Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178607446T>ACA349565804TTN,TTN-AS1c.45538A>T (p.Asn15180Tyr)
c.26623A>T (p.Asn8875Tyr)
c.26422A>T (p.Asn8808Tyr)
c.26047A>T (p.Asn8683Tyr)
c.53242A>T (p.Asn17748Tyr)
c.48319A>T (p.Asn16107Tyr)
n.683-721T>A
c.52339A>T (p.Asn17447Tyr)
c.26233A>T (p.Asn8745Tyr)
c.26092A>T (p.Asn8698Tyr)
c.52135A>T (p.Asn17379Tyr)
c.47533A>T (p.Asn15845Tyr)
c.47530A>T (p.Asn15844Tyr)
c.44572A>T (p.Asn14858Tyr)
c.26188A>T (p.Asn8730Tyr)
c.47683A>T (p.Asn15895Tyr)
c.47680A>T (p.Asn15894Tyr)
c.47113A>T (p.Asn15705Tyr)
c.44455A>T (p.Asn14819Tyr)
c.44374A>T (p.Asn14792Tyr)
c.26137A>T (p.Asn8713Tyr)
c.15991A>T (p.Asn5331Tyr)
2g.178607446T>CCA349565795TTN,TTN-AS1c.45538A>G (p.Asn15180Asp)
c.26623A>G (p.Asn8875Asp)
c.26422A>G (p.Asn8808Asp)
c.26047A>G (p.Asn8683Asp)
c.53242A>G (p.Asn17748Asp)
c.48319A>G (p.Asn16107Asp)
n.683-721T>C
c.52339A>G (p.Asn17447Asp)
c.26233A>G (p.Asn8745Asp)
c.26092A>G (p.Asn8698Asp)
c.52135A>G (p.Asn17379Asp)
c.47533A>G (p.Asn15845Asp)
c.47530A>G (p.Asn15844Asp)
c.44572A>G (p.Asn14858Asp)
c.26188A>G (p.Asn8730Asp)
c.47683A>G (p.Asn15895Asp)
c.47680A>G (p.Asn15894Asp)
c.47113A>G (p.Asn15705Asp)
c.44455A>G (p.Asn14819Asp)
c.44374A>G (p.Asn14792Asp)
c.26137A>G (p.Asn8713Asp)
c.15991A>G (p.Asn5331Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178607446T>GCA349565793TTN,TTN-AS1c.45538A>C (p.Asn15180His)
c.26623A>C (p.Asn8875His)
c.26422A>C (p.Asn8808His)
c.26047A>C (p.Asn8683His)
c.53242A>C (p.Asn17748His)
c.48319A>C (p.Asn16107His)
n.683-721T>G
c.52339A>C (p.Asn17447His)
c.26233A>C (p.Asn8745His)
c.26092A>C (p.Asn8698His)
c.52135A>C (p.Asn17379His)
c.47533A>C (p.Asn15845His)
c.47530A>C (p.Asn15844His)
c.44572A>C (p.Asn14858His)
c.26188A>C (p.Asn8730His)
c.47683A>C (p.Asn15895His)
c.47680A>C (p.Asn15894His)
c.47113A>C (p.Asn15705His)
c.44455A>C (p.Asn14819His)
c.44374A>C (p.Asn14792His)
c.26137A>C (p.Asn8713His)
c.15991A>C (p.Asn5331His)
2g.178607446T=CA1310546550TTN,TTN-AS1c.45538A= (p.Asn15180=)
c.26623A= (p.Asn8875=)
c.26422A= (p.Asn8808=)
c.26047A= (p.Asn8683=)
c.53242A= (p.Asn17748=)
c.48319A= (p.Asn16107=)
n.683-721T=
c.52339A= (p.Asn17447=)
c.26233A= (p.Asn8745=)
c.26092A= (p.Asn8698=)
c.52135A= (p.Asn17379=)
c.47533A= (p.Asn15845=)
c.47530A= (p.Asn15844=)
c.44572A= (p.Asn14858=)
c.26188A= (p.Asn8730=)
c.47683A= (p.Asn15895=)
c.47680A= (p.Asn15894=)
c.47113A= (p.Asn15705=)
c.44455A= (p.Asn14819=)
c.44374A= (p.Asn14792=)
c.26137A= (p.Asn8713=)
c.15991A= (p.Asn5331=)
2g.178607447T>ACA430270801TTN,TTN-AS1c.45537A>T (p.Thr15179=)
c.26622A>T (p.Thr8874=)
c.26421A>T (p.Thr8807=)
c.26046A>T (p.Thr8682=)
c.53241A>T (p.Thr17747=)
c.48318A>T (p.Thr16106=)
n.683-720T>A
c.52338A>T (p.Thr17446=)
c.26232A>T (p.Thr8744=)
c.26091A>T (p.Thr8697=)
c.52134A>T (p.Thr17378=)
c.47532A>T (p.Thr15844=)
c.47529A>T (p.Thr15843=)
c.44571A>T (p.Thr14857=)
c.26187A>T (p.Thr8729=)
c.47682A>T (p.Thr15894=)
c.47679A>T (p.Thr15893=)
c.47112A>T (p.Thr15704=)
c.44454A>T (p.Thr14818=)
c.44373A>T (p.Thr14791=)
c.26136A>T (p.Thr8712=)
c.15990A>T (p.Thr5330=)
2g.178607447T>CCA430270802TTN,TTN-AS1c.45537A>G (p.Thr15179=)
c.26622A>G (p.Thr8874=)
c.26421A>G (p.Thr8807=)
c.26046A>G (p.Thr8682=)
c.53241A>G (p.Thr17747=)
c.48318A>G (p.Thr16106=)
n.683-720T>C
c.52338A>G (p.Thr17446=)
c.26232A>G (p.Thr8744=)
c.26091A>G (p.Thr8697=)
c.52134A>G (p.Thr17378=)
c.47532A>G (p.Thr15844=)
c.47529A>G (p.Thr15843=)
c.44571A>G (p.Thr14857=)
c.26187A>G (p.Thr8729=)
c.47682A>G (p.Thr15894=)
c.47679A>G (p.Thr15893=)
c.47112A>G (p.Thr15704=)
c.44454A>G (p.Thr14818=)
c.44373A>G (p.Thr14791=)
c.26136A>G (p.Thr8712=)
c.15990A>G (p.Thr5330=)
2g.178607447T>GCA430270803TTN,TTN-AS1c.45537A>C (p.Thr15179=)
c.26622A>C (p.Thr8874=)
c.26421A>C (p.Thr8807=)
c.26046A>C (p.Thr8682=)
