TTN | Mutation | In-Frame | ENST00000342992.6 |
g.179422685_179422687del
|
c.79690_79692del
|
p.Ile26564del
|
damaging
| JHH4 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179440780A>T
|
c.65156T>A
|
p.Leu21719His
|
probably damaging
| HepaRG |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179411970G>T
|
c.89359C>A
|
p.Arg29787Ser
|
probably damaging
| B1 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179425012C>T
|
c.80924G>A
|
p.Arg26975Gln
|
probably damaging
| B1 |
TTN | Mutation | Missense | ENST00000342992.6 |
g.179641393G>A
|
c.5198C>T
|
p.Thr1733Met
|
probably damaging
| HCC.3 |
TTN | Mutation | Missense | ENST00000342175.6 |
g.179664397G>T
|
c.731C>A
|
p.Ala244Asp
|
benign
| HCC.1.1 |
TTN | Mutation | Missense | ENST00000342992.6 |
g.179633630A>G
|
c.8933T>C
|
p.Ile2978Thr
|
probably damaging
| SNU423 |
TTN | Mutation | Missense | ENST00000342175.6 |
g.179664556T>A
|
c.665A>T
|
p.Glu222Val
|
probably damaging
| SNU423 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179404384A>G
|
c.93485T>C
|
p.Leu31162Pro
|
probably damaging
| SNU449 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179434567T>C
|
c.71369A>G
|
p.Tyr23790Cys
|
probably damaging
| SNU475 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179510748G>C
|
c.35384C>G
|
p.Pro11795Arg
|
probably damaging
| SNU475 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179547988T>A
|
c.31886A>T
|
p.Glu10629Val
|
benign
| HLE |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179438056C>T
|
c.67880G>A
|
p.Arg22627His
|
probably damaging
| Huh6 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179457564T>C
|
c.54359A>G
|
p.Asn18120Ser
|
probably damaging
| Huh6 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179546396G>T
|
c.32213C>A
|
p.Pro10738Gln
|
possibly damaging
| Huh6 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179440595C>G
|
c.65341G>C
|
p.Gly21781Arg
|
probably damaging
| Li7 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179592543C>A
|
c.18811G>T
|
p.Asp6271Tyr
|
probably damaging
| Li7 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179486343T>C
|
c.40285A>G
|
p.Ile13429Val
|
benign
| Huh1 |
TTN | Mutation | Missense | ENST00000360870.5 |
g.179615486C>T
|
c.11641G>A
|
p.Glu3881Lys
|
benign
| Huh1 |
TTN | Mutation | Missense | ENST00000342992.6 |
g.179635205C>T
|
c.8314G>A
|
p.Val2772Met
|
benign
| JHH1 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179479255T>C
|
c.44063A>G
|
p.Tyr14688Cys
|
probably damaging
| JHH2 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179446726T>C
|
c.61447A>G
|
p.Thr20483Ala
|
benign
| JHH4 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179480434G>A
|
c.43471C>T
|
p.Arg14491Cys
|
benign
| JHH4 |
TTN | Mutation | Missense | ENST00000342992.6 |
g.179632780T>C
|
c.9266A>G
|
p.Gln3089Arg
|
benign
| JHH4 |
TTN | Mutation | Missense | ENST00000591111.1 |
g.179430744C>A
|
c.75192G>T
|
p.Glu25064Asp
|
benign
| SNU354 |