT (p.Glu25800=)
c.98893_98896delinsGAAT (p.Glu32965=)
c.98890_98893delinsGAAT (p.Glu32964=)
c.98323_98326delinsGAAT (p.Glu32775=)
c.95665_95668delinsGAAT (p.Glu31889=)
c.95584_95587delinsGAAT (p.Glu31862=)
c.77347_77350delinsGAAT (p.Glu25783=)
c.67201_67204delinsGAAT (p.Glu22401=)
2g.178532161T>ACA349411693TTN,TTN-AS1c.96750A>T (p.Glu32250Asp)
c.77835A>T (p.Glu25945Asp)
c.77634A>T (p.Glu25878Asp)
c.77259A>T (p.Glu25753Asp)
c.104454A>T (p.Glu34818Asp)
c.99531A>T (p.Glu33177Asp)
n.446+8525T>A
n.220-3571T>A
c.103551A>T (p.Glu34517Asp)
c.77445A>T (p.Glu25815Asp)
c.77304A>T (p.Glu25768Asp)
c.103347A>T (p.Glu34449Asp)
c.98745A>T (p.Glu32915Asp)
c.98742A>T (p.Glu32914Asp)
c.95784A>T (p.Glu31928Asp)
c.77400A>T (p.Glu25800Asp)
c.98895A>T (p.Glu32965Asp)
c.98892A>T (p.Glu32964Asp)
c.98325A>T (p.Glu32775Asp)
c.95667A>T (p.Glu31889Asp)
c.95586A>T (p.Glu31862Asp)
c.77349A>T (p.Glu25783Asp)
c.67203A>T (p.Glu22401Asp)
2g.178532161T>CCA430235902TTN,TTN-AS1c.96750A>G (p.Glu32250=)
c.77835A>G (p.Glu25945=)
c.77634A>G (p.Glu25878=)
c.77259A>G (p.Glu25753=)
c.104454A>G (p.Glu34818=)
c.99531A>G (p.Glu33177=)
n.446+8525T>C
n.220-3571T>C
c.103551A>G (p.Glu34517=)
c.77445A>G (p.Glu25815=)
c.77304A>G (p.Glu25768=)
c.103347A>G (p.Glu34449=)
c.98745A>G (p.Glu32915=)
c.98742A>G (p.Glu32914=)
c.95784A>G (p.Glu31928=)
c.77400A>G (p.Glu25800=)
c.98895A>G (p.Glu32965=)
c.98892A>G (p.Glu32964=)
c.98325A>G (p.Glu32775=)
c.95667A>G (p.Glu31889=)
c.95586A>G (p.Glu31862=)
c.77349A>G (p.Glu25783=)
c.67203A>G (p.Glu22401=)
2g.178532161T>GCA349411694TTN,TTN-AS1c.96750A>C (p.Glu32250Asp)
c.77835A>C (p.Glu25945Asp)
c.77634A>C (p.Glu25878Asp)
c.77259A>C (p.Glu25753Asp)
c.104454A>C (p.Glu34818Asp)
c.99531A>C (p.Glu33177Asp)
n.446+8525T>G
n.220-3571T>G
c.103551A>C (p.Glu34517Asp)
c.77445A>C (p.Glu25815Asp)
c.77304A>C (p.Glu25768Asp)
c.103347A>C (p.Glu34449Asp)
c.98745A>C (p.Glu32915Asp)
c.98742A>C (p.Glu32914Asp)
c.95784A>C (p.Glu31928Asp)
c.77400A>C (p.Glu25800Asp)
c.98895A>C (p.Glu32965Asp)
c.98892A>C (p.Glu32964Asp)
c.98325A>C (p.Glu32775Asp)
c.95667A>C (p.Glu31889Asp)
c.95586A>C (p.Glu31862Asp)
c.77349A>C (p.Glu25783Asp)
c.67203A>C (p.Glu22401Asp)
2g.178532164_178532166delCA1985425TTN,TTN-AS1c.96748_96750del (p.Glu32250del)
c.77833_77835del (p.Glu25945del)
c.77632_77634del (p.Glu25878del)
c.77257_77259del (p.Glu25753del)
c.104452_104454del (p.Glu34818del)
c.99529_99531del (p.Glu33177del)
n.446+8528_446+8530del
n.220-3568_220-3566del
c.103549_103551del (p.Glu34517del)
c.77443_77445del (p.Glu25815del)
c.77302_77304del (p.Glu25768del)
c.103345_103347del (p.Glu34449del)
c.98743_98745del (p.Glu32915del)
c.98740_98742del (p.Glu32914del)
c.95782_95784del (p.Glu31928del)
c.77398_77400del (p.Glu25800del)
c.98893_98895del (p.Glu32965del)
c.98890_98892del (p.Glu32964del)
c.98323_98325del (p.Glu32775del)
c.95665_95667del (p.Glu31889del)
c.95584_95586del (p.Glu31862del)
c.77347_77349del (p.Glu25783del)
c.67201_67203del (p.Glu22401del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532162T>ACA349411695TTN,TTN-AS1c.96749A>T (p.Glu32250Val)
c.77834A>T (p.Glu25945Val)
c.77633A>T (p.Glu25878Val)
c.77258A>T (p.Glu25753Val)
c.104453A>T (p.Glu34818Val)
c.99530A>T (p.Glu33177Val)
n.446+8526T>A
n.220-3570T>A
c.103550A>T (p.Glu34517Val)
c.77444A>T (p.Glu25815Val)
c.77303A>T (p.Glu25768Val)
c.103346A>T (p.Glu34449Val)
c.98744A>T (p.Glu32915Val)
c.98741A>T (p.Glu32914Val)
c.95783A>T (p.Glu31928Val)
c.77399A>T (p.Glu25800Val)
c.98894A>T (p.Glu32965Val)
c.98891A>T (p.Glu32964Val)
c.98324A>T (p.Glu32775Val)
c.95666A>T (p.Glu31889Val)
c.95585A>T (p.Glu31862Val)
c.77348A>T (p.Glu25783Val)
c.67202A>T (p.Glu22401Val)
2g.178532162T>CCA349411696TTN,TTN-AS1c.96749A>G (p.Glu32250Gly)
c.77834A>G (p.Glu25945Gly)
c.77633A>G (p.Glu25878Gly)
c.77258A>G (p.Glu25753Gly)
c.104453A>G (p.Glu34818Gly)
c.99530A>G (p.Glu33177Gly)
n.446+8526T>C
n.220-3570T>C
c.103550A>G (p.Glu34517Gly)
c.77444A>G (p.Glu25815Gly)
c.77303A>G (p.Glu25768Gly)
c.103346A>G (p.Glu34449Gly)
c.98744A>G (p.Glu32915Gly)
c.98741A>G (p.Glu32914Gly)
c.95783A>G (p.Glu31928Gly)
c.77399A>G (p.Glu25800Gly)
c.98894A>G (p.Glu32965Gly)
c.98891A>G (p.Glu32964Gly)
c.98324A>G (p.Glu32775Gly)
c.95666A>G (p.Glu31889Gly)
c.95585A>G (p.Glu31862Gly)
c.77348A>G (p.Glu25783Gly)
c.67202A>G (p.Glu22401Gly)
 gnomAD v4
2g.178532162T>GCA349411698TTN,TTN-AS1c.96749A>C (p.Glu32250Ala)
c.77834A>C (p.Glu25945Ala)
c.77633A>C (p.Glu25878Ala)
c.77258A>C (p.Glu25753Ala)
c.104453A>C (p.Glu34818Ala)
c.99530A>C (p.Glu33177Ala)
n.446+8526T>G
n.220-3570T>G
c.103550A>C (p.Glu34517Ala)
c.77444A>C (p.Glu25815Ala)
c.77303A>C (p.Glu25768Ala)
c.103346A>C (p.Glu34449Ala)
c.98744A>C (p.Glu32915Ala)
c.98741A>C (p.Glu32914Ala)
c.95783A>C (p.Glu31928Ala)
c.77399A>C (p.Glu25800Ala)
c.98894A>C (p.Glu32965Ala)
c.98891A>C (p.Glu32964Ala)
c.98324A>C (p.Glu32775Ala)
c.95666A>C (p.Glu31889Ala)
c.95585A>C (p.Glu31862Ala)
c.77348A>C (p.Glu25783Ala)
c.67202A>C (p.Glu22401Ala)
2g.178532163C>ACA349411699TTN,TTN-AS1c.96748G>T (p.Glu32250Ter)
c.77833G>T (p.Glu25945Ter)
c.77632G>T (p.Glu25878Ter)
c.77257G>T (p.Glu25753Ter)
c.104452G>T (p.Glu34818Ter)
c.99529G>T (p.Glu33177Ter)
n.446+8527C>A
n.220-3569C>A
c.103549G>T (p.Glu34517Ter)
c.77443G>T (p.Glu25815Ter)
c.77302G>T (p.Glu25768Ter)
c.103345G>T (p.Glu34449Ter)
c.98743G>T (p.Glu32915Ter)
c.98740G>T (p.Glu32914Ter)
c.95782G>T (p.Glu31928Ter)
c.77398G>T (p.Glu25800Ter)
c.98893G>T (p.Glu32965Ter)
c.98890G>T (p.Glu32964Ter)
c.98323G>T (p.Glu32775Ter)
c.95665G>T (p.Glu31889Ter)
c.95584G>T (p.Glu31862Ter)
c.77347G>T (p.Glu25783Ter)
c.67201G>T (p.Glu22401Ter)
2g.178532163C>GCA349411700TTN,TTN-AS1c.96748G>C (p.Glu32250Gln)
c.77833G>C (p.Glu25945Gln)
c.77632G>C (p.Glu25878Gln)
c.77257G>C (p.Glu25753Gln)
c.104452G>C (p.Glu34818Gln)
c.99529G>C (p.Glu33177Gln)
n.446+8527C>G
n.220-3569C>G
c.103549G>C (p.Glu34517Gln)
c.77443G>C (p.Glu25815Gln)
c.77302G>C (p.Glu25768Gln)
c.103345G>C (p.Glu34449Gln)
c.98743G>C (p.Glu32915Gln)
c.98740G>C (p.Glu32914Gln)
c.95782G>C (p.Glu31928Gln)
c.77398G>C (p.Glu25800Gln)
c.98893G>C (p.Glu32965Gln)
c.98890G>C (p.Glu32964Gln)
c.98323G>C (p.Glu32775Gln)
c.95665G>C (p.Glu31889Gln)
c.95584G>C (p.Glu31862Gln)
c.77347G>C (p.Glu25783Gln)
c.67201G>C (p.Glu22401Gln)
2g.178532163C>TCA349411701TTN,TTN-AS1c.96748G>A (p.Glu32250Lys)
c.77833G>A (p.Glu25945Lys)
c.77632G>A (p.Glu25878Lys)
c.77257G>A (p.Glu25753Lys)
c.104452G>A (p.Glu34818Lys)
c.99529G>A (p.Glu33177Lys)
n.446+8527C>T
n.220-3569C>T
c.103549G>A (p.Glu34517Lys)
c.77443G>A (p.Glu25815Lys)
c.77302G>A (p.Glu25768Lys)
c.103345G>A (p.Glu34449Lys)
c.98743G>A (p.Glu32915Lys)
c.98740G>A (p.Glu32914Lys)
c.95782G>A (p.Glu31928Lys)
c.77398G>A (p.Glu25800Lys)
c.98893G>A (p.Glu32965Lys)
c.98890G>A (p.Glu32964Lys)
c.98323G>A (p.Glu32775Lys)
c.95665G>A (p.Glu31889Lys)
c.95584G>A (p.Glu31862Lys)
c.77347G>A (p.Glu25783Lys)
c.67201G>A (p.Glu22401Lys)
2g.178532164T>ACA349411702TTN,TTN-AS1c.96747A>T (p.Glu32249Asp)
c.77832A>T (p.Glu25944Asp)
c.77631A>T (p.Glu25877Asp)
c.77256A>T (p.Glu25752Asp)
c.104451A>T (p.Glu34817Asp)
c.99528A>T (p.Glu33176Asp)
n.446+8528T>A
n.220-3568T>A
c.103548A>T (p.Glu34516Asp)
c.77442A>T (p.Glu25814Asp)
c.77301A>T (p.Glu25767Asp)
c.103344A>T (p.Glu34448Asp)
c.98742A>T (p.Glu32914Asp)
c.98739A>T (p.Glu32913Asp)
c.95781A>T (p.Glu31927Asp)
c.77397A>T (p.Glu25799Asp)
c.98892A>T (p.Glu32964Asp)
c.98889A>T (p.Glu32963Asp)
c.98322A>T (p.Glu32774Asp)
c.95664A>T (p.Glu31888Asp)
c.95583A>T (p.Glu31861Asp)
c.77346A>T (p.Glu25782Asp)
c.67200A>T (p.Glu22400Asp)
2g.178532164T>CCA430235903TTN,TTN-AS1c.96747A>G (p.Glu32249=)
c.77832A>G (p.Glu25944=)
c.77631A>G (p.Glu25877=)
c.77256A>G (p.Glu25752=)
c.104451A>G (p.Glu34817=)
c.99528A>G (p.Glu33176=)
n.446+8528T>C
n.220-3568T>C
c.103548A>G (p.Glu34516=)
c.77442A>G (p.Glu25814=)
c.77301A>G (p.Glu25767=)
c.103344A>G (p.Glu34448=)
c.98742A>G (p.Glu32914=)
c.98739A>G (p.Glu32913=)
c.95781A>G (p.Glu31927=)
c.77397A>G (p.Glu25799=)
c.98892A>G (p.Glu32964=)
c.98889A>G (p.Glu32963=)
c.98322A>G (p.Glu32774=)
c.95664A>G (p.Glu31888=)
c.95583A>G (p.Glu31861=)
c.77346A>G (p.Glu25782=)
c.67200A>G (p.Glu22400=)
2g.178532164T>GCA349411703TTN,TTN-AS1c.96747A>C (p.Glu32249Asp)
c.77832A>C (p.Glu25944Asp)
c.77631A>C (p.Glu25877Asp)
c.77256A>C (p.Glu25752Asp)
c.104451A>C (p.Glu34817Asp)
c.99528A>C (p.Glu33176Asp)
n.446+8528T>G
n.220-3568T>G
c.103548A>C (p.Glu34516Asp)
c.77442A>C (p.Glu25814Asp)
c.77301A>C (p.Glu25767Asp)
c.103344A>C (p.Glu34448Asp)
c.98742A>C (p.Glu32914Asp)
c.98739A>C (p.Glu32913Asp)
c.95781A>C (p.Glu31927Asp)
c.77397A>C (p.Glu25799Asp)
c.98892A>C (p.Glu32964Asp)
c.98889A>C (p.Glu32963Asp)
c.98322A>C (p.Glu32774Asp)
c.95664A>C (p.Glu31888Asp)
c.95583A>C (p.Glu31861Asp)
c.77346A>C (p.Glu25782Asp)
c.67200A>C (p.Glu22400Asp)
2g.178532165T>ACA349411704TTN,TTN-AS1c.96746A>T (p.Glu32249Val)
c.77831A>T (p.Glu25944Val)
c.77630A>T (p.Glu25877Val)
c.77255A>T (p.Glu25752Val)
c.104450A>T (p.Glu34817Val)
c.99527A>T (p.Glu33176Val)
n.446+8529T>A
n.220-3567T>A
c.103547A>T (p.Glu34516Val)
c.77441A>T (p.Glu25814Val)
c.77300A>T (p.Glu25767Val)
c.103343A>T (p.Glu34448Val)
c.98741A>T (p.Glu32914Val)
c.98738A>T (p.Glu32913Val)
c.95780A>T (p.Glu31927Val)
c.77396A>T (p.Glu25799Val)
c.98891A>T (p.Glu32964Val)
c.98888A>T (p.Glu32963Val)
c.98321A>T (p.Glu32774Val)
c.95663A>T (p.Glu31888Val)
c.95582A>T (p.Glu31861Val)
c.77345A>T (p.Glu25782Val)
c.67199A>T (p.Glu22400Val)
2g.178532165T>CCA349411706TTN,TTN-AS1c.96746A>G (p.Glu32249Gly)
c.77831A>G (p.Glu25944Gly)
c.77630A>G (p.Glu25877Gly)
c.77255A>G (p.Glu25752Gly)
c.104450A>G (p.Glu34817Gly)
c.99527A>G (p.Glu33176Gly)
n.446+8529T>C
n.220-3567T>C
c.103547A>G (p.Glu34516Gly)
c.77441A>G (p.Glu25814Gly)
c.77300A>G (p.Glu25767Gly)
c.103343A>G (p.Glu34448Gly)
c.98741A>G (p.Glu32914Gly)
c.98738A>G (p.Glu32913Gly)
c.95780A>G (p.Glu31927Gly)
c.77396A>G (p.Glu25799Gly)
c.98891A>G (p.Glu32964Gly)
c.98888A>G (p.Glu32963Gly)
c.98321A>G (p.Glu32774Gly)
c.95663A>G (p.Glu31888Gly)
c.95582A>G (p.Glu31861Gly)
c.77345A>G (p.Glu25782Gly)
c.67199A>G (p.Glu22400Gly)
 ClinVar
2g.178532165T>GCA349411705TTN,TTN-AS1c.96746A>C (p.Glu32249Ala)
c.77831A>C (p.Glu25944Ala)
c.77630A>C (p.Glu25877Ala)
c.77255A>C (p.Glu25752Ala)
c.104450A>C (p.Glu34817Ala)
c.99527A>C (p.Glu33176Ala)
n.446+8529T>G
n.220-3567T>G
c.103547A>C (p.Glu34516Ala)
c.77441A>C (p.Glu25814Ala)
c.77300A>C (p.Glu25767Ala)
c.103343A>C (p.Glu34448Ala)
c.98741A>C (p.Glu32914Ala)
c.98738A>C (p.Glu32913Ala)
c.95780A>C (p.Glu31927Ala)
c.77396A>C (p.Glu25799Ala)
c.98891A>C (p.Glu32964Ala)
c.98888A>C (p.Glu32963Ala)
c.98321A>C (p.Glu32774Ala)
c.95663A>C (p.Glu31888Ala)
c.95582A>C (p.Glu31861Ala)
c.77345A>C (p.Glu25782Ala)
c.67199A>C (p.Glu22400Ala)
2g.178532167_178532169dupCA2740095956TTN,TTN-AS1c.96744_96746dup (p.Glu32249_Glu32250insGlu)
c.77829_77831dup (p.Glu25944_Glu25945insGlu)
c.77628_77630dup (p.Glu25877_Glu25878insGlu)
c.77253_77255dup (p.Glu25752_Glu25753insGlu)
c.104448_104450dup (p.Glu34817_Glu34818insGlu)
c.99525_99527dup (p.Glu33176_Glu33177insGlu)
n.446+8531_446+8533dup
n.220-3565_220-3563dup
c.103545_103547dup (p.Glu34516_Glu34517insGlu)
c.77439_77441dup (p.Glu25814_Glu25815insGlu)
c.77298_77300dup (p.Glu25767_Glu25768insGlu)
c.103341_103343dup (p.Glu34448_Glu34449insGlu)
c.98739_98741dup (p.Glu32914_Glu32915insGlu)
c.98736_98738dup (p.Glu32913_Glu32914insGlu)
c.95778_95780dup (p.Glu31927_Glu31928insGlu)
c.77394_77396dup (p.Glu25799_Glu25800insGlu)
c.98889_98891dup (p.Glu32964_Glu32965insGlu)
c.98886_98888dup (p.Glu32963_Glu32964insGlu)
c.98319_98321dup (p.Glu32774_Glu32775insGlu)
c.95661_95663dup (p.Glu31888_Glu31889insGlu)
c.95580_95582dup (p.Glu31861_Glu31862insGlu)
c.77343_77345dup (p.Glu25782_Glu25783insGlu)
c.67197_67199dup (p.Glu22400_Glu22401insGlu)
 ClinVar
2g.178532166C>ACA349411707TTN,TTN-AS1c.96745G>T (p.Glu32249Ter)
c.77830G>T (p.Glu25944Ter)
c.77629G>T (p.Glu25877Ter)
c.77254G>T (p.Glu25752Ter)
c.104449G>T (p.Glu34817Ter)
c.99526G>T (p.Glu33176Ter)
n.446+8530C>A
n.220-3566C>A
c.103546G>T (p.Glu34516Ter)
c.77440G>T (p.Glu25814Ter)
c.77299G>T (p.Glu25767Ter)
c.103342G>T (p.Glu34448Ter)
c.98740G>T (p.Glu32914Ter)
c.98737G>T (p.Glu32913Ter)
c.95779G>T (p.Glu31927Ter)
c.77395G>T (p.Glu25799Ter)
c.98890G>T (p.Glu32964Ter)
c.98887G>T (p.Glu32963Ter)
c.98320G>T (p.Glu32774Ter)
c.95662G>T (p.Glu31888Ter)
c.95581G>T (p.Glu31861Ter)
c.77344G>T (p.Glu25782Ter)
c.67198G>T (p.Glu22400Ter)
2g.178532166C=CA1310518108TTN,TTN-AS1c.96745G= (p.Glu32249=)
c.77830G= (p.Glu25944=)
c.77629G= (p.Glu25877=)
c.77254G= (p.Glu25752=)
c.104449G= (p.Glu34817=)
c.99526G= (p.Glu33176=)
n.446+8530C=
n.220-3566C=
c.103546G= (p.Glu34516=)
c.77440G= (p.Glu25814=)
c.77299G= (p.Glu25767=)
c.103342G= (p.Glu34448=)
c.98740G= (p.Glu32914=)
c.98737G= (p.Glu32913=)
c.95779G= (p.Glu31927=)
c.77395G= (p.Glu25799=)
c.98890G= (p.Glu32964=)
c.98887G= (p.Glu32963=)
c.98320G= (p.Glu32774=)
c.95662G= (p.Glu31888=)
c.95581G= (p.Glu31861=)
c.77344G= (p.Glu25782=)
c.67198G= (p.Glu22400=)
2g.178532166C>GCA349411709TTN,TTN-AS1c.96745G>C (p.Glu32249Gln)
c.77830G>C (p.Glu25944Gln)
c.77629G>C (p.Glu25877Gln)
c.77254G>C (p.Glu25752Gln)
c.104449G>C (p.Glu34817Gln)
c.99526G>C (p.Glu33176Gln)
n.446+8530C>G
n.220-3566C>G
c.103546G>C (p.Glu34516Gln)
c.77440G>C (p.Glu25814Gln)
c.77299G>C (p.Glu25767Gln)
c.103342G>C (p.Glu34448Gln)
c.98740G>C (p.Glu32914Gln)
c.98737G>C (p.Glu32913Gln)
c.95779G>C (p.Glu31927Gln)
c.77395G>C (p.Glu25799Gln)
c.98890G>C (p.Glu32964Gln)
c.98887G>C (p.Glu32963Gln)
c.98320G>C (p.Glu32774Gln)
c.95662G>C (p.Glu31888Gln)
c.95581G>C (p.Glu31861Gln)
c.77344G>C (p.Glu25782Gln)
c.67198G>C (p.Glu22400Gln)
2g.178532166C>TCA349411708TTN,TTN-AS1c.96745G>A (p.Glu32249Lys)
c.77830G>A (p.Glu25944Lys)
c.77629G>A (p.Glu25877Lys)
c.77254G>A (p.Glu25752Lys)
c.104449G>A (p.Glu34817Lys)
c.99526G>A (p.Glu33176Lys)
n.446+8530C>T
n.220-3566C>T
c.103546G>A (p.Glu34516Lys)
c.77440G>A (p.Glu25814Lys)
c.77299G>A (p.Glu25767Lys)
c.103342G>A (p.Glu34448Lys)
c.98740G>A (p.Glu32914Lys)
c.98737G>A (p.Glu32913Lys)
c.95779G>A (p.Glu31927Lys)
c.77395G>A (p.Glu25799Lys)
c.98890G>A (p.Glu32964Lys)
c.98887G>A (p.Glu32963Lys)
c.98320G>A (p.Glu32774Lys)
c.95662G>A (p.Glu31888Lys)
c.95581G>A (p.Glu31861Lys)
c.77344G>A (p.Glu25782Lys)
c.67198G>A (p.Glu22400Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532167C>ACA349411710TTN,TTN-AS1c.96744G>T (p.Glu32248Asp)
c.77829G>T (p.Glu25943Asp)
c.77628G>T (p.Glu25876Asp)
c.77253G>T (p.Glu25751Asp)
c.104448G>T (p.Glu34816Asp)
c.99525G>T (p.Glu33175Asp)
n.446+8531C>A
n.220-3565C>A
c.103545G>T (p.Glu34515Asp)
c.77439G>T (p.Glu25813Asp)
c.77298G>T (p.Glu25766Asp)
c.103341G>T (p.Glu34447Asp)
c.98739G>T (p.Glu32913Asp)
c.98736G>T (p.Glu32912Asp)
c.95778G>T (p.Glu31926Asp)
c.77394G>T (p.Glu25798Asp)
c.98889G>T (p.Glu32963Asp)
c.98886G>T (p.Glu32962Asp)
c.98319G>T (p.Glu32773Asp)
c.95661G>T (p.Glu31887Asp)
c.95580G>T (p.Glu31860Asp)
c.77343G>T (p.Glu25781Asp)
c.67197G>T (p.Glu22399Asp)
2g.178532167C=CA1310518109TTN,TTN-AS1c.96744G= (p.Glu32248=)
c.77829G= (p.Glu25943=)
c.77628G= (p.Glu25876=)
c.77253G= (p.Glu25751=)
c.104448G= (p.Glu34816=)
c.99525G= (p.Glu33175=)
n.446+8531C=
n.220-3565C=
c.103545G= (p.Glu34515=)
c.77439G= (p.Glu25813=)
c.77298G= (p.Glu25766=)
c.103341G= (p.Glu34447=)
c.98739G= (p.Glu32913=)
c.98736G= (p.Glu32912=)
c.95778G= (p.Glu31926=)
c.77394G= (p.Glu25798=)
c.98889G= (p.Glu32963=)
c.98886G= (p.Glu32962=)
c.98319G= (p.Glu32773=)
c.95661G= (p.Glu31887=)
c.95580G= (p.Glu31860=)
c.77343G= (p.Glu25781=)
c.67197G= (p.Glu22399=)
2g.178532167C>GCA349411711TTN,TTN-AS1c.96744G>C (p.Glu32248Asp)
c.77829G>C (p.Glu25943Asp)
c.77628G>C (p.Glu25876Asp)
c.77253G>C (p.Glu25751Asp)
c.104448G>C (p.Glu34816Asp)
c.99525G>C (p.Glu33175Asp)
n.446+8531C>G
n.220-3565C>G
c.103545G>C (p.Glu34515Asp)
c.77439G>C (p.Glu25813Asp)
c.77298G>C (p.Glu25766Asp)
c.103341G>C (p.Glu34447Asp)
c.98739G>C (p.Glu32913Asp)
c.98736G>C (p.Glu32912Asp)
c.95778G>C (p.Glu31926Asp)
c.77394G>C (p.Glu25798Asp)
c.98889G>C (p.Glu32963Asp)
c.98886G>C (p.Glu32962Asp)
c.98319G>C (p.Glu32773Asp)
c.95661G>C (p.Glu31887Asp)
c.95580G>C (p.Glu31860Asp)
c.77343G>C (p.Glu25781Asp)
c.67197G>C (p.Glu22399Asp)
 ClinVar dbSNP
2g.178532167C>TCA430235904TTN,TTN-AS1c.96744G>A (p.Glu32248=)
c.77829G>A (p.Glu25943=)
c.77628G>A (p.Glu25876=)
c.77253G>A (p.Glu25751=)
c.104448G>A (p.Glu34816=)
c.99525G>A (p.Glu33175=)
n.446+8531C>T
n.220-3565C>T
c.103545G>A (p.Glu34515=)
c.77439G>A (p.Glu25813=)
c.77298G>A (p.Glu25766=)
c.103341G>A (p.Glu34447=)
c.98739G>A (p.Glu32913=)
c.98736G>A (p.Glu32912=)
c.95778G>A (p.Glu31926=)
c.77394G>A (p.Glu25798=)
c.98889G>A (p.Glu32963=)
c.98886G>A (p.Glu32962=)
c.98319G>A (p.Glu32773=)
c.95661G>A (p.Glu31887=)
c.95580G>A (p.Glu31860=)
c.77343G>A (p.Glu25781=)
c.67197G>A (p.Glu22399=)
2g.178532168T>ACA349411712TTN,TTN-AS1c.96743A>T (p.Glu32248Val)
c.77828A>T (p.Glu25943Val)
c.77627A>T (p.Glu25876Val)
c.77252A>T (p.Glu25751Val)
c.104447A>T (p.Glu34816Val)
c.99524A>T (p.Glu33175Val)
n.446+8532T>A
n.220-3564T>A
c.103544A>T (p.Glu34515Val)
c.77438A>T (p.Glu25813Val)
c.77297A>T (p.Glu25766Val)
c.103340A>T (p.Glu34447Val)
c.98738A>T (p.Glu32913Val)
c.98735A>T (p.Glu32912Val)
c.95777A>T (p.Glu31926Val)
c.77393A>T (p.Glu25798Val)
c.98888A>T (p.Glu32963Val)
c.98885A>T (p.Glu32962Val)
c.98318A>T (p.Glu32773Val)
c.95660A>T (p.Glu31887Val)
c.95579A>T (p.Glu31860Val)
c.77342A>T (p.Glu25781Val)
c.67196A>T (p.Glu22399Val)
2g.178532168T>CCA1985426TTN,TTN-AS1c.96743A>G (p.Glu32248Gly)
c.77828A>G (p.Glu25943Gly)
c.77627A>G (p.Glu25876Gly)
c.77252A>G (p.Glu25751Gly)
c.104447A>G (p.Glu34816Gly)
c.99524A>G (p.Glu33175Gly)
n.446+8532T>C
n.220-3564T>C
c.103544A>G (p.Glu34515Gly)
c.77438A>G (p.Glu25813Gly)
c.77297A>G (p.Glu25766Gly)
c.103340A>G (p.Glu34447Gly)
c.98738A>G (p.Glu32913Gly)
c.98735A>G (p.Glu32912Gly)
c.95777A>G (p.Glu31926Gly)
c.77393A>G (p.Glu25798Gly)
c.98888A>G (p.Glu32963Gly)
c.98885A>G (p.Glu32962Gly)
c.98318A>G (p.Glu32773Gly)
c.95660A>G (p.Glu31887Gly)
c.95579A>G (p.Glu31860Gly)
c.77342A>G (p.Glu25781Gly)
c.67196A>G (p.Glu22399Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532168T>GCA349411713TTN,TTN-AS1c.96743A>C (p.Glu32248Ala)
c.77828A>C (p.Glu25943Ala)
c.77627A>C (p.Glu25876Ala)
c.77252A>C (p.Glu25751Ala)
c.104447A>C (p.Glu34816Ala)
c.99524A>C (p.Glu33175Ala)
n.446+8532T>G
n.220-3564T>G
c.103544A>C (p.Glu34515Ala)
c.77438A>C (p.Glu25813Ala)
c.77297A>C (p.Glu25766Ala)
c.103340A>C (p.Glu34447Ala)
c.98738A>C (p.Glu32913Ala)
c.98735A>C (p.Glu32912Ala)
c.95777A>C (p.Glu31926Ala)
c.77393A>C (p.Glu25798Ala)
c.98888A>C (p.Glu32963Ala)
c.98885A>C (p.Glu32962Ala)
c.98318A>C (p.Glu32773Ala)
c.95660A>C (p.Glu31887Ala)
c.95579A>C (p.Glu31860Ala)
c.77342A>C (p.Glu25781Ala)
c.67196A>C (p.Glu22399Ala)
2g.178532168T=CA1310518110TTN,TTN-AS1c.96743A= (p.Glu32248=)
c.77828A= (p.Glu25943=)
c.77627A= (p.Glu25876=)
c.77252A= (p.Glu25751=)
c.104447A= (p.Glu34816=)
c.99524A= (p.Glu33175=)
n.446+8532T=
n.220-3564T=
c.103544A= (p.Glu34515=)
c.77438A= (p.Glu25813=)
c.77297A= (p.Glu25766=)
c.103340A= (p.Glu34447=)
c.98738A= (p.Glu32913=)
c.98735A= (p.Glu32912=)
c.95777A= (p.Glu31926=)
c.77393A= (p.Glu25798=)
c.98888A= (p.Glu32963=)
c.98885A= (p.Glu32962=)
c.98318A= (p.Glu32773=)
c.95660A= (p.Glu31887=)
c.95579A= (p.Glu31860=)
c.77342A= (p.Glu25781=)
c.67196A= (p.Glu22399=)
2g.178532169C>ACA349411714TTN,TTN-AS1c.96742G>T (p.Glu32248Ter)
c.77827G>T (p.Glu25943Ter)
c.77626G>T (p.Glu25876Ter)
c.77251G>T (p.Glu25751Ter)
c.104446G>T (p.Glu34816Ter)
c.99523G>T (p.Glu33175Ter)
n.446+8533C>A
n.220-3563C>A
c.103543G>T (p.Glu34515Ter)
c.77437G>T (p.Glu25813Ter)
c.77296G>T (p.Glu25766Ter)
c.103339G>T (p.Glu34447Ter)
c.98737G>T (p.Glu32913Ter)
c.98734G>T (p.Glu32912Ter)
c.95776G>T (p.Glu31926Ter)
c.77392G>T (p.Glu25798Ter)
c.98887G>T (p.Glu32963Ter)
c.98884G>T (p.Glu32962Ter)
c.98317G>T (p.Glu32773Ter)
c.95659G>T (p.Glu31887Ter)
c.95578G>T (p.Glu31860Ter)
c.77341G>T (p.Glu25781Ter)
c.67195G>T (p.Glu22399Ter)
2g.178532169C>GCA349411715TTN,TTN-AS1c.96742G>C (p.Glu32248Gln)
c.77827G>C (p.Glu25943Gln)
c.77626G>C (p.Glu25876Gln)
c.77251G>C (p.Glu25751Gln)
c.104446G>C (p.Glu34816Gln)
c.99523G>C (p.Glu33175Gln)
n.446+8533C>G
n.220-3563C>G
c.103543G>C (p.Glu34515Gln)
c.77437G>C (p.Glu25813Gln)
c.77296G>C (p.Glu25766Gln)
c.103339G>C (p.Glu34447Gln)
c.98737G>C (p.Glu32913Gln)
c.98734G>C (p.Glu32912Gln)
c.95776G>C (p.Glu31926Gln)
c.77392G>C (p.Glu25798Gln)
c.98887G>C (p.Glu32963Gln)
c.98884G>C (p.Glu32962Gln)
c.98317G>C (p.Glu32773Gln)
c.95659G>C (p.Glu31887Gln)
c.95578G>C (p.Glu31860Gln)
c.77341G>C (p.Glu25781Gln)
c.67195G>C (p.Glu22399Gln)
2g.178532169C>TCA349411716TTN,TTN-AS1c.96742G>A (p.Glu32248Lys)
c.77827G>A (p.Glu25943Lys)
c.77626G>A (p.Glu25876Lys)
c.77251G>A (p.Glu25751Lys)
c.104446G>A (p.Glu34816Lys)
c.99523G>A (p.Glu33175Lys)
n.446+8533C>T
n.220-3563C>T
c.103543G>A (p.Glu34515Lys)
c.77437G>A (p.Glu25813Lys)
c.77296G>A (p.Glu25766Lys)
c.103339G>A (p.Glu34447Lys)
c.98737G>A (p.Glu32913Lys)
c.98734G>A (p.Glu32912Lys)
c.95776G>A (p.Glu31926Lys)
c.77392G>A (p.Glu25798Lys)
c.98887G>A (p.Glu32963Lys)
c.98884G>A (p.Glu32962Lys)
c.98317G>A (p.Glu32773Lys)
c.95659G>A (p.Glu31887Lys)
c.95578G>A (p.Glu31860Lys)
c.77341G>A (p.Glu25781Lys)
c.67195G>A (p.Glu22399Lys)
 dbSNP gnomAD v4
2g.178532170A>CCA349411717TTN,TTN-AS1c.96741T>G (p.Ile32247Met)
c.77826T>G (p.Ile25942Met)
c.77625T>G (p.Ile25875Met)
c.77250T>G (p.Ile25750Met)
c.104445T>G (p.Ile34815Met)
c.99522T>G (p.Ile33174Met)
n.446+8534A>C
n.220-3562A>C
c.103542T>G (p.Ile34514Met)
c.77436T>G (p.Ile25812Met)
c.77295T>G (p.Ile25765Met)
c.103338T>G (p.Ile34446Met)
c.98736T>G (p.Ile32912Met)
c.98733T>G (p.Ile32911Met)
c.95775T>G (p.Ile31925Met)
c.77391T>G (p.Ile25797Met)
c.98886T>G (p.Ile32962Met)
c.98883T>G (p.Ile32961Met)
c.98316T>G (p.Ile32772Met)
c.95658T>G (p.Ile31886Met)
c.95577T>G (p.Ile31859Met)
c.77340T>G (p.Ile25780Met)
c.67194T>G (p.Ile22398Met)
2g.178532170A>GCA430235905TTN,TTN-AS1c.96741T>C (p.Ile32247=)
c.77826T>C (p.Ile25942=)
c.77625T>C (p.Ile25875=)
c.77250T>C (p.Ile25750=)
c.104445T>C (p.Ile34815=)
c.99522T>C (p.Ile33174=)
n.446+8534A>G
n.220-3562A>G
c.103542T>C (p.Ile34514=)
c.77436T>C (p.Ile25812=)
c.77295T>C (p.Ile25765=)
c.103338T>C (p.Ile34446=)
c.98736T>C (p.Ile32912=)
c.98733T>C (p.Ile32911=)
c.95775T>C (p.Ile31925=)
c.77391T>C (p.Ile25797=)
c.98886T>C (p.Ile32962=)
c.98883T>C (p.Ile32961=)
c.98316T>C (p.Ile32772=)
c.95658T>C (p.Ile31886=)
c.95577T>C (p.Ile31859=)
c.77340T>C (p.Ile25780=)
c.67194T>C (p.Ile22398=)
2g.178532170A>TCA430235906TTN,TTN-AS1c.96741T>A (p.Ile32247=)
c.77826T>A (p.Ile25942=)
c.77625T>A (p.Ile25875=)
c.77250T>A (p.Ile25750=)
c.104445T>A (p.Ile34815=)
c.99522T>A (p.Ile33174=)
n.446+8534A>T
n.220-3562A>T
c.103542T>A (p.Ile34514=)
c.77436T>A (p.Ile25812=)
c.77295T>A (p.Ile25765=)
c.103338T>A (p.Ile34446=)
c.98736T>A (p.Ile32912=)
c.98733T>A (p.Ile32911=)
c.95775T>A (p.Ile31925=)
c.77391T>A (p.Ile25797=)
c.98886T>A (p.Ile32962=)
c.98883T>A (p.Ile32961=)
c.98316T>A (p.Ile32772=)
c.95658T>A (p.Ile31886=)
c.95577T>A (p.Ile31859=)
c.77340T>A (p.Ile25780=)
c.67194T>A (p.Ile22398=)
2g.178532171A=CA1310518111TTN,TTN-AS1c.96740T= (p.Ile32247=)
c.77825T= (p.Ile25942=)
c.77624T= (p.Ile25875=)
c.77249T= (p.Ile25750=)
c.104444T= (p.Ile34815=)
c.99521T= (p.Ile33174=)
n.446+8535A=
n.220-3561A=
c.103541T= (p.Ile34514=)
c.77435T= (p.Ile25812=)
c.77294T= (p.Ile25765=)
c.103337T= (p.Ile34446=)
c.98735T= (p.Ile32912=)
c.98732T= (p.Ile32911=)
c.95774T= (p.Ile31925=)
c.77390T= (p.Ile25797=)
c.98885T= (p.Ile32962=)
c.98882T= (p.Ile32961=)
c.98315T= (p.Ile32772=)
c.95657T= (p.Ile31886=)
c.95576T= (p.Ile31859=)
c.77339T= (p.Ile25780=)
c.67193T= (p.Ile22398=)
2g.178532171A>CCA349411718TTN,TTN-AS1c.96740T>G (p.Ile32247Ser)
c.77825T>G (p.Ile25942Ser)
c.77624T>G (p.Ile25875Ser)
c.77249T>G (p.Ile25750Ser)
c.104444T>G (p.Ile34815Ser)
c.99521T>G (p.Ile33174Ser)
n.446+8535A>C
n.220-3561A>C
c.103541T>G (p.Ile34514Ser)
c.77435T>G (p.Ile25812Ser)
c.77294T>G (p.Ile25765Ser)
c.103337T>G (p.Ile34446Ser)
c.98735T>G (p.Ile32912Ser)
c.98732T>G (p.Ile32911Ser)
c.95774T>G (p.Ile31925Ser)
c.77390T>G (p.Ile25797Ser)
c.98885T>G (p.Ile32962Ser)
c.98882T>G (p.Ile32961Ser)
c.98315T>G (p.Ile32772Ser)
c.95657T>G (p.Ile31886Ser)