c.53241A>C (p.Thr17747=)
c.48318A>C (p.Thr16106=)
n.683-720T>G
c.52338A>C (p.Thr17446=)
c.26232A>C (p.Thr8744=)
c.26091A>C (p.Thr8697=)
c.52134A>C (p.Thr17378=)
c.47532A>C (p.Thr15844=)
c.47529A>C (p.Thr15843=)
c.44571A>C (p.Thr14857=)
c.26187A>C (p.Thr8729=)
c.47682A>C (p.Thr15894=)
c.47679A>C (p.Thr15893=)
c.47112A>C (p.Thr15704=)
c.44454A>C (p.Thr14818=)
c.44373A>C (p.Thr14791=)
c.26136A>C (p.Thr8712=)
c.15990A>C (p.Thr5330=)
2g.178607448G>ACA349565808TTN,TTN-AS1c.45536C>T (p.Thr15179Ile)
c.26621C>T (p.Thr8874Ile)
c.26420C>T (p.Thr8807Ile)
c.26045C>T (p.Thr8682Ile)
c.53240C>T (p.Thr17747Ile)
c.48317C>T (p.Thr16106Ile)
n.683-719G>A
c.52337C>T (p.Thr17446Ile)
c.26231C>T (p.Thr8744Ile)
c.26090C>T (p.Thr8697Ile)
c.52133C>T (p.Thr17378Ile)
c.47531C>T (p.Thr15844Ile)
c.47528C>T (p.Thr15843Ile)
c.44570C>T (p.Thr14857Ile)
c.26186C>T (p.Thr8729Ile)
c.47681C>T (p.Thr15894Ile)
c.47678C>T (p.Thr15893Ile)
c.47111C>T (p.Thr15704Ile)
c.44453C>T (p.Thr14818Ile)
c.44372C>T (p.Thr14791Ile)
c.26135C>T (p.Thr8712Ile)
c.15989C>T (p.Thr5330Ile)
2g.178607448G>CCA349565812TTN,TTN-AS1c.45536C>G (p.Thr15179Arg)
c.26621C>G (p.Thr8874Arg)
c.26420C>G (p.Thr8807Arg)
c.26045C>G (p.Thr8682Arg)
c.53240C>G (p.Thr17747Arg)
c.48317C>G (p.Thr16106Arg)
n.683-719G>C
c.52337C>G (p.Thr17446Arg)
c.26231C>G (p.Thr8744Arg)
c.26090C>G (p.Thr8697Arg)
c.52133C>G (p.Thr17378Arg)
c.47531C>G (p.Thr15844Arg)
c.47528C>G (p.Thr15843Arg)
c.44570C>G (p.Thr14857Arg)
c.26186C>G (p.Thr8729Arg)
c.47681C>G (p.Thr15894Arg)
c.47678C>G (p.Thr15893Arg)
c.47111C>G (p.Thr15704Arg)
c.44453C>G (p.Thr14818Arg)
c.44372C>G (p.Thr14791Arg)
c.26135C>G (p.Thr8712Arg)
c.15989C>G (p.Thr5330Arg)
2g.178607448G>TCA349565810TTN,TTN-AS1c.45536C>A (p.Thr15179Lys)
c.26621C>A (p.Thr8874Lys)
c.26420C>A (p.Thr8807Lys)
c.26045C>A (p.Thr8682Lys)
c.53240C>A (p.Thr17747Lys)
c.48317C>A (p.Thr16106Lys)
n.683-719G>T
c.52337C>A (p.Thr17446Lys)
c.26231C>A (p.Thr8744Lys)
c.26090C>A (p.Thr8697Lys)
c.52133C>A (p.Thr17378Lys)
c.47531C>A (p.Thr15844Lys)
c.47528C>A (p.Thr15843Lys)
c.44570C>A (p.Thr14857Lys)
c.26186C>A (p.Thr8729Lys)
c.47681C>A (p.Thr15894Lys)
c.47678C>A (p.Thr15893Lys)
c.47111C>A (p.Thr15704Lys)
c.44453C>A (p.Thr14818Lys)
c.44372C>A (p.Thr14791Lys)
c.26135C>A (p.Thr8712Lys)
c.15989C>A (p.Thr5330Lys)
2g.178607449T>ACA349565816TTN,TTN-AS1c.45535A>T (p.Thr15179Ser)
c.26620A>T (p.Thr8874Ser)
c.26419A>T (p.Thr8807Ser)
c.26044A>T (p.Thr8682Ser)
c.53239A>T (p.Thr17747Ser)
c.48316A>T (p.Thr16106Ser)
n.683-718T>A
c.52336A>T (p.Thr17446Ser)
c.26230A>T (p.Thr8744Ser)
c.26089A>T (p.Thr8697Ser)
c.52132A>T (p.Thr17378Ser)
c.47530A>T (p.Thr15844Ser)
c.47527A>T (p.Thr15843Ser)
c.44569A>T (p.Thr14857Ser)
c.26185A>T (p.Thr8729Ser)
c.47680A>T (p.Thr15894Ser)
c.47677A>T (p.Thr15893Ser)
c.47110A>T (p.Thr15704Ser)
c.44452A>T (p.Thr14818Ser)
c.44371A>T (p.Thr14791Ser)
c.26134A>T (p.Thr8712Ser)
c.15988A>T (p.Thr5330Ser)
2g.178607449T>CCA349565819TTN,TTN-AS1c.45535A>G (p.Thr15179Ala)
c.26620A>G (p.Thr8874Ala)
c.26419A>G (p.Thr8807Ala)
c.26044A>G (p.Thr8682Ala)
c.53239A>G (p.Thr17747Ala)
c.48316A>G (p.Thr16106Ala)
n.683-718T>C
c.52336A>G (p.Thr17446Ala)
c.26230A>G (p.Thr8744Ala)
c.26089A>G (p.Thr8697Ala)
c.52132A>G (p.Thr17378Ala)
c.47530A>G (p.Thr15844Ala)
c.47527A>G (p.Thr15843Ala)
c.44569A>G (p.Thr14857Ala)
c.26185A>G (p.Thr8729Ala)
c.47680A>G (p.Thr15894Ala)
c.47677A>G (p.Thr15893Ala)
c.47110A>G (p.Thr15704Ala)
c.44452A>G (p.Thr14818Ala)
c.44371A>G (p.Thr14791Ala)
c.26134A>G (p.Thr8712Ala)
c.15988A>G (p.Thr5330Ala)
 dbSNP
2g.178607449T>GCA349565822TTN,TTN-AS1c.45535A>C (p.Thr15179Pro)
c.26620A>C (p.Thr8874Pro)
c.26419A>C (p.Thr8807Pro)
c.26044A>C (p.Thr8682Pro)
c.53239A>C (p.Thr17747Pro)
c.48316A>C (p.Thr16106Pro)
n.683-718T>G
c.52336A>C (p.Thr17446Pro)
c.26230A>C (p.Thr8744Pro)
c.26089A>C (p.Thr8697Pro)
c.52132A>C (p.Thr17378Pro)
c.47530A>C (p.Thr15844Pro)
c.47527A>C (p.Thr15843Pro)
c.44569A>C (p.Thr14857Pro)
c.26185A>C (p.Thr8729Pro)
c.47680A>C (p.Thr15894Pro)
c.47677A>C (p.Thr15893Pro)
c.47110A>C (p.Thr15704Pro)
c.44452A>C (p.Thr14818Pro)
c.44371A>C (p.Thr14791Pro)
c.26134A>C (p.Thr8712Pro)
c.15988A>C (p.Thr5330Pro)
2g.178607449T=CA1310546554TTN,TTN-AS1c.45535A= (p.Thr15179=)
c.26620A= (p.Thr8874=)
c.26419A= (p.Thr8807=)
c.26044A= (p.Thr8682=)
c.53239A= (p.Thr17747=)
c.48316A= (p.Thr16106=)
n.683-718T=
c.52336A= (p.Thr17446=)
c.26230A= (p.Thr8744=)
c.26089A= (p.Thr8697=)
c.52132A= (p.Thr17378=)
c.47530A= (p.Thr15844=)
c.47527A= (p.Thr15843=)
c.44569A= (p.Thr14857=)
c.26185A= (p.Thr8729=)
c.47680A= (p.Thr15894=)
c.47677A= (p.Thr15893=)
c.47110A= (p.Thr15704=)
c.44452A= (p.Thr14818=)
c.44371A= (p.Thr14791=)
c.26134A= (p.Thr8712=)
c.15988A= (p.Thr5330=)
2g.178607450A=CA1310546556TTN,TTN-AS1c.45534T= (p.Ala15178=)
c.26619T= (p.Ala8873=)
c.26418T= (p.Ala8806=)
c.26043T= (p.Ala8681=)
c.53238T= (p.Ala17746=)
c.48315T= (p.Ala16105=)
n.683-717A=
c.52335T= (p.Ala17445=)
c.26229T= (p.Ala8743=)
c.26088T= (p.Ala8696=)
c.52131T= (p.Ala17377=)
c.47529T= (p.Ala15843=)
c.47526T= (p.Ala15842=)
c.44568T= (p.Ala14856=)
c.26184T= (p.Ala8728=)
c.47679T= (p.Ala15893=)
c.47676T= (p.Ala15892=)
c.47109T= (p.Ala15703=)
c.44451T= (p.Ala14817=)
c.44370T= (p.Ala14790=)
c.26133T= (p.Ala8711=)
c.15987T= (p.Ala5329=)
2g.178607450A>CCA430270814TTN,TTN-AS1c.45534T>G (p.Ala15178=)
c.26619T>G (p.Ala8873=)
c.26418T>G (p.Ala8806=)
c.26043T>G (p.Ala8681=)
c.53238T>G (p.Ala17746=)
c.48315T>G (p.Ala16105=)
n.683-717A>C
c.52335T>G (p.Ala17445=)
c.26229T>G (p.Ala8743=)
c.26088T>G (p.Ala8696=)
c.52131T>G (p.Ala17377=)
c.47529T>G (p.Ala15843=)
c.47526T>G (p.Ala15842=)
c.44568T>G (p.Ala14856=)
c.26184T>G (p.Ala8728=)
c.47679T>G (p.Ala15893=)
c.47676T>G (p.Ala15892=)
c.47109T>G (p.Ala15703=)
c.44451T>G (p.Ala14817=)
c.44370T>G (p.Ala14790=)
c.26133T>G (p.Ala8711=)
c.15987T>G (p.Ala5329=)
2g.178607450A>GCA430270818TTN,TTN-AS1c.45534T>C (p.Ala15178=)
c.26619T>C (p.Ala8873=)
c.26418T>C (p.Ala8806=)
c.26043T>C (p.Ala8681=)
c.53238T>C (p.Ala17746=)
c.48315T>C (p.Ala16105=)
n.683-717A>G
c.52335T>C (p.Ala17445=)
c.26229T>C (p.Ala8743=)
c.26088T>C (p.Ala8696=)
c.52131T>C (p.Ala17377=)
c.47529T>C (p.Ala15843=)
c.47526T>C (p.Ala15842=)
c.44568T>C (p.Ala14856=)
c.26184T>C (p.Ala8728=)
c.47679T>C (p.Ala15893=)
c.47676T>C (p.Ala15892=)
c.47109T>C (p.Ala15703=)
c.44451T>C (p.Ala14817=)
c.44370T>C (p.Ala14790=)
c.26133T>C (p.Ala8711=)
c.15987T>C (p.Ala5329=)
 dbSNP gnomAD v4
2g.178607450A>TCA1993836TTN,TTN-AS1c.45534T>A (p.Ala15178=)
c.26619T>A (p.Ala8873=)
c.26418T>A (p.Ala8806=)
c.26043T>A (p.Ala8681=)
c.53238T>A (p.Ala17746=)
c.48315T>A (p.Ala16105=)
n.683-717A>T
c.52335T>A (p.Ala17445=)
c.26229T>A (p.Ala8743=)
c.26088T>A (p.Ala8696=)
c.52131T>A (p.Ala17377=)
c.47529T>A (p.Ala15843=)
c.47526T>A (p.Ala15842=)
c.44568T>A (p.Ala14856=)
c.26184T>A (p.Ala8728=)
c.47679T>A (p.Ala15893=)
c.47676T>A (p.Ala15892=)
c.47109T>A (p.Ala15703=)
c.44451T>A (p.Ala14817=)
c.44370T>A (p.Ala14790=)
c.26133T>A (p.Ala8711=)
c.15987T>A (p.Ala5329=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178607451G>ACA349565828TTN,TTN-AS1c.45533C>T (p.Ala15178Val)
c.26618C>T (p.Ala8873Val)
c.26417C>T (p.Ala8806Val)
c.26042C>T (p.Ala8681Val)
c.53237C>T (p.Ala17746Val)
c.48314C>T (p.Ala16105Val)
n.683-716G>A
c.52334C>T (p.Ala17445Val)
c.26228C>T (p.Ala8743Val)
c.26087C>T (p.Ala8696Val)
c.52130C>T (p.Ala17377Val)
c.47528C>T (p.Ala15843Val)
c.47525C>T (p.Ala15842Val)
c.44567C>T (p.Ala14856Val)
c.26183C>T (p.Ala8728Val)
c.47678C>T (p.Ala15893Val)
c.47675C>T (p.Ala15892Val)