c.95576T>G (p.Ile31859Ser)
c.77339T>G (p.Ile25780Ser)
c.67193T>G (p.Ile22398Ser)
2g.178532171A>GCA60956221TTN,TTN-AS1c.96740T>C (p.Ile32247Thr)
c.77825T>C (p.Ile25942Thr)
c.77624T>C (p.Ile25875Thr)
c.77249T>C (p.Ile25750Thr)
c.104444T>C (p.Ile34815Thr)
c.99521T>C (p.Ile33174Thr)
n.446+8535A>G
n.220-3561A>G
c.103541T>C (p.Ile34514Thr)
c.77435T>C (p.Ile25812Thr)
c.77294T>C (p.Ile25765Thr)
c.103337T>C (p.Ile34446Thr)
c.98735T>C (p.Ile32912Thr)
c.98732T>C (p.Ile32911Thr)
c.95774T>C (p.Ile31925Thr)
c.77390T>C (p.Ile25797Thr)
c.98885T>C (p.Ile32962Thr)
c.98882T>C (p.Ile32961Thr)
c.98315T>C (p.Ile32772Thr)
c.95657T>C (p.Ile31886Thr)
c.95576T>C (p.Ile31859Thr)
c.77339T>C (p.Ile25780Thr)
c.67193T>C (p.Ile22398Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178532171A>TCA349411719TTN,TTN-AS1c.96740T>A (p.Ile32247Asn)
c.77825T>A (p.Ile25942Asn)
c.77624T>A (p.Ile25875Asn)
c.77249T>A (p.Ile25750Asn)
c.104444T>A (p.Ile34815Asn)
c.99521T>A (p.Ile33174Asn)
n.446+8535A>T
n.220-3561A>T
c.103541T>A (p.Ile34514Asn)
c.77435T>A (p.Ile25812Asn)
c.77294T>A (p.Ile25765Asn)
c.103337T>A (p.Ile34446Asn)
c.98735T>A (p.Ile32912Asn)
c.98732T>A (p.Ile32911Asn)
c.95774T>A (p.Ile31925Asn)
c.77390T>A (p.Ile25797Asn)
c.98885T>A (p.Ile32962Asn)
c.98882T>A (p.Ile32961Asn)
c.98315T>A (p.Ile32772Asn)
c.95657T>A (p.Ile31886Asn)
c.95576T>A (p.Ile31859Asn)
c.77339T>A (p.Ile25780Asn)
c.67193T>A (p.Ile22398Asn)
 gnomAD v4
2g.178532172T>ACA349411720TTN,TTN-AS1c.96739A>T (p.Ile32247Phe)
c.77824A>T (p.Ile25942Phe)
c.77623A>T (p.Ile25875Phe)
c.77248A>T (p.Ile25750Phe)
c.104443A>T (p.Ile34815Phe)
c.99520A>T (p.Ile33174Phe)
n.446+8536T>A
n.220-3560T>A
c.103540A>T (p.Ile34514Phe)
c.77434A>T (p.Ile25812Phe)
c.77293A>T (p.Ile25765Phe)
c.103336A>T (p.Ile34446Phe)
c.98734A>T (p.Ile32912Phe)
c.98731A>T (p.Ile32911Phe)
c.95773A>T (p.Ile31925Phe)
c.77389A>T (p.Ile25797Phe)
c.98884A>T (p.Ile32962Phe)
c.98881A>T (p.Ile32961Phe)
c.98314A>T (p.Ile32772Phe)
c.95656A>T (p.Ile31886Phe)
c.95575A>T (p.Ile31859Phe)
c.77338A>T (p.Ile25780Phe)
c.67192A>T (p.Ile22398Phe)
2g.178532172T>CCA349411721TTN,TTN-AS1c.96739A>G (p.Ile32247Val)
c.77824A>G (p.Ile25942Val)
c.77623A>G (p.Ile25875Val)
c.77248A>G (p.Ile25750Val)
c.104443A>G (p.Ile34815Val)
c.99520A>G (p.Ile33174Val)
n.446+8536T>C
n.220-3560T>C
c.103540A>G (p.Ile34514Val)
c.77434A>G (p.Ile25812Val)
c.77293A>G (p.Ile25765Val)
c.103336A>G (p.Ile34446Val)
c.98734A>G (p.Ile32912Val)
c.98731A>G (p.Ile32911Val)
c.95773A>G (p.Ile31925Val)
c.77389A>G (p.Ile25797Val)
c.98884A>G (p.Ile32962Val)
c.98881A>G (p.Ile32961Val)
c.98314A>G (p.Ile32772Val)
c.95656A>G (p.Ile31886Val)
c.95575A>G (p.Ile31859Val)
c.77338A>G (p.Ile25780Val)
c.67192A>G (p.Ile22398Val)
2g.178532172T>GCA349411722TTN,TTN-AS1c.96739A>C (p.Ile32247Leu)
c.77824A>C (p.Ile25942Leu)
c.77623A>C (p.Ile25875Leu)
c.77248A>C (p.Ile25750Leu)
c.104443A>C (p.Ile34815Leu)
c.99520A>C (p.Ile33174Leu)
n.446+8536T>G
n.220-3560T>G
c.103540A>C (p.Ile34514Leu)
c.77434A>C (p.Ile25812Leu)
c.77293A>C (p.Ile25765Leu)
c.103336A>C (p.Ile34446Leu)
c.98734A>C (p.Ile32912Leu)
c.98731A>C (p.Ile32911Leu)
c.95773A>C (p.Ile31925Leu)
c.77389A>C (p.Ile25797Leu)
c.98884A>C (p.Ile32962Leu)
c.98881A>C (p.Ile32961Leu)
c.98314A>C (p.Ile32772Leu)
c.95656A>C (p.Ile31886Leu)
c.95575A>C (p.Ile31859Leu)
c.77338A>C (p.Ile25780Leu)
c.67192A>C (p.Ile22398Leu)
2g.178532173T>ACA349411723TTN,TTN-AS1c.96738A>T (p.Glu32246Asp)
c.77823A>T (p.Glu25941Asp)
c.77622A>T (p.Glu25874Asp)
c.77247A>T (p.Glu25749Asp)
c.104442A>T (p.Glu34814Asp)
c.99519A>T (p.Glu33173Asp)
n.446+8537T>A
n.220-3559T>A
c.103539A>T (p.Glu34513Asp)
c.77433A>T (p.Glu25811Asp)
c.77292A>T (p.Glu25764Asp)
c.103335A>T (p.Glu34445Asp)
c.98733A>T (p.Glu32911Asp)
c.98730A>T (p.Glu32910Asp)
c.95772A>T (p.Glu31924Asp)
c.77388A>T (p.Glu25796Asp)
c.98883A>T (p.Glu32961Asp)
c.98880A>T (p.Glu32960Asp)
c.98313A>T (p.Glu32771Asp)
c.95655A>T (p.Glu31885Asp)
c.95574A>T (p.Glu31858Asp)
c.77337A>T (p.Glu25779Asp)
c.67191A>T (p.Glu22397Asp)
2g.178532173T>CCA430235907TTN,TTN-AS1c.96738A>G (p.Glu32246=)
c.77823A>G (p.Glu25941=)
c.77622A>G (p.Glu25874=)
c.77247A>G (p.Glu25749=)
c.104442A>G (p.Glu34814=)
c.99519A>G (p.Glu33173=)
n.446+8537T>C
n.220-3559T>C
c.103539A>G (p.Glu34513=)
c.77433A>G (p.Glu25811=)
c.77292A>G (p.Glu25764=)
c.103335A>G (p.Glu34445=)
c.98733A>G (p.Glu32911=)
c.98730A>G (p.Glu32910=)
c.95772A>G (p.Glu31924=)
c.77388A>G (p.Glu25796=)
c.98883A>G (p.Glu32961=)
c.98880A>G (p.Glu32960=)
c.98313A>G (p.Glu32771=)
c.95655A>G (p.Glu31885=)
c.95574A>G (p.Glu31858=)
c.77337A>G (p.Glu25779=)
c.67191A>G (p.Glu22397=)
2g.178532173T>GCA349411724TTN,TTN-AS1c.96738A>C (p.Glu32246Asp)
c.77823A>C (p.Glu25941Asp)
c.77622A>C (p.Glu25874Asp)
c.77247A>C (p.Glu25749Asp)
c.104442A>C (p.Glu34814Asp)
c.99519A>C (p.Glu33173Asp)
n.446+8537T>G
n.220-3559T>G
c.103539A>C (p.Glu34513Asp)
c.77433A>C (p.Glu25811Asp)
c.77292A>C (p.Glu25764Asp)
c.103335A>C (p.Glu34445Asp)
c.98733A>C (p.Glu32911Asp)
c.98730A>C (p.Glu32910Asp)
c.95772A>C (p.Glu31924Asp)
c.77388A>C (p.Glu25796Asp)
c.98883A>C (p.Glu32961Asp)
c.98880A>C (p.Glu32960Asp)
c.98313A>C (p.Glu32771Asp)
c.95655A>C (p.Glu31885Asp)
c.95574A>C (p.Glu31858Asp)
c.77337A>C (p.Glu25779Asp)
c.67191A>C (p.Glu22397Asp)
2g.178532174T>ACA349411725TTN,TTN-AS1c.96737A>T (p.Glu32246Val)
c.77822A>T (p.Glu25941Val)
c.77621A>T (p.Glu25874Val)
c.77246A>T (p.Glu25749Val)
c.104441A>T (p.Glu34814Val)
c.99518A>T (p.Glu33173Val)
n.446+8538T>A
n.220-3558T>A
c.103538A>T (p.Glu34513Val)
c.77432A>T (p.Glu25811Val)
c.77291A>T (p.Glu25764Val)
c.103334A>T (p.Glu34445Val)
c.98732A>T (p.Glu32911Val)
c.98729A>T (p.Glu32910Val)
c.95771A>T (p.Glu31924Val)
c.77387A>T (p.Glu25796Val)
c.98882A>T (p.Glu32961Val)
c.98879A>T (p.Glu32960Val)
c.98312A>T (p.Glu32771Val)
c.95654A>T (p.Glu31885Val)
c.95573A>T (p.Glu31858Val)
c.77336A>T (p.Glu25779Val)
c.67190A>T (p.Glu22397Val)
2g.178532174T>CCA349411726TTN,TTN-AS1c.96737A>G (p.Glu32246Gly)
c.77822A>G (p.Glu25941Gly)
c.77621A>G (p.Glu25874Gly)
c.77246A>G (p.Glu25749Gly)
c.104441A>G (p.Glu34814Gly)
c.99518A>G (p.Glu33173Gly)
n.446+8538T>C
n.220-3558T>C
c.103538A>G (p.Glu34513Gly)
c.77432A>G (p.Glu25811Gly)
c.77291A>G (p.Glu25764Gly)
c.103334A>G (p.Glu34445Gly)
c.98732A>G (p.Glu32911Gly)
c.98729A>G (p.Glu32910Gly)
c.95771A>G (p.Glu31924Gly)
c.77387A>G (p.Glu25796Gly)
c.98882A>G (p.Glu32961Gly)
c.98879A>G (p.Glu32960Gly)
c.98312A>G (p.Glu32771Gly)
c.95654A>G (p.Glu31885Gly)
c.95573A>G (p.Glu31858Gly)
c.77336A>G (p.Glu25779Gly)
c.67190A>G (p.Glu22397Gly)
2g.178532174T>GCA349411727TTN,TTN-AS1c.96737A>C (p.Glu32246Ala)
c.77822A>C (p.Glu25941Ala)
c.77621A>C (p.Glu25874Ala)
c.77246A>C (p.Glu25749Ala)
c.104441A>C (p.Glu34814Ala)
c.99518A>C (p.Glu33173Ala)
n.446+8538T>G
n.220-3558T>G
c.103538A>C (p.Glu34513Ala)
c.77432A>C (p.Glu25811Ala)
c.77291A>C (p.Glu25764Ala)
c.103334A>C (p.Glu34445Ala)
c.98732A>C (p.Glu32911Ala)
c.98729A>C (p.Glu32910Ala)
c.95771A>C (p.Glu31924Ala)
c.77387A>C (p.Glu25796Ala)
c.98882A>C (p.Glu32961Ala)
c.98879A>C (p.Glu32960Ala)
c.98312A>C (p.Glu32771Ala)
c.95654A>C (p.Glu31885Ala)
c.95573A>C (p.Glu31858Ala)
c.77336A>C (p.Glu25779Ala)
c.67190A>C (p.Glu22397Ala)
2g.178532175_178532176delCA2662123808TTN,TTN-AS1c.96736_96737del (p.Glu32246AsnfsTer2)
c.77821_77822del (p.Glu25941AsnfsTer2)
c.77620_77621del (p.Glu25874AsnfsTer2)
c.77245_77246del (p.Glu25749AsnfsTer2)
c.104440_104441del (p.Glu34814AsnfsTer2)
c.99517_99518del (p.Glu33173AsnfsTer2)
n.446+8539_446+8540del
n.220-3557_220-3556del
c.103537_103538del (p.Glu34513AsnfsTer2)
c.77431_77432del (p.Glu25811AsnfsTer2)
c.77290_77291del (p.Glu25764AsnfsTer2)
c.103333_103334del (p.Glu34445AsnfsTer2)
c.98731_98732del (p.Glu32911AsnfsTer2)
c.98728_98729del (p.Glu32910AsnfsTer2)
c.95770_95771del (p.Glu31924AsnfsTer2)
c.77386_77387del (p.Glu25796AsnfsTer2)
c.98881_98882del (p.Glu32961AsnfsTer2)
c.98878_98879del (p.Glu32960AsnfsTer2)
c.98311_98312del (p.Glu32771AsnfsTer2)
c.95653_95654del (p.Glu31885AsnfsTer2)
c.95572_95573del (p.Glu31858AsnfsTer2)
c.77335_77336del (p.Glu25779AsnfsTer2)
c.67189_67190del (p.Glu22397AsnfsTer2)
 gnomAD v4
2g.178532175C>ACA349411728TTN,TTN-AS1c.96736G>T (p.Glu32246Ter)
c.77821G>T (p.Glu25941Ter)
c.77620G>T (p.Glu25874Ter)
c.77245G>T (p.Glu25749Ter)
c.104440G>T (p.Glu34814Ter)
c.99517G>T (p.Glu33173Ter)
n.446+8539C>A
n.220-3557C>A
c.103537G>T (p.Glu34513Ter)
c.77431G>T (p.Glu25811Ter)
c.77290G>T (p.Glu25764Ter)
c.103333G>T (p.Glu34445Ter)
c.98731G>T (p.Glu32911Ter)
c.98728G>T (p.Glu32910Ter)
c.95770G>T (p.Glu31924Ter)
c.77386G>T (p.Glu25796Ter)
c.98881G>T (p.Glu32961Ter)
c.98878G>T (p.Glu32960Ter)
c.98311G>T (p.Glu32771Ter)
c.95653G>T (p.Glu31885Ter)
c.95572G>T (p.Glu31858Ter)
c.77335G>T (p.Glu25779Ter)
c.67189G>T (p.Glu22397Ter)
2g.178532175C>GCA349411729TTN,TTN-AS1c.96736G>C (p.Glu32246Gln)
c.77821G>C (p.Glu25941Gln)
c.77620G>C (p.Glu25874Gln)
c.77245G>C (p.Glu25749Gln)
c.104440G>C (p.Glu34814Gln)
c.99517G>C (p.Glu33173Gln)
n.446+8539C>G
n.220-3557C>G
c.103537G>C (p.Glu34513Gln)
c.77431G>C (p.Glu25811Gln)
c.77290G>C (p.Glu25764Gln)
c.103333G>C (p.Glu34445Gln)
c.98731G>C (p.Glu32911Gln)
c.98728G>C (p.Glu32910Gln)
c.95770G>C (p.Glu31924Gln)
c.77386G>C (p.Glu25796Gln)
c.98881G>C (p.Glu32961Gln)
c.98878G>C (p.Glu32960Gln)
c.98311G>C (p.Glu32771Gln)
c.95653G>C (p.Glu31885Gln)
c.95572G>C (p.Glu31858Gln)
c.77335G>C (p.Glu25779Gln)
c.67189G>C (p.Glu22397Gln)
2g.178532175C>TCA349411730TTN,TTN-AS1c.96736G>A (p.Glu32246Lys)
c.77821G>A (p.Glu25941Lys)
c.77620G>A (p.Glu25874Lys)
c.77245G>A (p.Glu25749Lys)
c.104440G>A (p.Glu34814Lys)
c.99517G>A (p.Glu33173Lys)
n.446+8539C>T
n.220-3557C>T
c.103537G>A (p.Glu34513Lys)
c.77431G>A (p.Glu25811Lys)
c.77290G>A (p.Glu25764Lys)
c.103333G>A (p.Glu34445Lys)
c.98731G>A (p.Glu32911Lys)
c.98728G>A (p.Glu32910Lys)
c.95770G>A (p.Glu31924Lys)
c.77386G>A (p.Glu25796Lys)
c.98881G>A (p.Glu32961Lys)
c.98878G>A (p.Glu32960Lys)
c.98311G>A (p.Glu32771Lys)
c.95653G>A (p.Glu31885Lys)
c.95572G>A (p.Glu31858Lys)
c.77335G>A (p.Glu25779Lys)
c.67189G>A (p.Glu22397Lys)
 COSMIC
2g.178532176T>ACA430235908TTN,TTN-AS1c.96735A>T (p.Thr32245=)
c.77820A>T (p.Thr25940=)
c.77619A>T (p.Thr25873=)
c.77244A>T (p.Thr25748=)
c.104439A>T (p.Thr34813=)
c.99516A>T (p.Thr33172=)
n.446+8540T>A
n.220-3556T>A
c.103536A>T (p.Thr34512=)
c.77430A>T (p.Thr25810=)
c.77289A>T (p.Thr25763=)
c.103332A>T (p.Thr34444=)
c.98730A>T (p.Thr32910=)
c.98727A>T (p.Thr32909=)
c.95769A>T (p.Thr31923=)
c.77385A>T (p.Thr25795=)
c.98880A>T (p.Thr32960=)
c.98877A>T (p.Thr32959=)
c.98310A>T (p.Thr32770=)
c.95652A>T (p.Thr31884=)
c.95571A>T (p.Thr31857=)
c.77334A>T (p.Thr25778=)
c.67188A>T (p.Thr22396=)
2g.178532176T>CCA430235909TTN,TTN-AS1c.96735A>G (p.Thr32245=)
c.77820A>G (p.Thr25940=)
c.77619A>G (p.Thr25873=)
c.77244A>G (p.Thr25748=)
c.104439A>G (p.Thr34813=)
c.99516A>G (p.Thr33172=)
n.446+8540T>C
n.220-3556T>C
c.103536A>G (p.Thr34512=)
c.77430A>G (p.Thr25810=)
c.77289A>G (p.Thr25763=)
c.103332A>G (p.Thr34444=)
c.98730A>G (p.Thr32910=)
c.98727A>G (p.Thr32909=)
c.95769A>G (p.Thr31923=)
c.77385A>G (p.Thr25795=)
c.98880A>G (p.Thr32960=)
c.98877A>G (p.Thr32959=)
c.98310A>G (p.Thr32770=)
c.95652A>G (p.Thr31884=)
c.95571A>G (p.Thr31857=)
c.77334A>G (p.Thr25778=)
c.67188A>G (p.Thr22396=)
2g.178532176T>GCA430235910TTN,TTN-AS1c.96735A>C (p.Thr32245=)
c.77820A>C (p.Thr25940=)
c.77619A>C (p.Thr25873=)
c.77244A>C (p.Thr25748=)
c.104439A>C (p.Thr34813=)
c.99516A>C (p.Thr33172=)
n.446+8540T>G
n.220-3556T>G
c.103536A>C (p.Thr34512=)
c.77430A>C (p.Thr25810=)
c.77289A>C (p.Thr25763=)
c.103332A>C (p.Thr34444=)
c.98730A>C (p.Thr32910=)
c.98727A>C (p.Thr32909=)
c.95769A>C (p.Thr31923=)
c.77385A>C (p.Thr25795=)
c.98880A>C (p.Thr32960=)
c.98877A>C (p.Thr32959=)
c.98310A>C (p.Thr32770=)
c.95652A>C (p.Thr31884=)
c.95571A>C (p.Thr31857=)
c.77334A>C (p.Thr25778=)
c.67188A>C (p.Thr22396=)
2g.178532177_178532181delCA2577170193TTN,TTN-AS1c.96731_96735del (p.Ile32244ArgfsTer3)
c.77816_77820del (p.Ile25939ArgfsTer3)
c.77615_77619del (p.Ile25872ArgfsTer3)
c.77240_77244del (p.Ile25747ArgfsTer3)
c.104435_104439del (p.Ile34812ArgfsTer3)
c.99512_99516del (p.Ile33171ArgfsTer3)
n.446+8541_446+8545del
n.220-3555_220-3551del
c.103532_103536del (p.Ile34511ArgfsTer3)
c.77426_77430del (p.Ile25809ArgfsTer3)
c.77285_77289del (p.Ile25762ArgfsTer3)
c.103328_103332del (p.Ile34443ArgfsTer3)
c.98726_98730del (p.Ile32909ArgfsTer3)
c.98723_98727del (p.Ile32908ArgfsTer3)
c.95765_95769del (p.Ile31922ArgfsTer3)
c.77381_77385del (p.Ile25794ArgfsTer3)
c.98876_98880del (p.Ile32959ArgfsTer3)
c.98873_98877del (p.Ile32958ArgfsTer3)
c.98306_98310del (p.Ile32769ArgfsTer3)
c.95648_95652del (p.Ile31883ArgfsTer3)
c.95567_95571del (p.Ile31856ArgfsTer3)
c.77330_77334del (p.Ile25777ArgfsTer3)
c.67184_67188del (p.Ile22395ArgfsTer3)
2g.178532177G>ACA349411731TTN,TTN-AS1c.96734C>T (p.Thr32245Ile)
c.77819C>T (p.Thr25940Ile)
c.77618C>T (p.Thr25873Ile)
c.77243C>T (p.Thr25748Ile)
c.104438C>T (p.Thr34813Ile)
c.99515C>T (p.Thr33172Ile)
n.446+8541G>A
n.220-3555G>A
c.103535C>T (p.Thr34512Ile)
c.77429C>T (p.Thr25810Ile)
c.77288C>T (p.Thr25763Ile)
c.103331C>T (p.Thr34444Ile)
c.98729C>T (p.Thr32910Ile)
c.98726C>T (p.Thr32909Ile)
c.95768C>T (p.Thr31923Ile)
c.77384C>T (p.Thr25795Ile)
c.98879C>T (p.Thr32960Ile)
c.98876C>T (p.Thr32959Ile)
c.98309C>T (p.Thr32770Ile)
c.95651C>T (p.Thr31884Ile)
c.95570C>T (p.Thr31857Ile)
c.77333C>T (p.Thr25778Ile)
c.67187C>T (p.Thr22396Ile)
2g.178532177G>CCA349411732TTN,TTN-AS1c.96734C>G (p.Thr32245Arg)
c.77819C>G (p.Thr25940Arg)
c.77618C>G (p.Thr25873Arg)
c.77243C>G (p.Thr25748Arg)
c.104438C>G (p.Thr34813Arg)
c.99515C>G (p.Thr33172Arg)
n.446+8541G>C
n.220-3555G>C
c.103535C>G (p.Thr34512Arg)
c.77429C>G (p.Thr25810Arg)
c.77288C>G (p.Thr25763Arg)
c.103331C>G (p.Thr34444Arg)
c.98729C>G (p.Thr32910Arg)
c.98726C>G (p.Thr32909Arg)
c.95768C>G (p.Thr31923Arg)
c.77384C>G (p.Thr25795Arg)
c.98879C>G (p.Thr32960Arg)
c.98876C>G (p.Thr32959Arg)
c.98309C>G (p.Thr32770Arg)
c.95651C>G (p.Thr31884Arg)
c.95570C>G (p.Thr31857Arg)
c.77333C>G (p.Thr25778Arg)
c.67187C>G (p.Thr22396Arg)
2g.178532177G=CA1310518112TTN,TTN-AS1c.96734C= (p.Thr32245=)
c.77819C= (p.Thr25940=)
c.77618C= (p.Thr25873=)
c.77243C= (p.Thr25748=)
c.104438C= (p.Thr34813=)
c.99515C= (p.Thr33172=)
n.446+8541G=
n.220-3555G=
c.103535C= (p.Thr34512=)
c.77429C= (p.Thr25810=)
c.77288C= (p.Thr25763=)
c.103331C= (p.Thr34444=)
c.98729C= (p.Thr32910=)
c.98726C= (p.Thr32909=)
c.95768C= (p.Thr31923=)
c.77384C= (p.Thr25795=)
c.98879C= (p.Thr32960=)
c.98876C= (p.Thr32959=)
c.98309C= (p.Thr32770=)
c.95651C= (p.Thr31884=)
c.95570C= (p.Thr31857=)
c.77333C= (p.Thr25778=)
c.67187C= (p.Thr22396=)
2g.178532177G>TCA1985427TTN,TTN-AS1c.96734C>A (p.Thr32245Lys)
c.77819C>A (p.Thr25940Lys)
c.77618C>A (p.Thr25873Lys)
c.77243C>A (p.Thr25748Lys)
c.104438C>A (p.Thr34813Lys)
c.99515C>A (p.Thr33172Lys)
n.446+8541G>T
n.220-3555G>T
c.103535C>A (p.Thr34512Lys)
c.77429C>A (p.Thr25810Lys)
c.77288C>A (p.Thr25763Lys)
c.103331C>A (p.Thr34444Lys)
c.98729C>A (p.Thr32910Lys)
c.98726C>A (p.Thr32909Lys)
c.95768C>A (p.Thr31923Lys)
c.77384C>A (p.Thr25795Lys)
c.98879C>A (p.Thr32960Lys)
c.98876C>A (p.Thr32959Lys)
c.98309C>A (p.Thr32770Lys)
c.95651C>A (p.Thr31884Lys)
c.95570C>A (p.Thr31857Lys)
c.77333C>A (p.Thr25778Lys)
c.67187C>A (p.Thr22396Lys)
 ClinVar dbSNP ExAC gnomAD v2
2g.178532178T>ACA349411733TTN,TTN-AS1c.96733A>T (p.Thr32245Ser)
c.77818A>T (p.Thr25940Ser)
c.77617A>T (p.Thr25873Ser)
c.77242A>T (p.Thr25748Ser)
c.104437A>T (p.Thr34813Ser)
c.99514A>T (p.Thr33172Ser)
n.446+8542T>A
n.220-3554T>A
c.103534A>T (p.Thr34512Ser)
c.77428A>T (p.Thr25810Ser)
c.77287A>T (p.Thr25763Ser)
c.103330A>T (p.Thr34444Ser)
c.98728A>T (p.Thr32910Ser)
c.98725A>T (p.Thr32909Ser)
c.95767A>T (p.Thr31923Ser)
c.77383A>T (p.Thr25795Ser)
c.98878A>T (p.Thr32960Ser)
c.98875A>T (p.Thr32959Ser)
c.98308A>T (p.Thr32770Ser)
c.95650A>T (p.Thr31884Ser)
c.95569A>T (p.Thr31857Ser)
c.77332A>T (p.Thr25778Ser)
c.67186A>T (p.Thr22396Ser)
2g.178532178T>CCA349411734TTN,TTN-AS1c.96733A>G (p.Thr32245Ala)
c.77818A>G (p.Thr25940Ala)
c.77617A>G (p.Thr25873Ala)
c.77242A>G (p.Thr25748Ala)
c.104437A>G (p.Thr34813Ala)
c.99514A>G (p.Thr33172Ala)
n.446+8542T>C
n.220-3554T>C
c.103534A>G (p.Thr34512Ala)
c.77428A>G (p.Thr25810Ala)
c.77287A>G (p.Thr25763Ala)
c.103330A>G (p.Thr34444Ala)
c.98728A>G (p.Thr32910Ala)
c.98725A>G (p.Thr32909Ala)
c.95767A>G (p.Thr31923Ala)
c.77383A>G (p.Thr25795Ala)
c.98878A>G (p.Thr32960Ala)
c.98875A>G (p.Thr32959Ala)
c.98308A>G (p.Thr32770Ala)
c.95650A>G (p.Thr31884Ala)
c.95569A>G (p.Thr31857Ala)
c.77332A>G (p.Thr25778Ala)
c.67186A>G (p.Thr22396Ala)
2g.178532178T>GCA349411735TTN,TTN-AS1c.96733A>C (p.Thr32245Pro)
c.77818A>C (p.Thr25940Pro)
c.77617A>C (p.Thr25873Pro)
c.77242A>C (p.Thr25748Pro)
c.104437A>C (p.Thr34813Pro)
c.99514A>C (p.Thr33172Pro)
n.446+8542T>G
n.220-3554T>G
c.103534A>C (p.Thr34512Pro)
c.77428A>C (p.Thr25810Pro)
c.77287A>C (p.Thr25763Pro)
c.103330A>C (p.Thr34444Pro)
c.98728A>C (p.Thr32910Pro)
c.98725A>C (p.Thr32909Pro)
c.95767A>C (p.Thr31923Pro)
c.77383A>C (p.Thr25795Pro)
c.98878A>C (p.Thr32960Pro)
c.98875A>C (p.Thr32959Pro)
c.98308A>C (p.Thr32770Pro)
c.95650A>C (p.Thr31884Pro)
c.95569A>C (p.Thr31857Pro)
c.77332A>C (p.Thr25778Pro)
c.67186A>C (p.Thr22396Pro)
2g.178532179T>ACA430235911TTN,TTN-AS1c.96732A>T (p.Ile32244=)
c.77817A>T (p.Ile25939=)
c.77616A>T (p.Ile25872=)
c.77241A>T (p.Ile25747=)
c.104436A>T (p.Ile34812=)
c.99513A>T (p.Ile33171=)
n.446+8543T>A
n.220-3553T>A
c.103533A>T (p.Ile34511=)
c.77427A>T (p.Ile25809=)
c.77286A>T (p.Ile25762=)
c.103329A>T (p.Ile34443=)
c.98727A>T (p.Ile32909=)
c.98724A>T (p.Ile32908=)
c.95766A>T (p.Ile31922=)
c.77382A>T (p.Ile25794=)
c.98877A>T (p.Ile32959=)
c.98874A>T (p.Ile32958=)
c.98307A>T (p.Ile32769=)
c.95649A>T (p.Ile31883=)
c.95568A>T (p.Ile31856=)
c.77331A>T (p.Ile25777=)
c.67185A>T (p.Ile22395=)
2g.178532179T>CCA349411736TTN,TTN-AS1c.96732A>G (p.Ile32244Met)
c.77817A>G (p.Ile25939Met)
c.77616A>G (p.Ile25872Met)
c.77241A>G (p.Ile25747Met)
c.104436A>G (p.Ile34812Met)
c.99513A>G (p.Ile33171Met)
n.446+8543T>C
n.220-3553T>C
c.103533A>G (p.Ile34511Met)
c.77427A>G (p.Ile25809Met)
c.77286A>G (p.Ile25762Met)
c.103329A>G (p.Ile34443Met)
c.98727A>G (p.Ile32909Met)
c.98724A>G (p.Ile32908Met)
c.95766A>G (p.Ile31922Met)
c.77382A>G (p.Ile25794Met)
c.98877A>G (p.Ile32959Met)
c.98874A>G (p.Ile32958Met)
c.98307A>G (p.Ile32769Met)
c.95649A>G (p.Ile31883Met)
c.95568A>G (p.Ile31856Met)
c.77331A>G (p.Ile25777Met)
c.67185A>G (p.Ile22395Met)
2g.178532179T>GCA430235912TTN,TTN-AS1c.96732A>C (p.Ile32244=)
c.77817A>C (p.Ile25939=)
c.77616A>C (p.Ile25872=)
c.77241A>C (p.Ile25747=)
c.104436A>C (p.Ile34812=)
c.99513A>C (p.Ile33171=)
n.446+8543T>G
n.220-3553T>G
c.103533A>C (p.Ile34511=)
c.77427A>C (p.Ile25809=)
c.77286A>C (p.Ile25762=)
c.103329A>C (p.Ile34443=)
c.98727A>C (p.Ile32909=)
c.98724A>C (p.Ile32908=)
c.95766A>C (p.Ile31922=)
c.77382A>C (p.Ile25794=)
c.98877A>C (p.Ile32959=)
c.98874A>C (p.Ile32958=)
c.98307A>C (p.Ile32769=)
c.95649A>C (p.Ile31883=)
c.95568A>C (p.Ile31856=)
c.77331A>C (p.Ile25777=)
c.67185A>C (p.Ile22395=)
2g.178532180A=CA1310518113TTN,TTN-AS1c.96731T= (p.Ile32244=)
c.77816T= (p.Ile25939=)
c.77615T= (p.Ile25872=)
c.77240T= (p.Ile25747=)
c.104435T= (p.Ile34812=)
c.99512T= (p.Ile33171=)
n.446+8544A=
n.220-3552A=
c.103532T= (p.Ile34511=)
c.77426T= (p.Ile25809=)
c.77285T= (p.Ile25762=)
c.103328T= (p.Ile34443=)
c.98726T= (p.Ile32909=)
c.98723T= (p.Ile32908=)
c.95765T= (p.Ile31922=)
c.77381T= (p.Ile25794=)
c.98876T= (p.Ile32959=)
c.98873T= (p.Ile32958=)
c.98306T= (p.Ile32769=)
c.95648T= (p.Ile31883=)
c.95567T= (p.Ile31856=)
c.77330T= (p.Ile25777=)
c.67184T= (p.Ile22395=)
2g.178532180A>CCA349411739TTN,TTN-AS1c.96731T>G (p.Ile32244Arg)
c.77816T>G (p.Ile25939Arg)
c.77615T>G (p.Ile25872Arg)
c.77240T>G (p.Ile25747Arg)
c.104435T>G (p.Ile34812Arg)
c.99512T>G (p.Ile33171Arg)
n.446+8544A>C
n.220-3552A>C
c.103532T>G (p.Ile34511Arg)
c.77426T>G (p.Ile25809Arg)
c.77285T>G (p.Ile25762Arg)
c.103328T>G (p.Ile34443Arg)
c.98726T>G (p.Ile32909Arg)
c.98723T>G (p.Ile32908Arg)
c.95765T>G (p.Ile31922Arg)
c.77381T>G (p.Ile25794Arg)
c.98876T>G (p.Ile32959Arg)
c.98873T>G (p.Ile32958Arg)
c.98306T>G (p.Ile32769Arg)
c.95648T>G (p.Ile31883Arg)
c.95567T>G (p.Ile31856Arg)
c.77330T>G (p.Ile25777Arg)
c.67184T>G (p.Ile22395Arg)
2g.178532180A>GCA349411737TTN,TTN-AS1c.96731T>C (p.Ile32244Thr)
c.77816T>C (p.Ile25939Thr)
c.77615T>C (p.Ile25872Thr)
c.77240T>C (p.Ile25747Thr)
c.104435T>C (p.Ile34812Thr)
c.99512T>C (p.Ile33171Thr)
n.446+8544A>G
n.220-3552A>G
c.103532T>C (p.Ile34511Thr)
c.77426T>C (p.Ile25809Thr)
c.77285T>C (p.Ile25762Thr)
c.103328T>C (p.Ile34443Thr)
c.98726T>C (p.Ile32909Thr)
c.98723T>C (p.Ile32908Thr)
c.95765T>C (p.Ile31922Thr)
c.77381T>C (p.Ile25794Thr)
c.98876T>C (p.Ile32959Thr)
c.98873T>C (p.Ile32958Thr)
c.98306T>C (p.Ile32769Thr)
c.95648T>C (p.Ile31883Thr)
c.95567T>C (p.Ile31856Thr)
c.77330T>C (p.Ile25777Thr)
c.67184T>C (p.Ile22395Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532180A>TCA349411738TTN,TTN-AS1c.96731T>A (p.Ile32244Lys)
c.77816T>A (p.Ile25939Lys)
c.77615T>A (p.Ile25872Lys)
c.77240T>A (p.Ile25747Lys)
c.104435T>A (p.Ile34812Lys)
c.99512T>A (p.Ile33171Lys)
n.446+8544A>T
n.220-3552A>T
c.103532T>A (p.Ile34511Lys)
c.77426T>A (p.Ile25809Lys)
c.77285T>A (p.Ile25762Lys)
c.103328T>A (p.Ile34443Lys)
c.98726T>A (p.Ile32909Lys)
c.98723T>A (p.Ile32908Lys)
c.95765T>A (p.Ile31922Lys)
c.77381T>A (p.Ile25794Lys)
c.98876T>A (p.Ile32959Lys)
c.98873T>A (p.Ile32958Lys)
c.98306T>A (p.Ile32769Lys)
c.95648T>A (p.Ile31883Lys)
c.95567T>A (p.Ile31856Lys)
c.77330T>A (p.Ile25777Lys)
c.67184T>A (p.Ile22395Lys)
2g.178532181T>ACA349411740TTN,TTN-AS1c.96730A>T (p.Ile32244Leu)
c.77815A>T (p.Ile25939Leu)
c.77614A>T (p.Ile25872Leu)
c.77239A>T (p.Ile25747Leu)
c.104434A>T (p.Ile34812Leu)
c.99511A>T (p.Ile33171Leu)
n.446+8545T>A
n.220-3551T>A
c.103531A>T (p.Ile34511Leu)
c.77425A>T (p.Ile25809Leu)
c.77284A>T (p.Ile25762Leu)
c.103327A>T (p.Ile34443Leu)
c.98725A>T (p.Ile32909Leu)
c.98722A>T (p.Ile32908Leu)
c.95764A>T (p.Ile31922Leu)
c.77380A>T (p.Ile25794Leu)
c.98875A>T (p.Ile32959Leu)
c.98872A>T (p.Ile32958Leu)
c.98305A>T (p.Ile32769Leu)
c.95647A>T (p.Ile31883Leu)
c.95566A>T (p.Ile31856Leu)
c.77329A>T (p.Ile25777Leu)
c.67183A>T (p.Ile22395Leu)
2g.178532181T>CCA349411741TTN,TTN-AS1c.96730A>G (p.Ile32244Val)
c.77815A>G (p.Ile25939Val)
c.77614A>G (p.Ile25872Val)
c.77239A>G (p.Ile25747Val)
c.104434A>G (p.Ile34812Val)
c.99511A>G (p.Ile33171Val)
n.446+8545T>C
n.220-3551T>C
c.103531A>G (p.Ile34511Val)
c.77425A>G (p.Ile25809Val)
c.77284A>G (p.Ile25762Val)
c.103327A>G (p.Ile34443Val)
c.98725A>G (p.Ile32909Val)
c.98722A>G (p.Ile32908Val)
c.95764A>G (p.Ile31922Val)
c.77380A>G (p.Ile25794Val)
c.98875A>G (p.Ile32959Val)
c.98872A>G (p.Ile32958Val)
c.98305A>G (p.Ile32769Val)
c.95647A>G (p.Ile31883Val)
c.95566A>G (p.Ile31856Val)
c.77329A>G (p.Ile25777Val)
c.67183A>G (p.Ile22395Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532181T>GCA349411742TTN,TTN-AS1c.96730A>C (p.Ile32244Leu)
c.77815A>C (p.Ile25939Leu)
c.77614A>C (p.Ile25872Leu)
c.77239A>C (p.Ile25747Leu)
c.104434A>C (p.Ile34812Leu)
c.99511A>C (p.Ile33171Leu)
n.446+8545T>G
n.220-3551T>G
c.103531A>C (p.Ile34511Leu)
c.77425A>C (p.Ile25809Leu)
c.77284A>C (p.Ile25762Leu)
c.103327A>C (p.Ile34443Leu)
c.98725A>C (p.Ile32909Leu)
c.98722A>C (p.Ile32908Leu)
c.95764A>C (p.Ile31922Leu)
c.77380A>C (p.Ile25794Leu)
c.98875A>C (p.Ile32959Leu)
c.98872A>C (p.Ile32958Leu)
c.98305A>C (p.Ile32769Leu)
c.95647A>C (p.Ile31883Leu)
c.95566A>C (p.Ile31856Leu)
c.77329A>C (p.Ile25777Leu)
c.67183A>C (p.Ile22395Leu)
2g.178532181T=CA1310518114TTN,TTN-AS1c.96730A= (p.Ile32244=)
c.77815A= (p.Ile25939=)
c.77614A= (p.Ile25872=)
c.77239A= (p.Ile25747=)
c.104434A= (p.Ile34812=)
c.99511A= (p.Ile33171=)
n.446+8545T=
n.220-3551T=
c.103531A= (p.Ile34511=)
c.77425A= (p.Ile25809=)
c.77284A= (p.Ile25762=)
c.103327A= (p.Ile34443=)
c.98725A= (p.Ile32909=)
c.98722A= (p.Ile32908=)
c.95764A= (p.Ile31922=)
c.77380A= (p.Ile25794=)
c.98875A= (p.Ile32959=)
c.98872A= (p.Ile32958=)
c.98305A= (p.Ile32769=)
c.95647A= (p.Ile31883=)
c.95566A= (p.Ile31856=)
c.77329A= (p.Ile25777=)
c.67183A= (p.Ile22395=)
2g.178532182T>ACA349411743TTN,TTN-AS1c.96729A>T (p.Glu32243Asp)
c.77814A>T (p.Glu25938Asp)