c.47108C>T (p.Ala15703Val)
c.44450C>T (p.Ala14817Val)
c.44369C>T (p.Ala14790Val)
c.26132C>T (p.Ala8711Val)
c.15986C>T (p.Ala5329Val)
2g.178607451G>CCA349565831TTN,TTN-AS1c.45533C>G (p.Ala15178Gly)
c.26618C>G (p.Ala8873Gly)
c.26417C>G (p.Ala8806Gly)
c.26042C>G (p.Ala8681Gly)
c.53237C>G (p.Ala17746Gly)
c.48314C>G (p.Ala16105Gly)
n.683-716G>C
c.52334C>G (p.Ala17445Gly)
c.26228C>G (p.Ala8743Gly)
c.26087C>G (p.Ala8696Gly)
c.52130C>G (p.Ala17377Gly)
c.47528C>G (p.Ala15843Gly)
c.47525C>G (p.Ala15842Gly)
c.44567C>G (p.Ala14856Gly)
c.26183C>G (p.Ala8728Gly)
c.47678C>G (p.Ala15893Gly)
c.47675C>G (p.Ala15892Gly)
c.47108C>G (p.Ala15703Gly)
c.44450C>G (p.Ala14817Gly)
c.44369C>G (p.Ala14790Gly)
c.26132C>G (p.Ala8711Gly)
c.15986C>G (p.Ala5329Gly)
2g.178607451G>TCA349565833TTN,TTN-AS1c.45533C>A (p.Ala15178Asp)
c.26618C>A (p.Ala8873Asp)
c.26417C>A (p.Ala8806Asp)
c.26042C>A (p.Ala8681Asp)
c.53237C>A (p.Ala17746Asp)
c.48314C>A (p.Ala16105Asp)
n.683-716G>T
c.52334C>A (p.Ala17445Asp)
c.26228C>A (p.Ala8743Asp)
c.26087C>A (p.Ala8696Asp)
c.52130C>A (p.Ala17377Asp)
c.47528C>A (p.Ala15843Asp)
c.47525C>A (p.Ala15842Asp)
c.44567C>A (p.Ala14856Asp)
c.26183C>A (p.Ala8728Asp)
c.47678C>A (p.Ala15893Asp)
c.47675C>A (p.Ala15892Asp)
c.47108C>A (p.Ala15703Asp)
c.44450C>A (p.Ala14817Asp)
c.44369C>A (p.Ala14790Asp)
c.26132C>A (p.Ala8711Asp)
c.15986C>A (p.Ala5329Asp)
2g.178607452C>ACA349565837TTN,TTN-AS1c.45532G>T (p.Ala15178Ser)
c.26617G>T (p.Ala8873Ser)
c.26416G>T (p.Ala8806Ser)
c.26041G>T (p.Ala8681Ser)
c.53236G>T (p.Ala17746Ser)
c.48313G>T (p.Ala16105Ser)
n.683-715C>A
c.52333G>T (p.Ala17445Ser)
c.26227G>T (p.Ala8743Ser)
c.26086G>T (p.Ala8696Ser)
c.52129G>T (p.Ala17377Ser)
c.47527G>T (p.Ala15843Ser)
c.47524G>T (p.Ala15842Ser)
c.44566G>T (p.Ala14856Ser)
c.26182G>T (p.Ala8728Ser)
c.47677G>T (p.Ala15893Ser)
c.47674G>T (p.Ala15892Ser)
c.47107G>T (p.Ala15703Ser)
c.44449G>T (p.Ala14817Ser)
c.44368G>T (p.Ala14790Ser)
c.26131G>T (p.Ala8711Ser)
c.15985G>T (p.Ala5329Ser)
2g.178607452C=CA1310546558TTN,TTN-AS1c.45532G= (p.Ala15178=)
c.26617G= (p.Ala8873=)
c.26416G= (p.Ala8806=)
c.26041G= (p.Ala8681=)
c.53236G= (p.Ala17746=)
c.48313G= (p.Ala16105=)
n.683-715C=
c.52333G= (p.Ala17445=)
c.26227G= (p.Ala8743=)
c.26086G= (p.Ala8696=)
c.52129G= (p.Ala17377=)
c.47527G= (p.Ala15843=)
c.47524G= (p.Ala15842=)
c.44566G= (p.Ala14856=)
c.26182G= (p.Ala8728=)
c.47677G= (p.Ala15893=)
c.47674G= (p.Ala15892=)
c.47107G= (p.Ala15703=)
c.44449G= (p.Ala14817=)
c.44368G= (p.Ala14790=)
c.26131G= (p.Ala8711=)
c.15985G= (p.Ala5329=)
2g.178607452C>GCA349565839TTN,TTN-AS1c.45532G>C (p.Ala15178Pro)
c.26617G>C (p.Ala8873Pro)
c.26416G>C (p.Ala8806Pro)
c.26041G>C (p.Ala8681Pro)
c.53236G>C (p.Ala17746Pro)
c.48313G>C (p.Ala16105Pro)
n.683-715C>G
c.52333G>C (p.Ala17445Pro)
c.26227G>C (p.Ala8743Pro)
c.26086G>C (p.Ala8696Pro)
c.52129G>C (p.Ala17377Pro)
c.47527G>C (p.Ala15843Pro)
c.47524G>C (p.Ala15842Pro)
c.44566G>C (p.Ala14856Pro)
c.26182G>C (p.Ala8728Pro)
c.47677G>C (p.Ala15893Pro)
c.47674G>C (p.Ala15892Pro)
c.47107G>C (p.Ala15703Pro)
c.44449G>C (p.Ala14817Pro)
c.44368G>C (p.Ala14790Pro)
c.26131G>C (p.Ala8711Pro)
c.15985G>C (p.Ala5329Pro)
2g.178607452C>TCA10613282TTN,TTN-AS1c.45532G>A (p.Ala15178Thr)
c.26617G>A (p.Ala8873Thr)
c.26416G>A (p.Ala8806Thr)
c.26041G>A (p.Ala8681Thr)
c.53236G>A (p.Ala17746Thr)
c.48313G>A (p.Ala16105Thr)
n.683-715C>T
c.52333G>A (p.Ala17445Thr)
c.26227G>A (p.Ala8743Thr)
c.26086G>A (p.Ala8696Thr)
c.52129G>A (p.Ala17377Thr)
c.47527G>A (p.Ala15843Thr)
c.47524G>A (p.Ala15842Thr)
c.44566G>A (p.Ala14856Thr)
c.26182G>A (p.Ala8728Thr)
c.47677G>A (p.Ala15893Thr)
c.47674G>A (p.Ala15892Thr)
c.47107G>A (p.Ala15703Thr)
c.44449G>A (p.Ala14817Thr)
c.44368G>A (p.Ala14790Thr)
c.26131G>A (p.Ala8711Thr)
c.15985G>A (p.Ala5329Thr)
 ClinVar dbSNP gnomAD v4