c.77613A>T (p.Glu25871Asp)
c.77238A>T (p.Glu25746Asp)
c.104433A>T (p.Glu34811Asp)
c.99510A>T (p.Glu33170Asp)
n.446+8546T>A
n.220-3550T>A
c.103530A>T (p.Glu34510Asp)
c.77424A>T (p.Glu25808Asp)
c.77283A>T (p.Glu25761Asp)
c.103326A>T (p.Glu34442Asp)
c.98724A>T (p.Glu32908Asp)
c.98721A>T (p.Glu32907Asp)
c.95763A>T (p.Glu31921Asp)
c.77379A>T (p.Glu25793Asp)
c.98874A>T (p.Glu32958Asp)
c.98871A>T (p.Glu32957Asp)
c.98304A>T (p.Glu32768Asp)
c.95646A>T (p.Glu31882Asp)
c.95565A>T (p.Glu31855Asp)
c.77328A>T (p.Glu25776Asp)
c.67182A>T (p.Glu22394Asp)
2g.178532182T>CCA430235913TTN,TTN-AS1c.96729A>G (p.Glu32243=)
c.77814A>G (p.Glu25938=)
c.77613A>G (p.Glu25871=)
c.77238A>G (p.Glu25746=)
c.104433A>G (p.Glu34811=)
c.99510A>G (p.Glu33170=)
n.446+8546T>C
n.220-3550T>C
c.103530A>G (p.Glu34510=)
c.77424A>G (p.Glu25808=)
c.77283A>G (p.Glu25761=)
c.103326A>G (p.Glu34442=)
c.98724A>G (p.Glu32908=)
c.98721A>G (p.Glu32907=)
c.95763A>G (p.Glu31921=)
c.77379A>G (p.Glu25793=)
c.98874A>G (p.Glu32958=)
c.98871A>G (p.Glu32957=)
c.98304A>G (p.Glu32768=)
c.95646A>G (p.Glu31882=)
c.95565A>G (p.Glu31855=)
c.77328A>G (p.Glu25776=)
c.67182A>G (p.Glu22394=)
2g.178532182T>GCA349411744TTN,TTN-AS1c.96729A>C (p.Glu32243Asp)
c.77814A>C (p.Glu25938Asp)
c.77613A>C (p.Glu25871Asp)
c.77238A>C (p.Glu25746Asp)
c.104433A>C (p.Glu34811Asp)
c.99510A>C (p.Glu33170Asp)
n.446+8546T>G
n.220-3550T>G
c.103530A>C (p.Glu34510Asp)
c.77424A>C (p.Glu25808Asp)
c.77283A>C (p.Glu25761Asp)
c.103326A>C (p.Glu34442Asp)
c.98724A>C (p.Glu32908Asp)
c.98721A>C (p.Glu32907Asp)
c.95763A>C (p.Glu31921Asp)
c.77379A>C (p.Glu25793Asp)
c.98874A>C (p.Glu32958Asp)
c.98871A>C (p.Glu32957Asp)
c.98304A>C (p.Glu32768Asp)
c.95646A>C (p.Glu31882Asp)
c.95565A>C (p.Glu31855Asp)
c.77328A>C (p.Glu25776Asp)
c.67182A>C (p.Glu22394Asp)
2g.178532183T>ACA349411745TTN,TTN-AS1c.96728A>T (p.Glu32243Val)
c.77813A>T (p.Glu25938Val)
c.77612A>T (p.Glu25871Val)
c.77237A>T (p.Glu25746Val)
c.104432A>T (p.Glu34811Val)
c.99509A>T (p.Glu33170Val)
n.446+8547T>A
n.220-3549T>A
c.103529A>T (p.Glu34510Val)
c.77423A>T (p.Glu25808Val)
c.77282A>T (p.Glu25761Val)
c.103325A>T (p.Glu34442Val)
c.98723A>T (p.Glu32908Val)
c.98720A>T (p.Glu32907Val)
c.95762A>T (p.Glu31921Val)
c.77378A>T (p.Glu25793Val)
c.98873A>T (p.Glu32958Val)
c.98870A>T (p.Glu32957Val)
c.98303A>T (p.Glu32768Val)
c.95645A>T (p.Glu31882Val)
c.95564A>T (p.Glu31855Val)
c.77327A>T (p.Glu25776Val)
c.67181A>T (p.Glu22394Val)
2g.178532183T>CCA349411746TTN,TTN-AS1c.96728A>G (p.Glu32243Gly)
c.77813A>G (p.Glu25938Gly)
c.77612A>G (p.Glu25871Gly)
c.77237A>G (p.Glu25746Gly)
c.104432A>G (p.Glu34811Gly)
c.99509A>G (p.Glu33170Gly)
n.446+8547T>C
n.220-3549T>C
c.103529A>G (p.Glu34510Gly)
c.77423A>G (p.Glu25808Gly)
c.77282A>G (p.Glu25761Gly)
c.103325A>G (p.Glu34442Gly)
c.98723A>G (p.Glu32908Gly)
c.98720A>G (p.Glu32907Gly)
c.95762A>G (p.Glu31921Gly)
c.77378A>G (p.Glu25793Gly)
c.98873A>G (p.Glu32958Gly)
c.98870A>G (p.Glu32957Gly)
c.98303A>G (p.Glu32768Gly)
c.95645A>G (p.Glu31882Gly)
c.95564A>G (p.Glu31855Gly)
c.77327A>G (p.Glu25776Gly)
c.67181A>G (p.Glu22394Gly)
2g.178532183T>GCA349411747TTN,TTN-AS1c.96728A>C (p.Glu32243Ala)
c.77813A>C (p.Glu25938Ala)
c.77612A>C (p.Glu25871Ala)
c.77237A>C (p.Glu25746Ala)
c.104432A>C (p.Glu34811Ala)
c.99509A>C (p.Glu33170Ala)
n.446+8547T>G
n.220-3549T>G
c.103529A>C (p.Glu34510Ala)
c.77423A>C (p.Glu25808Ala)
c.77282A>C (p.Glu25761Ala)
c.103325A>C (p.Glu34442Ala)
c.98723A>C (p.Glu32908Ala)
c.98720A>C (p.Glu32907Ala)
c.95762A>C (p.Glu31921Ala)
c.77378A>C (p.Glu25793Ala)
c.98873A>C (p.Glu32958Ala)
c.98870A>C (p.Glu32957Ala)
c.98303A>C (p.Glu32768Ala)
c.95645A>C (p.Glu31882Ala)
c.95564A>C (p.Glu31855Ala)
c.77327A>C (p.Glu25776Ala)
c.67181A>C (p.Glu22394Ala)
2g.178532184C>ACA349411748TTN,TTN-AS1c.96727G>T (p.Glu32243Ter)
c.77812G>T (p.Glu25938Ter)
c.77611G>T (p.Glu25871Ter)
c.77236G>T (p.Glu25746Ter)
c.104431G>T (p.Glu34811Ter)
c.99508G>T (p.Glu33170Ter)
n.446+8548C>A
n.220-3548C>A
c.103528G>T (p.Glu34510Ter)
c.77422G>T (p.Glu25808Ter)
c.77281G>T (p.Glu25761Ter)
c.103324G>T (p.Glu34442Ter)
c.98722G>T (p.Glu32908Ter)
c.98719G>T (p.Glu32907Ter)
c.95761G>T (p.Glu31921Ter)
c.77377G>T (p.Glu25793Ter)
c.98872G>T (p.Glu32958Ter)
c.98869G>T (p.Glu32957Ter)
c.98302G>T (p.Glu32768Ter)
c.95644G>T (p.Glu31882Ter)
c.95563G>T (p.Glu31855Ter)
c.77326G>T (p.Glu25776Ter)
c.67180G>T (p.Glu22394Ter)
2g.178532184C>GCA349411749TTN,TTN-AS1c.96727G>C (p.Glu32243Gln)
c.77812G>C (p.Glu25938Gln)
c.77611G>C (p.Glu25871Gln)
c.77236G>C (p.Glu25746Gln)
c.104431G>C (p.Glu34811Gln)
c.99508G>C (p.Glu33170Gln)
n.446+8548C>G
n.220-3548C>G
c.103528G>C (p.Glu34510Gln)
c.77422G>C (p.Glu25808Gln)
c.77281G>C (p.Glu25761Gln)
c.103324G>C (p.Glu34442Gln)
c.98722G>C (p.Glu32908Gln)
c.98719G>C (p.Glu32907Gln)
c.95761G>C (p.Glu31921Gln)
c.77377G>C (p.Glu25793Gln)
c.98872G>C (p.Glu32958Gln)
c.98869G>C (p.Glu32957Gln)
c.98302G>C (p.Glu32768Gln)
c.95644G>C (p.Glu31882Gln)
c.95563G>C (p.Glu31855Gln)
c.77326G>C (p.Glu25776Gln)
c.67180G>C (p.Glu22394Gln)
2g.178532184C>TCA349411750TTN,TTN-AS1c.96727G>A (p.Glu32243Lys)
c.77812G>A (p.Glu25938Lys)
c.77611G>A (p.Glu25871Lys)
c.77236G>A (p.Glu25746Lys)
c.104431G>A (p.Glu34811Lys)
c.99508G>A (p.Glu33170Lys)
n.446+8548C>T
n.220-3548C>T
c.103528G>A (p.Glu34510Lys)
c.77422G>A (p.Glu25808Lys)
c.77281G>A (p.Glu25761Lys)
c.103324G>A (p.Glu34442Lys)
c.98722G>A (p.Glu32908Lys)
c.98719G>A (p.Glu32907Lys)
c.95761G>A (p.Glu31921Lys)
c.77377G>A (p.Glu25793Lys)
c.98872G>A (p.Glu32958Lys)
c.98869G>A (p.Glu32957Lys)
c.98302G>A (p.Glu32768Lys)
c.95644G>A (p.Glu31882Lys)
c.95563G>A (p.Glu31855Lys)
c.77326G>A (p.Glu25776Lys)
c.67180G>A (p.Glu22394Lys)
2g.178532185T>ACA430235916TTN,TTN-AS1c.96726A>T (p.Thr32242=)
c.77811A>T (p.Thr25937=)
c.77610A>T (p.Thr25870=)
c.77235A>T (p.Thr25745=)
c.104430A>T (p.Thr34810=)
c.99507A>T (p.Thr33169=)
n.446+8549T>A
n.220-3547T>A
c.103527A>T (p.Thr34509=)
c.77421A>T (p.Thr25807=)
c.77280A>T (p.Thr25760=)
c.103323A>T (p.Thr34441=)
c.98721A>T (p.Thr32907=)
c.98718A>T (p.Thr32906=)
c.95760A>T (p.Thr31920=)
c.77376A>T (p.Thr25792=)
c.98871A>T (p.Thr32957=)
c.98868A>T (p.Thr32956=)
c.98301A>T (p.Thr32767=)
c.95643A>T (p.Thr31881=)
c.95562A>T (p.Thr31854=)
c.77325A>T (p.Thr25775=)
c.67179A>T (p.Thr22393=)
2g.178532185T>CCA430235915TTN,TTN-AS1c.96726A>G (p.Thr32242=)
c.77811A>G (p.Thr25937=)
c.77610A>G (p.Thr25870=)
c.77235A>G (p.Thr25745=)
c.104430A>G (p.Thr34810=)
c.99507A>G (p.Thr33169=)
n.446+8549T>C
n.220-3547T>C
c.103527A>G (p.Thr34509=)
c.77421A>G (p.Thr25807=)
c.77280A>G (p.Thr25760=)
c.103323A>G (p.Thr34441=)
c.98721A>G (p.Thr32907=)
c.98718A>G (p.Thr32906=)
c.95760A>G (p.Thr31920=)
c.77376A>G (p.Thr25792=)
c.98871A>G (p.Thr32957=)
c.98868A>G (p.Thr32956=)
c.98301A>G (p.Thr32767=)
c.95643A>G (p.Thr31881=)
c.95562A>G (p.Thr31854=)
c.77325A>G (p.Thr25775=)
c.67179A>G (p.Thr22393=)
2g.178532185T>GCA430235914TTN,TTN-AS1c.96726A>C (p.Thr32242=)
c.77811A>C (p.Thr25937=)
c.77610A>C (p.Thr25870=)
c.77235A>C (p.Thr25745=)
c.104430A>C (p.Thr34810=)
c.99507A>C (p.Thr33169=)
n.446+8549T>G
n.220-3547T>G
c.103527A>C (p.Thr34509=)
c.77421A>C (p.Thr25807=)
c.77280A>C (p.Thr25760=)
c.103323A>C (p.Thr34441=)
c.98721A>C (p.Thr32907=)
c.98718A>C (p.Thr32906=)
c.95760A>C (p.Thr31920=)
c.77376A>C (p.Thr25792=)
c.98871A>C (p.Thr32957=)
c.98868A>C (p.Thr32956=)
c.98301A>C (p.Thr32767=)
c.95643A>C (p.Thr31881=)
c.95562A>C (p.Thr31854=)
c.77325A>C (p.Thr25775=)
c.67179A>C (p.Thr22393=)
2g.178532186G>ACA349411753TTN,TTN-AS1c.96725C>T (p.Thr32242Ile)
c.77810C>T (p.Thr25937Ile)
c.77609C>T (p.Thr25870Ile)
c.77234C>T (p.Thr25745Ile)
c.104429C>T (p.Thr34810Ile)
c.99506C>T (p.Thr33169Ile)
n.446+8550G>A
n.220-3546G>A
c.103526C>T (p.Thr34509Ile)
c.77420C>T (p.Thr25807Ile)
c.77279C>T (p.Thr25760Ile)
c.103322C>T (p.Thr34441Ile)
c.98720C>T (p.Thr32907Ile)
c.98717C>T (p.Thr32906Ile)
c.95759C>T (p.Thr31920Ile)
c.77375C>T (p.Thr25792Ile)
c.98870C>T (p.Thr32957Ile)
c.98867C>T (p.Thr32956Ile)
c.98300C>T (p.Thr32767Ile)
c.95642C>T (p.Thr31881Ile)
c.95561C>T (p.Thr31854Ile)
c.77324C>T (p.Thr25775Ile)
c.67178C>T (p.Thr22393Ile)
2g.178532186G>CCA349411751TTN,TTN-AS1c.96725C>G (p.Thr32242Arg)
c.77810C>G (p.Thr25937Arg)
c.77609C>G (p.Thr25870Arg)
c.77234C>G (p.Thr25745Arg)
c.104429C>G (p.Thr34810Arg)
c.99506C>G (p.Thr33169Arg)
n.446+8550G>C
n.220-3546G>C
c.103526C>G (p.Thr34509Arg)
c.77420C>G (p.Thr25807Arg)
c.77279C>G (p.Thr25760Arg)
c.103322C>G (p.Thr34441Arg)
c.98720C>G (p.Thr32907Arg)
c.98717C>G (p.Thr32906Arg)
c.95759C>G (p.Thr31920Arg)
c.77375C>G (p.Thr25792Arg)
c.98870C>G (p.Thr32957Arg)
c.98867C>G (p.Thr32956Arg)
c.98300C>G (p.Thr32767Arg)
c.95642C>G (p.Thr31881Arg)
c.95561C>G (p.Thr31854Arg)
c.77324C>G (p.Thr25775Arg)
c.67178C>G (p.Thr22393Arg)
2g.178532186G>TCA349411752TTN,TTN-AS1c.96725C>A (p.Thr32242Lys)
c.77810C>A (p.Thr25937Lys)
c.77609C>A (p.Thr25870Lys)
c.77234C>A (p.Thr25745Lys)
c.104429C>A (p.Thr34810Lys)
c.99506C>A (p.Thr33169Lys)
n.446+8550G>T
n.220-3546G>T
c.103526C>A (p.Thr34509Lys)
c.77420C>A (p.Thr25807Lys)
c.77279C>A (p.Thr25760Lys)
c.103322C>A (p.Thr34441Lys)
c.98720C>A (p.Thr32907Lys)
c.98717C>A (p.Thr32906Lys)
c.95759C>A (p.Thr31920Lys)
c.77375C>A (p.Thr25792Lys)
c.98870C>A (p.Thr32957Lys)
c.98867C>A (p.Thr32956Lys)
c.98300C>A (p.Thr32767Lys)
c.95642C>A (p.Thr31881Lys)
c.95561C>A (p.Thr31854Lys)
c.77324C>A (p.Thr25775Lys)
c.67178C>A (p.Thr22393Lys)
2g.178532187T>ACA349411754TTN,TTN-AS1c.96724A>T (p.Thr32242Ser)
c.77809A>T (p.Thr25937Ser)
c.77608A>T (p.Thr25870Ser)
c.77233A>T (p.Thr25745Ser)
c.104428A>T (p.Thr34810Ser)
c.99505A>T (p.Thr33169Ser)
n.446+8551T>A
n.220-3545T>A
c.103525A>T (p.Thr34509Ser)
c.77419A>T (p.Thr25807Ser)
c.77278A>T (p.Thr25760Ser)
c.103321A>T (p.Thr34441Ser)
c.98719A>T (p.Thr32907Ser)
c.98716A>T (p.Thr32906Ser)
c.95758A>T (p.Thr31920Ser)
c.77374A>T (p.Thr25792Ser)
c.98869A>T (p.Thr32957Ser)
c.98866A>T (p.Thr32956Ser)
c.98299A>T (p.Thr32767Ser)
c.95641A>T (p.Thr31881Ser)
c.95560A>T (p.Thr31854Ser)
c.77323A>T (p.Thr25775Ser)
c.67177A>T (p.Thr22393Ser)
2g.178532187T>CCA349411755TTN,TTN-AS1c.96724A>G (p.Thr32242Ala)
c.77809A>G (p.Thr25937Ala)
c.77608A>G (p.Thr25870Ala)
c.77233A>G (p.Thr25745Ala)
c.104428A>G (p.Thr34810Ala)
c.99505A>G (p.Thr33169Ala)
n.446+8551T>C
n.220-3545T>C
c.103525A>G (p.Thr34509Ala)
c.77419A>G (p.Thr25807Ala)
c.77278A>G (p.Thr25760Ala)
c.103321A>G (p.Thr34441Ala)
c.98719A>G (p.Thr32907Ala)
c.98716A>G (p.Thr32906Ala)
c.95758A>G (p.Thr31920Ala)
c.77374A>G (p.Thr25792Ala)
c.98869A>G (p.Thr32957Ala)
c.98866A>G (p.Thr32956Ala)
c.98299A>G (p.Thr32767Ala)
c.95641A>G (p.Thr31881Ala)
c.95560A>G (p.Thr31854Ala)
c.77323A>G (p.Thr25775Ala)
c.67177A>G (p.Thr22393Ala)
2g.178532187T>GCA349411756TTN,TTN-AS1c.96724A>C (p.Thr32242Pro)
c.77809A>C (p.Thr25937Pro)
c.77608A>C (p.Thr25870Pro)
c.77233A>C (p.Thr25745Pro)
c.104428A>C (p.Thr34810Pro)
c.99505A>C (p.Thr33169Pro)
n.446+8551T>G
n.220-3545T>G
c.103525A>C (p.Thr34509Pro)
c.77419A>C (p.Thr25807Pro)
c.77278A>C (p.Thr25760Pro)
c.103321A>C (p.Thr34441Pro)
c.98719A>C (p.Thr32907Pro)
c.98716A>C (p.Thr32906Pro)
c.95758A>C (p.Thr31920Pro)
c.77374A>C (p.Thr25792Pro)
c.98869A>C (p.Thr32957Pro)
c.98866A>C (p.Thr32956Pro)
c.98299A>C (p.Thr32767Pro)
c.95641A>C (p.Thr31881Pro)
c.95560A>C (p.Thr31854Pro)
c.77323A>C (p.Thr25775Pro)
c.67177A>C (p.Thr22393Pro)
2g.178532188C>ACA430235917TTN,TTN-AS1c.96723G>T (p.Val32241=)
c.77808G>T (p.Val25936=)
c.77607G>T (p.Val25869=)
c.77232G>T (p.Val25744=)
c.104427G>T (p.Val34809=)
c.99504G>T (p.Val33168=)
n.446+8552C>A
n.220-3544C>A
c.103524G>T (p.Val34508=)
c.77418G>T (p.Val25806=)
c.77277G>T (p.Val25759=)
c.103320G>T (p.Val34440=)
c.98718G>T (p.Val32906=)
c.98715G>T (p.Val32905=)
c.95757G>T (p.Val31919=)
c.77373G>T (p.Val25791=)
c.98868G>T (p.Val32956=)
c.98865G>T (p.Val32955=)
c.98298G>T (p.Val32766=)
c.95640G>T (p.Val31880=)
c.95559G>T (p.Val31853=)
c.77322G>T (p.Val25774=)
c.67176G>T (p.Val22392=)
2g.178532188C>GCA430235919TTN,TTN-AS1c.96723G>C (p.Val32241=)
c.77808G>C (p.Val25936=)
c.77607G>C (p.Val25869=)
c.77232G>C (p.Val25744=)
c.104427G>C (p.Val34809=)
c.99504G>C (p.Val33168=)
n.446+8552C>G
n.220-3544C>G
c.103524G>C (p.Val34508=)
c.77418G>C (p.Val25806=)
c.77277G>C (p.Val25759=)
c.103320G>C (p.Val34440=)
c.98718G>C (p.Val32906=)
c.98715G>C (p.Val32905=)
c.95757G>C (p.Val31919=)
c.77373G>C (p.Val25791=)
c.98868G>C (p.Val32956=)
c.98865G>C (p.Val32955=)
c.98298G>C (p.Val32766=)
c.95640G>C (p.Val31880=)
c.95559G>C (p.Val31853=)
c.77322G>C (p.Val25774=)
c.67176G>C (p.Val22392=)
2g.178532188C>TCA430235918TTN,TTN-AS1c.96723G>A (p.Val32241=)
c.77808G>A (p.Val25936=)
c.77607G>A (p.Val25869=)
c.77232G>A (p.Val25744=)
c.104427G>A (p.Val34809=)
c.99504G>A (p.Val33168=)
n.446+8552C>T
n.220-3544C>T
c.103524G>A (p.Val34508=)
c.77418G>A (p.Val25806=)
c.77277G>A (p.Val25759=)
c.103320G>A (p.Val34440=)
c.98718G>A (p.Val32906=)
c.98715G>A (p.Val32905=)
c.95757G>A (p.Val31919=)
c.77373G>A (p.Val25791=)
c.98868G>A (p.Val32956=)
c.98865G>A (p.Val32955=)
c.98298G>A (p.Val32766=)
c.95640G>A (p.Val31880=)
c.95559G>A (p.Val31853=)
c.77322G>A (p.Val25774=)
c.67176G>A (p.Val22392=)
2g.178532189A>CCA349411757TTN,TTN-AS1c.96722T>G (p.Val32241Gly)
c.77807T>G (p.Val25936Gly)
c.77606T>G (p.Val25869Gly)
c.77231T>G (p.Val25744Gly)
c.104426T>G (p.Val34809Gly)
c.99503T>G (p.Val33168Gly)
n.446+8553A>C
n.220-3543A>C
c.103523T>G (p.Val34508Gly)
c.77417T>G (p.Val25806Gly)
c.77276T>G (p.Val25759Gly)
c.103319T>G (p.Val34440Gly)
c.98717T>G (p.Val32906Gly)
c.98714T>G (p.Val32905Gly)
c.95756T>G (p.Val31919Gly)
c.77372T>G (p.Val25791Gly)
c.98867T>G (p.Val32956Gly)
c.98864T>G (p.Val32955Gly)
c.98297T>G (p.Val32766Gly)
c.95639T>G (p.Val31880Gly)
c.95558T>G (p.Val31853Gly)
c.77321T>G (p.Val25774Gly)
c.67175T>G (p.Val22392Gly)
2g.178532189A>GCA349411758TTN,TTN-AS1c.96722T>C (p.Val32241Ala)
c.77807T>C (p.Val25936Ala)
c.77606T>C (p.Val25869Ala)
c.77231T>C (p.Val25744Ala)
c.104426T>C (p.Val34809Ala)
c.99503T>C (p.Val33168Ala)
n.446+8553A>G
n.220-3543A>G
c.103523T>C (p.Val34508Ala)
c.77417T>C (p.Val25806Ala)
c.77276T>C (p.Val25759Ala)
c.103319T>C (p.Val34440Ala)
c.98717T>C (p.Val32906Ala)
c.98714T>C (p.Val32905Ala)
c.95756T>C (p.Val31919Ala)
c.77372T>C (p.Val25791Ala)
c.98867T>C (p.Val32956Ala)
c.98864T>C (p.Val32955Ala)
c.98297T>C (p.Val32766Ala)
c.95639T>C (p.Val31880Ala)
c.95558T>C (p.Val31853Ala)
c.77321T>C (p.Val25774Ala)
c.67175T>C (p.Val22392Ala)
2g.178532189A>TCA349411759TTN,TTN-AS1c.96722T>A (p.Val32241Glu)
c.77807T>A (p.Val25936Glu)
c.77606T>A (p.Val25869Glu)
c.77231T>A (p.Val25744Glu)
c.104426T>A (p.Val34809Glu)
c.99503T>A (p.Val33168Glu)
n.446+8553A>T
n.220-3543A>T
c.103523T>A (p.Val34508Glu)
c.77417T>A (p.Val25806Glu)
c.77276T>A (p.Val25759Glu)
c.103319T>A (p.Val34440Glu)
c.98717T>A (p.Val32906Glu)
c.98714T>A (p.Val32905Glu)
c.95756T>A (p.Val31919Glu)
c.77372T>A (p.Val25791Glu)
c.98867T>A (p.Val32956Glu)
c.98864T>A (p.Val32955Glu)
c.98297T>A (p.Val32766Glu)
c.95639T>A (p.Val31880Glu)
c.95558T>A (p.Val31853Glu)
c.77321T>A (p.Val25774Glu)
c.67175T>A (p.Val22392Glu)
2g.178532189_178532194delinsACTTCTCA1310518115TTN,TTN-AS1c.96717_96722delinsAGAAGT (p.Arg32239=)
c.77802_77807delinsAGAAGT (p.Arg25934=)
c.77601_77606delinsAGAAGT (p.Arg25867=)
c.77226_77231delinsAGAAGT (p.Arg25742=)
c.104421_104426delinsAGAAGT (p.Arg34807=)
c.99498_99503delinsAGAAGT (p.Arg33166=)
n.446+8553_446+8558delinsACTTCT
n.220-3543_220-3538delinsACTTCT
c.103518_103523delinsAGAAGT (p.Arg34506=)
c.77412_77417delinsAGAAGT (p.Arg25804=)
c.77271_77276delinsAGAAGT (p.Arg25757=)
c.103314_103319delinsAGAAGT (p.Arg34438=)
c.98712_98717delinsAGAAGT (p.Arg32904=)
c.98709_98714delinsAGAAGT (p.Arg32903=)
c.95751_95756delinsAGAAGT (p.Arg31917=)
c.77367_77372delinsAGAAGT (p.Arg25789=)
c.98862_98867delinsAGAAGT (p.Arg32954=)
c.98859_98864delinsAGAAGT (p.Arg32953=)
c.98292_98297delinsAGAAGT (p.Arg32764=)
c.95634_95639delinsAGAAGT (p.Arg31878=)
c.95553_95558delinsAGAAGT (p.Arg31851=)
c.77316_77321delinsAGAAGT (p.Arg25772=)
c.67170_67175delinsAGAAGT (p.Arg22390=)
2g.178532190C>ACA349411760TTN,TTN-AS1c.96721G>T (p.Val32241Leu)
c.77806G>T (p.Val25936Leu)
c.77605G>T (p.Val25869Leu)
c.77230G>T (p.Val25744Leu)
c.104425G>T (p.Val34809Leu)
c.99502G>T (p.Val33168Leu)
n.446+8554C>A
n.220-3542C>A
c.103522G>T (p.Val34508Leu)
c.77416G>T (p.Val25806Leu)
c.77275G>T (p.Val25759Leu)
c.103318G>T (p.Val34440Leu)
c.98716G>T (p.Val32906Leu)
c.98713G>T (p.Val32905Leu)
c.95755G>T (p.Val31919Leu)
c.77371G>T (p.Val25791Leu)
c.98866G>T (p.Val32956Leu)
c.98863G>T (p.Val32955Leu)
c.98296G>T (p.Val32766Leu)
c.95638G>T (p.Val31880Leu)
c.95557G>T (p.Val31853Leu)
c.77320G>T (p.Val25774Leu)
c.67174G>T (p.Val22392Leu)
2g.178532190C=CA1310518116TTN,TTN-AS1c.96721G= (p.Val32241=)
c.77806G= (p.Val25936=)
c.77605G= (p.Val25869=)
c.77230G= (p.Val25744=)
c.104425G= (p.Val34809=)
c.99502G= (p.Val33168=)
n.446+8554C=
n.220-3542C=
c.103522G= (p.Val34508=)
c.77416G= (p.Val25806=)
c.77275G= (p.Val25759=)
c.103318G= (p.Val34440=)
c.98716G= (p.Val32906=)
c.98713G= (p.Val32905=)
c.95755G= (p.Val31919=)
c.77371G= (p.Val25791=)
c.98866G= (p.Val32956=)
c.98863G= (p.Val32955=)
c.98296G= (p.Val32766=)
c.95638G= (p.Val31880=)
c.95557G= (p.Val31853=)
c.77320G= (p.Val25774=)
c.67174G= (p.Val22392=)
2g.178532190C>GCA1985429TTN,TTN-AS1c.96721G>C (p.Val32241Leu)
c.77806G>C (p.Val25936Leu)
c.77605G>C (p.Val25869Leu)
c.77230G>C (p.Val25744Leu)
c.104425G>C (p.Val34809Leu)
c.99502G>C (p.Val33168Leu)
n.446+8554C>G
n.220-3542C>G
c.103522G>C (p.Val34508Leu)
c.77416G>C (p.Val25806Leu)
c.77275G>C (p.Val25759Leu)
c.103318G>C (p.Val34440Leu)
c.98716G>C (p.Val32906Leu)
c.98713G>C (p.Val32905Leu)
c.95755G>C (p.Val31919Leu)
c.77371G>C (p.Val25791Leu)
c.98866G>C (p.Val32956Leu)
c.98863G>C (p.Val32955Leu)
c.98296G>C (p.Val32766Leu)
c.95638G>C (p.Val31880Leu)
c.95557G>C (p.Val31853Leu)
c.77320G>C (p.Val25774Leu)
c.67174G>C (p.Val22392Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532190C>TCA1985428TTN,TTN-AS1c.96721G>A (p.Val32241Met)
c.77806G>A (p.Val25936Met)
c.77605G>A (p.Val25869Met)
c.77230G>A (p.Val25744Met)
c.104425G>A (p.Val34809Met)
c.99502G>A (p.Val33168Met)
n.446+8554C>T
n.220-3542C>T
c.103522G>A (p.Val34508Met)
c.77416G>A (p.Val25806Met)
c.77275G>A (p.Val25759Met)
c.103318G>A (p.Val34440Met)
c.98716G>A (p.Val32906Met)
c.98713G>A (p.Val32905Met)
c.95755G>A (p.Val31919Met)
c.77371G>A (p.Val25791Met)
c.98866G>A (p.Val32956Met)
c.98863G>A (p.Val32955Met)
c.98296G>A (p.Val32766Met)
c.95638G>A (p.Val31880Met)
c.95557G>A (p.Val31853Met)
c.77320G>A (p.Val25774Met)
c.67174G>A (p.Val22392Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532193_178532197delCA1310518117TTN,TTN-AS1c.96717_96721del (p.Arg32239SerfsTer8)
c.77802_77806del (p.Arg25934SerfsTer8)
c.77601_77605del (p.Arg25867SerfsTer8)
c.77226_77230del (p.Arg25742SerfsTer8)
c.104421_104425del (p.Arg34807SerfsTer8)
c.99498_99502del (p.Arg33166SerfsTer8)
n.446+8557_446+8561del
n.220-3539_220-3535del
c.103518_103522del (p.Arg34506SerfsTer8)
c.77412_77416del (p.Arg25804SerfsTer8)
c.77271_77275del (p.Arg25757SerfsTer8)
c.103314_103318del (p.Arg34438SerfsTer8)
c.98712_98716del (p.Arg32904SerfsTer8)
c.98709_98713del (p.Arg32903SerfsTer8)
c.95751_95755del (p.Arg31917SerfsTer8)
c.77367_77371del (p.Arg25789SerfsTer8)
c.98862_98866del (p.Arg32954SerfsTer8)
c.98859_98863del (p.Arg32953SerfsTer8)
c.98292_98296del (p.Arg32764SerfsTer8)
c.95634_95638del (p.Arg31878SerfsTer8)
c.95553_95557del (p.Arg31851SerfsTer8)
c.77316_77320del (p.Arg25772SerfsTer8)
c.67170_67174del (p.Arg22390SerfsTer8)
 ClinVar dbSNP
2g.178532191T>ACA349411761TTN,TTN-AS1c.96720A>T (p.Glu32240Asp)
c.77805A>T (p.Glu25935Asp)
c.77604A>T (p.Glu25868Asp)
c.77229A>T (p.Glu25743Asp)
c.104424A>T (p.Glu34808Asp)
c.99501A>T (p.Glu33167Asp)
n.446+8555T>A
n.220-3541T>A
c.103521A>T (p.Glu34507Asp)
c.77415A>T (p.Glu25805Asp)
c.77274A>T (p.Glu25758Asp)
c.103317A>T (p.Glu34439Asp)
c.98715A>T (p.Glu32905Asp)
c.98712A>T (p.Glu32904Asp)
c.95754A>T (p.Glu31918Asp)
c.77370A>T (p.Glu25790Asp)
c.98865A>T (p.Glu32955Asp)
c.98862A>T (p.Glu32954Asp)
c.98295A>T (p.Glu32765Asp)
c.95637A>T (p.Glu31879Asp)
c.95556A>T (p.Glu31852Asp)
c.77319A>T (p.Glu25773Asp)
c.67173A>T (p.Glu22391Asp)
2g.178532191T>CCA430235920TTN,TTN-AS1c.96720A>G (p.Glu32240=)
c.77805A>G (p.Glu25935=)
c.77604A>G (p.Glu25868=)
c.77229A>G (p.Glu25743=)
c.104424A>G (p.Glu34808=)
c.99501A>G (p.Glu33167=)
n.446+8555T>C
n.220-3541T>C
c.103521A>G (p.Glu34507=)
c.77415A>G (p.Glu25805=)
c.77274A>G (p.Glu25758=)
c.103317A>G (p.Glu34439=)
c.98715A>G (p.Glu32905=)
c.98712A>G (p.Glu32904=)
c.95754A>G (p.Glu31918=)
c.77370A>G (p.Glu25790=)
c.98865A>G (p.Glu32955=)
c.98862A>G (p.Glu32954=)
c.98295A>G (p.Glu32765=)
c.95637A>G (p.Glu31879=)
c.95556A>G (p.Glu31852=)
c.77319A>G (p.Glu25773=)
c.67173A>G (p.Glu22391=)
2g.178532191T>GCA349411762TTN,TTN-AS1c.96720A>C (p.Glu32240Asp)
c.77805A>C (p.Glu25935Asp)
c.77604A>C (p.Glu25868Asp)
c.77229A>C (p.Glu25743Asp)
c.104424A>C (p.Glu34808Asp)
c.99501A>C (p.Glu33167Asp)
n.446+8555T>G
n.220-3541T>G
c.103521A>C (p.Glu34507Asp)
c.77415A>C (p.Glu25805Asp)
c.77274A>C (p.Glu25758Asp)
c.103317A>C (p.Glu34439Asp)
c.98715A>C (p.Glu32905Asp)
c.98712A>C (p.Glu32904Asp)
c.95754A>C (p.Glu31918Asp)
c.77370A>C (p.Glu25790Asp)
c.98865A>C (p.Glu32955Asp)
c.98862A>C (p.Glu32954Asp)
c.98295A>C (p.Glu32765Asp)
c.95637A>C (p.Glu31879Asp)
c.95556A>C (p.Glu31852Asp)
c.77319A>C (p.Glu25773Asp)
c.67173A>C (p.Glu22391Asp)
2g.178532192T>ACA349411765TTN,TTN-AS1c.96719A>T (p.Glu32240Val)
c.77804A>T (p.Glu25935Val)
c.77603A>T (p.Glu25868Val)
c.77228A>T (p.Glu25743Val)
c.104423A>T (p.Glu34808Val)
c.99500A>T (p.Glu33167Val)
n.446+8556T>A
n.220-3540T>A
c.103520A>T (p.Glu34507Val)
c.77414A>T (p.Glu25805Val)
c.77273A>T (p.Glu25758Val)
c.103316A>T (p.Glu34439Val)
c.98714A>T (p.Glu32905Val)
c.98711A>T (p.Glu32904Val)
c.95753A>T (p.Glu31918Val)
c.77369A>T (p.Glu25790Val)
c.98864A>T (p.Glu32955Val)
c.98861A>T (p.Glu32954Val)
c.98294A>T (p.Glu32765Val)
c.95636A>T (p.Glu31879Val)
c.95555A>T (p.Glu31852Val)
c.77318A>T (p.Glu25773Val)
c.67172A>T (p.Glu22391Val)
2g.178532192T>CCA349411764TTN,TTN-AS1c.96719A>G (p.Glu32240Gly)
c.77804A>G (p.Glu25935Gly)
c.77603A>G (p.Glu25868Gly)
c.77228A>G (p.Glu25743Gly)
c.104423A>G (p.Glu34808Gly)
c.99500A>G (p.Glu33167Gly)
n.446+8556T>C
n.220-3540T>C
c.103520A>G (p.Glu34507Gly)
c.77414A>G (p.Glu25805Gly)
c.77273A>G (p.Glu25758Gly)
c.103316A>G (p.Glu34439Gly)
c.98714A>G (p.Glu32905Gly)
c.98711A>G (p.Glu32904Gly)
c.95753A>G (p.Glu31918Gly)
c.77369A>G (p.Glu25790Gly)
c.98864A>G (p.Glu32955Gly)
c.98861A>G (p.Glu32954Gly)
c.98294A>G (p.Glu32765Gly)
c.95636A>G (p.Glu31879Gly)
c.95555A>G (p.Glu31852Gly)
c.77318A>G (p.Glu25773Gly)
c.67172A>G (p.Glu22391Gly)
2g.178532192T>GCA349411763TTN,TTN-AS1c.96719A>C (p.Glu32240Ala)
c.77804A>C (p.Glu25935Ala)
c.77603A>C (p.Glu25868Ala)
c.77228A>C (p.Glu25743Ala)
c.104423A>C (p.Glu34808Ala)
c.99500A>C (p.Glu33167Ala)
n.446+8556T>G
n.220-3540T>G
c.103520A>C (p.Glu34507Ala)
c.77414A>C (p.Glu25805Ala)
c.77273A>C (p.Glu25758Ala)
c.103316A>C (p.Glu34439Ala)
c.98714A>C (p.Glu32905Ala)
c.98711A>C (p.Glu32904Ala)
c.95753A>C (p.Glu31918Ala)
c.77369A>C (p.Glu25790Ala)
c.98864A>C (p.Glu32955Ala)
c.98861A>C (p.Glu32954Ala)
c.98294A>C (p.Glu32765Ala)
c.95636A>C (p.Glu31879Ala)
c.95555A>C (p.Glu31852Ala)
c.77318A>C (p.Glu25773Ala)
c.67172A>C (p.Glu22391Ala)
2g.178532193C>ACA349411766TTN,TTN-AS1c.96718G>T (p.Glu32240Ter)
c.77803G>T (p.Glu25935Ter)
c.77602G>T (p.Glu25868Ter)
c.77227G>T (p.Glu25743Ter)
c.104422G>T (p.Glu34808Ter)
c.99499G>T (p.Glu33167Ter)
n.446+8557C>A
n.220-3539C>A
c.103519G>T (p.Glu34507Ter)
c.77413G>T (p.Glu25805Ter)
c.77272G>T (p.Glu25758Ter)
c.103315G>T (p.Glu34439Ter)
c.98713G>T (p.Glu32905Ter)
c.98710G>T (p.Glu32904Ter)
c.95752G>T (p.Glu31918Ter)
c.77368G>T (p.Glu25790Ter)
c.98863G>T (p.Glu32955Ter)
c.98860G>T (p.Glu32954Ter)
c.98293G>T (p.Glu32765Ter)
c.95635G>T (p.Glu31879Ter)
c.95554G>T (p.Glu31852Ter)
c.77317G>T (p.Glu25773Ter)
c.67171G>T (p.Glu22391Ter)
2g.178532193C=CA1310518118TTN,TTN-AS1c.96718G= (p.Glu32240=)
c.77803G= (p.Glu25935=)
c.77602G= (p.Glu25868=)
c.77227G= (p.Glu25743=)
c.104422G= (p.Glu34808=)
c.99499G= (p.Glu33167=)
n.446+8557C=
n.220-3539C=
c.103519G= (p.Glu34507=)
c.77413G= (p.Glu25805=)
c.77272G= (p.Glu25758=)
c.103315G= (p.Glu34439=)
c.98713G= (p.Glu32905=)
c.98710G= (p.Glu32904=)
c.95752G= (p.Glu31918=)
c.77368G= (p.Glu25790=)
c.98863G= (p.Glu32955=)
c.98860G= (p.Glu32954=)
c.98293G= (p.Glu32765=)
c.95635G= (p.Glu31879=)
c.95554G= (p.Glu31852=)
c.77317G= (p.Glu25773=)
c.67171G= (p.Glu22391=)
2g.178532193C>GCA349411767TTN,TTN-AS1c.96718G>C (p.Glu32240Gln)
c.77803G>C (p.Glu25935Gln)
c.77602G>C (p.Glu25868Gln)
c.77227G>C (p.Glu25743Gln)
c.104422G>C (p.Glu34808Gln)
c.99499G>C (p.Glu33167Gln)
n.446+8557C>G
n.220-3539C>G
c.103519G>C (p.Glu34507Gln)
c.77413G>C (p.Glu25805Gln)
c.77272G>C (p.Glu25758Gln)
c.103315G>C (p.Glu34439Gln)
c.98713G>C (p.Glu32905Gln)
c.98710G>C (p.Glu32904Gln)
c.95752G>C (p.Glu31918Gln)
c.77368G>C (p.Glu25790Gln)
c.98863G>C (p.Glu32955Gln)
c.98860G>C (p.Glu32954Gln)
c.98293G>C (p.Glu32765Gln)
c.95635G>C (p.Glu31879Gln)
c.95554G>C (p.Glu31852Gln)
c.77317G>C (p.Glu25773Gln)
c.67171G>C (p.Glu22391Gln)
 COSMIC COSMIC COSMIC
2g.178532193C>TCA349411768TTN,TTN-AS1c.96718G>A (p.Glu32240Lys)
c.77803G>A (p.Glu25935Lys)
c.77602G>A (p.Glu25868Lys)
c.77227G>A (p.Glu25743Lys)
c.104422G>A (p.Glu34808Lys)
c.99499G>A (p.Glu33167Lys)
n.446+8557C>T
n.220-3539C>T
c.103519G>A (p.Glu34507Lys)
c.77413G>A (p.Glu25805Lys)
c.77272G>A (p.Glu25758Lys)
c.103315G>A (p.Glu34439Lys)
c.98713G>A (p.Glu32905Lys)
c.98710G>A (p.Glu32904Lys)
c.95752G>A (p.Glu31918Lys)
c.77368G>A (p.Glu25790Lys)
c.98863G>A (p.Glu32955Lys)
c.98860G>A (p.Glu32954Lys)
c.98293G>A (p.Glu32765Lys)
c.95635G>A (p.Glu31879Lys)
c.95554G>A (p.Glu31852Lys)
c.77317G>A (p.Glu25773Lys)
c.67171G>A (p.Glu22391Lys)
 ClinVar dbSNP
2g.178532194T>ACA349411769TTN,TTN-AS1c.96717A>T (p.Arg32239Ser)
c.77802A>T (p.Arg25934Ser)
c.77601A>T (p.Arg25867Ser)
c.77226A>T (p.Arg25742Ser)
c.104421A>T (p.Arg34807Ser)
c.99498A>T (p.Arg33166Ser)
n.446+8558T>A
n.220-3538T>A
c.103518A>T (p.Arg34506Ser)
c.77412A>T (p.Arg25804Ser)
c.77271A>T (p.Arg25757Ser)
c.103314A>T (p.Arg34438Ser)
c.98712A>T (p.Arg32904Ser)
c.98709A>T (p.Arg32903Ser)
c.95751A>T (p.Arg31917Ser)
c.77367A>T (p.Arg25789Ser)
c.98862A>T (p.Arg32954Ser)
c.98859A>T (p.Arg32953Ser)
c.98292A>T (p.Arg32764Ser)
c.95634A>T (p.Arg31878Ser)
c.95553A>T (p.Arg31851Ser)
c.77316A>T (p.Arg25772Ser)
c.67170A>T (p.Arg22390Ser)
2g.178532194T>CCA430235921TTN,TTN-AS1c.96717A>G (p.Arg32239=)
c.77802A>G (p.Arg25934=)
c.77601A>G (p.Arg25867=)
c.77226A>G (p.Arg25742=)
c.104421A>G (p.Arg34807=)
c.99498A>G (p.Arg33166=)
n.446+8558T>C
n.220-3538T>C
c.103518A>G (p.Arg34506=)
c.77412A>G (p.Arg25804=)
c.77271A>G (p.Arg25757=)
c.103314A>G (p.Arg34438=)
c.98712A>G (p.Arg32904=)
c.98709A>G (p.Arg32903=)
c.95751A>G (p.Arg31917=)
c.77367A>G (p.Arg25789=)
c.98862A>G (p.Arg32954=)
c.98859A>G (p.Arg32953=)
c.98292A>G (p.Arg32764=)
c.95634A>G (p.Arg31878=)
c.95553A>G (p.Arg31851=)
c.77316A>G (p.Arg25772=)
c.67170A>G (p.Arg22390=)
2g.178532194T>GCA349411770TTN,TTN-AS1c.96717A>C (p.Arg32239Ser)
c.77802A>C (p.Arg25934Ser)
c.77601A>C (p.Arg25867Ser)
c.77226A>C (p.Arg25742Ser)
c.104421A>C (p.Arg34807Ser)
c.99498A>C (p.Arg33166Ser)
n.446+8558T>G
n.220-3538T>G
c.103518A>C (p.Arg34506Ser)
c.77412A>C (p.Arg25804Ser)
c.77271A>C (p.Arg25757Ser)
c.103314A>C (p.Arg34438Ser)
c.98712A>C (p.Arg32904Ser)
c.98709A>C (p.Arg32903Ser)
c.95751A>C (p.Arg31917Ser)
c.77367A>C (p.Arg25789Ser)
c.98862A>C (p.Arg32954Ser)
c.98859A>C (p.Arg32953Ser)
c.98292A>C (p.Arg32764Ser)
c.95634A>C (p.Arg31878Ser)
c.95553A>C (p.Arg31851Ser)
c.77316A>C (p.Arg25772Ser)
c.67170A>C (p.Arg22390Ser)
 ClinVar dbSNP
2g.178532195C>ACA349411772TTN,TTN-AS1c.96716G>T (p.Arg32239Ile)
c.77801G>T (p.Arg25934Ile)
c.77600G>T (p.Arg25867Ile)
c.77225G>T (p.Arg25742Ile)
c.104420G>T (p.Arg34807Ile)
c.99497G>T (p.Arg33166Ile)
n.446+8559C>A
n.220-3537C>A
c.103517G>T (p.Arg34506Ile)
c.77411G>T (p.Arg25804Ile)
c.77270G>T (p.Arg25757Ile)
c.103313G>T (p.Arg34438Ile)
c.98711G>T (p.Arg32904Ile)
c.98708G>T (p.Arg32903Ile)
c.95750G>T (p.Arg31917Ile)
c.77366G>T (p.Arg25789Ile)
c.98861G>T (p.Arg32954Ile)
c.98858G>T (p.Arg32953Ile)
c.98291G>T (p.Arg32764Ile)
c.95633G>T (p.Arg31878Ile)
c.95552G>T (p.Arg31851Ile)
c.77315G>T (p.Arg25772Ile)
c.67169G>T (p.Arg22390Ile)
2g.178532195C=CA1310518119TTN,TTN-AS1c.96716G= (p.Arg32239=)
c.77801G= (p.Arg25934=)
c.77600G= (p.Arg25867=)
c.77225G= (p.Arg25742=)
c.104420G= (p.Arg34807=)
c.99497G= (p.Arg33166=)
n.446+8559C=
n.220-3537C=
c.103517G= (p.Arg34506=)
c.77411G= (p.Arg25804=)
c.77270G= (p.Arg25757=)
c.103313G= (p.Arg34438=)
c.98711G= (p.Arg32904=)
c.98708G= (p.Arg32903=)
c.95750G= (p.Arg31917=)
c.77366G= (p.Arg25789=)
c.98861G= (p.Arg32954=)
c.98858G= (p.Arg32953=)
c.98291G= (p.Arg32764=)
c.95633G= (p.Arg31878=)
c.95552G= (p.Arg31851=)
c.77315G= (p.Arg25772=)
c.67169G= (p.Arg22390=)
2g.178532195C>GCA60956233TTN,TTN-AS1c.96716G>C (p.Arg32239Thr)
c.77801G>C (p.Arg25934Thr)
c.77600G>C (p.Arg25867Thr)
c.77225G>C (p.Arg25742Thr)
c.104420G>C (p.Arg34807Thr)
c.99497G>C (p.Arg33166Thr)
n.446+8559C>G
n.220-3537C>G
c.103517G>C (p.Arg34506Thr)
c.77411G>C (p.Arg25804Thr)
c.77270G>C (p.Arg25757Thr)
c.103313G>C (p.Arg34438Thr)
c.98711G>C (p.Arg32904Thr)
c.98708G>C (p.Arg32903Thr)
c.95750G>C (p.Arg31917Thr)
c.77366G>C (p.Arg25789Thr)
c.98861G>C (p.Arg32954Thr)
c.98858G>C (p.Arg32953Thr)
c.98291G>C (p.Arg32764Thr)
c.95633G>C (p.Arg31878Thr)
c.95552G>C (p.Arg31851Thr)
c.77315G>C (p.Arg25772Thr)
c.67169G>C (p.Arg22390Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178532195C>TCA349411773TTN,TTN-AS1c.96716G>A (p.Arg32239Lys)
c.77801G>A (p.Arg25934Lys)
c.77600G>A (p.Arg25867Lys)
c.77225G>A (p.Arg25742Lys)
c.104420G>A (p.Arg34807Lys)
c.99497G>A (p.Arg33166Lys)
n.446+8559C>T
n.220-3537C>T
c.103517G>A (p.Arg34506Lys)
c.77411G>A (p.Arg25804Lys)
c.77270G>A (p.Arg25757Lys)
c.103313G>A (p.Arg34438Lys)
c.98711G>A (p.Arg32904Lys)
c.98708G>A (p.Arg32903Lys)
c.95750G>A (p.Arg31917Lys)
c.77366G>A (p.Arg25789Lys)
c.98861G>A (p.Arg32954Lys)
c.98858G>A (p.Arg32953Lys)
c.98291G>A (p.Arg32764Lys)
c.95633G>A (p.Arg31878Lys)
c.95552G>A (p.Arg31851Lys)
c.77315G>A (p.Arg25772Lys)
c.67169G>A (p.Arg22390Lys)
 ClinVar dbSNP gnomAD v4
2g.178532195_178532197delinsCTTCA1310518120TTN,TTN-AS1c.96714_96716delinsAAG (p.Gln32238=)
c.77799_77801delinsAAG (p.Gln25933=)
c.77598_77600delinsAAG (p.Gln25866=)
c.77223_77225delinsAAG (p.Gln25741=)
c.104418_104420delinsAAG (p.Gln34806=)
c.99495_99497delinsAAG (p.Gln33165=)
n.446+8559_446+8561delinsCTT
n.220-3537_220-3535delinsCTT
c.103515_103517delinsAAG (p.Gln34505=)
c.77409_77411delinsAAG (p.Gln25803=)
c.77268_77270delinsAAG (p.Gln25756=)
c.103311_103313delinsAAG (p.Gln34437=)
c.98709_98711delinsAAG (p.Gln32903=)
c.98706_98708delinsAAG (p.Gln32902=)
c.95748_95750delinsAAG (p.Gln31916=)
c.77364_77366delinsAAG (p.Gln25788=)
c.98859_98861delinsAAG (p.Gln32953=)
c.98856_98858delinsAAG (p.Gln32952=)
c.98289_98291delinsAAG (p.Gln32763=)
c.95631_95633delinsAAG (p.Gln31877=)
c.95550_95552delinsAAG (p.Gln31850=)
c.77313_77315delinsAAG (p.Gln25771=)
c.67167_67169delinsAAG (p.Gln22389=)
2g.178532196T>ACA349411774TTN,TTN-AS1c.96715A>T (p.Arg32239Ter)
c.77800A>T (p.Arg25934Ter)
c.77599A>T (p.Arg25867Ter)
c.77224A>T (p.Arg25742Ter)
c.104419A>T (p.Arg34807Ter)
c.99496A>T (p.Arg33166Ter)
n.446+8560T>A
n.220-3536T>A
c.103516A>T (p.Arg34506Ter)
c.77410A>T (p.Arg25804Ter)
c.77269A>T (p.Arg25757Ter)
c.103312A>T (p.Arg34438Ter)
c.98710A>T (p.Arg32904Ter)
c.98707A>T (p.Arg32903Ter)
c.95749A>T (p.Arg31917Ter)
c.77365A>T (p.Arg25789Ter)
c.98860A>T (p.Arg32954Ter)
c.98857A>T (p.Arg32953Ter)
c.98290A>T (p.Arg32764Ter)
c.95632A>T (p.Arg31878Ter)
c.95551A>T (p.Arg31851Ter)
c.77314A>T (p.Arg25772Ter)
c.67168A>T (p.Arg22390Ter)
2g.178532196T>CCA349411775TTN,TTN-AS1c.96715A>G (p.Arg32239Gly)
c.77800A>G (p.Arg25934Gly)
c.77599A>G (p.Arg25867Gly)
c.77224A>G (p.Arg25742Gly)
c.104419A>G (p.Arg34807Gly)
c.99496A>G (p.Arg33166Gly)
n.446+8560T>C
n.220-3536T>C
c.103516A>G (p.Arg34506Gly)
c.77410A>G (p.Arg25804Gly)
c.77269A>G (p.Arg25757Gly)
c.103312A>G (p.Arg34438Gly)
c.98710A>G (p.Arg32904Gly)
c.98707A>G (p.Arg32903Gly)
c.95749A>G (p.Arg31917Gly)
c.77365A>G (p.Arg25789Gly)
c.98860A>G (p.Arg32954Gly)
c.98857A>G (p.Arg32953Gly)
c.98290A>G (p.Arg32764Gly)
c.95632A>G (p.Arg31878Gly)
c.95551A>G (p.Arg31851Gly)
c.77314A>G (p.Arg25772Gly)
c.67168A>G (p.Arg22390Gly)
2g.178532196T>GCA430235922TTN,TTN-AS1c.96715A>C (p.Arg32239=)
c.77800A>C (p.Arg25934=)
c.77599A>C (p.Arg25867=)
c.77224A>C (p.Arg25742=)
c.104419A>C (p.Arg34807=)
c.99496A>C (p.Arg33166=)
n.446+8560T>G
n.220-3536T>G
c.103516A>C (p.Arg34506=)
c.77410A>C (p.Arg25804=)
c.77269A>C (p.Arg25757=)
c.103312A>C (p.Arg34438=)
c.98710A>C (p.Arg32904=)
c.98707A>C (p.Arg32903=)
c.95749A>C (p.Arg31917=)
c.77365A>C (p.Arg25789=)
c.98860A>C (p.Arg32954=)
c.98857A>C (p.Arg32953=)
c.98290A>C (p.Arg32764=)
c.95632A>C (p.Arg31878=)
c.95551A>C (p.Arg31851=)
c.77314A>C (p.Arg25772=)
c.67168A>C (p.Arg22390=)
2g.178532197_178532198delCA538434979TTN,TTN-AS1c.96714_96715del (p.Glu32240SerfsTer8)
c.77799_77800del (p.Glu25935SerfsTer8)
c.77598_77599del (p.Glu25868SerfsTer8)
c.77223_77224del (p.Glu25743SerfsTer8)
c.104418_104419del (p.Glu34808SerfsTer8)
c.99495_99496del (p.Glu33167SerfsTer8)
n.446+8561_446+8562del
n.220-3535_220-3534del
c.103515_103516del (p.Glu34507SerfsTer8)
c.77409_77410del (p.Glu25805SerfsTer8)
c.77268_77269del (p.Glu25758SerfsTer8)
c.103311_103312del (p.Glu34439SerfsTer8)
c.98709_98710del (p.Glu32905SerfsTer8)
c.98706_98707del (p.Glu32904SerfsTer8)
c.95748_95749del (p.Glu31918SerfsTer8)
c.77364_77365del (p.Glu25790SerfsTer8)
c.98859_98860del (p.Glu32955SerfsTer8)
c.98856_98857del (p.Glu32954SerfsTer8)
c.98289_98290del (p.Glu32765SerfsTer8)
c.95631_95632del (p.Glu31879SerfsTer8)
c.95550_95551del (p.Glu31852SerfsTer8)
c.77313_77314del (p.Glu25773SerfsTer8)
c.67167_67168del (p.Glu22391SerfsTer8)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532197T>ACA349411776TTN,TTN-AS1c.96714A>T (p.Gln32238His)
c.77799A>T (p.Gln25933His)
c.77598A>T (p.Gln25866His)
c.77223A>T (p.Gln25741His)
c.104418A>T (p.Gln34806His)
c.99495A>T (p.Gln33165His)
n.446+8561T>A
n.220-3535T>A
c.103515A>T (p.Gln34505His)
c.77409A>T (p.Gln25803His)
c.77268A>T (p.Gln25756His)
c.103311A>T (p.Gln34437His)
c.98709A>T (p.Gln32903His)
c.98706A>T (p.Gln32902His)
c.95748A>T (p.Gln31916His)
c.77364A>T (p.Gln25788His)
c.98859A>T (p.Gln32953His)
c.98856A>T (p.Gln32952His)
c.98289A>T (p.Gln32763His)
c.95631A>T (p.Gln31877His)
c.95550A>T (p.Gln31850His)
c.77313A>T (p.Gln25771His)
c.67167A>T (p.Gln22389His)
2g.178532197T>CCA430235923TTN,TTN-AS1c.96714A>G (p.Gln32238=)
c.77799A>G (p.Gln25933=)
c.77598A>G (p.Gln25866=)
c.77223A>G (p.Gln25741=)
c.104418A>G (p.Gln34806=)
c.99495A>G (p.Gln33165=)
n.446+8561T>C
n.220-3535T>C
c.103515A>G (p.Gln34505=)
c.77409A>G (p.Gln25803=)
c.77268A>G (p.Gln25756=)
c.103311A>G (p.Gln34437=)
c.98709A>G (p.Gln32903=)
c.98706A>G (p.Gln32902=)
c.95748A>G (p.Gln31916=)
c.77364A>G (p.Gln25788=)
c.98859A>G (p.Gln32953=)
c.98856A>G (p.Gln32952=)
c.98289A>G (p.Gln32763=)
c.95631A>G (p.Gln31877=)
c.95550A>G (p.Gln31850=)
c.77313A>G (p.Gln25771=)
c.67167A>G (p.Gln22389=)
2g.178532197T>GCA349411777TTN,TTN-AS1c.96714A>C (p.Gln32238His)
c.77799A>C (p.Gln25933His)
c.77598A>C (p.Gln25866His)
c.77223A>C (p.Gln25741His)
c.104418A>C (p.Gln34806His)
c.99495A>C (p.Gln33165His)
n.446+8561T>G
n.220-3535T>G
c.103515A>C (p.Gln34505His)
c.77409A>C (p.Gln25803His)
c.77268A>C (p.Gln25756His)
c.103311A>C (p.Gln34437His)
c.98709A>C (p.Gln32903His)
c.98706A>C (p.Gln32902His)
c.95748A>C (p.Gln31916His)
c.77364A>C (p.Gln25788His)
c.98859A>C (p.Gln32953His)
c.98856A>C (p.Gln32952His)
c.98289A>C (p.Gln32763His)
c.95631A>C (p.Gln31877His)
c.95550A>C (p.Gln31850His)
c.77313A>C (p.Gln25771His)
c.67167A>C (p.Gln22389His)
2g.178532198T>ACA349411778TTN,TTN-AS1c.96713A>T (p.Gln32238Leu)
c.77798A>T (p.Gln25933Leu)
c.77597A>T (p.Gln25866Leu)
c.77222A>T (p.Gln25741Leu)
c.104417A>T (p.Gln34806Leu)
c.99494A>T (p.Gln33165Leu)
n.446+8562T>A
n.220-3534T>A
c.103514A>T (p.Gln34505Leu)
c.77408A>T (p.Gln25803Leu)
c.77267A>T (p.Gln25756Leu)
c.103310A>T (p.Gln34437Leu)
c.98708A>T (p.Gln32903Leu)
c.98705A>T (p.Gln32902Leu)
c.95747A>T (p.Gln31916Leu)
c.77363A>T (p.Gln25788Leu)
c.98858A>T (p.Gln32953Leu)
c.98855A>T (p.Gln32952Leu)
c.98288A>T (p.Gln32763Leu)
c.95630A>T (p.Gln31877Leu)
c.95549A>T (p.Gln31850Leu)
c.77312A>T (p.Gln25771Leu)
c.67166A>T (p.Gln22389Leu)
2g.178532198T>CCA349411779TTN,TTN-AS1c.96713A>G (p.Gln32238Arg)
c.77798A>G (p.Gln25933Arg)
c.77597A>G (p.Gln25866Arg)
c.77222A>G (p.Gln25741Arg)
c.104417A>G (p.Gln34806Arg)
c.99494A>G (p.Gln33165Arg)
n.446+8562T>C
n.220-3534T>C
c.103514A>G (p.Gln34505Arg)
c.77408A>G (p.Gln25803Arg)
c.77267A>G (p.Gln25756Arg)
c.103310A>G (p.Gln34437Arg)
c.98708A>G (p.Gln32903Arg)
c.98705A>G (p.Gln32902Arg)
c.95747A>G (p.Gln31916Arg)
c.77363A>G (p.Gln25788Arg)
c.98858A>G (p.Gln32953Arg)
c.98855A>G (p.Gln32952Arg)
c.98288A>G (p.Gln32763Arg)
c.95630A>G (p.Gln31877Arg)
c.95549A>G (p.Gln31850Arg)
c.77312A>G (p.Gln25771Arg)
c.67166A>G (p.Gln22389Arg)
2g.178532198T>GCA349411780TTN,TTN-AS1c.96713A>C (p.Gln32238Pro)
c.77798A>C (p.Gln25933Pro)
c.77597A>C (p.Gln25866Pro)
c.77222A>C (p.Gln25741Pro)
c.104417A>C (p.Gln34806Pro)
c.99494A>C (p.Gln33165Pro)
n.446+8562T>G
n.220-3534T>G
c.103514A>C (p.Gln34505Pro)
c.77408A>C (p.Gln25803Pro)
c.77267A>C (p.Gln25756Pro)
c.103310A>C (p.Gln34437Pro)
c.98708A>C (p.Gln32903Pro)
c.98705A>C (p.Gln32902Pro)
c.95747A>C (p.Gln31916Pro)
c.77363A>C (p.Gln25788Pro)
c.98858A>C (p.Gln32953Pro)
c.98855A>C (p.Gln32952Pro)
c.98288A>C (p.Gln32763Pro)
c.95630A>C (p.Gln31877Pro)
c.95549A>C (p.Gln31850Pro)
c.77312A>C (p.Gln25771Pro)
c.67166A>C (p.Gln22389Pro)
 ClinVar dbSNP
2g.178532198T=CA1310518121TTN,TTN-AS1c.96713A= (p.Gln32238=)
c.77798A= (p.Gln25933=)
c.77597A= (p.Gln25866=)
c.77222A= (p.Gln25741=)
c.104417A= (p.Gln34806=)
c.99494A= (p.Gln33165=)
n.446+8562T=
n.220-3534T=
c.103514A= (p.Gln34505=)
c.77408A= (p.Gln25803=)
c.77267A= (p.Gln25756=)
c.103310A= (p.Gln34437=)
c.98708A= (p.Gln32903=)
c.98705A= (p.Gln32902=)
c.95747A= (p.Gln31916=)
c.77363A= (p.Gln25788=)
c.98858A= (p.Gln32953=)
c.98855A= (p.Gln32952=)
c.98288A= (p.Gln32763=)
c.95630A= (p.Gln31877=)
c.95549A= (p.Gln31850=)
c.77312A= (p.Gln25771=)
c.67166A= (p.Gln22389=)
2g.178532199G>ACA349411781TTN,TTN-AS1c.96712C>T (p.Gln32238Ter)
c.77797C>T (p.Gln25933Ter)
c.77596C>T (p.Gln25866Ter)
c.77221C>T (p.Gln25741Ter)
c.104416C>T (p.Gln34806Ter)
c.99493C>T (p.Gln33165Ter)
n.446+8563G>A
n.220-3533G>A
c.103513C>T (p.Gln34505Ter)
c.77407C>T (p.Gln25803Ter)
c.77266C>T (p.Gln25756Ter)
c.103309C>T (p.Gln34437Ter)
c.98707C>T (p.Gln32903Ter)
c.98704C>T (p.Gln32902Ter)
c.95746C>T (p.Gln31916Ter)
c.77362C>T (p.Gln25788Ter)
c.98857C>T (p.Gln32953Ter)
c.98854C>T (p.Gln32952Ter)
c.98287C>T (p.Gln32763Ter)
c.95629C>T (p.Gln31877Ter)
c.95548C>T (p.Gln31850Ter)
c.77311C>T (p.Gln25771Ter)
c.67165C>T (p.Gln22389Ter)
2g.178532199G>CCA349411783TTN,TTN-AS1c.96712C>G (p.Gln32238Glu)
c.77797C>G (p.Gln25933Glu)
c.77596C>G (p.Gln25866Glu)
c.77221C>G (p.Gln25741Glu)
c.104416C>G (p.Gln34806Glu)
c.99493C>G (p.Gln33165Glu)
n.446+8563G>C
n.220-3533G>C
c.103513C>G (p.Gln34505Glu)
c.77407C>G (p.Gln25803Glu)
c.77266C>G (p.Gln25756Glu)
c.103309C>G (p.Gln34437Glu)
c.98707C>G (p.Gln32903Glu)
c.98704C>G (p.Gln32902Glu)
c.95746C>G (p.Gln31916Glu)
c.77362C>G (p.Gln25788Glu)
c.98857C>G (p.Gln32953Glu)
c.98854C>G (p.Gln32952Glu)
c.98287C>G (p.Gln32763Glu)
c.95629C>G (p.Gln31877Glu)
c.95548C>G (p.Gln31850Glu)
c.77311C>G (p.Gln25771Glu)
c.67165C>G (p.Gln22389Glu)
2g.178532199G>TCA349411782TTN,TTN-AS1c.96712C>A (p.Gln32238Lys)
c.77797C>A (p.Gln25933Lys)
c.77596C>A (p.Gln25866Lys)
c.77221C>A (p.Gln25741Lys)
c.104416C>A (p.Gln34806Lys)
c.99493C>A (p.Gln33165Lys)
n.446+8563G>T
n.220-3533G>T
c.103513C>A (p.Gln34505Lys)
c.77407C>A (p.Gln25803Lys)
c.77266C>A (p.Gln25756Lys)
c.103309C>A (p.Gln34437Lys)
c.98707C>A (p.Gln32903Lys)
c.98704C>A (p.Gln32902Lys)
c.95746C>A (p.Gln31916Lys)
c.77362C>A (p.Gln25788Lys)
c.98857C>A (p.Gln32953Lys)
c.98854C>A (p.Gln32952Lys)
c.98287C>A (p.Gln32763Lys)
c.95629C>A (p.Gln31877Lys)
c.95548C>A (p.Gln31850Lys)
c.77311C>A (p.Gln25771Lys)
c.67165C>A (p.Gln22389Lys)
2g.178532200T>ACA430235924TTN,TTN-AS1c.96711A>T (p.Arg32237=)
c.77796A>T (p.Arg25932=)
c.77595A>T (p.Arg25865=)
c.77220A>T (p.Arg25740=)
c.104415A>T (p.Arg34805=)
c.99492A>T (p.Arg33164=)
n.446+8564T>A
n.220-3532T>A
c.103512A>T (p.Arg34504=)
c.77406A>T (p.Arg25802=)
c.77265A>T (p.Arg25755=)
c.103308A>T (p.Arg34436=)
c.98706A>T (p.Arg32902=)
c.98703A>T (p.Arg32901=)
c.95745A>T (p.Arg31915=)
c.77361A>T (p.Arg25787=)
c.98856A>T (p.Arg32952=)
c.98853A>T (p.Arg32951=)
c.98286A>T (p.Arg32762=)
c.95628A>T (p.Arg31876=)
c.95547A>T (p.Arg31849=)
c.77310A>T (p.Arg25770=)
c.67164A>T (p.Arg22388=)
 ClinVar
2g.178532200T>CCA430235925TTN,TTN-AS1c.96711A>G (p.Arg32237=)
c.77796A>G (p.Arg25932=)
c.77595A>G (p.Arg25865=)
c.77220A>G (p.Arg25740=)
c.104415A>G (p.Arg34805=)
c.99492A>G (p.Arg33164=)
n.446+8564T>C
n.220-3532T>C
c.103512A>G (p.Arg34504=)
c.77406A>G (p.Arg25802=)
c.77265A>G (p.Arg25755=)
c.103308A>G (p.Arg34436=)
c.98706A>G (p.Arg32902=)
c.98703A>G (p.Arg32901=)
c.95745A>G (p.Arg31915=)
c.77361A>G (p.Arg25787=)
c.98856A>G (p.Arg32952=)
c.98853A>G (p.Arg32951=)
c.98286A>G (p.Arg32762=)
c.95628A>G (p.Arg31876=)
c.95547A>G (p.Arg31849=)
c.77310A>G (p.Arg25770=)
c.67164A>G (p.Arg22388=)
2g.178532200T>GCA430235926TTN,TTN-AS1c.96711A>C (p.Arg32237=)
c.77796A>C (p.Arg25932=)
c.77595A>C (p.Arg25865=)
c.77220A>C (p.Arg25740=)
c.104415A>C (p.Arg34805=)
c.99492A>C (p.Arg33164=)
n.446+8564T>G
n.220-3532T>G
c.103512A>C (p.Arg34504=)
c.77406A>C (p.Arg25802=)
c.77265A>C (p.Arg25755=)
c.103308A>C (p.Arg34436=)
c.98706A>C (p.Arg32902=)
c.98703A>C (p.Arg32901=)
c.95745A>C (p.Arg31915=)
c.77361A>C (p.Arg25787=)
c.98856A>C (p.Arg32952=)
c.98853A>C (p.Arg32951=)
c.98286A>C (p.Arg32762=)
c.95628A>C (p.Arg31876=)
c.95547A>C (p.Arg31849=)
c.77310A>C (p.Arg25770=)
c.67164A>C (p.Arg22388=)
2g.178532201C>ACA141674TTN,TTN-AS1c.96710G>T (p.Arg32237Leu)
c.77795G>T (p.Arg25932Leu)
c.77594G>T (p.Arg25865Leu)
c.77219G>T (p.Arg25740Leu)
c.104414G>T (p.Arg34805Leu)
c.99491G>T (p.Arg33164Leu)
n.446+8565C>A
n.220-3531C>A
c.103511G>T (p.Arg34504Leu)
c.77405G>T (p.Arg25802Leu)
c.77264G>T (p.Arg25755Leu)
c.103307G>T (p.Arg34436Leu)
c.98705G>T (p.Arg32902Leu)
c.98702G>T (p.Arg32901Leu)
c.95744G>T (p.Arg31915Leu)
c.77360G>T (p.Arg25787Leu)
c.98855G>T (p.Arg32952Leu)
c.98852G>T (p.Arg32951Leu)
c.98285G>T (p.Arg32762Leu)
c.95627G>T (p.Arg31876Leu)
c.95546G>T (p.Arg31849Leu)
c.77309G>T (p.Arg25770Leu)
c.67163G>T (p.Arg22388Leu)
 ClinVar dbSNP gnomAD v4
2g.178532201C=CA1310518122TTN,TTN-AS1c.96710G= (p.Arg32237=)
c.77795G= (p.Arg25932=)
c.77594G= (p.Arg25865=)
c.77219G= (p.Arg25740=)
c.104414G= (p.Arg34805=)
c.99491G= (p.Arg33164=)
n.446+8565C=
n.220-3531C=
c.103511G= (p.Arg34504=)
c.77405G= (p.Arg25802=)
c.77264G= (p.Arg25755=)
c.103307G= (p.Arg34436=)
c.98705G= (p.Arg32902=)
c.98702G= (p.Arg32901=)
c.95744G= (p.Arg31915=)
c.77360G= (p.Arg25787=)
c.98855G= (p.Arg32952=)
c.98852G= (p.Arg32951=)
c.98285G= (p.Arg32762=)
c.95627G= (p.Arg31876=)
c.95546G= (p.Arg31849=)
c.77309G= (p.Arg25770=)
c.67163G= (p.Arg22388=)
2g.178532201C>GCA349411784TTN,TTN-AS1c.96710G>C (p.Arg32237Pro)
c.77795G>C (p.Arg25932Pro)
c.77594G>C (p.Arg25865Pro)
c.77219G>C (p.Arg25740Pro)
c.104414G>C (p.Arg34805Pro)
c.99491G>C (p.Arg33164Pro)
n.446+8565C>G
n.220-3531C>G
c.103511G>C (p.Arg34504Pro)
c.77405G>C (p.Arg25802Pro)
c.77264G>C (p.Arg25755Pro)
c.103307G>C (p.Arg34436Pro)
c.98705G>C (p.Arg32902Pro)
c.98702G>C (p.Arg32901Pro)
c.95744G>C (p.Arg31915Pro)
c.77360G>C (p.Arg25787Pro)
c.98855G>C (p.Arg32952Pro)
c.98852G>C (p.Arg32951Pro)
c.98285G>C (p.Arg32762Pro)
c.95627G>C (p.Arg31876Pro)
c.95546G>C (p.Arg31849Pro)
c.77309G>C (p.Arg25770Pro)
c.67163G>C (p.Arg22388Pro)
 ClinVar dbSNP gnomAD v4
2g.178532201C>TCA311178TTN,TTN-AS1c.96710G>A (p.Arg32237Gln)
c.77795G>A (p.Arg25932Gln)
c.77594G>A (p.Arg25865Gln)
c.77219G>A (p.Arg25740Gln)
c.104414G>A (p.Arg34805Gln)
c.99491G>A (p.Arg33164Gln)
n.446+8565C>T
n.220-3531C>T
c.103511G>A (p.Arg34504Gln)
c.77405G>A (p.Arg25802Gln)
c.77264G>A (p.Arg25755Gln)
c.103307G>A (p.Arg34436Gln)
c.98705G>A (p.Arg32902Gln)
c.98702G>A (p.Arg32901Gln)
c.95744G>A (p.Arg31915Gln)
c.77360G>A (p.Arg25787Gln)
c.98855G>A (p.Arg32952Gln)
c.98852G>A (p.Arg32951Gln)
c.98285G>A (p.Arg32762Gln)
c.95627G>A (p.Arg31876Gln)
c.95546G>A (p.Arg31849Gln)
c.77309G>A (p.Arg25770Gln)
c.67163G>A (p.Arg22388Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532202G>ACA1985430TTN,TTN-AS1c.96709C>T (p.Arg32237Ter)
c.77794C>T (p.Arg25932Ter)
c.77593C>T (p.Arg25865Ter)
c.77218C>T (p.Arg25740Ter)
c.104413C>T (p.Arg34805Ter)
c.99490C>T (p.Arg33164Ter)
n.446+8566G>A
n.220-3530G>A
c.103510C>T (p.Arg34504Ter)
c.77404C>T (p.Arg25802Ter)
c.77263C>T (p.Arg25755Ter)
c.103306C>T (p.Arg34436Ter)
c.98704C>T (p.Arg32902Ter)
c.98701C>T (p.Arg32901Ter)
c.95743C>T (p.Arg31915Ter)
c.77359C>T (p.Arg25787Ter)
c.98854C>T (p.Arg32952Ter)
c.98851C>T (p.Arg32951Ter)
c.98284C>T (p.Arg32762Ter)
c.95626C>T (p.Arg31876Ter)
c.95545C>T (p.Arg31849Ter)
c.77308C>T (p.Arg25770Ter)
c.67162C>T (p.Arg22388Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532202G>CCA349411785TTN,TTN-AS1c.96709C>G (p.Arg32237Gly)
c.77794C>G (p.Arg25932Gly)
c.77593C>G (p.Arg25865Gly)
c.77218C>G (p.Arg25740Gly)
c.104413C>G (p.Arg34805Gly)
c.99490C>G (p.Arg33164Gly)
n.446+8566G>C
n.220-3530G>C
c.103510C>G (p.Arg34504Gly)
c.77404C>G (p.Arg25802Gly)
c.77263C>G (p.Arg25755Gly)
c.103306C>G (p.Arg34436Gly)
c.98704C>G (p.Arg32902Gly)
c.98701C>G (p.Arg32901Gly)
c.95743C>G (p.Arg31915Gly)
c.77359C>G (p.Arg25787Gly)
c.98854C>G (p.Arg32952Gly)
c.98851C>G (p.Arg32951Gly)
c.98284C>G (p.Arg32762Gly)
c.95626C>G (p.Arg31876Gly)
c.95545C>G (p.Arg31849Gly)
c.77308C>G (p.Arg25770Gly)
c.67162C>G (p.Arg22388Gly)
 ClinVar
2g.178532202G=CA1310518123TTN,TTN-AS1c.96709C= (p.Arg32237=)
c.77794C= (p.Arg25932=)
c.77593C= (p.Arg25865=)
c.77218C= (p.Arg25740=)
c.104413C= (p.Arg34805=)
c.99490C= (p.Arg33164=)
n.446+8566G=
n.220-3530G=
c.103510C= (p.Arg34504=)
c.77404C= (p.Arg25802=)
c.77263C= (p.Arg25755=)
c.103306C= (p.Arg34436=)
c.98704C= (p.Arg32902=)
c.98701C= (p.Arg32901=)
c.95743C= (p.Arg31915=)
c.77359C= (p.Arg25787=)
c.98854C= (p.Arg32952=)
c.98851C= (p.Arg32951=)
c.98284C= (p.Arg32762=)
c.95626C= (p.Arg31876=)
c.95545C= (p.Arg31849=)
c.77308C= (p.Arg25770=)
c.67162C= (p.Arg22388=)
2g.178532202G>TCA430235927TTN,TTN-AS1c.96709C>A (p.Arg32237=)
c.77794C>A (p.Arg25932=)
c.77593C>A (p.Arg25865=)
c.77218C>A (p.Arg25740=)
c.104413C>A (p.Arg34805=)
c.99490C>A (p.Arg33164=)
n.446+8566G>T
n.220-3530G>T
c.103510C>A (p.Arg34504=)
c.77404C>A (p.Arg25802=)
c.77263C>A (p.Arg25755=)
c.103306C>A (p.Arg34436=)
c.98704C>A (p.Arg32902=)
c.98701C>A (p.Arg32901=)
c.95743C>A (p.Arg31915=)
c.77359C>A (p.Arg25787=)
c.98854C>A (p.Arg32952=)
c.98851C>A (p.Arg32951=)
c.98284C>A (p.Arg32762=)
c.95626C>A (p.Arg31876=)
c.95545C>A (p.Arg31849=)
c.77308C>A (p.Arg25770=)
c.67162C>A (p.Arg22388=)
 ClinVar
2g.178532203C>ACA349411786TTN,TTN-AS1c.96708G>T (p.Arg32236Ser)
c.77793G>T (p.Arg25931Ser)
c.77592G>T (p.Arg25864Ser)
c.77217G>T (p.Arg25739Ser)
c.104412G>T (p.Arg34804Ser)
c.99489G>T (p.Arg33163Ser)
n.446+8567C>A
n.220-3529C>A
c.103509G>T (p.Arg34503Ser)
c.77403G>T (p.Arg25801Ser)
c.77262G>T (p.Arg25754Ser)
c.103305G>T (p.Arg34435Ser)
c.98703G>T (p.Arg32901Ser)
c.98700G>T (p.Arg32900Ser)
c.95742G>T (p.Arg31914Ser)
c.77358G>T (p.Arg25786Ser)
c.98853G>T (p.Arg32951Ser)
c.98850G>T (p.Arg32950Ser)
c.98283G>T (p.Arg32761Ser)
c.95625G>T (p.Arg31875Ser)
c.95544G>T (p.Arg31848Ser)
c.77307G>T (p.Arg25769Ser)
c.67161G>T (p.Arg22387Ser)
2g.178532203C=CA1310518124TTN,TTN-AS1c.96708G= (p.Arg32236=)
c.77793G= (p.Arg25931=)
c.77592G= (p.Arg25864=)
c.77217G= (p.Arg25739=)
c.104412G= (p.Arg34804=)
c.99489G= (p.Arg33163=)
n.446+8567C=
n.220-3529C=
c.103509G= (p.Arg34503=)
c.77403G= (p.Arg25801=)
c.77262G= (p.Arg25754=)
c.103305G= (p.Arg34435=)
c.98703G= (p.Arg32901=)
c.98700G= (p.Arg32900=)
c.95742G= (p.Arg31914=)
c.77358G= (p.Arg25786=)
c.98853G= (p.Arg32951=)
c.98850G= (p.Arg32950=)
c.98283G= (p.Arg32761=)
c.95625G= (p.Arg31875=)