2g.178607453T>ACA430270832TTN,TTN-AS1c.45531A>T (p.Thr15177=)
c.26616A>T (p.Thr8872=)
c.26415A>T (p.Thr8805=)
c.26040A>T (p.Thr8680=)
c.53235A>T (p.Thr17745=)
c.48312A>T (p.Thr16104=)
n.683-714T>A
c.52332A>T (p.Thr17444=)
c.26226A>T (p.Thr8742=)
c.26085A>T (p.Thr8695=)
c.52128A>T (p.Thr17376=)
c.47526A>T (p.Thr15842=)
c.47523A>T (p.Thr15841=)
c.44565A>T (p.Thr14855=)
c.26181A>T (p.Thr8727=)
c.47676A>T (p.Thr15892=)
c.47673A>T (p.Thr15891=)
c.47106A>T (p.Thr15702=)
c.44448A>T (p.Thr14816=)
c.44367A>T (p.Thr14789=)
c.26130A>T (p.Thr8710=)
c.15984A>T (p.Thr5328=)
2g.178607453T>CCA430270833TTN,TTN-AS1c.45531A>G (p.Thr15177=)
c.26616A>G (p.Thr8872=)
c.26415A>G (p.Thr8805=)
c.26040A>G (p.Thr8680=)
c.53235A>G (p.Thr17745=)
c.48312A>G (p.Thr16104=)
n.683-714T>C
c.52332A>G (p.Thr17444=)
c.26226A>G (p.Thr8742=)
c.26085A>G (p.Thr8695=)
c.52128A>G (p.Thr17376=)
c.47526A>G (p.Thr15842=)
c.47523A>G (p.Thr15841=)
c.44565A>G (p.Thr14855=)
c.26181A>G (p.Thr8727=)
c.47676A>G (p.Thr15892=)
c.47673A>G (p.Thr15891=)
c.47106A>G (p.Thr15702=)
c.44448A>G (p.Thr14816=)
c.44367A>G (p.Thr14789=)
c.26130A>G (p.Thr8710=)
c.15984A>G (p.Thr5328=)
 gnomAD v4
2g.178607453T>GCA430270834TTN,TTN-AS1c.45531A>C (p.Thr15177=)
c.26616A>C (p.Thr8872=)
c.26415A>C (p.Thr8805=)
c.26040A>C (p.Thr8680=)
c.53235A>C (p.Thr17745=)
c.48312A>C (p.Thr16104=)
n.683-714T>G
c.52332A>C (p.Thr17444=)
c.26226A>C (p.Thr8742=)
c.26085A>C (p.Thr8695=)
c.52128A>C (p.Thr17376=)
c.47526A>C (p.Thr15842=)
c.47523A>C (p.Thr15841=)
c.44565A>C (p.Thr14855=)
c.26181A>C (p.Thr8727=)
c.47676A>C (p.Thr15892=)
c.47673A>C (p.Thr15891=)
c.47106A>C (p.Thr15702=)
c.44448A>C (p.Thr14816=)
c.44367A>C (p.Thr14789=)
c.26130A>C (p.Thr8710=)
c.15984A>C (p.Thr5328=)
2g.178607454G>ACA60981484TTN,TTN-AS1c.45530C>T (p.Thr15177Ile)
c.26615C>T (p.Thr8872Ile)
c.26414C>T (p.Thr8805Ile)
c.26039C>T (p.Thr8680Ile)
c.53234C>T (p.Thr17745Ile)
c.48311C>T (p.Thr16104Ile)
n.683-713G>A
c.52331C>T (p.Thr17444Ile)
c.26225C>T (p.Thr8742Ile)
c.26084C>T (p.Thr8695Ile)
c.52127C>T (p.Thr17376Ile)
c.47525C>T (p.Thr15842Ile)
c.47522C>T (p.Thr15841Ile)
c.44564C>T (p.Thr14855Ile)
c.26180C>T (p.Thr8727Ile)
c.47675C>T (p.Thr15892Ile)
c.47672C>T (p.Thr15891Ile)
c.47105C>T (p.Thr15702Ile)
c.44447C>T (p.Thr14816Ile)
c.44366C>T (p.Thr14789Ile)
c.26129C>T (p.Thr8710Ile)
c.15983C>T (p.Thr5328Ile)
 dbSNP gnomAD v4
2g.178607454G>CCA349565847TTN,TTN-AS1c.45530C>G (p.Thr15177Arg)
c.26615C>G (p.Thr8872Arg)
c.26414C>G (p.Thr8805Arg)
c.26039C>G (p.Thr8680Arg)
c.53234C>G (p.Thr17745Arg)
c.48311C>G (p.Thr16104Arg)
n.683-713G>C
c.52331C>G (p.Thr17444Arg)
c.26225C>G (p.Thr8742Arg)
c.26084C>G (p.Thr8695Arg)
c.52127C>G (p.Thr17376Arg)
c.47525C>G (p.Thr15842Arg)
c.47522C>G (p.Thr15841Arg)
c.44564C>G (p.Thr14855Arg)
c.26180C>G (p.Thr8727Arg)
c.47675C>G (p.Thr15892Arg)
c.47672C>G (p.Thr15891Arg)
c.47105C>G (p.Thr15702Arg)
c.44447C>G (p.Thr14816Arg)
c.44366C>G (p.Thr14789Arg)
c.26129C>G (p.Thr8710Arg)
c.15983C>G (p.Thr5328Arg)
2g.178607454G=CA1310546561TTN,TTN-AS1c.45530C= (p.Thr15177=)
c.26615C= (p.Thr8872=)
c.26414C= (p.Thr8805=)
c.26039C= (p.Thr8680=)
c.53234C= (p.Thr17745=)
c.48311C= (p.Thr16104=)
n.683-713G=
c.52331C= (p.Thr17444=)
c.26225C= (p.Thr8742=)
c.26084C= (p.Thr8695=)
c.52127C= (p.Thr17376=)
c.47525C= (p.Thr15842=)
c.47522C= (p.Thr15841=)
c.44564C= (p.Thr14855=)
c.26180C= (p.Thr8727=)
c.47675C= (p.Thr15892=)
c.47672C= (p.Thr15891=)
c.47105C= (p.Thr15702=)
c.44447C= (p.Thr14816=)
c.44366C= (p.Thr14789=)
c.26129C= (p.Thr8710=)
c.15983C= (p.Thr5328=)
2g.178607454G>TCA349565845TTN,TTN-AS1c.45530C>A (p.Thr15177Lys)
c.26615C>A (p.Thr8872Lys)
c.26414C>A (p.Thr8805Lys)
c.26039C>A (p.Thr8680Lys)
c.53234C>A (p.Thr17745Lys)
c.48311C>A (p.Thr16104Lys)
n.683-713G>T