c.95544G= (p.Arg31848=)
c.77307G= (p.Arg25769=)
c.67161G= (p.Arg22387=)
2g.178532203C>GCA349411787TTN,TTN-AS1c.96708G>C (p.Arg32236Ser)
c.77793G>C (p.Arg25931Ser)
c.77592G>C (p.Arg25864Ser)
c.77217G>C (p.Arg25739Ser)
c.104412G>C (p.Arg34804Ser)
c.99489G>C (p.Arg33163Ser)
n.446+8567C>G
n.220-3529C>G
c.103509G>C (p.Arg34503Ser)
c.77403G>C (p.Arg25801Ser)
c.77262G>C (p.Arg25754Ser)
c.103305G>C (p.Arg34435Ser)
c.98703G>C (p.Arg32901Ser)
c.98700G>C (p.Arg32900Ser)
c.95742G>C (p.Arg31914Ser)
c.77358G>C (p.Arg25786Ser)
c.98853G>C (p.Arg32951Ser)
c.98850G>C (p.Arg32950Ser)
c.98283G>C (p.Arg32761Ser)
c.95625G>C (p.Arg31875Ser)
c.95544G>C (p.Arg31848Ser)
c.77307G>C (p.Arg25769Ser)
c.67161G>C (p.Arg22387Ser)
2g.178532203C>TCA430235928TTN,TTN-AS1c.96708G>A (p.Arg32236=)
c.77793G>A (p.Arg25931=)
c.77592G>A (p.Arg25864=)
c.77217G>A (p.Arg25739=)
c.104412G>A (p.Arg34804=)
c.99489G>A (p.Arg33163=)
n.446+8567C>T
n.220-3529C>T
c.103509G>A (p.Arg34503=)
c.77403G>A (p.Arg25801=)
c.77262G>A (p.Arg25754=)
c.103305G>A (p.Arg34435=)
c.98703G>A (p.Arg32901=)
c.98700G>A (p.Arg32900=)
c.95742G>A (p.Arg31914=)
c.77358G>A (p.Arg25786=)
c.98853G>A (p.Arg32951=)
c.98850G>A (p.Arg32950=)
c.98283G>A (p.Arg32761=)
c.95625G>A (p.Arg31875=)
c.95544G>A (p.Arg31848=)
c.77307G>A (p.Arg25769=)
c.67161G>A (p.Arg22387=)
 ClinVar dbSNP gnomAD v4
2g.178532204C>ACA349411788TTN,TTN-AS1c.96707G>T (p.Arg32236Met)
c.77792G>T (p.Arg25931Met)
c.77591G>T (p.Arg25864Met)
c.77216G>T (p.Arg25739Met)
c.104411G>T (p.Arg34804Met)
c.99488G>T (p.Arg33163Met)
n.446+8568C>A
n.220-3528C>A
c.103508G>T (p.Arg34503Met)
c.77402G>T (p.Arg25801Met)
c.77261G>T (p.Arg25754Met)
c.103304G>T (p.Arg34435Met)
c.98702G>T (p.Arg32901Met)
c.98699G>T (p.Arg32900Met)
c.95741G>T (p.Arg31914Met)
c.77357G>T (p.Arg25786Met)
c.98852G>T (p.Arg32951Met)
c.98849G>T (p.Arg32950Met)
c.98282G>T (p.Arg32761Met)
c.95624G>T (p.Arg31875Met)
c.95543G>T (p.Arg31848Met)
c.77306G>T (p.Arg25769Met)
c.67160G>T (p.Arg22387Met)
2g.178532204C=CA1310518125TTN,TTN-AS1c.96707G= (p.Arg32236=)
c.77792G= (p.Arg25931=)
c.77591G= (p.Arg25864=)
c.77216G= (p.Arg25739=)
c.104411G= (p.Arg34804=)
c.99488G= (p.Arg33163=)
n.446+8568C=
n.220-3528C=
c.103508G= (p.Arg34503=)
c.77402G= (p.Arg25801=)
c.77261G= (p.Arg25754=)
c.103304G= (p.Arg34435=)
c.98702G= (p.Arg32901=)
c.98699G= (p.Arg32900=)
c.95741G= (p.Arg31914=)
c.77357G= (p.Arg25786=)
c.98852G= (p.Arg32951=)
c.98849G= (p.Arg32950=)
c.98282G= (p.Arg32761=)
c.95624G= (p.Arg31875=)
c.95543G= (p.Arg31848=)
c.77306G= (p.Arg25769=)
c.67160G= (p.Arg22387=)
2g.178532204C>GCA349411789TTN,TTN-AS1c.96707G>C (p.Arg32236Thr)
c.77792G>C (p.Arg25931Thr)
c.77591G>C (p.Arg25864Thr)
c.77216G>C (p.Arg25739Thr)
c.104411G>C (p.Arg34804Thr)
c.99488G>C (p.Arg33163Thr)
n.446+8568C>G
n.220-3528C>G
c.103508G>C (p.Arg34503Thr)
c.77402G>C (p.Arg25801Thr)
c.77261G>C (p.Arg25754Thr)
c.103304G>C (p.Arg34435Thr)
c.98702G>C (p.Arg32901Thr)
c.98699G>C (p.Arg32900Thr)
c.95741G>C (p.Arg31914Thr)
c.77357G>C (p.Arg25786Thr)
c.98852G>C (p.Arg32951Thr)
c.98849G>C (p.Arg32950Thr)
c.98282G>C (p.Arg32761Thr)
c.95624G>C (p.Arg31875Thr)
c.95543G>C (p.Arg31848Thr)
c.77306G>C (p.Arg25769Thr)
c.67160G>C (p.Arg22387Thr)
2g.178532204C>TCA349411790TTN,TTN-AS1c.96707G>A (p.Arg32236Lys)
c.77792G>A (p.Arg25931Lys)
c.77591G>A (p.Arg25864Lys)
c.77216G>A (p.Arg25739Lys)
c.104411G>A (p.Arg34804Lys)
c.99488G>A (p.Arg33163Lys)
n.446+8568C>T
n.220-3528C>T
c.103508G>A (p.Arg34503Lys)
c.77402G>A (p.Arg25801Lys)
c.77261G>A (p.Arg25754Lys)
c.103304G>A (p.Arg34435Lys)
c.98702G>A (p.Arg32901Lys)
c.98699G>A (p.Arg32900Lys)
c.95741G>A (p.Arg31914Lys)
c.77357G>A (p.Arg25786Lys)
c.98852G>A (p.Arg32951Lys)
c.98849G>A (p.Arg32950Lys)
c.98282G>A (p.Arg32761Lys)
c.95624G>A (p.Arg31875Lys)
c.95543G>A (p.Arg31848Lys)
c.77306G>A (p.Arg25769Lys)
c.67160G>A (p.Arg22387Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178532205T>ACA349411791TTN,TTN-AS1c.96706A>T (p.Arg32236Trp)
c.77791A>T (p.Arg25931Trp)
c.77590A>T (p.Arg25864Trp)
c.77215A>T (p.Arg25739Trp)
c.104410A>T (p.Arg34804Trp)
c.99487A>T (p.Arg33163Trp)
n.446+8569T>A
n.220-3527T>A
c.103507A>T (p.Arg34503Trp)
c.77401A>T (p.Arg25801Trp)
c.77260A>T (p.Arg25754Trp)
c.103303A>T (p.Arg34435Trp)
c.98701A>T (p.Arg32901Trp)
c.98698A>T (p.Arg32900Trp)
c.95740A>T (p.Arg31914Trp)
c.77356A>T (p.Arg25786Trp)
c.98851A>T (p.Arg32951Trp)
c.98848A>T (p.Arg32950Trp)
c.98281A>T (p.Arg32761Trp)
c.95623A>T (p.Arg31875Trp)
c.95542A>T (p.Arg31848Trp)
c.77305A>T (p.Arg25769Trp)
c.67159A>T (p.Arg22387Trp)
2g.178532205T>CCA349411792TTN,TTN-AS1c.96706A>G (p.Arg32236Gly)
c.77791A>G (p.Arg25931Gly)
c.77590A>G (p.Arg25864Gly)
c.77215A>G (p.Arg25739Gly)
c.104410A>G (p.Arg34804Gly)
c.99487A>G (p.Arg33163Gly)
n.446+8569T>C
n.220-3527T>C
c.103507A>G (p.Arg34503Gly)
c.77401A>G (p.Arg25801Gly)
c.77260A>G (p.Arg25754Gly)
c.103303A>G (p.Arg34435Gly)
c.98701A>G (p.Arg32901Gly)
c.98698A>G (p.Arg32900Gly)
c.95740A>G (p.Arg31914Gly)
c.77356A>G (p.Arg25786Gly)
c.98851A>G (p.Arg32951Gly)
c.98848A>G (p.Arg32950Gly)
c.98281A>G (p.Arg32761Gly)
c.95623A>G (p.Arg31875Gly)
c.95542A>G (p.Arg31848Gly)
c.77305A>G (p.Arg25769Gly)
c.67159A>G (p.Arg22387Gly)
2g.178532205T>GCA430235929TTN,TTN-AS1c.96706A>C (p.Arg32236=)
c.77791A>C (p.Arg25931=)
c.77590A>C (p.Arg25864=)
c.77215A>C (p.Arg25739=)
c.104410A>C (p.Arg34804=)
c.99487A>C (p.Arg33163=)
n.446+8569T>G
n.220-3527T>G
c.103507A>C (p.Arg34503=)
c.77401A>C (p.Arg25801=)
c.77260A>C (p.Arg25754=)
c.103303A>C (p.Arg34435=)
c.98701A>C (p.Arg32901=)
c.98698A>C (p.Arg32900=)
c.95740A>C (p.Arg31914=)
c.77356A>C (p.Arg25786=)
c.98851A>C (p.Arg32951=)
c.98848A>C (p.Arg32950=)
c.98281A>C (p.Arg32761=)
c.95623A>C (p.Arg31875=)
c.95542A>C (p.Arg31848=)
c.77305A>C (p.Arg25769=)
c.67159A>C (p.Arg22387=)
 ClinVar dbSNP gnomAD v4
2g.178532205T=CA1310518126TTN,TTN-AS1c.96706A= (p.Arg32236=)
c.77791A= (p.Arg25931=)
c.77590A= (p.Arg25864=)
c.77215A= (p.Arg25739=)
c.104410A= (p.Arg34804=)
c.99487A= (p.Arg33163=)
n.446+8569T=
n.220-3527T=
c.103507A= (p.Arg34503=)
c.77401A= (p.Arg25801=)
c.77260A= (p.Arg25754=)
c.103303A= (p.Arg34435=)
c.98701A= (p.Arg32901=)
c.98698A= (p.Arg32900=)
c.95740A= (p.Arg31914=)
c.77356A= (p.Arg25786=)
c.98851A= (p.Arg32951=)
c.98848A= (p.Arg32950=)
c.98281A= (p.Arg32761=)
c.95623A= (p.Arg31875=)
c.95542A= (p.Arg31848=)
c.77305A= (p.Arg25769=)
c.67159A= (p.Arg22387=)
2g.178532206T>ACA430235930TTN,TTN-AS1c.96705A>T (p.Ser32235=)
c.77790A>T (p.Ser25930=)
c.77589A>T (p.Ser25863=)
c.77214A>T (p.Ser25738=)
c.104409A>T (p.Ser34803=)
c.99486A>T (p.Ser33162=)
n.446+8570T>A
n.220-3526T>A
c.103506A>T (p.Ser34502=)
c.77400A>T (p.Ser25800=)
c.77259A>T (p.Ser25753=)
c.103302A>T (p.Ser34434=)
c.98700A>T (p.Ser32900=)
c.98697A>T (p.Ser32899=)
c.95739A>T (p.Ser31913=)
c.77355A>T (p.Ser25785=)
c.98850A>T (p.Ser32950=)
c.98847A>T (p.Ser32949=)
c.98280A>T (p.Ser32760=)
c.95622A>T (p.Ser31874=)
c.95541A>T (p.Ser31847=)
c.77304A>T (p.Ser25768=)
c.67158A>T (p.Ser22386=)
2g.178532206T>CCA430235931TTN,TTN-AS1c.96705A>G (p.Ser32235=)
c.77790A>G (p.Ser25930=)
c.77589A>G (p.Ser25863=)
c.77214A>G (p.Ser25738=)
c.104409A>G (p.Ser34803=)
c.99486A>G (p.Ser33162=)
n.446+8570T>C
n.220-3526T>C
c.103506A>G (p.Ser34502=)
c.77400A>G (p.Ser25800=)
c.77259A>G (p.Ser25753=)
c.103302A>G (p.Ser34434=)
c.98700A>G (p.Ser32900=)
c.98697A>G (p.Ser32899=)
c.95739A>G (p.Ser31913=)
c.77355A>G (p.Ser25785=)
c.98850A>G (p.Ser32950=)
c.98847A>G (p.Ser32949=)
c.98280A>G (p.Ser32760=)
c.95622A>G (p.Ser31874=)
c.95541A>G (p.Ser31847=)
c.77304A>G (p.Ser25768=)
c.67158A>G (p.Ser22386=)
2g.178532206T>GCA430235932TTN,TTN-AS1c.96705A>C (p.Ser32235=)
c.77790A>C (p.Ser25930=)
c.77589A>C (p.Ser25863=)
c.77214A>C (p.Ser25738=)
c.104409A>C (p.Ser34803=)
c.99486A>C (p.Ser33162=)
n.446+8570T>G
n.220-3526T>G
c.103506A>C (p.Ser34502=)
c.77400A>C (p.Ser25800=)
c.77259A>C (p.Ser25753=)
c.103302A>C (p.Ser34434=)
c.98700A>C (p.Ser32900=)
c.98697A>C (p.Ser32899=)
c.95739A>C (p.Ser31913=)
c.77355A>C (p.Ser25785=)
c.98850A>C (p.Ser32950=)
c.98847A>C (p.Ser32949=)
c.98280A>C (p.Ser32760=)
c.95622A>C (p.Ser31874=)
c.95541A>C (p.Ser31847=)
c.77304A>C (p.Ser25768=)
c.67158A>C (p.Ser22386=)
2g.178532207G>ACA349411793TTN,TTN-AS1c.96704C>T (p.Ser32235Leu)
c.77789C>T (p.Ser25930Leu)
c.77588C>T (p.Ser25863Leu)
c.77213C>T (p.Ser25738Leu)
c.104408C>T (p.Ser34803Leu)
c.99485C>T (p.Ser33162Leu)
n.446+8571G>A
n.220-3525G>A
c.103505C>T (p.Ser34502Leu)
c.77399C>T (p.Ser25800Leu)
c.77258C>T (p.Ser25753Leu)
c.103301C>T (p.Ser34434Leu)
c.98699C>T (p.Ser32900Leu)
c.98696C>T (p.Ser32899Leu)
c.95738C>T (p.Ser31913Leu)
c.77354C>T (p.Ser25785Leu)
c.98849C>T (p.Ser32950Leu)
c.98846C>T (p.Ser32949Leu)
c.98279C>T (p.Ser32760Leu)
c.95621C>T (p.Ser31874Leu)
c.95540C>T (p.Ser31847Leu)
c.77303C>T (p.Ser25768Leu)
c.67157C>T (p.Ser22386Leu)
2g.178532207G>CCA349411795TTN,TTN-AS1c.96704C>G (p.Ser32235Ter)
c.77789C>G (p.Ser25930Ter)
c.77588C>G (p.Ser25863Ter)
c.77213C>G (p.Ser25738Ter)
c.104408C>G (p.Ser34803Ter)
c.99485C>G (p.Ser33162Ter)
n.446+8571G>C
n.220-3525G>C
c.103505C>G (p.Ser34502Ter)
c.77399C>G (p.Ser25800Ter)
c.77258C>G (p.Ser25753Ter)
c.103301C>G (p.Ser34434Ter)
c.98699C>G (p.Ser32900Ter)
c.98696C>G (p.Ser32899Ter)
c.95738C>G (p.Ser31913Ter)
c.77354C>G (p.Ser25785Ter)
c.98849C>G (p.Ser32950Ter)
c.98846C>G (p.Ser32949Ter)
c.98279C>G (p.Ser32760Ter)
c.95621C>G (p.Ser31874Ter)
c.95540C>G (p.Ser31847Ter)
c.77303C>G (p.Ser25768Ter)
c.67157C>G (p.Ser22386Ter)
 ClinVar
2g.178532207G>TCA349411794TTN,TTN-AS1c.96704C>A (p.Ser32235Ter)
c.77789C>A (p.Ser25930Ter)
c.77588C>A (p.Ser25863Ter)
c.77213C>A (p.Ser25738Ter)
c.104408C>A (p.Ser34803Ter)
c.99485C>A (p.Ser33162Ter)
n.446+8571G>T
n.220-3525G>T
c.103505C>A (p.Ser34502Ter)
c.77399C>A (p.Ser25800Ter)
c.77258C>A (p.Ser25753Ter)
c.103301C>A (p.Ser34434Ter)
c.98699C>A (p.Ser32900Ter)
c.98696C>A (p.Ser32899Ter)
c.95738C>A (p.Ser31913Ter)
c.77354C>A (p.Ser25785Ter)
c.98849C>A (p.Ser32950Ter)
c.98846C>A (p.Ser32949Ter)
c.98279C>A (p.Ser32760Ter)
c.95621C>A (p.Ser31874Ter)
c.95540C>A (p.Ser31847Ter)
c.77303C>A (p.Ser25768Ter)
c.67157C>A (p.Ser22386Ter)
2g.178532208A>CCA349411796TTN,TTN-AS1c.96703T>G (p.Ser32235Ala)
c.77788T>G (p.Ser25930Ala)
c.77587T>G (p.Ser25863Ala)
c.77212T>G (p.Ser25738Ala)
c.104407T>G (p.Ser34803Ala)
c.99484T>G (p.Ser33162Ala)
n.446+8572A>C
n.220-3524A>C
c.103504T>G (p.Ser34502Ala)
c.77398T>G (p.Ser25800Ala)
c.77257T>G (p.Ser25753Ala)
c.103300T>G (p.Ser34434Ala)
c.98698T>G (p.Ser32900Ala)
c.98695T>G (p.Ser32899Ala)
c.95737T>G (p.Ser31913Ala)
c.77353T>G (p.Ser25785Ala)
c.98848T>G (p.Ser32950Ala)
c.98845T>G (p.Ser32949Ala)
c.98278T>G (p.Ser32760Ala)
c.95620T>G (p.Ser31874Ala)
c.95539T>G (p.Ser31847Ala)
c.77302T>G (p.Ser25768Ala)
c.67156T>G (p.Ser22386Ala)
2g.178532208A>GCA349411797TTN,TTN-AS1c.96703T>C (p.Ser32235Pro)
c.77788T>C (p.Ser25930Pro)
c.77587T>C (p.Ser25863Pro)
c.77212T>C (p.Ser25738Pro)
c.104407T>C (p.Ser34803Pro)
c.99484T>C (p.Ser33162Pro)
n.446+8572A>G
n.220-3524A>G
c.103504T>C (p.Ser34502Pro)
c.77398T>C (p.Ser25800Pro)
c.77257T>C (p.Ser25753Pro)
c.103300T>C (p.Ser34434Pro)
c.98698T>C (p.Ser32900Pro)
c.98695T>C (p.Ser32899Pro)
c.95737T>C (p.Ser31913Pro)
c.77353T>C (p.Ser25785Pro)
c.98848T>C (p.Ser32950Pro)
c.98845T>C (p.Ser32949Pro)
c.98278T>C (p.Ser32760Pro)
c.95620T>C (p.Ser31874Pro)
c.95539T>C (p.Ser31847Pro)
c.77302T>C (p.Ser25768Pro)
c.67156T>C (p.Ser22386Pro)
2g.178532208A>TCA349411798TTN,TTN-AS1c.96703T>A (p.Ser32235Thr)
c.77788T>A (p.Ser25930Thr)
c.77587T>A (p.Ser25863Thr)
c.77212T>A (p.Ser25738Thr)
c.104407T>A (p.Ser34803Thr)
c.99484T>A (p.Ser33162Thr)
n.446+8572A>T
n.220-3524A>T
c.103504T>A (p.Ser34502Thr)
c.77398T>A (p.Ser25800Thr)
c.77257T>A (p.Ser25753Thr)
c.103300T>A (p.Ser34434Thr)
c.98698T>A (p.Ser32900Thr)
c.98695T>A (p.Ser32899Thr)
c.95737T>A (p.Ser31913Thr)
c.77353T>A (p.Ser25785Thr)
c.98848T>A (p.Ser32950Thr)
c.98845T>A (p.Ser32949Thr)
c.98278T>A (p.Ser32760Thr)
c.95620T>A (p.Ser31874Thr)
c.95539T>A (p.Ser31847Thr)
c.77302T>A (p.Ser25768Thr)
c.67156T>A (p.Ser22386Thr)
2g.178532209T>ACA349411799TTN,TTN-AS1c.96702A>T (p.Lys32234Asn)
c.77787A>T (p.Lys25929Asn)
c.77586A>T (p.Lys25862Asn)
c.77211A>T (p.Lys25737Asn)
c.104406A>T (p.Lys34802Asn)
c.99483A>T (p.Lys33161Asn)
n.446+8573T>A
n.220-3523T>A
c.103503A>T (p.Lys34501Asn)
c.77397A>T (p.Lys25799Asn)
c.77256A>T (p.Lys25752Asn)
c.103299A>T (p.Lys34433Asn)
c.98697A>T (p.Lys32899Asn)
c.98694A>T (p.Lys32898Asn)
c.95736A>T (p.Lys31912Asn)
c.77352A>T (p.Lys25784Asn)
c.98847A>T (p.Lys32949Asn)
c.98844A>T (p.Lys32948Asn)
c.98277A>T (p.Lys32759Asn)
c.95619A>T (p.Lys31873Asn)
c.95538A>T (p.Lys31846Asn)
c.77301A>T (p.Lys25767Asn)
c.67155A>T (p.Lys22385Asn)
2g.178532209T>CCA430235933TTN,TTN-AS1c.96702A>G (p.Lys32234=)
c.77787A>G (p.Lys25929=)
c.77586A>G (p.Lys25862=)
c.77211A>G (p.Lys25737=)
c.104406A>G (p.Lys34802=)
c.99483A>G (p.Lys33161=)
n.446+8573T>C
n.220-3523T>C
c.103503A>G (p.Lys34501=)
c.77397A>G (p.Lys25799=)
c.77256A>G (p.Lys25752=)
c.103299A>G (p.Lys34433=)
c.98697A>G (p.Lys32899=)
c.98694A>G (p.Lys32898=)
c.95736A>G (p.Lys31912=)
c.77352A>G (p.Lys25784=)
c.98847A>G (p.Lys32949=)
c.98844A>G (p.Lys32948=)
c.98277A>G (p.Lys32759=)
c.95619A>G (p.Lys31873=)
c.95538A>G (p.Lys31846=)
c.77301A>G (p.Lys25767=)
c.67155A>G (p.Lys22385=)
 ClinVar
2g.178532209T>GCA349411800TTN,TTN-AS1c.96702A>C (p.Lys32234Asn)
c.77787A>C (p.Lys25929Asn)
c.77586A>C (p.Lys25862Asn)
c.77211A>C (p.Lys25737Asn)
c.104406A>C (p.Lys34802Asn)
c.99483A>C (p.Lys33161Asn)
n.446+8573T>G
n.220-3523T>G
c.103503A>C (p.Lys34501Asn)
c.77397A>C (p.Lys25799Asn)
c.77256A>C (p.Lys25752Asn)
c.103299A>C (p.Lys34433Asn)
c.98697A>C (p.Lys32899Asn)
c.98694A>C (p.Lys32898Asn)
c.95736A>C (p.Lys31912Asn)
c.77352A>C (p.Lys25784Asn)
c.98847A>C (p.Lys32949Asn)
c.98844A>C (p.Lys32948Asn)
c.98277A>C (p.Lys32759Asn)
c.95619A>C (p.Lys31873Asn)
c.95538A>C (p.Lys31846Asn)
c.77301A>C (p.Lys25767Asn)
c.67155A>C (p.Lys22385Asn)
2g.178532210T>ACA349411801TTN,TTN-AS1c.96701A>T (p.Lys32234Ile)
c.77786A>T (p.Lys25929Ile)
c.77585A>T (p.Lys25862Ile)
c.77210A>T (p.Lys25737Ile)
c.104405A>T (p.Lys34802Ile)
c.99482A>T (p.Lys33161Ile)
n.446+8574T>A
n.220-3522T>A
c.103502A>T (p.Lys34501Ile)
c.77396A>T (p.Lys25799Ile)
c.77255A>T (p.Lys25752Ile)
c.103298A>T (p.Lys34433Ile)
c.98696A>T (p.Lys32899Ile)
c.98693A>T (p.Lys32898Ile)
c.95735A>T (p.Lys31912Ile)
c.77351A>T (p.Lys25784Ile)
c.98846A>T (p.Lys32949Ile)
c.98843A>T (p.Lys32948Ile)
c.98276A>T (p.Lys32759Ile)
c.95618A>T (p.Lys31873Ile)
c.95537A>T (p.Lys31846Ile)
c.77300A>T (p.Lys25767Ile)
c.67154A>T (p.Lys22385Ile)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178532210T>CCA349411802TTN,TTN-AS1c.96701A>G (p.Lys32234Arg)
c.77786A>G (p.Lys25929Arg)
c.77585A>G (p.Lys25862Arg)
c.77210A>G (p.Lys25737Arg)
c.104405A>G (p.Lys34802Arg)
c.99482A>G (p.Lys33161Arg)
n.446+8574T>C
n.220-3522T>C
c.103502A>G (p.Lys34501Arg)
c.77396A>G (p.Lys25799Arg)
c.77255A>G (p.Lys25752Arg)
c.103298A>G (p.Lys34433Arg)
c.98696A>G (p.Lys32899Arg)
c.98693A>G (p.Lys32898Arg)
c.95735A>G (p.Lys31912Arg)
c.77351A>G (p.Lys25784Arg)
c.98846A>G (p.Lys32949Arg)
c.98843A>G (p.Lys32948Arg)
c.98276A>G (p.Lys32759Arg)
c.95618A>G (p.Lys31873Arg)
c.95537A>G (p.Lys31846Arg)
c.77300A>G (p.Lys25767Arg)
c.67154A>G (p.Lys22385Arg)
2g.178532210T>GCA349411803TTN,TTN-AS1c.96701A>C (p.Lys32234Thr)
c.77786A>C (p.Lys25929Thr)
c.77585A>C (p.Lys25862Thr)
c.77210A>C (p.Lys25737Thr)
c.104405A>C (p.Lys34802Thr)
c.99482A>C (p.Lys33161Thr)
n.446+8574T>G
n.220-3522T>G
c.103502A>C (p.Lys34501Thr)
c.77396A>C (p.Lys25799Thr)
c.77255A>C (p.Lys25752Thr)
c.103298A>C (p.Lys34433Thr)
c.98696A>C (p.Lys32899Thr)
c.98693A>C (p.Lys32898Thr)
c.95735A>C (p.Lys31912Thr)
c.77351A>C (p.Lys25784Thr)
c.98846A>C (p.Lys32949Thr)
c.98843A>C (p.Lys32948Thr)
c.98276A>C (p.Lys32759Thr)
c.95618A>C (p.Lys31873Thr)
c.95537A>C (p.Lys31846Thr)
c.77300A>C (p.Lys25767Thr)
c.67154A>C (p.Lys22385Thr)
2g.178532210T=CA1310518127TTN,TTN-AS1c.96701A= (p.Lys32234=)
c.77786A= (p.Lys25929=)
c.77585A= (p.Lys25862=)
c.77210A= (p.Lys25737=)
c.104405A= (p.Lys34802=)
c.99482A= (p.Lys33161=)
n.446+8574T=
n.220-3522T=
c.103502A= (p.Lys34501=)
c.77396A= (p.Lys25799=)
c.77255A= (p.Lys25752=)
c.103298A= (p.Lys34433=)
c.98696A= (p.Lys32899=)
c.98693A= (p.Lys32898=)
c.95735A= (p.Lys31912=)
c.77351A= (p.Lys25784=)
c.98846A= (p.Lys32949=)
c.98843A= (p.Lys32948=)
c.98276A= (p.Lys32759=)
c.95618A= (p.Lys31873=)
c.95537A= (p.Lys31846=)
c.77300A= (p.Lys25767=)
c.67154A= (p.Lys22385=)
2g.178532211T>ACA349411804TTN,TTN-AS1c.96700A>T (p.Lys32234Ter)
c.77785A>T (p.Lys25929Ter)
c.77584A>T (p.Lys25862Ter)
c.77209A>T (p.Lys25737Ter)
c.104404A>T (p.Lys34802Ter)
c.99481A>T (p.Lys33161Ter)
n.446+8575T>A
n.220-3521T>A
c.103501A>T (p.Lys34501Ter)
c.77395A>T (p.Lys25799Ter)
c.77254A>T (p.Lys25752Ter)
c.103297A>T (p.Lys34433Ter)
c.98695A>T (p.Lys32899Ter)
c.98692A>T (p.Lys32898Ter)
c.95734A>T (p.Lys31912Ter)
c.77350A>T (p.Lys25784Ter)
c.98845A>T (p.Lys32949Ter)
c.98842A>T (p.Lys32948Ter)
c.98275A>T (p.Lys32759Ter)
c.95617A>T (p.Lys31873Ter)
c.95536A>T (p.Lys31846Ter)
c.77299A>T (p.Lys25767Ter)
c.67153A>T (p.Lys22385Ter)
2g.178532211T>CCA349411805TTN,TTN-AS1c.96700A>G (p.Lys32234Glu)
c.77785A>G (p.Lys25929Glu)
c.77584A>G (p.Lys25862Glu)
c.77209A>G (p.Lys25737Glu)
c.104404A>G (p.Lys34802Glu)
c.99481A>G (p.Lys33161Glu)
n.446+8575T>C
n.220-3521T>C
c.103501A>G (p.Lys34501Glu)
c.77395A>G (p.Lys25799Glu)
c.77254A>G (p.Lys25752Glu)
c.103297A>G (p.Lys34433Glu)
c.98695A>G (p.Lys32899Glu)
c.98692A>G (p.Lys32898Glu)
c.95734A>G (p.Lys31912Glu)
c.77350A>G (p.Lys25784Glu)
c.98845A>G (p.Lys32949Glu)
c.98842A>G (p.Lys32948Glu)
c.98275A>G (p.Lys32759Glu)
c.95617A>G (p.Lys31873Glu)
c.95536A>G (p.Lys31846Glu)
c.77299A>G (p.Lys25767Glu)
c.67153A>G (p.Lys22385Glu)
2g.178532211T>GCA349411806TTN,TTN-AS1c.96700A>C (p.Lys32234Gln)
c.77785A>C (p.Lys25929Gln)
c.77584A>C (p.Lys25862Gln)
c.77209A>C (p.Lys25737Gln)
c.104404A>C (p.Lys34802Gln)
c.99481A>C (p.Lys33161Gln)
n.446+8575T>G
n.220-3521T>G
c.103501A>C (p.Lys34501Gln)
c.77395A>C (p.Lys25799Gln)
c.77254A>C (p.Lys25752Gln)
c.103297A>C (p.Lys34433Gln)
c.98695A>C (p.Lys32899Gln)
c.98692A>C (p.Lys32898Gln)
c.95734A>C (p.Lys31912Gln)
c.77350A>C (p.Lys25784Gln)
c.98845A>C (p.Lys32949Gln)
c.98842A>C (p.Lys32948Gln)
c.98275A>C (p.Lys32759Gln)
c.95617A>C (p.Lys31873Gln)
c.95536A>C (p.Lys31846Gln)
c.77299A>C (p.Lys25767Gln)
c.67153A>C (p.Lys22385Gln)
2g.178532212C>ACA349411807TTN,TTN-AS1c.96699G>T (p.Lys32233Asn)
c.77784G>T (p.Lys25928Asn)
c.77583G>T (p.Lys25861Asn)
c.77208G>T (p.Lys25736Asn)
c.104403G>T (p.Lys34801Asn)
c.99480G>T (p.Lys33160Asn)
n.446+8576C>A
n.220-3520C>A
c.103500G>T (p.Lys34500Asn)
c.77394G>T (p.Lys25798Asn)
c.77253G>T (p.Lys25751Asn)
c.103296G>T (p.Lys34432Asn)
c.98694G>T (p.Lys32898Asn)
c.98691G>T (p.Lys32897Asn)
c.95733G>T (p.Lys31911Asn)
c.77349G>T (p.Lys25783Asn)
c.98844G>T (p.Lys32948Asn)
c.98841G>T (p.Lys32947Asn)
c.98274G>T (p.Lys32758Asn)
c.95616G>T (p.Lys31872Asn)
c.95535G>T (p.Lys31845Asn)
c.77298G>T (p.Lys25766Asn)
c.67152G>T (p.Lys22384Asn)
2g.178532212C>GCA349411808TTN,TTN-AS1c.96699G>C (p.Lys32233Asn)
c.77784G>C (p.Lys25928Asn)
c.77583G>C (p.Lys25861Asn)
c.77208G>C (p.Lys25736Asn)
c.104403G>C (p.Lys34801Asn)
c.99480G>C (p.Lys33160Asn)
n.446+8576C>G
n.220-3520C>G
c.103500G>C (p.Lys34500Asn)
c.77394G>C (p.Lys25798Asn)
c.77253G>C (p.Lys25751Asn)
c.103296G>C (p.Lys34432Asn)
c.98694G>C (p.Lys32898Asn)
c.98691G>C (p.Lys32897Asn)
c.95733G>C (p.Lys31911Asn)
c.77349G>C (p.Lys25783Asn)
c.98844G>C (p.Lys32948Asn)
c.98841G>C (p.Lys32947Asn)
c.98274G>C (p.Lys32758Asn)
c.95616G>C (p.Lys31872Asn)
c.95535G>C (p.Lys31845Asn)
c.77298G>C (p.Lys25766Asn)
c.67152G>C (p.Lys22384Asn)
2g.178532212C>TCA430235934TTN,TTN-AS1c.96699G>A (p.Lys32233=)
c.77784G>A (p.Lys25928=)
c.77583G>A (p.Lys25861=)
c.77208G>A (p.Lys25736=)
c.104403G>A (p.Lys34801=)
c.99480G>A (p.Lys33160=)
n.446+8576C>T
n.220-3520C>T
c.103500G>A (p.Lys34500=)
c.77394G>A (p.Lys25798=)
c.77253G>A (p.Lys25751=)
c.103296G>A (p.Lys34432=)
c.98694G>A (p.Lys32898=)
c.98691G>A (p.Lys32897=)
c.95733G>A (p.Lys31911=)
c.77349G>A (p.Lys25783=)
c.98844G>A (p.Lys32948=)
c.98841G>A (p.Lys32947=)
c.98274G>A (p.Lys32758=)
c.95616G>A (p.Lys31872=)
c.95535G>A (p.Lys31845=)
c.77298G>A (p.Lys25766=)
c.67152G>A (p.Lys22384=)
 ClinVar
2g.178532213T>ACA349411809TTN,TTN-AS1c.96698A>T (p.Lys32233Met)
c.77783A>T (p.Lys25928Met)
c.77582A>T (p.Lys25861Met)
c.77207A>T (p.Lys25736Met)
c.104402A>T (p.Lys34801Met)
c.99479A>T (p.Lys33160Met)
n.446+8577T>A
n.220-3519T>A
c.103499A>T (p.Lys34500Met)
c.77393A>T (p.Lys25798Met)
c.77252A>T (p.Lys25751Met)
c.103295A>T (p.Lys34432Met)
c.98693A>T (p.Lys32898Met)
c.98690A>T (p.Lys32897Met)
c.95732A>T (p.Lys31911Met)
c.77348A>T (p.Lys25783Met)
c.98843A>T (p.Lys32948Met)
c.98840A>T (p.Lys32947Met)
c.98273A>T (p.Lys32758Met)
c.95615A>T (p.Lys31872Met)
c.95534A>T (p.Lys31845Met)
c.77297A>T (p.Lys25766Met)
c.67151A>T (p.Lys22384Met)
2g.178532213T>CCA349411811TTN,TTN-AS1c.96698A>G (p.Lys32233Arg)
c.77783A>G (p.Lys25928Arg)
c.77582A>G (p.Lys25861Arg)
c.77207A>G (p.Lys25736Arg)
c.104402A>G (p.Lys34801Arg)
c.99479A>G (p.Lys33160Arg)
n.446+8577T>C
n.220-3519T>C
c.103499A>G (p.Lys34500Arg)
c.77393A>G (p.Lys25798Arg)
c.77252A>G (p.Lys25751Arg)
c.103295A>G (p.Lys34432Arg)
c.98693A>G (p.Lys32898Arg)
c.98690A>G (p.Lys32897Arg)
c.95732A>G (p.Lys31911Arg)
c.77348A>G (p.Lys25783Arg)
c.98843A>G (p.Lys32948Arg)
c.98840A>G (p.Lys32947Arg)
c.98273A>G (p.Lys32758Arg)
c.95615A>G (p.Lys31872Arg)
c.95534A>G (p.Lys31845Arg)
c.77297A>G (p.Lys25766Arg)
c.67151A>G (p.Lys22384Arg)
2g.178532213T>GCA349411810TTN,TTN-AS1c.96698A>C (p.Lys32233Thr)
c.77783A>C (p.Lys25928Thr)
c.77582A>C (p.Lys25861Thr)
c.77207A>C (p.Lys25736Thr)
c.104402A>C (p.Lys34801Thr)
c.99479A>C (p.Lys33160Thr)
n.446+8577T>G
n.220-3519T>G
c.103499A>C (p.Lys34500Thr)
c.77393A>C (p.Lys25798Thr)
c.77252A>C (p.Lys25751Thr)
c.103295A>C (p.Lys34432Thr)
c.98693A>C (p.Lys32898Thr)
c.98690A>C (p.Lys32897Thr)
c.95732A>C (p.Lys31911Thr)
c.77348A>C (p.Lys25783Thr)
c.98843A>C (p.Lys32948Thr)
c.98840A>C (p.Lys32947Thr)
c.98273A>C (p.Lys32758Thr)
c.95615A>C (p.Lys31872Thr)
c.95534A>C (p.Lys31845Thr)
c.77297A>C (p.Lys25766Thr)
c.67151A>C (p.Lys22384Thr)
2g.178532214T>ACA349411812TTN,TTN-AS1c.96697A>T (p.Lys32233Ter)
c.77782A>T (p.Lys25928Ter)
c.77581A>T (p.Lys25861Ter)
c.77206A>T (p.Lys25736Ter)
c.104401A>T (p.Lys34801Ter)
c.99478A>T (p.Lys33160Ter)
n.446+8578T>A
n.220-3518T>A
c.103498A>T (p.Lys34500Ter)
c.77392A>T (p.Lys25798Ter)
c.77251A>T (p.Lys25751Ter)
c.103294A>T (p.Lys34432Ter)
c.98692A>T (p.Lys32898Ter)
c.98689A>T (p.Lys32897Ter)
c.95731A>T (p.Lys31911Ter)
c.77347A>T (p.Lys25783Ter)
c.98842A>T (p.Lys32948Ter)
c.98839A>T (p.Lys32947Ter)
c.98272A>T (p.Lys32758Ter)
c.95614A>T (p.Lys31872Ter)
c.95533A>T (p.Lys31845Ter)
c.77296A>T (p.Lys25766Ter)
c.67150A>T (p.Lys22384Ter)
2g.178532214T>CCA349411813TTN,TTN-AS1c.96697A>G (p.Lys32233Glu)
c.77782A>G (p.Lys25928Glu)
c.77581A>G (p.Lys25861Glu)
c.77206A>G (p.Lys25736Glu)
c.104401A>G (p.Lys34801Glu)
c.99478A>G (p.Lys33160Glu)
n.446+8578T>C
n.220-3518T>C
c.103498A>G (p.Lys34500Glu)
c.77392A>G (p.Lys25798Glu)
c.77251A>G (p.Lys25751Glu)
c.103294A>G (p.Lys34432Glu)
c.98692A>G (p.Lys32898Glu)
c.98689A>G (p.Lys32897Glu)
c.95731A>G (p.Lys31911Glu)
c.77347A>G (p.Lys25783Glu)
c.98842A>G (p.Lys32948Glu)
c.98839A>G (p.Lys32947Glu)
c.98272A>G (p.Lys32758Glu)
c.95614A>G (p.Lys31872Glu)
c.95533A>G (p.Lys31845Glu)
c.77296A>G (p.Lys25766Glu)
c.67150A>G (p.Lys22384Glu)
 gnomAD v4
2g.178532214T>GCA349411814TTN,TTN-AS1c.96697A>C (p.Lys32233Gln)
c.77782A>C (p.Lys25928Gln)
c.77581A>C (p.Lys25861Gln)
c.77206A>C (p.Lys25736Gln)
c.104401A>C (p.Lys34801Gln)
c.99478A>C (p.Lys33160Gln)
n.446+8578T>G
n.220-3518T>G
c.103498A>C (p.Lys34500Gln)
c.77392A>C (p.Lys25798Gln)
c.77251A>C (p.Lys25751Gln)
c.103294A>C (p.Lys34432Gln)
c.98692A>C (p.Lys32898Gln)
c.98689A>C (p.Lys32897Gln)
c.95731A>C (p.Lys31911Gln)
c.77347A>C (p.Lys25783Gln)
c.98842A>C (p.Lys32948Gln)
c.98839A>C (p.Lys32947Gln)
c.98272A>C (p.Lys32758Gln)
c.95614A>C (p.Lys31872Gln)
c.95533A>C (p.Lys31845Gln)
c.77296A>C (p.Lys25766Gln)
c.67150A>C (p.Lys22384Gln)
2g.178532215T>ACA349411815TTN,TTN-AS1c.96696A>T (p.Arg32232Ser)