c.52331C>A (p.Thr17444Lys)
c.26225C>A (p.Thr8742Lys)
c.26084C>A (p.Thr8695Lys)
c.52127C>A (p.Thr17376Lys)
c.47525C>A (p.Thr15842Lys)
c.47522C>A (p.Thr15841Lys)
c.44564C>A (p.Thr14855Lys)
c.26180C>A (p.Thr8727Lys)
c.47675C>A (p.Thr15892Lys)
c.47672C>A (p.Thr15891Lys)
c.47105C>A (p.Thr15702Lys)
c.44447C>A (p.Thr14816Lys)
c.44366C>A (p.Thr14789Lys)
c.26129C>A (p.Thr8710Lys)
c.15983C>A (p.Thr5328Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178607455T>ACA349565853TTN,TTN-AS1c.45529A>T (p.Thr15177Ser)
c.26614A>T (p.Thr8872Ser)
c.26413A>T (p.Thr8805Ser)
c.26038A>T (p.Thr8680Ser)
c.53233A>T (p.Thr17745Ser)
c.48310A>T (p.Thr16104Ser)
n.683-712T>A
c.52330A>T (p.Thr17444Ser)
c.26224A>T (p.Thr8742Ser)
c.26083A>T (p.Thr8695Ser)
c.52126A>T (p.Thr17376Ser)
c.47524A>T (p.Thr15842Ser)
c.47521A>T (p.Thr15841Ser)
c.44563A>T (p.Thr14855Ser)
c.26179A>T (p.Thr8727Ser)
c.47674A>T (p.Thr15892Ser)
c.47671A>T (p.Thr15891Ser)
c.47104A>T (p.Thr15702Ser)
c.44446A>T (p.Thr14816Ser)
c.44365A>T (p.Thr14789Ser)
c.26128A>T (p.Thr8710Ser)
c.15982A>T (p.Thr5328Ser)
2g.178607455T>CCA349565856TTN,TTN-AS1c.45529A>G (p.Thr15177Ala)
c.26614A>G (p.Thr8872Ala)
c.26413A>G (p.Thr8805Ala)
c.26038A>G (p.Thr8680Ala)
c.53233A>G (p.Thr17745Ala)
c.48310A>G (p.Thr16104Ala)
n.683-712T>C
c.52330A>G (p.Thr17444Ala)
c.26224A>G (p.Thr8742Ala)
c.26083A>G (p.Thr8695Ala)
c.52126A>G (p.Thr17376Ala)
c.47524A>G (p.Thr15842Ala)
c.47521A>G (p.Thr15841Ala)
c.44563A>G (p.Thr14855Ala)
c.26179A>G (p.Thr8727Ala)
c.47674A>G (p.Thr15892Ala)
c.47671A>G (p.Thr15891Ala)
c.47104A>G (p.Thr15702Ala)
c.44446A>G (p.Thr14816Ala)
c.44365A>G (p.Thr14789Ala)
c.26128A>G (p.Thr8710Ala)
c.15982A>G (p.Thr5328Ala)
2g.178607455T>GCA349565857TTN,TTN-AS1c.45529A>C (p.Thr15177Pro)
c.26614A>C (p.Thr8872Pro)
c.26413A>C (p.Thr8805Pro)
c.26038A>C (p.Thr8680Pro)
c.53233A>C (p.Thr17745Pro)
c.48310A>C (p.Thr16104Pro)
n.683-712T>G
c.52330A>C (p.Thr17444Pro)
c.26224A>C (p.Thr8742Pro)
c.26083A>C (p.Thr8695Pro)
c.52126A>C (p.Thr17376Pro)
c.47524A>C (p.Thr15842Pro)
c.47521A>C (p.Thr15841Pro)
c.44563A>C (p.Thr14855Pro)
c.26179A>C (p.Thr8727Pro)
c.47674A>C (p.Thr15892Pro)
c.47671A>C (p.Thr15891Pro)
c.47104A>C (p.Thr15702Pro)
c.44446A>C (p.Thr14816Pro)
c.44365A>C (p.Thr14789Pro)
c.26128A>C (p.Thr8710Pro)
c.15982A>C (p.Thr5328Pro)
2g.178607456A>CCA349565862TTN,TTN-AS1c.45528T>G (p.Ile15176Met)
c.26613T>G (p.Ile8871Met)
c.26412T>G (p.Ile8804Met)
c.26037T>G (p.Ile8679Met)
c.53232T>G (p.Ile17744Met)
c.48309T>G (p.Ile16103Met)
n.683-711A>C
c.52329T>G (p.Ile17443Met)
c.26223T>G (p.Ile8741Met)
c.26082T>G (p.Ile8694Met)
c.52125T>G (p.Ile17375Met)
c.47523T>G (p.Ile15841Met)
c.47520T>G (p.Ile15840Met)
c.44562T>G (p.Ile14854Met)
c.26178T>G (p.Ile8726Met)
c.47673T>G (p.Ile15891Met)
c.47670T>G (p.Ile15890Met)
c.47103T>G (p.Ile15701Met)
c.44445T>G (p.Ile14815Met)
c.44364T>G (p.Ile14788Met)
c.26127T>G (p.Ile8709Met)
c.15981T>G (p.Ile5327Met)
2g.178607456A>GCA430270842TTN,TTN-AS1c.45528T>C (p.Ile15176=)
c.26613T>C (p.Ile8871=)
c.26412T>C (p.Ile8804=)
c.26037T>C (p.Ile8679=)
c.53232T>C (p.Ile17744=)
c.48309T>C (p.Ile16103=)
n.683-711A>G
c.52329T>C (p.Ile17443=)
c.26223T>C (p.Ile8741=)
c.26082T>C (p.Ile8694=)
c.52125T>C (p.Ile17375=)
c.47523T>C (p.Ile15841=)
c.47520T>C (p.Ile15840=)
c.44562T>C (p.Ile14854=)
c.26178T>C (p.Ile8726=)
c.47673T>C (p.Ile15891=)
c.47670T>C (p.Ile15890=)
c.47103T>C (p.Ile15701=)
c.44445T>C (p.Ile14815=)
c.44364T>C (p.Ile14788=)
c.26127T>C (p.Ile8709=)
c.15981T>C (p.Ile5327=)
2g.178607456A>TCA430270841TTN,TTN-AS1c.45528T>A (p.Ile15176=)
c.26613T>A (p.Ile8871=)
c.26412T>A (p.Ile8804=)
c.26037T>A (p.Ile8679=)
c.53232T>A (p.Ile17744=)
c.48309T>A (p.Ile16103=)
n.683-711A>T
c.52329T>A (p.Ile17443=)
c.26223T>A (p.Ile8741=)
c.26082T>A (p.Ile8694=)
c.52125T>A (p.Ile17375=)