c.77781A>T (p.Arg25927Ser)
c.77580A>T (p.Arg25860Ser)
c.77205A>T (p.Arg25735Ser)
c.104400A>T (p.Arg34800Ser)
c.99477A>T (p.Arg33159Ser)
n.446+8579T>A
n.220-3517T>A
c.103497A>T (p.Arg34499Ser)
c.77391A>T (p.Arg25797Ser)
c.77250A>T (p.Arg25750Ser)
c.103293A>T (p.Arg34431Ser)
c.98691A>T (p.Arg32897Ser)
c.98688A>T (p.Arg32896Ser)
c.95730A>T (p.Arg31910Ser)
c.77346A>T (p.Arg25782Ser)
c.98841A>T (p.Arg32947Ser)
c.98838A>T (p.Arg32946Ser)
c.98271A>T (p.Arg32757Ser)
c.95613A>T (p.Arg31871Ser)
c.95532A>T (p.Arg31844Ser)
c.77295A>T (p.Arg25765Ser)
c.67149A>T (p.Arg22383Ser)
2g.178532215T>CCA430235935TTN,TTN-AS1c.96696A>G (p.Arg32232=)
c.77781A>G (p.Arg25927=)
c.77580A>G (p.Arg25860=)
c.77205A>G (p.Arg25735=)
c.104400A>G (p.Arg34800=)
c.99477A>G (p.Arg33159=)
n.446+8579T>C
n.220-3517T>C
c.103497A>G (p.Arg34499=)
c.77391A>G (p.Arg25797=)
c.77250A>G (p.Arg25750=)
c.103293A>G (p.Arg34431=)
c.98691A>G (p.Arg32897=)
c.98688A>G (p.Arg32896=)
c.95730A>G (p.Arg31910=)
c.77346A>G (p.Arg25782=)
c.98841A>G (p.Arg32947=)
c.98838A>G (p.Arg32946=)
c.98271A>G (p.Arg32757=)
c.95613A>G (p.Arg31871=)
c.95532A>G (p.Arg31844=)
c.77295A>G (p.Arg25765=)
c.67149A>G (p.Arg22383=)
2g.178532215T>GCA349411816TTN,TTN-AS1c.96696A>C (p.Arg32232Ser)
c.77781A>C (p.Arg25927Ser)
c.77580A>C (p.Arg25860Ser)
c.77205A>C (p.Arg25735Ser)
c.104400A>C (p.Arg34800Ser)
c.99477A>C (p.Arg33159Ser)
n.446+8579T>G
n.220-3517T>G
c.103497A>C (p.Arg34499Ser)
c.77391A>C (p.Arg25797Ser)
c.77250A>C (p.Arg25750Ser)
c.103293A>C (p.Arg34431Ser)
c.98691A>C (p.Arg32897Ser)
c.98688A>C (p.Arg32896Ser)
c.95730A>C (p.Arg31910Ser)
c.77346A>C (p.Arg25782Ser)
c.98841A>C (p.Arg32947Ser)
c.98838A>C (p.Arg32946Ser)
c.98271A>C (p.Arg32757Ser)
c.95613A>C (p.Arg31871Ser)
c.95532A>C (p.Arg31844Ser)
c.77295A>C (p.Arg25765Ser)
c.67149A>C (p.Arg22383Ser)
2g.178532215_178532216delinsTCCA1310518128TTN,TTN-AS1c.96695_96696delinsGA (p.Arg32232=)
c.77780_77781delinsGA (p.Arg25927=)
c.77579_77580delinsGA (p.Arg25860=)
c.77204_77205delinsGA (p.Arg25735=)
c.104399_104400delinsGA (p.Arg34800=)
c.99476_99477delinsGA (p.Arg33159=)
n.446+8579_446+8580delinsTC
n.220-3517_220-3516delinsTC
c.103496_103497delinsGA (p.Arg34499=)
c.77390_77391delinsGA (p.Arg25797=)
c.77249_77250delinsGA (p.Arg25750=)
c.103292_103293delinsGA (p.Arg34431=)
c.98690_98691delinsGA (p.Arg32897=)
c.98687_98688delinsGA (p.Arg32896=)
c.95729_95730delinsGA (p.Arg31910=)
c.77345_77346delinsGA (p.Arg25782=)
c.98840_98841delinsGA (p.Arg32947=)
c.98837_98838delinsGA (p.Arg32946=)
c.98270_98271delinsGA (p.Arg32757=)
c.95612_95613delinsGA (p.Arg31871=)
c.95531_95532delinsGA (p.Arg31844=)
c.77294_77295delinsGA (p.Arg25765=)
c.67148_67149delinsGA (p.Arg22383=)
2g.178532216delCA1985431TTN,TTN-AS1c.96695del (p.Arg32232LysfsTer10)
c.77780del (p.Arg25927LysfsTer10)
c.77579del (p.Arg25860LysfsTer10)
c.77204del (p.Arg25735LysfsTer10)
c.104399del (p.Arg34800LysfsTer10)
c.99476del (p.Arg33159LysfsTer10)
n.446+8580del
n.220-3516del
c.103496del (p.Arg34499LysfsTer10)
c.77390del (p.Arg25797LysfsTer10)
c.77249del (p.Arg25750LysfsTer10)
c.103292del (p.Arg34431LysfsTer10)
c.98690del (p.Arg32897LysfsTer10)
c.98687del (p.Arg32896LysfsTer10)
c.95729del (p.Arg31910LysfsTer10)
c.77345del (p.Arg25782LysfsTer10)
c.98840del (p.Arg32947LysfsTer10)
c.98837del (p.Arg32946LysfsTer10)
c.98270del (p.Arg32757LysfsTer10)
c.95612del (p.Arg31871LysfsTer10)
c.95531del (p.Arg31844LysfsTer10)
c.77294del (p.Arg25765LysfsTer10)
c.67148del (p.Arg22383LysfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532216C>ACA349411817TTN,TTN-AS1c.96695G>T (p.Arg32232Ile)
c.77780G>T (p.Arg25927Ile)
c.77579G>T (p.Arg25860Ile)
c.77204G>T (p.Arg25735Ile)
c.104399G>T (p.Arg34800Ile)
c.99476G>T (p.Arg33159Ile)
n.446+8580C>A
n.220-3516C>A
c.103496G>T (p.Arg34499Ile)
c.77390G>T (p.Arg25797Ile)
c.77249G>T (p.Arg25750Ile)
c.103292G>T (p.Arg34431Ile)
c.98690G>T (p.Arg32897Ile)
c.98687G>T (p.Arg32896Ile)
c.95729G>T (p.Arg31910Ile)
c.77345G>T (p.Arg25782Ile)
c.98840G>T (p.Arg32947Ile)
c.98837G>T (p.Arg32946Ile)
c.98270G>T (p.Arg32757Ile)
c.95612G>T (p.Arg31871Ile)
c.95531G>T (p.Arg31844Ile)
c.77294G>T (p.Arg25765Ile)
c.67148G>T (p.Arg22383Ile)
2g.178532216C>GCA349411818TTN,TTN-AS1c.96695G>C (p.Arg32232Thr)
c.77780G>C (p.Arg25927Thr)
c.77579G>C (p.Arg25860Thr)
c.77204G>C (p.Arg25735Thr)
c.104399G>C (p.Arg34800Thr)
c.99476G>C (p.Arg33159Thr)
n.446+8580C>G
n.220-3516C>G
c.103496G>C (p.Arg34499Thr)
c.77390G>C (p.Arg25797Thr)
c.77249G>C (p.Arg25750Thr)
c.103292G>C (p.Arg34431Thr)
c.98690G>C (p.Arg32897Thr)
c.98687G>C (p.Arg32896Thr)
c.95729G>C (p.Arg31910Thr)
c.77345G>C (p.Arg25782Thr)
c.98840G>C (p.Arg32947Thr)
c.98837G>C (p.Arg32946Thr)
c.98270G>C (p.Arg32757Thr)
c.95612G>C (p.Arg31871Thr)
c.95531G>C (p.Arg31844Thr)
c.77294G>C (p.Arg25765Thr)
c.67148G>C (p.Arg22383Thr)
2g.178532216C>TCA349411819TTN,TTN-AS1c.96695G>A (p.Arg32232Lys)
c.77780G>A (p.Arg25927Lys)
c.77579G>A (p.Arg25860Lys)
c.77204G>A (p.Arg25735Lys)
c.104399G>A (p.Arg34800Lys)
c.99476G>A (p.Arg33159Lys)
n.446+8580C>T
n.220-3516C>T
c.103496G>A (p.Arg34499Lys)
c.77390G>A (p.Arg25797Lys)
c.77249G>A (p.Arg25750Lys)
c.103292G>A (p.Arg34431Lys)
c.98690G>A (p.Arg32897Lys)
c.98687G>A (p.Arg32896Lys)
c.95729G>A (p.Arg31910Lys)
c.77345G>A (p.Arg25782Lys)
c.98840G>A (p.Arg32947Lys)
c.98837G>A (p.Arg32946Lys)
c.98270G>A (p.Arg32757Lys)
c.95612G>A (p.Arg31871Lys)
c.95531G>A (p.Arg31844Lys)
c.77294G>A (p.Arg25765Lys)
c.67148G>A (p.Arg22383Lys)
2g.178532217T>ACA349411820TTN,TTN-AS1c.96694A>T (p.Arg32232Ter)
c.77779A>T (p.Arg25927Ter)
c.77578A>T (p.Arg25860Ter)
c.77203A>T (p.Arg25735Ter)
c.104398A>T (p.Arg34800Ter)
c.99475A>T (p.Arg33159Ter)
n.446+8581T>A
n.220-3515T>A
c.103495A>T (p.Arg34499Ter)
c.77389A>T (p.Arg25797Ter)
c.77248A>T (p.Arg25750Ter)
c.103291A>T (p.Arg34431Ter)
c.98689A>T (p.Arg32897Ter)
c.98686A>T (p.Arg32896Ter)
c.95728A>T (p.Arg31910Ter)
c.77344A>T (p.Arg25782Ter)
c.98839A>T (p.Arg32947Ter)
c.98836A>T (p.Arg32946Ter)
c.98269A>T (p.Arg32757Ter)
c.95611A>T (p.Arg31871Ter)
c.95530A>T (p.Arg31844Ter)
c.77293A>T (p.Arg25765Ter)
c.67147A>T (p.Arg22383Ter)
2g.178532217T>CCA349411821TTN,TTN-AS1c.96694A>G (p.Arg32232Gly)
c.77779A>G (p.Arg25927Gly)
c.77578A>G (p.Arg25860Gly)
c.77203A>G (p.Arg25735Gly)
c.104398A>G (p.Arg34800Gly)
c.99475A>G (p.Arg33159Gly)
n.446+8581T>C
n.220-3515T>C
c.103495A>G (p.Arg34499Gly)
c.77389A>G (p.Arg25797Gly)
c.77248A>G (p.Arg25750Gly)
c.103291A>G (p.Arg34431Gly)
c.98689A>G (p.Arg32897Gly)
c.98686A>G (p.Arg32896Gly)
c.95728A>G (p.Arg31910Gly)
c.77344A>G (p.Arg25782Gly)
c.98839A>G (p.Arg32947Gly)
c.98836A>G (p.Arg32946Gly)
c.98269A>G (p.Arg32757Gly)
c.95611A>G (p.Arg31871Gly)
c.95530A>G (p.Arg31844Gly)
c.77293A>G (p.Arg25765Gly)
c.67147A>G (p.Arg22383Gly)
2g.178532217T>GCA430235936TTN,TTN-AS1c.96694A>C (p.Arg32232=)
c.77779A>C (p.Arg25927=)
c.77578A>C (p.Arg25860=)
c.77203A>C (p.Arg25735=)
c.104398A>C (p.Arg34800=)
c.99475A>C (p.Arg33159=)
n.446+8581T>G
n.220-3515T>G
c.103495A>C (p.Arg34499=)
c.77389A>C (p.Arg25797=)
c.77248A>C (p.Arg25750=)
c.103291A>C (p.Arg34431=)
c.98689A>C (p.Arg32897=)
c.98686A>C (p.Arg32896=)
c.95728A>C (p.Arg31910=)
c.77344A>C (p.Arg25782=)
c.98839A>C (p.Arg32947=)
c.98836A>C (p.Arg32946=)
c.98269A>C (p.Arg32757=)
c.95611A>C (p.Arg31871=)
c.95530A>C (p.Arg31844=)
c.77293A>C (p.Arg25765=)
c.67147A>C (p.Arg22383=)
2g.178532218A>CCA430235937TTN,TTN-AS1c.96693T>G (p.Ser32231=)
c.77778T>G (p.Ser25926=)
c.77577T>G (p.Ser25859=)
c.77202T>G (p.Ser25734=)
c.104397T>G (p.Ser34799=)
c.99474T>G (p.Ser33158=)
n.446+8582A>C
n.220-3514A>C
c.103494T>G (p.Ser34498=)
c.77388T>G (p.Ser25796=)
c.77247T>G (p.Ser25749=)
c.103290T>G (p.Ser34430=)
c.98688T>G (p.Ser32896=)
c.98685T>G (p.Ser32895=)
c.95727T>G (p.Ser31909=)
c.77343T>G (p.Ser25781=)
c.98838T>G (p.Ser32946=)
c.98835T>G (p.Ser32945=)
c.98268T>G (p.Ser32756=)
c.95610T>G (p.Ser31870=)
c.95529T>G (p.Ser31843=)
c.77292T>G (p.Ser25764=)
c.67146T>G (p.Ser22382=)
2g.178532218A>GCA430235938TTN,TTN-AS1c.96693T>C (p.Ser32231=)
c.77778T>C (p.Ser25926=)
c.77577T>C (p.Ser25859=)
c.77202T>C (p.Ser25734=)
c.104397T>C (p.Ser34799=)
c.99474T>C (p.Ser33158=)
n.446+8582A>G
n.220-3514A>G
c.103494T>C (p.Ser34498=)
c.77388T>C (p.Ser25796=)
c.77247T>C (p.Ser25749=)
c.103290T>C (p.Ser34430=)
c.98688T>C (p.Ser32896=)
c.98685T>C (p.Ser32895=)
c.95727T>C (p.Ser31909=)
c.77343T>C (p.Ser25781=)
c.98838T>C (p.Ser32946=)
c.98835T>C (p.Ser32945=)
c.98268T>C (p.Ser32756=)
c.95610T>C (p.Ser31870=)
c.95529T>C (p.Ser31843=)
c.77292T>C (p.Ser25764=)
c.67146T>C (p.Ser22382=)
2g.178532218A>TCA430235939TTN,TTN-AS1c.96693T>A (p.Ser32231=)
c.77778T>A (p.Ser25926=)
c.77577T>A (p.Ser25859=)
c.77202T>A (p.Ser25734=)
c.104397T>A (p.Ser34799=)
c.99474T>A (p.Ser33158=)
n.446+8582A>T
n.220-3514A>T
c.103494T>A (p.Ser34498=)
c.77388T>A (p.Ser25796=)
c.77247T>A (p.Ser25749=)
c.103290T>A (p.Ser34430=)
c.98688T>A (p.Ser32896=)
c.98685T>A (p.Ser32895=)
c.95727T>A (p.Ser31909=)
c.77343T>A (p.Ser25781=)
c.98838T>A (p.Ser32946=)
c.98835T>A (p.Ser32945=)
c.98268T>A (p.Ser32756=)
c.95610T>A (p.Ser31870=)
c.95529T>A (p.Ser31843=)
c.77292T>A (p.Ser25764=)
c.67146T>A (p.Ser22382=)
2g.178532219G>ACA349411824TTN,TTN-AS1c.96692C>T (p.Ser32231Phe)
c.77777C>T (p.Ser25926Phe)
c.77576C>T (p.Ser25859Phe)
c.77201C>T (p.Ser25734Phe)
c.104396C>T (p.Ser34799Phe)
c.99473C>T (p.Ser33158Phe)
n.446+8583G>A
n.220-3513G>A
c.103493C>T (p.Ser34498Phe)
c.77387C>T (p.Ser25796Phe)
c.77246C>T (p.Ser25749Phe)
c.103289C>T (p.Ser34430Phe)
c.98687C>T (p.Ser32896Phe)
c.98684C>T (p.Ser32895Phe)
c.95726C>T (p.Ser31909Phe)
c.77342C>T (p.Ser25781Phe)
c.98837C>T (p.Ser32946Phe)
c.98834C>T (p.Ser32945Phe)
c.98267C>T (p.Ser32756Phe)
c.95609C>T (p.Ser31870Phe)
c.95528C>T (p.Ser31843Phe)
c.77291C>T (p.Ser25764Phe)
c.67145C>T (p.Ser22382Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532219G>CCA349411823TTN,TTN-AS1c.96692C>G (p.Ser32231Cys)
c.77777C>G (p.Ser25926Cys)
c.77576C>G (p.Ser25859Cys)
c.77201C>G (p.Ser25734Cys)
c.104396C>G (p.Ser34799Cys)
c.99473C>G (p.Ser33158Cys)
n.446+8583G>C
n.220-3513G>C
c.103493C>G (p.Ser34498Cys)
c.77387C>G (p.Ser25796Cys)
c.77246C>G (p.Ser25749Cys)
c.103289C>G (p.Ser34430Cys)
c.98687C>G (p.Ser32896Cys)
c.98684C>G (p.Ser32895Cys)
c.95726C>G (p.Ser31909Cys)
c.77342C>G (p.Ser25781Cys)
c.98837C>G (p.Ser32946Cys)
c.98834C>G (p.Ser32945Cys)
c.98267C>G (p.Ser32756Cys)
c.95609C>G (p.Ser31870Cys)
c.95528C>G (p.Ser31843Cys)
c.77291C>G (p.Ser25764Cys)
c.67145C>G (p.Ser22382Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178532219G=CA1310518129TTN,TTN-AS1c.96692C= (p.Ser32231=)
c.77777C= (p.Ser25926=)
c.77576C= (p.Ser25859=)
c.77201C= (p.Ser25734=)
c.104396C= (p.Ser34799=)
c.99473C= (p.Ser33158=)
n.446+8583G=
n.220-3513G=
c.103493C= (p.Ser34498=)
c.77387C= (p.Ser25796=)
c.77246C= (p.Ser25749=)
c.103289C= (p.Ser34430=)
c.98687C= (p.Ser32896=)
c.98684C= (p.Ser32895=)
c.95726C= (p.Ser31909=)
c.77342C= (p.Ser25781=)
c.98837C= (p.Ser32946=)
c.98834C= (p.Ser32945=)
c.98267C= (p.Ser32756=)
c.95609C= (p.Ser31870=)
c.95528C= (p.Ser31843=)
c.77291C= (p.Ser25764=)
c.67145C= (p.Ser22382=)
2g.178532219G>TCA349411822TTN,TTN-AS1c.96692C>A (p.Ser32231Tyr)
c.77777C>A (p.Ser25926Tyr)
c.77576C>A (p.Ser25859Tyr)
c.77201C>A (p.Ser25734Tyr)
c.104396C>A (p.Ser34799Tyr)
c.99473C>A (p.Ser33158Tyr)
n.446+8583G>T
n.220-3513G>T
c.103493C>A (p.Ser34498Tyr)
c.77387C>A (p.Ser25796Tyr)
c.77246C>A (p.Ser25749Tyr)
c.103289C>A (p.Ser34430Tyr)
c.98687C>A (p.Ser32896Tyr)
c.98684C>A (p.Ser32895Tyr)
c.95726C>A (p.Ser31909Tyr)
c.77342C>A (p.Ser25781Tyr)
c.98837C>A (p.Ser32946Tyr)
c.98834C>A (p.Ser32945Tyr)
c.98267C>A (p.Ser32756Tyr)
c.95609C>A (p.Ser31870Tyr)
c.95528C>A (p.Ser31843Tyr)
c.77291C>A (p.Ser25764Tyr)
c.67145C>A (p.Ser22382Tyr)
2g.178532220A>CCA349411827TTN,TTN-AS1c.96691T>G (p.Ser32231Ala)
c.77776T>G (p.Ser25926Ala)
c.77575T>G (p.Ser25859Ala)
c.77200T>G (p.Ser25734Ala)
c.104395T>G (p.Ser34799Ala)
c.99472T>G (p.Ser33158Ala)
n.446+8584A>C
n.220-3512A>C
c.103492T>G (p.Ser34498Ala)
c.77386T>G (p.Ser25796Ala)
c.77245T>G (p.Ser25749Ala)
c.103288T>G (p.Ser34430Ala)
c.98686T>G (p.Ser32896Ala)
c.98683T>G (p.Ser32895Ala)
c.95725T>G (p.Ser31909Ala)
c.77341T>G (p.Ser25781Ala)
c.98836T>G (p.Ser32946Ala)
c.98833T>G (p.Ser32945Ala)
c.98266T>G (p.Ser32756Ala)
c.95608T>G (p.Ser31870Ala)
c.95527T>G (p.Ser31843Ala)
c.77290T>G (p.Ser25764Ala)
c.67144T>G (p.Ser22382Ala)
2g.178532220A>GCA349411825TTN,TTN-AS1c.96691T>C (p.Ser32231Pro)
c.77776T>C (p.Ser25926Pro)
c.77575T>C (p.Ser25859Pro)
c.77200T>C (p.Ser25734Pro)
c.104395T>C (p.Ser34799Pro)
c.99472T>C (p.Ser33158Pro)
n.446+8584A>G
n.220-3512A>G
c.103492T>C (p.Ser34498Pro)
c.77386T>C (p.Ser25796Pro)
c.77245T>C (p.Ser25749Pro)
c.103288T>C (p.Ser34430Pro)
c.98686T>C (p.Ser32896Pro)
c.98683T>C (p.Ser32895Pro)
c.95725T>C (p.Ser31909Pro)
c.77341T>C (p.Ser25781Pro)
c.98836T>C (p.Ser32946Pro)
c.98833T>C (p.Ser32945Pro)
c.98266T>C (p.Ser32756Pro)
c.95608T>C (p.Ser31870Pro)
c.95527T>C (p.Ser31843Pro)
c.77290T>C (p.Ser25764Pro)
c.67144T>C (p.Ser22382Pro)
2g.178532220A>TCA349411826TTN,TTN-AS1c.96691T>A (p.Ser32231Thr)
c.77776T>A (p.Ser25926Thr)
c.77575T>A (p.Ser25859Thr)
c.77200T>A (p.Ser25734Thr)
c.104395T>A (p.Ser34799Thr)
c.99472T>A (p.Ser33158Thr)
n.446+8584A>T
n.220-3512A>T
c.103492T>A (p.Ser34498Thr)
c.77386T>A (p.Ser25796Thr)
c.77245T>A (p.Ser25749Thr)
c.103288T>A (p.Ser34430Thr)
c.98686T>A (p.Ser32896Thr)
c.98683T>A (p.Ser32895Thr)
c.95725T>A (p.Ser31909Thr)
c.77341T>A (p.Ser25781Thr)
c.98836T>A (p.Ser32946Thr)
c.98833T>A (p.Ser32945Thr)
c.98266T>A (p.Ser32756Thr)
c.95608T>A (p.Ser31870Thr)
c.95527T>A (p.Ser31843Thr)
c.77290T>A (p.Ser25764Thr)
c.67144T>A (p.Ser22382Thr)
2g.178532221C>ACA349411828TTN,TTN-AS1c.96690G>T (p.Lys32230Asn)
c.77775G>T (p.Lys25925Asn)
c.77574G>T (p.Lys25858Asn)
c.77199G>T (p.Lys25733Asn)
c.104394G>T (p.Lys34798Asn)
c.99471G>T (p.Lys33157Asn)
n.446+8585C>A
n.220-3511C>A
c.103491G>T (p.Lys34497Asn)
c.77385G>T (p.Lys25795Asn)
c.77244G>T (p.Lys25748Asn)
c.103287G>T (p.Lys34429Asn)
c.98685G>T (p.Lys32895Asn)
c.98682G>T (p.Lys32894Asn)
c.95724G>T (p.Lys31908Asn)
c.77340G>T (p.Lys25780Asn)
c.98835G>T (p.Lys32945Asn)
c.98832G>T (p.Lys32944Asn)
c.98265G>T (p.Lys32755Asn)
c.95607G>T (p.Lys31869Asn)
c.95526G>T (p.Lys31842Asn)
c.77289G>T (p.Lys25763Asn)
c.67143G>T (p.Lys22381Asn)
2g.178532221C>GCA349411829TTN,TTN-AS1c.96690G>C (p.Lys32230Asn)
c.77775G>C (p.Lys25925Asn)
c.77574G>C (p.Lys25858Asn)
c.77199G>C (p.Lys25733Asn)
c.104394G>C (p.Lys34798Asn)
c.99471G>C (p.Lys33157Asn)
n.446+8585C>G
n.220-3511C>G
c.103491G>C (p.Lys34497Asn)
c.77385G>C (p.Lys25795Asn)
c.77244G>C (p.Lys25748Asn)
c.103287G>C (p.Lys34429Asn)
c.98685G>C (p.Lys32895Asn)
c.98682G>C (p.Lys32894Asn)
c.95724G>C (p.Lys31908Asn)
c.77340G>C (p.Lys25780Asn)
c.98835G>C (p.Lys32945Asn)
c.98832G>C (p.Lys32944Asn)
c.98265G>C (p.Lys32755Asn)
c.95607G>C (p.Lys31869Asn)
c.95526G>C (p.Lys31842Asn)
c.77289G>C (p.Lys25763Asn)
c.67143G>C (p.Lys22381Asn)
2g.178532221C>TCA430235940TTN,TTN-AS1c.96690G>A (p.Lys32230=)
c.77775G>A (p.Lys25925=)
c.77574G>A (p.Lys25858=)
c.77199G>A (p.Lys25733=)
c.104394G>A (p.Lys34798=)
c.99471G>A (p.Lys33157=)
n.446+8585C>T
n.220-3511C>T
c.103491G>A (p.Lys34497=)
c.77385G>A (p.Lys25795=)
c.77244G>A (p.Lys25748=)
c.103287G>A (p.Lys34429=)
c.98685G>A (p.Lys32895=)
c.98682G>A (p.Lys32894=)
c.95724G>A (p.Lys31908=)
c.77340G>A (p.Lys25780=)
c.98835G>A (p.Lys32945=)
c.98832G>A (p.Lys32944=)
c.98265G>A (p.Lys32755=)
c.95607G>A (p.Lys31869=)
c.95526G>A (p.Lys31842=)
c.77289G>A (p.Lys25763=)
c.67143G>A (p.Lys22381=)
2g.178532222T>ACA349411830TTN,TTN-AS1c.96689A>T (p.Lys32230Met)
c.77774A>T (p.Lys25925Met)
c.77573A>T (p.Lys25858Met)
c.77198A>T (p.Lys25733Met)
c.104393A>T (p.Lys34798Met)
c.99470A>T (p.Lys33157Met)
n.446+8586T>A
n.220-3510T>A
c.103490A>T (p.Lys34497Met)
c.77384A>T (p.Lys25795Met)
c.77243A>T (p.Lys25748Met)
c.103286A>T (p.Lys34429Met)
c.98684A>T (p.Lys32895Met)
c.98681A>T (p.Lys32894Met)
c.95723A>T (p.Lys31908Met)
c.77339A>T (p.Lys25780Met)
c.98834A>T (p.Lys32945Met)
c.98831A>T (p.Lys32944Met)
c.98264A>T (p.Lys32755Met)
c.95606A>T (p.Lys31869Met)
c.95525A>T (p.Lys31842Met)
c.77288A>T (p.Lys25763Met)
c.67142A>T (p.Lys22381Met)
 dbSNP
2g.178532222T>CCA349411831TTN,TTN-AS1c.96689A>G (p.Lys32230Arg)
c.77774A>G (p.Lys25925Arg)
c.77573A>G (p.Lys25858Arg)
c.77198A>G (p.Lys25733Arg)
c.104393A>G (p.Lys34798Arg)
c.99470A>G (p.Lys33157Arg)
n.446+8586T>C
n.220-3510T>C
c.103490A>G (p.Lys34497Arg)
c.77384A>G (p.Lys25795Arg)
c.77243A>G (p.Lys25748Arg)
c.103286A>G (p.Lys34429Arg)
c.98684A>G (p.Lys32895Arg)
c.98681A>G (p.Lys32894Arg)
c.95723A>G (p.Lys31908Arg)
c.77339A>G (p.Lys25780Arg)
c.98834A>G (p.Lys32945Arg)
c.98831A>G (p.Lys32944Arg)
c.98264A>G (p.Lys32755Arg)
c.95606A>G (p.Lys31869Arg)
c.95525A>G (p.Lys31842Arg)
c.77288A>G (p.Lys25763Arg)
c.67142A>G (p.Lys22381Arg)
2g.178532222T>GCA349411832TTN,TTN-AS1c.96689A>C (p.Lys32230Thr)
c.77774A>C (p.Lys25925Thr)
c.77573A>C (p.Lys25858Thr)
c.77198A>C (p.Lys25733Thr)
c.104393A>C (p.Lys34798Thr)
c.99470A>C (p.Lys33157Thr)
n.446+8586T>G
n.220-3510T>G
c.103490A>C (p.Lys34497Thr)
c.77384A>C (p.Lys25795Thr)
c.77243A>C (p.Lys25748Thr)
c.103286A>C (p.Lys34429Thr)
c.98684A>C (p.Lys32895Thr)
c.98681A>C (p.Lys32894Thr)
c.95723A>C (p.Lys31908Thr)
c.77339A>C (p.Lys25780Thr)
c.98834A>C (p.Lys32945Thr)
c.98831A>C (p.Lys32944Thr)
c.98264A>C (p.Lys32755Thr)
c.95606A>C (p.Lys31869Thr)
c.95525A>C (p.Lys31842Thr)
c.77288A>C (p.Lys25763Thr)
c.67142A>C (p.Lys22381Thr)
 ClinVar
2g.178532222T=CA1310518130TTN,TTN-AS1c.96689A= (p.Lys32230=)
c.77774A= (p.Lys25925=)
c.77573A= (p.Lys25858=)
c.77198A= (p.Lys25733=)
c.104393A= (p.Lys34798=)
c.99470A= (p.Lys33157=)
n.446+8586T=
n.220-3510T=
c.103490A= (p.Lys34497=)
c.77384A= (p.Lys25795=)
c.77243A= (p.Lys25748=)
c.103286A= (p.Lys34429=)
c.98684A= (p.Lys32895=)
c.98681A= (p.Lys32894=)
c.95723A= (p.Lys31908=)
c.77339A= (p.Lys25780=)
c.98834A= (p.Lys32945=)
c.98831A= (p.Lys32944=)
c.98264A= (p.Lys32755=)
c.95606A= (p.Lys31869=)
c.95525A= (p.Lys31842=)
c.77288A= (p.Lys25763=)
c.67142A= (p.Lys22381=)
2g.178532225delCA2580064616TTN,TTN-AS1c.96689del (p.Lys32230SerfsTer12)
c.77774del (p.Lys25925SerfsTer12)
c.77573del (p.Lys25858SerfsTer12)
c.77198del (p.Lys25733SerfsTer12)
c.104393del (p.Lys34798SerfsTer12)
c.99470del (p.Lys33157SerfsTer12)
n.446+8589del
n.220-3507del
c.103490del (p.Lys34497SerfsTer12)
c.77384del (p.Lys25795SerfsTer12)
c.77243del (p.Lys25748SerfsTer12)
c.103286del (p.Lys34429SerfsTer12)
c.98684del (p.Lys32895SerfsTer12)
c.98681del (p.Lys32894SerfsTer12)
c.95723del (p.Lys31908SerfsTer12)
c.77339del (p.Lys25780SerfsTer12)
c.98834del (p.Lys32945SerfsTer12)
c.98831del (p.Lys32944SerfsTer12)
c.98264del (p.Lys32755SerfsTer12)
c.95606del (p.Lys31869SerfsTer12)
c.95525del (p.Lys31842SerfsTer12)
c.77288del (p.Lys25763SerfsTer12)
c.67142del (p.Lys22381SerfsTer12)
 ClinVar
2g.178532223T>ACA349411835TTN,TTN-AS1c.96688A>T (p.Lys32230Ter)
c.77773A>T (p.Lys25925Ter)
c.77572A>T (p.Lys25858Ter)
c.77197A>T (p.Lys25733Ter)
c.104392A>T (p.Lys34798Ter)
c.99469A>T (p.Lys33157Ter)
n.446+8587T>A
n.220-3509T>A
c.103489A>T (p.Lys34497Ter)
c.77383A>T (p.Lys25795Ter)
c.77242A>T (p.Lys25748Ter)
c.103285A>T (p.Lys34429Ter)
c.98683A>T (p.Lys32895Ter)
c.98680A>T (p.Lys32894Ter)
c.95722A>T (p.Lys31908Ter)
c.77338A>T (p.Lys25780Ter)
c.98833A>T (p.Lys32945Ter)
c.98830A>T (p.Lys32944Ter)
c.98263A>T (p.Lys32755Ter)
c.95605A>T (p.Lys31869Ter)
c.95524A>T (p.Lys31842Ter)
c.77287A>T (p.Lys25763Ter)
c.67141A>T (p.Lys22381Ter)
2g.178532223T>CCA349411833TTN,TTN-AS1c.96688A>G (p.Lys32230Glu)
c.77773A>G (p.Lys25925Glu)
c.77572A>G (p.Lys25858Glu)
c.77197A>G (p.Lys25733Glu)
c.104392A>G (p.Lys34798Glu)
c.99469A>G (p.Lys33157Glu)
n.446+8587T>C
n.220-3509T>C
c.103489A>G (p.Lys34497Glu)
c.77383A>G (p.Lys25795Glu)
c.77242A>G (p.Lys25748Glu)
c.103285A>G (p.Lys34429Glu)
c.98683A>G (p.Lys32895Glu)
c.98680A>G (p.Lys32894Glu)
c.95722A>G (p.Lys31908Glu)
c.77338A>G (p.Lys25780Glu)
c.98833A>G (p.Lys32945Glu)
c.98830A>G (p.Lys32944Glu)
c.98263A>G (p.Lys32755Glu)
c.95605A>G (p.Lys31869Glu)
c.95524A>G (p.Lys31842Glu)
c.77287A>G (p.Lys25763Glu)
c.67141A>G (p.Lys22381Glu)
2g.178532223T>GCA349411834TTN,TTN-AS1c.96688A>C (p.Lys32230Gln)
c.77773A>C (p.Lys25925Gln)
c.77572A>C (p.Lys25858Gln)
c.77197A>C (p.Lys25733Gln)
c.104392A>C (p.Lys34798Gln)
c.99469A>C (p.Lys33157Gln)
n.446+8587T>G
n.220-3509T>G
c.103489A>C (p.Lys34497Gln)
c.77383A>C (p.Lys25795Gln)
c.77242A>C (p.Lys25748Gln)
c.103285A>C (p.Lys34429Gln)
c.98683A>C (p.Lys32895Gln)
c.98680A>C (p.Lys32894Gln)
c.95722A>C (p.Lys31908Gln)
c.77338A>C (p.Lys25780Gln)
c.98833A>C (p.Lys32945Gln)
c.98830A>C (p.Lys32944Gln)
c.98263A>C (p.Lys32755Gln)
c.95605A>C (p.Lys31869Gln)
c.95524A>C (p.Lys31842Gln)
c.77287A>C (p.Lys25763Gln)
c.67141A>C (p.Lys22381Gln)
2g.178532224T>ACA349411836TTN,TTN-AS1c.96687A>T (p.Glu32229Asp)
c.77772A>T (p.Glu25924Asp)
c.77571A>T (p.Glu25857Asp)
c.77196A>T (p.Glu25732Asp)
c.104391A>T (p.Glu34797Asp)
c.99468A>T (p.Glu33156Asp)
n.446+8588T>A
n.220-3508T>A
c.103488A>T (p.Glu34496Asp)
c.77382A>T (p.Glu25794Asp)
c.77241A>T (p.Glu25747Asp)
c.103284A>T (p.Glu34428Asp)
c.98682A>T (p.Glu32894Asp)
c.98679A>T (p.Glu32893Asp)
c.95721A>T (p.Glu31907Asp)
c.77337A>T (p.Glu25779Asp)
c.98832A>T (p.Glu32944Asp)
c.98829A>T (p.Glu32943Asp)
c.98262A>T (p.Glu32754Asp)
c.95604A>T (p.Glu31868Asp)
c.95523A>T (p.Glu31841Asp)
c.77286A>T (p.Glu25762Asp)
c.67140A>T (p.Glu22380Asp)
2g.178532224T>CCA430235941TTN,TTN-AS1c.96687A>G (p.Glu32229=)
c.77772A>G (p.Glu25924=)
c.77571A>G (p.Glu25857=)
c.77196A>G (p.Glu25732=)
c.104391A>G (p.Glu34797=)
c.99468A>G (p.Glu33156=)
n.446+8588T>C
n.220-3508T>C
c.103488A>G (p.Glu34496=)
c.77382A>G (p.Glu25794=)
c.77241A>G (p.Glu25747=)
c.103284A>G (p.Glu34428=)
c.98682A>G (p.Glu32894=)
c.98679A>G (p.Glu32893=)
c.95721A>G (p.Glu31907=)
c.77337A>G (p.Glu25779=)
c.98832A>G (p.Glu32944=)
c.98829A>G (p.Glu32943=)
c.98262A>G (p.Glu32754=)
c.95604A>G (p.Glu31868=)
c.95523A>G (p.Glu31841=)
c.77286A>G (p.Glu25762=)
c.67140A>G (p.Glu22380=)
2g.178532224T>GCA349411837TTN,TTN-AS1c.96687A>C (p.Glu32229Asp)
c.77772A>C (p.Glu25924Asp)
c.77571A>C (p.Glu25857Asp)
c.77196A>C (p.Glu25732Asp)
c.104391A>C (p.Glu34797Asp)
c.99468A>C (p.Glu33156Asp)
n.446+8588T>G
n.220-3508T>G
c.103488A>C (p.Glu34496Asp)
c.77382A>C (p.Glu25794Asp)
c.77241A>C (p.Glu25747Asp)
c.103284A>C (p.Glu34428Asp)
c.98682A>C (p.Glu32894Asp)
c.98679A>C (p.Glu32893Asp)
c.95721A>C (p.Glu31907Asp)
c.77337A>C (p.Glu25779Asp)
c.98832A>C (p.Glu32944Asp)
c.98829A>C (p.Glu32943Asp)
c.98262A>C (p.Glu32754Asp)
c.95604A>C (p.Glu31868Asp)
c.95523A>C (p.Glu31841Asp)
c.77286A>C (p.Glu25762Asp)
c.67140A>C (p.Glu22380Asp)
2g.178532225T>ACA349411838TTN,TTN-AS1c.96686A>T (p.Glu32229Val)
c.77771A>T (p.Glu25924Val)
c.77570A>T (p.Glu25857Val)
c.77195A>T (p.Glu25732Val)
c.104390A>T (p.Glu34797Val)
c.99467A>T (p.Glu33156Val)
n.446+8589T>A
n.220-3507T>A
c.103487A>T (p.Glu34496Val)
c.77381A>T (p.Glu25794Val)
c.77240A>T (p.Glu25747Val)
c.103283A>T (p.Glu34428Val)
c.98681A>T (p.Glu32894Val)
c.98678A>T (p.Glu32893Val)
c.95720A>T (p.Glu31907Val)
c.77336A>T (p.Glu25779Val)
c.98831A>T (p.Glu32944Val)
c.98828A>T (p.Glu32943Val)
c.98261A>T (p.Glu32754Val)
c.95603A>T (p.Glu31868Val)
c.95522A>T (p.Glu31841Val)
c.77285A>T (p.Glu25762Val)
c.67139A>T (p.Glu22380Val)
2g.178532225T>CCA349411839TTN,TTN-AS1c.96686A>G (p.Glu32229Gly)
c.77771A>G (p.Glu25924Gly)
c.77570A>G (p.Glu25857Gly)
c.77195A>G (p.Glu25732Gly)
c.104390A>G (p.Glu34797Gly)
c.99467A>G (p.Glu33156Gly)
n.446+8589T>C
n.220-3507T>C
c.103487A>G (p.Glu34496Gly)
c.77381A>G (p.Glu25794Gly)
c.77240A>G (p.Glu25747Gly)
c.103283A>G (p.Glu34428Gly)
c.98681A>G (p.Glu32894Gly)
c.98678A>G (p.Glu32893Gly)
c.95720A>G (p.Glu31907Gly)
c.77336A>G (p.Glu25779Gly)
c.98831A>G (p.Glu32944Gly)
c.98828A>G (p.Glu32943Gly)
c.98261A>G (p.Glu32754Gly)
c.95603A>G (p.Glu31868Gly)
c.95522A>G (p.Glu31841Gly)
c.77285A>G (p.Glu25762Gly)
c.67139A>G (p.Glu22380Gly)
2g.178532225T>GCA60956253TTN,TTN-AS1c.96686A>C (p.Glu32229Ala)
c.77771A>C (p.Glu25924Ala)
c.77570A>C (p.Glu25857Ala)
c.77195A>C (p.Glu25732Ala)
c.104390A>C (p.Glu34797Ala)
c.99467A>C (p.Glu33156Ala)
n.446+8589T>G
n.220-3507T>G
c.103487A>C (p.Glu34496Ala)
c.77381A>C (p.Glu25794Ala)
c.77240A>C (p.Glu25747Ala)