c.47523T>A (p.Ile15841=)
c.47520T>A (p.Ile15840=)
c.44562T>A (p.Ile14854=)
c.26178T>A (p.Ile8726=)
c.47673T>A (p.Ile15891=)
c.47670T>A (p.Ile15890=)
c.47103T>A (p.Ile15701=)
c.44445T>A (p.Ile14815=)
c.44364T>A (p.Ile14788=)
c.26127T>A (p.Ile8709=)
c.15981T>A (p.Ile5327=)
2g.178607457A>CCA349565865TTN,TTN-AS1c.45527T>G (p.Ile15176Ser)
c.26612T>G (p.Ile8871Ser)
c.26411T>G (p.Ile8804Ser)
c.26036T>G (p.Ile8679Ser)
c.53231T>G (p.Ile17744Ser)
c.48308T>G (p.Ile16103Ser)
n.683-710A>C
c.52328T>G (p.Ile17443Ser)
c.26222T>G (p.Ile8741Ser)
c.26081T>G (p.Ile8694Ser)
c.52124T>G (p.Ile17375Ser)
c.47522T>G (p.Ile15841Ser)
c.47519T>G (p.Ile15840Ser)
c.44561T>G (p.Ile14854Ser)
c.26177T>G (p.Ile8726Ser)
c.47672T>G (p.Ile15891Ser)
c.47669T>G (p.Ile15890Ser)
c.47102T>G (p.Ile15701Ser)
c.44444T>G (p.Ile14815Ser)
c.44363T>G (p.Ile14788Ser)
c.26126T>G (p.Ile8709Ser)
c.15980T>G (p.Ile5327Ser)
2g.178607457A>GCA349565866TTN,TTN-AS1c.45527T>C (p.Ile15176Thr)
c.26612T>C (p.Ile8871Thr)
c.26411T>C (p.Ile8804Thr)
c.26036T>C (p.Ile8679Thr)
c.53231T>C (p.Ile17744Thr)
c.48308T>C (p.Ile16103Thr)
n.683-710A>G
c.52328T>C (p.Ile17443Thr)
c.26222T>C (p.Ile8741Thr)
c.26081T>C (p.Ile8694Thr)
c.52124T>C (p.Ile17375Thr)
c.47522T>C (p.Ile15841Thr)
c.47519T>C (p.Ile15840Thr)
c.44561T>C (p.Ile14854Thr)
c.26177T>C (p.Ile8726Thr)
c.47672T>C (p.Ile15891Thr)
c.47669T>C (p.Ile15890Thr)
c.47102T>C (p.Ile15701Thr)
c.44444T>C (p.Ile14815Thr)
c.44363T>C (p.Ile14788Thr)
c.26126T>C (p.Ile8709Thr)
c.15980T>C (p.Ile5327Thr)
2g.178607457A>TCA349565867TTN,TTN-AS1c.45527T>A (p.Ile15176Asn)
c.26612T>A (p.Ile8871Asn)
c.26411T>A (p.Ile8804Asn)
c.26036T>A (p.Ile8679Asn)
c.53231T>A (p.Ile17744Asn)
c.48308T>A (p.Ile16103Asn)
n.683-710A>T
c.52328T>A (p.Ile17443Asn)
c.26222T>A (p.Ile8741Asn)
c.26081T>A (p.Ile8694Asn)
c.52124T>A (p.Ile17375Asn)
c.47522T>A (p.Ile15841Asn)
c.47519T>A (p.Ile15840Asn)
c.44561T>A (p.Ile14854Asn)
c.26177T>A (p.Ile8726Asn)
c.47672T>A (p.Ile15891Asn)
c.47669T>A (p.Ile15890Asn)
c.47102T>A (p.Ile15701Asn)
c.44444T>A (p.Ile14815Asn)
c.44363T>A (p.Ile14788Asn)
c.26126T>A (p.Ile8709Asn)
c.15980T>A (p.Ile5327Asn)
2g.178607458T>ACA349565868TTN,TTN-AS1c.45526A>T (p.Ile15176Phe)
c.26611A>T (p.Ile8871Phe)
c.26410A>T (p.Ile8804Phe)
c.26035A>T (p.Ile8679Phe)
c.53230A>T (p.Ile17744Phe)
c.48307A>T (p.Ile16103Phe)
n.683-709T>A
c.52327A>T (p.Ile17443Phe)
c.26221A>T (p.Ile8741Phe)
c.26080A>T (p.Ile8694Phe)
c.52123A>T (p.Ile17375Phe)
c.47521A>T (p.Ile15841Phe)
c.47518A>T (p.Ile15840Phe)
c.44560A>T (p.Ile14854Phe)
c.26176A>T (p.Ile8726Phe)
c.47671A>T (p.Ile15891Phe)
c.47668A>T (p.Ile15890Phe)
c.47101A>T (p.Ile15701Phe)
c.44443A>T (p.Ile14815Phe)
c.44362A>T (p.Ile14788Phe)
c.26125A>T (p.Ile8709Phe)
c.15979A>T (p.Ile5327Phe)
2g.178607458T>CCA349565869TTN,TTN-AS1c.45526A>G (p.Ile15176Val)
c.26611A>G (p.Ile8871Val)
c.26410A>G (p.Ile8804Val)
c.26035A>G (p.Ile8679Val)
c.53230A>G (p.Ile17744Val)
c.48307A>G (p.Ile16103Val)
n.683-709T>C
c.52327A>G (p.Ile17443Val)
c.26221A>G (p.Ile8741Val)
c.26080A>G (p.Ile8694Val)
c.52123A>G (p.Ile17375Val)
c.47521A>G (p.Ile15841Val)
c.47518A>G (p.Ile15840Val)
c.44560A>G (p.Ile14854Val)
c.26176A>G (p.Ile8726Val)
c.47671A>G (p.Ile15891Val)
c.47668A>G (p.Ile15890Val)
c.47101A>G (p.Ile15701Val)
c.44443A>G (p.Ile14815Val)
c.44362A>G (p.Ile14788Val)
c.26125A>G (p.Ile8709Val)
c.15979A>G (p.Ile5327Val)
2g.178607458T>GCA349565870TTN,TTN-AS1c.45526A>C (p.Ile15176Leu)
c.26611A>C (p.Ile8871Leu)
c.26410A>C (p.Ile8804Leu)
c.26035A>C (p.Ile8679Leu)
c.53230A>C (p.Ile17744Leu)
c.48307A>C (p.Ile16103Leu)
n.683-709T>G
c.52327A>C (p.Ile17443Leu)
c.26221A>C (p.Ile8741Leu)
c.26080A>C (p.Ile8694Leu)
c.52123A>C (p.Ile17375Leu)
c.47521A>C (p.Ile15841Leu)
c.47518A>C (p.Ile15840Leu)
c.44560A>C (p.Ile14854Leu)