c.103283A>C (p.Glu34428Ala)
c.98681A>C (p.Glu32894Ala)
c.98678A>C (p.Glu32893Ala)
c.95720A>C (p.Glu31907Ala)
c.77336A>C (p.Glu25779Ala)
c.98831A>C (p.Glu32944Ala)
c.98828A>C (p.Glu32943Ala)
c.98261A>C (p.Glu32754Ala)
c.95603A>C (p.Glu31868Ala)
c.95522A>C (p.Glu31841Ala)
c.77285A>C (p.Glu25762Ala)
c.67139A>C (p.Glu22380Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532225T=CA1310518131TTN,TTN-AS1c.96686A= (p.Glu32229=)
c.77771A= (p.Glu25924=)
c.77570A= (p.Glu25857=)
c.77195A= (p.Glu25732=)
c.104390A= (p.Glu34797=)
c.99467A= (p.Glu33156=)
n.446+8589T=
n.220-3507T=
c.103487A= (p.Glu34496=)
c.77381A= (p.Glu25794=)
c.77240A= (p.Glu25747=)
c.103283A= (p.Glu34428=)
c.98681A= (p.Glu32894=)
c.98678A= (p.Glu32893=)
c.95720A= (p.Glu31907=)
c.77336A= (p.Glu25779=)
c.98831A= (p.Glu32944=)
c.98828A= (p.Glu32943=)
c.98261A= (p.Glu32754=)
c.95603A= (p.Glu31868=)
c.95522A= (p.Glu31841=)
c.77285A= (p.Glu25762=)
c.67139A= (p.Glu22380=)
2g.178532226C>ACA349411842TTN,TTN-AS1c.96685G>T (p.Glu32229Ter)
c.77770G>T (p.Glu25924Ter)
c.77569G>T (p.Glu25857Ter)
c.77194G>T (p.Glu25732Ter)
c.104389G>T (p.Glu34797Ter)
c.99466G>T (p.Glu33156Ter)
n.446+8590C>A
n.220-3506C>A
c.103486G>T (p.Glu34496Ter)
c.77380G>T (p.Glu25794Ter)
c.77239G>T (p.Glu25747Ter)
c.103282G>T (p.Glu34428Ter)
c.98680G>T (p.Glu32894Ter)
c.98677G>T (p.Glu32893Ter)
c.95719G>T (p.Glu31907Ter)
c.77335G>T (p.Glu25779Ter)
c.98830G>T (p.Glu32944Ter)
c.98827G>T (p.Glu32943Ter)
c.98260G>T (p.Glu32754Ter)
c.95602G>T (p.Glu31868Ter)
c.95521G>T (p.Glu31841Ter)
c.77284G>T (p.Glu25762Ter)
c.67138G>T (p.Glu22380Ter)
2g.178532226C=CA1310518132TTN,TTN-AS1c.96685G= (p.Glu32229=)
c.77770G= (p.Glu25924=)
c.77569G= (p.Glu25857=)
c.77194G= (p.Glu25732=)
c.104389G= (p.Glu34797=)
c.99466G= (p.Glu33156=)
n.446+8590C=
n.220-3506C=
c.103486G= (p.Glu34496=)
c.77380G= (p.Glu25794=)
c.77239G= (p.Glu25747=)
c.103282G= (p.Glu34428=)
c.98680G= (p.Glu32894=)
c.98677G= (p.Glu32893=)
c.95719G= (p.Glu31907=)
c.77335G= (p.Glu25779=)
c.98830G= (p.Glu32944=)
c.98827G= (p.Glu32943=)
c.98260G= (p.Glu32754=)
c.95602G= (p.Glu31868=)
c.95521G= (p.Glu31841=)
c.77284G= (p.Glu25762=)
c.67138G= (p.Glu22380=)
2g.178532226C>GCA349411840TTN,TTN-AS1c.96685G>C (p.Glu32229Gln)
c.77770G>C (p.Glu25924Gln)
c.77569G>C (p.Glu25857Gln)
c.77194G>C (p.Glu25732Gln)
c.104389G>C (p.Glu34797Gln)
c.99466G>C (p.Glu33156Gln)
n.446+8590C>G
n.220-3506C>G
c.103486G>C (p.Glu34496Gln)
c.77380G>C (p.Glu25794Gln)
c.77239G>C (p.Glu25747Gln)
c.103282G>C (p.Glu34428Gln)
c.98680G>C (p.Glu32894Gln)
c.98677G>C (p.Glu32893Gln)
c.95719G>C (p.Glu31907Gln)
c.77335G>C (p.Glu25779Gln)
c.98830G>C (p.Glu32944Gln)
c.98827G>C (p.Glu32943Gln)
c.98260G>C (p.Glu32754Gln)
c.95602G>C (p.Glu31868Gln)
c.95521G>C (p.Glu31841Gln)
c.77284G>C (p.Glu25762Gln)
c.67138G>C (p.Glu22380Gln)
 COSMIC COSMIC COSMIC COSMIC
2g.178532226C>TCA349411841TTN,TTN-AS1c.96685G>A (p.Glu32229Lys)
c.77770G>A (p.Glu25924Lys)
c.77569G>A (p.Glu25857Lys)
c.77194G>A (p.Glu25732Lys)
c.104389G>A (p.Glu34797Lys)
c.99466G>A (p.Glu33156Lys)
n.446+8590C>T
n.220-3506C>T
c.103486G>A (p.Glu34496Lys)
c.77380G>A (p.Glu25794Lys)
c.77239G>A (p.Glu25747Lys)
c.103282G>A (p.Glu34428Lys)
c.98680G>A (p.Glu32894Lys)
c.98677G>A (p.Glu32893Lys)
c.95719G>A (p.Glu31907Lys)
c.77335G>A (p.Glu25779Lys)
c.98830G>A (p.Glu32944Lys)
c.98827G>A (p.Glu32943Lys)
c.98260G>A (p.Glu32754Lys)
c.95602G>A (p.Glu31868Lys)
c.95521G>A (p.Glu31841Lys)
c.77284G>A (p.Glu25762Lys)
c.67138G>A (p.Glu22380Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532227C>ACA349411843TTN,TTN-AS1c.96684G>T (p.Glu32228Asp)
c.77769G>T (p.Glu25923Asp)
c.77568G>T (p.Glu25856Asp)
c.77193G>T (p.Glu25731Asp)
c.104388G>T (p.Glu34796Asp)
c.99465G>T (p.Glu33155Asp)
n.446+8591C>A
n.220-3505C>A
c.103485G>T (p.Glu34495Asp)
c.77379G>T (p.Glu25793Asp)
c.77238G>T (p.Glu25746Asp)
c.103281G>T (p.Glu34427Asp)
c.98679G>T (p.Glu32893Asp)
c.98676G>T (p.Glu32892Asp)
c.95718G>T (p.Glu31906Asp)
c.77334G>T (p.Glu25778Asp)
c.98829G>T (p.Glu32943Asp)
c.98826G>T (p.Glu32942Asp)
c.98259G>T (p.Glu32753Asp)
c.95601G>T (p.Glu31867Asp)
c.95520G>T (p.Glu31840Asp)
c.77283G>T (p.Glu25761Asp)
c.67137G>T (p.Glu22379Asp)
2g.178532227C>GCA349411844TTN,TTN-AS1c.96684G>C (p.Glu32228Asp)
c.77769G>C (p.Glu25923Asp)
c.77568G>C (p.Glu25856Asp)
c.77193G>C (p.Glu25731Asp)
c.104388G>C (p.Glu34796Asp)
c.99465G>C (p.Glu33155Asp)
n.446+8591C>G
n.220-3505C>G
c.103485G>C (p.Glu34495Asp)
c.77379G>C (p.Glu25793Asp)
c.77238G>C (p.Glu25746Asp)
c.103281G>C (p.Glu34427Asp)
c.98679G>C (p.Glu32893Asp)
c.98676G>C (p.Glu32892Asp)
c.95718G>C (p.Glu31906Asp)
c.77334G>C (p.Glu25778Asp)
c.98829G>C (p.Glu32943Asp)
c.98826G>C (p.Glu32942Asp)
c.98259G>C (p.Glu32753Asp)
c.95601G>C (p.Glu31867Asp)
c.95520G>C (p.Glu31840Asp)
c.77283G>C (p.Glu25761Asp)
c.67137G>C (p.Glu22379Asp)
 gnomAD v4
2g.178532227C>TCA430235942TTN,TTN-AS1c.96684G>A (p.Glu32228=)
c.77769G>A (p.Glu25923=)
c.77568G>A (p.Glu25856=)
c.77193G>A (p.Glu25731=)
c.104388G>A (p.Glu34796=)
c.99465G>A (p.Glu33155=)
n.446+8591C>T
n.220-3505C>T
c.103485G>A (p.Glu34495=)
c.77379G>A (p.Glu25793=)
c.77238G>A (p.Glu25746=)
c.103281G>A (p.Glu34427=)
c.98679G>A (p.Glu32893=)
c.98676G>A (p.Glu32892=)
c.95718G>A (p.Glu31906=)
c.77334G>A (p.Glu25778=)
c.98829G>A (p.Glu32943=)
c.98826G>A (p.Glu32942=)
c.98259G>A (p.Glu32753=)
c.95601G>A (p.Glu31867=)
c.95520G>A (p.Glu31840=)
c.77283G>A (p.Glu25761=)
c.67137G>A (p.Glu22379=)
2g.178532228T>ACA349411845TTN,TTN-AS1c.96683A>T (p.Glu32228Val)
c.77768A>T (p.Glu25923Val)
c.77567A>T (p.Glu25856Val)
c.77192A>T (p.Glu25731Val)
c.104387A>T (p.Glu34796Val)
c.99464A>T (p.Glu33155Val)
n.446+8592T>A
n.220-3504T>A
c.103484A>T (p.Glu34495Val)
c.77378A>T (p.Glu25793Val)
c.77237A>T (p.Glu25746Val)
c.103280A>T (p.Glu34427Val)
c.98678A>T (p.Glu32893Val)
c.98675A>T (p.Glu32892Val)
c.95717A>T (p.Glu31906Val)
c.77333A>T (p.Glu25778Val)
c.98828A>T (p.Glu32943Val)
c.98825A>T (p.Glu32942Val)
c.98258A>T (p.Glu32753Val)
c.95600A>T (p.Glu31867Val)
c.95519A>T (p.Glu31840Val)
c.77282A>T (p.Glu25761Val)
c.67136A>T (p.Glu22379Val)
2g.178532228T>CCA349411846TTN,TTN-AS1c.96683A>G (p.Glu32228Gly)
c.77768A>G (p.Glu25923Gly)
c.77567A>G (p.Glu25856Gly)
c.77192A>G (p.Glu25731Gly)
c.104387A>G (p.Glu34796Gly)
c.99464A>G (p.Glu33155Gly)
n.446+8592T>C
n.220-3504T>C
c.103484A>G (p.Glu34495Gly)
c.77378A>G (p.Glu25793Gly)
c.77237A>G (p.Glu25746Gly)
c.103280A>G (p.Glu34427Gly)
c.98678A>G (p.Glu32893Gly)
c.98675A>G (p.Glu32892Gly)
c.95717A>G (p.Glu31906Gly)
c.77333A>G (p.Glu25778Gly)
c.98828A>G (p.Glu32943Gly)
c.98825A>G (p.Glu32942Gly)
c.98258A>G (p.Glu32753Gly)
c.95600A>G (p.Glu31867Gly)
c.95519A>G (p.Glu31840Gly)
c.77282A>G (p.Glu25761Gly)
c.67136A>G (p.Glu22379Gly)
2g.178532228T>GCA349411847TTN,TTN-AS1c.96683A>C (p.Glu32228Ala)
c.77768A>C (p.Glu25923Ala)
c.77567A>C (p.Glu25856Ala)
c.77192A>C (p.Glu25731Ala)
c.104387A>C (p.Glu34796Ala)
c.99464A>C (p.Glu33155Ala)
n.446+8592T>G
n.220-3504T>G
c.103484A>C (p.Glu34495Ala)
c.77378A>C (p.Glu25793Ala)
c.77237A>C (p.Glu25746Ala)
c.103280A>C (p.Glu34427Ala)
c.98678A>C (p.Glu32893Ala)
c.98675A>C (p.Glu32892Ala)
c.95717A>C (p.Glu31906Ala)
c.77333A>C (p.Glu25778Ala)
c.98828A>C (p.Glu32943Ala)
c.98825A>C (p.Glu32942Ala)
c.98258A>C (p.Glu32753Ala)
c.95600A>C (p.Glu31867Ala)
c.95519A>C (p.Glu31840Ala)
c.77282A>C (p.Glu25761Ala)
c.67136A>C (p.Glu22379Ala)
2g.178532229C>ACA349411850TTN,TTN-AS1c.96682G>T (p.Glu32228Ter)
c.77767G>T (p.Glu25923Ter)
c.77566G>T (p.Glu25856Ter)
c.77191G>T (p.Glu25731Ter)
c.104386G>T (p.Glu34796Ter)
c.99463G>T (p.Glu33155Ter)
n.446+8593C>A
n.220-3503C>A
c.103483G>T (p.Glu34495Ter)
c.77377G>T (p.Glu25793Ter)
c.77236G>T (p.Glu25746Ter)
c.103279G>T (p.Glu34427Ter)
c.98677G>T (p.Glu32893Ter)
c.98674G>T (p.Glu32892Ter)
c.95716G>T (p.Glu31906Ter)
c.77332G>T (p.Glu25778Ter)
c.98827G>T (p.Glu32943Ter)
c.98824G>T (p.Glu32942Ter)
c.98257G>T (p.Glu32753Ter)
c.95599G>T (p.Glu31867Ter)
c.95518G>T (p.Glu31840Ter)
c.77281G>T (p.Glu25761Ter)
c.67135G>T (p.Glu22379Ter)
2g.178532229C>GCA349411849TTN,TTN-AS1c.96682G>C (p.Glu32228Gln)
c.77767G>C (p.Glu25923Gln)
c.77566G>C (p.Glu25856Gln)
c.77191G>C (p.Glu25731Gln)
c.104386G>C (p.Glu34796Gln)
c.99463G>C (p.Glu33155Gln)
n.446+8593C>G
n.220-3503C>G
c.103483G>C (p.Glu34495Gln)
c.77377G>C (p.Glu25793Gln)
c.77236G>C (p.Glu25746Gln)
c.103279G>C (p.Glu34427Gln)
c.98677G>C (p.Glu32893Gln)
c.98674G>C (p.Glu32892Gln)
c.95716G>C (p.Glu31906Gln)
c.77332G>C (p.Glu25778Gln)
c.98827G>C (p.Glu32943Gln)
c.98824G>C (p.Glu32942Gln)
c.98257G>C (p.Glu32753Gln)
c.95599G>C (p.Glu31867Gln)
c.95518G>C (p.Glu31840Gln)
c.77281G>C (p.Glu25761Gln)
c.67135G>C (p.Glu22379Gln)
2g.178532229C>TCA349411848TTN,TTN-AS1c.96682G>A (p.Glu32228Lys)
c.77767G>A (p.Glu25923Lys)
c.77566G>A (p.Glu25856Lys)
c.77191G>A (p.Glu25731Lys)
c.104386G>A (p.Glu34796Lys)
c.99463G>A (p.Glu33155Lys)
n.446+8593C>T
n.220-3503C>T
c.103483G>A (p.Glu34495Lys)
c.77377G>A (p.Glu25793Lys)
c.77236G>A (p.Glu25746Lys)
c.103279G>A (p.Glu34427Lys)
c.98677G>A (p.Glu32893Lys)
c.98674G>A (p.Glu32892Lys)
c.95716G>A (p.Glu31906Lys)
c.77332G>A (p.Glu25778Lys)
c.98827G>A (p.Glu32943Lys)
c.98824G>A (p.Glu32942Lys)
c.98257G>A (p.Glu32753Lys)
c.95599G>A (p.Glu31867Lys)
c.95518G>A (p.Glu31840Lys)
c.77281G>A (p.Glu25761Lys)
c.67135G>A (p.Glu22379Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178532229_178532232delinsCCTTCA1310518133TTN,TTN-AS1c.96679_96682delinsAAGG (p.Lys32227=)
c.77764_77767delinsAAGG (p.Lys25922=)
c.77563_77566delinsAAGG (p.Lys25855=)
c.77188_77191delinsAAGG (p.Lys25730=)
c.104383_104386delinsAAGG (p.Lys34795=)
c.99460_99463delinsAAGG (p.Lys33154=)
n.446+8593_446+8596delinsCCTT
n.220-3503_220-3500delinsCCTT
c.103480_103483delinsAAGG (p.Lys34494=)
c.77374_77377delinsAAGG (p.Lys25792=)
c.77233_77236delinsAAGG (p.Lys25745=)
c.103276_103279delinsAAGG (p.Lys34426=)
c.98674_98677delinsAAGG (p.Lys32892=)
c.98671_98674delinsAAGG (p.Lys32891=)
c.95713_95716delinsAAGG (p.Lys31905=)
c.77329_77332delinsAAGG (p.Lys25777=)
c.98824_98827delinsAAGG (p.Lys32942=)
c.98821_98824delinsAAGG (p.Lys32941=)
c.98254_98257delinsAAGG (p.Lys32752=)
c.95596_95599delinsAAGG (p.Lys31866=)
c.95515_95518delinsAAGG (p.Lys31839=)
c.77278_77281delinsAAGG (p.Lys25760=)
c.67132_67135delinsAAGG (p.Lys22378=)
2g.178532230C>ACA349411851TTN,TTN-AS1c.96681G>T (p.Lys32227Asn)
c.77766G>T (p.Lys25922Asn)
c.77565G>T (p.Lys25855Asn)
c.77190G>T (p.Lys25730Asn)
c.104385G>T (p.Lys34795Asn)
c.99462G>T (p.Lys33154Asn)
n.446+8594C>A
n.220-3502C>A
c.103482G>T (p.Lys34494Asn)
c.77376G>T (p.Lys25792Asn)
c.77235G>T (p.Lys25745Asn)
c.103278G>T (p.Lys34426Asn)
c.98676G>T (p.Lys32892Asn)
c.98673G>T (p.Lys32891Asn)
c.95715G>T (p.Lys31905Asn)
c.77331G>T (p.Lys25777Asn)
c.98826G>T (p.Lys32942Asn)
c.98823G>T (p.Lys32941Asn)
c.98256G>T (p.Lys32752Asn)
c.95598G>T (p.Lys31866Asn)
c.95517G>T (p.Lys31839Asn)
c.77280G>T (p.Lys25760Asn)
c.67134G>T (p.Lys22378Asn)
2g.178532230C=CA1310518134TTN,TTN-AS1c.96681G= (p.Lys32227=)
c.77766G= (p.Lys25922=)
c.77565G= (p.Lys25855=)
c.77190G= (p.Lys25730=)
c.104385G= (p.Lys34795=)
c.99462G= (p.Lys33154=)
n.446+8594C=
n.220-3502C=
c.103482G= (p.Lys34494=)
c.77376G= (p.Lys25792=)
c.77235G= (p.Lys25745=)
c.103278G= (p.Lys34426=)
c.98676G= (p.Lys32892=)
c.98673G= (p.Lys32891=)
c.95715G= (p.Lys31905=)
c.77331G= (p.Lys25777=)
c.98826G= (p.Lys32942=)
c.98823G= (p.Lys32941=)
c.98256G= (p.Lys32752=)
c.95598G= (p.Lys31866=)
c.95517G= (p.Lys31839=)
c.77280G= (p.Lys25760=)
c.67134G= (p.Lys22378=)
2g.178532230C>GCA349411852TTN,TTN-AS1c.96681G>C (p.Lys32227Asn)
c.77766G>C (p.Lys25922Asn)
c.77565G>C (p.Lys25855Asn)
c.77190G>C (p.Lys25730Asn)
c.104385G>C (p.Lys34795Asn)
c.99462G>C (p.Lys33154Asn)
n.446+8594C>G
n.220-3502C>G
c.103482G>C (p.Lys34494Asn)
c.77376G>C (p.Lys25792Asn)
c.77235G>C (p.Lys25745Asn)
c.103278G>C (p.Lys34426Asn)
c.98676G>C (p.Lys32892Asn)
c.98673G>C (p.Lys32891Asn)
c.95715G>C (p.Lys31905Asn)
c.77331G>C (p.Lys25777Asn)
c.98826G>C (p.Lys32942Asn)
c.98823G>C (p.Lys32941Asn)
c.98256G>C (p.Lys32752Asn)
c.95598G>C (p.Lys31866Asn)
c.95517G>C (p.Lys31839Asn)
c.77280G>C (p.Lys25760Asn)
c.67134G>C (p.Lys22378Asn)
2g.178532230C>TCA141670TTN,TTN-AS1c.96681G>A (p.Lys32227=)
c.77766G>A (p.Lys25922=)
c.77565G>A (p.Lys25855=)
c.77190G>A (p.Lys25730=)
c.104385G>A (p.Lys34795=)
c.99462G>A (p.Lys33154=)
n.446+8594C>T
n.220-3502C>T
c.103482G>A (p.Lys34494=)
c.77376G>A (p.Lys25792=)
c.77235G>A (p.Lys25745=)
c.103278G>A (p.Lys34426=)
c.98676G>A (p.Lys32892=)
c.98673G>A (p.Lys32891=)
c.95715G>A (p.Lys31905=)
c.77331G>A (p.Lys25777=)
c.98826G>A (p.Lys32942=)
c.98823G>A (p.Lys32941=)
c.98256G>A (p.Lys32752=)
c.95598G>A (p.Lys31866=)
c.95517G>A (p.Lys31839=)
c.77280G>A (p.Lys25760=)
c.67134G>A (p.Lys22378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532230_178532232delCA1039708707TTN,TTN-AS1c.96679_96681del (p.Lys32227del)
c.77764_77766del (p.Lys25922del)
c.77563_77565del (p.Lys25855del)
c.77188_77190del (p.Lys25730del)
c.104383_104385del (p.Lys34795del)
c.99460_99462del (p.Lys33154del)
n.446+8594_446+8596del
n.220-3502_220-3500del
c.103480_103482del (p.Lys34494del)
c.77374_77376del (p.Lys25792del)
c.77233_77235del (p.Lys25745del)
c.103276_103278del (p.Lys34426del)
c.98674_98676del (p.Lys32892del)
c.98671_98673del (p.Lys32891del)
c.95713_95715del (p.Lys31905del)
c.77329_77331del (p.Lys25777del)
c.98824_98826del (p.Lys32942del)
c.98821_98823del (p.Lys32941del)
c.98254_98256del (p.Lys32752del)
c.95596_95598del (p.Lys31866del)
c.95515_95517del (p.Lys31839del)
c.77278_77280del (p.Lys25760del)
c.67132_67134del (p.Lys22378del)
 dbSNP gnomAD v3 gnomAD v4
2g.178532231T>ACA349411853TTN,TTN-AS1c.96680A>T (p.Lys32227Met)
c.77765A>T (p.Lys25922Met)
c.77564A>T (p.Lys25855Met)
c.77189A>T (p.Lys25730Met)
c.104384A>T (p.Lys34795Met)
c.99461A>T (p.Lys33154Met)
n.446+8595T>A
n.220-3501T>A
c.103481A>T (p.Lys34494Met)
c.77375A>T (p.Lys25792Met)
c.77234A>T (p.Lys25745Met)
c.103277A>T (p.Lys34426Met)
c.98675A>T (p.Lys32892Met)
c.98672A>T (p.Lys32891Met)
c.95714A>T (p.Lys31905Met)
c.77330A>T (p.Lys25777Met)
c.98825A>T (p.Lys32942Met)
c.98822A>T (p.Lys32941Met)
c.98255A>T (p.Lys32752Met)
c.95597A>T (p.Lys31866Met)
c.95516A>T (p.Lys31839Met)
c.77279A>T (p.Lys25760Met)
c.67133A>T (p.Lys22378Met)
2g.178532231T>CCA349411854TTN,TTN-AS1c.96680A>G (p.Lys32227Arg)
c.77765A>G (p.Lys25922Arg)
c.77564A>G (p.Lys25855Arg)
c.77189A>G (p.Lys25730Arg)
c.104384A>G (p.Lys34795Arg)
c.99461A>G (p.Lys33154Arg)
n.446+8595T>C
n.220-3501T>C
c.103481A>G (p.Lys34494Arg)
c.77375A>G (p.Lys25792Arg)
c.77234A>G (p.Lys25745Arg)
c.103277A>G (p.Lys34426Arg)
c.98675A>G (p.Lys32892Arg)
c.98672A>G (p.Lys32891Arg)
c.95714A>G (p.Lys31905Arg)
c.77330A>G (p.Lys25777Arg)
c.98825A>G (p.Lys32942Arg)
c.98822A>G (p.Lys32941Arg)
c.98255A>G (p.Lys32752Arg)
c.95597A>G (p.Lys31866Arg)
c.95516A>G (p.Lys31839Arg)
c.77279A>G (p.Lys25760Arg)
c.67133A>G (p.Lys22378Arg)
 ClinVar dbSNP gnomAD v4
2g.178532231T>GCA349411855TTN,TTN-AS1c.96680A>C (p.Lys32227Thr)
c.77765A>C (p.Lys25922Thr)
c.77564A>C (p.Lys25855Thr)
c.77189A>C (p.Lys25730Thr)
c.104384A>C (p.Lys34795Thr)
c.99461A>C (p.Lys33154Thr)
n.446+8595T>G
n.220-3501T>G
c.103481A>C (p.Lys34494Thr)
c.77375A>C (p.Lys25792Thr)
c.77234A>C (p.Lys25745Thr)
c.103277A>C (p.Lys34426Thr)
c.98675A>C (p.Lys32892Thr)
c.98672A>C (p.Lys32891Thr)
c.95714A>C (p.Lys31905Thr)
c.77330A>C (p.Lys25777Thr)
c.98825A>C (p.Lys32942Thr)
c.98822A>C (p.Lys32941Thr)
c.98255A>C (p.Lys32752Thr)
c.95597A>C (p.Lys31866Thr)
c.95516A>C (p.Lys31839Thr)
c.77279A>C (p.Lys25760Thr)
c.67133A>C (p.Lys22378Thr)
2g.178532231T=CA1310518135TTN,TTN-AS1c.96680A= (p.Lys32227=)
c.77765A= (p.Lys25922=)
c.77564A= (p.Lys25855=)
c.77189A= (p.Lys25730=)
c.104384A= (p.Lys34795=)
c.99461A= (p.Lys33154=)
n.446+8595T=
n.220-3501T=
c.103481A= (p.Lys34494=)
c.77375A= (p.Lys25792=)
c.77234A= (p.Lys25745=)
c.103277A= (p.Lys34426=)
c.98675A= (p.Lys32892=)
c.98672A= (p.Lys32891=)
c.95714A= (p.Lys31905=)
c.77330A= (p.Lys25777=)
c.98825A= (p.Lys32942=)
c.98822A= (p.Lys32941=)
c.98255A= (p.Lys32752=)
c.95597A= (p.Lys31866=)
c.95516A= (p.Lys31839=)
c.77279A= (p.Lys25760=)
c.67133A= (p.Lys22378=)
2g.178532232T>ACA349411856TTN,TTN-AS1c.96679A>T (p.Lys32227Ter)
c.77764A>T (p.Lys25922Ter)
c.77563A>T (p.Lys25855Ter)
c.77188A>T (p.Lys25730Ter)
c.104383A>T (p.Lys34795Ter)
c.99460A>T (p.Lys33154Ter)
n.446+8596T>A
n.220-3500T>A
c.103480A>T (p.Lys34494Ter)
c.77374A>T (p.Lys25792Ter)
c.77233A>T (p.Lys25745Ter)
c.103276A>T (p.Lys34426Ter)
c.98674A>T (p.Lys32892Ter)
c.98671A>T (p.Lys32891Ter)
c.95713A>T (p.Lys31905Ter)
c.77329A>T (p.Lys25777Ter)
c.98824A>T (p.Lys32942Ter)
c.98821A>T (p.Lys32941Ter)
c.98254A>T (p.Lys32752Ter)
c.95596A>T (p.Lys31866Ter)
c.95515A>T (p.Lys31839Ter)
c.77278A>T (p.Lys25760Ter)
c.67132A>T (p.Lys22378Ter)
2g.178532232T>CCA349411858TTN,TTN-AS1c.96679A>G (p.Lys32227Glu)
c.77764A>G (p.Lys25922Glu)
c.77563A>G (p.Lys25855Glu)
c.77188A>G (p.Lys25730Glu)
c.104383A>G (p.Lys34795Glu)
c.99460A>G (p.Lys33154Glu)
n.446+8596T>C
n.220-3500T>C
c.103480A>G (p.Lys34494Glu)
c.77374A>G (p.Lys25792Glu)
c.77233A>G (p.Lys25745Glu)
c.103276A>G (p.Lys34426Glu)
c.98674A>G (p.Lys32892Glu)
c.98671A>G (p.Lys32891Glu)
c.95713A>G (p.Lys31905Glu)
c.77329A>G (p.Lys25777Glu)
c.98824A>G (p.Lys32942Glu)
c.98821A>G (p.Lys32941Glu)
c.98254A>G (p.Lys32752Glu)
c.95596A>G (p.Lys31866Glu)
c.95515A>G (p.Lys31839Glu)
c.77278A>G (p.Lys25760Glu)
c.67132A>G (p.Lys22378Glu)
2g.178532232T>GCA349411857TTN,TTN-AS1c.96679A>C (p.Lys32227Gln)
c.77764A>C (p.Lys25922Gln)
c.77563A>C (p.Lys25855Gln)
c.77188A>C (p.Lys25730Gln)
c.104383A>C (p.Lys34795Gln)
c.99460A>C (p.Lys33154Gln)
n.446+8596T>G
n.220-3500T>G
c.103480A>C (p.Lys34494Gln)
c.77374A>C (p.Lys25792Gln)
c.77233A>C (p.Lys25745Gln)
c.103276A>C (p.Lys34426Gln)
c.98674A>C (p.Lys32892Gln)
c.98671A>C (p.Lys32891Gln)
c.95713A>C (p.Lys31905Gln)
c.77329A>C (p.Lys25777Gln)
c.98824A>C (p.Lys32942Gln)
c.98821A>C (p.Lys32941Gln)
c.98254A>C (p.Lys32752Gln)
c.95596A>C (p.Lys31866Gln)
c.95515A>C (p.Lys31839Gln)
c.77278A>C (p.Lys25760Gln)
c.67132A>C (p.Lys22378Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.178532232T=CA1310518136TTN,TTN-AS1c.96679A= (p.Lys32227=)
c.77764A= (p.Lys25922=)
c.77563A= (p.Lys25855=)
c.77188A= (p.Lys25730=)
c.104383A= (p.Lys34795=)
c.99460A= (p.Lys33154=)
n.446+8596T=
n.220-3500T=
c.103480A= (p.Lys34494=)
c.77374A= (p.Lys25792=)
c.77233A= (p.Lys25745=)
c.103276A= (p.Lys34426=)
c.98674A= (p.Lys32892=)
c.98671A= (p.Lys32891=)
c.95713A= (p.Lys31905=)
c.77329A= (p.Lys25777=)
c.98824A= (p.Lys32942=)
c.98821A= (p.Lys32941=)
c.98254A= (p.Lys32752=)
c.95596A= (p.Lys31866=)
c.95515A= (p.Lys31839=)
c.77278A= (p.Lys25760=)
c.67132A= (p.Lys22378=)
2g.178532233T>ACA430235943TTN,TTN-AS1c.96678A>T (p.Ser32226=)
c.77763A>T (p.Ser25921=)
c.77562A>T (p.Ser25854=)
c.77187A>T (p.Ser25729=)
c.104382A>T (p.Ser34794=)
c.99459A>T (p.Ser33153=)
n.446+8597T>A
n.220-3499T>A
c.103479A>T (p.Ser34493=)
c.77373A>T (p.Ser25791=)
c.77232A>T (p.Ser25744=)
c.103275A>T (p.Ser34425=)
c.98673A>T (p.Ser32891=)
c.98670A>T (p.Ser32890=)
c.95712A>T (p.Ser31904=)
c.77328A>T (p.Ser25776=)
c.98823A>T (p.Ser32941=)
c.98820A>T (p.Ser32940=)
c.98253A>T (p.Ser32751=)
c.95595A>T (p.Ser31865=)
c.95514A>T (p.Ser31838=)
c.77277A>T (p.Ser25759=)
c.67131A>T (p.Ser22377=)
2g.178532233T>CCA430235944TTN,TTN-AS1c.96678A>G (p.Ser32226=)
c.77763A>G (p.Ser25921=)
c.77562A>G (p.Ser25854=)
c.77187A>G (p.Ser25729=)
c.104382A>G (p.Ser34794=)
c.99459A>G (p.Ser33153=)
n.446+8597T>C
n.220-3499T>C
c.103479A>G (p.Ser34493=)
c.77373A>G (p.Ser25791=)
c.77232A>G (p.Ser25744=)
c.103275A>G (p.Ser34425=)
c.98673A>G (p.Ser32891=)
c.98670A>G (p.Ser32890=)
c.95712A>G (p.Ser31904=)
c.77328A>G (p.Ser25776=)
c.98823A>G (p.Ser32941=)
c.98820A>G (p.Ser32940=)
c.98253A>G (p.Ser32751=)
c.95595A>G (p.Ser31865=)
c.95514A>G (p.Ser31838=)
c.77277A>G (p.Ser25759=)
c.67131A>G (p.Ser22377=)
 ClinVar dbSNP
2g.178532233T>GCA430235945TTN,TTN-AS1c.96678A>C (p.Ser32226=)
c.77763A>C (p.Ser25921=)
c.77562A>C (p.Ser25854=)
c.77187A>C (p.Ser25729=)
c.104382A>C (p.Ser34794=)
c.99459A>C (p.Ser33153=)
n.446+8597T>G
n.220-3499T>G
c.103479A>C (p.Ser34493=)
c.77373A>C (p.Ser25791=)
c.77232A>C (p.Ser25744=)
c.103275A>C (p.Ser34425=)
c.98673A>C (p.Ser32891=)
c.98670A>C (p.Ser32890=)
c.95712A>C (p.Ser31904=)
c.77328A>C (p.Ser25776=)
c.98823A>C (p.Ser32941=)
c.98820A>C (p.Ser32940=)
c.98253A>C (p.Ser32751=)
c.95595A>C (p.Ser31865=)
c.95514A>C (p.Ser31838=)
c.77277A>C (p.Ser25759=)
c.67131A>C (p.Ser22377=)
2g.178532233T=CA1310518137TTN,TTN-AS1c.96678A= (p.Ser32226=)
c.77763A= (p.Ser25921=)
c.77562A= (p.Ser25854=)
c.77187A= (p.Ser25729=)
c.104382A= (p.Ser34794=)
c.99459A= (p.Ser33153=)
n.446+8597T=
n.220-3499T=
c.103479A= (p.Ser34493=)
c.77373A= (p.Ser25791=)
c.77232A= (p.Ser25744=)
c.103275A= (p.Ser34425=)
c.98673A= (p.Ser32891=)
c.98670A= (p.Ser32890=)
c.95712A= (p.Ser31904=)
c.77328A= (p.Ser25776=)
c.98823A= (p.Ser32941=)
c.98820A= (p.Ser32940=)
c.98253A= (p.Ser32751=)
c.95595A= (p.Ser31865=)
c.95514A= (p.Ser31838=)
c.77277A= (p.Ser25759=)
c.67131A= (p.Ser22377=)
2g.178532234G>ACA349411859TTN,TTN-AS1c.96677C>T (p.Ser32226Leu)
c.77762C>T (p.Ser25921Leu)
c.77561C>T (p.Ser25854Leu)
c.77186C>T (p.Ser25729Leu)
c.104381C>T (p.Ser34794Leu)
c.99458C>T (p.Ser33153Leu)
n.446+8598G>A
n.220-3498G>A
c.103478C>T (p.Ser34493Leu)
c.77372C>T (p.Ser25791Leu)
c.77231C>T (p.Ser25744Leu)
c.103274C>T (p.Ser34425Leu)
c.98672C>T (p.Ser32891Leu)
c.98669C>T (p.Ser32890Leu)
c.95711C>T (p.Ser31904Leu)
c.77327C>T (p.Ser25776Leu)
c.98822C>T (p.Ser32941Leu)
c.98819C>T (p.Ser32940Leu)
c.98252C>T (p.Ser32751Leu)
c.95594C>T (p.Ser31865Leu)
c.95513C>T (p.Ser31838Leu)
c.77276C>T (p.Ser25759Leu)
c.67130C>T (p.Ser22377Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532234G>CCA349411860TTN,TTN-AS1c.96677C>G (p.Ser32226Ter)
c.77762C>G (p.Ser25921Ter)
c.77561C>G (p.Ser25854Ter)
c.77186C>G (p.Ser25729Ter)
c.104381C>G (p.Ser34794Ter)
c.99458C>G (p.Ser33153Ter)
n.446+8598G>C
n.220-3498G>C
c.103478C>G (p.Ser34493Ter)
c.77372C>G (p.Ser25791Ter)
c.77231C>G (p.Ser25744Ter)
c.103274C>G (p.Ser34425Ter)
c.98672C>G (p.Ser32891Ter)
c.98669C>G (p.Ser32890Ter)
c.95711C>G (p.Ser31904Ter)
c.77327C>G (p.Ser25776Ter)
c.98822C>G (p.Ser32941Ter)
c.98819C>G (p.Ser32940Ter)
c.98252C>G (p.Ser32751Ter)
c.95594C>G (p.Ser31865Ter)
c.95513C>G (p.Ser31838Ter)
c.77276C>G (p.Ser25759Ter)
c.67130C>G (p.Ser22377Ter)
2g.178532234G=CA1310518138TTN,TTN-AS1c.96677C= (p.Ser32226=)
c.77762C= (p.Ser25921=)
c.77561C= (p.Ser25854=)
c.77186C= (p.Ser25729=)
c.104381C= (p.Ser34794=)
c.99458C= (p.Ser33153=)
n.446+8598G=
n.220-3498G=
c.103478C= (p.Ser34493=)
c.77372C= (p.Ser25791=)
c.77231C= (p.Ser25744=)
c.103274C= (p.Ser34425=)
c.98672C= (p.Ser32891=)
c.98669C= (p.Ser32890=)
c.95711C= (p.Ser31904=)
c.77327C= (p.Ser25776=)
c.98822C= (p.Ser32941=)
c.98819C= (p.Ser32940=)
c.98252C= (p.Ser32751=)
c.95594C= (p.Ser31865=)
c.95513C= (p.Ser31838=)
c.77276C= (p.Ser25759=)
c.67130C= (p.Ser22377=)
2g.178532234G>TCA349411861TTN,TTN-AS1c.96677C>A (p.Ser32226Ter)
c.77762C>A (p.Ser25921Ter)
c.77561C>A (p.Ser25854Ter)
c.77186C>A (p.Ser25729Ter)
c.104381C>A (p.Ser34794Ter)
c.99458C>A (p.Ser33153Ter)
n.446+8598G>T
n.220-3498G>T
c.103478C>A (p.Ser34493Ter)
c.77372C>A (p.Ser25791Ter)
c.77231C>A (p.Ser25744Ter)
c.103274C>A (p.Ser34425Ter)
c.98672C>A (p.Ser32891Ter)
c.98669C>A (p.Ser32890Ter)
c.95711C>A (p.Ser31904Ter)
c.77327C>A (p.Ser25776Ter)
c.98822C>A (p.Ser32941Ter)
c.98819C>A (p.Ser32940Ter)
c.98252C>A (p.Ser32751Ter)
c.95594C>A (p.Ser31865Ter)
c.95513C>A (p.Ser31838Ter)
c.77276C>A (p.Ser25759Ter)
c.67130C>A (p.Ser22377Ter)
2g.178532235A>CCA349411862TTN,TTN-AS1c.96676T>G (p.Ser32226Ala)
c.77761T>G (p.Ser25921Ala)
c.77560T>G (p.Ser25854Ala)
c.77185T>G (p.Ser25729Ala)
c.104380T>G (p.Ser34794Ala)
c.99457T>G (p.Ser33153Ala)
n.446+8599A>C
n.220-3497A>C
c.103477T>G (p.Ser34493Ala)
c.77371T>G (p.Ser25791Ala)
c.77230T>G (p.Ser25744Ala)
c.103273T>G (p.Ser34425Ala)
c.98671T>G (p.Ser32891Ala)
c.98668T>G (p.Ser32890Ala)
c.95710T>G (p.Ser31904Ala)
c.77326T>G (p.Ser25776Ala)
c.98821T>G (p.Ser32941Ala)
c.98818T>G (p.Ser32940Ala)
c.98251T>G (p.Ser32751Ala)
c.95593T>G (p.Ser31865Ala)
c.95512T>G (p.Ser31838Ala)
c.77275T>G (p.Ser25759Ala)
c.67129T>G (p.Ser22377Ala)
2g.178532235A>GCA349411863TTN,TTN-AS1c.96676T>C (p.Ser32226Pro)
c.77761T>C (p.Ser25921Pro)
c.77560T>C (p.Ser25854Pro)
c.77185T>C (p.Ser25729Pro)
c.104380T>C (p.Ser34794Pro)
c.99457T>C (p.Ser33153Pro)
n.446+8599A>G
n.220-3497A>G
c.103477T>C (p.Ser34493Pro)
c.77371T>C (p.Ser25791Pro)
c.77230T>C (p.Ser25744Pro)
c.103273T>C (p.Ser34425Pro)
c.98671T>C (p.Ser32891Pro)
c.98668T>C (p.Ser32890Pro)
c.95710T>C (p.Ser31904Pro)
c.77326T>C (p.Ser25776Pro)
c.98821T>C (p.Ser32941Pro)
c.98818T>C (p.Ser32940Pro)
c.98251T>C (p.Ser32751Pro)
c.95593T>C (p.Ser31865Pro)
c.95512T>C (p.Ser31838Pro)
c.77275T>C (p.Ser25759Pro)
c.67129T>C (p.Ser22377Pro)
2g.178532235A>TCA349411864TTN,TTN-AS1c.96676T>A (p.Ser32226Thr)
c.77761T>A (p.Ser25921Thr)
c.77560T>A (p.Ser25854Thr)
c.77185T>A (p.Ser25729Thr)
c.104380T>A (p.Ser34794Thr)
c.99457T>A (p.Ser33153Thr)
n.446+8599A>T
n.220-3497A>T
c.103477T>A (p.Ser34493Thr)
c.77371T>A (p.Ser25791Thr)
c.77230T>A (p.Ser25744Thr)
c.103273T>A (p.Ser34425Thr)
c.98671T>A (p.Ser32891Thr)
c.98668T>A (p.Ser32890Thr)
c.95710T>A (p.Ser31904Thr)
c.77326T>A (p.Ser25776Thr)
c.98821T>A (p.Ser32941Thr)
c.98818T>A (p.Ser32940Thr)
c.98251T>A (p.Ser32751Thr)
c.95593T>A (p.Ser31865Thr)
c.95512T>A (p.Ser31838Thr)
c.77275T>A (p.Ser25759Thr)
c.67129T>A (p.Ser22377Thr)
2g.178532236C>ACA349411865TTN,TTN-AS1c.96675G>T (p.Met32225Ile)
c.77760G>T (p.Met25920Ile)
c.77559G>T (p.Met25853Ile)
c.77184G>T (p.Met25728Ile)
c.104379G>T (p.Met34793Ile)
c.99456G>T (p.Met33152Ile)
n.446+8600C>A
n.220-3496C>A
c.103476G>T (p.Met34492Ile)
c.77370G>T (p.Met25790Ile)
c.77229G>T (p.Met25743Ile)
c.103272G>T (p.Met34424Ile)
c.98670G>T (p.Met32890Ile)
c.98667G>T (p.Met32889Ile)
c.95709G>T (p.Met31903Ile)
c.77325G>T (p.Met25775Ile)
c.98820G>T (p.Met32940Ile)
c.98817G>T (p.Met32939Ile)
c.98250G>T (p.Met32750Ile)
c.95592G>T (p.Met31864Ile)
c.95511G>T (p.Met31837Ile)
c.77274G>T (p.Met25758Ile)
c.67128G>T (p.Met22376Ile)
2g.178532236C>GCA349411866TTN,TTN-AS1c.96675G>C (p.Met32225Ile)
c.77760G>C (p.Met25920Ile)
c.77559G>C (p.Met25853Ile)
c.77184G>C (p.Met25728Ile)
c.104379G>C (p.Met34793Ile)
c.99456G>C (p.Met33152Ile)
n.446+8600C>G
n.220-3496C>G
c.103476G>C (p.Met34492Ile)
c.77370G>C (p.Met25790Ile)
c.77229G>C (p.Met25743Ile)
c.103272G>C (p.Met34424Ile)
c.98670G>C (p.Met32890Ile)
c.98667G>C (p.Met32889Ile)
c.95709G>C (p.Met31903Ile)
c.77325G>C (p.Met25775Ile)
c.98820G>C (p.Met32940Ile)
c.98817G>C (p.Met32939Ile)
c.98250G>C (p.Met32750Ile)
c.95592G>C (p.Met31864Ile)
c.95511G>C (p.Met31837Ile)
c.77274G>C (p.Met25758Ile)
c.67128G>C (p.Met22376Ile)
2g.178532236C>TCA349411867TTN,TTN-AS1c.96675G>A (p.Met32225Ile)
c.77760G>A (p.Met25920Ile)
c.77559G>A (p.Met25853Ile)
c.77184G>A (p.Met25728Ile)
c.104379G>A (p.Met34793Ile)
c.99456G>A (p.Met33152Ile)
n.446+8600C>T
n.220-3496C>T
c.103476G>A (p.Met34492Ile)
c.77370G>A (p.Met25790Ile)
c.77229G>A (p.Met25743Ile)
c.103272G>A (p.Met34424Ile)
c.98670G>A (p.Met32890Ile)
c.98667G>A (p.Met32889Ile)
c.95709G>A (p.Met31903Ile)
c.77325G>A (p.Met25775Ile)
c.98820G>A (p.Met32940Ile)
c.98817G>A (p.Met32939Ile)
c.98250G>A (p.Met32750Ile)
c.95592G>A (p.Met31864Ile)
c.95511G>A (p.Met31837Ile)
c.77274G>A (p.Met25758Ile)
c.67128G>A (p.Met22376Ile)
2g.178532237A=CA1310518139TTN,TTN-AS1c.96674T= (p.Met32225=)
c.77759T= (p.Met25920=)
c.77558T= (p.Met25853=)
c.77183T= (p.Met25728=)
c.104378T= (p.Met34793=)
c.99455T= (p.Met33152=)
n.446+8601A=
n.220-3495A=
c.103475T= (p.Met34492=)
c.77369T= (p.Met25790=)
c.77228T= (p.Met25743=)
c.103271T= (p.Met34424=)
c.98669T= (p.Met32890=)
c.98666T= (p.Met32889=)
c.95708T= (p.Met31903=)
c.77324T= (p.Met25775=)
c.98819T= (p.Met32940=)
c.98816T= (p.Met32939=)
c.98249T= (p.Met32750=)
c.95591T= (p.Met31864=)
c.95510T= (p.Met31837=)
c.77273T= (p.Met25758=)
c.67127T= (p.Met22376=)
2g.178532237A>CCA349411868TTN,TTN-AS1c.96674T>G (p.Met32225Arg)
c.77759T>G (p.Met25920Arg)
c.77558T>G (p.Met25853Arg)
c.77183T>G (p.Met25728Arg)
c.104378T>G (p.Met34793Arg)
c.99455T>G (p.Met33152Arg)
n.446+8601A>C
n.220-3495A>C
c.103475T>G (p.Met34492Arg)
c.77369T>G (p.Met25790Arg)
c.77228T>G (p.Met25743Arg)
c.103271T>G (p.Met34424Arg)
c.98669T>G (p.Met32890Arg)
c.98666T>G (p.Met32889Arg)
c.95708T>G (p.Met31903Arg)
c.77324T>G (p.Met25775Arg)
c.98819T>G (p.Met32940Arg)
c.98816T>G (p.Met32939Arg)
c.98249T>G (p.Met32750Arg)
c.95591T>G (p.Met31864Arg)
c.95510T>G (p.Met31837Arg)
c.77273T>G (p.Met25758Arg)
c.67127T>G (p.Met22376Arg)
 gnomAD v4
2g.178532237A>GCA1985432TTN,TTN-AS1c.96674T>C (p.Met32225Thr)
c.77759T>C (p.Met25920Thr)
c.77558T>C (p.Met25853Thr)
c.77183T>C (p.Met25728Thr)
c.104378T>C (p.Met34793Thr)
c.99455T>C (p.Met33152Thr)
n.446+8601A>G
n.220-3495A>G
c.103475T>C (p.Met34492Thr)
c.77369T>C (p.Met25790Thr)
c.77228T>C (p.Met25743Thr)
c.103271T>C (p.Met34424Thr)
c.98669T>C (p.Met32890Thr)
c.98666T>C (p.Met32889Thr)
c.95708T>C (p.Met31903Thr)
c.77324T>C (p.Met25775Thr)
c.98819T>C (p.Met32940Thr)
c.98816T>C (p.Met32939Thr)
c.98249T>C (p.Met32750Thr)
c.95591T>C (p.Met31864Thr)
c.95510T>C (p.Met31837Thr)
c.77273T>C (p.Met25758Thr)
c.67127T>C (p.Met22376Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532237A>TCA349411869TTN,TTN-AS1c.96674T>A (p.Met32225Lys)
c.77759T>A (p.Met25920Lys)
c.77558T>A (p.Met25853Lys)
c.77183T>A (p.Met25728Lys)
c.104378T>A (p.Met34793Lys)
c.99455T>A (p.Met33152Lys)
n.446+8601A>T
n.220-3495A>T
c.103475T>A (p.Met34492Lys)
c.77369T>A (p.Met25790Lys)
c.77228T>A (p.Met25743Lys)
c.103271T>A (p.Met34424Lys)
c.98669T>A (p.Met32890Lys)
c.98666T>A (p.Met32889Lys)
c.95708T>A (p.Met31903Lys)
c.77324T>A (p.Met25775Lys)
c.98819T>A (p.Met32940Lys)
c.98816T>A (p.Met32939Lys)
c.98249T>A (p.Met32750Lys)
c.95591T>A (p.Met31864Lys)
c.95510T>A (p.Met31837Lys)
c.77273T>A (p.Met25758Lys)
c.67127T>A (p.Met22376Lys)
2g.178532238T>ACA349411870TTN,TTN-AS1c.96673A>T (p.Met32225Leu)
c.77758A>T (p.Met25920Leu)
c.77557A>T (p.Met25853Leu)
c.77182A>T (p.Met25728Leu)
c.104377A>T (p.Met34793Leu)
c.99454A>T (p.Met33152Leu)
n.446+8602T>A
n.220-3494T>A
c.103474A>T (p.Met34492Leu)
c.77368A>T (p.Met25790Leu)
c.77227A>T (p.Met25743Leu)
c.103270A>T (p.Met34424Leu)
c.98668A>T (p.Met32890Leu)
c.98665A>T (p.Met32889Leu)
c.95707A>T (p.Met31903Leu)
c.77323A>T (p.Met25775Leu)
c.98818A>T (p.Met32940Leu)
c.98815A>T (p.Met32939Leu)
c.98248A>T (p.Met32750Leu)
c.95590A>T (p.Met31864Leu)
c.95509A>T (p.Met31837Leu)
c.77272A>T (p.Met25758Leu)
c.67126A>T (p.Met22376Leu)
2g.178532238T>CCA349411871TTN,TTN-AS1c.96673A>G (p.Met32225Val)
c.77758A>G (p.Met25920Val)
c.77557A>G (p.Met25853Val)
c.77182A>G (p.Met25728Val)
c.104377A>G (p.Met34793Val)
c.99454A>G (p.Met33152Val)
n.446+8602T>C
n.220-3494T>C
c.103474A>G (p.Met34492Val)
c.77368A>G (p.Met25790Val)
c.77227A>G (p.Met25743Val)
c.103270A>G (p.Met34424Val)
c.98668A>G (p.Met32890Val)
c.98665A>G (p.Met32889Val)
c.95707A>G (p.Met31903Val)
c.77323A>G (p.Met25775Val)
c.98818A>G (p.Met32940Val)
c.98815A>G (p.Met32939Val)
c.98248A>G (p.Met32750Val)
c.95590A>G (p.Met31864Val)
c.95509A>G (p.Met31837Val)
c.77272A>G (p.Met25758Val)
c.67126A>G (p.Met22376Val)
 gnomAD v4
2g.178532238T>GCA284286TTN,TTN-AS1c.96673A>C (p.Met32225Leu)
c.77758A>C (p.Met25920Leu)
c.77557A>C (p.Met25853Leu)
c.77182A>C (p.Met25728Leu)
c.104377A>C (p.Met34793Leu)
c.99454A>C (p.Met33152Leu)
n.446+8602T>G
n.220-3494T>G
c.103474A>C (p.Met34492Leu)
c.77368A>C (p.Met25790Leu)
c.77227A>C (p.Met25743Leu)
c.103270A>C (p.Met34424Leu)
c.98668A>C (p.Met32890Leu)
c.98665A>C (p.Met32889Leu)
c.95707A>C (p.Met31903Leu)
c.77323A>C (p.Met25775Leu)
c.98818A>C (p.Met32940Leu)
c.98815A>C (p.Met32939Leu)
c.98248A>C (p.Met32750Leu)
c.95590A>C (p.Met31864Leu)
c.95509A>C (p.Met31837Leu)
c.77272A>C (p.Met25758Leu)
c.67126A>C (p.Met22376Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532238T=CA1310518140TTN,TTN-AS1c.96673A= (p.Met32225=)
c.77758A= (p.Met25920=)
c.77557A= (p.Met25853=)
c.77182A= (p.Met25728=)
c.104377A= (p.Met34793=)
c.99454A= (p.Met33152=)
n.446+8602T=
n.220-3494T=
c.103474A= (p.Met34492=)
c.77368A= (p.Met25790=)
c.77227A= (p.Met25743=)
c.103270A= (p.Met34424=)
c.98668A= (p.Met32890=)
c.98665A= (p.Met32889=)
c.95707A= (p.Met31903=)
c.77323A= (p.Met25775=)
c.98818A= (p.Met32940=)
c.98815A= (p.Met32939=)
c.98248A= (p.Met32750=)
c.95590A= (p.Met31864=)
c.95509A= (p.Met31837=)
c.77272A= (p.Met25758=)
c.67126A= (p.Met22376=)
2g.178532239G>ACA430235946TTN,TTN-AS1c.96672C>T (p.Phe32224=)
c.77757C>T (p.Phe25919=)
c.77556C>T (p.Phe25852=)
c.77181C>T (p.Phe25727=)
c.104376C>T (p.Phe34792=)
c.99453C>T (p.Phe33151=)
n.446+8603G>A
n.220-3493G>A
c.103473C>T (p.Phe34491=)
c.77367C>T (p.Phe25789=)
c.77226C>T (p.Phe25742=)
c.103269C>T (p.Phe34423=)
c.98667C>T (p.Phe32889=)
c.98664C>T (p.Phe32888=)
c.95706C>T (p.Phe31902=)
c.77322C>T (p.Phe25774=)
c.98817C>T (p.Phe32939=)
c.98814C>T (p.Phe32938=)
c.98247C>T (p.Phe32749=)
c.95589C>T (p.Phe31863=)
c.95508C>T (p.Phe31836=)
c.77271C>T (p.Phe25757=)
c.67125C>T (p.Phe22375=)
 COSMIC COSMIC COSMIC COSMIC
2g.178532239G>CCA349411872TTN,TTN-AS1c.96672C>G (p.Phe32224Leu)
c.77757C>G (p.Phe25919Leu)
c.77556C>G (p.Phe25852Leu)
c.77181C>G (p.Phe25727Leu)
c.104376C>G (p.Phe34792Leu)
c.99453C>G (p.Phe33151Leu)
n.446+8603G>C
n.220-3493G>C
c.103473C>G (p.Phe34491Leu)
c.77367C>G (p.Phe25789Leu)
c.77226C>G (p.Phe25742Leu)
c.103269C>G (p.Phe34423Leu)
c.98667C>G (p.Phe32889Leu)
c.98664C>G (p.Phe32888Leu)
c.95706C>G (p.Phe31902Leu)
c.77322C>G (p.Phe25774Leu)
c.98817C>G (p.Phe32939Leu)
c.98814C>G (p.Phe32938Leu)
c.98247C>G (p.Phe32749Leu)
c.95589C>G (p.Phe31863Leu)
c.95508C>G (p.Phe31836Leu)
c.77271C>G (p.Phe25757Leu)
c.67125C>G (p.Phe22375Leu)
 gnomAD v4
2g.178532239G>TCA349411873TTN,TTN-AS1c.96672C>A (p.Phe32224Leu)
c.77757C>A (p.Phe25919Leu)
c.77556C>A (p.Phe25852Leu)
c.77181C>A (p.Phe25727Leu)
c.104376C>A (p.Phe34792Leu)
c.99453C>A (p.Phe33151Leu)
n.446+8603G>T
n.220-3493G>T
c.103473C>A (p.Phe34491Leu)
c.77367C>A (p.Phe25789Leu)
c.77226C>A (p.Phe25742Leu)
c.103269C>A (p.Phe34423Leu)
c.98667C>A (p.Phe32889Leu)
c.98664C>A (p.Phe32888Leu)
c.95706C>A (p.Phe31902Leu)
c.77322C>A (p.Phe25774Leu)
c.98817C>A (p.Phe32939Leu)
c.98814C>A (p.Phe32938Leu)
c.98247C>A (p.Phe32749Leu)
c.95589C>A (p.Phe31863Leu)
c.95508C>A (p.Phe31836Leu)
c.77271C>A (p.Phe25757Leu)
c.67125C>A (p.Phe22375Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178532239_178532244delinsGAAGTCCA1310518141TTN,TTN-AS1c.96667_96672delinsGACTTC (p.Asp32223=)
c.77752_77757delinsGACTTC (p.Asp25918=)
c.77551_77556delinsGACTTC (p.Asp25851=)
c.77176_77181delinsGACTTC (p.Asp25726=)
c.104371_104376delinsGACTTC (p.Asp34791=)
c.99448_99453delinsGACTTC (p.Asp33150=)
n.446+8603_446+8608delinsGAAGTC
n.220-3493_220-3488delinsGAAGTC
c.103468_103473delinsGACTTC (p.Asp34490=)
c.77362_77367delinsGACTTC (p.Asp25788=)
c.77221_77226delinsGACTTC (p.Asp25741=)
c.103264_103269delinsGACTTC (p.Asp34422=)
c.98662_98667delinsGACTTC (p.Asp32888=)
c.98659_98664delinsGACTTC (p.Asp32887=)
c.95701_95706delinsGACTTC (p.Asp31901=)
c.77317_77322delinsGACTTC (p.Asp25773=)
c.98812_98817delinsGACTTC (p.Asp32938=)
c.98809_98814delinsGACTTC (p.Asp32937=)
c.98242_98247delinsGACTTC (p.Asp32748=)
c.95584_95589delinsGACTTC (p.Asp31862=)
c.95503_95508delinsGACTTC (p.Asp31835=)
c.77266_77271delinsGACTTC (p.Asp25756=)
c.67120_67125delinsGACTTC (p.Asp22374=)
2g.178532240A>CCA349411874TTN,TTN-AS1c.96671T>G (p.Phe32224Cys)
c.77756T>G (p.Phe25919Cys)
c.77555T>G (p.Phe25852Cys)
c.77180T>G (p.Phe25727Cys)
c.104375T>G (p.Phe34792Cys)
c.99452T>G (p.Phe33151Cys)
n.446+8604A>C
n.220-3492A>C
c.103472T>G (p.Phe34491Cys)
c.77366T>G (p.Phe25789Cys)
c.77225T>G (p.Phe25742Cys)
c.103268T>G (p.Phe34423Cys)
c.98666T>G (p.Phe32889Cys)
c.98663T>G (p.Phe32888Cys)
c.95705T>G (p.Phe31902Cys)
c.77321T>G (p.Phe25774Cys)
c.98816T>G (p.Phe32939Cys)
c.98813T>G (p.Phe32938Cys)
c.98246T>G (p.Phe32749Cys)
c.95588T>G (p.Phe31863Cys)
c.95507T>G (p.Phe31836Cys)
c.77270T>G (p.Phe25757Cys)
c.67124T>G (p.Phe22375Cys)
2g.178532240A>GCA349411875TTN,TTN-AS1c.96671T>C (p.Phe32224Ser)
c.77756T>C (p.Phe25919Ser)
c.77555T>C (p.Phe25852Ser)
c.77180T>C (p.Phe25727Ser)
c.104375T>C (p.Phe34792Ser)
c.99452T>C (p.Phe33151Ser)
n.446+8604A>G
n.220-3492A>G
c.103472T>C (p.Phe34491Ser)
c.77366T>C (p.Phe25789Ser)
c.77225T>C (p.Phe25742Ser)
c.103268T>C (p.Phe34423Ser)
c.98666T>C (p.Phe32889Ser)
c.98663T>C (p.Phe32888Ser)
c.95705T>C (p.Phe31902Ser)
c.77321T>C (p.Phe25774Ser)
c.98816T>C (p.Phe32939Ser)
c.98813T>C (p.Phe32938Ser)
c.98246T>C (p.Phe32749Ser)
c.95588T>C (p.Phe31863Ser)
c.95507T>C (p.Phe31836Ser)
c.77270T>C (p.Phe25757Ser)
c.67124T>C (p.Phe22375Ser)
2g.178532240A>TCA349411876TTN,TTN-AS1c.96671T>A (p.Phe32224Tyr)
c.77756T>A (p.Phe25919Tyr)
c.77555T>A (p.Phe25852Tyr)
c.77180T>A (p.Phe25727Tyr)
c.104375T>A (p.Phe34792Tyr)
c.99452T>A (p.Phe33151Tyr)
n.446+8604A>T
n.220-3492A>T
c.103472T>A (p.Phe34491Tyr)
c.77366T>A (p.Phe25789Tyr)
c.77225T>A (p.Phe25742Tyr)
c.103268T>A (p.Phe34423Tyr)
c.98666T>A (p.Phe32889Tyr)
c.98663T>A (p.Phe32888Tyr)
c.95705T>A (p.Phe31902Tyr)
c.77321T>A (p.Phe25774Tyr)
c.98816T>A (p.Phe32939Tyr)
c.98813T>A (p.Phe32938Tyr)
c.98246T>A (p.Phe32749Tyr)
c.95588T>A (p.Phe31863Tyr)
c.95507T>A (p.Phe31836Tyr)
c.77270T>A (p.Phe25757Tyr)
c.67124T>A (p.Phe22375Tyr)
2g.178532244_178532248delCA761288186TTN,TTN-AS1c.96667_96671del (p.Asp32223HisfsTer8)
c.77752_77756del (p.Asp25918HisfsTer8)
c.77551_77555del (p.Asp25851HisfsTer8)
c.77176_77180del (p.Asp25726HisfsTer8)
c.104371_104375del (p.Asp34791HisfsTer8)
c.99448_99452del (p.Asp33150HisfsTer8)
n.446+8608_446+8612del
n.220-3488_220-3484del
c.103468_103472del (p.Asp34490HisfsTer8)
c.77362_77366del (p.Asp25788HisfsTer8)
c.77221_77225del (p.Asp25741HisfsTer8)
c.103264_103268del (p.Asp34422HisfsTer8)
c.98662_98666del (p.Asp32888HisfsTer8)
c.98659_98663del (p.Asp32887HisfsTer8)
c.95701_95705del (p.Asp31901HisfsTer8)
c.77317_77321del (p.Asp25773HisfsTer8)
c.98812_98816del (p.Asp32938HisfsTer8)
c.98809_98813del (p.Asp32937HisfsTer8)
c.98242_98246del (p.Asp32748HisfsTer8)
c.95584_95588del (p.Asp31862HisfsTer8)
c.95503_95507del (p.Asp31835HisfsTer8)
c.77266_77270del (p.Asp25756HisfsTer8)
c.67120_67124del (p.Asp22374HisfsTer8)
 dbSNP gnomAD v3 gnomAD v4
2g.178532241A>CCA349411879TTN,TTN-AS1c.96670T>G (p.Phe32224Val)
c.77755T>G (p.Phe25919Val)
c.77554T>G (p.Phe25852Val)
c.77179T>G (p.Phe25727Val)
c.104374T>G (p.Phe34792Val)
c.99451T>G (p.Phe33151Val)
n.446+8605A>C
n.220-3491A>C
c.103471T>G (p.Phe34491Val)
c.77365T>G (p.Phe25789Val)
c.77224T>G (p.Phe25742Val)
c.103267T>G (p.Phe34423Val)
c.98665T>G (p.Phe32889Val)
c.98662T>G (p.Phe32888Val)
c.95704T>G (p.Phe31902Val)
c.77320T>G (p.Phe25774Val)
c.98815T>G (p.Phe32939Val)
c.98812T>G (p.Phe32938Val)
c.98245T>G (p.Phe32749Val)
c.95587T>G (p.Phe31863Val)
c.95506T>G (p.Phe31836Val)
c.77269T>G (p.Phe25757Val)
c.67123T>G (p.Phe22375Val)
2g.178532241A>GCA349411877TTN,TTN-AS1c.96670T>C (p.Phe32224Leu)
c.77755T>C (p.Phe25919Leu)
c.77554T>C (p.Phe25852Leu)
c.77179T>C (p.Phe25727Leu)
c.104374T>C (p.Phe34792Leu)
c.99451T>C (p.Phe33151Leu)
n.446+8605A>G
n.220-3491A>G
c.103471T>C (p.Phe34491Leu)
c.77365T>C (p.Phe25789Leu)
c.77224T>C (p.Phe25742Leu)
c.103267T>C (p.Phe34423Leu)
c.98665T>C (p.Phe32889Leu)
c.98662T>C (p.Phe32888Leu)
c.95704T>C (p.Phe31902Leu)
c.77320T>C (p.Phe25774Leu)
c.98815T>C (p.Phe32939Leu)
c.98812T>C (p.Phe32938Leu)
c.98245T>C (p.Phe32749Leu)
c.95587T>C (p.Phe31863Leu)
c.95506T>C (p.Phe31836Leu)
c.77269T>C (p.Phe25757Leu)
c.67123T>C (p.Phe22375Leu)
2g.178532241A>TCA349411878TTN,TTN-AS1c.96670T>A (p.Phe32224Ile)
c.77755T>A (p.Phe25919Ile)
c.77554T>A (p.Phe25852Ile)
c.77179T>A (p.Phe25727Ile)
c.104374T>A (p.Phe34792Ile)
c.99451T>A (p.Phe33151Ile)
n.446+8605A>T
n.220-3491A>T
c.103471T>A (p.Phe34491Ile)
c.77365T>A (p.Phe25789Ile)
c.77224T>A (p.Phe25742Ile)
c.103267T>A (p.Phe34423Ile)
c.98665T>A (p.Phe32889Ile)
c.98662T>A (p.Phe32888Ile)
c.95704T>A (p.Phe31902Ile)
c.77320T>A (p.Phe25774Ile)
c.98815T>A (p.Phe32939Ile)
c.98812T>A (p.Phe32938Ile)
c.98245T>A (p.Phe32749Ile)
c.95587T>A (p.Phe31863Ile)
c.95506T>A (p.Phe31836Ile)
c.77269T>A (p.Phe25757Ile)
c.67123T>A (p.Phe22375Ile)
2g.178532242G>ACA430235947TTN,TTN-AS1c.96669C>T (p.Asp32223=)
c.77754C>T (p.Asp25918=)
c.77553C>T (p.Asp25851=)
c.77178C>T (p.Asp25726=)
c.104373C>T (p.Asp34791=)
c.99450C>T (p.Asp33150=)
n.446+8606G>A
n.220-3490G>A
c.103470C>T (p.Asp34490=)
c.77364C>T (p.Asp25788=)
c.77223C>T (p.Asp25741=)
c.103266C>T (p.Asp34422=)
c.98664C>T (p.Asp32888=)
c.98661C>T (p.Asp32887=)
c.95703C>T (p.Asp31901=)
c.77319C>T (p.Asp25773=)
c.98814C>T (p.Asp32938=)
c.98811C>T (p.Asp32937=)
c.98244C>T (p.Asp32748=)
c.95586C>T (p.Asp31862=)
c.95505C>T (p.Asp31835=)
c.77268C>T (p.Asp25756=)
c.67122C>T (p.Asp22374=)
 gnomAD v4
2g.178532242G>CCA349411880TTN,TTN-AS1c.96669C>G (p.Asp32223Glu)
c.77754C>G (p.Asp25918Glu)
c.77553C>G (p.Asp25851Glu)
c.77178C>G (p.Asp25726Glu)
c.104373C>G (p.Asp34791Glu)
c.99450C>G (p.Asp33150Glu)
n.446+8606G>C
n.220-3490G>C
c.103470C>G (p.Asp34490Glu)
c.77364C>G (p.Asp25788Glu)
c.77223C>G (p.Asp25741Glu)
c.103266C>G (p.Asp34422Glu)
c.98664C>G (p.Asp32888Glu)
c.98661C>G (p.Asp32887Glu)
c.95703C>G (p.Asp31901Glu)
c.77319C>G (p.Asp25773Glu)
c.98814C>G (p.Asp32938Glu)
c.98811C>G (p.Asp32937Glu)
c.98244C>G (p.Asp32748Glu)
c.95586C>G (p.Asp31862Glu)
c.95505C>G (p.Asp31835Glu)
c.77268C>G (p.Asp25756Glu)
c.67122C>G (p.Asp22374Glu)
2g.178532242G>TCA349411881TTN,TTN-AS1c.96669C>A (p.Asp32223Glu)
c.77754C>A (p.Asp25918Glu)
c.77553C>A (p.Asp25851Glu)
c.77178C>A (p.Asp25726Glu)
c.104373C>A (p.Asp34791Glu)
c.99450C>A (p.Asp33150Glu)
n.446+8606G>T
n.220-3490G>T
c.103470C>A (p.Asp34490Glu)
c.77364C>A (p.Asp25788Glu)
c.77223C>A (p.Asp25741Glu)
c.103266C>A (p.Asp34422Glu)
c.98664C>A (p.Asp32888Glu)
c.98661C>A (p.Asp32887Glu)
c.95703C>A (p.Asp31901Glu)
c.77319C>A (p.Asp25773Glu)
c.98814C>A (p.Asp32938Glu)
c.98811C>A (p.Asp32937Glu)
c.98244C>A (p.Asp32748Glu)
c.95586C>A (p.Asp31862Glu)
c.95505C>A (p.Asp31835Glu)
c.77268C>A (p.Asp25756Glu)
c.67122C>A (p.Asp22374Glu)
2g.178532243T>ACA349411882TTN,TTN-AS1c.96668A>T (p.Asp32223Val)
c.77753A>T (p.Asp25918Val)
c.77552A>T (p.Asp25851Val)
c.77177A>T (p.Asp25726Val)
c.104372A>T (p.Asp34791Val)
c.99449A>T (p.Asp33150Val)
n.446+8607T>A
n.220-3489T>A
c.103469A>T (p.Asp34490Val)
c.77363A>T (p.Asp25788Val)
c.77222A>T (p.Asp25741Val)
c.103265A>T (p.Asp34422Val)
c.98663A>T (p.Asp32888Val)
c.98660A>T (p.Asp32887Val)
c.95702A>T (p.Asp31901Val)
c.77318A>T (p.Asp25773Val)
c.98813A>T (p.Asp32938Val)
c.98810A>T (p.Asp32937Val)
c.98243A>T (p.Asp32748Val)
c.95585A>T (p.Asp31862Val)
c.95504A>T (p.Asp31835Val)
c.77267A>T (p.Asp25756Val)
c.67121A>T (p.Asp22374Val)
2g.178532243T>CCA349411883TTN,TTN-AS1c.96668A>G (p.Asp32223Gly)
c.77753A>G (p.Asp25918Gly)
c.77552A>G (p.Asp25851Gly)
c.77177A>G (p.Asp25726Gly)
c.104372A>G (p.Asp34791Gly)
c.99449A>G (p.Asp33150Gly)
n.446+8607T>C
n.220-3489T>C
c.103469A>G (p.Asp34490Gly)
c.77363A>G (p.Asp25788Gly)
c.77222A>G (p.Asp25741Gly)
c.103265A>G (p.Asp34422Gly)
c.98663A>G (p.Asp32888Gly)
c.98660A>G (p.Asp32887Gly)
c.95702A>G (p.Asp31901Gly)
c.77318A>G (p.Asp25773Gly)
c.98813A>G (p.Asp32938Gly)
c.98810A>G (p.Asp32937Gly)
c.98243A>G (p.Asp32748Gly)
c.95585A>G (p.Asp31862Gly)
c.95504A>G (p.Asp31835Gly)
c.77267A>G (p.Asp25756Gly)
c.67121A>G (p.Asp22374Gly)
2g.178532243T>GCA349411884TTN,TTN-AS1c.96668A>C (p.Asp32223Ala)
c.77753A>C (p.Asp25918Ala)
c.77552A>C (p.Asp25851Ala)
c.77177A>C (p.Asp25726Ala)
c.104372A>C (p.Asp34791Ala)
c.99449A>C (p.Asp33150Ala)
n.446+8607T>G
n.220-3489T>G
c.103469A>C (p.Asp34490Ala)
c.77363A>C (p.Asp25788Ala)
c.77222A>C (p.Asp25741Ala)
c.103265A>C (p.Asp34422Ala)
c.98663A>C (p.Asp32888Ala)
c.98660A>C (p.Asp32887Ala)
c.95702A>C (p.Asp31901Ala)
c.77318A>C (p.Asp25773Ala)
c.98813A>C (p.Asp32938Ala)
c.98810A>C (p.Asp32937Ala)
c.98243A>C (p.Asp32748Ala)
c.95585A>C (p.Asp31862Ala)
c.95504A>C (p.Asp31835Ala)
c.77267A>C (p.Asp25756Ala)
c.67121A>C (p.Asp22374Ala)
 gnomAD v4
2g.178532244C>ACA349411885TTN,TTN-AS1c.96667G>T (p.Asp32223Tyr)
c.77752G>T (p.Asp25918Tyr)
c.77551G>T (p.Asp25851Tyr)
c.77176G>T (p.Asp25726Tyr)
c.104371G>T (p.Asp34791Tyr)
c.99448G>T (p.Asp33150Tyr)
n.446+8608C>A
n.220-3488C>A
c.103468G>T (p.Asp34490Tyr)
c.77362G>T (p.Asp25788Tyr)
c.77221G>T (p.Asp25741Tyr)
c.103264G>T (p.Asp34422Tyr)
c.98662G>T (p.Asp32888Tyr)
c.98659G>T (p.Asp32887Tyr)
c.95701G>T (p.Asp31901Tyr)
c.77317G>T (p.Asp25773Tyr)
c.98812G>T (p.Asp32938Tyr)
c.98809G>T (p.Asp32937Tyr)
c.98242G>T (p.Asp32748Tyr)
c.95584G>T (p.Asp31862Tyr)
c.95503G>T (p.Asp31835Tyr)
c.77266G>T (p.Asp25756Tyr)
c.67120G>T (p.Asp22374Tyr)
 dbSNP gnomAD v4
2g.178532244C=CA1310518142TTN,TTN-AS1c.96667G= (p.Asp32223=)
c.77752G= (p.Asp25918=)
c.77551G= (p.Asp25851=)
c.77176G= (p.Asp25726=)
c.104371G= (p.Asp34791=)
c.99448G= (p.Asp33150=)
n.446+8608C=
n.220-3488C=
c.103468G= (p.Asp34490=)
c.77362G= (p.Asp25788=)
c.77221G= (p.Asp25741=)
c.103264G= (p.Asp34422=)
c.98662G= (p.Asp32888=)
c.98659G= (p.Asp32887=)
c.95701G= (p.Asp31901=)
c.77317G= (p.Asp25773=)
c.98812G= (p.Asp32938=)
c.98809G= (p.Asp32937=)
c.98242G= (p.Asp32748=)
c.95584G= (p.Asp31862=)
c.95503G= (p.Asp31835=)
c.77266G= (p.Asp25756=)
c.67120G= (p.Asp22374=)
2g.178532244C>GCA349411887TTN,TTN-AS1c.96667G>C (p.Asp32223His)
c.77752G>C (p.Asp25918His)
c.77551G>C (p.Asp25851His)
c.77176G>C (p.Asp25726His)
c.104371G>C (p.Asp34791His)
c.99448G>C (p.Asp33150His)
n.446+8608C>G
n.220-3488C>G
c.103468G>C (p.Asp34490His)
c.77362G>C (p.Asp25788His)
c.77221G>C (p.Asp25741His)
c.103264G>C (p.Asp34422His)
c.98662G>C (p.Asp32888His)
c.98659G>C (p.Asp32887His)
c.95701G>C (p.Asp31901His)
c.77317G>C (p.Asp25773His)
c.98812G>C (p.Asp32938His)
c.98809G>C (p.Asp32937His)
c.98242G>C (p.Asp32748His)
c.95584G>C (p.Asp31862His)
c.95503G>C (p.Asp31835His)
c.77266G>C (p.Asp25756His)
c.67120G>C (p.Asp22374His)
2g.178532244C>TCA349411886TTN,TTN-AS1c.96667G>A (p.Asp32223Asn)
c.77752G>A (p.Asp25918Asn)
c.77551G>A (p.Asp25851Asn)
c.77176G>A (p.Asp25726Asn)
c.104371G>A (p.Asp34791Asn)
c.99448G>A (p.Asp33150Asn)
n.446+8608C>T
n.220-3488C>T
c.103468G>A (p.Asp34490Asn)
c.77362G>A (p.Asp25788Asn)
c.77221G>A (p.Asp25741Asn)
c.103264G>A (p.Asp34422Asn)
c.98662G>A (p.Asp32888Asn)
c.98659G>A (p.Asp32887Asn)
c.95701G>A (p.Asp31901Asn)
c.77317G>A (p.Asp25773Asn)
c.98812G>A (p.Asp32938Asn)
c.98809G>A (p.Asp32937Asn)
c.98242G>A (p.Asp32748Asn)
c.95584G>A (p.Asp31862Asn)
c.95503G>A (p.Asp31835Asn)
c.77266G>A (p.Asp25756Asn)
c.67120G>A (p.Asp22374Asn)
2g.178532245A>CCA430235948TTN,TTN-AS1c.96666T>G (p.Leu32222=)
c.77751T>G (p.Leu25917=)
c.77550T>G (p.Leu25850=)
c.77175T>G (p.Leu25725=)
c.104370T>G (p.Leu34790=)
c.99447T>G (p.Leu33149=)
n.446+8609A>C
n.220-3487A>C
c.103467T>G (p.Leu34489=)
c.77361T>G (p.Leu25787=)
c.77220T>G (p.Leu25740=)
c.103263T>G (p.Leu34421=)
c.98661T>G (p.Leu32887=)
c.98658T>G (p.Leu32886=)
c.95700T>G (p.Leu31900=)
c.77316T>G (p.Leu25772=)
c.98811T>G (p.Leu32937=)
c.98808T>G (p.Leu32936=)
c.98241T>G (p.Leu32747=)
c.95583T>G (p.Leu31861=)
c.95502T>G (p.Leu31834=)
c.77265T>G (p.Leu25755=)
c.67119T>G (p.Leu22373=)
2g.178532245A>GCA430235949TTN,TTN-AS1c.96666T>C (p.Leu32222=)
c.77751T>C (p.Leu25917=)
c.77550T>C (p.Leu25850=)
c.77175T>C (p.Leu25725=)
c.104370T>C (p.Leu34790=)
c.99447T>C (p.Leu33149=)
n.446+8609A>G
n.220-3487A>G
c.103467T>C (p.Leu34489=)
c.77361T>C (p.Leu25787=)
c.77220T>C (p.Leu25740=)
c.103263T>C (p.Leu34421=)
c.98661T>C (p.Leu32887=)
c.98658T>C (p.Leu32886=)
c.95700T>C (p.Leu31900=)
c.77316T>C (p.Leu25772=)
c.98811T>C (p.Leu32937=)
c.98808T>C (p.Leu32936=)
c.98241T>C (p.Leu32747=)
c.95583T>C (p.Leu31861=)
c.95502T>C (p.Leu31834=)
c.77265T>C (p.Leu25755=)
c.67119T>C (p.Leu22373=)
2g.178532245A>TCA430235950TTN,TTN-AS1c.96666T>A (p.Leu32222=)
c.77751T>A (p.Leu25917=)
c.77550T>A (p.Leu25850=)
c.77175T>A (p.Leu25725=)
c.104370T>A (p.Leu34790=)
c.99447T>A (p.Leu33149=)
n.446+8609A>T
n.220-3487A>T
c.103467T>A (p.Leu34489=)
c.77361T>A (p.Leu25787=)
c.77220T>A (p.Leu25740=)
c.103263T>A (p.Leu34421=)
c.98661T>A (p.Leu32887=)
c.98658T>A (p.Leu32886=)
c.95700T>A (p.Leu31900=)
c.77316T>A (p.Leu25772=)
c.98811T>A (p.Leu32937=)
c.98808T>A (p.Leu32936=)
c.98241T>A (p.Leu32747=)
c.95583T>A (p.Leu31861=)
c.95502T>A (p.Leu31834=)
c.77265T>A (p.Leu25755=)
c.67119T>A (p.Leu22373=)

Number of alleles fetched