c.26176A>C (p.Ile8726Leu)
c.47671A>C (p.Ile15891Leu)
c.47668A>C (p.Ile15890Leu)
c.47101A>C (p.Ile15701Leu)
c.44443A>C (p.Ile14815Leu)
c.44362A>C (p.Ile14788Leu)
c.26125A>C (p.Ile8709Leu)
c.15979A>C (p.Ile5327Leu)
2g.178607459C>ACA1993838TTN,TTN-AS1c.45525G>T (p.Val15175=)
c.26610G>T (p.Val8870=)
c.26409G>T (p.Val8803=)
c.26034G>T (p.Val8678=)
c.53229G>T (p.Val17743=)
c.48306G>T (p.Val16102=)
n.683-708C>A
c.52326G>T (p.Val17442=)
c.26220G>T (p.Val8740=)
c.26079G>T (p.Val8693=)
c.52122G>T (p.Val17374=)
c.47520G>T (p.Val15840=)
c.47517G>T (p.Val15839=)
c.44559G>T (p.Val14853=)
c.26175G>T (p.Val8725=)
c.47670G>T (p.Val15890=)
c.47667G>T (p.Val15889=)
c.47100G>T (p.Val15700=)
c.44442G>T (p.Val14814=)
c.44361G>T (p.Val14787=)
c.26124G>T (p.Val8708=)
c.15978G>T (p.Val5326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178607459C=CA1310546563TTN,TTN-AS1c.45525G= (p.Val15175=)
c.26610G= (p.Val8870=)
c.26409G= (p.Val8803=)
c.26034G= (p.Val8678=)
c.53229G= (p.Val17743=)
c.48306G= (p.Val16102=)
n.683-708C=
c.52326G= (p.Val17442=)
c.26220G= (p.Val8740=)
c.26079G= (p.Val8693=)
c.52122G= (p.Val17374=)
c.47520G= (p.Val15840=)
c.47517G= (p.Val15839=)
c.44559G= (p.Val14853=)
c.26175G= (p.Val8725=)
c.47670G= (p.Val15890=)
c.47667G= (p.Val15889=)
c.47100G= (p.Val15700=)
c.44442G= (p.Val14814=)
c.44361G= (p.Val14787=)
c.26124G= (p.Val8708=)
c.15978G= (p.Val5326=)
2g.178607459C>GCA430270848TTN,TTN-AS1c.45525G>C (p.Val15175=)
c.26610G>C (p.Val8870=)
c.26409G>C (p.Val8803=)
c.26034G>C (p.Val8678=)
c.53229G>C (p.Val17743=)
c.48306G>C (p.Val16102=)
n.683-708C>G
c.52326G>C (p.Val17442=)
c.26220G>C (p.Val8740=)
c.26079G>C (p.Val8693=)
c.52122G>C (p.Val17374=)
c.47520G>C (p.Val15840=)
c.47517G>C (p.Val15839=)
c.44559G>C (p.Val14853=)
c.26175G>C (p.Val8725=)
c.47670G>C (p.Val15890=)
c.47667G>C (p.Val15889=)
c.47100G>C (p.Val15700=)
c.44442G>C (p.Val14814=)
c.44361G>C (p.Val14787=)
c.26124G>C (p.Val8708=)
c.15978G>C (p.Val5326=)
2g.178607459C>TCA1993837TTN,TTN-AS1c.45525G>A (p.Val15175=)
c.26610G>A (p.Val8870=)
c.26409G>A (p.Val8803=)
c.26034G>A (p.Val8678=)
c.53229G>A (p.Val17743=)
c.48306G>A (p.Val16102=)
n.683-708C>T
c.52326G>A (p.Val17442=)
c.26220G>A (p.Val8740=)
c.26079G>A (p.Val8693=)
c.52122G>A (p.Val17374=)
c.47520G>A (p.Val15840=)
c.47517G>A (p.Val15839=)
c.44559G>A (p.Val14853=)
c.26175G>A (p.Val8725=)
c.47670G>A (p.Val15890=)
c.47667G>A (p.Val15889=)
c.47100G>A (p.Val15700=)
c.44442G>A (p.Val14814=)
c.44361G>A (p.Val14787=)
c.26124G>A (p.Val8708=)
c.15978G>A (p.Val5326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178607460A=CA1310546565TTN,TTN-AS1c.45524T= (p.Val15175=)
c.26609T= (p.Val8870=)
c.26408T= (p.Val8803=)
c.26033T= (p.Val8678=)
c.53228T= (p.Val17743=)
c.48305T= (p.Val16102=)
n.683-707A=
c.52325T= (p.Val17442=)
c.26219T= (p.Val8740=)
c.26078T= (p.Val8693=)
c.52121T= (p.Val17374=)
c.47519T= (p.Val15840=)
c.47516T= (p.Val15839=)
c.44558T= (p.Val14853=)
c.26174T= (p.Val8725=)
c.47669T= (p.Val15890=)
c.47666T= (p.Val15889=)
c.47099T= (p.Val15700=)
c.44441T= (p.Val14814=)
c.44360T= (p.Val14787=)
c.26123T= (p.Val8708=)
c.15977T= (p.Val5326=)
2g.178607460A>CCA349565875TTN,TTN-AS1c.45524T>G (p.Val15175Gly)
c.26609T>G (p.Val8870Gly)
c.26408T>G (p.Val8803Gly)
c.26033T>G (p.Val8678Gly)
c.53228T>G (p.Val17743Gly)
c.48305T>G (p.Val16102Gly)
n.683-707A>C
c.52325T>G (p.Val17442Gly)
c.26219T>G (p.Val8740Gly)
c.26078T>G (p.Val8693Gly)
c.52121T>G (p.Val17374Gly)
c.47519T>G (p.Val15840Gly)
c.47516T>G (p.Val15839Gly)
c.44558T>G (p.Val14853Gly)
c.26174T>G (p.Val8725Gly)
c.47669T>G (p.Val15890Gly)
c.47666T>G (p.Val15889Gly)
c.47099T>G (p.Val15700Gly)
c.44441T>G (p.Val14814Gly)
c.44360T>G (p.Val14787Gly)
c.26123T>G (p.Val8708Gly)
c.15977T>G (p.Val5326Gly)

Number of alleles fetched